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A number sign (#) is used with this entry because of evidence that van der Woude syndrome-2 (VWS2) is caused by heterozygous mutation in the GRHL3 gene (608317) on chromosome 1p36.
Description
Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.
For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300).
Clinical Features
Koillinen et al. (2001) studied a large Finnish pedigree with van der Woude syndrome in which the clinical features were typical for VWS with the exception that usually CL/P is twice as common as CP, but in this family, 9 of the 11 affected individuals had CP and only 1 had CL/P. In addition, only 1 affected family member exhibited lip pits, and he did not have clefting anomalies. Noting that lip pits are present in 80% of VWS patients, Koillinen et al. (2001) suggested that this family might represent a new subtype or variation of VWS.
Mapping
Although VWS had shown remarkable genetic homogeneity in all populations, with most reported families showing linkage to chromosome 1q32-q41 (see 119300) due to mutation in the IRF6 gene (607199), Koillinen et al. (2001) mapped a second locus for VWS (VWS2) to chromosome 1p34 by a genomewide linkage scan in a large Finnish pedigree that did not show linkage to the chromosome 1q32-q41 region. A maximum lod score of 3.18 was obtained at marker D1S2797 (theta = 0.0), and analysis of meiotic recombinants demonstrated a 30-cM region of shared haplotype. The transmission pattern was consistent with autosomal dominant inheritance.
Inheritance
The transmission pattern of VWS in the family reported by Koillinen et al. (2001) was consistent with autosomal dominant inheritance.
Molecular Genetics
In 8 affected and 3 unaffected members of the large Finnish VWS pedigree reported by Koillinen et al. (2001), Peyrard-Janvid et al. (2014) performed targeted exome sequencing and identified a heterozygous 2-bp insertion in the GRHL3 gene (608317.0001) that segregated with disease in the family and was not found in 561 Finnish controls. Screening of 44 additional VWS families who were known to be negative for causative mutations in the IRF6 gene (607199) revealed heterozygous GRHL3 mutations in 6 (see, e.g., 608317.0002-608317.0005), including 1 family previously reported by Peyrard-Janvid et al. (2005) and 1 previously reported by Malik et al. (2010). In 1 proband, 2 GRHL3 variants were found to be located in trans: a frameshift mutation inherited from her affected father and healthy paternal grandfather, and a missense mutation inherited from her healthy mother. Peyrard-Janvid et al. (2014) noted that 1 proband (see 608317.0003) had previously been found to carry an IRF6 missense variant (K80R) that was not conclusively determined to be causative (Malik et al., 2010), raising the possibility that variants in both IRF6 and GRHL3 could contribute to VWS in 1 family.
Leslie et al. (2016) performed genomewide analysis of nonsyndromic cleft palate (CP) and found significant association with a missense variant in GRHL3 (T454M, rs41268753; p = 4.08 X 10(-9)) and replicated the result in an independent cohort. The authors noted that the minor allele frequency of rs41268753 among European controls was 2.75%, consistent with the 3.06% frequency reported in non-Finnish European populations in the ExAC database. However, the elevated frequency of the T454M variant in both the discovery and replication samples conferred increased risk for CP (odds ratios of 8.3 and 2.16, respectively). The mutant showed activity of about one-third of wildtype in luciferase transactivation assays and perturbed periderm development in zebrafish embryos. Leslie et al. (2016) concluded that the T454M variant is an etiologic variant for nonsyndromic CP.
Mangold et al. (2016) performed genomewide analysis of nonsyndromic cleft lip/palate (CLP) and CP only (CPO) and found significant association with the T454M variant in GRHL3, but only for nonsyndromic CPO (p combined = 2.73 X 10(-9)). Sequencing GRHL3 in 672 Central European individuals with nonsyndromic clefting identified 4 CPO probands with truncating mutations not found in the Exome Variant Server, 1000 Genomes Project, ExAC, or GoNL databases. The mutations, 3 splice site and 1 frameshift, segregated with cleft palate in the respective families. None of the 9 affected individuals showed the typical lip pits seen in VWS. However, in 1 family in which the affected mother exhibited a broad uvula and nasal speech that was 'strongly suggestive' of submucous cleft palate, close examination of 2 daughters who had clefting of the hard and soft palates revealed irregularities of the lower lip that might represent subtle lip pits. The authors designated this to be a 'transitional' phenotype, and suggested that it was likely that in the other families some descendants would have lip pits and/or CLP. In contrast to VWS-associated mutations, the mutations associated with nonsyndromic clefting were all located within the GRHL3 DNA-binding domain; Mangold et al. (2016) stated that further investigation would be required to determine whether this reflected a genuine genotype-phenotype correlation.
Genotype/Phenotype Correlations
Peyrard-Janvid et al. (2014) tested for phenotypic variation between the VWS1 and VWS2 loci and found that individuals with a GRHL3 mutation were significantly more likely to have CP and less likely to have CL/P than individuals with IRF6 mutations. Lip pits were less frequent among individuals with GRHL3 mutations, but the difference was not statistically significant, and the presence of dental and limb anomalies did not differ significantly between the 2 groups.
Animal Model
Peyrard-Janvid et al. (2014) assayed the effect of GRHL3 mutations on Grhl3 function in zebrafish and observed abrogation of periderm development, consistent with a dominant-negative effect. In mouse, all 6 embryos lacking Grhl3 exhibited abnormal oral periderm and 1 (17%) developed cleft palate. Analysis of the oral phenotype of double-heterozygote (Irf6 +/-; Grhl3 +/-) murine embryos failed to demonstrate epistasis between the 2 genes, suggesting that they function in separate but convergent pathways during palatogenesis.
History
In the Finnish pedigree with van der Woude syndrome mapping to chromosome 1p34, Rorick et al. (2011) analyzed 2 candidate genes that fulfilled criteria for regulation by the IRF6 (607199) gene, SFN (601290) and WDR65 (614259), but did not find any etiologic mutation. Analysis of SFN and WDR65 in 48 individuals with VWS who were known to be negative for mutation in IRF6 revealed a missense mutation in WDR65 (D5232Y; 614259.0001) in a Brazilian patient that was not found in controls. Noting that the mutation significantly changes the biochemical properties of a conserved residue, Rorick et al. (2011) concluded that it was potentially etiologic. In the Finnish pedigree studied by Koillinen et al. (2001) and Rorick et al. (2011), and in 7 additional VWS pedigrees without mutation in IRF6, Peyrard-Janvid et al. (2014) found heterozygous mutation in the GRHL3 gene on chromosome 1p36 segregating with the disorder.
INHERITANCE \- Autosomal dominant HEAD & NECK Mouth \- Lower lip pits \- Cleft lip \- Cleft palate \- Uvular anomaly Teeth \- Anodontia (rare) MOLECULAR BASIS \- Caused by mutation in the grainyhead-like-3 gene (GRHL3, 608317.0001 ) ▲ 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
|
VAN DER WOUDE SYNDROME 2
|
c0175697
| 25,900 |
omim
|
https://www.omim.org/entry/606713
| 2019-09-22T16:10:05 |
{"doid": ["0060239"], "mesh": ["C536528"], "omim": ["606713"], "orphanet": ["888"]}
|
A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age.
## Epidemiology
The prevalence of the infantile form is unknown. This rare kidney disorder affects both male and female; there is no difference in risk between ethnic groups.
## Clinical description
Infantile nephronophthisis can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with reduced kidney function beginning within 1 year after birth and progressing to ESRD before 3 years of age. The disease is characterized by severe hypertension, anemia, skeletal abnormalities and increased thirst and urination. Extra renal involvement may include hepatic fibrosis, recurrent bronchial infections, situs inversus and valvular or ventricular septal defects. Renal ultrasound findings include hyperechogenic kidneys with size ranging from reduced to enlarged. Histological findings include diffuse interstitial fibrosis, tubular atrophy, renal cortical microcysts, dilatation of proximal tubules and Bowman space, and absence of a thickened tubular basement membrane.
## Etiology
Monogenic causal mutations have been identified in several genes involved in the Inversin compartment, which is localized at the proximal segment of the cilia. The most common pathogenic variants are found in the genes INVS (9q31.1) encoding Inversin, a protein that has a role in kidney development, and NPHP3 (3q22.1) encoding nephrocystin-3. Other pathogenic variants include NEK8 (17q11.2), TTC21B (2q24.3), ZNF423 (16q12.1), and CEP83 (12q22).
## Diagnostic methods
The diagnosis is either by renal biopsy or genetic testing. Investigational work-up may include blood tests for anemia, electrolyte imbalances and metabolic panel, and renal or abdominal ultrasound. Involvement of other organs should be investigated and may include an eye examination, neuroimaging, and a neurological examination.
## Differential diagnosis
Differential diagnosis includes autosomal recessive polycystic kidney disease, early-onset autosomal dominant polycystic kidney disease, and renal hypodysplasia.
## Antenatal diagnosis
Antenatal diagnosis is possible where a pathogenic variant has been identified in a family.
## Genetic counseling
Inheritance is autosomal recessive. Homozygous or compound heterozygous mutations can be present in the patient. The parents are obligate heterozygotes (carriers) for a pathogenic variation and are asymptomatic with no risk of developing the disorder. Each sib of an affected individual has 50% risk to be an asymptomatic carrier, 25% to be affected, and 25% to be unaffected and not a carrier. Doubtless the offspring of affected individuals will be obligate carriers for a nephronophthisis-related pathogenic variant.
## Management and treatment
There is no specific therapy. The management is supportive to maintain fluid and metabolic balance including correction of water and electrolyte imbalances as well as anemia, hypertension and proteinuria treatment if necessary. The management of patients includes growth hormone therapy in children who meet the criteria for treatment. For the ESRD management, dialysis, and isolated kidney/combined liver-kidney transplant is necessary.
## Prognosis
Patients progress to ESRD before the age of 3 years. Despite the risk of complications, transplant outcomes are excellent with no recurrence of tubular injury
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Infantile nephronophthisis
|
c1865872
| 25,901 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93591
| 2021-01-23T17:49:52 |
{"mesh": ["C566582"], "omim": ["602088", "615382"], "icd-10": ["Q61.5"], "synonyms": ["Autosomal recessive infantile NPHP", "Autosomal recessive infantile nephronophthisis"]}
|
A number sign (#) is used with this entry because of evidence that dystonia-16 (DYT16) is caused by homozygous mutation in the PRKRA gene (603424) on chromosome 2q31.
Clinical Features
Camargos et al. (2008) reported 2 unrelated consanguineous families from Brazil in which a total of 6 individuals had early-onset dystonia-parkinsonism. Patients had onset of gait abnormalities and leg pain around age 12 years, followed by dysphagia, spasmodic dysphonia generalized dystonia, torticollis, upper limb dystonia, and opisthotonic posturing. Orofacial dystonia and facial grimacing were prominent features. Four patients had bradykinesia, 1 of whom also had tremor. Two patients had delayed development, and several had speech and language impairment.
Zech et al. (2014) reported 2 adult brothers of Polish descent who developed limb dystonia at ages 16 and 11 years, respectively. The disorder was slowly progressive in both patients, resulting in difficulties in fine motor tasks, walking, and speech. The symptoms were not responsive to medication. Cognition was unaffected in 1 patient at age 58 years. The other patient, who was more severely affected, underwent pallidotomy and later had a severe ischemic stroke resulting in complete loss of walking ability. This patient also had significant cognitive deficits at age 64 years. Both patients had mild parkinsonian features, including akinesia and rigidity.
Inheritance
The transmission pattern of DYT16 in the families reported by Camargos et al. (2008) and Zech et al. (2014) was consistent with autosomal recessive inheritance.
Mapping
By genomewide linkage analysis of 2 Brazilian families with early-onset dystonia, Camargos et al. (2008) identified a locus, designated DYT16, on chromosome 2q31.2.
Molecular Genetics
In affected members of 2 unrelated Brazilian families with early-onset dystonia-16, Camargos et al. (2008) identified a homozygous mutation in the PRKRA gene (P222L; 603424.0001). The mutation was found by linkage analysis and candidate gene sequencing. Haplotype analysis suggested a founder effect.
Seibler et al. (2008) identified a heterozygous 2-bp deletion in the PRKRA gene (603424.0002) in a 9-year-old German boy with early-onset dystonia of the legs that spread gradually over a few years. There was no family history of movement disorders. Although a second pathogenic PRKRA mutation was not identified, Seibler et al. (2008) postulated that there may be a mutation in noncoding gene regions or that there may be a gene dosage effect. Alternatively, the heterozygous mutation may be pathogenic in itself.
Zech et al. (2014) identified a homozygous P222L mutation in the PRKRA gene in 2 Polish brothers with DYT16. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. Haplotype analysis indicated identity by state with the Brazilian patients who carried this mutation (Camargos et al., 2008), consistent with a founder effect. Functional studies of the variant were not performed. No additional PRKRA mutations were found in 10 German patients with generalized dystonia. Three heterozygous variants (T34S, N102S, and c.-14A-G) in the PRKRA gene were found in 3 of 329 patients with mainly adult-onset focal or segmental dystonia, but the pathogenicity of these heterozygous variants was unclear.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Oromandibular dyskinesia \- Grimacing Neck \- Torticollis \- Retrocollis ABDOMEN Gastrointestinal \- Dysphagia NEUROLOGIC Central Nervous System \- Dystonia \- Gait abnormalities \- Fine motor task disruption \- Lower limb pain \- Involuntary movements \- Upper limb dystonia \- Pyramidal signs \- Dysarthria \- Opisthotonic posturing \- Bradykinesia \- Postural tremor \- Parkinsonism \- Hyperreflexia \- Delayed motor development (in some patients) \- Delayed speech development (in some patients) \- Cognitive impairment (in 1 patient) VOICE \- Spasmodic dysphonia MISCELLANEOUS \- Onset between 7 and 18 years \- Progressive disorder \- Some patients become wheelchair-bound \- Four unrelated families have been reported (last curated February 2015) MOLECULAR BASIS \- Caused by mutation in the protein kinase, interferon-inducible double-stranded RNA-dependent activator gene (PRKRA, 603424.0001 ) ▲ 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
|
DYSTONIA 16
|
c2677567
| 25,902 |
omim
|
https://www.omim.org/entry/612067
| 2019-09-22T16:02:30 |
{"doid": ["0090048"], "mesh": ["C567430"], "omim": ["612067"], "orphanet": ["210571"]}
|
6-phosphogluconate dehydrogenase deficiency
Crystallographic structure of sheep 6-phosphogluconate dehydrogenase complexed with adenosine 2'-monophosphate[1]
6-phosphogluconate dehydrogenase
Identifiers
Symbol6PGD
PfamPF00393
Pfam clanCL0106
InterProIPR006114
PROSITEPDOC00390
SCOP22pgd / SCOPe / SUPFAM
Available protein structures:
Pfam structures / ECOD
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary
6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal hereditary disease characterized by abnormally low levels of 6-phosphogluconate dehydrogenase (6PGD), a metabolic enzyme involved in the Pentose phosphate pathway. It is very important in the metabolism of red blood cells (erythrocytes). 6PDG deficiency affects less than 1% of the population, and studies suggest that there may be race variant involved in many of the reported cases. Although it is similar, 6PDG deficiency is not linked to glucose-6-phosphate dehydrogenase (G6PD) deficiency, as they are located on different chromosomes. However, a few people have had both of these metabolic diseases.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathophysiology
* 3.1 Reaction mechanism
* 3.2 Importance of NADPH
* 3.3 Oxidative stress
* 4 Diagnosis
* 5 Treatment
* 5.1 Prevention
* 5.2 Blood transfusion
* 6 References
* 7 External links
## Signs and symptoms[edit]
6-Phosphogluconate dehydrogenase deficiency can be asymptomatic in many patients who are carriers. Female carriers have been found to more frequently experience symptoms. Enzyme activity was shown to be reduced by 35–65% depending on the severity of the deficiency.
Abnormal red blood cell breakdown (hemolysis) in 6PGD deficiency can be symptomatic in a number of ways, including the following:
* Neonatal jaundice,
* Possibility of leading to kernicterus due to a hyperbilirubinemia
* Hemolytic crises in response to:
* Illness and infections
* Certain drugs
* Certain foods
* Certain chemicals
* In extreme cases, kidney failure
## Genetics[edit]
6PGD deficiency is a recessive hereditary disorder located on the P arm of chromosome 1. It is an autosomal disease, not associated with the sex chromosomes and can affect both sexes. The lack of synthesis of a specific protein on chromosome 1 has reduced a subject suffering from 6PGD deficiency from producing adequate amounts of the 6-phosphogluconate dehydrogenase enzyme. Transfer of the disease can be passed from a parent, even when the parent is asymptomatic.
## Pathophysiology[edit]
Pentose phosphate pathway with a breakdown in the conversion of 6-phosphogluconate dehydrogenase to ribulose-5-phosphate due to a deficiency of 6-phosphogluconate dehydrogenase enzyme
### Reaction mechanism[edit]
6-Phosphogluconate dehydrogenase (6PGD) is an enzyme in the pentose phosphate pathway (see image). 6PGD catalyzes the reaction of 6-phosphogluconate to an unstable form of 3-keto-6-phosphogluconate, and yields a co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH) as a byproduct. NADPH supplies reducing power to cells. The reaction is the second NADPH releasing reaction in the pentose phosphate pathway, the first being catalyzed by glucose-6-phosphate dehydrogenase. 3-keto-6-phosphogluconate then rapidly (in an irreversible reaction) decarboxylates to CO2 and ribulose-5-phosphate, which is the precursor to many vital metabolic processes.
### Importance of NADPH[edit]
The NADPH pathway (both 6PGD and G6PD reactions) is the only source of reductant to reduce glutathione in red blood cells. The role of erythrocytes as oxygen carriers puts them at risk of being damaged by oxidizing free radicals. The reduction of glutathione acts as an antioxidant and prevents damage from reactive oxygen species.
### Oxidative stress[edit]
People suffering from 6PGD or G6PD deficiency (or both) are at risk of hemolytic anemia in states of oxidative stress. Oxidative stress can result from infection and from chemical exposure to medication and certain foods. Broad beans, e.g., fava beans, contain high levels of vicine, divicine, convicine and isouramil, all of which are oxidants.
When all remaining reduced glutathione is consumed, enzymes and other proteins, such as hemoglobin are subsequently damaged by the free radicals, leading to electrolyte imbalance, cross-bonding and protein deposition in the red cell membranes. Damaged red cells are phagocytosed and sequestered (taken out of circulation) in the spleen. The hemoglobin is metabolized to bilirubin (causing jaundice). The red blood cells rarely disintegrate in the circulation, so hemoglobin is rarely excreted directly by the kidney, but this can occur in severe cases, causing acute kidney injury.
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2017)
## Treatment[edit]
### Prevention[edit]
The most important measure taken for treatment of 6-phosphoglucanate dehydrogenase is prevention. Avoidance of chemical exposures to drugs and foods that have the potential to cause hemolysis. Although some foods and supplements have antioxidant properties, their use does not decrease the severity of G6PD deficiency.
Diagnosis is difficult during haemolytic episodes since reticulocytes have increased levels of enzymes and may produce erroneously normal results. Testing can be useful after a steady state is reached (about six weeks after the most recent episode of haemolysis), including a G6PD assay to confirm a diagnosis and G6PD spectrophotometry to detect the level of activity.
Vaccinations against some common pathogens (e.g. hepatitis A and hepatitis B) may prevent infection-induced attacks.[2]
### Blood transfusion[edit]
In the acute phase of hemolysis, blood transfusions might be necessary, or even dialysis in acute kidney injury. Blood transfusion is an important symptomatic measure, as the transfused red cells are generally not 6PGD deficient and will live a normal lifespan in the recipient's circulation.
## References[edit]
1. ^ PDB: 1PGQ; Adams MJ, Ellis GH, Gover S, Naylor CE, Phillips C (July 1994). "Crystallographic study of coenzyme, coenzyme analogue and substrate binding in 6-phosphogluconate dehydrogenase: implications for NADP specificity and the enzyme mechanism". Structure. 2 (7): 651–68. doi:10.1016/s0969-2126(00)00066-6. PMID 7922042.
2. ^ Monga A, Makkar RP, Arora A, Mukhopadhyay S, Gupta AK (July 2003). "Case report: Acute hepatitis E infection with coexistent glucose-6-phosphate dehydrogenase deficiency". Can J Infect Dis. 14 (4): 230–1. doi:10.1155/2003/913679. PMC 2094938. PMID 18159462.
## External links[edit]
Classification
D
* ICD-10: D55.0
* OMIM: 172200
* v
* t
* e
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Disaccharide catabolism
* Congenital alactasia
* Sucrose intolerance
Monosaccharide transport
* Glucose-galactose malabsorption
* Inborn errors of renal tubular transport (Renal glycosuria)
* Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism
Fructose:
* Essential fructosuria
* Fructose intolerance
Galactose / galactosemia:
* GALK deficiency
* GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis
* GSD type 0 (glycogen synthase deficiency)
* GSD type IV (Andersen's disease, branching enzyme deficiency)
* Adult polyglucosan body disease (APBD)
Glycogenolysis
Extralysosomal:
* GSD type III (Cori's disease, debranching enzyme deficiency)
* GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)
* GSD type V (McArdle's disease, myophosphorylase deficiency)
* GSD type IX (phosphorylase kinase deficiency)
Lysosomal (LSD):
* GSD type II (Pompe's disease, glucosidase deficiency)
Glucose ⇄ CAC
Glycolysis
* MODY 2/HHF3
* GSD type VII (Tarui's disease, phosphofructokinase deficiency)
* Triosephosphate isomerase deficiency
* Pyruvate kinase deficiency
Gluconeogenesis
* PCD
* Fructose bisphosphatase deficiency
* GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)
Pentose phosphate pathway
* Glucose-6-phosphate dehydrogenase deficiency
* Transaldolase deficiency
* 6-phosphogluconate dehydrogenase deficiency
Other
* Hyperoxaluria
* Primary hyperoxaluria
* Pentosuria
* Aldolase A deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
6-phosphogluconate dehydrogenase deficiency
|
None
| 25,903 |
wikipedia
|
https://en.wikipedia.org/wiki/6-phosphogluconate_dehydrogenase_deficiency
| 2021-01-18T19:06:16 |
{"icd-10": ["D55.0"], "wikidata": ["Q4641571"]}
|
A number sign (#) is used with this entry because of evidence that Warburg-Cinotti syndrome (WRCN) is caused by heterozygous mutation in the DDR2 gene (191311) on chromosome 1q23.
Description
Warburg-Cinotti syndrome is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
Clinical Features
Warburg et al. (2006) described a 42-year-old Danish man with bilateral congenital blepharophimosis, who postoperatively had progressive corneal vascularization, which eventually developed into symblepharon. The patient also had conductive hearing loss, progressive acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet, and face, and oligospermia, and he experienced spontaneous pneumothorax 4 times. Electron microscopy of a skin biopsy was consistent with normal epidermis with stimulated differentiation.
Cinotti et al. (2013) reported a 53-year-old Italian man who developed contractures at age 6 years, beginning in the interphalangeal joints and progressing from distal to proximal and from upper to lower limbs. The skin of his hands and feet thickened, and he developed webbing between the toes and progressive osteolysis, resulting in complete disappearance of the toes and distal metatarsals, as well as restrictive multilayered banding of the skin of the palms. At age 25, thickened hyperpigmented keloid plaques appeared at areas of scarring and slowly progressed in size. In the fourth and fifth decades of life, conjunctival pannus with corneal thinning developed in both eyes, and despite repeated surgical removal, the pannus rapidly recurred, eventually leaving only hand-motion vision bilaterally. Examination at age 45 showed severely deformed hands and feet, with multilayered restrictive fibrotic bands on the palms, hyperkeratotic verrucoid hyperpigmented skin on the legs, and bilateral amputation of toes. He also exhibited gum hypertrophy and gynecomastia. X-rays showed bilateral symmetric osteolytic lesions in hands and wrists, severe flexion deformities of the fingers, bony ankylosis of interphalangeal and metacarpophalangeal joints, and complete bilateral osteolysis of the toes with ankylosis of the tibiotarsal joints. The authors noted similarities to the patient previously reported by Warburg et al. (2006), as well as phenotypic overlap with polyfibromatosis (see 126900).
Xu et al. (2018) studied 6 patients with Warburg-Cinotti syndrome, including the 2 men previously reported by Warburg et al. (2006) (patient 1) and Cinotti et al. (2013) (patient 2), a mother and 2 affected children (patients 3, 4, and 5), and an unrelated 35-year-old woman (patient 6). The 31-year-old mother developed keloid-like plaques at age 5 years, without preceding trauma or inflammation. At age 14, finger flexion contractures developed, which progressed to ankylosis of proximal interphalangeal (PIP) joints and cutaneous fusion between the digits and palm. Surgical correction was followed by rapid recurrence. Gradual cutaneous fusion of the toes resulted in little or no separation of the toes. She also experienced numerous sterile abscesses of the hands and feet, followed by scarring, cutaneous fusions, and contractures. At age 25, she developed corneal neovascularization and subsequent pannus and symblepharon formation on the right eye; ultimately there was complete conjunctivalization of the cornea and visual acuity became hand-motion only. Although she had normal vision in her left eye, examination revealed limbal stem cell deficiency, superior corneal vascular pannus, central corneal thinning, and endothelial cell dysfunction with disruption of healthy hexagonal morphology on specular microscopy. Facial dysmorphism, shared with her affected children, included narrow nose, mild midface retrusion, and epicanthal folds. At age 31, she had generalized thin erythematous skin with follicular hyperkeratosis. X-rays showed relatively normal phalanges of the fingers with contractures, and small hypodense distal phalanges and deformed middle phalanges of the toes, with severe lateral angulation of distal interphalangeal (DIP) joints of toes 3 through 5. Her 8-year-old daughter had thin and somewhat lax skin, contractures of her fourth fingers with thickening of the skin over the flexor tendons, and bilateral superior corneal vascular pannus with central corneal thinning. The proband's 5-year-old son had enlargement of several PIP finger joints, mild flexion contractures of several DIP finger joints, and mild follicular hyperkeratosis, as well as prominent superior corneal vascular pannus. The unrelated 35-year-old woman had angiodermatofibromas and exhibited delayed wound healing with keloid-like scarring. She had hypermobile joints, contractures, and generalized enlargement of finger joints. Chronic ulcers on her toes resulted in loss of all toes and a significant portion of forefoot tissue. Facial features included bilateral blepharophimosis and epicanthus, thin nose with small alae nasi, large low-set ears, and high palate.
Clinical Management
Xu et al. (2018) noted that the DDR2 mutations shown to cause WRCN were activating, and suggested that dasatinib, a leukemia drug that also inhibits DDR2, could be used for treatment of affected individuals. In vitro analysis of cultured patient fibroblasts confirmed that dasatnib abolished the observed autophosphorylation of DDR2.
Molecular Genetics
In 6 patients from 4 families with Warburg-Cinotti syndrome, including the Danish man originally reported by Warburg et al. (2006) and the Italian man reported by Cinotti et al. (2013), Xu et al. (2018) identified heterozygosity for missense mutations in the DDR2 gene (L610P, 191311.0006 and Y740C, 191311.0007). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Functional analysis demonstrated that both mutations were activating.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Long face \- Midface retrusion, mild (in some patients) Ears \- Posteriorly rotated ears \- Thin ear cartilage \- Cholesteatoma \- Conductive hearing loss (in some patients) Eyes \- Narrow palpebral fissures \- Corneal vascular pannus \- Blepharophimosis \- Epicanthal folds Nose \- Thin nose \- Small alae nasi Mouth \- High palate \- Gingival hypertrophy (uncommon) Teeth \- Crowded dentition \- Malocclusion CARDIOVASCULAR Heart \- Mitral valve insufficiency (in some patients) RESPIRATORY Lung \- Pneumothorax (in some patients) SKELETAL \- Joint contractures \- Joint swelling Hands \- Acroosteolysis, progressive \- Palmar fibrotic bands \- Cutaneous fusions Feet \- Acroosteolysis, progressive \- Loss of toes SKIN, NAILS, & HAIR Skin \- Thin skin \- Lax skin \- Keloid-like plaques \- Follicular hyperkeratosis \- Chronic ulcerations on toes \- Sterile abscesses of hands and feet Skin Histology \- Orthokeratosis \- Hyperkeratosis \- Epidermal acanthosis, mild \- Hyperpigmentation of basal layer \- Hyperplasia of fibroblast-like cells \- Dermal fibrosis \- Thickened and interwoven collagen bundles \- Prominent vasculature \- Extravasation of red blood cells \- Hemosiderin deposits \- Superficial perivascular lymphohistiocytic infiltrate Electron Microscopy \- Orthokeratosis \- Thickened bundles of tonofilaments Nails \- Dystrophic nails \- Loss of toenails (in older patients) MUSCLE, SOFT TISSUES \- Paucity of subcutaneous tissue ENDOCRINE FEATURES \- Hypothyroidism (in some patients) MISCELLANEOUS \- Variable presenting symptoms MOLECULAR BASIS \- Caused by mutation in the discoidin domain receptor family member-2 gene (DDR2, 191311.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
WARBURG-CINOTTI SYNDROME
|
None
| 25,904 |
omim
|
https://www.omim.org/entry/618175
| 2019-09-22T15:43:16 |
{"omim": ["618175"]}
|
Secretan's syndrome
SpecialtyPsychiatry
Secretan's syndrome is a rare condition of hard edema and traumatic hyperplasia of the back of the hand. Most experts view it as a self-inflicted condition.[1]
It was first described in 1901 by Henri-François Secretan, a Swiss insurance physician. He described a condition characterized by a hard, sometimes cyanotic edema (Charcot's blue edema) on the dorsal aspect of the hand. This condition which some people think is a self-inflicted (factitious) condition usually starts with a small accidental injury of the dorsum of the hand. This is usually followed by swelling edema and cyanosis of the dorsum of the usually right hand. The edema is thought to be secondary to excessive inflammation the condition slowly burns out with the edema being replaced by fibrosis surrounding the extensor tendons of the hand.
## References[edit]
1. ^ Reading, George (1980). "Secretan's syndrome: Hard edema of the dorsum of the hand". Plastic and Reconstructive Surgery. 65 (2): 182–7. doi:10.1097/00006534-198002000-00010. PMID 7352159. S2CID 45201727.
This article about a disease, disorder, or medical condition 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
|
Secretan's syndrome
|
None
| 25,905 |
wikipedia
|
https://en.wikipedia.org/wiki/Secretan%27s_syndrome
| 2021-01-18T18:41:18 |
{"wikidata": ["Q7444204"]}
|
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Microcephalic primordial dwarfism-insulin resistance syndrome
|
c4225288
| 25,906 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436182
| 2021-01-23T17:30:46 |
{"omim": ["616541", "617253"], "icd-10": ["Q87.1"]}
|
Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family.
Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing. Treatment is based on each person’s specific signs and symptoms and may include physical therapy, pain management with medication, and consultation with specialists.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Myotonic dystrophy
|
c0027126
| 25,907 |
gard
|
https://rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy
| 2021-01-18T17:58:49 |
{"mesh": ["D009223"], "umls": ["C0027126"], "orphanet": ["206647"], "synonyms": ["Dystrophia myotonica", "Myotonia atrophica", "Myotonia dystrophica"]}
|
A number sign (#) is used with this entry because of evidence that Lopes-Maciel-Rodan syndrome (LOMARS) is caused by compound heterozygous mutation in the HTT gene (613004) on chromosome 4p16.
Clinical Features
Lopes et al. (2016) reported an 18-year-old girl with a neurodevelopmental disorder who met diagnostic criteria for Rett syndrome (RTT; 312750). She showed developmental regression around 6 months of age, and developed complex partial seizures around 8 months. Additional features included swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. She had severe intellectual disability with poor speech, bruxism, kyphosis/scoliosis, small and cold hands and feet, diminished response to pain, and respiratory, sleep, and gait dysfunction. Brain imaging showed atrophy of the striatum, particularly the caudate nuclei, as well as mild atrophy of the cortex and cerebellar vermis.
Rodan et al. (2016) reported a consanguineous family from Ecuador in which 3 sibs had a neurodevelopmental disorder characterized by severe global developmental delay since birth, central hypotonia progressing to spastic quadriparesis, intellectual disability with poor or absent speech, and feeding difficulties. More variable features included dystonia, midline stereotypies, and high myopia. One patient had seizures and 1 patient had bruxism. One of the patients died unexpectedly at age 7 years. Two of the sibs had features reminiscent of Rett syndrome.
Inheritance
The transmission pattern of LOMARS in the family reported by Rodan et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In a girl with LOMARS, Lopes et al. (2016) identified compound heterozygous missense mutations in the HTT gene (P703L, 613004.0002 and T1260M, 613004.0003). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed, but Lopes et al. (2016) noted that the HTT gene interacts with MECP2 (300005), which is mutant in Rett syndrome. Mutations in MECP2 were excluded in the patient.
In 3 sibs, born of parents of Ecuadorian descent, with LOMARS, Rodan et al. (2016) identified compound heterozygous mutations in the HTT gene (613004.0004 and 613004.0005). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. Mutations in MECP2 were excluded in the sibs.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Myopia (1 family) Mouth \- Bruxism RESPIRATORY \- Breathing disturbances ABDOMEN Gastrointestinal \- Dysphagia \- Feeding difficulties SKELETAL \- Distal contractures Spine \- Kyphosis \- Scoliosis Hands \- Small hands \- Cold hands Feet \- Small feet \- Cold feet MUSCLE, SOFT TISSUES \- Truncal hypotonia \- Appendicular hypertonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Developmental regression (in infancy) \- Intellectual disability, severe \- Poor or absent speech \- Seizures (in some patients) \- Spasticity \- Hyperreflexia \- Ankle clonus \- Pyramidal signs \- Sleep difficulties \- Abnormal hand movements \- Hand wringing \- Dystonia \- Bradykinesia \- Tremor \- Gait instability \- Cerebral atrophy \- Cerebellar atrophy \- Caudate atrophy (1 patient) Behavioral Psychiatric Manifestations \- Agitation MISCELLANEOUS \- Four patients from 2 unrelated families have been reported (last curated April 2017) MOLECULAR BASIS \- Caused by mutation in the huntingtin gene (HTT, 613004.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
LOPES-MACIEL-RODAN SYNDROME
|
c4479491
| 25,908 |
omim
|
https://www.omim.org/entry/617435
| 2019-09-22T15:45:50 |
{"omim": ["617435"]}
|
## Summary
### Clinical characteristics.
The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD).
Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year.
CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.
### Diagnosis/testing.
Diagnosis of LAL deficiency is suspected in individuals with characteristic clinical findings such as hepatomegaly, elevated transaminases, and a typical serum lipid profile: high total serum concentrations of cholesterol, low-density lipoprotein, and triglycerides; and low serum concentration of high-density lipoprotein. The diagnosis is confirmed by identification of either biallelic pathogenic variants in LIPA or deficient LAL enzyme activity in peripheral blood leukocytes, fibroblasts, or dried blood spots.
### Management.
Treatment of manifestations:
* Both Wolman disease and CESD: Enzyme replacement therapy (ERT) with sebelipase alfa was recently approved by the FDA and is administered at a dose of 1 mg/kg body weight every other week; this treatment can be life saving for those with severe Wolman syndrome and life improving with prolonged survival in those who have CESD. Consider referral to a liver specialist. Liver transplantation may be indicated when liver disease progresses to cirrhosis and liver failure.
* Wolman disease: Consultation with a nutrition team to limit malnutrition if possible, including use of parenteral nutrition; corticosteroid and mineralocorticoid replacement in the presence of adrenal insufficiency.
* CESD: Reduce cholesterol through the use of statins, cholestyramine, and a diet low in cholesterol and triglycerides. Aggressive reduction of additional cardiovascular risk factors and lipophilic vitamins may also be beneficial. Consult with a nutrition team for children with failure to thrive or adults with weight loss.
Prevention of primary manifestations: Successful hematopoietic stem cell transplantation can correct the metabolic defect.
Prevention of secondary complications: Use nonspecific beta-blockers in those with esophageal varices to reduce the risk of bleeding.
Surveillance: No standard guidelines for surveillance of CESD have been developed.
* For children: Monitor growth and nutritional status; evaluate fasting lipid levels, platelet count, and liver enzymes every six months.
* For adults: reevaluate every 6-12 months depending on disease severity. Monitor nutritional status. Evaluate fasting lipid levels, platelet count, and liver enzymes routinely. Evaluate those with severe liver disease for esophageal varices by upper endoscopy every three years. Monitor and treat those with hepatosplenomegaly thrombocytopenia to prevent bleeding complications.
* For children and adults: monitor hepatosplenic volume and screen for hepatocellular carcinoma with serial liver and spleen imaging.
Agents/circumstances to avoid: In the presence of thrombocytopenia avoid use of nonsteroidal anti-inflammatory drugs.
Evaluation of relatives at risk: It is appropriate to evaluate the sibs of a proband in order to identify those who would benefit from early treatment and surveillance.
### Genetic counseling.
LAL deficiency is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis of pregnancies at increased risk are possible if the LIPA pathogenic variants in the family have been identified.
## Diagnosis
The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from infantile-onset form (Wolman disease) to later-onset forms, collectively known as cholesterol ester storage disease (CESD). LAL deficiency cannot be diagnosed on clinical findings alone.
### Suggestive Findings
Wolman disease is suspected in infants with hepatomegaly, vomiting, diarrhea, and failure to thrive. Adrenal calcification on abdominal imaging greatly increases suspicion for Wolman disease [Anderson et al 1999, Boldrini et al 2004].
Cholesterol ester storage disease (CESD) is suspected in individuals (ranging in age from early childhood to adulthood) with signs of increased lipid storage such as hepatomegaly, liver disease, lipid deposition in the intestinal walls, and/or xanthelasma.
#### Preliminary Testing
Serum concentrations of lipids and lipoproteins are almost always abnormal (Table 1).
* Total serum concentration of cholesterol is often high, as are serum concentrations of low-density lipoprotein (LDL) and triglycerides.
* Serum concentration of high-density lipoprotein (HDL) is typically low.
Note: Normal serum lipid levels do not exclude the diagnosis of LAL deficiency [Drebber et al 2005, Chatrath et al 2009, Decarlis et al 2009, Pisciotta et al 2009].
### Table 1.
Lipid Values Found in 33 Individuals with LAL Deficiency
View in own window
Cholesterol 1Triglycerides 2
TotalLDLHDL
Normal<200<130>50<150
In reported casesRange106-428147-2928-8760-443
Average29122830200
% of cases > or < normal range88% > nml100% > nml96% < nml71% > nml
Elleder et al [1990], Klima et al [1993], Seedorf et al [1995], Gasche et al [1997], Anderson et al [1999], vom Dahl et al [1999], Lohse et al [2000], Tadiboyina et al [2005], Dalgiç et al [2006], Bindu et al [2007], Chatrath et al [2009], Hooper et al [2008], Decarlis et al [2009], Pisciotta et al [2009], Fasano et al [2012]
1\.
Values in mg/dL
### Establishing the Diagnosis
The diagnosis is confirmed by identification of either biallelic pathogenic variants in LIPA or deficient LAL enzyme activity in peripheral blood leukocytes, fibroblasts, or dried blood spots.
Molecular testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
* Single-gene testing. Sequence analysis of LIPA is performed first. Consider gene-targeted deletion/duplication analysis if only one pathogenic variant is identified.
* A multigene panel that includes LIPA and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* More comprehensive genomic testing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of lysosomal acid lipase deficiency. For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 2.
Molecular Genetic Testing Used in Lysosomal Acid Lipase Deficiency
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method 3
One Variant DetectedTwo Variants Detected
LIPASequence analysis 4Wolman disease
1/7 probands6/7 probands
CESD
2/31 probands29/31 probands
Gene-targeted deletion/duplication analysis 5Unknown 6Unknown, none reported 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\.
Klima et al [1993], Ameis et al [1995], Muntoni et al [1995], Seedorf et al [1995], Gasche et al [1997], Anderson et al [1999], vom Dahl et al [1999], Lohse et al [2000], Drebber et al [2005], Tadiboyina et al [2005], Hooper et al [2008], Pisciotta et al [2009], Lee et al [2011], Fasano et al [2012]
4\.
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.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Large deletions appear to be rare, but have been reported [Lee et al 2011].
7\.
Examples of homozygosity for exon or whole-gene deletions have not been reported.
Assay of lysosomal acid lipase (LAL) enzyme activity. Residual enzyme activity levels are more significantly decreased in Wolman syndrome (≤5% of controls) compared to a generally less severe but overlapping range of loss of activity in CESD (range 2%-11% of residual activity) [Fasano et al 2012].
Note: (1) Assay of LAL enzyme activity in peripheral blood leukocytes is the confirmatory diagnostic test for LAL deficiency; however, enzyme activity can also be diagnostically measured in hepatocytes, skin fibroblasts, or dried blood spots that have been promptly transported and properly stored [Reiner et al 2014]. (2) The confirmation of significant loss of LAL enzymatic function is recommended when LIPA pathogenic variants identified on genome-wide sequencing (e.g., exome sequencing) first suggest the diagnosis of LAL deficiency.
Liver biopsy. Note: Use of more invasive testing, such as liver biopsy, is not necessary in the diagnostic evaluation of all persons suspected of having LAL deficiency. See Clinical Description, Liver Biopsy.
## Clinical Characteristics
### Clinical Description
Lysosomal acid lipase (LAL) deficiency, like other diseases caused by enzyme deficiencies, has a wide phenotypic spectrum. Infantile-onset LAL deficiency is known as Wolman disease. All later-onset LAL deficiency, which may present from early childhood to late adulthood (often with subclinical disease), is known as cholesterol ester storage disease (CESD).
#### Wolman Disease
Infants with Wolman disease may present as early as the first day of life with vomiting, steatorrhea, and abdominal distention [Shome et al 2002]. Other infants may come to medical attention within weeks to months due to failure to thrive [Browne et al 2003].
Hepatomegaly, the result of build-up of cholesterol esters and triglycerides in macrophages of the liver, is common and can be dramatic. Splenomegaly, the result of the same mechanism, may also be present.
Increased lipid deposition along the gastrointestinal tract leads to thickened bowel walls with resultant malnutrition and wasting [Nchimi et al 2003].
Steatosis may progress to liver failure.
Enlarged adrenal glands with calcification, a classic finding in Wolman disease, can lead to adrenal cortical insufficiency.
Infants with Wolman disease do not usually survive beyond the first year of life. Treatment with hematopoietic stem cell transplantation (HSCT) has had mixed results, and requires further study [Gramatges et al 2009]. Death results from a combination of malnutrition, liver disease, and adrenal cortical insufficiency.
#### Cholesterol Ester Storage Disease (CESD)
Although CESD may present in childhood in a manner similar to Wolman disease with failure to thrive and delayed milestones [Bindu et al 2007], it has also been identified in individuals with atypical phenotypes such as elevated liver enzymes or serum lipid abnormalities identified on routine screening [Drebber et al 2005] and apparent autosomal recessive hypercholesterolemia without mutation of the expected gene [Stitziel et al 2013] (see Differential Diagnosis, Autosomal recessive hypercholesterolemia).
Atherosclerosis due to hyperlipidemia accounts for much of the morbidity associated with late-onset CESD, such as coronary artery disease and catastrophic vascular events including stroke [Elleder et al 1990]. In one family the phenotype resembled autosomal recessive hypercholesterolemia (see Differential Diagnosis) with extremely high total and low-density lipoprotein cholesterol levels, and abnormal hepatic accumulation of cholesterol without other features of CESD [Stitziel et al 2013].
Hepatomegaly with or without splenomegaly is frequently present as a result of cholesterol ester and triglyceride build-up in macrophages. Organomegaly, often among the first findings noted, may be present for years before a diagnosis is reached [Ameis et al 1995, vom Dahl et al 1999]. Individuals with splenomegaly may develop anemia and/or thrombocytopenia due to secondary hypersplenism.
Liver disease is common. It may present as altered liver function with or without jaundice, steatosis, fibrosis, or cirrhosis. Liver disease can lead to esophageal varices, which are associated with risk for hemorrhage and can be life-threatening [Gasche et al 1997]. Some individuals may experience liver failure.
Hepatocellular carcinoma has occurred in the setting of advanced cirrhosis [Riva et al 2008].
Lipid deposition in the wall of the intestinal tract can contribute to diarrhea and weight loss [Anderson et al 1999, Drebber et al 2005].
On occasion, signs of hyperlipidemia (e.g., xanthelasma, particularly of the palpebral area) may be visible [Elleder et al 1990, vom Dahl et al 1999].
Enlarged adrenal glands with punctate calcifications can be present, more often in those with more severe disease [Boldrini et al 2004].
Individuals with CESD may have a normal life span depending on the severity of disease manifestations.
#### Liver Biopsy
Liver biopsy demonstrates microvesicular steatosis or "fatty liver." To help distinguish LAL deficiency (both Wolman and CESD) from common diagnoses with overlapping findings (see Differential Diagnosis), the following findings on liver biopsy are used:
* Presence of additional supportive findings including "sea-blue" histiocytes, large Kupffer cells with increased vacuoles, lipid droplets, and/or cholesterol crystals [Boldrini et al 2004, Drebber et al 2005, Pisciotta et al 2009]
* Immunohistochemistry including use of the lysosomal markers cathepsin D, lysosomal-associated membrane protein 1 (LAMP1), LAMP2, and lysosomal integral membrane protein 2 [Hůlková & Elleder 2012]
* Identification of Maltese cross-type birefringence in frozen sections [Hůlková & Elleder 2012]
### Genotype-Phenotype Correlations
In general, null allelic variants with no residual enzyme function result in Wolman disease and pathogenic variants that allow for residual LAL enzyme activity result in CESD.
The c.894G>A pathogenic variant, associated with residual enzyme activity, has been identified in European and Hispanic populations and, to a lesser extent, in Asian populations. Although this variant has not been identified in African Americans, it cannot be concluded that this population is not at risk for this condition [Scott et al 2013]. Variant c.894G>A is the most common observed in CESD, accounting for more than 50% of reported pathogenic variants [Bernstein et al 2013]. Nearly all individuals with CESD reported in the published literature are compound heterozygous or homozygous for c.894G>A. Of note, three members of one family homozygous for the c.894G>A variant had an atypical phenotype that resembled autosomal recessive hypercholesterolemia (see Differential Diagnosis) [Stitziel et al 2013].
Among individuals with the same genotype, varying levels of residual enzyme activity have been reported; therefore, the predictive value of genotype is only in distinguishing Wolman disease from CESD.
The level of residual LAL enzyme activity identified on enzyme assay is not useful for predicting disease course, as manifestations of disease vary greatly among individuals with similar levels of enzyme activity.
### Nomenclature
Other names used for lysosomal acid lipase (LAL) deficiency in the past that are no longer in use include:
* Acid cholesterol ester hydrolase deficiency
* Cholesterol ester hydrolase deficiency storage disease
Cholesterol ester storage disease is also known as cholesteryl ester storage disease.
### Prevalence
Due to the rarity and under-recognition of LAL deficiency, precise prevalence rates are not known at this time. Estimates in a German cohort suggested 1:50,000 for CESD and 1:350,000 for Wolman disease; however, LAL deficiency may be found to be more common as milder phenotypes continue to be recognized [Muntoni et al 2007].
LAL deficiency may be more common in individuals of Iranian-Jewish ancestry: one study suggested rates as high as 1:4200 in the Iranian-Jewish population of the Los Angeles area due to a c.260G>T founder variant [Valles-Ayoub et al 2011]. This pathogenic variant has been reported both in individuals with Wolman disease and in those with CESD [Valles-Ayoub et al 2011, Pagani et al 1996].
## Differential Diagnosis
Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is common in both, and lipid profiles in Niemann-Pick disease A and B which may be similar to those in LAL deficiency (i.e., low HDL with hyperlipidemia).
In contrast, the interstitial lung disease and ophthalmologic findings common to Niemann-Pick disease are not observed in LAL deficiency.
Biochemical analysis distinguishes between the two disorders [vom Dahl et al 1999]. Mutation of SMPD1 is causative. Inheritance is autosomal recessive.
Gaucher disease (GD). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and GD are hepatosplenomegaly and thrombocytopenia.
In contrast, the adrenal calcifications typical of Wolman disease (and occasionally CESD) and the abnormal lipid profile typical of LAL deficiency are not seen in GD. The bone manifestations common to GD type 1 are not observed in CESD.
Biochemical analysis can distinguish between the two diseases [vom Dahl et al 1999]. Mutation of GBA is causative. Inheritance is autosomal recessive.
Familial hypercholesterolemia. CESD may initially be confused with familial hypercholesterolemia because of increased serum concentration of total cholesterol and LDL; however, serum concentrations of HDL and triglycerides are usually still in the normal range. Liver disease and organomegaly are not observed in familial hypercholesterolemia. Mutation of LDLR, APOB, or PCSK9 accounts for 60%-80% of familial hypercholesterolemia. Inheritance is autosomal dominant.
Autosomal recessive hypercholesterolemia (ARH) (OMIM 603813). CESD manifesting as extremely high total and low-density lipoprotein cholesterol levels may resemble ARH [Stitziel et al 2013]. Mutation of LDLRAP1 is causative. Inheritance is autosomal recessive.
Hepatosplenomegaly is common to many storage disorders, including other lysosomal storage disorders. Other storage disorders can often be distinguished from LAL deficiency based on associated features:
* Contractures, skeletal dysplasia, and coarse features which can be found in mucolipidosis II and the mucopolysaccharidoses (MPS I, MPS II, MPS IVA, MPS IVB) are absent in LAL deficiency.
* Hypoglycemia, kidney disease, and cardiomyopathy, which can be seen in the glycogen storage diseases (GSD I, GSD II, GSD III, GSD IV, GSD V, GSD VI), are absent in LAL deficiency.
Biochemical analysis can distinguish between storage disorders.
Liver disease in CESD is commonly misattributed to hepatitis, non-alcoholic fatty liver disease, or cryptogenic cirrhosis. Nonalcoholic fatty liver disease, which is associated with obesity, is a common finding on liver biopsy; therefore, body mass index should be considered along with other signs and symptoms when considering the cause of "fatty liver" disease.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with lysosomal acid lipase (LAL) deficiency, the following evaluations are recommended:
* Complete blood count
* Complete fasting lipid profile, if not done at the time of diagnosis
* Liver function tests
* Upper endoscopy to evaluate individuals with severe liver disease for the presence of esophageal varices
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Enzyme replacement therapy (ERT) with sebelipase alfa was approved by the FDA in late 2015.
* Results from a Phase III clinical trial of 66 affected individuals demonstrated that ERT can be life saving for those with severe Wolman syndrome and life improving with prolonged survival in those who have cholesterol ester storage disease [Burton et al 2015].
* ERT is administered intravenously at a dose of 1 mg/kg body weight every other week.
#### Wolman Disease
Symptoms should generally be treated in a routine manner, while keeping in mind the limited life expectancy of infants with untreated Wolman disease.
Malabsorption and malnutrition. Consultation with a nutrition team should be provided in an attempt to limit malnutrition to the extent possible. Parenteral nutrition is offered in many instances of intractable malabsorption.
Hepatomegaly and liver disease. Liver transplantation can be considered for individuals who progress to cirrhosis and liver failure.
Adrenal cortical insufficiency. Corticosteroid and mineralocorticoid replacement is indicated in the presence of insufficiency.
Hematopoietic stem cell transplantation (HSCT) has overall had mixed results, and requires further study [Gramatges et al 2009]. While successful engraftment can correct the metabolic defect [Stein et al 2007, Tolar et al 2009], HSCT can be associated with morbidity and mortality [Yanir et al 2013].
Consider discussion of comfort care options.
#### CESD
Hyperlipidemia. Attempts should be made to reduce cholesterol through the use of statins, cholestyramine, ezetimibe, and a diet low in cholesterol and triglycerides [Gasche et al 1997, Dalgiç et al 2006, Chatrath et al 2009, Abello et al 2010].
Lipophilic vitamin supplementation may also be beneficial.
Aggressive reduction of additional cardiovascular disease risk factors should be encouraged.
Nutrition. Consultation with a nutrition team should be provided to children experiencing failure to thrive and to adults experiencing weight loss. Additionally, a nutrition team can assist individuals in the implementation of a diet low in cholesterol and triglycerides.
Liver transplantation can be considered for individuals who progress to cirrhosis and liver failure. At least four case reports of successful liver transplantation for CESD have been reported, with post-operative improvement of lipid profiles and successful transplant out to five years in one individual [Ambler et al 2013].
### Prevention of Secondary Complications
Individuals found to have esophageal varices should be placed on nonspecific beta-blockers to reduce the risk of bleeding; beta-blockers have not been shown to prevent the formation of esophageal varices.
### Surveillance
No standard guidelines for the surveillance of individuals with LAL deficiency have been developed. The following screening practices can be considered to monitor for the most common symptoms associated with CESD.
Children
* Special attention should be paid to growth and nutritional status. Chronic diarrhea or failure to thrive could indicate malabsorption.
* Consider monitoring fasting lipid levels, platelet count, and liver enzymes every six months.
Adults with CESD should be evaluated every six to 12 months depending on disease severity.
* Special attention should be paid to nutritional status. Chronic diarrhea or weight loss could indicate malabsorption.
* Monitor routinely fasting lipid levels, platelet count, and liver enzymes.
* Individuals with severe liver disease should be evaluated for esophageal varices by upper endoscopy every three years.
* Individuals with hepatosplenomegaly should be monitored and treated for thrombocytopenia to prevent bleeding complications.
Both children and adults. Obtain serial liver and spleen imaging to monitor for hepatosplenic volume and to screen for hepatocellular carcinoma which has arisen in the setting of advanced cirrhosis [Riva et al 2008]. Consensus on optimal screening protocols has not been published.
### Agents/Circumstances to Avoid
Those with thrombocytopenia should avoid use of nonsteroidal anti-inflammatory drugs.
### Evaluation of Relatives at Risk
It is appropriate to evaluate the sibs of a proband in order to identify those who would benefit from early institution of treatment.
* If the LIPA pathogenic variants in the family are known, molecular genetic testing can be used to clarify the genetic status of at-risk sibs.
* If the LIPA pathogenic variants in the family are not known, assay of lysosomal acid lipase (LAL) enzyme activity can be used to assist in the identification of affected sibs.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Clinical trials are underway for enzyme replacement therapy [Valayannopoulos et al 2014].
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
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
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*[[*]]: Article is not yet available in this wiki.
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|
Lysosomal Acid Lipase Deficiency
|
c2936797
| 25,909 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK305870/
| 2021-01-18T21:14:10 |
{"mesh": ["C531854"], "synonyms": ["Acid Lipase Deficiency", "LAL Deficiency"]}
|
A number sign (#) is used with this entry because spastic paraplegia-15 (SPG15) is caused by homozygous or compound heterozygous mutation in the gene encoding spastizin (ZFYVE26; 612012) on chromosome 14q24.1.
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
Description
Spastic paraplegia-15 is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by Goizet et al., 2009).
Clinical Features
Louis-Bar and Pirot (1945) described 2 brothers with macular degeneration and spastic paraplegia referred to by the authors as 'Strumpell type.' A third brother was said to have a forme fruste of spastic paraplegia. They could find no report of similar cases. Family 1 of Ledic and Van Bogaert (1960) may be identical.
Kjellin (1959) reported 2 pairs of brothers from 2 kindreds who had spastic paraplegia, distal amyotrophy of the hands, mental retardation, and central retinal degeneration. Mental retardation in all patients was present since birth, and onset of spastic paraplegia was in the third decade.
Mahloudji and Chuke (1968) reported a female with late-onset spastic paraplegia and retinal degeneration more striking peripherally. A sister was identically affected, and another sister had only spastic paraplegia. Follow-up studies by Stieffel and Todorov (1974) showed that the third sister had developed the typical retinal changes and that out of the sibship of 11, two more (5 in all) were affected. The affected persons were mentally dull. Onset was between ages 30 and 36 years.
Hughes et al. (2001) studied 2 Irish families with autosomal recessive SPG complicated by additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration.
Sachdev et al. (2005) reported a 32-year-old woman with dysarthria, spastic paraplegia, and dementia. Fundus examination showed yellow retinal lesions and fluorescein angiography demonstrated retinal flecks. Isolated flecks were observed in both her parents, suggesting that carriers of this presumably autosomal recessive disorder may have mild manifestations.
Elleuch et al. (2007) reported 3 large consanguineous Arab families with an autosomal recessive spastic paraplegia showing linkage to the SPG15 locus. Age at onset ranged from 10 to 19 years. Clinical features included spastic paraplegia, saccadic pursuit, cognitive impairment, cerebellar signs, and thin corpus callosum in those studied by MRI. Variable features included axonal peripheral neuropathy, extrapyramidal signs, and white matter abnormalities. Decreased visual acuity was not found. Elleuch et al. (2007) emphasized the clinical variability of SPG15.
Boukhris et al. (2008) reported 3 consanguineous Tunisian families of Arab origin with SPG15. Age at onset ranged from 8 to 16 years, and all had slowly progressive lower limb spasticity and mental impairment. Distal amyotrophy was observed in 3 patients and pes cavus in 2 patients. Some patients had mild upper limb involvement. Three had dysarthria, and 2 had axonal and demyelinating polyneuropathy. There was no ocular involvement.
Goizet et al. (2009) reported 11 patients from 8 families with SPG15, including a family reported by Boukhris et al. (2008). The mean age at onset was 13 years (range, 4 to 18 years), and most presented with gait disturbances, such as stumbling, tripping, and stiffness in the lower limbs. Three patients presented with learning disabilities and mental retardation. After a mean disease duration of 18.8 years, all had a moderate to severe disorder, with 6 of 10 being wheelchair-bound, and 9 having mental impairment. All patients had lower limb hyperreflexia, spasticity, and extensor plantar responses, and most had severe weakness. Other variable signs included pseudobulbar dysarthria (7 of 10), bladder dysfunction (4 of 10), nystagmus (4 of 10), upper limb spasticity with weakness (4 of 10), distal or diffuse amyotrophy (5 of 10), and axonal peripheral neuropathy (5 of 9). Three of 7 patients had degenerative retinal changes on funduscopy. All 7 patients examined had brain abnormalities, most commonly thin corpus callosum and white matter hyperintensities. Less common features included hand tremor and decreased vibration sense, each in 2 patients, and cerebellar ataxia, upper limb distal amyotrophy, pes cavus, epilepsy, frontotemporal dementia, behavioral disturbances, limited lateral ocular movements, and diabetes in 1 patient each.
Mapping
In 2 families with autosomal recessive SPG, Hughes et al. (2001) obtained evidence for linkage to a locus on chromosome 14q distinct from the SPG3 locus (182600) for autosomal dominant SPG. A lod score of 4.20 was found at zero recombination with D14S77. Haplotype construction of nearby markers confirmed the existence of this novel locus, designated SPG15, and narrowed it to a 19-cM interval on chromosome 14q22-q24.
Elleuch et al. (2007) refined the SPG15 locus to a 5.3-Mb interval on chromosome 14q between markers D14S981 and rs8688 by genomewide linkage analysis and haplotype reconstruction of 3 large consanguineous families of Arab origin with a phenotype consistent with SPG15. Direct sequencing excluded mutations in the GPHN (603930) and SLC8A3 (607991) genes.
Molecular Genetics
Mannan et al. (2006) failed to identify mutations in the coding or flanking intronic sequences of the RTN1 gene (600865) on chromosome 14q23.1 in 2 index patients from the SPG15 families reported by Hughes et al. (2001).
In affected individuals from 8 families with SPG15, Hanein et al. (2008) identified 6 different homozygous mutations in the ZFYVE26 gene (see, e.g., 612012.0001-612012.0004). The families had previously been reported by Hughes et al. (2001), Elleuch et al. (2007), Casali et al. (2004), and Boukhris et al. (2008).
Goizet et al. (2009) identified 12 different biallelic truncating mutations in the ZFYVE26 gene (see, e.g., 612012.0005-612012.0006) in affected members of 8 families with SPG15.
Population Genetics
Boukhris et al. (2009) identified a molecular basis for hereditary spastic paraplegia in 13 (34.2%) of 38 unrelated families from southern Tunisia with the disorder. The most common forms of SPG were SPG11 in 7 (18.4%) families and SPG15 in 4 (10.5%) families. SPG4 (182601) and SPG5 (270800) were present in 1 family each.
Goizet et al. (2009) reported that among a larger cohort of patients with SPG and thin corpus callosum from France, Belgium, Austria, North Africa, and the Middle East, SPG15 was the second most common type, accounting for 11.5%, after SPG11 (604360), which accounted for 59%. They calculated that SPG15 accounts for about 4% of autosomal recessive hereditary spastic paraplegias, and SPG11 accounts for about 21%.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing deficit Eyes \- Pigmented macular degeneration \- Retinal degeneration \- Decreased visual acuity ABDOMEN Gastrointestinal \- Fecal incontinence GENITOURINARY Bladder \- Urinary urgency \- Urinary incontinence \- Sphincter disturbances SKELETAL Feet \- Pes cavus MUSCLE, SOFT TISSUES \- Distal amyotrophy (hands and feet) NEUROLOGIC Central Nervous System \- Lower limb spasticity \- Lower limb weakness \- Spastic gait \- Hyperreflexia \- Extensor plantar responses \- Clonus \- Upper body involvement \- Dysarthria \- Cerebellar signs \- Ataxia \- Cognitive deterioration \- Mental retardation \- Thin corpus callosum \- Brain white matter hyperintensities on MRI \- Diffuse atrophy of cerebral hemispheres, corpus callosum, and brainstem Peripheral Nervous System \- Axonal neuropathy Behavioral Psychiatric Manifestations \- Psychosis \- Mood swings MISCELLANEOUS \- Age of onset 5 to 19 years \- Variable phenotype \- Retinal degeneration not always present \- Progressive disorder MOLECULAR BASIS \- Caused by mutation in the zinc finger FYVE domain-containing protein 26 (ZFYVE26, 612012.0001 ). ▲ 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
|
SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
|
c1849128
| 25,910 |
omim
|
https://www.omim.org/entry/270700
| 2019-09-22T16:22:14 |
{"doid": ["0110768"], "mesh": ["C536642"], "omim": ["270700"], "orphanet": ["100996"], "synonyms": ["Alternative titles", "SPASTIC PARAPLEGIA AND RETINAL DEGENERATION", "KJELLIN SYNDROME"]}
|
A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Trisomy 12p
|
c0795845
| 25,911 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1699
| 2021-01-23T17:45:38 |
{"gard": ["5305"], "mesh": ["C538299"], "umls": ["C0795845"], "icd-10": ["Q92.3"], "synonyms": ["Duplication 12p"]}
|
"TGCT" redirects here. For testicular germ cell tumor, see Germ cell tumor.
Human joint disease
Tenosynovial giant cell tumor
Other namesLocalized: Localized pigmented villonodular synovitis (L-PVNS), Giant cell tumor of the tendon sheath (GCT-TS), Nodular tenosynovitis, Localized nodular tenosynovitis, and L-TGCT
Diffuse: Pigmented villonodular synovitis (PVNS), Conventional PVNS, and D-TGCT
Micrograph of diffuse TGCT, also known as pigmented villonodular synovitis. H&E stain.
SpecialtyRheumatology
SymptomsSwelling, pain, sensitivity, and/or limited range of motion
ComplicationsSpreading of tumors to surrounding tissues
TypesDiffuse and localized
Diagnostic methodMRI, biopsy, surgery
TreatmentSurgery, CSF1R inhibitors
Tenosynovial giant cell tumor (TGCT) is a group of rare, typically non-malignant tumors of the joints. TGCT tumors often develop from the lining of joints (also known as synovial tissue).[1][2][2]:100[3][3]:245
Common symptoms of TGCT include swelling, pain, stiffness and reduced mobility in the affected joint or limb.[2]:102 This group of tumors can be divided into different subsets according to their site, growth pattern, and prognosis.[4][4]:361 Localized TGCT is sometimes referred to as giant cell tumor of the tendon sheath;[2]:100 diffuse TGCT is also called pigmented villonodular synovitis (PVNS).[2]:102
## Contents
* 1 Classification
* 1.1 Localized TGCT
* 1.2 Diffuse TGCT
* 1.2.1 Complications
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Classification[edit]
Classification for TGCT encompasses two subtypes that can be divided according to site – within a joint (intra-articular) or outside of the joint (extra-articular) – and growth pattern (localized or diffuse) of the tumor(s).[2]:100[4]:361 Localized and diffuse subsets of TGCT differ in their prognosis, clinical presentation, and biological behavior, but share a similar manner of disease development.[2]:100
### Localized TGCT[edit]
Histopathology of localized TGCT arising in hand finger. H&E stain.
Localized TGCT is sometimes referred to as localized pigmented villonodular synovitis (L-PVNS), giant cell tumor of the tendon sheath (GCT-TS), nodular tenosynovitis, localized nodular tenosynovitis, and L-TGCT.[1]:1[2]:100
The localized form of TGCT is more common.[2]:100[3]:245 Localized TGCT tumors are typically 0.5 cm-4 cm),[2]:101 develop over years,[2]:100 are benign and non-destructive to the surrounding tissue, and may reoccur in the affected area.[2]:101 The most common symptom is painless swelling.[2]:101 Localized TGCT most often occurs in fingers, but can also occur in other joints.[2][5]
### Diffuse TGCT[edit]
Micrograph of diffuse TGCT showing pigmented hemosiderin-laden macrophages (brown/red). H&E stain.
Diffuse TGCT is sometimes referred to as pigmented villonodular synovitis (PVNS), conventional PVNS, and D-TGCT.[1]:1[4]:361[6]:1[2]:102
Diffuse TGCT occurs less frequently and is locally aggressive (in some cases, tumors may infiltrate surrounding soft tissue).[3]:245[1]:1[2]:102[6][6]:1 It most commonly affects people under 40 years old, though the age of occurrence varies.[2]:102 Diffuse TGCT may occur inside a joint (intra-articular) or outside of a joint (extra-articular). Intra-articular tumors typically occur in the knee (approximately 75% of cases) and hip (approximately 15% of cases).[2]:102 Extra-articular tumors are usually found in the knee, thigh, and foot.[2]:101 Symptoms include swelling, pain, sensitivity, and/or limited range of motion.[2]:102 The rate of reoccurrence is estimated to be 18-46% for intra-articular tumors and 33-50% for extra-articular tumors.[2]:103[6]:1
#### Complications[edit]
Diffuse TGCT is locally aggressive and can spread to surrounding tissues, causing bone erosion and tissue damage. If not treated early, it can spread to areas outside the joint, extra-articular, and potentially cause permanent loss of range as well as intense pain.[7][8]
## Mechanism[edit]
TGCT tumors grow due to genetic overexpression of colony stimulating factor 1. This causes colony-stimulating factor-1 receptor (CSF1R) cells to accumulate in the joint tissue.[9][10]
## Diagnosis[edit]
TGCT can be diagnosed by magnetic resonance imaging (MRI), by biopsy, or during surgery.[11][12] The disorder is difficult to identify and is often not diagnosed for years due to nonspecific symptoms or a general paucity of symptoms.[13] TGCT cases are often misdiagnosed as osteoarthritis,[14] localized trauma,[15] sports injuries,[16][17] xanthomas,[18] or other conditions.[19] One study of 122 diffuse TGCT patients found that the average delay in diagnosis was 2.9 years.[20]
## Treatment[edit]
Surgery has been the most common form of treatment for both localized[2]:101[4]:361 and diffuse TGCT.[2]:103[4]:361[6]:1 After surgery, patients may receive physical therapy in order to help rehabilitate affected joints.[16][8] However, recurrence of TGCT after surgery is common,[14] with a higher rate of recurrence for diffuse TGCT than for localized TGCT.[4]:361 In cases of recurrent or resistant disease, multiple surgeries, total joint arthroplasties, or amputation may be required.[6]:1
A multidisciplinary approach, supplementing surgery with radiotherapy or other treatments, can also improve outcomes in cases of recurrent TGCT.[21] In the late 2010s, treatment with CSF1R inhibitors emerged as an option[22] that may help improve functionality for patients with recurrent TGCT or TGCT that is not easily managed by surgery.[4]:361
## Epidemiology[edit]
A study conducted in the Netherlands estimated that the worldwide incidence of TGCT is 43 cases per million person-years. The majority – 39 cases per million person-years – were estimated to be localized TGCT; the remaining 4 cases per million person-years were estimated to be diffuse TGCT.[5] TGCT can occur in patients of any age, but people with localized TGCT are typically between 30 and 50 years old,[2]:100–101 while diffuse TGCT tends to affect people under the age of 40.[2]:102–103
## See also[edit]
* Fibroma of tendon sheath
* List of cutaneous conditions
## References[edit]
1. ^ a b c d Lucas, David R. (2012). "Tenosynovial Giant Cell Tumor: Case Report and Review". Archives of Pathology & Laboratory Medicine. 136 (8): 901–906. doi:10.5858/arpa.2012-0165-CR. PMID 22849738.
2. ^ a b c d e f g h i j k l m n o p q r s t u v w x y Fletcher, C. D.M.; Bridge, J.A.; Hogendoorn, P.; Mertens, F. (2013). WHO Classification of Tumours of Soft Tissue and Bone. Fourth Edition. World Health Organization. ISBN 9789283224341.
3. ^ a b c d Rateb, Kochbati; Hassen, Ben Ghozlen; Leila, Abid; Faten, Farah; Med Samir, Daghfous (2017). "Giant cell tumor of soft tissues: A case report of extra-articular diffuse-type giant cell tumor of the quadriceps". International Journal of Surgery Case Reports. 31: 245–249. doi:10.1016/j.ijscr.2016.12.019. PMC 5310176. PMID 28199932.
4. ^ a b c d e f g h Ravi, Vinod; Wang, Wei-Lien; Lewis, Valerae O. (2011). "Treatment of tenosynovial giant cell tumor and pigmented villonodular synovitis". Current Opinion in Oncology. 23 (4): 361–366. doi:10.1097/CCO.0b013e328347e1e3. PMID 21577109. S2CID 1608847.
5. ^ a b Mastboom, Monique J L.; Verspoor, Floortje G M.; Verschoor, Arjan J.; Uittenbogaard, Daniël; Nemeth, Banne; Mastboom, Walter J B.; Bovée, Judith V M G.; Dijkstra, P D Sander; Schreuder, H W Bart; Gelderblom, Hans; Van De Sande, Michiel A J.; TGCT study group (2017). "Higher incidence rates than previously known in tenosynovial giant cell tumors". Acta Orthopaedica. 88 (6): 688–694. doi:10.1080/17453674.2017.1361126. PMC 5694816. PMID 28787222.
6. ^ a b c d e f Mastboom, Monique J. L.; Verspoor, Floortje G. M.; Gelderblom, Hans; Sande, Michiel A. J. van de (2017). "Limb Amputation after Multiple Treatments of Tenosynovial Giant Cell Tumour: Series of 4 Dutch Cases". Case Reports in Orthopedics. 2017: 1–6. doi:10.1155/2017/7402570. PMC 5506462. PMID 28744388.
7. ^ "Clinical Study". The Stone Clinic. Archived from the original (web journal) on 2007-07-01. Retrieved 2007-08-07.
8. ^ a b Jabalameli, M; Jamshidi, K; Radi, M; Hadi, H; Bagherifard, A (2014). "Surgical outcomes of 26 patients with pigmented villonodular synovitis (PVNS) of the knee at a mean follow-up of 4 years: Introducing a novel technique". Medical Journal of the Islamic Republic of Iran. 28: 123. PMC 4313448. PMID 25679002.
9. ^ West, R. B.; Rubin, B. P.; Miller, M. A.; Subramanian, S.; Kaygusuz, G.; Montgomery, K.; Zhu, S.; Marinelli, R. J.; De Luca, A.; Downs-Kelly, E.; Goldblum, J. R.; Corless, C. L.; Brown, P. O.; Gilks, C. B.; Nielsen, T. O.; Huntsman, D.; Van De Rijn, M. (2006). "A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells". Proceedings of the National Academy of Sciences. 103 (3): 690–695. Bibcode:2006PNAS..103..690W. doi:10.1073/pnas.0507321103. PMC 1325107. PMID 16407111. "The CSF1 translocations result in overexpression of CSF1. In cases of TGCT and PVNS carrying this translocation, it is present in a minority of the intratumoral cells, leading to CSF1 expression only in these cells, whereas the majority of cells express CSF1R but not CSF1, suggesting a tumor-landscaping effect with aberrant CSF1 expression in the neoplastic cells, leading to the abnormal accumulation of nonneoplastic cells that form a tumorous mass."
10. ^ Cupp, John S.; Miller, Melinda A.; Montgomery, Kelli D.; Nielsen, Torsten O.; o??Connell, John X.; Huntsman, David; Rijn, Matt van de; Gilks, Cyril B.; West, Robert B. (2007). "Translocation and Expression of CSF1 in Pigmented Villonodular Synovitis, Tenosynovial Giant Cell Tumor, Rheumatoid Arthritis and Other Reactive Synovitides". The American Journal of Surgical Pathology. 31 (6): 970–976. doi:10.1097/PAS.0b013e31802b86f8. PMID 17527089. S2CID 29544370. "As the CSF1 translocation is postulated to play an important role in the biology of PVNS/TGCT, the consistent presence of CSF1 expression in translocation-negative cases implies that other mechanisms can lead to CSF1 up-regulation."
11. ^ Akinci, Orhan; Akalin, Y.; Incesu, M.; Eren, A. (2011). "Long-term results of surgical treatment of pigmented villonodular synovitis of the knee". Acta Orthopaedica et Traumatologica Turcica. 45 (3): 149–155. doi:10.3944/AOTT.2011.2442. PMID 21765227.
12. ^ Verspoor, Floortje G. M.; Zee, Aniek A. G.; Hannink, Gerjon; Van Der Geest, Ingrid C. M.; Veth, Rene P. H.; Schreuder, H. W. Bart (2014). "Long-term follow-up results of primary and recurrent pigmented villonodular synovitis". Rheumatology. 53 (11): 2063–2070. doi:10.1093/rheumatology/keu230. PMID 24917565.
13. ^ Frassica FJ, Bhimani MA, McCarthy EF, Wenz J (October 1999). "Pigmented villonodular synovitis of the hip and knee". Am Fam Physician. 60 (5): 1404–10, discussion 1415. PMID 10524485.
14. ^ a b Lei, Pengfei; Sun, Rongxin; Liu, Hao; Zhu, Jianxi; Wen, Ting; Hu, Yihe (2017). "Prognosis of Advanced Tenosynovial Giant Cell Tumor of the Knee Diagnosed During Total Knee Arthroplasty". The Journal of Arthroplasty. 32 (6): 1850–1855. doi:10.1016/j.arth.2016.12.053. PMID 28161138.
15. ^ Illian, Christian; Kortmann, Horst-Rainer; Künstler, Hans Otto; Poll, Ludger W.; Schofer, Markus (2009). "Tenosynovial giant cell tumors as accidental findings after episodes of distortion of the ankle: Two case reports". Journal of Medical Case Reports. 3: 9331. doi:10.1186/1752-1947-3-9331. PMC 2803852. PMID 20062758.
16. ^ a b Hegedus, Eric J.; Theresa, Kristen (2008). "Postoperative Management of Pigmented Villonodular Synovitis in a Single Subject". Journal of Orthopaedic & Sports Physical Therapy. 38 (12): 790–797. doi:10.2519/jospt.2008.2934. PMID 19047769.
17. ^ Krych, Aaron; Odland, Andrew; Rose, Peter; Dahm, Diane; Levy, Bruce; Wenger, Doris; Stuart, Michael; Sim, Franklin (2014). "Oncologic Conditions That Simulate Common Sports Injuries". Journal of the American Academy of Orthopaedic Surgeons. 22 (4): 223–234. doi:10.5435/JAAOS-22-04-223. PMID 24668352. S2CID 37108679.
18. ^ Adams, E. L.; Yoder, E. M.; Kasdan, M. L. (2012). "Giant cell tumor of the tendon sheath: Experience with 65 cases". ePlasty. 12: e50. PMC 3499005. PMID 23185646.
19. ^ Lee, Yoo Jin; Kang, Youngjin; Jung, Jiyoon; Kim, Seojin; Kim, Chul Hwan (2016). "Intramuscular Tenosynovial Giant Cell Tumor, Diffuse-Type". Journal of Pathology and Translational Medicine. 50 (4): 306–308. doi:10.4132/jptm.2015.11.15. PMC 4963964. PMID 26755356.
20. ^ Ottaviani, Sébastien; Ayral, Xavier; Dougados, Maxime; Gossec, Laure (2011). "Pigmented Villonodular Synovitis: A Retrospective Single-Center Study of 122 Cases and Review of the Literature". Seminars in Arthritis and Rheumatism. 40 (6): 539–546. doi:10.1016/j.semarthrit.2010.07.005. PMID 20884045.
21. ^ Van Der Heijden, L.; Gibbons, C. L. M. H.; Dijkstra, P. D. S.; Kroep, J. R.; Van Rijswijk, C. S. P.; Nout, R. A.; Bradley, K. M.; Athanasou, N. A.; Hogendoorn, P. C. W.; Van De Sande, M. A. J. (2012). "The management of diffuse-type giant cell tumour (Pigmented villonodular synovitis) and giant cell tumour of tendon sheath (Nodular tenosynovitis)". The Journal of Bone and Joint Surgery. British Volume. 94-B (7): 882–888. doi:10.1302/0301-620X.94B7.28927. PMID 22733940.
22. ^ Cannarile, Michael A.; Weisser, Martin; Jacob, Wolfgang; Jegg, Anna-Maria; Ries, Carola H.; Rüttinger, Dominik (2017). "Colony-stimulating factor 1 receptor (CSF1R) inhibitors in cancer therapy". Journal for Immunotherapy of Cancer. 5 (1): 53. doi:10.1186/s40425-017-0257-y. PMC 5514481. PMID 28716061. "The tumor-permissive and immunosuppressive characteristics of tumor-associated macrophages (TAM) have fueled interest in therapeutically targeting these cells. In this context, the colony-stimulating factor 1 (CSF1)/colony-stimulating factor 1 receptor (CSF1R) axis has gained the most attention, and various approaches targeting either the ligands or the receptor are currently in clinical development."
## External links[edit]
Classification
D
* MeSH: D013586
* SNOMED CT: 128777004
External resources
* NORD: Giant Cell Tumor Tenosynovial Giant Cell Tumor
* GARD: Pigmented villonodular synovitis
* Radiopedia: tenosynovial-giant-cell-tumour
* Orphanet: 66627
* Scholia: Q3768153
* v
* t
* e
Diseases of joints
General
* Arthritis
* Monoarthritis
* Oligoarthritis
* Polyarthritis
Symptoms
* Joint pain
* Joint stiffness
Inflammatory
Infectious
* Septic arthritis
* Tuberculosis arthritis
Crystal
* Chondrocalcinosis
* CPPD (Psudogout)
* Gout
Seronegative
* Reactive arthritis
* Psoriatic arthritis
* Ankylosing spondylitis
Other
* Juvenile idiopathic arthritis
* Rheumatoid arthritis
* Felty's syndrome
* Palindromic rheumatism
* Adult-onset Still's disease
Noninflammatory
* Hemarthrosis
* Osteoarthritis
* Heberden's node
* Bouchard's nodes
* Osteophyte
* v
* t
* e
Soft tissue disorders
Capsular joint
Synoviopathy
* Synovitis/Tenosynovitis
* Calcific tendinitis
* Stenosing tenosynovitis
* Trigger finger
* De Quervain syndrome
* Transient synovitis
* Ganglion cyst
* osteochondromatosis
* Synovial osteochondromatosis
* Plica syndrome
* villonodular synovitis
* Giant-cell tumor of the tendon sheath
Bursopathy
* Bursitis
* Olecranon
* Prepatellar
* Trochanteric
* Subacromial
* Achilles
* Retrocalcaneal
* Ischial
* Iliopsoas
* Synovial cyst
* Baker's cyst
* Calcific bursitis
Noncapsular joint
Symptoms
* Ligamentous laxity
* Hypermobility
Enthesopathy/Enthesitis/Tendinopathy
upper limb
* Adhesive capsulitis of shoulder
* Impingement syndrome
* Rotator cuff tear
* Golfer's elbow
* Tennis elbow
lower limb
* Iliotibial band syndrome
* Patellar tendinitis
* Achilles tendinitis
* Calcaneal spur
* Metatarsalgia
* Bone spur
other/general:
* Tendinitis/Tendinosis
Nonjoint
Fasciopathy
* Fasciitis: Plantar
* Nodular
* Necrotizing
* Eosinophilic
Fibromatosis/contracture
* Dupuytren's contracture
* Plantar fibromatosis
* Aggressive fibromatosis
* Knuckle pads
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tenosynovial giant cell tumor
|
c1318543
| 25,912 |
wikipedia
|
https://en.wikipedia.org/wiki/Tenosynovial_giant_cell_tumor
| 2021-01-18T18:32:27 |
{"mesh": ["D000070779"], "umls": ["C1318543"], "icd-9": ["727.02"], "icd-10": ["D21"], "wikidata": ["Q2067052"]}
|
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Acrofacial dysostosis, Weyers type
|
c0457013
| 25,913 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=952
| 2021-01-23T18:45:51 |
{"gard": ["497"], "mesh": ["C536695"], "omim": ["193530"], "umls": ["C0457013"], "icd-10": ["Q75.4"], "synonyms": ["Curry-Hall syndrome", "Weyers acrodental dysostosis", "Weyers acrofacial dysostosis"]}
|
A number sign (#) is used with this entry because of evidence that left ventricular noncompaction-10 (LVNC10) and dilated cardiomyopathy-1MM (CMD1MM) are caused by heterozygous mutation in the MYBPC3 gene (600958) on chromosome 11p11.
Clinical Features
Probst et al. (2011) described 2 families with left ventricular noncompaction (LVNC) due to mutations in the MYBPC3 gene (see MOLECULAR GENETICS). In the first family, the male proband presented at age 70 years with dyspnea; family screening revealed that his asymptomatic son was also affected. Both patients had noncompacted segments of the left midventricular inferior and lateral wall. In the second family, the female proband had nonsustained ventricular flutter and received an implantable cardioverter-defibrillator; she had noncompacted segments of the apex and midventricular wall.
Molecular Genetics
In a cohort of 63 unrelated white patients of western European descent with left ventricular noncompaction (LVNC), Probst et al. (2011) analyzed 8 sarcomere genes and identified 5 probands with 4 different heterozygous mutations in the MYBPC3 gene (see, e.g., 600958.0026-600958.0028).
### Dilated Cardiomyopathy 1MM
In 46 young patients with dilated cardiomyopathy (CMD), Daehmlow et al. (2002) screened 4 sarcomeric protein genes and identified heterozygosity for a missense mutation in the MYBPC3 gene (N948T; 600958.0013) in 1 patient. Daehmlow et al. (2002) noted that they could not confirm the disease-causing nature of the variant because family members were not available for the calculation of a 2-point lod score and further investigation.
Ehlermann et al. (2008) screened the MYBPC3 gene in 87 patients with hypertrophic cardiomyopathy (see CMH4, 115197) and 71 patients with CMD and identified heterozygous mutations in 16 (18.4%) of the CMH patients and in 2 (2.8%) of the CMD patients. However, in the first CMD family, 3 additional carriers of the MYBPC3 missense mutation had no certain pathologic findings, and the authors noted that in the index patient, hypertensive heart disease could not be ruled out as the cause of his CMD phenotype. In the second CMD family, the 2 oldest carriers of the splice site mutation displayed CMD, whereas 4 younger mutation carriers showed CMH; the authors stated that it was most likely that the 2 older patients suffered from end-stage CMH with progression to a CMD phenotype. Screening of 5 additional cardiomyopathy-associated genes (MYH7, 160760; TNNT2, 191045; TNNI3, 191044; ACTC1, 102540; and TPM1, 191010) revealed no further mutations.
Hershberger et al. (2010) screened 5 cardiomyopathy-associated genes in 312 patients with CMD, who had previously been studied by Hershberger et al. (2008), and identified 12 MYBPC3 variants in 13 (4.2%) of the probands, of which 2 were considered to be 'likely' disease-causing mutations: A833T (600958.0024) and C1264F (600958.0025). The A833T change was identified in affected individuals from 3 families; haplotype analysis suggested a founder mutation. Another mutation, G490R (600958.0026), which had previously been reported in association with hypertrophic cardiomyopathy (van Driest et al., 2004; Morita et al., 2008), was detected in a CMD proband and designated as 'possibly' causative because family members were not available for segregation analysis.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Cardiomyopathy, dilated \- Heart failure, progressive and sometimes fatal \- Ventricular flutter, nonsustained (in some patients) \- Left ventricular noncompaction at apex and/or midventricular wall (in some patients) MISCELLANEOUS \- Some patients require cardiac transplantation MOLECULAR BASIS \- Caused by mutation in the cardiac myosin-binding protein-C gene (MYBPC3, 600958.0024 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
LEFT VENTRICULAR NONCOMPACTION 10
|
c0340427
| 25,914 |
omim
|
https://www.omim.org/entry/615396
| 2019-09-22T15:52:16 |
{"mesh": ["C536231"], "omim": ["615396"], "orphanet": ["154", "54260"]}
|
Macroglossia
Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue.
SpecialtyMedical genetics
Macroglossia is the medical term for an unusually large tongue.[1] Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
Although it may be asymptomatic, symptoms usually are more likely to be present and more severe with larger tongue enlargements. Signs and symptoms include:
* Dyspnea \- difficult, noisy breathing, obstructive sleep apnea[2] or airway obstruction[3]
* Dysphagia \- difficulty swallowing and eating[3]
* Dysphonia \- disrupted speech, possibly manifest as lisping[3]
* Sialorrhea \- drooling[3]
* Angular cheilitis \- sores at the corners of the mouth
* Crenated tongue \- indentations on the lateral borders of the tongue caused by pressure from teeth ("pie crust tongue")[3]
* Open bite malocclusion \- a type of malocclusion of the teeth[3]
* Mandibular prognathism \- enlarged mandible[3]
* Mouth breathing
* Orthodontic abnormalities - including diastema and tooth spacing[4]
A tongue that constantly protrudes from the mouth is vulnerable to drying out, ulceration, infection or even necrosis.[3]
## Causes[edit]
Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable cause.[5] The most common causes of tongue enlargement are vascular malformations (e.g. lymphangioma or hemangioma) and muscular hypertrophy (e.g. Beckwith–Wiedemann syndrome or hemihyperplasia).[3] Enlargement due to lymphangioma gives the tongue a pebbly appearance with multiple superficial dilated lymphatic channels. Enlargement due to hemihyperplasia is unilateral. In edentulous persons, a lack of teeth leaves more room for the tongue to expand into laterally, which can create problems with wearing dentures and may cause pseudomacroglossia.[citation needed]
Amyloidosis is an accumulation of insoluble proteins in tissues that impedes normal function.[6] This can be a cause of macroglossia if amyloid is deposited in the tissues of the tongue, which gives it a nodular appearance. Beckwith–Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly, gigantism or neonatal hypoglycemia.[7] The tongue may show a diffuse, smooth generalized enlargement.[3] The face may show maxillary hypoplasia causing relative mandibular prognathism. Apparent macroglossia can also occur in Down syndrome.[8] The tongue has a papillary, fissured surface.[3] Macroglossia may be a sign of hypothyroid disorders.
Other causes include mucopolysaccharidosis,[9] neurofibromatosis,[3] multiple endocrine neoplasia type 2B,[3] myxedema,[3] acromegaly,[3] angioedema,[3] tumors (e.g. carcinoma),[3] Glycogen storage disease type 2,[10] Simpson-Golabi-Behmel syndrome,[5][11] Triploid Syndrome,[medical citation needed] trisomy 4p,[medical citation needed] fucosidosis,[medical citation needed] alpha-mannosidosis,[12] Klippel-Trenaunay-Weber syndrome,[5] cardiofaciocutaneous syndrome,[5] Ras pathway disorders,[5] transient neonatal diabetes,[5] and lingual thyroid.[13]
## Diagnosis[edit]
Macroglossia is usually diagnosed clinically.[4] Sleep endoscopy and imaging may be used for assessment of obstructive sleep apnea.[2] The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith–Wiedemann syndrome.[5]
### Classification[edit]
The ICD-10 lists macroglossia under "other congenital malformations of the digestive system". Definitions of macroglossia have been proposed, including "a tongue that protrudes beyond the teeth during [the] resting posture" and "if there is an impression of a tooth on the lingual border when the patients slightly open their mouths".[5] Others have suggested there is no objective definition of what constitutes macroglossia.[14] Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. Common examples of true macroglossia are vascular malformations, muscular enlargement and tumors; whilst Down syndrome is an example of relative macroglossia.[14] Pseudomacryglossia refers to a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures.[4] The Myer classification subdivides macroglossia into generalized or localized.[5]
## Treatment[edit]
Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy). Treatment may also involve correction of orthodontic abnormalities that may have been caused by the enlarged tongue.[4] Treatment of any underlying systemic disease may be required, e.g. radiotherapy.[4]
## Epidemiology[edit]
Macroglossia is uncommon, and usually occurs in children.[3] Macroglossia has been reported to have a positive family history in 6% of cases. The National Organization of Rare Disorders lists macroglossia as a rare disease (less than 200 000 individuals in the US).[5]
## References[edit]
1. ^ Dennis, Mark; Bowen, William Talbot; Cho, Lucy (2012). "Macroglossia". Mechanisms of Clinical Signs. Elsevier. pp. 539–540. ISBN 978-0729540759; pbk
2. ^ a b Perkins, JA (December 2009). "Overview of macroglossia and its treatment". Current Opinion in Otolaryngology & Head and Neck Surgery. 17 (6): 460–5. doi:10.1097/moo.0b013e3283317f89. PMID 19713845. S2CID 45941755.
3. ^ a b c d e f g h i j k l m n o p q r Douglas D. Damm; Jerry E. Bouquot; Brad W. Neville; Carl M. Allen (2002). Oral & maxillofacial pathology (2nd ed.). Philadelphia: W.B. Saunders. pp. 9–10. ISBN 0721690033.
4. ^ a b c d e Topouzelis, N; Iliopoulos, C; Kolokitha, OE (April 2011). "Macroglossia". International Dental Journal. 61 (2): 63–9. doi:10.1111/j.1875-595x.2011.00015.x. PMID 21554274.
5. ^ a b c d e f g h i j Prada, CE; Zarate, YA; Hopkin, RJ (February 2012). "Genetic causes of macroglossia: diagnostic approach". Pediatrics. 129 (2): e431-7. doi:10.1542/peds.2011-1732. PMID 22250026. S2CID 13148577.
6. ^ Merck Manual 17th Ed.
7. ^ Dios, Pedro Diz; Posse, Jacobo Limeres; Sanromán, Jacinto Fernández; García, Emma Vázquez (September 2000). "Treatment of macroglossia in a child with Beckwith–Wiedemann syndrome". Journal of Oral and Maxillofacial Surgery. 58 (9): 1058–61. doi:10.1053/joms.2000.8753. PMID 10981990.
8. ^ Guimaraes CV, Donnelly LF, Shott SR, Amin RS, Kalra M (October 2008). "Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea". Pediatr Radiol. 38 (10): 1062–7. doi:10.1007/s00247-008-0941-7. PMID 18685841. S2CID 22012119.
9. ^ "Mucopolysaccharidosis type I".
10. ^ http://moon.ouhsc.edu/kfung/jty1/neurohelp/ZNN0IE23.htm
11. ^ "Omim - Simpson-Golabi-Behmel Syndrome, Type 1; Sgbs1 - Omim - Ncbi".
12. ^ "Omim - Mannosidosis, Alpha B, Lysosomal; Mansa - Omim - Ncbi".
13. ^ Cawson, R. A.; Odell, E. W. (2002). Cawson's essentials of oral pathology and oral medicine (7th ed.). Edinburgh: Churchill Livingstone. p. 219. ISBN 0443071055.
14. ^ a b Vogel, JE; Mulliken, JB; Kaban, LB (December 1986). "Macroglossia: a review of the condition and a new classification". Plastic and Reconstructive Surgery. 78 (6): 715–23. doi:10.1097/00006534-198678060-00001. PMID 2947254. S2CID 32029627.
## External links[edit]
Classification
D
* ICD-10: Q38.2 (congenital)K14.8 (acquired)
* ICD-9-CM: 529.8, 750.15
* OMIM: 153630
* MeSH: D008260
* DiseasesDB: 7689
External resources
* MedlinePlus: 002250
* eMedicine: ent/746
* Orphanet: 156207
* 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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Macroglossia
|
c0024421
| 25,915 |
wikipedia
|
https://en.wikipedia.org/wiki/Macroglossia
| 2021-01-18T18:42:43 |
{"gard": ["3342"], "mesh": ["D008260"], "umls": ["C0024421", "C0009677"], "icd-9": ["529.8"], "icd-10": ["Q38.2"], "orphanet": ["156207"], "wikidata": ["Q524095"]}
|
A number sign (#) is used with this entry because an atypical form of Stickler syndrome with predominantly ocular findings can be caused by mutation in the COL2A1 gene (120140).
Clinical Features
### Stickler Syndrome, Type I, Predominantly Ocular
Individuals with Stickler syndrome caused by mutations in the COL2A1 gene (Sticker syndrome type I, or STL1; 108300) almost always display a congenital vitreous abnormality consisting of a vestigial gel in the retrolental space, bounded by a highly folded membrane. In a study of 50 families presenting with the Stickler syndrome type I membranous vitreous phenotype, Richards et al. (2006) identified 3 families with a predominantly ocular form of type I Stickler syndrome in which 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene segregated with the respective phenotypes. The systemic features typically seen in STL1 of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities were either absent or very mild in these patients.
Korkko et al. (1993) described a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment without involvement of nonocular tissues. The findings were considered consistent with a diagnosis of Wagner syndrome (143200). Gupta et al. (2002) examined the large French-Canadian kindred originally described by Alexander and Shea (1965) as representing Wagner disease. Alexander and Shea (1965) noted epicanthus, broad sunken nasal bridge, receding chin, and genu valgum. Richards et al. (2006) suggested that the disorder in these families was more likely to be a predominantly ocular form of Stickler syndrome type I. The families studied by Korkko et al. (1993) and Gupta et al. (2002) carried mutations in the COL2A1 gene.
Wagner syndrome is often confused with Stickler syndrome. Like the predominantly ocular or ocular-only phenotype caused by certain mutations in COL2A1 (Richards et al., 2006), Wagner syndrome has no systemic features. However, the vitreoretinal phenotype is different, as neither of the recognized vitreous abnormalities in Stickler syndrome are present in Wagner syndrome and there is a lower incidence of retinal detachment. In addition, patients with Wagner syndrome have poor dark adaptation which results in night blindness; this can be demonstrated by electrodiagnosis. Finally, Wagner syndrome has been shown to be due to mutations in the CSPG2 gene (118661) which encodes versican, a proteoglycan present in the vitreous body of the eye.
### Rhegmatogenous Retinal Detachment
Rhegmatogenous retinal detachment (RRD), or retinal detachment caused by a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina, often is associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated (Go et al., 2003). Early diagnosis of RRD and recognition of patients at risk improve the prognosis. Nonsyndromic pathologic myopia (-6 diopters or less) in most cases occurs sporadically but is also encountered as an autosomal dominant or X-linked trait in families. RRD with autosomal dominant inheritance (DRRD) in association with myopia and vitreoretinal degeneration is usually described as a feature of Stickler syndrome (see 108300) or erosive vitreoretinopathy (143200).
RRD most frequently results from retinal tearing at the time of posterior vitreous detachment. Affected individuals in families with DRRD display neither of the vitreous phenotypes recognized in the Stickler syndromes and show no signs of skeletal dysplasia or deafness (Richards et al., 2005).
Molecular Genetics
### Stickler Syndrome, Type I, Predominantly Ocular
In 3 families with a predominantly ocular form of type I Stickler syndrome, Richards et al. (2006) found 3 distinct mutations in the alternatively spliced exon 2 of the COL2A1 gene that segregated with the phenotype. The predominantly ocular form of type I Stickler syndrome was not confined, however, to mutations in exon 2; using splicing reporter constructs they demonstrated that a mutant GC donor splice site in intron 51 can be spliced normally, thus contributing to the predominantly ocular phenotype in the family in which it occurred (120140.0049).
In 3 unrelated patients with nonsyndromic ocular Stickler syndrome, McAlinden et al. (2008) identified 2 different heterozygous mutations in exon 2 of the COL2A1 gene (120140.0051; 120140.0052). In vitro studies using a minigene construct indicated that the mutations resulted in a splicing pattern change and a decreased ratio of IIA:IIB COL2A1 mRNA. The findings suggested that the mutations were present in functional cis regulatory elements in exon 2 that are important in regulating the mechanism of alternative splicing of this exon. McAlinden et al. (2008) postulated that these mutations did not result in nonsense-mediated decay and haploinsufficiency, but rather an altered mRNA splice ratio with effects limited to the eye. Absence of an extraocular phenotype in Stickler syndrome patients with mutations in exon 2 of COL2A1 may be due to sufficient production of isoform IIB by nonsense-mediated altered splicing. Since isoform IIA is expressed in adult ocular vitreous, the ocular phenotype may be due to inadequate amounts of isoform IIA in the mature eye.
### Rhegmatogenous Retinal Detachment
Go et al. (2003) investigated the clinical features and molecular causes of DRRD in 2 large families. They performed clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene, which is mutant in Stickler syndrome type 1, and the loci for Wagner disease/erosive vitreoretinopathy, high myopia mapping to chromosomes 18p11.31 (MYP2; 160700) and 12q21-q23 (MYP3; 603221), and nonsyndromic congenital retinal nonattachment (221900). Fifteen individuals from family A and 12 from family B showed RRD or retinal tears with minimal (family A) or no (family B) systemic characteristics of Stickler syndrome and no ocular features of Wagner disease or erosive vitreoretinopathy. RRD cosegregated fully with a chromosomal region harboring the COL2A1 gene with maximum lod scores of 6.09 (family A) and 4.97 (family B). In family B, an arg453-to-ter mutation in exon 30 of the COL2A1 gene (R453X; 120140.0045) was identified. In family A, DNA sequence analysis revealed no mutation in the coding region or at the splice sites of the COL2A1 gene. Go et al. (2003) remarked that it was surprising that family B harbored an R453X mutation, because all predominantly ocular Stickler syndrome cases reported to that time had been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing.
Richards et al. (2005) described a family with DRRD showing no systemic clinical signs (skeletal, orofacial, or auditory) usually associated with Stickler syndrome. Linkage analysis excluded the COL11A1 gene (120280) as the disease locus but could not exclude COL2A1. Mutation screening of COL2A1 identified a gly118-to-arg mutation in the COL2A1 gene (G118R; 120140.0046). Transfection of minigenes carrying mutations associated with DRRD into cultured cells detected no missplicing of mRNA from mutant constructs. Richards et al. (2005) concluded that mutations outside the alternatively spliced exon 2 region of COL2A1 could also result in an ocular-only phenotype. The absence of evidence that missplicing modified the phenotype of these mutations suggested that the minimal or absent systemic features demonstrated by the G118R and L467F (120140.0034) mutations were the result of the biophysical changes imparted on the collagen molecule.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Rhegmatogenous retinal detachment \- Lattice degeneration of the retina MISCELLANEOUS \- The systemic features typically seen in STL1 ( 108300 )are not present MOLECULAR BASIS \- Caused by mutation in the collagen, type II, alpha-1 gene (COL2A1, 120140.0034 ) ▲ 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
|
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
|
c1836081
| 25,916 |
omim
|
https://www.omim.org/entry/609508
| 2019-09-22T16:05:59 |
{"mesh": ["C563710"], "omim": ["609508"], "orphanet": ["209867", "90653", "828"], "synonyms": ["Alternative titles", "STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR", "STICKLER SYNDROME, ATYPICAL"]}
|
Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.
Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. The most common noncancerous tumors associated with this condition are papillomas, which are small, wart-like growths that usually develop around the nose and mouth or near the anus. The most common cancerous tumor associated with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor that arises in developing nerve cells, also has been reported in children and adolescents with this syndrome. In addition, some teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is usually seen in older adults.
The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, the conditions can be distinguished by their genetic cause and by specific patterns of signs and symptoms that develop later in childhood.
## Frequency
This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.
## Causes
Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.
Some people with signs and symptoms like those of Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with one another and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms.
### Learn more about the gene associated with Costello syndrome
* HRAS
## Inheritance Pattern
Costello syndrome is considered to be an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Costello syndrome
|
c0587248
| 25,917 |
medlineplus
|
https://medlineplus.gov/genetics/condition/costello-syndrome/
| 2021-01-27T08:25:41 |
{"gard": ["1550"], "mesh": ["D056685"], "omim": ["218040"], "synonyms": []}
|
A number sign (#) is used with this entry because this form of autism, designated AUTS17, is associated with heterozygous mutation in the SHANK2 gene (603290) on chromosome 11q13.
Description
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.
Clinical Features
Autism spectrum disorder (ASD) and mental retardation are 2 clinically distinct neurodevelopmental disorders with a complex genetic etiology. However, both show a high degree of heritability and can occur either as isolated entities or as a combined phenotype. About 40% of individuals with ASD have some form of developmental delay or mental retardation, suggesting a common underlying etiology (summary by Berkel et al., 2010).
Molecular Genetics
By genomewide microarray scan for copy number variants (CNV) in a German cohort of 184 unrelated individuals with mental retardation and a series of 396 Canadian individuals with ASD, Berkel et al. (2010) found 1 patient in each cohort who had a de novo deletion in the SHANK2 gene: a deletion of 120 kb (603290.0001) and 69 kb (603290.0002), respectively. The clinical report indicated that both patients had ASD of comparable severity as well as mild to moderate mental retardation. CNVs in the SHANK2 gene were not observed in 5,023 matched controls. Both deletions disrupt the highly conserved PDZ domain, leading to a frameshift mutation and presumably causing haploinsufficiency. Sequencing of the SHANK2 gene identified another ASD patient with a de novo nonsense mutation (R462X; 603290.0003). In addition, 6 missense mutations and a 6-bp duplication were found in the SHANK2 gene in individuals with either ASD or mental retardation, and not in 659 controls. All of these variants were inherited from an unaffected parent, although 2 transmitting parents had depression and/or anxiety. Berkel et al. (2010) suggested that these inherited rare variants may show incomplete penetrance, but that the significance was uncertain. Overall, the findings indicated that disruption of the SHANK2 gene, which plays a role in postsynaptic scaffolding, may affect synaptic function and predispose to autism or mental retardation.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
AUTISM, SUSCEPTIBILITY TO, 17
|
c3150693
| 25,918 |
omim
|
https://www.omim.org/entry/613436
| 2019-09-22T15:58:49 |
{"omim": ["613436"]}
|
Hyperpigmentation
SpecialtyDermatology
Hyperpigmentation is the darkening of an area of skin or nails caused by increased melanin.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Causes[edit]
Hyperpigmentation can be caused by sun damage, inflammation, or other skin injuries, including those related to acne vulgaris.[1][2][3]:854 People with darker skin tones are more prone to hyperpigmentation, especially with excess sun exposure.[4]
Many forms of hyperpigmentation are caused by an excess production of melanin.[4] Hyperpigmentation can be diffuse or focal, affecting such areas as the face and the back of the hands. Melanin is produced by melanocytes at the lower layer of the epidermis. Melanin is a class of pigment responsible for producing colour in the body in places such as the eyes, skin, and hair. As the body ages, melanocyte distribution becomes less diffuse and its regulation less controlled by the body. UV light stimulates melanocyte activity, and where concentration of the cells is greater, hyperpigmentation occurs. Another form of hyperpigmentation is post inflammatory hyperpigmentation. These are dark and discoloured spots that appear on the skin following acne that has healed.[5]
Hyperpigmentation is associated with a number of diseases or conditions, including the following:
* Addison's disease and other sources of adrenal insufficiency, in which hormones that stimulate melanin synthesis, such as melanocyte-stimulating hormone (MSH), are frequently elevated.
* Cushing's disease or other excessive adrenocorticotropic hormone (ACTH) production, because MSH production is a byproduct of ACTH synthesis from proopiomelanocortin (POMC).
* Acanthosis nigricans—hyperpigmentation of intertriginous areas associated with insulin resistance.
* Melasma, also known as 'chloasma' or the “mask of pregnancy,” when it occurs in pregnant women.— It is a common skin problem that causes dark discolored patchy hyperpigmentation. It typically occurs on the face and is symmetrical, with matching marks on both sides of the face. The condition is much more common in women than men, though men can get it too. According to the American Academy of Dermatology, 90 percent of people who develop melasma are women.[6]
* Acne scarring from post-inflammatory hyperpigmentation
* Linea nigra—a hyperpigmented line found on the abdomen during pregnancy.
* Peutz–Jeghers syndrome—an autosomal dominant disorder characterized by hyperpigmented macules on the lips and oral mucosa and gastrointestinal polyps.
* Exposure to certain chemicals such as salicylic acid, bleomycin, and cisplatin.
* Smoker's melanosis
* Coeliac disease
* Cronkhite–Canada syndrome
* Porphyria
* Tinea fungal infections such as ringworm
* Haemochromatosis—a common but debilitating genetic disorder characterized by the chronic accumulation of iron in the body.
* Mercury poisoning—particularly cases of cutaneous exposure resulting from the topical application of mercurial ointments or skin-whitening creams.
* Aromatase deficiency
* Nelson's syndrome
* Graves' disease
* Schimke immunoosseous dysplasia (SOID)[7]
* As a result of tinea cruris.
Hyperpigmentation can sometimes be induced by dermatological laser procedures.
## Diagnosis[edit]
* A physical examination including, Wood's lamp examination and a detailed history, usually sufficient for diagnosis.
* Skin examination.
* Viewing medical history.
## Treatment[edit]
There are a wide range of depigmenting treatments used for hyperpigmentation conditions, and responses to most are variable.[8]
Most often treatment of hyperpigmentation caused by melanin overproduction (such as melasma, acne scarring, liver spots) includes the use of topical depigmenting agents, which vary in their efficacy and safety, as well as in prescription rules.[9] Several are prescription only in the US, especially in high doses, such as hydroquinone, azelaic acid,[10] and koijic acid.[11] Some are available without prescription, such as niacinamide,[12][13] or cysteamine hydrochloride.[14][15] Hydroquinone was the most commonly prescribed hyperpigmentation treatment before the long-term safety concerns were raised,[16] and the use of it became more regulated in several countries and discouraged in general by WHO.[17] For the US only 2% is at present sold over-the-counter, and 4% needs prescription. In the EU hydroquinone was banned from cosmetic applications.[18] Oral medication with procyanidin plus vitamins A, C, and E also shows promise as safe and effective for epidermal melasma. In an 8-week randomized, double-blind, placebo-controlled trial in 56 Filipino women, treatment was associated with significant improvements in the left and right malar regions, and was safe and well tolerated.[19] Other treatments that do not involve topical agents are also available, including fraction lasers[20] and dermabrasion.[9]
## See also[edit]
* Hypopigmentation
* List of skin conditions
* Drug-induced pigmentation
## References[edit]
1. ^ "Hyperpigmentation". Dermatalogic Disease Database. American Osteopathic College of Dermatology. Retrieved 2006-03-08.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
4. ^ a b Chandra, M; Levitt, J; Pensabene, CA (May 2012). "Hydroquinone therapy for post-inflammatory hyperpigmentation secondary to acne: not just prescribable by dermatologists". Acta Dermato-Venerologica. 92 (3): 232–5. doi:10.2340/00015555-1225. PMID 22002814.
5. ^ Hyperpigmentation on Face (Acne Scars) Hyperpigmentation, Dark Spots, Acne Scars, Meladerm".
6. ^ "Melasma". American Academy of Dermatology, Inc.
7. ^ "Schimke immunoosseous dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-03-13.
8. ^ Gupta, AK; Gover, MD; Nouri, K; Taylor, S (December 2006). "The treatment of melasma: a review of clinical trials". Journal of the American Academy of Dermatology. 55 (6): 1048–65. doi:10.1016/j.jaad.2006.02.009. PMID 17097400.
9. ^ a b "Variety of options available to treat pigmentation problems | American Academy of Dermatology". www.aad.org. Retrieved 2017-02-12.
10. ^ Mazurek, Klaudia; Pierzchała, Ewa (2016-09-01). "Comparison of efficacy of products containing azelaic acid in melasma treatment". Journal of Cosmetic Dermatology. 15 (3): 269–282. doi:10.1111/jocd.12217. ISSN 1473-2165. PMID 27028014. S2CID 25303091.
11. ^ Monteiro, Rochelle C.; Kishore, B. Nanda; Bhat, Ramesh M.; Sukumar, D.; Martis, Jacintha; Ganesh, H. Kamath (2013-03-01). "A Comparative Study of the Efficacy of 4% Hydroquinone vs 0.75% Kojic Acid Cream in the Treatment of Facial Melasma". Indian Journal of Dermatology. 58 (2): 157. doi:10.4103/0019-5154.108070. ISSN 1998-3611. PMC 3657227. PMID 23716817.
12. ^ Hakozaki, T.; Minwalla, L.; Zhuang, J.; Chhoa, M.; Matsubara, A.; Miyamoto, K.; Greatens, A.; Hillebrand, G.G.; Bissett, D.L. (2002-07-01). "The effect of niacinamide on reducing cutaneous pigmentation and suppression of melanosome transfer". British Journal of Dermatology. 147 (1): 20–31. doi:10.1046/j.1365-2133.2002.04834.x. PMID 12100180. S2CID 39489580.
13. ^ "Spotlight On: Niacinamide - FutureDerm". FutureDerm. 2007-10-30. Retrieved 2017-02-12.
14. ^ Mansouri, P.; Farshi, S.; Hashemi, Z.; Kasraee, B. (2015-07-01). "Evaluation of the efficacy of cysteamine 5% cream in the treatment of epidermal melasma: a randomized double-blind placebo-controlled trial". The British Journal of Dermatology. 173 (1): 209–217. doi:10.1111/bjd.13424. ISSN 1365-2133. PMID 25251767. S2CID 21618233.
15. ^ "Cysteamine Cream® -- New Hyper Intensive Depigmenting Treatment". Scientis Pharma. Retrieved 2017-02-12.
16. ^ Draelos, Zoe Diana (2007-09-01). "Skin lightening preparations and the hydroquinone controversy". Dermatologic Therapy. 20 (5): 308–313. doi:10.1111/j.1529-8019.2007.00144.x. ISSN 1529-8019. PMID 18045355. S2CID 24913995.
17. ^ Hyrdoquinone Guidance published under the joint sponsorship of the United Nations Environment Programme, the International Labour Organisation, and the World Health Organization. World Health Organization. 1994. hdl:10665/39218. ISBN 9789241571579.
18. ^ "Hydroquinone - Substance evaluation - CoRAP - ECHA". echa.europa.eu. Retrieved 2017-02-12.
19. ^ Handog, Evangeline (2009-07-20). "A randomized, double-blind, placebo-controlled trial of oral procyanidin with Vitamins A, C, E for melasma among Filipino women". International Journal of Dermatology. 48 (8): 896–901. doi:10.1111/j.1365-4632.2009.04130.x. PMID 19659873. S2CID 28886093.
20. ^ "Laser Skin Whitening - Advantages and Disadvantages | Skin Whitening News". skinwhiteningnews.org. 2014-04-05. Retrieved 2017-02-12.
## External links[edit]
Classification
D
* ICD-10: L81.0-L81.4
* ICD-9-CM: 709.0
* MeSH: D017495
* DiseasesDB: 24638
Wikimedia Commons has media related to Hyperpigmentation.
* v
* t
* e
Pigmentation disorders/Dyschromia
Hypo-/
leucism
Loss of
melanocytes
Vitiligo
* Quadrichrome vitiligo
* Vitiligo ponctué
Syndromic
* Alezzandrini syndrome
* Vogt–Koyanagi–Harada syndrome
Melanocyte
development
* Piebaldism
* Waardenburg syndrome
* Tietz syndrome
Loss of melanin/
amelanism
Albinism
* Oculocutaneous albinism
* Ocular albinism
Melanosome
transfer
* Hermansky–Pudlak syndrome
* Chédiak–Higashi syndrome
* Griscelli syndrome
* Elejalde syndrome
* Griscelli syndrome type 2
* Griscelli syndrome type 3
Other
* Cross syndrome
* ABCD syndrome
* Albinism–deafness syndrome
* Idiopathic guttate hypomelanosis
* Phylloid hypomelanosis
* Progressive macular hypomelanosis
Leukoderma w/o
hypomelanosis
* Vasospastic macule
* Woronoff's ring
* Nevus anemicus
Ungrouped
* Nevus depigmentosus
* Postinflammatory hypopigmentation
* Pityriasis alba
* Vagabond's leukomelanoderma
* Yemenite deaf-blind hypopigmentation syndrome
* Wende–Bauckus syndrome
Hyper-
Melanin/
Melanosis/
Melanism
Reticulated
* Dermatopathia pigmentosa reticularis
* Pigmentatio reticularis faciei et colli
* Reticulate acropigmentation of Kitamura
* Reticular pigmented anomaly of the flexures
* Naegeli–Franceschetti–Jadassohn syndrome
* Dyskeratosis congenita
* X-linked reticulate pigmentary disorder
* Galli–Galli disease
* Revesz syndrome
Diffuse/
circumscribed
* Lentigo/Lentiginosis: Lentigo simplex
* Liver spot
* Centrofacial lentiginosis
* Generalized lentiginosis
* Inherited patterned lentiginosis in black persons
* Ink spot lentigo
* Lentigo maligna
* Mucosal lentigines
* Partial unilateral lentiginosis
* PUVA lentigines
* Melasma
* Erythema dyschromicum perstans
* Lichen planus pigmentosus
* Café au lait spot
* Poikiloderma (Poikiloderma of Civatte
* Poikiloderma vasculare atrophicans)
* Riehl melanosis
Linear
* Incontinentia pigmenti
* Scratch dermatitis
* Shiitake mushroom dermatitis
Other/
ungrouped
* Acanthosis nigricans
* Freckle
* Familial progressive hyperpigmentation
* Pallister–Killian syndrome
* Periorbital hyperpigmentation
* Photoleukomelanodermatitis of Kobori
* Postinflammatory hyperpigmentation
* Transient neonatal pustular melanosis
Other
pigments
Iron
* Hemochromatosis
* Iron metallic discoloration
* Pigmented purpuric dermatosis
* Schamberg disease
* Majocchi's disease
* Gougerot–Blum syndrome
* Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
* Lichen aureus
* Angioma serpiginosum
* Hemosiderin hyperpigmentation
Other
metals
* Argyria
* Chrysiasis
* Arsenic poisoning
* Lead poisoning
* Titanium metallic discoloration
Other
* Carotenosis
* Tar melanosis
Dyschromia
* Dyschromatosis symmetrica hereditaria
* Dyschromatosis universalis hereditaria
See also
* Skin color
* Skin whitening
* Tanning
* Sunless
* Tattoo
* removal
* Depigmentation
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hyperpigmentation
|
c0162834
| 25,919 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyperpigmentation
| 2021-01-18T18:29:27 |
{"mesh": ["D017495"], "umls": ["C0162834"], "icd-9": ["709.0"], "icd-10": ["L81.0"], "wikidata": ["Q1641068"]}
|
Hydroxyethyl starch-induced pruritus
SpecialtyDermatology
Hydroxyethyl starch-induced pruritus is an intense itching, lasting for as long as one year, occurring following hydroxyethyl starch intravenous infusion for vascular insufficiency.[1][2]:401There is no treatment for the itch.
An updated clinical review on storage in different tissues describes a pattern of storage in the reticuloendothelial system and also the skin (Wiedermann). Differential storage described via immuno-electron microscopy, see Ständer 2001 below.
## See also[edit]
* Pruritus
## References[edit]
1. ^ Bork K (2005). "Pruritus precipitated by hydroxyethyl starch: a review". British Journal of Dermatology. 152 (1): 3–12. doi:10.1111/j.1365-2133.2004.06272.x. PMID 15656795.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
## Further reading[edit]
* Wiedermann CJ, Joannidis M (2014). "Accumulation of hydroxyethyl starch in human and animal tissues: a systematic review". Intensive Care Med. 40 (2): 160–70. doi:10.1007/s00134-013-3156-9. PMID 24257970.
* Ständer S, Szépfalusi Z, Bohle B, Ständer H, Kraft D, Luger TA, Metze D (2001). "Differential storage of hydroxyethyl starch (HES) in the skin: an immunoelectron-microscopical long-term study". Cell Tissue Res. 304 (2): 261–9. doi:10.1007/s004410000324. PMID 11396719.
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hydroxyethyl starch-induced pruritus
|
None
| 25,920 |
wikipedia
|
https://en.wikipedia.org/wiki/Hydroxyethyl_starch-induced_pruritus
| 2021-01-18T18:33:53 |
{"wikidata": ["Q5955562"]}
|
Orotic aciduria
Other namesOrotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase (UMPS) deficiency[1]
Structure of orotic acid
SpecialtyHematology
SymptomsMegaloblastic anemia; developmental delays
CausesAutosomal recessive mutation of the UMPS gene
Differential diagnosisMitochondrial disorders; Lysinuric protein intolerance; liver disease[1]
TreatmentUridine triacetate
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines. It is the only known enzyme deficiency of the de novo pyrimidine synthesis pathway.[2]
Orotic aciduria is characterized by excessive excretion of orotic acid in urine because of the inability to convert orotic acid to UMP.[3][1] It causes megaloblastic anemia and may be associated with mental and physical developmental delays.
## Contents
* 1 Signs and symptoms
* 2 Cause and genetics
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Patients typically present with excessive orotic acid in the urine, failure to thrive, developmental delay, and megaloblastic anemia which cannot be cured by administration of vitamin B12 or folic acid.[3][2]
## Cause and genetics[edit]
Orotic aciduria has an autosomal recessive mode of inheritance.
This autosomal recessive disorder is caused by a deficiency in the enzyme UMPS,[4] a bifunctional protein that includes the enzyme activities of OPRT and ODC.[5] In one study of three patients, UMPS activity ranged from 2-7% of normal levels.[2]
Two types of orotic aciduria have been reported. Type I has a severe deficiency of both activities of UMP synthase. In Type II orotic aciduria, the ODC activity is deficient while OPRT activity is elevated. As of 1988, only one case of type II orotic aciduria had ever been reported.[2]
Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.[6]
## Diagnosis[edit]
Elevated urinary orotic acid levels can also arise secondary to blockage of the urea cycle, particularly in ornithine transcarbamylase deficiency (OTC deficiency). This can be distinguished from hereditary orotic aciduria by assessing blood ammonia levels and blood urea nitrogen (BUN). In OTC deficiency, hyperammonemia and decreased BUN are seen because the urea cycle is not functioning properly, but megaloblastic anemia will not occur because pyrimidine synthesis is not affected.[7] In orotic aciduria, the urea cycle is not affected.
Orotic aciduria can be diagnosed through genetic sequencing of the UMPS gene.[1]
## Treatment[edit]
Treatment is administration of uridine monophosphate (UMP) or uridine triacetate (which is converted to UMP). These medications will bypass the missing enzyme and provide the body with a source of pyrimidines.[3][1]
## References[edit]
1. ^ a b c d e "Orotic aciduria type 1". National Center for Advancing Translational Sciences. 13 Sep 2017. Retrieved 8 May 2018.
2. ^ a b c d Winkler, JK; Suttle, DP (July 1988). "Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts". American Journal of Human Genetics. 43 (1): 86–94. PMC 1715274. PMID 2837086.
3. ^ a b c Tao, Le (2017-01-02). First aid for the USMLE step 1 2017 : a student-to-student guide. Bhushan, Vikas,, Sochat, Matthew,, Kallianos, Kimberly,, Chavda, Yash,, Zureick, Andrew H. (Andrew Harrison), 1991-, Kalani, Mehboob. New York. ISBN 9781259837630. OCLC 948547794.
4. ^ Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y (Mar 1997). "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families". American Journal of Human Genetics. 60 (3): 525–539. ISSN 0002-9297. PMC 1712531. PMID 9042911.
5. ^ Donald., Voet (2013). Fundamentals of biochemistry : life at the molecular level. Voet, Judith G., Pratt, Charlotte W. (Fourth ed.). Hoboken, NJ: Wiley. ISBN 9780470547847. OCLC 738349533.
6. ^ Balasubramaniam, S; Duley, JA; Christodoulou, J (Sep 2014). "Inborn errors of pyrimidine metabolism: clinical update and therapy". Journal of Inherited Metabolic Disease. 37 (5): 687–98. doi:10.1007/s10545-014-9742-3. PMID 25030255.
7. ^ Wraith, J. E. (2001). "Ornithine carbamoyltransferase deficiency". Archives of Disease in Childhood. 84 (1): 84–88. doi:10.1136/adc.84.1.84. PMC 1718609. PMID 11124797.
## External links[edit]
Classification
D
* ICD-10: D53.0
* ICD-9-CM: 281.4
* OMIM: 258900 258920
* MeSH: C537136
* DiseasesDB: 29294
* SNOMED CT: 47641009
* v
* t
* e
Inborn error of purine–pyrimidine metabolism
Purine metabolism
Anabolism
* Adenylosuccinate lyase deficiency
* Adenosine Monophosphate Deaminase Deficiency type 1
Nucleotide salvage
* Lesch–Nyhan syndrome/Hyperuricemia
* Adenine phosphoribosyltransferase deficiency
Catabolism
* Adenosine deaminase deficiency
* Purine nucleoside phosphorylase deficiency
* Xanthinuria
* Gout
* Mitochondrial neurogastrointestinal encephalopathy syndrome
Pyrimidine metabolism
Anabolism
* Orotic aciduria
* Miller syndrome
Catabolism
* Dihydropyrimidine dehydrogenase deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Orotic aciduria
|
c0220987
| 25,921 |
wikipedia
|
https://en.wikipedia.org/wiki/Orotic_aciduria
| 2021-01-18T18:53:19 |
{"mesh": ["C537136"], "umls": ["C0220987", "C0268130"], "icd-9": ["281.4"], "icd-10": ["D53.0"], "orphanet": ["30"], "wikidata": ["Q3276506"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Anorectal abscess" – news · newspapers · books · scholar · JSTOR (August 2017) (Learn how and when to remove this template message)
Anorectal Abscess
Other namesPerianal/perirectal abscess
Anorectal abscess types and locations
SpecialtyGastroenterology
Anorectal abscess (also known as an anal/rectal abscess, or perianal/perirectal abscess) is an abscess adjacent to the anus.[1] Most cases of perianal abscesses are sporadic, though there are certain situations which elevate the risk for developing the disease, such as diabetes mellitus, Crohn's disease, chronic corticosteroid treatment and others. It arises as a complication of paraproctitis. Ischiorectal, inter- and intrasphincteric abscesses have been described.
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Cause
* 3 Diagnosis
* 3.1 Classification
* 3.2 Differential diagnosis
* 4 Treatment
* 5 Gallery
* 6 References
* 7 External links
## Signs and symptoms[edit]
Pain in the perianal area is the most common symptom of an anorectal abscess. The pain may be dull, aching, or throbbing. It is worst when the person sits down and right before a bowel movement. After the individual has a bowel movement, the pain usually lessens. Other signs and symptoms of anorectal abscess include constipation, drainage from the rectum, fever and chills, or a palpable mass near the anus.
painful perianal abscess
The condition can become extremely painful, and usually worsens over the course of just a few days. The pain may be limited and sporadic at first, but may worsen to a constant pain which can become very severe when body position is changed (e.g., when standing up, rolling over, and so forth). Depending upon the exact location of the abscess, there can also be excruciating pain during bowel movements, though this is not always the case. This condition may occur in isolation, but is frequently indicative of another underlying disorder, such as Crohn's disease.
### Complications[edit]
If left untreated, an anal fistula will almost certainly form, connecting the rectum to the skin. This requires more intensive surgery. Furthermore, any untreated abscess may (and most likely will) continue to expand, eventually becoming a serious systemic infection.
## Cause[edit]
Abscesses are caused by a high-density infection of (usually) common bacteria which collect in one place or another for any variety of reasons. Anal abscesses, without treatment, are likely to spread and affect other parts of the body, particularly the groin and rectal lumen. All abscesses can progress to serious generalized infections requiring lengthy hospitalizations if not treated.
Historically, many rectal abscesses are caused by bacteria common in the digestive system, such as E. coli. While this still continues often to be the case, there has recently been an increase in the causative organism being staphylococcus, as well as the difficult to treat community-acquired methicillin-resistant S. aureus. Because of the increasing appearance of more exotic bacteria in anal abscesses, microbiological examination will always be performed on the surgical exudate to determine the proper course of any antibiotic treatment.
## Diagnosis[edit]
MRI image of U-shaped fluid collection around the anus, showing perianal abscess formation.
Diagnosis of anorectal abscess begins with a medical history and physical exam. Imaging studies which can help determine the diagnosis in cases of a deep non-palpable perirectal abscess include pelvic CT scan, MRI or trans-rectal ultrasound. These studies are not necessary, though, in cases which the diagnosis can be made upon physical exam.
### Classification[edit]
Anorectal abscesses are classified according to their anatomic location and the following are the most common types; Perianal abscess, Ischiorectal abscess, Intersphincteric abscess and Supralevator abscess.[2][3]
Perianal abscess, which represents the most common type of anorectal abscesses accounting for about 60% of reported cases, are superficial collections of purulent material just beneath the skin of the anal canal.[4]
Ischiorectal abscess is formed when suppuration transverses the external anal sphincter into the ischiorectal space.[5]
Intersphincteric abscess results from suppuration contained between the internal and external anal sphincters .Supralevator abscess forms from cephalad extension of the intersphincteric abscess above the levator ani or from caudal extension of a suppurative abdominal process like appendicitis, diverticular or gynaecologic sepsis.
### Differential diagnosis[edit]
This condition is often initially misdiagnosed as hemorrhoids, since this is almost always the cause of any sudden anal discomfort. The presence of the abscess, however, is suspected when the pain quickly worsens over one or two days and usual hemorrhoid treatments are ineffective in bringing relief. Furthermore, any serious abscess will eventually begin to cause signs and symptoms of general infection, including fever and nighttime chills.
A physician can rule out a hemorrhoid with a simple visual inspection, and usually appreciate an abscess by touch.
## Treatment[edit]
Anal abscesses are rarely treated with a simple course of antibiotics. In almost all cases surgery will need to take place to remove the abscess. Treatment is possible in an emergency department under local anesthesia, but it is highly preferred to be formally admitted to a hospital and to have the surgery performed in an operating room under general anesthesia.
Generally speaking, a fairly small but deep incision is performed close to the root of the abscess. The surgeon will allow the abscess to drain its exudate and attempt to discover any other related lesions in the area. This is one of the most basic types of surgery, and is usually performed in less than thirty minutes by the anal surgical team. Generally, a portion of the exudate is sent for microbiological analysis to determine the type of infecting bacteria. The incision is not closed (stitched), as the damaged tissues must heal from the inside toward the skin over a period of time.
The affected individual is often sent home within twenty-four hours of the surgery, and may be instructed to perform several 'sitz baths' per day. These involve a small basin which is filled with warm water, and possibly with salts; usually fits over a toilet; and soaks the affected area for a period of time. Another method of recovery involves the use of surgical packing. The initial packing is inserted by the surgical team, with redressing generally performed by hospital staff or a district nurse. During the week following the surgery, many patients will have some form of antibiotic therapy, along with some form of pain management therapy, consistent with the nature of the abscess.
It is unclear whether internal packing of the perianal abscess influences time taken for healing, wound pain, development of fistulae, or abscess recurrence.[6]
The patient usually experiences an almost complete relief of the severe pain associated to his/her abscess upon waking from anesthesia; the pain associated with the opening and draining incision during the post-operative period is often mild in comparison.
## Gallery[edit]
Additional images of anorectal abscess
*
## References[edit]
1. ^ "The Iris Cantor Women's Health Center – Anal Abscess and Fistula".
2. ^ "Anorectal Abscess: Background, Anatomy, Pathophysiology". 2018-11-28. Cite journal requires `|journal=` (help)
3. ^ Janicke DM, Pundt MR (November 1996). "Anorectal disorders". Emerg. Med. Clin. North Am. 14 (4): 757–88. doi:10.1016/S0733-8627(05)70278-9. PMID 8921768.
4. ^ "Anorectal Abscess: Background, Anatomy, Pathophysiology". 2018-11-28. Cite journal requires `|journal=` (help)
5. ^ "Anorectal Abscess: Background, Anatomy, Pathophysiology". 2018-11-28. Cite journal requires `|journal=` (help)
6. ^ Smith, Stella R; Newton, Katy; Smith, Jennifer A; Dumville, Jo C; Iheozor-Ejiofor, Zipporah; Pearce, Lyndsay E; Barrow, Paul J; Hancock, Laura; Hill, James (2016-08-26). Cochrane Wounds Group (ed.). "Internal dressings for healing perianal abscess cavities". Cochrane Database of Systematic Reviews (8): CD011193. doi:10.1002/14651858.CD011193.pub2. PMID 27562822.
## External links[edit]
Classification
D
* ICD-10: K61.0
* ICD-9-CM: 566
* DiseasesDB: 32048
External resources
* MedlinePlus: 001519
* eMedicine: med/2733 emerg/494
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
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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
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*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Anorectal abscess
|
c0267567
| 25,922 |
wikipedia
|
https://en.wikipedia.org/wiki/Anorectal_abscess
| 2021-01-18T19:09:06 |
{"icd-9": ["566"], "icd-10": ["K61.0"], "wikidata": ["Q2071131"]}
|
A rather large number of families with multiple affected sibs and normal parents have been reported. Latta and Crittenden (1964) studied the hearts of 2 sibs (the seventh and eighth offspring) who died neonatally of congenital heart block. In neither was an atrioventricular node found, nor were myocardial fibers present in the lower part of the interatrial septum. Both hearts showed foci of calcification, fibrosis, increased vascularization and a few small accumulations of inflammatory cells. Thus, fetal infection (or autoimmune reaction, as discussed later) could have been responsible. In the same family, Crittenden et al. (1964) described 4 of 8 sibs with congenital heart block. A fifth may have been affected. One died at age 14 and the others died in the neonatal period. The parents were normal and of Czechoslovakian ancestry. No mention of consanguinity was made. Cannom and Hancock (1974) described a distinctive syndrome of cardiomyopathy, probably congenital, with mitral regurgitation, complete heart block, and atrial arrhythmia in 4 unrelated male patients. The disorder is relatively benign. No familial occurrence was observed. Congenital cardiomyopathy may be the basis for other instances of congenital complete heart block which might appear in an otherwise normal heart. This appears particularly likely in cases of associated atrial arrhythmia and atrioventricular block.
McCue et al. (1977) pointed out an important nongenetic cause of congenital heart block, which, furthermore, can show familial aggregation. Of 22 affected children, 14 were born to 11 mothers with clinical or laboratory evidence of connective tissue disease, mainly systemic lupus erythematosus (SLE; 152700). In adults with SLE, changes in connective tissue around the conduction system can lead to heart block. Placental transmission of antinuclear antibodies of the IgG class is documented. Newborns have been reported with transient skin lesions of lupus. Chameides et al. (1977) also observed familial congenital heart block on this basis. James et al. (1975) observed affected brother and sister and made anatomic observations on the latter. This is probably an example of simulation of mendelism by the effects of maternal autoimmunity. Parke and Rothfield (1985) pointed out that complete heart block appears to be due to transplacental passage of maternal IgG antibody to the RNP antigen Ro. They reported the presence of anti-Ro antibody in the serum of a woman with SLE who had 2 infants with congenital heart block. The improved understanding of the pathogenesis of congenital heart block makes understandable the histopathologic findings of Latta and Crittenden (1964), noted earlier, and also raises doubts about the existence of a mendelian form of congenital heart block. Reichlin et al. (1988) described a family in which an asymptomatic woman gave birth to a son who had complete congenital heart block and who, although clinically well at age 33, developed precipitating antibodies to the Ro/SSA antigen. In the mother, features of both SLE and Sjogren syndrome (270150) developed 26 years after the birth of her son. Deutscher et al. (1988) presented a molecular analysis of human Ro ribonucleoprotein by recombinant methods.
Behan et al. (1989) studied 10 patients with congenital heart block due to maternal autoantibodies, together with the mother and sibs in each case. The seropositive mother of 1 affected child had a similar conduction block (bifascicular block) to that in her affected child. None of the sibs had cardiac lesions. Six mothers had Ro or La antibody 5 to 17 years after the birth of the affected child. Four mothers examined 11 to 32 years after the birth of an affected child were seronegative. Three of the mothers had evidence of a connective tissue disorder. It is surprising that heart block develops in some pregnancies of these women. Behan et al. (1989) suggested that the sequence of events is as follows: before or during an early stage of pregnancy, the mother sustains a mild, perhaps unrecognized viral infection, to which she produces Ro or La antibodies. The virus crosses the placenta and damages the infant myocardium while a specific maternal antibody, also crossing the placenta, localizes in the same area. The infection in the child is self-limiting, but it may persist in the mother so that a series of infants are affected. The mother's heart may also be damaged. An obvious viral candidate is a Coxsackie virus, since these viruses are common causes of myocarditis, show sequence homology with some intracellular proteins, and may persist in connective tissue diseases such as dermatomyositis. Manthorpe and Manthorpe (1992) found 4 children with congenital complete heart block among the offspring of 91 Swedish mothers and 71 Danish mothers with primary Sjogren syndrome--a relative risk of about 500, making the incidence of congenital heart block in the general population to be 1 per 20,000. Julkunen et al. (1993) did a retrospective clinical study of 33 mothers at a mean period of 11.2 years after the delivery of their first child with congenital heart block. By the time of the analysis, 2 of the 33 mothers had died and 6 had met the criteria for SLE. As a group, the mothers had clinical and immunologic characteristics more closely related to primary systemic sclerosis than to SLE or any other connective tissue disease. The predominant autoantibody response was to the SS-A/Ro antigens, notably to the 52-kD SS-A/Ro protein (109092), which was present in 97%.
Orth et al. (1996) found increased autoantibody titers against human calreticulin (109091) in infants with complete congenital heart block.
Cooley et al. (1997) described 2 pairs of monozygotic twins discordant for congenital complete heart block. Both mothers were positive for anti-Ro 52 and anti-Ro 60 antibodies, and neither had anti-La antibody on immunoblot. These cases demonstrated that there can be discordance in the development of congenital complete heart block despite identical genetics and presumably very similar exposure to anti-Ro antibody.
Cardiac \- Congenital heart block \- Absent atrioventricular node \- Absent lower interatrial septal myocardial fibers \- Myocardial calcification \- Myocardial fibrosis \- Increased myocardial vascularization \- Cardiomyopathy \- Mitral regurgitation \- Atrial arrhythmia 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
|
HEART BLOCK, CONGENITAL
|
c3884338
| 25,923 |
omim
|
https://www.omim.org/entry/234700
| 2019-09-22T16:27:15 |
{"doid": ["990"], "mesh": ["C535758"], "omim": ["234700"], "icd-9": ["746.86"], "icd-10": ["Q24.6"], "orphanet": ["60041"]}
|
According to the National AIDS Programme Secretariat, the number of reported HIV/AIDS cases in Guyana has been reduced to 1% of the total population in 2009–2010, complying with the UNAIDS target of 1.3%. The reduction rate of HIV prevalence among women in Guyana has remain at 1% while those high risk persons such as homosexuals and sex workers have decreased. A national report on HIV/AIDS for 2009 reveals that over 105 thousand HIV/AIDS tests were conducted in Guyana.[1]
There are some 13,000 loggers in Guyana and they are a significant segment of the migrant worker population. With forests generally found in isolated areas, there can be a lack of regular access to both condoms and correct knowledge of how HIV is transmitted, which increases vulnerability to infection. Sex workers themselves are disproportionately affected by the virus with an HIV prevalence of around 16%, compared with an adult HIV prevalence in Guyana of 1.2%.[2]
There has been a steady decrease of HIV/AIDS cases from 2006–2011, recent research is revealing that there is a decrease in the number of persons being diagnosed with HIV/AIDS in Guyana. Research also showed that there has been a decrease in the rate of deaths from this disease(s). Over 350,000 persons were tested over a five-year period.[3] Premiere health agencies and organizations have reduced funding to Guyana since it is no longer has a threat of having a widespread HIV/AIDS epidemic. The Executive Director Dissiree Edghill explained that the major funding agencies are now looking at the high priority countries, since Guyana is no longer listed as a High Prevalence Country when it comes to HIV and AIDS.
“We have done a lot of work, we have seen very effective results for our efforts, the only set back is that our funding has been reduced since those HIV/AIDS infection rates in Guyana are not as high as it was during peak some years ago .” Edghill said. [4] If there is more funding to fighting HIV/AIDS it can use its medical resources to counter other health problems .
## References[edit]
1. ^ Hiv/Aids prevalence has been reduced locally to 1% between 2009–2010 Archived 2011-08-28 at the Wayback Machine. Ncnguyana.com. Retrieved on 2012-03-06.
2. ^ Feature story – Sex workers and loggers in Guyana challenge HIV together. Unaids.org (2011-01). Retrieved on 2012-03-06.
3. ^ Guyana records declining HIV/AIDS population : Kaieteur News. Kaieteurnewsonline.com (2011-08-06). Retrieved on 2012-03-06.
4. ^ Businesses urged to get on board HIV/Aids fight Archived 2012-07-11 at Archive.today. ncnguyana.com. 11 February 2012
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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
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*[COL]: Colombia
*[KAZ]: Kazakhstan
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*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
HIV/AIDS in Guyana
|
None
| 25,924 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Guyana
| 2021-01-18T19:05:05 |
{"wikidata": ["Q5629838"]}
|
Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. The symptoms of chromosomy 18p tetrasomy vary from case to case but may include abnormalities of the head and face (craniofacial) area, malformations of the spine, hands, and/or feet, neuromuscular abnormalities, kidney malformations, intellectual disability, speech delays, and behavioral abnormalities. In most cases, chromosome 18p tetrasomy is the result of a spontaneous (de novo) genetic change (mutation) early in fetal development during pregnancy. Although there is no specific treatment or cure for chromosome 18p tetrasomy, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Chromosome 18p tetrasomy
|
c0795868
| 25,925 |
gard
|
https://rarediseases.info.nih.gov/diseases/35/chromosome-18p-tetrasomy
| 2021-01-18T18:01:24 |
{"mesh": ["C538306"], "umls": ["C0795868"], "orphanet": ["3307"], "synonyms": ["Tetrasomy 18p", "Tetrasomy chromosome 18p", "Isochromosome 18p"]}
|
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
## Epidemiology
The prevalence is estimated to be less than 1/1,000,000.
## Clinical description
Affected infants born encased in a collodion membrane (taut, shiny, translucent membrane appearing as an extra skin layer) with armorlike plates, distributed throughout the body, which severely restrict movement. Facial features are distorted due to extreme ectropion, conjonctival edema, eclabium and broadened nose. Infants also present with contractures, synechiaes of auricles and/or toes with a possible risk of autoamputation. The risk of death is high during the neonatal period, babies being susceptible to severe temperature dysregulation, feeding difficulties, infections and respiratory problems. When they survive, the collodion membrane sheds after a few weeks and transforms into severe erythroderma with severe scaling and persistent ectropion. Other clinical features are often associated such as palmoplantar keratoderma, failure to thrive, short stature, malformed ears and digits, nail deformities and alopecia.
## Etiology
HI is due to recessive mutations in the ABCA12 gene encoding the ATP-binding cassette (ABC) transporter, involved in lipid transport from lamellar granules to the apical surface of granular layer keratinocytes. Genotype-phenotype correlation have been poorly elucidated but most mutations underlying HI are thought to lead to severe loss of ABCA12 protein function affecting important nucleotide-binding fold domains or transmembrane domains resulting in impaired lipid barrier function.
## Diagnostic methods
Diagnosis is based on clinical examination. Biopsy is not useful but reveals massive compact orthohyperkeratosis. Skin ultrastructure shows vesicular lamellar bodies ghosts and a paucity of secreted lamellar granules in the stratum corneum. Molecular analysis, if available, reveals ABCA12 mutations.
## Differential diagnosis
HI may be confused with the less severe appearance of collodion baby. Later in life, the differential diagnosis includes congenital ichthyosiform erythroderma (CIE), lethal restrictive dermopathy, infantile systemic hyalinosis, and Neu-Laxova syndrome (see these terms).
## Antenatal diagnosis
Prenatal diagnosis is mandatory and consists in DNA analysis of amniocentesis and chorion villus sampling materials, rather than fetal skin biopsies. Ultrasonography shows diffuse scaling, digital contractures, flattened rudimentary external ear, nasal hypoplasia, everted eyelids, typical fish mouth, open fetal mouth, and macroglossia.
## Genetic counseling
The disease is transmitted as an autosomal recessive trait. Genetic counseling should be offered to the affected families informing them of the 25% risk of recurrence.
## Management and treatment
In the neonatal period, management requires a multidisciplinary approach (ophthalmologists, surgeons, dieticians, and psychologists for family support). Gastrostomy may be necessary. Emollients and oral retinoids (1mg/kg/d) are recommended. It is important to keep invasive procedures to a minimum in order to avoid skin infections. Management of survivors is similar to management of severe CIE and includes use of emollients, keratolytics, and retinoids.
## Prognosis
HI is associated with substantial (<50%) morbidity and mortality soon after birth. Survivors have a normal life expectancy but may develop severe skin disease with eye complications related to persistent ectropion, with delayed developmental milestones, motor and social skills.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Harlequin ichthyosis
|
c0239849
| 25,926 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457
| 2021-01-23T18:31:00 |
{"gard": ["6568"], "mesh": ["D017490"], "omim": ["242500"], "umls": ["C0239849", "C0598226"], "icd-10": ["Q80.4"], "synonyms": ["HI", "Ichthyosis congenita, Harlequin type", "Ichthyosis fetalis, Harlequin type"]}
|
## Summary
### Clinical characteristics.
Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Hypercholesterolemia, hypertriglyceridemia, and acute pancreatitis can also be seen.
### Diagnosis/testing.
The diagnosis is established in an individual with clinical and laboratory features suggestive of LPI including elevated 24-hour urinary excretion of cationic amino acids, especially lysine. Identification of biallelic SLC7A7 pathogenic variants confirms the diagnosis.
### Management.
Treatment of manifestations: In acute hyperammonemic crises: intravenous administration of arginine chloride and nitrogen-scavenger drugs (sodium benzoate, sodium phenylacetate) to block ammonia production; reduction of excess nitrogen in the diet; provision of energy as carbohydrates to reduce catabolism. Long-term: dietary protein restriction; oral supplementation with citrulline and nitrogen-scavenger drugs, L-lysine-HCl, and carnitine; whole-lung lavage to improve respiratory function in persons with pulmonary alveolar proteinosis.
Prevention of primary manifestations: Long-term protein restriction and administration of citrulline and nitrogen-scavenging drugs.
Prevention of secondary complications: Minimize the risk of respiratory infections; vaccination against influenza is recommended. Varicella immunization in those without previous history of chickenpox or varicella zoster; treatment of those exposed as immune-compromised persons; revaccination may be required if poor response to polysaccharide-containing vaccines.
Surveillance: Plasma concentration of amino acids to identify deficiencies of essential amino acids secondary to protein-restricted diet; fasting and postprandial blood ammonia concentrations and attention to signs of hyperammonemia, urinary orotic acid excretion; periodic evaluation of renal function; evaluation of lung involvement; periodic serum LDH and ferritin.
Agents/circumstances to avoid: Large boluses of protein or amino acids.
Evaluation of relatives at risk: It is appropriate to evaluate at-risk sibs of a proband by molecular genetic testing or biochemical testing in order to reduce morbidity and mortality through early diagnosis and treatment.
### Genetic counseling.
LPI is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis for a pregnancy at increased risk are possible using molecular genetic techniques if both pathogenic variants have been identified in an affected family member.
## Diagnosis
### Suggestive Findings
Lysinuric protein intolerance (LPI) should be suspected in an infant who presents after weaning from breast milk or formula with the following features.
Early clinical features
* Recurrent vomiting with episodes of diarrhea
* Episodes of stupor and coma after a protein-rich meal
* Poor feeding
* Aversion to protein-rich food
* Failure to thrive
* Enlargement of the liver and spleen
* Muscular hypotonia
Later clinical features. In some individuals, the diagnosis is established in adulthood. Over time, additional clinical features appear:
* Poor growth
* Early (often severe) osteoporosis
* Subclinical or overt pulmonary involvement
* Renal involvement
* Hemophagocytic lymphohistiocytosis/macrophagic activation syndrome
Biochemical laboratory features
* Elevated plasma ammonia after a protein-rich meal. Fasting values are usually normal.
* Increased urinary orotic acid*
* Plasma amino acid concentrations:
* Cationic amino acid (lysine, arginine, and ornithine) concentrations are usually below normal for age, but may be within the normal range.
* Serine, glycine, citrulline, proline, alanine, and glutamine concentrations are increased.
* Urinary amino acid excretion. 24-hour urinary excretion of cationic amino acids, especially lysine, is increased.**
*Note: (1) In some affected individuals, elevated urinary orotic acid excretion occurs in the absence of hyperammonemia. (2) Urinary orotic acid excretion may be within the normal range if an untreated person has had a prolonged fast or has excluded protein-rich food from the diet.
**Note: (1) In some affected individuals, calculation of the renal clearances of cationic amino acids (lysine, arginine, and ornithine) may be necessary to clarify the urinary loss of these amino acids. (2) Renal clearance of an amino acid is calculated using the same formula as for creatinine clearance, but substituting creatinine values with values of 24-hour urinary amino acid excretion and of the fasting plasma amino acid concentrations. (3) Mean values and ranges of the renal clearances of cationic amino acids in individuals with LPI were reported in Simell [2001]. (4) Serine, glycine, citrulline, proline, alanine, and glutamine are found in excess in urine but have normal renal clearances.
Other laboratory features
* Plasma concentrations of LDH, ferritin, and zinc are usually elevated.
* Normochromic or hypochromic anemia, leukopenia, and thrombocytopenia are nonspecific hematologic findings.
* Hypertriglyceridemia and hypercholesterolemia are frequently observed.
### Establishing the Diagnosis
The diagnosis of LPI is established in a proband with the above clinical and laboratory features. Identification of biallelic pathogenic variants in SLC7A7 by molecular genetic testing confirms the diagnosis (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of LPI has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of LPI, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of SLC7A7 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.
Testing may begin with targeted analysis for the Finnish founder variant c.895-2A>T in individuals of Finnish ancestry or for the founder variant c.1228C>T in individuals of Japanese ancestry. For individuals of other ancestry, targeted analysis for a known recurrent pathogenic variant in those populations may be performed (see Molecular Genetics, Pathogenic variants).
* A multigene panel that includes SLC7A7 and other genes of interest (see Differential Diagnosis) may be considered to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of LPI is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible. Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Lysinuric Protein Intolerance (LPI)
View in own window
Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
SLC7A7Sequence analysis 392%-95% 4
Gene-targeted deletion/duplication analysis 515%-20% in non-Finnish populations
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\.
Presently, of around 400 alleles of persons in whom LPI is suspected, only around 5%-8% have not been characterized, giving a detection rate of approximately 92%-95%.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Sperandeo et al [2005], Cimbalistiene et al [2007], Sperandeo et al [2008], Font-Llitjós et al [2009], Esseghir et al [2011]
## Clinical Characteristics
### Clinical Description
Usually infants with lysinuric protein intolerance (LPI) present with gastrointestinal symptoms (feeding difficulties, vomiting, and diarrhea) soon after weaning from breast milk or formula.
Most affected infants show failure to thrive early in life. Neurologic presentation with episodes of coma is less common. Moderate hepatosplenomegaly is present. Muscular hypotonia and hypotrophy are observed from early infancy. Poor growth and delayed skeletal maturation are common after the first year of life. Osteoporosis may result in pathologic fractures.
Intellectual development is usually normal unless episodes of prolonged coma cause neurologic damage.
Classic symptoms of protein intolerance may remain unnoticed during the first and second decades of life because of subconscious avoidance of dietary protein.
Treatment with a low-protein diet and supplementation with citrulline and nitrogen-scavenging drugs (see Management, Treatment of Manifestations) significantly improve symptoms related to the metabolic abnormality. However, some complications, representing the major causes of morbidity and mortality, are not amenable to treatment.
### Complications
Lung disease. Progressive interstitial changes in the lung are frequently detected from early years without overt clinical symptoms. Progression to severe pulmonary alveolar proteinosis (PAP) is a well-known life-threatening complication, occurring as early as childhood in many individuals with LPI [Valimahamed-Mitha et al 2015, Mauhin et al 2017]. Pulmonary fibrosis may develop independently from PAP.
PAP usually presents with progressive exertional dyspnea, tachypnea, and cough that are exacerbated by respiratory infections and complicated by viral or bacterial pneumonia. Diminished breath sounds, inspiratory crackles, subcostal and suprasternal retractions, cyanosis, and, more rarely, digital clubbing can be found on physical examination.
Diffuse reticulonodular densities are common on radiologic evaluation. Chest high-resolution computed tomography reveals ground-glass opacities with superimposed smooth septal thickening.
The pathogenesis of the PAP in LPI is poorly understood, but may be associated with intracellular nitric oxide accumulation [Mauhin et al 2017].
Renal involvement. Glomerular and tubular involvement is common. Isolated mild proteinuria is the initial sign of renal disease leading to proximal tubular dysfunction and nephrocalcinosis [Estève et al 2017, Mauhin et al 2017]. Serum creatinine concentration and cystatin C concentration are frequently increased. In a study on 39 Finnish individuals with LPI, proteinuria and hematuria were observed in 74% and 38%, respectively. Elevated blood pressure, mild to moderate renal insufficiency, and, in some cases, end-stage renal disease were also reported in this cohort [Tanner et al 2007]. Urine beta2-microglobulin may serve as an early marker of renal involvement in LPI [Kärki et al 2016].
Renal tubular acidosis or findings consistent with reduced phosphate reabsorption and generalized aminoaciduria indicate underlying complex proximal tubular disease (Fanconi syndrome).
Kidney histology reveals immune-mediated glomerulonephritis as well as chronic tubulointerstitial nephritis with glomerulosclerosis in the absence of immune deposits [Estève et al 2017].
The pathogenesis of the renal involvement is unknown but may be associated with nitric oxide overproduction [Nicolas et al 2016].
Hematologic complications and bone marrow anomalies. A clinical presentation resembling hemophagocytic lymphohistiocytosis/macrophagic activation syndrome has been repeatedly observed.
Erythroblastophagocytosis and decreased megakaryocytes may be found in bone marrow aspirate. Hematologic findings also include slight normochromic or hypochromic anemia, leukopenia, thrombocytopenia, and subclinical intravascular coagulation.
Hypercholesterolemia and hypertriglyceridemia. Increased plasma concentrations of cholesterol and triglycerides are relatively common in individuals with LPI [Tanner et al 2010]. No clear explanation has been proposed for this dyslipidemic state; a higher-carbohydrate diet may contribute to the increased plasma concentration of triglycerides, but it is not sufficient to explain either the hypercholesterolemia or the severe hypertriglyceridemia (triglycerides >1,000 mg/dL or >11 mmol/L).
Autoimmunity and immunologic abnormalities. Various immunologic abnormalities including impaired function of lymphocytes, the presence of lupus erythematosus cells, antinuclear and anti-DNA antibodies, hypergammaglobulinemia or low serum immune globulin concentrations, hypocomplementemia, and life-threatening varicella and bacterial infections can be observed.
Growth, growth hormone deficiency. Growth retardation is commonly observed in children with LPI and is usually related to protein malnutrition. In some cases, growth hormone deficiency or arginine depletion causing impaired secretion of growth hormone is observed. Growth hormone has been used in several individuals with good response [Niinikoski et al 2011].
Pancreatitis. Acute pancreatitis is a life-threatening complication in some persons with LPI. A clear relationship with severe hypertriglyceridemia has not been defined.
Pregnancy and childbirth. A Finnish study demonstrated that maternal LPI is associated with increased risk of anemia and toxemia during pregnancy and increased risk of bleeding complications during delivery. Intrauterine growth retardation was noted in a significant number of unaffected neonates born to mothers with LPI [Tanner et al 2006].
Pathophysiology. LPI is an inborn error of metabolism caused by pathogenic variants in SLC7A7, the gene encoding the light chain of system y+L. This system mediates the transport of cationic amino acids at the basolateral membrane of enterocytes and renal tubular cells. Most of the clinical findings of LPI may be related to the metabolic abnormality originating from altered absorption and reabsorption of cationic amino acids. In this respect, hyperammonemia is caused by functional impairment of the urea cycle probably resulting from an intracellular deficiency of ornithine in the liver. However, nutritional imbalance of cationic amino acids does not explain the complex multiorgan involvement of LPI, especially the complications affecting lung, kidney, and immune and hematologic systems.
System y+L activity has been shown to be markedly reduced in monocytes and alveolar macrophages from an individual with LPI [Barilli et al 2010]. This could explain the pathogenesis of the severe complications of LPI including those affecting lung and kidney. A paradox may occur in LPI: on one hand, pathogenic variants in SLC7A7 cause a general depletion of cationic amino acid secondary to defective intestinal uptake and renal reuptake; additionally, in immunocompetent cells the impairment of system y+L activity may cause intracellular arginine accumulation, with a potential risk of surcharging the nitric oxide pathway [Sebastio et al 2011]. A lower dosage of citrulline supplementation is now recommended, given that citrulline is converted into arginine, notably in kidney.
### Genotype-Phenotype Correlations
Genotype-phenotype correlations have not been found.
Variable expressivity is observed in individuals of Finnish origin who are homozygous for the same founder variant.
In a large Italian pedigree, homozygosity for c.1381_1384dupATCA gave rise to different clinical presentations: severe short stature with pancreatic and renal involvement in a girl; early pulmonary alveolar proteinosis causing death in a boy; a very mild clinical presentation in another boy whose brother had a similar clinical picture but died suddenly after a flu-like episode [Sperandeo et al 2000]. The pathogenic variant c.726G>A was found in 13 individuals belonging to nine independent families from Italy, Morocco, and North Africa. Five of the 13 had a severe phenotype with pulmonary alveolar proteinosis [Sperandeo et al 2008].
In 35 individuals with LPI of Japanese ancestry, no correlation between genotype and phenotype was observed [Noguchi et al 2016].
### Nomenclature
Lysinuric protein intolerance has also been referred to as cationic aminoaciduria.
### Prevalence
More than 200 individuals with LPI have been reported; one third are of Finnish origin [Sperandeo et al 2008, Font-Llitjós et al 2009, Carpentieri et al 2015]. Isolated clusters of affected individuals have also been identified in southern Italy and Japan.
The disorder is found worldwide: individuals with LPI originate from at least 25 countries [Sperandeo et al 2008, Font-Llitjós et al 2009]. A founder effect for specific alleles underlies the observed occurrence of LPI in Finland (c.895-2A>T) and in Japan (c.1228C>T). Surprisingly, the variant c.1228C>T was also found in a Moroccan individual [Font-Llitjós et al 2009].
The incidence of LPI has been estimated at 1:60,000 newborns in Finland and 1:57,000 in Japan [Koizumi et al 2000].
## Differential Diagnosis
The phenotypic variability of lysinuric protein intolerance (LPI) has resulted in various misdiagnoses.
Hyperammonemia. Hyperammonemia and clinical manifestations related to it are shared by other metabolic diseases, notably the urea cycle disorders (see Urea Cycle Disorders Overview). Increased orotic aciduria and hyperexcretion of cationic amino acids help to distinguish LPI from other hyperammonemic conditions.
Lysosomal storage diseases (LSDs). Hepatosplenomegaly, interstitial lung disease, and hematologic manifestation may suggest LSDs.
Malabsorptive diseases. The occurrence of gastrointestinal symptoms (e.g., vomiting, diarrhea) as well as of hypoproteinemia and failure to thrive suggests celiac disease. LPI should be included in the differential diagnosis of malabsorptive diseases.
Hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Failure to thrive, hepatosplenomegaly, fever, hypertriglyceridemia, increased serum ferritin concentration, anemia, and other blood abnormalities suggest acquired or familial hemophagocytic lymphohistiocytosis.
Autoimmune disorders. Clinical and biochemical findings consistent with diagnosis of an autoimmune disorder such as systemic lupus erythematosus (SLE) were reported in individuals with LPI and, in some cases, were the presenting features.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease in an individual diagnosed with lysinuric protein intolerance, the following evaluations are recommended if they have not already been completed:
* History for evidence of hyperammonemic crises with overt neurologic manifestations (vomiting, drowsiness, coma) and of respiratory involvement (cough, dyspnea, recurrent lower respiratory tract infections)
* Neurologic evaluation to detect secondary neurologic damage
* Respiratory evaluation including chest x-ray, pulmonary high-resolution computed tomography, and pulmonary function tests
* Evaluation and follow up of growth parameters
* Liver and spleen ultrasound examination to monitor liver structural changes and spleen enlargement
* Hematologic evaluation (bone marrow aspirate may be required)
* Immunologic assessment including plasma concentrations of immune globulins and, when clinically indicated, detection of autoimmune antibodies and immune complexes
* Renal function studies
* Bone density evaluation
* Consultation with a biochemical geneticist and/or genetic counselor
### Treatment of Manifestations
The management of individuals with LPI is similar to that described in urea cycle disorders. In LPI, the severity of hyperammonemic crises rarely requires extreme treatments such as dialysis and hemofiltration. It is recommended that individuals with LPI be cared for by a specialized metabolic team.
#### Treatment of Acute Hyperammonemic Crises
Pharmacologic management. Blocking of ammonia production is accomplished by the intravenous administration of arginine chloride and of a combination of the nitrogen-scavenger drugs sodium phenylacetate and sodium benzoate. An intravenous loading dose is followed by an oral maintenance dose of nitrogen-scavenger drugs when the individual is stable. Depletion of branched chain amino acids (BCAAs) may occur as a consequence of the therapy with sodium phenylacetate [Scaglia 2010]. Persistence of BCAA deficiency hampers protein synthesis and induces catabolism. Therefore, careful evaluation of BCAA serum levels is recommended and specific supplementation may be required. Various detailed protocols for the treatment of intercurrent hyperammonemia in individuals with urea cycle disorders and (more generally) with hyperammonemia may be adopted [Häberle 2011].
Reducing the amount of excess nitrogen in the diet and reducing catabolism through the introduction of energy supplied by carbohydrates and fat. In acutely ill individuals, energy should be provided as carbohydrate and fat, either intravenously as glucose and Intralipid® or orally as protein-free formula.
Patients should be transitioned from parenteral to enteral feeds as soon as possible. Nasogastric tube feeding may be required to ensure adequate caloric and nutritional intake. Therapy with ondansetron can be started to decrease vomiting.
Complete restriction of protein for more than 24-48 hours is not recommended as the individual will become protein catabolic for essential amino acids.
#### Long-Term Treatment
Dietary protein restriction and citrulline supplementation. Current treatment consists of dietary protein restriction (0.8-1.5 g/kg/day in children and 0.5-0.8 g/kg/day in adults) and supplementation with citrulline (≤100 mg/kg/day, in 4 doses taken with meals). Nitrogen-scavenger drugs such as sodium benzoate (100-250 mg/kg/day in 4 divided doses) should be added to keep the lowest effective dosage of citrulline. As in the management of other inherited metabolic disorders, diet must be tailored on the basis of individual tolerance for the protein charge and carefully monitored to avoid disturbances of both growth and nutritional status.
Measurement of orotic aciduria appears to be a sensitive tool for adjustment of treatment.
Lysine supplementation. As lysine deficiency may contribute to the development of pathologic signs in LPI, oral supplementation with L-lysine-HCl should be attempted. Taking into account the defective intestinal absorption of lysine in LPI, small doses of L-lysine-HCl (20-30 mg/kg/day, in 3-4 doses per day) are given and may normalize plasma lysine concentrations [Tanner et al 2007].
Carnitine supplementation. In a survey of 37 affected individuals of Finnish ancestry, hypocarnitemia was found to be associated with female sex, renal insufficiency, and the use of ammonia-scavenging drugs. When documented, hypocarnitemia should be corrected (25-50 mg/kg/day) [Tanner et al 2008].
Additional therapies. In individuals with dyslipidemia, diet modification and fish oil supplementation should be tried before initiating pharmacologic treatment.
#### Treatment of Late Complications
While hyperammonemia can be efficiently prevented and treated, no effective therapy has been established for late complications.
Treatment of lung disease in LPI remains controversial: high-dose corticosteroid treatment was effective in a few patients when started early, whereas no response was noted in others.
In individuals with pulmonary alveolar proteinosis (PAP), treatment with granulocyte/monocyte colony-stimulating factor (GM-CSF) was shown to be ineffective or even to worsen the clinical course [Santamaria et al 2004]. However, in a Finnish study GM-CSF appeared to benefit two individuals with severe PAP [Tanner et al 2010]. Increased GM-CSF and decreased bioavailability of surfactant protein D have been proposed as a part of the mechanism underlying PAP in LPI [Douda et al 2009]. Whole-lung lavage remains the best therapeutic approach for PAP in LPI [Ceruti et al 2007]; however, relapses may require serial lavage.
Heart-lung transplantation was attempted with a temporary successful result, but it did not prevent a fatal return of the lung disease [Santamaria et al 2004].
Bone marrow transplantation has been discussed as a possible treatment for PAP in LPI. The rationale of this therapeutic approach would rely on the hypothesis of a defective function of lung macrophages [Barilli et al 2010, Sebastio et al 2011].
Treatment of renal disease in LPI should follow the standard guidelines under direction of the nephrologist.
Treatment of hemophagocytic lymphohistiocytosis / macrophagic activation syndrome in LPI should be formulated under the direction of a specialist.
### Prevention of Primary Manifestations
The prevention of metabolic abnormality is the goal of treatment. Long-term management is based on protein-restricted diet and administration of citrulline (see Treatment of Manifestations).
### Prevention of Secondary Complications
The onset and the clinical course of the secondary complications (e.g., lung and renal involvement) appear to be poorly responsive to early treatment.
Efforts to minimize the risk of respiratory infections should be promoted. Vaccination against influenza (and possibly pneumococci) is recommended.
An individual with LPI without previous history of chickenpox or varicella zoster should be vaccinated or, if exposed to varicella, treated as an immune-compromised person.
Some individuals with LPI may respond poorly to polysaccharide-containing vaccines. Therefore, revaccination may be required if specific antibody titers are non-protective.
### Surveillance
Individuals with LPI should be referred for follow up to physicians with expertise in the treatment of inborn errors of metabolism. The age of the patient and the severity of the clinical features determine the frequency of clinical visits and monitoring.
Monitoring should include the following:
* Plasma concentrations of amino acids to identify deficiencies of essential amino acids induced by the protein-restricted diet (similar to that used in urea cycle disorders)
* Attention to early signs of hyperammonemia including lethargy, nausea, vomiting, and poor feeding in young children, and headache and mood changes in older children
* Fasting and postprandial blood ammonia concentrations
* Urinary orotic acid excretion
* Evaluation of renal function
* Attention to early clinical signs of lung involvement
* Serum concentrations of LDH and ferritin
The development of a multiorgan pathology in LPI requires careful surveillance of several complications including lung and renal diseases and osteoporosis. No specific guidelines have been proposed. Therefore, a tailored approach is necessary for the follow up of a specific complication.
### Agents/Circumstances to Avoid
Large boluses of protein or amino acids should be avoided.
It is not clear whether prolonged fasting may trigger hyperammonemic crises.
### Evaluation of Relatives at Risk
It is appropriate to evaluate at-risk sibs of a proband in order to reduce morbidity and mortality through early diagnosis and treatment:
* If the pathogenic variants in the family are known, molecular genetic testing of at-risk sibs should be performed. Plasma and urine amino acid and urinary orotic acid analyses are recommended in individuals with suspected LPI while awaiting molecular genetic results.
* If the pathogenic variants in the family are not known, early diagnosis of at-risk sibs relies on detailed clinical evaluation and determination of plasma and urinary amino acid concentrations and orotic acid urinary excretion.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Pregnancy management should be performed in a center familiar with metabolic diseases. Frequent plasma amino acid and ammonia measurements are recommended as well as overall well-being of the mother and fetus. Most infants with LPI are born prematurely (between gestational weeks 31 and 39) [Tanner et al 2006]. Pregnant women with LPI are at risk of toxemia and bleeding complications during and after delivery.
See MotherToBaby for further information on medication use during pregnancy.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
### Other
No treatment, including strict compliance with dietary regimen, citrulline supplementation, or high-dose corticosteroids, is effective in influencing the clinical course of the renal disease.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
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*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
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Lysinuric Protein Intolerance
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https://www.ncbi.nlm.nih.gov/books/NBK1361/
| 2021-01-18T21:14:14 |
{"mesh": ["C562687"], "synonyms": []}
|
For other uses, see Rapid eye movement (disambiguation).
Rapid eye movement sleep behavior disorder
Other namesRBD, REM sleep behavior disorder
Play media
Sleep talking in a person with RBD
SpecialtyPsychiatry, Sleep medicine
Rapid eye movement sleep behavior disorder or REM behavior disorder (RBD) is a sleep disorder (more specifically a parasomnia) in which people act out their dreams. It involves abnormal behavior during the sleep phase with rapid eye movement (REM) sleep. The major feature of RBD is loss of muscle atonia (i.e., the loss of paralysis) during otherwise intact REM sleep (during which paralysis is not only normal but necessary). REM sleep is the stage of sleep in which most vivid dreaming occurs. The loss of motor inhibition leads to a wide spectrum of behavioral release during sleep. This extends from simple limb twitches to more complex integrated movement. These behaviors can be violent in nature and in some cases will result in injury to either the individual or their bedmates.[1][2]
RBD is a very strong predictor of progression to a synucleinopathy (usually Parkinson's disease or dementia with Lewy bodies).[3][4] Melatonin is useful in the treatment of RBD.[3] RBD was first described in 1986.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Differential
* 3.2 Classification
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 In animals
* 9 See also
* 10 References
* 11 Further reading
* 12 External links
## Symptoms[edit]
RBD is characterized by the dreamer acting out their dreams, with complex behaviors.[2] These dreams often involve screaming, shouting, laughing, crying, arm flailing, kicking, punching, choking, and even jumping out of bed. The actions in an episode can result in injuries to oneself or one's bedmate.[2][1] The sleeping person may be unaware of these movements.[2][1] Dreams often involve violent or aggressive actions, and an attack theme like being chased by people or animals. Because violence in dreams is more likely to be recalled, this could be an artifact of recall bias or selection bias.[1] The individual with RBD may not be aware of having it.[4]
In a normal sleep cycle, REM sleep may be experienced at intervals of between 90 minutes and two hours every night, which means RBD episodes may occur some four times a night. In a rare case, they may only happen once a week or once a month.[medical citation needed] Episodes occur more towards the morning hours because that is when REM sleep is more frequent. When awakened, people can usually recall the dream they were having, which will match the actions they were performing.[5]
As the first indication of an underlying neurodegenerative disorder, symptoms of RBD may begin years or decades before other the onset of another condition.[2]
Almost half of those with Parkinson's, at least 88% of those with multiple system atrophy, and about 80% of people with Lewy body dementia have RBD.[1] RBD is a very strong predictor of progression to a synucleinopathy (for example, the Lewy body dementias).[3] On autopsy, up to 98% of individuals with polysomnography-confirmed RBD are found to have a synucleinopathy.[3]
Symptomatic RBD can also be associated with narcolepsy, Guillain Barre syndrome, limbic encephalitis, and Morvan's syndrome.[4]
Other symptoms found in patients with RBD are reduced motor abilities, posture and gait changes, mild cognitive impairment, alterations in the sense of smell, impairments in color vision, autonomic dysfunction (orthostatic hypotension, constipation, urinary problems and sexual dysfunction), and depression.[4]
## Causes[edit]
Rapid eye movement behavior disorder occurs when there is a loss of normal voluntary muscle atonia during REM sleep resulting in motor behavior in response to dream content. It can be caused by adverse reactions to certain drugs or during drug withdrawal; however, it is most often associated with the elderly and in those with neurodegenerative disorders such as Parkinson's disease and other neurodegenerative diseases, for example multiple system atrophy and the Lewy body dementias.[1][2]
The underlying cause of RBD is not well understood,[2] but it is likely that RBD is an early symptom of synucleinopathy rather than a separate disorder.[6] Brainstem circuits that control atonia during REM sleep may be damaged,[6] including those in the pontomedullary brainstem.[4] REM sleep circuits are located in caudal brainstem structures—the same structures that are known to lead to be implicated in the synucleinopathies.[6] Motor deficits like those seen in RBD are known to result from lesions in those circuits.[6]
Risk factors for developing RBD are a family history of acting out dreams, prior head injury, farming, exposure to pesticides, low education level, depression, and use of antidepressants.[4]
RBD has also been reported following cerebrovascular accident and neurinoma (tumor), indicating that damage to the brain stem area may precipitate RBD.[medical citation needed] RBD is usually chronic. However, it may be acute and sudden in onset if associated with drug treatment or withdrawal (particularly with alcohol withdrawal). Monoamine oxidase inhibitors, tricyclic antidepressants, Selective serotonin reuptake inhibitors, and noradrenergic antagonists can induce or aggravate RBD symptoms and should be avoided in individuals with RBD.[medical citation needed]
## Diagnosis[edit]
There are two ways to diagnose RBD: by documenting a history of complex, dream-enactment sleep behaviors, or by polysomnography recording of these behaviors along with REM sleep atonia loss.[2]
RBD may be established from clinical interview as well as several validated questionnaires, when sleep studies cannot be performed.[2][6] Questionnaires such as the Rapid Eye Movement (REM) sleep Behavior Disorder Screening Questionnaire (RBDSQ), the REM Sleep Behavior Questionnaires – Hong-Kong (RBD-HK), the Mayo Sleep Questionnaire (MSQ) and the Innsbruck REM Sleep Behavior Disorder Inventory are well-validated.[2]
Individuals with RBD may not be able to provide a history of dream enactment behavior, so bed partners are also consulted.[1][7] The REM Sleep Behavior Disorder Single-Question Screen offers diagnostic sensitivity and specificity in the absence of polysomnography with one question:[2]
> "Have you ever been told, or suspected yourself, that you seem to 'act out your dreams' while asleep (for example, punching, flailing your arms in the air, making running movements, etc.)?"[8]
### Differential[edit]
Other conditions are similar to RBD in that individuals exhibit excessive sleep movement and potentially violent behavior. Such disorders include non-REM parasomnias (sleepwalking, sleep terrors), periodic limb movement disorder, severe obstructive sleep apnea, and disassociative disorders.[4] Because of the similarities between the conditions, polysomnography plays an important role in confirming RBD diagnosis.
### Classification[edit]
RBD is a parasomnia. It is categorized as either idiopathic or symptomatic.[1] Idiopathic RBD is the term used when RBD is not associated with another ongoing neurological condition.[4] When it results from an identifiable underlying etiology, RBD is referred to as symptomatic RBD (and considered a symptom of the underlying disorder). Up to almost 92% of patients with idiopathic RBD will go on to develop a neurodegenerative disorder. The disorders most strongly associated with RBD are the synucleinopathies, particularly Parkinson's disease, dementia with Lewy bodies, and to a lesser extent, multiple system atrophy.[2][4]
The following diagnostic criteria for RBD are given by the International Classification of Sleep Disorders (ICSD-3):[9][10]
1. Repetition of vocalizations and/or complex motor behaviors during sleep
2. Polysomnography (PSG) show that these behaviors occur during REM sleep
3. If documentation of these behaviors by PSG is not possible, they must at least be assumed to take place during REM sleep based on records of dream enactment
4. REM sleep without atonia (RWA) can be seen in polysomnographic recordings
5. Episodes cannot be explained by another mental disorder, sleep disorder, substance abuse or medication
These ICSD criteria make sure that diagnosis of RBD can only be made with help of polysomnography.[10] This method is not available everywhere and so a lot of questionnaires have been developed for the screening of RBD.[10] However, these questionnaires only allow a preliminary diagnosis.[10]
## Treatment[edit]
RBD is treatable (even when the underlying synucleinopathies are not). Melatonin and clonazepam are the most frequently used,[2] and are comparably effective,[11] but melatonin offers a safer alternative, because clonazepam can produce undesirable side effects.[7] Other medications and treatments are available, but have only anecdotal evidence.[12]
Medications that may worsen RBD and should be stopped if possible are tramadol, mirtazapine, antidepressants, and beta blockers.[2]
In addition to medication, it is wise to secure the sleeper's environment by removing potentially dangerous objects from the bedroom and either place a cushion around the bed or move the mattress to the floor for added protection against injuries.[2] Some extreme sufferers sleep in a sleeping bag zipped up to their neck, and wear mittens so they can't unzip it until they awake in the morning.[13][14]
Patients are advised to maintain a normal sleep schedule, avoid sleep deprivation, and keep track of any sleepiness they may have. Treatment includes regulating neurologic symptoms and treating any other sleep disorders that might interfere with sleep. Sleep deprivation, alcohol, certain medications, and other sleep disorders can all increase RBD and should be avoided if possible.[15]
## Prognosis[edit]
Patients with RBD are at risk for sleep-related injury (SRI) : between 33% and 65% of RBD patients reported to have had sleep related injury to self or their partner.[16][17]
Most people with RBD will convert to a synucleinopathy—usually Parkinson's disease or dementia with Lewy bodies—within 4 to 9 years from diagnosis of RBD, and 11 to 16 years from onset of symptoms.[4] For patients with degenerative dementia, symptoms of RBD and/or sleep related injuries can decline over time.[17] Visuospatial and constructional impairments are also found in patient with idiopathic RBD who had no other neurological disorder.[18]
## Epidemiology[edit]
RBD prevalence as of 2017 is estimated to be 0.5–2% overall, and 5–13% of those aged 60 to 99.[1] It is more common in males overall, but equally frequent among men and women below the age of 50.[2] This may partially be due to a referral bias, as violent activity carried out by men is more likely to result in harm and injury and is more likely to be reported than injury to male bed partners by women, or it may reflect a true difference in prevalence as a result of genetic or androgenic factors. Typical onset is in the 50s or 60s.[2]
## History[edit]
In the 1960s and 1970s, Michel Jouvet described brain lesions in cats that led to loss of atonia in REM sleep.[2][19][20] Carlos Schenck and Mark Mahowald and their team in Minnesota first described RBD in 1986.[2][21]
## In animals[edit]
RBD has also been diagnosed in animals; specifically dogs.[22]
## See also[edit]
* Sleepwalk with Me
* Pseudobulbar affect
* Gelastic seizure
## References[edit]
1. ^ a b c d e f g h i St Louis EK, Boeve AR, Boeve BF (May 2017). "REM Sleep Behavior Disorder in Parkinson's Disease and Other Synucleinopathies". Mov. Disord. (Review). 32 (5): 645–658. doi:10.1002/mds.27018. PMID 28513079.
2. ^ a b c d e f g h i j k l m n o p q r s St Louis EK, Boeve BF (November 2017). "REM Sleep Behavior Disorder: Diagnosis, Clinical Implications, and Future Directions". Mayo Clin. Proc. (Review). 92 (11): 1723–1736. doi:10.1016/j.mayocp.2017.09.007. PMC 6095693. PMID 29101940.
3. ^ a b c d Boot BP (2015). "Comprehensive treatment of dementia with Lewy bodies". Alzheimers Res Ther (Review). 7 (1): 45. doi:10.1186/s13195-015-0128-z. PMC 4448151. PMID 26029267. Lay summary – Family Practice News (April 17, 2013). Original study here.
4. ^ a b c d e f g h i j Arnaldi D, Antelmi E, St Louis EK, Postuma RB, Arnulf I (December 2017). "Idiopathic REM sleep behavior disorder and neurodegenerative risk: To tell or not to tell to the patient? How to minimize the risk?". Sleep Med Rev (Review). 36: 82–95. doi:10.1016/j.smrv.2016.11.002. PMID 28082168.
5. ^ "REM sleep behavior disorder - Symptoms and causes - Mayo Clinic". Retrieved 2019-07-11. "Movement, such as kicking, punching, arm flailing or jumping from bed, in response to action-filled or violent dreams, such as being chased or defending yourself from an attack ... Being able to recall the dream if you awaken during the episode"
6. ^ a b c d e McKenna D, Peever J (May 2017). "Degeneration of rapid eye movement sleep circuitry underlies rapid eye movement sleep behavior disorder". Mov. Disord. (review). 32 (5): 636–644. doi:10.1002/mds.27003. PMID 28394031.
7. ^ a b McKeith IG, Boeve BF, Dickson DW, et al. (July 2017). "Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium" (PDF). Neurology (Review). 89 (1): 88–100. doi:10.1212/WNL.0000000000004058. PMC 5496518. PMID 28592453.
8. ^ Tousi B (October 2017). "Diagnosis and management of cognitive and behavioral changes in dementia with Lewy bodies". Curr Treat Options Neurol (Review). 19 (11): 42. doi:10.1007/s11940-017-0478-x. PMID 28990131.
9. ^ American Academy of Sleep Medicine (2014). International classification of sleep disorders, 3rd edn. American Academy of Sleep Medicine, Darien, IL
10. ^ a b c d Högl, B., & Stefani, A. (2017). REM sleep behavior disorder (RBD): Update on diagnosis and treatment. Somnologie : Schlafforschung und Schlafmedizin = Somnology : sleep research and sleep medicine, 21(Suppl 1), 1–8. doi:10.1007/s11818-016-0048-6
11. ^ McCarter SJ, et al. (March 2013). "Treatment Outcomes in REM Sleep Behavior Disorder". Sleep Medicine (Review). 14 (3): 237–242. doi:10.1016/j.sleep.2012.09.018. PMC 3617579. PMID 23352028.
12. ^ Jung Y, St Louis EK (November 2016). "Treatment of REM Sleep Behavior Disorder". Curr Treat Options Neurol (Review). 18 (11): 50. doi:10.1007/s11940-016-0433-2. PMID 27752878.
13. ^ Birbiglia Mike and Ira Glass (2008-08-08). "Fear of Sleep". This American Life. Retrieved 2016-09-07.
14. ^ American Academy of Sleep Medicine (2012-01-26). "Sleepwalk with Me: Comedian's sleep disorder experience comes to film". sleepeducation.org. Retrieved 2016-09-07.
15. ^ Schutte-Rodin S. "REM Sleep Behavior Disorder". yoursleep.aasmnet.org. American Academy of Sleep Medicine. Retrieved 1 October 2011.
16. ^ Comella, C.L., Nardine T.M., Diederich N.J., Stebbins G.T. (1998). Sleep-related violence, injury, and REM sleep behavior disorder in Parkinson’s disease. Neurology. 51:526-9. doi:10.1212/wnl.51.2.526
17. ^ a b Boeve, B. F., Silber, M. H., Ferman, T. J., et al. (1998). REM sleep behavior disorder and degenerative dementia: an association likely reflecting Lewy body disease. Neurology. 51:363-70. doi:10.1212/wnl.51.2.363
18. ^ Ferini-Strambi, L., Di Gioia, M. R., Castronovo, V., Oldani, A., Zucconi, M., Cappa, S. F. (2004). Neuropsychological assessment in idiopathic REM sleep behavior disorder (RBD): Does the idiopathic form of RBD really exist? Neurology. 62:41-5. doi:10.1212/01.wnl.0000101726.69701.fa
19. ^ Jouvet M (April 1967). "Neurophysiology of the states of sleep". Physiol. Rev. (Review). 47 (2): 117–77. doi:10.1152/physrev.1967.47.2.117. PMID 5342870.
20. ^ Sakai K, Sastre JP, Salvert D, Touret M, Tohyama M, Jouvet M (November 1979). "Tegmentoreticular projections with special reference to the muscular atonia during paradoxical sleep in the cat: an HRP study". Brain Res. 176 (2): 233–54. doi:10.1016/0006-8993(79)90981-8. PMID 227527.
21. ^ Schenck CH, Bundlie SR, Ettinger MG, Mahowald MW (June 1986). "Chronic behavioral disorders of human REM sleep: a new category of parasomnia". Sleep. 9 (2): 293–308. doi:10.1093/sleep/9.2.293. PMID 3505730.
22. ^ Carey S (2001-02-13). "Dog with Rare Sleeping Disorder Sent Home After Unique Diagnosis at UF's Veterinary Medical Teaching Hospital". University of Florida. Retrieved 2010-01-02.
## Further reading[edit]
* Roguski A, Rayment D, Whone AL, Jones MW, Rolinski M (2020). "A Neurologist's Guide to REM Sleep Behavior Disorder". Front Neurol (Review). 11: 610. doi:10.3389/fneur.2020.00610. PMC 7360679. PMID 32733361.
* Josh T. "Bed Time Calculator Based On REM Cycles". Cite journal requires `|journal=` (help)
## External links[edit]
Classification
D
* ICD-10: G47.8
* ICD-10-CM: G47.52
* MeSH: D020447
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Rapid eye movement sleep behavior disorder
|
c0751772
| 25,928 |
wikipedia
|
https://en.wikipedia.org/wiki/Rapid_eye_movement_sleep_behavior_disorder
| 2021-01-18T18:49:44 |
{"mesh": ["D020187"], "umls": ["C0751772"], "icd-10": ["G47.8"], "wikidata": ["Q2103933"]}
|
Skeleton and bones - Vertebral column disorders - Normal Scoliosis Normal Lordosis Kyphosis
Spinal disease refers to a condition impairing the backbone.[1] These include various diseases of the back or spine ("dorso-"), such as kyphosis. Dorsalgia refers to back pain. Some other spinal diseases include spinal muscular atrophy, ankylosing spondylitis, lumbar spinal stenosis, spina bifida, spinal tumors, osteoporosis and cauda equina syndrome.
## Contents
* 1 Types
* 1.1 Scoliosis
* 1.2 Lumbar spinal stenosis
* 1.3 Spina bifida
* 1.4 Cauda equina syndrome
* 1.5 Tumors
* 2 References
* 3 External links
## Types[edit]
There are many recognized spinal diseases, some more common than others. Spinal disease also includes cervical spine diseases, which are diseases in the vertebrae of the neck. A lot of flexibility exists within the cervical spine and because of that, it is common for an individual to damage that area, especially over a long period of time. Some of the common cervical spine diseases include degenerative disc disease, cervical stenosis, and cervical disc herniation. Degenerative disc disease occurs over time when the discs within each vertebra in the neck begin to fall apart and begin to disintegrate. Because each vertebra can cause pain in different areas of the body, the pain from the disease can be sensed in the back, leg, neck area, or even the arms. When the spinal canal begins to lose its gap and gets thinner, it can cause pain in the neck, which can also cause a numb feeling in the arms and hands. Those are symptoms of cervical stenosis disease. The discs between each vertebra have fibers that can begin to deteriorate, and this can occur in cervical disc herniation. This disease is less common in younger people as it is usually a function of aging.[2]
### Scoliosis[edit]
Scoliosis is a common spinal disease in which the spine has a curvature usually in the shape of the letter "C" or "S". This is most common in girls, but there is no specific cause for scoliosis.[citation needed] Only a few symptoms occur for one with this disease, which include feeling tired in the spinal region or backaches. Generally, if the hips or shoulders are uneven, or if the spine curves, it is due to scoliosis and should be seen by a doctor.[3]
### Lumbar spinal stenosis[edit]
Lumbar spinal stenosis is classified as a narrowing of the spinal canal in the lumbar region of the vertebrae. This may lead to compression of the nerve root of the spinal cord and result in pain of the lower back and lower extremities. Other symptoms include impaired walking and a slightly stooped posture due to loss of disc height and bulging of the disc. Lumbar spinal stenosis is very prevalent with 9.3% of the general population producing symptoms and the number is continuing to rise in patients older than 60.[4] It's generally an indication for spinal surgery in patients older than 65 years of age.[5] However, there is a myth and fear among most patients that only surgery is the cure for such conditions and spine surgery is very risky. The good news is that there are many non-surgical treatments available to prevent, halt and even reverse many spine diseases. Also, in the hands of experienced, trained spine experts, the few well selected patients for surgery, often can be operated in a daycare procedure or with minimum length of stay in hospital, with excellent outcomes. This blog article gives a good summary of the non-surgical management of spine diseases. http://blog.shishirspine.com/2020/11/19/no-surgery-back-pain-treatment-before-choosing-surgery/
### Spina bifida[edit]
Spina bifida is the most common defect impacting the Central Nervous System (CNS). The most common and most severe form of Spina Bifida is Myelomeningocele. Individuals with Myelomeningocele are born with an incompletely fused spine, and therefore exposing the spinal cord through an opening in the back. In general, the higher the spinal lesion, the greater the functional impairment to the individual.[6] Symptoms may include bowel and bladder problems, weakness and/or loss of sensation below the level of the lesion, paralysis, or orthopedic issues. Severity of symptoms can vary per situation.[7]
### Cauda equina syndrome[edit]
Cauda equina syndrome is a rare syndrome that effects the spinal nerves in the region of the lower back called the cauda equine (Latin for "horses tail"). Injury to the cauda equine can have long lasting ramifications for the individual. Symptoms include lower back pain, bladder disturbances, bowel dysfunction, and anesthesia or paresthesia between the thighs. In order to prevent progressive neurological changes surgery can be a viable option.[8]
### Tumors[edit]
A spinal tumor is when unusual tissue begins growing and spreading in the spinal columns or spinal cords. The unusual tissue builds up from abnormal cells that multiply quickly in a specific region. Tumors generally are broken down into categories known as benign, meaning non-cancerous, or malignant, meaning cancerous, and also primary or secondary. Primary spinal tumors begin in either the spinal cord or spinal column, whereas secondary spinal tumors begin elsewhere and spread to the spinal region.[9] Symptoms for spinal tumors may vary due to factors such as the type of tumor, the region of the spine, and the health of the patient. Back pain is the most common symptom and it can be a problem if the pain is severe, has a time frame that lasts longer than it would for a normal injury, and becomes worse while laying down or at rest. Other symptoms, excluding back pains, are loss of muscle function, loss of bowel or bladder function, pain in the legs, scoliosis, or even unusual sensations in the legs.[9][10][11] The primary tumor has no known cause, although there are possible answers that scientists have researched. Cancer may be linked to genes because research shows that in certain families, the incidents of spinal tumors are higher. Two of the genetic disorders that may affect spinal tumors, include Von Hippel-Lindau disease and Neurofibromatosis 2. Von Hippel-Lindau disease is a non-cancerous tumor of blood vessels that occur in the brain, spinal cord, or even tumors in the kidneys. The Neuroflibromatosis 2 is a non-cancerous tumor that usually affects the nerves for hearing. Loss of hearing in one or both ears, is a common effect of this genetic disorder.[9]
## References[edit]
1. ^ "MedlinePlus: Spinal Diseases".
2. ^ "Cervical Spinal Disorders". Pacific Orthopaedic Associates. Pacific Orthopaedic Associates.
3. ^ Reynolds, Gretchen. "Scoliosis". New York Times.
4. ^ Ishimoto, Y.; Yoshimura, N.; Muraki, S.; Yamada, H.; Nagata, K.; Hashizume, H.; Takiguchi, N.; Minamide, A.; Oka, H.; Kawaguchi, H.; Nakamura, K.; Akune, T.; Yoshida, M. (2012). "Prevalence of symptomatic lumbar spinal stenosis and its association with physical performance in a population-based cohort in Japan: theWakayama Spine Study" (PDF). Osteoarthritis and Cartilage. 20 (10): 1103–1108. doi:10.1016/j.joca.2012.06.018. PMID 22796511.
5. ^ Katz, Jeffrey N.; Harris, Mitchel B. (2008-02-21). "Lumbar Spinal Stenosis". New England Journal of Medicine. 358 (8): 818–825. doi:10.1056/NEJMcp0708097. ISSN 0028-4793. PMID 18287604.
6. ^ Fletcher, Jack M.; Brei, Timothy J. (2010-01-01). "Introduction: Spina bifida—A multidisciplinary perspective". Developmental Disabilities Research Reviews. 16 (1): 1–5. doi:10.1002/ddrr.101. ISSN 1940-5529. PMC 3046545. PMID 20419765.
7. ^ Philadelphia, The Children's Hospital of (2014-03-30). "Spina Bifida". Retrieved 2017-04-04.
8. ^ Curley, A.E.; Kelleher, C.; Shortt, C.P.; Kiely, P.J. (2016-01-01). "Cauda Equina Syndrome: A case study and review of the literature". Physiotherapy Practice and Research. 37 (2): 111–117. doi:10.3233/ppr-160077. ISSN 2213-0683.
9. ^ a b c "Spinal Tumors". American Association Neurological Surgeons. American Association Neurological Surgeons.
10. ^ Reynolds, Gretchen. "Spinal Tumor". New York Times.
11. ^ Micheli, Lyle; Stein, Cynthia; O'Brien, Michael; d’Hemecourt, Pierre (23 November 2013). Spinal Injuries and Conditions in Young Athletes. Springer New York. doi:10.1007/978-1-4614-4753-5. ISBN 978-1-4614-4752-8.
## External links[edit]
Classification
D
* ICD-10: M40-M54
* ICD-9-CM: 720-724
* MeSH: D013122
* v
* t
* e
Spinal disease
Deforming
Spinal curvature
* Kyphosis
* Lordosis
* Scoliosis
Other
* Scheuermann's disease
* Torticollis
Spondylopathy
inflammatory
* Spondylitis
* Ankylosing spondylitis
* Sacroiliitis
* Discitis
* Spondylodiscitis
* Pott disease
non inflammatory
* Spondylosis
* Spondylolysis
* Spondylolisthesis
* Retrolisthesis
* Spinal stenosis
* Facet syndrome
Back pain
* Neck pain
* Upper back pain
* Low back pain
* Coccydynia
* Sciatica
* Radiculopathy
Intervertebral disc disorder
* Schmorl's nodes
* Degenerative disc disease
* Spinal disc herniation
* Facet joint arthrosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spinal disease
|
c0037933
| 25,929 |
wikipedia
|
https://en.wikipedia.org/wiki/Spinal_disease
| 2021-01-18T18:54:35 |
{"mesh": ["D013122"], "wikidata": ["Q7577457"]}
|
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Exothrix" – news · newspapers · books · scholar · JSTOR (September 2007) (Learn how and when to remove this template message)
Exothrix refers to Dermatophyte infections of the hair that infect the hair surface. This is in contrast to Endothrix, where a Dermatophyte mainly invades the hair shaft. Using an ultraviolet Wood's lamp, endothrix infections will not fluoresce whereas exothrix infections will.
## References[edit]
* v
* t
* e
Fungal infection and mesomycetozoea
Superficial and
cutaneous
(dermatomycosis):
Tinea = skin;
Piedra (exothrix/
endothrix) = hair
Ascomycota
Dermatophyte
(Dermatophytosis)
By location
* Tinea barbae/tinea capitis
* Kerion
* Tinea corporis
* Ringworm
* Dermatophytids
* Tinea cruris
* Tinea manuum
* Tinea pedis (athlete's foot)
* Tinea unguium/onychomycosis
* White superficial onychomycosis
* Distal subungual onychomycosis
* Proximal subungual onychomycosis
* Tinea corporis gladiatorum
* Tinea faciei
* Tinea imbricata
* Tinea incognito
* Favus
By organism
* Epidermophyton floccosum
* Microsporum canis
* Microsporum audouinii
* Trichophyton interdigitale/mentagrophytes
* Trichophyton tonsurans
* Trichophyton schoenleini
* Trichophyton rubrum
* Trichophyton verrucosum
Other
* Hortaea werneckii
* Tinea nigra
* Piedraia hortae
* Black piedra
Basidiomycota
* Malassezia furfur
* Tinea versicolor
* Pityrosporum folliculitis
* Trichosporon
* White piedra
Subcutaneous,
systemic,
and opportunistic
Ascomycota
Dimorphic
(yeast+mold)
Onygenales
* Coccidioides immitis/Coccidioides posadasii
* Coccidioidomycosis
* Disseminated coccidioidomycosis
* Primary cutaneous coccidioidomycosis. Primary pulmonary coccidioidomycosis
* Histoplasma capsulatum
* Histoplasmosis
* Primary cutaneous histoplasmosis
* Primary pulmonary histoplasmosis
* Progressive disseminated histoplasmosis
* Histoplasma duboisii
* African histoplasmosis
* Lacazia loboi
* Lobomycosis
* Paracoccidioides brasiliensis
* Paracoccidioidomycosis
Other
* Blastomyces dermatitidis
* Blastomycosis
* North American blastomycosis
* South American blastomycosis
* Sporothrix schenckii
* Sporotrichosis
* Talaromyces marneffei
* Talaromycosis
Yeast-like
* Candida albicans
* Candidiasis
* Oral
* Esophageal
* Vulvovaginal
* Chronic mucocutaneous
* Antibiotic candidiasis
* Candidal intertrigo
* Candidal onychomycosis
* Candidal paronychia
* Candidid
* Diaper candidiasis
* Congenital cutaneous candidiasis
* Perianal candidiasis
* Systemic candidiasis
* Erosio interdigitalis blastomycetica
* C. auris
* C. glabrata
* C. lusitaniae
* C. tropicalis
* Pneumocystis jirovecii
* Pneumocystosis
* Pneumocystis pneumonia
Mold-like
* Aspergillus
* Aspergillosis
* Aspergilloma
* Allergic bronchopulmonary aspergillosis
* Primary cutaneous aspergillosis
* Exophiala jeanselmei
* Eumycetoma
* Fonsecaea pedrosoi/Fonsecaea compacta/Phialophora verrucosa
* Chromoblastomycosis
* Geotrichum candidum
* Geotrichosis
* Pseudallescheria boydii
* Allescheriasis
Basidiomycota
* Cryptococcus neoformans
* Cryptococcosis
* Trichosporon spp
* Trichosporonosis
Zygomycota
(Zygomycosis)
Mucorales
(Mucormycosis)
* Rhizopus oryzae
* Mucor indicus
* Lichtheimia corymbifera
* Syncephalastrum racemosum
* Apophysomyces variabilis
Entomophthorales
(Entomophthoramycosis)
* Basidiobolus ranarum
* Basidiobolomycosis
* Conidiobolus coronatus/Conidiobolus incongruus
* Conidiobolomycosis
Microsporidia
(Microsporidiosis)
* Enterocytozoon bieneusi/Encephalitozoon intestinalis
Mesomycetozoea
* Rhinosporidium seeberi
* Rhinosporidiosis
Ungrouped
* Alternariosis
* Fungal folliculitis
* Fusarium
* Fusariosis
* Granuloma gluteale infantum
* Hyalohyphomycosis
* Otomycosis
* Phaeohyphomycosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Exothrix
|
None
| 25,930 |
wikipedia
|
https://en.wikipedia.org/wiki/Exothrix
| 2021-01-18T18:57:31 |
{"wikidata": ["Q5420699"]}
|
A number sign (#) is used with this entry because of evidence that immunodeficiency-42 (IMD42) is caused by homozygous mutation in the RORC gene (602943) on chromosome 1q21.
Description
Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015).
Clinical Features
Okada et al. (2015) reported 7 patients from 3 unrelated consanguineous families with an immunodeficiency disorder characterized by increased susceptibility to mycobacterial and candidal infections. All received BCG vaccinations in infancy, and most developed disseminated mycobacterial disease. Six of the 7 patients also had mucocutaneous candidiasis of varying severity. Additional features included absence of palpable axillary and cervical lymph nodes as well as reduced thymus size; some patients had hepatosplenomegaly. Laboratory studies showed a slight decrease in the number of T cells and absence of type 1 natural killer T (NKT) cells and mucosal-associated invariant T cells (MAIT). Patients also had very low levels of type 3 innate lymphoid cells (ILC3). B cells and NK cells were normal.
Inheritance
The transmission pattern of IMD42 in the families reported by Okada et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected members of 3 unrelated consanguineous families with immunodeficiency-42, Okada et al. (2015) identified 3 different homozygous mutations in the RORC gene (602943.0001-602943.0003). The mutations, which were found by a combination of linkage analysis and whole-exome sequencing, segregated with the disorder in the families. One of the mutations was a missense mutation, whereas the other 2 were nonsense mutations; all resulted in a complete loss of function, as demonstrated by in vitro functional expression studies. Patient lymphocytes showed impaired production of IL17A (603149), IL17F (606496), and IL22 (605330) at both the mRNA and protein levels, which likely contributed to chronic candidal infections. Although patient cells did not show impaired production of IFN-gamma (IFNG; 147570) in response to polyclonal stimulation, there was a selective defect in IFNG production by certain T-cell populations specifically in response to treatment with BCG plus IL12 (see 161560), which may have accounted for the mycobacterial disease in these patients. The phenotype was similar to that observed in Rorc-null mice (see ANIMAL MODEL).
Animal Model
Kurebayashi et al. (2000) found that homozygous-null RORC transgenic mice lacked peripheral and mesenteric lymph nodes and Peyer patches, indicating that RORC gene expression is indispensable for lymph node organogenesis. Although the spleen was enlarged, its architecture was normal. The thymus of Rorc -/- mice contained 74.4% fewer thymocytes than that of wildtype mice. Rorc -/- thymocytes placed in culture exhibited dramatic increase in the rate of 'spontaneous' apoptosis. The observations indicated that ROR-gamma is essential for lymphoid organogenesis and plays an important regulatory role in thymopoiesis.
INHERITANCE \- Autosomal recessive HEAD & NECK Mouth \- Thrush SKIN, NAILS, & HAIR Skin \- Intertrigo Nails \- Nail infections IMMUNOLOGY \- Increased susceptibility to candidal infections \- Increased susceptibility to mycobacterial infections \- Low T cells \- Absent type 1 NK T cells \- Absent mucosal associated invariant T cells \- Impaired production of IL17 \- Impaired production of interferon-gamma in response to mycobacterial infection \- Lack of peripheral lymphoid tissue \- Small thymus MISCELLANEOUS \- Onset in infancy \- Three unrelated families have been reported (last curated October 2015) MOLECULAR BASIS \- Caused by mutation in the RAR-related orphan receptor C gene (RORC, 602943.0001 ) ▲ 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
|
IMMUNODEFICIENCY 42
|
c4225266
| 25,931 |
omim
|
https://www.omim.org/entry/616622
| 2019-09-22T15:48:24 |
{"omim": ["616622"], "orphanet": ["477857"], "synonyms": ["Autosomal recessive MSMD due to complete RORgamma receptor defiency", "Autosomal recessive primary immunodeficiency due to RORC mutation"]}
|
MASA syndrome
Other namesMental retardation-aphasia-shuffling gait-adducted thumbs syndrome
This condition is inherited in an X-linked recessive manner.
SpecialtyNeurology
MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias[1] a paraplegia known to increase stiffness spasticity in the lower limbs.[2] This syndrome also has two other names, CRASH[3] syndrome and Gareis-Mason syndrome.
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Previous Cases
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 External links
## Signs and symptoms[edit]
The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs[4] characterized by cleft palate, microcephaly, and dysmyelination.[5] Affected males may also have a variable dilatation (widening) of the third heart ventricle.[4] MASA has five other factors including hydrocephalus. The build-up is often caused by an obstruction that prevents proper fluid drainage.[6] Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement.[7] Aphasia, which is when someone loses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled[8] disturbance in the brain. Lastly, agenesis of the corpus callosum, a rare congenital disorder. It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres.[9]
## Genetics[edit]
MASA syndrome has been associated with variants in the L1CAM gene[1] which is an axonal glycoprotein that is essential for normal development of the central and peripheral nervous systems during the fetal period and postnatally.[10] The symptoms are typically more intensive in males, due to the fact that males inherit only one X chromosome so a mutation in that one chromosome would cause the condition. Females are less likely to be affected because they have two X chromosomes. The prevalence is approximately 1 in 30,000 males. Fathers cannot pass the chromosomes to their sons, but only to their female offspring.[11]
## Previous Cases[edit]
The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia.[12] His family didn’t have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder. Since the L1 syndrome is composed of many X-linked disorders, more than one doctor or scientist may find the disorder in a person. Most of the doctors who find the disorder are Neuroscientists and some Pediatric Neurology specialists.
## Diagnosis[edit]
A diagnosis can be made when the clinical features have been identified, mainly the four common signs and symptoms. This can then be confirmed by single-gene sequencing, where the L1CAM gene is examined for any possible variations.[4]
A diagnostic test prior-to-birth is possible and very reliable when the mother is a carrier of the diseased allele. First, it's necessary to determine the fetus' sex and then study the X-chromosomes inherited from the mother. The probability of transferring the variant X-chromosome to the descendants is 50% regardless of the sex of the fetus (as illustrated by the figure). Male descendants who inherit the varied X-chromosome will express the symptoms of the syndrome, on the other hand females who inherit the varied X-chromosome will become carriers of the mutated gene and will not show any symptoms or clinical features of the syndrome.[13][14]
## Treatment[edit]
As of now, the only treatment for this disease is expertise in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics.[15] As some parts of the body can be damaged through time to time it can be useful to have the expertise to identify what other ways they can help for the complete health of the child.
## References[edit]
1. ^ a b Reference, Genetics Home. "L1 syndrome". Genetics Home Reference. Retrieved 2019-03-13.
2. ^ "MASA syndrome (Medical Condition)". Youtube. 2015-05-13. Retrieved 2020-04-19.
3. ^ "Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome". www.uniprot.org. Retrieved 2020-04-29.
4. ^ a b c Stumpel, Connie; Vos, Yvonne J. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "L1 Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301657, retrieved 2019-03-13
5. ^ Fitch, Naomi; Levy, Edith P. (1975). "Adducted thumb syndromes". Clinical Genetics. 8 (3): 190–198. doi:10.1111/j.1399-0004.1975.tb01493.x. ISSN 1399-0004. PMID 1175322.
6. ^ "Hydrocephalus: Causes, symptoms, and treatments". www.medicalnewstoday.com. Retrieved 2020-04-30.
7. ^ Gillis, Gary B. (2010-03-01). "Contracting Muscles Stiffen Their Aponeuroses". Journal of Experimental Biology. 213 (5): vi–vi. doi:10.1242/jeb.036442. ISSN 0022-0949.
8. ^ "Seizures - Symptoms and causes". Mayo Clinic. Retrieved 2020-04-30.
9. ^ "Agenesis of Corpus Callosum". NORD (National Organization for Rare Disorders). Retrieved 2020-04-30.
10. ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "MASA Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, The McGraw-Hill Companies, retrieved 2020-04-30
11. ^ Reference, Genetics Home. "L1 syndrome". Genetics Home Reference. Retrieved 2020-04-30.
12. ^ "First case of L1CAM gene mutation identified in MASA syndrome in Asia". Europe PMC. 31 May 2005. Retrieved 8 April 2020.
13. ^ Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273–84. doi:10.1159/000472311. PMID 8556302.
14. ^ "OMIM Entry - # 303350 - MASA SYNDROME". omim.org. Retrieved 2019-03-20.
15. ^ "L1 Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-04-30.
## External links[edit]
Classification
D
* ICD-10: G11.4
* OMIM: 303350
* MeSH: C536029
External resources
* GeneReviews: L1 Syndrome
* Orphanet: 2466
* MASA syndrome at NIH's Office of Rare Diseases
* GeneReview/NIH/UW entry on L1 Syndrome
* v
* t
* e
X-linked disorders
X-linked recessive
Immune
* Chronic granulomatous disease (CYBB)
* Wiskott–Aldrich syndrome
* X-linked severe combined immunodeficiency
* X-linked agammaglobulinemia
* Hyper-IgM syndrome type 1
* IPEX
* X-linked lymphoproliferative disease
* Properdin deficiency
Hematologic
* Haemophilia A
* Haemophilia B
* X-linked sideroblastic anemia
Endocrine
* Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy
* KAL1 Kallmann syndrome
* X-linked adrenal hypoplasia congenita
Metabolic
* Amino acid: Ornithine transcarbamylase deficiency
* Oculocerebrorenal syndrome
* Dyslipidemia: Adrenoleukodystrophy
* Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
* Pyruvate dehydrogenase deficiency
* Danon disease/glycogen storage disease Type IIb
* Lipid storage disorder: Fabry's disease
* Mucopolysaccharidosis: Hunter syndrome
* Purine–pyrimidine metabolism: Lesch–Nyhan syndrome
* Mineral: Menkes disease/Occipital horn syndrome
Nervous system
* X-linked intellectual disability: Coffin–Lowry syndrome
* MASA syndrome
* Alpha-thalassemia mental retardation syndrome
* Siderius X-linked mental retardation syndrome
* Eye disorders: Color blindness (red and green, but not blue)
* Ocular albinism (1)
* Norrie disease
* Choroideremia
* Other: Charcot–Marie–Tooth disease (CMTX2-3)
* Pelizaeus–Merzbacher disease
* SMAX2
Skin and related tissue
* Dyskeratosis congenita
* Hypohidrotic ectodermal dysplasia (EDA)
* X-linked ichthyosis
* X-linked endothelial corneal dystrophy
Neuromuscular
* Becker's muscular dystrophy/Duchenne
* Centronuclear myopathy (MTM1)
* Conradi–Hünermann syndrome
* Emery–Dreifuss muscular dystrophy 1
Urologic
* Alport syndrome
* Dent's disease
* X-linked nephrogenic diabetes insipidus
Bone/tooth
* AMELX Amelogenesis imperfecta
No primary system
* Barth syndrome
* McLeod syndrome
* Smith–Fineman–Myers syndrome
* Simpson–Golabi–Behmel syndrome
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X-linked dominant
* X-linked hypophosphatemia
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* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
MASA syndrome
|
c0795953
| 25,932 |
wikipedia
|
https://en.wikipedia.org/wiki/MASA_syndrome
| 2021-01-18T18:48:38 |
{"gard": ["6986"], "mesh": ["C536029"], "umls": ["C0795953"], "orphanet": ["2466", "275543"], "wikidata": ["Q6714500"]}
|
A number sign (#) is used with this entry because focal epilepsy and speech disorder (FESD) with or without mental retardation is caused by heterozygous mutation in the GRIN2A gene (138253) on chromosome 16p13.
Description
Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).
The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see 117100). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).
Clinical Features
Landau and Kleffner (1957) described 6 children with acquired aphasia and convulsive disorder. Ansink et al. (1989) found reports of more than 170 children with this condition. Characteristically, Landau-Kleffner syndrome (LKS) affects previously normal children who undergo a regression of receptive and/or expressive language abilities. The regression may be sudden or insidious and is not accompanied by any abnormal neurologic signs, impairment of hearing, or loss of cognitive ability. Males are more frequently affected than females by a ratio of 2:1; most children develop behavioral disturbances. It appears that the younger the child at the onset, the worse the prognosis is for eventual recovery. Some children are left with such severe auditory agnosia that they are unable to identify environmental sounds, such as a dog barking or a bird calling. In contrast, others recover completely, even after several episodes of aphasia. About one-half of patients are left with severe residual language deficits. The seizures are usually easily controlled by pharmacologic means and all children are seizure-free by age 15 years. All children with LKS, regardless of seizures, have abnormalities on EEG. Pairs of affected sibs were reported by Landau and Kleffner (1957) and by Nakano et al. (1989). Feekery et al. (1993) reported monozygotic twins discordant for LKS.
Huppke et al. (2005) reported an isolated case of Landau-Kleffner syndrome in a boy. Speech development was normal until 2.5 years, when he developed dysarthria. At age 3, he began to stutter and intermittently failed to respond to spoken words. Over the following years, he had 2- to 3-week period in which he only used sign language or spoke and reacted to speech normally. At age 6 years, he had a prolonged 2-month phase of no speech or reaction to words. Seizures were never noted. EEG at age 7 years showed bilateral temporal spike-wave discharges, and MRI showed bilateral perisylvian polymicrogyria. Treatment with sulthiame, a central carbonic anhydrase inhibitor, resulted in normalization of his speech behavior and EEG changes. Huppke et al. (2005) noted that most patients with LKS have normal brain imaging studies, but concluded that bilateral perisylvian polymicrogyria was the etiology of LKS in their patient.
Scheffer et al. (1995) described a syndrome of nocturnal partial seizures involving the face and an arm associated with oral dyspraxia and cognitive impairment in a family with 9 affected individuals in 3 generations. Clinically significant cognitive impairment was only obvious in the most recent generation. However, all affected individuals had oromotor apraxia with difficulty organizing and coordinating movements necessary to produce fluent speech but without dysarthria. There were also mild impairments of perceptive language. There were electroencephalographic similarities to benign rolandic epilepsy. The authors suggested that this disorder may be part of a spectrum, the extremes of which are represented by benign rolandic epilepsy, a mild disorder, and the more severe Landau-Kleffner or continuous spike and wave syndromes, which are more severe. Because of more severe impairments in the third generation, the authors suggested possible expansion of a triplet repeat. They further distinguished this disorder from autosomal dominant nocturnal frontal lobe epilepsy (600513) and familial temporal lobe epilepsy (600512). Carvill et al. (2013) reported follow-up of the family reported by Scheffer et al. (1995). Three patients had remission of seizures at age 13 years, whereas 3 had ongoing seizures. All had normal intellect, except for 2 with mild or borderline intellectual disability.
Kugler et al. (2008) reported a 3-generation pedigree in which 12 of 22 individuals were affected with at least 1 of 3 traits, including rolandic epilepsy, cognitive impairment, and a speech/sound disorder. Three illustrative case histories noted asymmetric facial seizures, language delay or speech difficulties with oromotor apraxia, and learning difficulties. Two patients had migraines. Some family members had dysdiadochokinesis, suggesting cerebellar involvement. There was no evidence of anticipation in this family. The inheritance pattern was autosomal dominant. Linkage was excluded from loci on chromosome 11p, 15q14, 16p12, and Xq22. Kugler et al. (2008) noted the phenotypic similarities to the family reported by Scheffer et al. (1995).
Endele et al. (2010) reported a Belgian family with epilepsy and neurodevelopmental defects, manifested as mental retardation or learning difficulties, that was associated with a heterozygous translocation t(16;17)(p13.2;q11.2) disrupting the GRIN2A gene. The proband was a 26-year-old man with a history of febrile seizures followed by tonic-clonic seizures and severe mental retardation. His father, paternal aunt, and cousin all had a history of generalized seizures with onset at the end of their first decade that spontaneously decreased during adolescence. All 4 family members had behavioral problems, and the cousin also had moderate mental retardation. EEG available from 3 of the patients showed bilateral spike-wave bursts with temporal predominance, diffuse slow and rapid dysrhythmia, and triphasic spike-waves with temporal predominance, respectively. Endele et al. (2010) also reported a German family in which a 4-year-old boy had mild to moderate mental retardation and abnormal EEG, but no overt seizures. He also had hypotonia, facial dysmorphism, and microcephaly. His mother had febrile seizures at age 11 months followed by focal seizures until age 3. EEG of the proband and his mother showed centrotemporal spikes, reminiscent of rolandic epilepsy. The maternal grandmother had a history of seizures in the first year of life that disappeared in adolescence. Both the mother and grandmother had learning difficulties. The authors also reported a 3-year-old French girl with severe mental retardation and early-onset epileptic spasms and myoclonic seizures. She also had hypotonia and behavioral abnormalities.
Carvill et al. (2013) reported a father and son with epileptic encephalopathy with continuous spike and wave in slow-wave sleep. The patients had onset of seizures in early childhood, remission of seizures in adolescence, and mild to moderate intellectual disability. Both showed developmental regression after seizure onset. The father had focal dyscognitive and tonic-clonic seizures, whereas the son had rolandic seizures. Both had speech and language difficulties. Carvill et al. (2013) reported another family with an overlapping phenotype. Two sibs were diagnosed with intermediate epilepsy aphasia disorder, and a third with CSWS. Two had mild globally delayed early development with regression and mild intellectual disability, and the third had normal development with mild borderline intellectual disability. All had speech and language difficulties. Their mother had learning difficulties and speech/language disorder. Carvill et al. (2013) also reported 2 sisters with Landau-Kleffner syndrome with onset of seizures in early childhood, mild intellectual disability, and speech and language difficulties. Seizures in 1 sister remitted at age 2.5 years, whereas seizures in the other sister were ongoing at age 7 years. Both had normal early development with regression after seizure onset. EEG in both showed continuous centrotemporal spikes, apparent in sleep in 1 patient.
Lesca et al. (2013) reported a 3-generation French family in which the proband presented with typical LKS. He had onset of nocturnal and partial seizures at age 4 years, delayed language and language regression, mild cognitive impairment during the acute phase, and status epilepticus during slow-wave sleep. He had a favorable neurologic outcome at age 26 years and no autistic features. Family history revealed that several relatives had either atypical rolandic epilepsy or CSWS with onset in early childhood and often associated with impaired speech and developmental regression. EEG was abnormal in all affected family members, showing either centrotemporal spikes or status epilepticus during slow-wave sleep. Eight additional families with LKS, CSWS, or atypical rolandic epilepsy, often associated with verbal dyspraxia, were subsequently identified. Seizure onset occurred between ages 2 and 6 years, and seizure types included nocturnal, partial, complex partial, febrile, and generalized tonic-clonic. Although motor and cognitive regression was common, most patients had a favorable neurologic outcome. Some individuals showed initial developmental delay, presumably before seizure onset. EEG showed centrotemporal spikes and/or status epilepticus during slow-wave sleep. Lesca et al. (2013) also identified 6 unrelated patients with apparently sporadic LKS or CSWS and 1 patient with sporadic atypical rolandic epilepsy. Two had delayed initial development, whereas the others showed regression only after onset of seizures in early childhood. Almost all had mild cognitive impairment, about half had a slow or poor neurologic outcome, and 4 had persistent behavioral abnormalities, including autistic features and attention deficit-hyperactivity disorder. EEG in all showed centrotemporal spikes or ECSWS.
Turner et al. (2015) analyzed the speech phenotype associated with GRIN2A mutations in 11 individuals, aged 16 to 64 years, from 3 families, all of whom had previously been reported (Scheffer et al., 1995; Tsai et al., 2013; Carvill et al., 2013). Affected individuals had dysarthria and vocal dyspraxia with lifelong impact on speech intelligibility in some. Speech was characterized by imprecise articulation (100%), impaired pitch (monopitch, 91%) and prosody (stress errors, 64%), and hypernasality (64%). Other findings included oral motor impairments and poor performance on maximum vowel duration (73%), repetition of monosyllables (91%), and trisyllables (64%). Deficits in language skills were evident before seizure onset in 8 of 10 patients, suggesting that epileptiform abnormalities were not the cause of language impairment. The speech phenotype was also present in 1 individual who did not have seizures, reinforcing an important role for GRIN2A in motor speech function.
Cytogenetics
Reutlinger et al. (2010) reported 3 unrelated patients with different deletions of chromosome 16p13 including the GRIN2A gene who had early-onset focal epilepsy, severe intellectual disability, and lack of speech or delayed speech development. EEG available from 2 patients showed centrotemporal spikes, reminiscent of rolandic epilepsy, and electrical status epilepticus in sleep (ESES). All showed delayed global development from birth or early infancy. All had variable dysmorphic features, including low-set ears, epicanthal folds, hypertelorism, deep-set eyes, broad nasal tip, short nose, and brachydactyly. Genomewide screening for structural genomic variants identified 3 different deletions, ranging in size from 980 kb to 2.6 Mb, in the 3 patients. Two of the deletions were confirmed to be de novo; parental samples from the third patient were unavailable. The only gene located in the critical shared region of all 3 patients was GRIN2A.
Inheritance
The transmission pattern of FESD in the 3-generation family reported by Kugler et al. (2008) was consistent with autosomal dominant inheritance.
Molecular Genetics
In a proband, mother, and grandmother from a German family with childhood seizures and variable neurodevelopmental defects ranging from mental retardation to learning difficulties, Endele et al. (2010) identified a heterozygous mutation in the GRIN2A gene (Q218X; 138253.0001), resulting in a loss of function. In a 3-year-old French girl with severe mental retardation, the authors identified a heterozygous de novo mutation (N615K; 138253.0002) in the GRIN2A gene. The N615K-mutant protein was demonstrated to exert a dominant-negative effect, which may have explained the severe phenotype.
Lesca et al. (2013) examined the role of the GRIN2A gene in 66 probands with LKS or CSWS. Heterozygous inherited or de novo mutations (see, e.g., 138253.0008-138253.0010) were found in 7 of 7 families and in 6 of 59 patients with sporadic disease. Segregation studies in the families showed that some mutation carriers had atypical rolandic epilepsy. Two mutation carriers reportedly had benign childhood epilepsy. Most mutation carriers had dysphasia or verbal dyspraxia. Some mutation carriers were unaffected, indicating incomplete penetrance. Heterozygous GRIN2A mutations were subsequently found in 2 families with atypical rolandic epilepsy. One family with a mutation in the SRPX2 gene (300642.0001; Roll et al., 2006; 300643) also carried a heterozygous GRIN2A mutation. In total, 14 point mutations and 2 small deletions involving the GRIN2A gene (15 kb and 75 kb, respectively) were identified. Functional studies showed that 2 of the missense mutations caused a significant increase in the open time and a decrease in the closed time of NMDA channels compared to wildtype, consistent with a modulatory effect on the excitatory postsynaptic current. GRIN2A mutations were located in different domains of the protein, and there were no apparent genotype/phenotype correlations. Lesca et al. (2013) concluded that GRIN2A mutations represent a major genetic determinant of LKS and CSWS, as well as related epileptic disorders in the same clinical continuum, such as atypical rolandic epilepsy and speech impairment.
Lemke et al. (2013) identified heterozygous mutations in the GRIN2A gene (see, e.g., 138253.0005; 138253.0011-138253.0013) in 27 (7.5%) of 359 patients from 2 independent cohorts with idiopathic focal epilepsy syndromes, including Landau-Kleffner syndrome, CSWS, atypical rolandic epilepsy, and benign epilepsy of childhood with centrotemporal spikes (BECTS; 117100). Mutations occurred at a significantly higher frequency in patients compared to the Exome Variant Server (0.6%; p = 4.83 x 10(-18)) or in controls of European ancestry (p = 1.18 x 10(-16)). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12 (4.9%) of 245 individuals with BECTS to 9 (17.6%) of 51 with LKS/CSWS. Splice site, truncating, and frameshift mutations were more commonly associated with the more severe phenotypes, and missense mutations were more commonly associated with the more benign phenotypes. Segregation status was available for 18 families. The mutations segregated with a phenotype of different epileptic disorders within the families, ranging from BECTS to learning disabilities and intellectual disability to atypical rolandic epilepsy and CSWS; some mutations carriers were unaffected. Exon-disrupting microdeletions of the GRIN2A gene were also found in 3 (1%) of 286 individuals screened for copy number variations. The findings indicated that alterations of the GRIN2A gene are a major genetic risk factor for various types of idiopathic focal epilepsy.
By sequence analysis of the GRIN2A gene in 519 probands with a range of epileptic encephalopathies, Carvill et al. (2013) identified heterozygous mutations in 4 probands, all of whom came from the cohort of 44 patients with epilepsy-aphasia syndromes (9% of probands with epilepsy-aphasia syndromes). One of the probands was from the family reported by Scheffer et al. (1995), and a heterozygous splice site mutation (138253.0005) segregated with the disorder in all 7 patients in this family. Two affected members of an unrelated family with epileptic encephalopathy with continuous spike and wave in slow-wave sleep also carried this mutation. Both were Australian families of European descent, and haplotype analysis indicated a founder effect. Turner et al. (2015) reported that genealogic work indicated that the 2 families with the splice site mutation reported by Scheffer et al. (1995) and Carvill et al. (2013) were in fact related. In 3 sibs from another family with CSWS or intermediate epilepsy-aphasia disorder, Carvill et al. (2013) identified a different heterozygous mutation (138253.0007). The fourth family with a GRIN2A mutation was diagnosed with LKS. The findings indicated that GRIN2A mutations can be associated with a wide range of epilepsy-aphasia spectrum phenotypes. No GRIN2A mutations were found in 475 patients with other epileptic encephalopathy phenotypes or in 81 patients with BECTS.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Delayed cognitive development (in some patients) \- Mental retardation (in some patients) \- Learning difficulties \- Seizures, focal \- Rolandic epilepsy \- Speech and language difficulties \- Verbal dyspraxia \- Dysphasia \- Secondary seizures (in some patients) \- Other seizure types (in some patients) \- EEG shows centrotemporal spike-wave discharges \- Continuous spike-waves during slow-wave sleep Behavioral Psychiatric Manifestations \- Autistic features \- Attention deficit MISCELLANEOUS \- Onset of seizures in infancy or early childhood \- Seizures may remit in adolescence \- Highly variable severity \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the ionotropic N-methyl-D-aspartate glutamate receptor subunit 2A gene (GRIN2A, 138253.0001 ) ▲ 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
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
c0376532
| 25,933 |
omim
|
https://www.omim.org/entry/245570
| 2019-09-22T16:26:00 |
{"doid": ["2538"], "mesh": ["D019305"], "omim": ["245570"], "icd-10": ["G40.8"], "orphanet": ["1945", "98818", "725", "163721"], "synonyms": ["Alternative titles", "APHASIA, ACQUIRED, WITH EPILEPSY"], "genereviews": ["NBK385627"]}
|
A number sign (#) is used with this entry because of evidence that atrial septal defect-8 (ASD8) can be caused by heterozygous mutation in the CITED2 gene (602937) on chromosome 6q23.3.
For discussion of genetic heterogeneity of atrial septal defect, see ASD1 (108800).
Molecular Genetics
Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, and a 6-bp deletion (602937.0003) in a patient with a sinus venosus atrial septal defect and abnormal pulmonary venous return to the right atria. Functional analysis of the mutations, which were not found in controls, revealed that both significantly reduced the capacity of CITED2 to transrepress HIF1A (603348).
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Atrial septal defect, secundum type (in some patients) \- Atrial septal defect, sinus venosus type (in some patients) Vascular \- Abnormal pulmonary venous return to right atria (in some patients) MOLECULAR BASIS \- Caused by mutation in the CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 gene (CITED2, 602937.0001 ) ▲ 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
|
ATRIAL SEPTAL DEFECT 8
|
c0018817
| 25,934 |
omim
|
https://www.omim.org/entry/614433
| 2019-09-22T15:55:18 |
{"doid": ["0110113"], "mesh": ["D006344"], "omim": ["614433"], "orphanet": ["1478"]}
|
A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Argininemia
|
c0268548
| 25,935 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90
| 2021-01-23T17:21:30 |
{"gard": ["5840"], "mesh": ["D020162"], "omim": ["207800"], "umls": ["C0268548"], "icd-10": ["E72.2"], "synonyms": ["Arginase deficiency", "Hyperargininemia"]}
|
A number sign (#) is used with this entry because of evidence that Gabriele-de Vries syndrome (GADEVS) is caused by heterozygous mutation in the YY1 gene (600013) on chromosome 14q32.
Description
Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).
Clinical Features
Gabriele et al. (2017) reported 10 unrelated patients, ranging in age from 1 to 39 years, with a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most had mild intrauterine growth retardation. The phenotype was highly variable; some patients started walking around 15 months of age, had mild cognitive impairment, and could attend special schools, whereas at least 1 patient had severe cognitive impairment, was nonverbal, and started walking at age 6.5 years. Most had speech delay, and about half had behavioral problems, such as anxiety and autistic features. Common dysmorphic facial features included facial asymmetry, broad forehead, simple and posteriorly rotated ears, periorbital fullness, downslanting palpebral fissures, strabismus, full nasal tip, malar flattening, indented upper lip, and thick lower lip. Features observed in only a few patients included pointed chin, high palate, ptosis, sparse eyebrows, and micrognathia. Most patients had feeding difficulties and mild distal skeletal abnormalities; some had abnormal movement, such as tremor, dystonia, and waddling gait. Variable additional features were also found in 1 or 2 patients: craniosynostosis, extensible skin, lacrimal duct stenosis, esophageal atresia, hypothyroidism, tooth abnormalities, and cryptorchidism. Five patients had nonspecific abnormal brain imaging showing delayed myelination, frontal gliosis, white matter abnormalities, and/or enlarged ventricles.
Cytogenetics
Gabriele et al. (2017) identified 13 unrelated individuals with de novo heterozygous deletions of chromosome 14q involving the YY1 gene and other genes. The deletions ranged in size from 75 kb to 13 Mb, and over half also overlapped with the UPD(14) gene cluster, resulting in a maternal or paternal UPD(14) phenotype (608149). The phenotype overlapped with that observed in patients with point mutations in the YY1 gene.
Molecular Genetics
In 10 unrelated patients with Gabriele-de Vries syndrome, Gabriele et al. (2017) identified 10 different de novo heterozygous missense or truncating mutations in the YY1 gene (see, e.g., 600013.0001-600013.0005). The missense mutations affected conserved residues in the zinc finger DNA-binding domains. One of the patients had originally been identified by Vissers et al. (2010) in a family-based exome sequencing study of 10 case-parent trios of de novo mental retardation. The mutation in the second patient reported by Gabriele et al. (2017) was found by targeted sequencing of the YY1 gene in 500 individuals with intellectual disability; the remaining mutations were found by exome sequencing of a total cohort of 14,969 individuals with intellectual disability. Chromatin immunoprecipitation studies of lymphoblastoid cells derived from 2 patients with missense mutations and 1 patient with a truncating mutation showed a marked global loss of YY1 DNA binding compared to controls, indicating haploinsufficiency as the pathogenic mechanism, even for missense mutations. Patient samples showed a marked decrease in H3K27 acetylation of YY1-bound active enhancers, as well as an increase in H3K27 methylation, which is associated with repression. Patient cells showed differential expression, usually downregulation, of certain target genes, including those involved in other neurodevelopmental disorders. The findings indicated that the disorder results from dysregulation of key transcriptional regulators.
INHERITANCE \- Autosomal dominant GROWTH Other \- Intrauterine growth retardation, mild HEAD & NECK Face \- Facial asymmetry \- Broad forehead \- Malar flattening \- Pointed chin Ears \- Simple ears \- Posteriorly rotated ears Eyes \- Periorbital fullness \- Downslanting palpebral fissures \- Strabismus Nose \- Full nasal tip Mouth \- Indented upper lip \- Thick lower lip Teeth \- Tooth abnormalities ABDOMEN Gastrointestinal \- Feeding difficulties GENITOURINARY External Genitalia (Male) \- Cryptorchidism SKELETAL Hands \- Long fingers \- Finger joint laxity NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Speech delay \- Abnormal movements (in some patients) \- Tremor \- Dystonia \- Waddling gait \- Nonspecific abnormalities seen on brain imaging \- Delayed myelination \- White matter abnormalities \- Enlarged ventricles Behavioral Psychiatric Manifestations \- Behavioral abnormalities \- Autistic features MISCELLANEOUS \- Highly variable phenotype \- Additional variable congenital abnormalities may occur \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the transcription factor YY1 gene (YY1, 600013.0001 ) ▲ 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
|
GABRIELE-DE VRIES SYNDROME
|
c4479652
| 25,936 |
omim
|
https://www.omim.org/entry/617557
| 2019-09-22T15:45:37 |
{"omim": ["617557"], "orphanet": ["506358"], "synonyms": ["YY1 haploinsufficiency syndrome"], "genereviews": ["NBK541730"]}
|
Primary gonococcal dermatitis
SpecialtyInfectious disease/dermatology
Primary gonococcal dermatitis is a rare infection of the skin that occurs after primary inoculation of the skin from an infected focus.[1]:277
## See also[edit]
* Gonococcemia
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Primary gonococcal dermatitis
|
c0151175
| 25,937 |
wikipedia
|
https://en.wikipedia.org/wiki/Primary_gonococcal_dermatitis
| 2021-01-18T19:08:32 |
{"umls": ["C0151175"], "wikidata": ["Q7243132"]}
|
A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Autosomal dominant spastic paraplegia type 6
|
c1838192
| 25,938 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100988
| 2021-01-23T17:03:30 |
{"gard": ["4928"], "mesh": ["C536866"], "omim": ["600363"], "umls": ["C1838192"], "icd-10": ["G11.4"], "synonyms": ["SPG6"]}
|
## Description
Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. Although traditionally considered an inflammatory myopathy, it is now considered to be more consistent with a myodegenerative disease (Sugarman et al., 2002; Askanas and Engel, 2006).
Clinical Features
The vast majority of IBM occurs sporadically; however, rare familial occurrence has been reported. Inclusion body myositis is a slowly progressive inflammatory myopathy characterized clinically by weakness of the proximal parts of the limbs, diminished deep tendon reflexes, dysphagia, and mixed myopathic and neurogenic changes on electromyography. Baumbach et al. (1990) reported the first familial cases. Six persons in 2 generations were affected in an autosomal dominant pattern of inheritance. All 5 affected males had significant clinical findings with age of onset at 20 to 30 years. The only affected female was clinically asymptomatic but on muscle biopsy showed mild changes consistent with IBM. Garlepp et al. (1995) found particularly severe involvement of the quadriceps femoris muscles in the lower extremity and of the forearm flexor muscles in the upper limbs.
### Pathologic Findings
Garlepp et al. (1995) defined IBM histologically by the presence of characteristic rimmed vacuoles with immunohistochemical evidence of the beta-amyloid fragment of the beta-amyloid precursor protein (beta-APP; 104760) and ubiquitin (see UBB; 191339).
Askanas et al. (2003) reported a 70-year-old African American man with sporadic IBM and cardiac amyloidosis associated with a mutation in the transthyretin gene (TTR; 176300.0009). Cultured skeletal muscle fibers from the patient showed vacuolar degeneration, congophilic inclusions, and clusters of colocalizing beta-amyloid and TTR immunoreactivities, none of which were found in normal cultured muscle fibers. Overexpression of the APP gene resulted in accelerated fiber degeneration, greater congophilic inclusions, and accumulation of heavy beta-amyloid oligomers. Askanas et al. (2003) suggested that the TTR mutation may have predisposed the patient to IBM by increasing beta-amyloid deposition in skeletal muscle.
Fratta et al. (2004) found that 70 to 80% of the vacuolated muscle fibers in samples from 10 patients with sporadic inclusion body myositis contained strong immunoreactivity to mutant ubiquitin (UBB+1) in the form of numerous well-defined plaque-like, dotted, or elongated aggregates. Similar aggregates were identified in 10 to 15% of the nonvacuolated normal-appearing fibers. In the abnormal fibers, these aggregates were concurrently immunoreactive for wildtype UBB and either beta-amyloid or phosphorylated tau (MAPT; 157140). None of the control biopsies were immunoreactive to UBB+1. Fratta et al. (2004) suggested that the UBB+1-inhibited proteasome cannot properly degrade toxic proteins, resulting in their accumulation and aggregation.
Pathogenesis
In a review of the pathogenesis of sporadic IBM, Askanas and Engel (2006) noted the striking similarities to Alzheimer disease (AD; 104300). Muscle fibers and brain tissue from the 2 disorders, respectively, share abnormal protein accumulation, including beta-amyloid, phosphorylated tau, ubiquitin, ApoE (107741), and presenilin-1 (PSEN1; 104311). The authors discussed the abnormalities of APP processing, the role of abnormal intracellular protein folding, oxidative stress, and the potential role of cholesterol in the pathogenic cascade of IBM.
Clinical Management
IBM has traditionally been considered an inflammatory myopathy that has been resistant to treatment, even with immunosuppressive agents. Barohn et al. (2006) reported that 9 IBM patients treated with a TNF-alpha (TNFA; 191160) inhibitor demonstrated a small but significant improvement in handgrip at 12 months. However, other functional measurements did not show improvement.
Molecular Genetics
Garlepp et al. (1995) found the frequency of the apolipoprotein E4 allele to be 0.29 in a group of 14 patients with IBM. This was considerably higher than that found in their control group of other inflammatory diseases (0.15) and the general population (0.13).
Fifteen- to 18-nm tubulofilament inclusions similar to those found in IBM have been observed in some cases of oculopharyngeal dystrophy (164300), which is caused by short expansions of a GCG trinucleotide repeat in the gene encoding poly(A)-binding protein-2 (PABP2; 602279). However, Mezei et al. (1999) did not observe any expansions in PABP2 in 22 sporadic or 3 familial cases of IBM.
Animal Model
Sugarman et al. (2002) noted that affected muscle fibers in IBM are characterized by many of the pathobiochemical alterations traditionally associated with neurodegenerative brain disorders such as Alzheimer disease (104300). Accumulation of the amyloid-beta peptide, which is derived from proteolysis of the larger beta-APP, seems to be an early pathologic event in both Alzheimer disease and IBM; in the latter, it occurs predominantly intracellularly within affected myofibers. To elucidate the possible role of beta-APP mismetabolism in the pathogenesis of IBM, Sugarman et al. (2002) selectively targeted beta-APP overexpression to skeletal muscle in transgenic mice, using the muscle creatine kinase promoter. They reported that older (more than 10 months) transgenic mice exhibited intracellular immunoreactivity to beta-APP and its proteolytic derivatives in skeletal muscle. In this transgenic model, selective overexpression of beta-APP led to the development of a subset of other histopathologic and clinical features characteristic of IBM, including centric nuclei, inflammation, and deficiencies in motor performance. These results were considered consistent with a pathogenic role for beta-APP mismetabolism in human IBM.
In a transgenic mouse model of IBM with increased expression of beta-amyloid-42 in skeletal muscle, Kitazawa et al. (2008) observed signs of acute and chronic inflammation after administration of lipopolysaccharide (LPS), as well as exacerbation of motor decline compared to untreated mice. LPS activated glycogen synthase kinase 3-beta (GSK3B; 605004) with concomitantly increased levels of phosphorylated tau and beta-amyloid. Treatment with a specific GSK3B inhibitor or lithium reduced muscle phospho-tau levels and partially rescued motor impairment. Samples of human IBM muscle showed colocalization of GSK3B and phospho-tau. Murine C2C12 myoblasts treated with proinflammatory molecules also showed activated GSK3B and increased tau phosphorylation. Kitazawa et al. (2008) suggested a role for inflammation in IBM and identified GSK3B as a key signaling molecule.
INHERITANCE \- Isolated cases ABDOMEN Gastrointestinal \- Dysphagia MUSCLE, SOFT TISSUES \- Muscle weakness, proximal \- Muscle atrophy, especially quadriceps and forearm muscles \- Muscle weakness, distal \- Muscle biopsy shows inflammation with T cells \- Rimmed vacuoles \- Congophilic inclusions \- Muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits MISCELLANEOUS \- Most common muscle disease of older persons \- Variable phenotype \- Slowly progressive ▲ 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
|
INCLUSION BODY MYOSITIS
|
c0238190
| 25,939 |
omim
|
https://www.omim.org/entry/147421
| 2019-09-22T16:39:36 |
{"doid": ["3429"], "mesh": ["D018979"], "omim": ["147421"], "icd-9": ["359.71"], "icd-10": ["G72.41"], "orphanet": ["611"], "synonyms": ["Alternative titles", "IBM"]}
|
Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Epithelioid sarcoma
|
c0205944
| 25,940 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293202
| 2021-01-23T18:41:05 |
{"gard": ["10181"], "mesh": ["D012509"], "umls": ["C0205944"], "icd-10": ["C49.9"]}
|
Naegleriasis
Other namesPrimary amoebic meningoencephalitis (PAM), amebic encephalitis, naegleria infection, amoebic meningitis
Histopathology of primary amebic meningoencephalitis due to Naegleria fowleri. Direct fluorescent antibody stain.
Pronunciation
* /ˌnɛɡlərˈaɪəsɪs/
SpecialtyInfectious disease
SymptomsFever, vomiting, stiff neck, seizures, poor coordination, confusion
CausesDeep nasal inhalation of Naegleria fowleri organisms from contaminated freshwater.
Risk factorsRoughly 75% of cases infect males; most cases are children or adolescents[1]
Differential diagnosisBacterial or fungal meningitis[2]
PreventionNoseclips when swimming in fresh water, or avoiding fresh water environments, and proper chlorination of swimming pools
TreatmentMiltefosine, fluconazole, amphotericin B, voriconazole, targeted temperature management[3][4]
Prognosis98.5% fatality rate; some, but not all, survivors have permanent neurological damage
FrequencyExtremely rare
Naegleriasis (also known as primary amoebic meningoencephalitis; PAM) is an almost invariably fatal infection of the brain by the free-living unicellular eukaryote Naegleria fowleri. Symptoms are meningitis-like and include headache, fever, nausea, vomiting, a stiff neck, confusion, hallucinations and seizures.[5] Symptoms progress rapidly over around five days, and death usually results within one to two weeks of symptoms.[5][6]
N. fowleri is typically found in warm bodies of fresh water, such as ponds, lakes, rivers and hot springs. It is also found in an amoeboid or temporary flagellate stage in soil, poorly maintained municipal water supplies, water heaters, near warm-water discharges of industrial plants and in poorly chlorinated or unchlorinated swimming pools. There is no evidence of it living in salt water. As the disease is rare, it is often not considered during diagnosis.
Although infection occurs very rarely,[6] it almost inevitably results in death.[7][8] Of the 450 or so naegleriasis cases in the past 60 years, only seven have survived,[9] implying a case fatality rate of 98.5%.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathogenesis
* 4 Diagnosis
* 5 Prevention
* 6 Treatment
* 7 Prognosis
* 8 Epidemiology
* 9 History
* 10 Society and culture
* 11 Research
* 12 See also
* 13 References
* 14 External links
## Signs and symptoms[edit]
Onset of symptoms begins one to nine days following exposure (with an average of five).[5] Initial symptoms include changes in taste and smell, headache, fever, nausea, vomiting, back pain,[10] and a stiff neck. Secondary symptoms are also meningitis-like including confusion, hallucinations, lack of attention, ataxia, cramp and seizures. After the start of symptoms, the disease progresses rapidly over three to seven days, with death usually occurring anywhere from seven to fourteen days later,[11] although it can take longer. In 2013, a man in Taiwan died 25 days after being infected by Naegleria fowleri.[12]
It affects healthy children or young adults who have recently been exposed to bodies of fresh water.[2] Some people have presented with a clinical triad of edematous brain lesions, immune suppression and fever.[13] Scientists speculate that lower age groups are at a higher risk of contracting the disease because adolescents have a more underdeveloped and porous cribriform plate, an organ which the amoeba travels through to reach the brain.[4]
## Cause[edit]
Naegleria fowleri's human eye-like structure
N. fowleri invades the central nervous system via the nose, specifically through the olfactory mucosa of the nasal tissues. This usually occurs as the result of the introduction of water that has been contaminated with N. fowleri into the nose during activities such as swimming, bathing or nasal irrigation.[14]
The amoeba follows the olfactory nerve fibers through the cribriform plate of the ethmoid bone into the skull. There, it migrates to the olfactory bulbs and subsequently other regions of the brain, where it feeds on the nerve tissue. The organism then begins to consume cells of the brain, piecemeal, by means of an amoebostome, a unique actin-rich sucking apparatus extended from its cell surface.[15] It then becomes pathogenic, causing primary amoebic meningoencephalitis (PAM or PAME).
Primary amebic meningoencephalitis presents symptoms similar to those of bacterial and viral meningitis. Upon abrupt disease onset, a plethora of problems arise. Endogenous cytokines, which release in response to pathogens, affect the hypothalamus’ thermoregulatory neurons and cause a rise in body temperature.[16] Additionally, cytokines may act on the vascular organ of the lamina terminalis, leading to the synthesis of prostaglandin (PG) E2 which acts on the hypothalamus, resulting in an increase in body temperature.[17] Also, the release of cytokines and exogenous exotoxins coupled with an increase in intracranial pressure stimulate nociceptors in the meninges[16] creating pain sensations.
The release of cytotoxic molecules in the central nervous system results in extensive tissue damage and necrosis, such as damage to the olfactory nerve through lysis of nerve cells and demyelination.[18] Specifically, the olfactory nerve and bulbs become necrotic and hemorrhagic.[19] Spinal flexion leads to nuchal rigidity, or stiff neck, due to the stretching of the inflamed meninges.[16] The increase in intracranial pressure stimulates the area postrema to create nausea sensations which may lead to brain herniation and damage to the reticular formation.[16] Ultimately, the increase in cerebrospinal fluid from inflammation of the meninges increases intracranial pressure and leads to the destruction of the central nervous system. Although the exact pathophysiology behind the seizures caused by PAM is unknown, scientists speculate that the seizures arise from altered meningeal permeability[16] caused by increased intracranial pressure.
## Pathogenesis[edit]
Roman Baths in Bath, Somerset, closed for bathing since 1978 due to presence of N. fowleri
Naegleria fowleri propagates in warm, stagnant bodies of freshwater (typically during the summer months), and enters the central nervous system after insufflation of infected water by attaching itself to the olfactory nerve.[2] It then migrates through the cribriform plate and into the olfactory bulbs of the forebrain,[20] where it multiplies itself greatly by feeding on nerve tissue.
## Diagnosis[edit]
N. fowleri can be grown in several kinds of liquid axenic media or on non-nutrient agar plates coated with bacteria. Escherichia coli can be used to overlay the non-nutrient agar plate and a drop of cerebrospinal fluid sediment is added to it. Plates are then incubated at 37 °C and checked daily for clearing of the agar in thin tracks, which indicate the trophozoites have fed on the bacteria.[21]
Detection in water is performed by centrifuging a water sample with E. coli added, then applying the pellet to a non-nutrient agar plate. After several days, the plate is microscopically inspected and Naegleria cysts are identified by their morphology. Final confirmation of the species' identity can be performed by various molecular or biochemical methods.[22]
Confirmation of Naegleria presence can be done by a so-called flagellation test, where the organism is exposed to a hypotonic environment (distilled water). Naegleria, in contrast to other amoebae, differentiates within two hours into the flagellate state. Pathogenicity can be further confirmed by exposure to high temperature (42 °C): Naegleria fowleri is able to grow at this temperature, but the nonpathogenic Naegleria gruberi is not.[citation needed]
## Prevention[edit]
Michael Beach, a recreational waterborne illness specialist for the Centers for Disease Control and Prevention, stated in remarks to the Associated Press that wearing of nose-clips to prevent insufflation of contaminated water would be effective protection against contracting PAM, noting that "You'd have to have water going way up in your nose to begin with".[23]
Advice stated in the press release from Taiwan's Centers for Disease Control recommended people prevent fresh water from entering the nostrils and avoid putting their heads down into fresh water or stirring mud in the water with feet. When starting to suffer from fever, headache, nausea, or vomiting subsequent to any kind of exposure to fresh water, even in the belief that no fresh water has traveled through the nostrils, people with such conditions should be carried to hospital quickly and make sure doctors are well-informed about the history of exposure to fresh water.[24]
## Treatment[edit]
On the basis of the laboratory evidence and case reports, heroic doses[25] of amphotericin B have been the traditional mainstay of PAM treatment since the first reported survivor in the United States in 1982.[4]
Treatment has often also used combination therapy with multiple other antimicrobials in addition to amphotericin, such as fluconazole, miconazole, rifampicin and azithromycin. They have shown limited success only when administered early in the course of an infection.[26] Fluconazole is commonly used as it has been shown to have synergistic effects against naegleria when used with amphotericin in-vitro.[4]
While the use of rifampicin has been common, including in all four North American cases of survival, its continued use has been questioned.[4] It only has variable activity in-vitro and it has strong effects on the therapeutic levels of other antimicrobials used by inducing cytochrome p450 pathways.[4]
In 2013, two successfully treated cases in the United States utilized the medication miltefosine.[3] As of 2015, there was no data on how well miltefosine is able to reach the central nervous system.[4] As of 2015 the U.S. CDC offered miltefosine to doctors for the treatment of free-living ameobas including naegleria.[3] In one of the cases, a 12-year-old female, was given miltefosine and targeted temperature management to manage cerebral edema that is secondary to the infection. She survived with no neurological damage. The targeted temperature management commingled with early diagnosis and the miltefosine medication has been attributed with her survival. On the other hand, the other survivor, an 8-year-old male, was diagnosed several days after symptoms appeared and was not treated with targeted temperature management; however, he was administered the miltefosine. He suffered what is likely permanent neurological damage.[3]
In 2016, a 16-year-old boy also survived PAM. He was treated with the same protocols of the 12-year-old girl in 2013. He recovered making a near complete neurological recovery; however, he has stated that learning has been more difficult for him since contracting the disease.[3][27]
In 2018, a 10-year-old girl in the Spanish city of Toledo became the first person to have PAM in Spain, and was successfully treated using intravenous and intrathecal amphotericin B.[28]
## Prognosis[edit]
This section needs to be updated. Please update this article to reflect recent events or newly available information. (November 2019)
Since its first description in the 1960s, only seven people worldwide had been reported to have survived PAM by 2015, out of 450 cases diagnosed, implying a fatality rate of about 98.5%.[2] The survivors include four in the United States, one in Mexico and one in Spain. One of the US survivors had brain damage that is probably permanent, but there are two documented surviving cases in the United States who made a full recovery with no neurological damage; they were both treated with the same protocols.[3][4]
## Epidemiology[edit]
The disease is rare and highly lethal: there had only been 300 cases as of 2008.[29] Drug treatment research at Aga Khan University in Pakistan has shown that in-vitro drug susceptibility tests with some FDA approved drugs used for non-infectious diseases (digoxin and procyclidine were shown to be most effective of the drugs studied) have proved to kill Naegleria fowleri with an amoebicidal rate greater than 95%.[30] The same source has also proposed a device for drug delivery via the transcranial route to the brain.[31]
In the US, the most common states with cases reported of PAM from N. fowleri are the southern states, with Texas and Florida having the highest prevalence. The most commonly affected age group is 5–14 year olds (those who play in water).[32] The number of cases of infection could increase due to climate change, and was posited as the reason for three cases in Minnesota in 2010, 2012, and 2015.[33][34]
As of 2013, the numbers of reported cases were expected to increase simply because of better-informed diagnoses being made both in ongoing cases and in autopsy findings.[35]
## History[edit]
This form of nervous system infection by amoeba was first documented in Australia in 1965.[36][37] In 1966, four cases were reported in the US. By 1968 the causative organism, previously thought to be a species of Acanthamoeba or Hartmannella, was identified as Naegleria. This same year, occurrence of sixteen cases over a period of three years (1962–1965) was reported in Ústí nad Labem, Czechoslovakia.[38] In 1970, the species of amoeba was named N. fowleri.[39]
Australian physicians Fowler and Carter first described human disease caused by amebo-flagellates in Adelaide in 1965.[40][41] Their work on amebo-flagellates has provided an example of how a protozoan can effectively live both freely in the environment, and in a human host. Since 1965, more than 144 cases have been confirmed in different countries. In 1966, Fowler termed the infection resulting from N. fowleri primary amoebic meningoencephalitis (PAM) to distinguish this central nervous system (CNS) invasion from other secondary invasions made by other amoebae such as Entamoeba histolytica.[40] A retrospective study determined the first documented case of PAM possibly occurred in Britain in 1909.[42]
The species Naegleria fowleri was named for Mathieu Naegler (1867–1934), a French parasitologist and zoologist who discovered it for the first time in 1899, and Malcolm Fowler (1924–1974), the Australian doctor who described the distinct disease process of the pathogen in Australia in 1965.[citation needed]
## Society and culture[edit]
Naegleria fowleri is also known as the "brain-eating amoeba". The term has also been applied to Balamuthia mandrillaris, causing some confusion between the two; Balamuthia mandrillaris is unrelated to Naegleria fowleri, and causes a different disease called granulomatous amoebic encephalitis. Unlike naegleriasis, which is usually seen in people with normal immune function, granulomatous amoebic encephalitis is usually seen in people with poor immune function, such as those with HIV/AIDS or leukemia.[43]
Naegleriasis was the topic of Episodes 20–21, Season 2 in the medical mystery drama House, M.D.[44][45]
## Research[edit]
The U.S. National Institutes of Health budgeted $800,000 for research on the disease in 2016.[46] Phenothiazines have been tested in vitro and in animal models of PAM.[47] Improving case detection through increased awareness, reporting, and information about cases might enable earlier detection of infections, provide insight into the human or environmental determinants of infection, and allow improved assessment of treatment effectiveness.[2]
## See also[edit]
* Balamuthia mandrillaris – unrelated pathogenic organism that shares the same common name as N. fowleri
## References[edit]
1. ^ Fortin, Jacey (25 July 2019). "Man Dies of 'Brain-Eating' Amoeba After Swimming in Lake". The New York Times. Retrieved 1 April 2020.
2. ^ a b c d e Centers for Disease Control and Prevention (CDC) (2008). "Primary amebic meningoencephalitis – Arizona, Florida, and Texas, 2007". MMWR. Morbidity and Mortality Weekly Report. 57 (21): 573–7. PMID 18509301.
3. ^ a b c d e f "Naegleria fowleri — Primary Amebic Meningoencephalitis (PAM) — Amebic Encephalitis". 23 April 2015. Retrieved 17 January 2016.
4. ^ a b c d e f g h Grace, Eddie; Asbill, Scott; Virga, Kris (1 November 2015). "Naegleria fowleri: Pathogenesis, Diagnosis, and Treatment Options". Antimicrobial Agents and Chemotherapy. 59 (11): 6677–6681. doi:10.1128/AAC.01293-15. ISSN 0066-4804. PMC 4604384. PMID 26259797.
5. ^ a b c "Illness & Symptoms | Naegleria fowleri | CDC". www.cdc.gov. 4 April 2019.
6. ^ a b "The Centers for Disease Control and Prevention, Division of Parasitic Diseases – Naegleria fowleri—Primary Amoebic Meningoencephalitis (PAM)—General Information". Retrieved 26 May 2014.
7. ^ "6 die from brain-eating amoeba after swimming". NBC News. Associated Press. 28 September 2007.
8. ^ one death in September 2018 was the first confirmed case of the infection in the United States since 2016 (nytimes.com: A Man Died After Being Infected With a Brain-Eating Amoeba. Here Are the Facts)
9. ^ Elizabeth Cohen, Senior Medical Correspondent. "Brain-eating amoeba survivor to begin school". CNN. Retrieved 10 September 2019.
10. ^ Talaro, Kathleen (2015). Foundations in microbiology. New York, NY: McGraw-Hill Education. p. 695. ISBN 978-0-07-352260-9.
11. ^ "CDC—01 This Page Has Moved: CDC Parasites Naegleria". Retrieved 27 July 2015.
12. ^ Su MY, Lee MS, et al. (April 2013). "A fatal case of Naegleria fowleri meningoencephalitis in Taiwan". Korean J Parasitol. 51 (2): 203–6. doi:10.3347/kjp.2013.51.2.203. PMC 3662064. PMID 23710088.
13. ^ Mayer, Peter (2011). "Amebic encephalitis". Surgical Neurology International. 50 (2): 50. doi:10.4103/2152-7806.80115. PMC 3114370. PMID 21697972.
14. ^ "Safe Ritual Nasal Rinsing" (PDF). Centers for Disease Control and Prevention. Retrieved 28 September 2020.
15. ^ Marciano-Cabral, F; John, DT (1983). "Cytopathogenicity of Naegleria fowleri for rat neuroblastoma cell cultures: scanning electron microscopy study". Infection and Immunity. 40 (3): 1214–7. doi:10.1128/IAI.40.3.1214-1217.1983. PMC 348179. PMID 6852919.
16. ^ a b c d e Montgomery, Katherine. "Meningitis". McMaster Pathophysiology Review. Retrieved 29 March 2020.
17. ^ Walter, Edward James; Hanna-Jumma, Sameer; Carraretto, Mike; Forni, Lui (14 July 2016). "The pathophysiological basis and consequences of fever". Critical Care. 20 (1): 200. doi:10.1186/s13054-016-1375-5. ISSN 1364-8535. PMC 4944485. PMID 27411542.
18. ^ Pugh, J. Jeffrey; Levy, Rebecca A. (21 September 2016). "Naegleria fowleri: Diagnosis, Pathophysiology of Brain Inflammation, and Antimicrobial Treatments". ACS Chemical Neuroscience. 7 (9): 1178–1179. doi:10.1021/acschemneuro.6b00232. PMID 27525348..
19. ^ Fero, Kelly. "Naegleria fowleri". web.stanford.edu. Retrieved 29 March 2020.
20. ^ Cervantes-Sandoval I, Serrano-Luna Jde J, García-Latorre E, Tsutsumi V, Shibayama M (September 2008). "Characterization of brain inflammation during primary amoebic meningoencephalitis". Parasitol. Int. 57 (3): 307–13. doi:10.1016/j.parint.2008.01.006. PMID 18374627.
21. ^ Donald C. Lehman; Mahon, Connie; Manuselis, George (2006). Textbook of Diagnostic Microbiology (3rd ed.). Philadelphia: Saunders. ISBN 978-1-4160-2581-8.[page needed]
22. ^ Pougnard, C.; Catala, P.; Drocourt, J.-L.; Legastelois, S.; Pernin, P.; Pringuez, E.; Lebaron, P. (2002). "Rapid Detection and Enumeration of Naegleria fowleri in Surface Waters by Solid-Phase Cytometry". Applied and Environmental Microbiology. 68 (6): 3102–7. doi:10.1128/AEM.68.6.3102-3107.2002. PMC 123984. PMID 12039772.
23. ^ "6 die from brain-eating amoeba in lakes", Chris Kahn/Associated Press, 9/28/07
24. ^ "福氏內格里阿米巴腦膜腦炎感染病例罕見，但致死率高，籲請泡溫泉及從事水上活動之民眾小心防範". 衛生福利部疾病管制署 (in Chinese). 26 October 2013. Retrieved 14 October 2017. This article incorporates text from this source, which is in the public domain.
25. ^ The American Heritage Stedman's Medical Dictionary. Houghton Mifflin Company. 2004.
26. ^ Bauman, Robert W. (2009). "Microbial Diseases of the Nervous System and Eyes". Microbiology, With Diseases by Body System (2nd ed.). San Francisco: Pearson Education. p. 617.
27. ^ Diaz, Johnny. "Teen who survived brain-eating amoeba says sickness gave him more positive outlook". sun-sentinel.com. Retrieved 15 April 2020.
28. ^ Güell, Oriol (12 October 2018). "Una niña de Toledo sobrevive al primer caso en España de la ameba comecerebros". El País. Retrieved 11 November 2018.
29. ^ Caruzo G, Cardozo J (October 2008). "Primary amoebic meningoencephalitis: a new case from Venezuela". Trop Doct. 38 (4): 256–7. doi:10.1258/td.2008.070426. PMID 18820207. S2CID 20958778.[permanent dead link]
30. ^ Mannan Baig Abdul; Kulsoom Huma; Ahmed Khan Naveed (2014). "Primary amoebic meningoencephalitis: amoebicidal effects of clinically approved drugs against Naegleria fowleri". Journal of Medical Microbiology. 63 (Pt 5): 760–762. doi:10.1099/jmm.0.072306-0. PMID 24493160. S2CID 206195489.
31. ^ Baig Abdul M., Khan Naveed A. (2014). "Novel Chemotherapeutic Strategies in the Management of Primary Amoebic Meningoencephalitis Due to Naegleria fowleri". CNS Neuroscience & Therapeutics. 20 (3): 289–290. doi:10.1111/cns.12225. PMC 6493040. PMID 24456292.
32. ^ “Number of Case-Reports of Primary Amebic Meningoencephalitis Caused by Naegleria Fowleri (N=133) by State of Exposure*— United States, 1962–2014.” CDC.gov, CDC, www.cdc.gov/parasites/naegleria/pdf/naegleria-state-map-2014.pdf.
33. ^ Kemble SK, Lynfield R, et al. (March 2012). "Fatal Naegleria fowleri infection acquired in Minnesota: possible expanded range of a deadly thermophilic organism". Clin Infect Dis. 54 (6): 805–9. doi:10.1093/cid/cir961. PMID 22238170.
34. ^ Lorna Benson (9 July 2015). "Has deadly water amoeba found a home in Minnesota?". Retrieved 5 September 2016.
35. ^ Kanwal Farooqi M, Ali S, Ahmed SS (May 2013). "The paradox of primary amoebic meningoencephalitis—a rare disease, but commonly misdiagnosed". J Pak Med Assoc. 63 (5): 667. PMID 23758009.
36. ^ Fowler, M.; Carter, R. F. (September 1965). "Acute pyogenic meningitis probably due to Acanthamoeba sp.: a preliminary report". British Medical Journal. 2 (5464): 740–2. doi:10.1136/bmj.2.5464.734-a. PMC 1846173. PMID 5825411.
37. ^ Symmers, W. S. C. (November 1969). "Primary amoebic meningoencephalitis in Britain". British Medical Journal. 4 (5681): 449–54. doi:10.1136/bmj.4.5681.449. PMC 1630535. PMID 5354833.
38. ^ Červa, L.; Novák, K. (April 1968). "Ameobic meningoencephalitis: sixteen fatalities". Science. 160 (3823): 92. Bibcode:1968Sci...160...92C. doi:10.1126/science.160.3823.92. PMID 5642317. S2CID 84686553.
39. ^ Gutierrez, Yezid (15 January 2000). "Chapter 6: Free Living Amebae". Diagnostic Pathology of Parasitic Infections with Clinical Correlations (2 ed.). USA: Oxford University Press. pp. 114–115. ISBN 978-0-19-512143-8.
40. ^ a b Butt, Cecil G. (1966). "Primary Amebic Meningoencephalitis". New England Journal of Medicine. 274 (26): 1473–6. doi:10.1056/NEJM196606302742605. PMID 5939846.
41. ^ Fowler, M; Carter, RF (1965). "Acute pyogenic meningitis probably due to Acanthamoeba sp.: a preliminary report". British Medical Journal. 2 (5464): 740–2. doi:10.1136/bmj.2.5464.734-a. PMC 1846173. PMID 5825411.
42. ^ Symmers, WC (1969). "Primary amoebic meningoencephalitis in Britain". British Medical Journal. 4 (5681): 449–54. doi:10.1136/bmj.4.5681.449. PMC 1630535. PMID 5354833.
43. ^ Shadrach, WS; Rydzewski, K; Laube, U; Holland, G; Ozel, M; Kiderlen, AF; Flieger, A (May 2005). "Balamuthia mandrillaris, free-living ameba and opportunistic agent of encephalitis, is a potential host for Legionella pneumophila bacteria". Applied and Environmental Microbiology. 71 (5): 2244–9. doi:10.1128/AEM.71.5.2244-2249.2005. PMC 1087515. PMID 15870307.
44. ^ "IMDB, Euphoria: Part 1". Retrieved 14 June 2014.
45. ^ "IMDB, Euphoria: Part 2". Retrieved 14 June 2014.
46. ^ Wessel, Lindzi (22 July 2016). "Scientists hunt for drug to kill deadly brain-eating amoeba". STAT News.
47. ^ Kim, J.-H.; Jung, S.-Y.; Lee, Y.-J.; Song, K.-J.; Kwon, D.; Kim, K.; Park, S.; Im, K.-I.; Shin, H.-J. (2008). "Effect of Therapeutic Chemical Agents In Vitro and on Experimental Meningoencephalitis Due to Naegleria fowleri". Antimicrobial Agents and Chemotherapy. 52 (11): 4010–6. doi:10.1128/AAC.00197-08. PMC 2573150. PMID 18765686.
## External links[edit]
* Naegleria Infection Information Page from the Centers for Disease Control and Prevention
* Naegleria General Information from the website of the Centers for Disease Control and Prevention
Classification
D
* ICD-10: A06.6, B60.2
* ICD-9-CM: 136.2
* MeSH: C535275
* v
* t
* e
Parasitic disease caused by Excavata protozoa
Discicristata
Trypanosomatida
Trypanosomiasis
* T. brucei
* African trypanosomiasis
* T. cruzi
* Chagas disease
Leishmaniasis
* Leishmania major / L. mexicana / L. aethiopica / L. tropica
* Cutaneous leishmaniasis
* L. braziliensis
* Mucocutaneous leishmaniasis
* L. donovani / infantum
* Visceral leishmaniasis
Schizopyrenida
* Naegleria fowleri
* Primary amoebic meningoencephalitis
Trichozoa
Diplomonadida
* Giardia lamblia (Giardiasis)
Trichomonadida
* Trichomonas vaginalis
* Trichomoniasis
* Dientamoeba fragilis
* Dientamoebiasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Naegleriasis
|
c0276822
| 25,941 |
wikipedia
|
https://en.wikipedia.org/wiki/Naegleriasis
| 2021-01-18T18:52:01 |
{"gard": ["9554"], "mesh": ["C535275"], "icd-9": ["136.2"], "icd-10": ["B60.2"], "wikidata": ["Q922927"]}
|
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Spermatocele
Ultrasound of a testicle (grey) and a spermatocele (black).
Pronunciation
* /spɜːrˈmætəsiːl/[1][2]
SpecialtyUrology
Spermatocele is a fluid-filled cyst that develops at the head of the epididymis. The fluid is usually a clear or milky white color that may contain sperm.[3] It can vary in size from several millimeters to many centimeters. Small spermatoceles are relatively common, occurring in an estimated 30 percent of all men.[4] They are generally not painful. However, some people may experience discomfort such as a dull pain in the scrotum from larger spermatoceles.[5] They are not cancerous, nor do they cause an increased risk of testicular cancer. Additionally, unlike varicoceles, they do not reduce fertility.[5]
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Causes[edit]
Spermatoceles can originate as diverticulum from the tubules found in the head of the epididymis. Sperm accumulation gradually causes the diverticulum to increase in size, causing a spermatocele. In many instances they appear to occur spontaneously without any preceding instances of injury.[4]
Scarring of any part of the epididymis can cause it to become obstructed and in turn form a spermatocele.[3]
## Diagnosis[edit]
Micrograph of a spermatocele. The characteristic sperm are present (black dots - left of image). H&E stain.
Dilated rete testis containing spermatozoa within cyst lumen. H&E stain 20x
Spermatoceles can be discovered as incidental scrotal masses found on physical examination by a physician or by self-inspection of the scrotum and testicles.[5]
Finding a painless, cystic mass at the head of the epididymis that is clearly separate from the testicle can indicate a spermatocele. Shining a light through the mass through a process known as transillumination can also help differentiate between a fluid-filled cyst and a tumor, which would not allow as much light to pass.[6] If uncertainty exists, ultrasonography of the scrotum can confirm the presence of a spermatocele.[5]
## Treatment[edit]
Small cysts as well as asymptomatic larger cysts are better left alone and carefully observed. However, treatment can be considered if the cysts are causing discomfort/pain, enlarging in size, or per patient request. There are a few different treatment options, ranging in levels of invasiveness.[5]
Certain drugs can be taken by mouth to decrease spermatocele-related symptoms such as pain and/or swelling. Aspiration and sclerotherapy are treatments that remove fluid from the spermatocele and seal the spermatocele sac closed from further fluid build-up, respectively.[5] Due to a higher risk of epididymis damage, fertility problems, and further recurrences, these procedures are not recommended and not commonly used.
The last option is to surgically remove the spermatocele entirely with a spermatocelectomy.[5] This standard procedure can be performed in an outpatient setting with the use of local or general anesthesia. Depending on the spermatocele, parts of the epididymis may also be removed. After surgical removal, it is possible that the pain will persist. There is also still a risk for recurrence and fertility problems.[6]
## See also[edit]
* hydrocele
* orchitis
* rete tubular ectasia
* testicular torsion
* tumor
* varicocele
## References[edit]
1. ^ Entry "spermatocele" in Merriam-Webster Online Dictionary.
2. ^ OED 2nd edition, 1989.
3. ^ a b "Spermatocele - Symptoms and causes". Mayo Clinic. Retrieved 2020-07-28.
4. ^ a b "Spermatocele: Symptoms, Causes, Treatments". Cleveland Clinic. Retrieved 2020-07-28.
5. ^ a b c d e f g "Spermatoceles: Symptoms, Diagnosis & Treatment - Urology Care Foundation". www.urologyhealth.org. Retrieved 2020-07-28.
6. ^ a b "Spermatocele - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2020-07-28.
## External links[edit]
Classification
D
* ICD-10: N43.4
* ICD-9-CM: 608.1
* MeSH: D013088
* DiseasesDB: 31243
* SNOMED CT: 49263001
* v
* t
* e
Male diseases of the pelvis and genitals
Internal
Testicular
* Orchitis
* Hydrocele testis
* Testicular cancer
* Testicular torsion
* Male infertility
* Aspermia
* Asthenozoospermia
* Azoospermia
* Hyperspermia
* Hypospermia
* Oligospermia
* Necrospermia
* Teratospermia
Epididymis
* Epididymitis
* Spermatocele
* Hematocele
Prostate
* Prostatitis
* Acute prostatitis
* Chronic bacterial prostatitis
* Chronic prostatitis/chronic pelvic pain syndrome
* Asymptomatic inflammatory prostatitis
* Benign prostatic hyperplasia
* Prostate cancer
Seminal vesicle
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External
Penis
* Balanoposthitis / Balanitis
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* Peyronie's disease
* Penile cancer
* Penile fracture
* Balanitis xerotica obliterans
Other
* Hematospermia
* Retrograde ejaculation
* Postorgasmic illness 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
|
Spermatocele
|
c0037859
| 25,942 |
wikipedia
|
https://en.wikipedia.org/wiki/Spermatocele
| 2021-01-18T18:48:43 |
{"mesh": ["D013088"], "umls": ["C0037859"], "wikidata": ["Q385532"]}
|
Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.
A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes.
Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence.
## Frequency
Knobloch syndrome is a rare condition. However, the exact prevalence of the condition is unknown.
## Causes
Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. Collagen XVIII is found in the basement membranes of several parts of the eye, including the vitreous and retina, among other tissues. Little is known about the function of this protein, but it appears to be involved in normal development of the eye.
Several mutations in the COL18A1 gene have been identified in people with Knobloch syndrome. Most COL18A1 gene mutations lead to an abnormally short version of the genetic blueprint used to make the collagen XVIII protein. Although the process is unclear, the COL18A1 gene mutations result in the loss of collagen XVIII protein, which likely causes the signs and symptoms of Knobloch syndrome.
When the condition is caused by COL18A1 gene mutations, it is sometimes referred to as Knobloch syndrome type I. Research indicates that mutations in at least two other genes that have not been identified may cause Knobloch syndrome types II and III. Although they are caused by alterations in different genes, the three types of the condition have similar signs and symptoms.
### Learn more about the gene associated with Knobloch syndrome
* COL18A1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Knobloch syndrome
|
c4551775
| 25,943 |
medlineplus
|
https://medlineplus.gov/genetics/condition/knobloch-syndrome/
| 2021-01-27T08:25:06 |
{"gard": ["380"], "mesh": ["C537209"], "omim": ["267750"], "synonyms": []}
|
Type of valvular heart disease
Tricuspid insufficiency
Other namesTricuspid regurgitation
Echocardiogram showing typical findings in severe tricuspid regurgitation
SpecialtyCardiology
SymptomsAscites[1]
CausesAbnormally high blood pressure , other heart problem[2]
Diagnostic methodEchocardiogram[2]
TreatmentDiuretic, Surgery[2]
Tricuspid insufficiency (TI), more commonly called tricuspid regurgitation (TR), is a type of valvular heart disease in which the tricuspid valve of the heart, located between the right atrium and right ventricle, does not close completely when the right ventricle contracts (systole). TR allows the blood to flow backwards from the right ventricle to the right atrium, which increases the volume and pressure of the blood both in the right atrium and the right ventricle,[2] which may increase central venous volume and pressure if the backward flow is sufficiently severe.
The causes of TR are divided into hereditary and acquired; and also primary and secondary. Primary TR refers to a defect solely in the tricuspid valve, such as infective endocarditis; secondary TR refers to a defect in the valve as a consequence of some other pathology, such as left ventricular failure or pulmonary hypertension.
The mechanism of TR is either a dilatation of the base (annulus) of the valve due to right ventricular dilatation, which results in the three leaflets being too far apart to reach one another; or an abnormality of one or more of the three leaflets.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 5 Management
* 5.1 Medical
* 5.2 Surgical
* 6 Prognosis
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
The symptoms of TR depend on its severity. Severe TR causes right-sided heart failure, with the development of ascites and peripheral edema.[1]
A pansystolic heart murmur may be heard on auscultation of the chest. The murmur is usually of low frequency and best heard on the lower left sternal border. It increases with inspiration, and decreases with expiration: this is known as Carvallo's sign. However, the murmur may be inaudible due to the relatively low pressures in the right side of the heart. A third heart sound may also be present, also heard at the lower sternal border, and increasing in intensity with inspiration.[3][4]
On examination of the neck, there may be giant C-V waves in the jugular pulse.[5] With severe TR, there may be an enlarged liver detected on palpation of the right upper quadrant of the abdomen; the liver may be pulsatile on palpation and even on inspection.[citation needed]
## Causes[edit]
The causes of TR may be classified as congenital[6] or acquired; another classification divides the causes into primary or secondary. Congenital abnormalities are much less common than acquired. The most common acquired TR is due to right ventricular dilatation. Such dilatation is most often due left heart failure or pulmonary hypertension. Other causes of right ventricular dilatation include right ventricular infarction, inferior myocardial infarction, and cor pulmonale.[medical citation needed]
In regards to primary and secondary causes they are:[7]
* Primary causes
* Rheumatic
* Myxomatous
* Ebstein anomaly
* Endomyocardial fibrosis
* Endocarditis
* Traumatic (blunt chest injury)
* Secondary causes
* Left ventricular systolic dysfunction
* Mitral valve stenosis or regurgitation
* Chronic lung disease
* Pulmonary thromboembolism
* Myocardial disease
* Right ventricular ischemia and infraction
* Left to right shunt
* Carcinoid heart disease
## Mechanism[edit]
In terms of the mechanism of tricuspid insufficiency it involves the expansion of the tricuspid annulus (fibrous rings of heart). Tricuspid insufficiency is linked to geometric changes of the tricuspid annulus (decreased tricuspid annular release). The leaflets shape are normal but prevented from normal working mechanism due to a distortion of spatial relationships of leaflets and chords.[8] It is also contemplated that the process via which tricuspid regurgitation emerges, is a decrease of contraction of the myocardium around the annulus,[9]
## Diagnosis[edit]
The diagnosis of TR may be suspected if the typical murmur of TR is heard. Severe TR may be suspected if right ventricular enlargement is seen on chest x-ray, and other causes of this enlargement are ruled out.
Definitive diagnosis is made by echocardiogram, which is capable of measuring both the presence and the severity of the TR, as well as right ventricular dimensions and systolic pressures.[10]
## Management[edit]
### Medical[edit]
Generally, medical rather than surgical treatment of TR is recommended if the cause is right ventricular dilatation or left-sided heart failure.[11]
### Surgical[edit]
Tricuspid valve replacement using either a mechanical prosthesis or a bioprosthesis may be indicated. (Mechanical prostheses may cause thrombo‐embolic phenomena, bioprostheses may have a degeneration problem).[9] Some evidence suggests that there are no significant differences between a mechanical or biological tricuspid valve in a recipient.[12]
Surgery vs. no surgery for TR has been statistically assessed by looking back on consecutive series of hospital cases, mainly of secondary causes. In these cases, one finds that surgery predicts outliving non-surgery cases initially matched in health ~60% of the time (HR = .74).[13]
## Prognosis[edit]
The prognosis of TR is less favorable for males than females. Survival rates are proportional to TR severity;[14] but even mild TR reduces survival compared to those with no TR. If the TR is due to left heart failure or pulmonary hypertension, prognosis is usually dictated by these conditions, not the TR.[medical citation needed]
## See also[edit]
* Heart valves
## References[edit]
1. ^ a b c Tricuspid Regurgitation~clinical at eMedicine
2. ^ a b c d MedlinePlus Encyclopedia: Tricuspid regurgitation
3. ^ "Tricuspid Valve Disease & Tricuspid regurgitation (TR) | Patient". Patient. Retrieved 2015-12-14.
4. ^ Berg, Dale; Worzala, Katherine (2006-01-01). Atlas of Adult Physical Diagnosis. Lippincott Williams & Wilkins. p. 90. ISBN 9780781741903.
5. ^ Rehman, Habib Ur (2013). "Giant C-V Waves of Tricuspid Regurgitation". New England Journal of Medicine. 369 (20): e27. doi:10.1056/NEJMicm1103312. PMID 24224640.
6. ^ Said, Sameh M; Dearani, Joseph A; Burkhart, Harold M; Connolly, Heidi M; Eidem, Ben; Stensrud, Paul E; Schaff, Hartzell V (2014). "Management of tricuspid regurgitation in congenital heart disease: Is survival better with valve repair?". The Journal of Thoracic and Cardiovascular Surgery. 147 (1): 412–419. doi:10.1016/j.jtcvs.2013.08.034. PMID 24084288.
7. ^ Rogers, J. H; Bolling, S. F (2009). "The Tricuspid Valve: Current Perspective and Evolving Management of Tricuspid Regurgitation". Circulation. 119 (20): 2718–2725. doi:10.1161/CIRCULATIONAHA.108.842773. PMID 19470900.
8. ^ Hung, Judy (2010). "The Pathogenesis of Functional Tricuspid Regurgitation". Seminars in Thoracic and Cardiovascular Surgery. 22 (1): 76–78. doi:10.1053/j.semtcvs.2010.05.004. PMID 20813321.
9. ^ a b Antunes, M. J; Barlow, J. B (2005). "Management of tricuspid valve regurgitation". Heart. 93 (2): 271–276. doi:10.1136/hrt.2006.095281. PMC 1861404. PMID 17228081.
10. ^ Shah PM, Raney AA; Tricuspid valve disease. Curr Probl Cardiol. 2008 Feb33(2):47-84
11. ^ Tricuspid Regurgitation~treatment at eMedicine
12. ^ "BestBets: Should the tricuspid valve be replaced with a mechanical or biological valve?". www.bestbets.org. Retrieved 2015-12-14.
13. ^ Kelly, Brian J.; Ho Luxford, Jamahal Maeng; Butler, Carolyn Goldberg; Huang, Chuan-Chin; Wilusz, Kerry; Ejiofor, Julius I.; Rawn, James D.; Fox, John A.; Shernan, Stanton K.; Muehlschlegel, Jochen Daniel (2018). "Severity of tricuspid regurgitation is associated with long-term mortality". The Journal of Thoracic and Cardiovascular Surgery. 155 (3): 1032–1038.e2. doi:10.1016/j.jtcvs.2017.09.141. ISSN 1097-685X. PMC 5819734. PMID 29246545. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
14. ^ Nath, Jayant; Foster, Elyse; Heidenreich, Paul A (2004). "Impact of tricuspid regurgitation on long-term survival". Journal of the American College of Cardiology. 43 (3): 405–409. doi:10.1016/j.jacc.2003.09.036. PMID 15013122.
## Further reading[edit]
* Haddad, F; Doyle, R; Murphy, D. J; Hunt, S. A (2008). "Right Ventricular Function in Cardiovascular Disease, Part II: Pathophysiology, Clinical Importance, and Management of Right Ventricular Failure". Circulation. 117 (13): 1717–1731. doi:10.1161/CIRCULATIONAHA.107.653584. PMID 18378625.
* Desai, Ravi R; Vargas Abello, Lina Maria; Klein, Allan L; Marwick, Thomas H; Krasuski, Richard A; Ye, Ying; Nowicki, Edward R; Rajeswaran, Jeevanantham; Blackstone, Eugene H; Pettersson, Gösta B (2013). "Tricuspid regurgitation and right ventricular function after mitral valve surgery with or without concomitant tricuspid valve procedure". The Journal of Thoracic and Cardiovascular Surgery. 146 (5): 1126–1132.e10. doi:10.1016/j.jtcvs.2012.08.061. PMC 4215162. PMID 23010580.
* Badano, Luigi P; Muraru, Denisa; Enriquez-Sarano, Maurice (2013). "Assessment of functional tricuspid regurgitation". European Heart Journal. 34 (25): 1875–1885. doi:10.1093/eurheartj/ehs474. PMID 23303656.
* al.], Hugh D. Allen ... [et; Shaddy, Robert E.; Feltes, Timothy F. (2013). Moss and Adams heart disease in infants, children, and adolescents : including the fetus and young adult (8th ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 9781451118933.
## External links[edit]
Classification
D
* ICD-10: I07.1, I36.1, Q22.8
* ICD-9-CM: 397.0
* MeSH: D014262
External resources
* MedlinePlus: 000169
* eMedicine: med/2314
Scholia has a topic profile for Tricuspid insufficiency.
* 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
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Myocardium
* Myocarditis
* Chagas disease
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* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
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* 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
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* 1°
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* Bifascicular
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Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
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* 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
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* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
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Long QT syndrome
* Andersen–Tawil
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* 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
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* Cardiac asthma
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* v
* t
* e
Medicine
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and
subspecialties
Surgery
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*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
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*[ASPD]: Antisocial Personality Disorder
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*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Tricuspid insufficiency
|
c0040961
| 25,944 |
wikipedia
|
https://en.wikipedia.org/wiki/Tricuspid_insufficiency
| 2021-01-18T19:01:26 |
{"mesh": ["D014262"], "umls": ["C0040961"], "icd-9": ["397.0"], "icd-10": ["I36.1", "I07.1"], "wikidata": ["Q1780241"]}
|
Verticillium wilt
Scientific classification
Kingdom:
Fungi
Division:
Ascomycota
Subdivision:
Pezizomycotina
Class:
Sordariomycetes
Order:
Hypocreales
Family:
Incertae sedis
Genus:
Verticillium
Species
Species include:
* Verticillium albo-atrum
* Verticillium dahliae
* Verticillium longisporum
* Verticillium nubilum
* Verticillium tricorpus
Healthy strawberry plant (left) and strawberry plant infected with verticillium wilt (right), photo by Howard F. Schwartz, Colorado State University, Bugwood.org
Verticillium wilt is a wilt disease affecting over 350 species of eudicot plants. It is caused by six species of Verticillium fungi: V. dahliae, V. albo-atrum, V. longisporum, V. nubilum, V. theobromae and V. tricorpus. (See, for example, Barbara, D.J. & Clewes, E. (2003). "Plant pathogenic Verticillium species: how many of them are there?" Molecular Plant Pathology 4(4).297-305. Blackwell Publishing.) Many economically important plants are susceptible including cotton, tomatoes, potatoes, oilseed rape, eggplants, peppers and ornamentals, as well as others in natural vegetation communities. Many eudicot species and cultivars are resistant to the disease and all monocots, gymnosperms and ferns are immune.
Signs are superficially similar to Fusarium wilts. There are no fungicides characterized for the control of this disease but soil fumigation with chloropicrin has been proven successful in dramatically reducing Verticillium wilt in diverse crops such as vegetables using plasticulture production methods, and in potato production in North America (non-tarped). Additional strategies to manage the disease include crop rotation, the use of resistant varieties and deep plowing (to accelerate the decomposition of infected plant residue). In recent years, pre-plant soil fumigation with chloropicrin in non-tarped, raised beds has proven to be economically viable and beneficial for reducing wilt disease and increasing yield and quality of potato in North America. Soil fumigation is a specialized practice requiring special permits, equipment, and expertise, so qualified personnel must be employed.
## Contents
* 1 Hosts and symptoms
* 2 Disease cycle
* 3 Environment
* 4 Management
* 5 Importance
* 6 Lists of plants susceptible or resistant
* 6.1 Susceptible plants
* 6.2 Plants resistant or immune
* 6.2.1 Families
* 6.2.2 Species
* 7 References
## Hosts and symptoms[edit]
Verticillium dahliae infected sunflowers, photo by Howard F. Schwartz, Colorado State University, Bugwood.org
Verticillium albo-atrum infected tree crown, USDA Forest Service Archive, USDA Forest Service, Bugwood.org
Verticillium spp. attack a very large host range including more than 350 species of vegetables, fruit trees, flowers, field crops, and shade or forest trees. Most vegetable species have some susceptibility, so it has a very wide host range.[1] A list of known hosts is at the bottom of this page.
The signs are similar to most wilts with a few specifics to Verticillium. Wilt itself is the most common sign, with wilting of the stem and leaves occurring due to the blockage of the xylem vascular tissues and therefore reduced water and nutrient flow. In small plants and seedlings, Verticillium can quickly kill the plant while in larger, more developed plants the severity can vary. Some times only one side of the plant will appear infected because once in the vascular tissues, the disease migrates mostly upward and not as much radially in the stem.[2] Other symptoms include stunting, chlorosis or yellowing of the leaves, necrosis or tissue death, and defoliation. Internal vascular tissue discoloration might be visible when the stem is cut.[1]
In Verticillium, the signs and effects will often only be on the lower or outer parts of plants or will be localized to only a few branches of a tree. In older plants, the infection can cause death, but often, especially with trees, the plant will be able to recover, or at least continue living with the infection. The severity of the infection plays a large role in how severe the signs are and how quickly they develop.[1]
## Disease cycle[edit]
While Verticillium spp. are very diverse, the basic life cycle of the pathogen is similar across species, except in their survival structures. The survival structures vary by species with V. albo-atrum forming mycelium, V. dahliae forming microsclerotia, V. nigrescens and V. nubilum forming chlamydospores, and V. tricorpus forming all three. While resting, many factors such as soil chemistry, temperature, hydration, micro fauna, and non-host crops all have an effect on the viability of the resting structure. Mycelium have been observed remaining viable for at least 4 years,[3] while microsclerotia have been observed in fields planted with non-host crops for over 10 years [4] and even 15 years has been reported.[1] Viability is reduced at these extremes, but the long survivability of these structures is an important aspect for Verticillium control.
When roots of a host crop come near the resting structure (about 2mm),[5] root exudate promotes germination and the fungi grows out of the structure and toward the plant. Being a vascular wilt, it will try to get to the vascular system on the inside of the plant, and therefore must enter the plant. Natural root wounds are the easiest way to enter, and these wounds occur naturally, even in healthy plants because of soil abrasion on roots. Verticillium has also been observed entering roots directly, but these infections rarely make it to the vascular system, especially those that enter through root hairs.[6]
Once the pathogen enters the host, it makes its way to the vascular system, and specifically the xylem. The fungi can spread as hyphae through the plant, but can also spread as spores. Verticillium produce conidia on conidiophores and once conidia are released in the xylem, they can quickly colonize the plant. Conidia have been observed traveling to the top of cotton plants, 115 cm, 24 hours after initial conidia inoculation, so the spread throughout the plant can occur very quickly.[7] Sometimes the flow of conidia will be stopped by cross sections of the xylem, and here the conidia will spawn, and the fungal hyphae can overcome the barrier, and then produce more conidia on the other side.[8]
A heavily infected plant can succumb to the disease and die. As this occurs, the Verticillium will form its survival structures and when the plant dies, its survival structures will be where the plant falls, releasing inoculates into the environment. The survival structures will then wait for a host plant to grow nearby and will start the cycle all over again.
Besides being long lasting in the soil, Verticillium can spread in many ways. The most common way of spreading short distances is through root to root contact within the soil. Roots in natural conditions often have small damages or openings in them that are easily colonized by Verticillium from an infected root nearby. Air borne conidia have been detected and some colonies observed, but mostly the conidia have difficulty developing above ground on healthy plants.[9] In open channel irrigation, V. dahliae have been found in the irrigation ditches up to a mile from the infected crop.
Without fungicidal seed treatments, infected seeds are easily transported and the disease spread, and Verticillium has been observed remaining viable for at least 13 months on some seeds. Planting infected seed potatoes can also be a source of inoculum to a new field. Finally, insects have also been shown to transmit the disease. Many insects including potato leaf hopper, leaf cutter bees, and aphids have been observed transmitting conidia of Verticillium and because these insects can cause damage to the plant creating an entry for the Verticillium, they can help transmit the disease.[2]
## Environment[edit]
While Verticillium wilts often have the same symptoms of Fusarium wilts, Verticillium can survive cold weather and winters much better than Fusarium, which prefers warmer climates. The resting structures of Verticillium are able to survive freezing, thawing, heat shock, dehydration, and many other factors and are quite robust and difficult to get rid of. The one factor they do not tolerate well is extended periods of anaerobic conditions (such as during flooding).[2]
Verticillium will grow best between 20 and 28 degrees Celsius,[1] but germination and growth can occur well below (or above) those temperatures. Water is necessary for resting structure germination, but is not as important for the spread of the fungus as in many other fungi. While not an environmental requirement for the fungus, stressed plants, often brought on by environmental changes, are easier to attack than healthy plants, so any conditions that will stress the plant but not directly harm the Verticillium will be beneficial for Verticillium wilt development.[2]
## Management[edit]
Verticillium wilt begins as a mild, local infection, which over a few years will grow in strength as more virile strains of the fungus develop. If left unchecked the disease will become so widespread that the crop will need to be replaced with resistant varieties, or a new crop will need to be planted altogether.[1]
Control of Verticillium can be achieved by planting disease–free plants in uncontaminated soil, planting resistant varieties, and refraining from planting susceptible crops in areas that have been used repeatedly for solanaceous crops. Soil fumigation can also be used, with chloropicrin being particularly effective in reducing disease incidence in contaminated fields.
In tomato plants, the presence of ethylene during the initial stages of infection inhibits disease development, while in later stages of disease development the same hormone will cause greater wilt. Tomato plants are available that have been engineered with resistant genes that will tolerate the fungus while showing significantly lower signs of wilting.[1]
Verticillium albo-altrum, Verticilium dahliae and V. longisporum can overwinter as melanized mycelium or microsclerotia within live vegetation or plant debris. As a result, it can be important to clear plant debris to lower the spread of disease. Verticilium dahliae and V. longisporum are able to survive as microsclerotia in soil for up to 15 years.[1]
Susceptible tomato seedlings inoculated with arbuscular mycorrhizal fungi and Trichoderma harzianum show increased resistance towards Verticillium wilt.[10]
## Importance[edit]
Verticillium wilt occurs in a broad range of hosts but has similar devastating effects on many of these plants. In general, it reduces the quality and quantity of a crop by causing discoloration in tissues, stunting, and premature defoliation and death.[11] Stock from infested nurseries may be restricted. Once a plant is infected, there is no way to cure it. Verticillium wilt is especially a concern in temperate areas and areas that are irrigated. Verticllium spp. can naturally occur in forest soils and when these soils are cultivated, the pathogen will infect the crop.[1]
The Salinas Valley in California has had severe problems with Verticillium wilt since 1995, most likely due to flooding in the winter of 1995. Many areas in the Salinas and Pajaro Valleys are unable to grow lettuce due to the high levels of Verticillium dahliae in the soil.[12] Potatoes grown in Verticillium infested soils may have a reduced yield between 30–50% compared to potatoes grown in "clean" soil. Verticillium wilt has also caused a shift in peppermint cultivation from the Midwest in the mid- to late-1800s to western states such as Oregon, Washington and Idaho, to new, non-infested areas within these states now.[11]
## Lists of plants susceptible or resistant[edit]
Replanting susceptible species on the site of a removed plant that has succumbed to V. albo-atrum or V. dahliae is inadvisable because of the heightened risk of infection. Instead, resistant or immune varieties should be used. The following two lists show both susceptible and resistant/immune plants by Latin name.[13][14][15][16][17][18]
(*) indicates that the plant occurs on both lists because different varieties or cultivars vary in their resistance.
(#) indicates that some strains are resistant.
(+) indicates susceptibility to some European strains of Verticillium albo-atrum.
### Susceptible plants[edit]
* Abelmoschus esculentus (also known as Hibiscus esculentus) (Okra)
* Abutilon spp. (Abutilon)
* Acer spp. (Maple)
* Acer negundo (Box Elder)
* Aconitum (Monkshood, Aconite)
* Aesculus hippocastanum (Horsechestnut)
* Aesculus glabra (Ohio Buckeye)
* Ailanthus altissima (Tree of Heaven)
* Albizia (Mimosa)
* Amaranthus retroflexus (Rough Pigweed)
* (*) Amelanchier (Serviceberry)
* Antirrhinum majus (Snapdragon)
* Arabidopsis thaliana (Thale cress)
* Arachis hypogaea (Peanut)
* Aralia cordata (Udo)
* Aralia racemosa (American spikenard)
* Armoracia lapathifolia (Horseradish)
* Aster spp. (Aster)
* Atropa belladonna (Belladonna)
* Aucuba (Aucuba)
* Berberis (Barberry)
* Brassica napus (Oilseed rape, Rapeseed)
* Brassica napobrassica (Rutabaga, Rapeseed)
* Brassica oleracea var. botrytis (Cauliflower)
* Brassica oleracea var. capitata (Cabbage)
* Brassica oleracea var. gemmifera (Brussel Sprouts)
* Buxus (Box, boxwood)
* Calceolaria spp. (Slipperwort)
* Callirhoe papaver (Poppy mallow)
* Callistephus chinensis (Chinese Aster)
* Camellia (Camellia)
* Campanula spp. (Bellflower)
* Campsis radicans (Trumpet Creeper)
* Cannabis sativa (Hemp, Marijuana)
* Capsicum spp. (Pepper)
* Carpobrotus edulis (Ice Plant)
* Carthamus tinctorius (Safflower)
* Carya illinoensis (Pecan)
* Catalpa speciosa (Northern Catalpa)
* Catalpa bignonioides (Southern Catalpa)
* Celosia argentea (Cockscomb)
* Centaurea cyanus (Cornflower, Bachelor's button)
* Centaurea imperialis (Sweet Sultan)
* Ceratonia siliqua (Carob)
* Cercis canadensis (Redbud)
* Cercis siliquastrum (Judas Tree)
* Chenopodium (Goosefoot)
* (#) Chrysanthemum spp. (Chrysanthemum, Marguerite etc.)
* Chrysanthemum leucanthemum (Oxeye Daisy)
* Cinnamomum camphora (Camphor tree)
* Cistus palhinhai (Rock rose)
* Cistus x purpureus (Orchid Spot rock rose)
* Citrullus vulgaris (Watermelon)
* Cladrastis lutea (Yellow wood)
* Clarkia elegans (Clarkia)
* Coreopsis lanceolata (Tickseed)
* (*) Cornus (Dogwood)
* Cosmos (Cosmos)
* Cotinus coggygria (Smoke Tree)
* Cupaniopsis anacardioides (Carrotwood)
* Cucumis melo (Honeydew, Cantaloupe and other melons)
* Cucumis sativus (Cucumber)
* Cucurbita pepo (Pumpkin)
* Cydonia oblonga (Quince)
* Cynara cardunculus (Globe artichoke)
* Dahlia variabilis (Dahlia)
* Delphinium ajacis (Rocket larkspur)
* Digitalis purpurea (Foxglove)
* Dimorphotheca sinuata (Cape marigold)
* Diospyros virginiana (persimmon)
* Dodonaea viscosa (Hopseed)
* Echinacea purpurea (Eastern purple coneflower)
* Elaeagnus (Oleaster, Russian Olive)
* Erica spp. (Heather)
* Erigeron (Fleabane)
* Eschscholzia californica (California poppy)
* Ficus benjamina (Weeping Fig)
* Ficus retusa (Indian Laurel)
* (#) Fragaria chiloensis (Strawberry)
* Fraxinus pennsylvanica (Ash)
* Fremontodendron spp. (Flannel bush, Fremontia)
* Fuchsia spp. (Fuchsia)
* Gerbera jamesonii (Transvaal daisy)
* Gossypium spp. (Cotton)
* Gymnocladus dioicus (Kentucky Coffeetree)
* Hebe bollonsii (Hebe)
* Hebe x carnea 'Carnea' (Hebe)
* Hebe lewisii (Hebe)
* Hedera (Ivy)
* Helianthus spp. (Sunflower)
* Helichrysum bracteatum (Strawflower)
* Heliotropium arborescens (Heliotrope)
* Humulus (Hop)
* Impatiens balsamina (Garden balsam)
* Impatiens walleriana (Busy Lizzie)
* Jasminum (Jasmine)
* Juglans regia (English walnut)
* Koelreuteria paniculata (goldenrain tree)
* Lampranthus spectabilis (Ice plant)
* Lathyrus odoratus (Sweet pea)
* Liatris spp. (Gayfeather)
* Ligustrum spp. (Privet)
* Linum usitatissimum (Linseed)
* Liriodendron tulipifera (tulip tree)
* Lobelia erinus (Lobelia)
* Lonicera (Honeysuckle)
* Lupinus polyphyllus (Lupin)
* (#) Lycopersicon esculentum (Tomato)
* Maclura pomifera (Osage orange)
* Magnolia (Magnolia)
* Matthiola incana (Stock)
* Melia azedarach (Chinaberry, Persian Lilac)
* Mentha spp. (Mint)
* Monarda fistulosa (Wild Bergamot)
* Nandina domestica (Heavenly bamboo)
* Nicotiana benthamiana (Australian tobacco)
* Nyssa sylvatica (Black Gum)
* Olea europaea (Olive)
* Osteospermum (African daisy)
* Paeonia spp. (Peony)
* Panax quinquefolius (American ginseng)
* Papaver orientale (Oriental poppy)
* Parthenium argentatum (Guayule)
* Parthenocissus (Virginia Creeper)
* Pelargonium spp. (Pelargonium, Geranium)
* Persea americana (Avocado)
* Petunia (Petunia)
* Pistacia (Pistachio)
* Phlox spp. (Phlox)
* Phellodendron (Cork Tree)
* Physalis alkekengi (Chinese lantern plant)
* Polemonium spp. (Polemonium)
* Populus tremula (European aspen)
* Prunus (Cherry, Plum, Peach, Almond, other stone fruit)
* Pyrola spp. (Pyrola)
* Quercus palustris (Pin Oak)
* Quercus rubra (Red oak)
* Raphanus sativus (Radish)
* Reseda odorata (Mignonette)
* Rhaphiolepis (India Hawthorn, Yeddo Hawthorn)
* Rheum rhaponticum (Rhubarb)
* Rhododendron (Azalea, Rhododendron)
* Rhus (Sumac, Lemonade berry)
* Ribes (Gooseberry, Black, White, Red and other currants)
* Ricinus communis (Castor bean)
* Robinia pseudoacacia (Black Locust)
* Romneya coulteri (Tree poppy)
* Rorippa islandica (Marsh Cress)
* Rosa (Rose)
* Rosmarinus officinalis (Rosemary)
* (#) Rubus (Black-, Rasp-, Dew- and other berries)
* Rudbeckia serotinia (Black-eyed susan)
* Salpiglossis sinuata (Painted tongue)
* Salvia farinacea (Mealycup sage)
* Salvia haematodes (Sage)
* Salvia azurea (Blue sage)
* Sambucus spp. (Elderberry)
* Sassafras albidum (Sassafras)
* Schinus (Pepper Tree)
* Schizanthus pinnatus (Butterfly flower)
* Senecio cruentus (Cineraria)
* Senecio vulgaris (Groundsel)
* Sisymbrium irio (London rocket)
* Solanum aethiopicum (Ethiopian Eggplant)
* Solanum carolinense (Carolina horsenettle)
* Solanum elaeagnifolium (White horsenettle)
* Solanum melongena (Eggplant)
* Solanum nigrum (Black nightshade)
* Solanum sarrachoides (Hairy Nightshade)
* Solanum tuberosum (Potato)
* Sorbus torminalis (Wild Service Tree)
* Spinacia oleracea (Spinach)
* Spirea (Meadowsweet, Spirea)
* Styphnolobium (Japanese pagoda tree)
* Syringa (Lilac)
* Taraxacum officinale (Dandelion)
* Tetragonia tetragonioides (formerly T. expansa) (New Zealand spinach)
* (*) Tilia (Lime, Linden)
* Trachelospermum jasminoides (Star jasmine)
* Tragopogon porrifolius (Salsify)
* Ulmus americana (American elm)
* Ulmus procera (English elm)
* Ulmus rubra (Slippery elm)
* Venidium spp. (Namaqualand daisy)
* Viburnum spp. (Viburnum, Wayfaring tree)
* Vigna sesquipedalis (Yard-long bean)
* Vigna sinensis (Cowpea)
* Vitis (Grapevine)
* Weigela (Weigela)
### Plants resistant or immune[edit]
#### Families[edit]
* Cactaceae (Cactii)
* Graminae (Grasses, Grains, etc.)
* Gymnospermae (Firs, Pines, etc.)
* Monocotyledoneae (Bamboos, Bananas, Gladiolae, Grasses, Lilies, etc.)
* Polypodiaceae (Ferns)
#### Species[edit]
Acer pseudoplatanus (Sycamore)
* Ageratum spp. (Ageratum)
* Alnus spp. (Alder)
* Alyssum spp. (Alyssum)
* Althaea rosea (Hollyhock)
* (*) Amelanchier spp. (Serviceberry)
* Anemone spp. (Anemone)
* Apium graveolens (Celery)
* Aquilegia spp. (Columbine)
* Arctostaphylos spp. (Manzanita)
* Asimina triloba (Pawpaw)
* Asparagus officinalis (Asparagus)
* Begonia semperflorens (Waxy or fibrous Begonia)
* Begonia tuberhybrida (Tuberous Begonia)
* Bellis perennis (English daisy)
* Betula spp. (Birch, Hophornbeam)
* Brassica oleracea Italica Group (Broccoli)
* Browallia spp. (Browallia)
* Buxus spp. (Boxwood)
* Calendula officinalis (Marigold)
* Carpinus spp. (Ironwood, Hornbeam)
* Carya (Hickory, Pecan)
* Castanea mollissima (Chinese chestnut)
* Ceanothus spp. (Californian Lilac, Ceanothus, Red root)
* Celtis spp. (Hackberry)
* Cercidiphyllum japonicum (Katsura Tree)
* Cheiranthus cheiri (Wallflower)
* Cistus corbariensis (White rock rose)
* Cistus salvifolius (Sage-leaf rock rose)
* Cistus tauricus (Rock rose)
* Citrus spp. (Orange, Lemon, Grapefruit, etc.)
* Cleome spp. (Cleome)
* (*) Cornus spp. (Dogwood)
* Crataegus spp. (Hawthorn)
* Daucus carota (Carrot)
* Dianthus spp. (Carnation, Pink, Sweet William)
* Eucalyptus spp. (Eucalyptus)
* Fagus spp. (Beech)
* Ficus carica (Fig)
* Gaillardia spp. (Gaillardia)
* Geum spp. (Geum)
* Gleditsia spp. (Honey locust)
* Gypsophila paniculata (Baby's breath)
* Hebe anonda (Hebe)
* Hebe x franciscana (Hebe)
* Hebe x menziesii (Hebe)
* Hebe salicifolia (Hebe)
* Helianthemum nummularium (Sun rose)
* Helleborus niger (Hellebore, Christmas Rose)
* Heuchera sanguinea (Coral bells)
* Iberis spp. (Candytuft)
* Ilex spp. (Holly)
* Impatiens sultani (Hardy Busy Lizzy)
* Ipomoea batatas (Sweet potato)
* Juglans spp. (Walnut, Butternut)
* Juniperus spp. (Juniper)
* Lactuca spp. (Lettuce)
* Lantana spp. (Lantana)
* Larix spp. (larch)
* Liquidambar styraciflua (Sweet gum)
* Lunaria annua (Honesty)
* (+) Malus spp. (Apple)
* (+) Medicago sativa (Alfalfa)
* Mimulus spp. (Monkey flower)
* Morus spp. (Mulberry)
* Nemesia strumosa (Nemesia)
* Nemophila menziesii (Baby blue eyes)
* Nerium oleander (Oleander)
* Nierembergia frutescens (Cupflower)
* Oenothera spp. (Evening primrose)
* Penstemon spp. (Penstemon)
* Phaseolus spp. (Bean)
* Pisum sativum (Pea)
* Platanus spp. (Sycamore, Plane tree)
* Platycodon grandiflorus (Balloon flower)
* Populus (Poplar)
* Portulaca grandiflora (Moss rose)
* Potentilla spp. (Potentilla)
* Primula spp. (Primrose)
* Pyracantha spp. (Firethorn)
* (+) Pyrus spp. (Pear)
* Quercus alba (White oak)
* Quercus falcata (Southern red oak)
* Quercus phellos (Willow oak)
* Quercus virginiana (Live oak)
* Ranunculus asiaticus (Persian buttercup)
* Saintpaulia ionantha (African violet)
* Scabiosa atropurpurea (Scabious)
* Salix spp. (Willow)
* Sorbus aucuparia (European mountain ash)
* (*) Tilia (Lime, Linden)
* Torenia fournieri (Wishbone plant)
* Tropaeolum majus (Nasturtium)
* Umbellularia californica (Californian laurel)
* Verbena hybrida (Verbena)
* Vinca minor (Periwinkle)
* Viola spp. (Pansy, Viola, Violet)
* Zelkova serrata (Zelkova)
* Zinnia spp. (Zinnia)
## References[edit]
1. ^ a b c d e f g h i Agrios, George N. Plant Pathology, 5th Edition.
2. ^ a b c d Pegg, G.F., Brady, B.L. (2002) Verticillium Wilts, CABI Publishing, New York, NY.
3. ^ Luck, J.V. (1954) Studies on the Verticillium wilt of Mentha piperita L. with special emphasis on the causal organism, Verticillium albo-atrum R. &B. Dissertation Abstracts 14, 916-917.
4. ^ Wilhelm, S. (1955) Longevity of the Verticillium wilt fungus in the laboratory and field. Phytopathology 455, 180-181.
5. ^ Sewell, G.W.F. (1959) Direct observation of Verticillium albo-atrum in soil. Transactions of the British Mycological Society 42, 312-321.
6. ^ Garber, R.H. (1973) United States Department of Agriculture Publication 1. ARS-S-19. pp. 69-77.
7. ^ Presley, J. T., Carns, H.R., Taylor, E.E. and Schnathorst, W.C. (1966) Movement of conidia of Verticillium albo-atrum in cotton plants. Phytopathology 56, 375.
8. ^ Knoll, F.A. (1972) Untersuchungen zur Ausbrreitung gefassbesiedelnder Verticillium Arten in Luzernepflanzen. Zentralblatt für Bakteriologie, Parasitenkunde, Infektionskrankheiten und Hygiene 127, 332-345.
9. ^ Easton, G.D., Nagle, M.E. and Bailey, D.L. (1969) A method of estimating Verticillium albo-atrum propagules in field soil and irrigation waste water. Phytopathology 59, 1171-1172.
10. ^ Chliyeh, Mohamed; Chahdi, Abdellatif Ouazzani; Selmaoui, Karima; Touhami, Amina Ouazzani; Abdelkarim, Filali-Maltouf; Modafar, C. El; Abdelmajid, Moukhli; Oukabli, Ahmed; Benkirane, Rachid; Douira, Allal (February 2014). "EFFECT OF TRICHODERMA HARZIANUM AND ARBUSCULAR MYCORRHIZALFUNGI AGAINST VERTICILLIUM WILT OF TOMATO". International Journal of Recent Scientific Research. Retrieved 16 April 2017.
11. ^ a b "Verticillium wilt". apsnet.org. St. Paul, MN: The American Phytopathological Society (APS). Retrieved January 7, 2020.
12. ^ http://www.calseed.org/documents/Verticillium%20Dahliae%20Information%20Sheet%20ver%206%201%2009.doc
13. ^ W. A. Sinclair and G. W. Hudler, "Cornell Tree Pest Leaflet A-3 (Revised), 12/84. Diseases of Trees and Shrubs, 2nd Edition, Sinclair and Lyon, 2005".
14. ^ R. J. Stipes, Professor of Plant Pathology, Virginia Tech and Mary Ann Hansen, Extension Plant Pathologist, Virginia Tech, "Verticillium Wilt of Shade Trees Archived 2009-01-17 at the Wayback Machine", Publication Number: 450-619, Posted May 2000"
15. ^ Cynthia L. Ash, "Verticillium Wilt of Trees and Shrubs", 1994)
16. ^ Department of Crop Sciences, University of Illinois at Urbana-Champaign: "Report on Plant Diseases", 1997)
17. ^ University of California Agriculture and Natural Resources, "Resistant or susceptible to Verticillium Wilt", Publication 2703 First published 1981
18. ^ Verticillium wilt of vegetables and herbaceous ornamentals,2011-3-20
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Verticillium wilt
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None
| 25,945 |
wikipedia
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https://en.wikipedia.org/wiki/Verticillium_wilt
| 2021-01-18T18:49:39 |
{"wikidata": ["Q500536"]}
|
This article is about traumatic liver injuries. For drug-induced liver injury, see Hepatoxicity.
Form of trauma sustained to the liver
Liver injury
An extensive rupture of the liver
SpecialtyEmergency medicine
A liver injury, also known as liver laceration, is some form of trauma sustained to the liver. This can occur through either a blunt force such as a car accident, or a penetrating foreign object such as a knife.[1] Liver injuries constitute 5% of all traumas, making it the most common abdominal injury.[2] Generally nonoperative management and observation is all that is required for a full recovery.
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Classification
* 3 Management
* 3.1 Surgery
* 4 History
* 5 References
* 6 Bibliography
* 7 External links
## Cause[edit]
Given its anterior position in the abdominal cavity and its large size, it is prone to gun shot wounds and stab wounds.[2] Its firm location under the diaphragm also makes it especially prone to shearing forces.[1] Common causes of this type of injury are blunt force mechanisms such as motor vehicle accidents, falls, and sports injuries. Typically these blunt forces dissipate through and around the structure of the liver[3] and causes irreparable damage to the internal microarchitecture of the tissue.[4] With increasing velocity of the impact, the internal damage of the liver tissue also exemplifies[clarification needed] \- even though the tissue itself is mechanically and micro-structurally isotropic.[5] A large majority of people who sustain this injury also have another accompanying injury.[1]
## Diagnosis[edit]
Grade 4 liver laceration
Imaging, such as the use of ultrasound or a computed tomography scan, is the generally preferred way of diagnosis as it is more accurate and is sensitive to bleeding, however; due to logistics this is not always possible.[6] For a person who is hemodynamically unstable a focused assessment with sonography for trauma (FAST) scan may take place which is used to find free floating fluid in the right upper quadrant and left lower quadrant of the abdomen. The FAST scan however may not be indicated in those who are obese and those with subcutaneous emphysema.[7] Its speed and sensitivity to injuries resulting in 400mL of free-floating fluid make it a valuable tool in the evaluation of unstable persons. Computed tomography is another diagnostic study which can be performed, but typically is only used in those who are hemodynamically stable.[7] A physical examination may be used but is typically inaccurate in blunt trauma, unlike in penetrating trauma where the trajectory the projectile took can be followed digitally.[8] A diagnostic peritoneal lavage (DPL) may also be utilized but has limited application as it is hard to determine the origin of the bleeding.[9] A diagnostic peritoneal lavage is generally discouraged when FAST is available as it is invasive and non-specific.[7]
### Classification[edit]
The Liver Injury Scale classification[1][2] Grade Subcapsular hematoma Laceration
I <10% surface area <1 cm in depth
II 10–50% surface area 1–3 cm
III >50% or >10 cm >3 cm
IV 25–75% of a hepatic lobe
V >75% of a hepatic lobe
VI Hepatic avulsion
Liver injuries are classified on a Roman numeral scale with I being the least severe, to VI being the most severe. Generally any injury ≥III requires surgery.[3][10]
## Management[edit]
The initial management of liver trauma generally follows the same procedures for all traumas with a focus on maintaining airway, breathing, and circulation. A physical examination is a corner stone of the assessment of which there are various non-invasive means of diagnostic tools that can be utilized.[3] An invasive diagnostic peritoneal lavage can also be used to diagnose and classify the extent of the damage.[11][12] A large majority of liver injuries are minor and require only observation.[13] Generally if there is estimated to be less than 300mL of free floating fluid, no injury to surrounding organs, and no need for blood transfusion, there is a low risk of complication from nonoperative management.[1] In special cases where there is a higher risk with surgery, such as in the elderly, nonoperative management would include the infusion of packed red blood cells in an intensive care unit.[2] Typically hepatic injuries resulting from stab wounds cause little damage unless a vital part of the liver is injured, such as the hepatic portal vein; with gunshot wounds, the damage is worse.[14]
### Surgery[edit]
In severe liver injuries (class ≥III), or those with hemodynamic instability, surgery is generally necessary.[7] Surgical techniques such as perihepatic packing or the use of the Pringle manoeuvre can be used to control hemorrhage.[2][3] Temporary control of the hemorrhage can be accomplished through direct manual pressure to the wound site.[2] In these severe cases it is important to prevent the progression of the trauma triad of death, which often requires the utilization of damage control surgery.[12] New devices are being developed in order to control the bleeding using negative pressure.[15]
The common cause of death while operating is exsanguination caused by profuse loss of blood volume.[16] Rarely, surgery entails the use of liver resection, which removes the source of the bleeding and necrotic tissue. The drastic nature of this procedure means it can only be used in hemodynamically stable patients.[10] Another rare procedure would be liver transplantation which is typically impractical due to the logistics of finding a proper organ donor in a timely fashion.[17]
## History[edit]
In the 1880s a severe liver injury would in most cases prove fatal in the first 24 hours after sustaining the injury.[18] Before the 1980s nonoperative management was seldom used in favor of the methods of management suggested by James Hogarth Pringle.[19][20] During World War II the use of early laparotomy was popularized and in conjunction with the use of transfusions, advanced anesthetics, and other new surgical techniques led to decreased mortality.[21]
## References[edit]
1. ^ a b c d e Piper GL, Peitzman AB (August 2010). "Current management of hepatic trauma". The Surgical Clinics of North America. 90 (4): 775–85. doi:10.1016/j.suc.2010.04.009. PMID 20637947.
2. ^ a b c d e f Cothren CC, Moore EE (August 2008). "Hepatic Trauma". European Journal of Trauma and Emergency Surgery. 34 (4): 339–54. doi:10.1007/s00068-008-8029-5. PMID 26815811.
3. ^ a b c d Bouras AF, Truant S, Pruvot FR (December 2010). "Management of blunt hepatic trauma". Journal of Visceral Surgery. 147 (6): e351-8. doi:10.1016/j.jviscsurg.2010.10.004. PMID 21111696.
4. ^ Chen J, Brazile B, Prabhu R, Patnaik SS, Bertucci R, Rhee H, Horstemeyer MF, Hong Y, Williams LN, Liao J (July 2018). "Quantitative Analysis of Tissue Damage Evolution in Porcine Liver With Interrupted Mechanical Testing Under Tension, Compression, and Shear". Journal of Biomechanical Engineering. 140 (7): 071010. doi:10.1115/1.4039825. PMC 5938066. PMID 29715364.
5. ^ Williams, Lakiesha N.; Liao, Jun; Horstemeyer, Mark F.; Marin, Esteban; Bouvard, Jean-Luc; Priddy, Lauren B.; Prabhu, R. K.; Patnaik, Sourav S.; Chen, Joseph (June 2019). "Mechanical Response of Porcine Liver Tissue under High Strain Rate Compression". Bioengineering. 6 (2): 49. doi:10.3390/bioengineering6020049. PMC 6630843. PMID 31151177.
6. ^ Moore 2012, p. 543
7. ^ a b c d Coccolini F, Montori G, Catena F, Di Saverio S, Biffl W, Moore EE, Peitzman AB, Rizoli S, Tugnoli G, Sartelli M, Manfredi R, Ansaloni L (2015-01-01). "Liver trauma: WSES position paper". World Journal of Emergency Surgery. 10: 39. doi:10.1186/s13017-015-0030-9. PMC 4548919. PMID 26309445.
8. ^ Pietzman 2002, p. 255
9. ^ Moore 2012, p. 542
10. ^ a b Krawczyk M, Arkuszewski P (2009). "Surgical Management of Liver Trauma". Polish Journal of Surgery. 81 (11): 554. doi:10.2478/v10035-009-0090-1.
11. ^ Moore 2012, p. 541
12. ^ a b Stracieri LD, Scarpelini S (2006). "Hepatic injury". Acta Cirurgica Brasileira. 21 Suppl 1: 85–8. doi:10.1590/s0102-86502006000700019. PMID 17013521.
13. ^ American College of Surgeons (2004). Atls, Advanced Trauma Life Support Program for Doctors. Amer College of Surgeons. ISBN 978-1-880696-14-9.
14. ^ Kenneth D. Boffard (2007). Manual of definitive surgical trauma care. London: Hodder Arnold. pp. 108. ISBN 978-0-340-94764-7.
15. ^ Segura-Sampedro, Juan José; Pineño-Flores, Cristina; Craus-Miguel, Andrea; Morales-Soriano, Rafael; González-Argente, Francesc Xavier (2019-12-16). "New hemostatic device for grade IV–V liver injury in porcine model: a proof of concept". World Journal of Emergency Surgery. 14 (1): 58. doi:10.1186/s13017-019-0277-7. ISSN 1749-7922. PMID 31889989.
16. ^ Ahmed I, Beckingham IJ (2007). "Liver trauma". Trauma. 9 (3): 171–180. doi:10.1177/1460408607086775.
17. ^ Parks RW, Chrysos E, Diamond T (September 1999). "Management of liver trauma". The British Journal of Surgery. 86 (9): 1121–35. doi:10.1046/j.1365-2168.1999.01210.x. PMID 10504364.
18. ^ Moynihan BB (1906). Abdominal operations. Saunders. p. 563. Retrieved 2012-08-04.
19. ^ Pringle JH (October 1908). "V. Notes on the Arrest of Hepatic Hemorrhage Due to Trauma". Annals of Surgery. 48 (4): 541–9. doi:10.1097/00000658-190810000-00005. PMC 1406963. PMID 17862242.
20. ^ Feliciano DV, Rozycki GS (2002). "Hepatic trauma". Scandinavian Journal of Surgery. 91 (1): 72–9. doi:10.1177/145749690209100112. PMID 12075841.
21. ^ Moore 2012, p. 539
## Bibliography[edit]
* Feliciano DV, Mattox KL, Moore EJ (2012). Trauma, Seventh Edition (Trauma (Moore)). McGraw-Hill Professional. ISBN 978-0-07-166351-9.
* Peitzman AB, Sabom M, Yearly DM, Fabian TC (2002). The trauma manual. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 978-0-7817-2641-2.
## External links[edit]
Classification
D
* ICD-10: S36.1
* ICD-9-CM: 864
* v
* t
* e
Nonmusculoskeletal injuries of abdomen and pelvis
Abdomen / GI
* Ruptured spleen
* Blunt splenic trauma
* Traumatic diaphragmatic hernia
* Gastrointestinal perforation
* Liver injury
* Pancreatic injury
Pelvic
* Uterine perforation
* Penile fracture
* v
* t
* e
Trauma
Principles
* Polytrauma
* Major trauma
* Traumatology
* Triage
* Resuscitation
* Trauma triad of death
Assessment
Clinical prediction rules
* Revised Trauma Score
* Injury Severity Score
* Abbreviated Injury Scale
* NACA score
Investigations
* Diagnostic peritoneal lavage
* Focused assessment with sonography for trauma
Management
Principles
* Advanced trauma life support
* Trauma surgery
* Trauma center
* Trauma team
* Damage control surgery
* Early appropriate care
Procedures
* Resuscitative thoracotomy
Pathophysiology
Injury
* MSK
* Bone fracture
* Joint dislocation
* Degloving
* Soft tissue injury
* Resp
* Flail chest
* Pneumothorax
* Hemothorax
* Diaphragmatic rupture
* Pulmonary contusion
* Cardio
* Internal bleeding
* Thoracic aorta injury
* Cardiac tamponade
* GI
* Blunt kidney trauma
* Ruptured spleen
* Neuro
* Penetrating head injury
* Traumatic brain injury
* Intracranial hemorrhage
Mechanism
* Blast injury
* Blunt trauma
* Burn
* Penetrating trauma
* Crush injury
* Stab wound
* Ballistic trauma
* Electrocution
Region
* Abdominal trauma
* Chest trauma
* Facial trauma
* Head injury
* Spinal cord injury
Demographic
* Geriatric trauma
* Pediatric trauma
Complications
* Posttraumatic stress disorder
* Wound healing
* Acute lung injury
* Crush syndrome
* Rhabdomyolysis
* Compartment syndrome
* Contracture
* Volkmann's contracture
* Embolism
* air
* fat
* Chronic traumatic encephalopathy
* Subcutaneous emphysema
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Liver injury
|
c0160390
| 25,946 |
wikipedia
|
https://en.wikipedia.org/wiki/Liver_injury
| 2021-01-18T18:54:04 |
{"umls": ["C0160390"], "icd-9": ["864"], "icd-10": ["S36.1"], "wikidata": ["Q6658207"]}
|
## Clinical Features
Gorlin et al. (1990) used the designation Crane-Heise syndrome for a severe lethal syndrome observed in 3 sibs, 2 of whom were female, by Crane and Heise (1981). The first-born sib showed disproportionately large head with small face, depressed nasal bridge with anteverted nares, micrognathia, apparent ocular hypertelorism, low-set and posteriorly rotated ears with hypoplastic helix, short neck, partial soft tissue syndactyly of the fingers and toes involving interdigital spaces 2 to 4, and bilateral talipes equinovarus. The infant died at 2 weeks of age. Distinctive radiologic features included absence of cervical vertebrae and clavicles and hypoplastic scapulas, as well as very poorly mineralized calvarium, leading to a prenatal diagnosis of anencephaly. The first affected sib was delivered at term and was small for gestational age. The diagnosis in the 2 later sibs was made prenatally by ultrasonography. The second-born affected sib died 2 days after birth. The parents elected to terminate the third affected pregnancy at 17 weeks' gestation. Gorlin (1994) knew of another unpublished case.
Characteristic features of the Crane-Heise syndrome include poorly mineralized calvaria and clavicular hypoplasia, facial anomalies with severe micrognathia and cleft palate, hypertelorism, and broad and wide nostrils. Some of the features resemble those of the aminopterin syndrome sine aminopterin (600325), leading Barnicoat et al. (1994) to suggest that they represent part of a spectrum of severity that includes these 2 conditions.
Zand et al. (2003) described a family in which 2 sibs showed features strikingly similar to those presented by Crane and Heise (1981), as well as distinct clinical differences, including distal phalangeal hypoplasia and mild cardiac and gastrointestinal abnormalities. No cytogenetic, molecular, or biochemical findings helped elucidate the basis of this rare 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
|
CRANE-HEISE SYNDROME
|
c1857532
| 25,947 |
omim
|
https://www.omim.org/entry/218090
| 2019-09-22T16:29:17 |
{"mesh": ["C536452"], "omim": ["218090"], "orphanet": ["1512"], "synonyms": ["Alternative titles", "CLEFT LIP/PALATE, AGENESIS OF CLAVICLES AND CERVICAL VERTEBRAE, AND TALIPES EQUINOVARUS"]}
|
Automatic negative thoughts (ANT) are thoughts that are negative and random in nature in reference to one’s self.[1][2][3]
## Contents
* 1 Measures
* 2 Depression
* 3 Social anxiety disorder
* 4 Reducing Automatic Negative Thoughts
* 4.1 Mindfulness
* 5 See also
* 6 References
## Measures[edit]
The Automatic Thought Questionnaire 30 (ATQ 30) is a scientific questionnaire created by Steven D. Hollon and Phillip C. Kendall that measures automatic negative thoughts. The ATQ 30 consists of 30 negative statements and asks participants to indicate how often they experienced the negative thought during the course of the week on a scale of 1–5 (1=Low-High=5).[4][5] This measure was created in response to Aaron T. Beck’s hypothesis that thinking in depressed populations tends to be negative.[5] Example statements include "I'm worthless", "I've let people down", "I can't get started" and "My future is bleak".[4][6][7]
## Depression[edit]
It has been suggested in some studies that depression is associated with having increased levels of automatic negative thoughts. Additionally, the extent of automatic negative thoughts experienced is associated with depression severity.[8]
## Social anxiety disorder[edit]
Main article: Social anxiety disorder
In this disorder, people experience a high degree of fear and avoidance of social situations. There has not been much research conducted to date on the association between automatic thoughts and social anxiety disorder. However, one study by Iancu and colleagues attempted to evaluate a possible relationship. They proposed a possible relationship because of the distorted thinking that occurs with social anxiety disorder. In their study, the researchers selected a group of individuals who were diagnosed with social anxiety disorder, and then administered them automatic thought questionnaires. The study found that people with higher levels of automatic negative thoughts were more likely to show more fear and avoidance. In addition, levels of automatic thoughts that were measured were correlated with severity of symptoms.[1]
## Reducing Automatic Negative Thoughts[edit]
### Mindfulness[edit]
Main article: Mindfulness-based cognitive therapy
Mindfulness is a technique used to help people focus on the present moment, thereby helping in restructuring distorted thoughts and feelings. Some studies suggest that mindfulness reduces automatic negative thinking.[9] Ritvo and colleagues found that university students going through a series of mindfulness courses had an overall group reduction in automatic negative thoughts.[9]
## See also[edit]
* Social anxiety disorder
* Depression (mood)
* Major depressive disorder
## References[edit]
1. ^ a b Iancu, Iulian; Bodner, Ehud; Joubran, Samia; Lupinsky, Yelena; Barenboim, Damian (June 1, 2015). "Negative and Positive Automatic Thoughts in Social Anxiety Disorder". Israel Journal of Psychiatry & Related Sciences. 52 (2): 129–136.
2. ^ Flintoff, John-Paul (2014-08-10). "How to silence negative thinking". the Guardian. Retrieved 2018-01-21.
3. ^ "How to Stop Negative Thinking with 3 Simple Steps". Inc.com. 2015-05-07. Retrieved 2018-01-21.
4. ^ a b Netemeyer, Richard; Williamson, Donald; Burton, Scot; Biswas, Dipayan; Jindal, Supriya; Landreth, Stacy; Mills, Gregory; Primeaux, Sonya (Oct 2003). "Psychometric properties of shortened versions of the Automatic Thoughts Questionnaire". Educational and Psychological Measurement. 63 (5): 111–129.
5. ^ a b Hollon, Steven; Kendall, Philip (December 1980). "Cognitive self-statements in depression: Development of an automatic thoughts questionnaire". Cognitive Therapy and Research. 4 (4): 383–395. doi:10.1007/bf01178214.
6. ^ Jain, Renee (2016-12-12). "How to Stop Automatic Negative Thoughts". Huffington Post. Retrieved 2018-01-21.
7. ^ Stein, Dan J.; Kupfer, David J.; Schatzberg, Alan F., eds. (2007). The American Psychiatric Publishing Textbook of Mood Disorders. American Psychiatric Pub. p. 362. ISBN 9781585627165.
8. ^ Harrel, Thomas; Ryon, Nancy (Oct 1983). "Cognitive-behavioral assessment of depression: Clinical validation of the Automatic Thoughts Questionnaire". Journal of Consulting and Clinical Psychology. 51 (5): 721–725. doi:10.1037/0022-006x.51.5.721.
9. ^ a b Ritvo, Paul; Vora, Khushboo; Irvine, Jane; Mongrain, Myriam; Azargive, Saam; Abid Azam, Muhammad; Pirbaglou, Meysam; Guglietti, Crissa; Wayne, Noah; Perez, Daniel; Cribbie, Rob (October 24, 2013). "Reductions in Negative Automatic Thoughts in Students Attending Mindfulness Tutorials Predicts Increased Life Satisfaction". International Journal of Educational Psychology.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Automatic negative thoughts
|
c0424004
| 25,948 |
wikipedia
|
https://en.wikipedia.org/wiki/Automatic_negative_thoughts
| 2021-01-18T18:33:25 |
{"umls": ["C0424004"], "wikidata": ["Q48999450"]}
|
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (June 2013)
Ophiasis
SpecialtyDermatology
Ophiasis[1] is a form of alopecia areata characterized by the loss of hair in the shape of a wave at the circumference of the head.[2]
It gets its name from Greek ὄφις ophis 'snake' because of the apparent similarity to a snake-shape and the pattern of hair loss.[3]
The term "sisaipho" is used to characterize the inverse pattern. Sisaipho is, almost, the reverse spelling of ophiasis.[4] It is also called "ophiasis inversus".[5]
This form of hair loss "...targets the body's own hair follicles, resulting in hair loss..." and although the immune system could be attacking hair follicle melanocytes, dermal papilla cells, and keratinocytes,” the foundational cause of this disease is yet to be confirmed.[6]
## Contents
* 1 Pattern of hair loss
* 2 Duration of hair loss
* 3 References
* 4 External links
## Pattern of hair loss[edit]
This is one among many types of patterns of hair loss, “in which they have band-link hair loss across the occiput.”[7] Hair loss can take the form of patches of hair being removed and there can also be spontaneous regrowth as well.[7]
## Duration of hair loss[edit]
Ophiasis hair loss is one form in which the hair loss can further deteriorate and can extend “for more than a year.”[7]
## 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. ^ "DermaCase". Archived from the original on 2012-03-24. Retrieved 2007-12-03.
3. ^ "Definition: ophiasis from Online Medical Dictionary". Retrieved 2007-12-03.
4. ^ "eMedicine – Alopecia Areata : Article by Chantal Bolduc, MD, FRCPC". Retrieved 2007-12-03.
5. ^ Muñoz-Pèrez MA, Camacho FM (1999). "Sisaipho. Why ophiasis inversus?". Pediatr Dermatol. 16 (1): 76. doi:10.1046/j.1525-1470.1999.016001076.x. PMID 10028012.
6. ^ Khan, Pooya; Beigi, Mohammad (2018), "Diffuse Alopecia Areata", Alopecia Areata, Springer International Publishing, pp. 9–11, doi:10.1007/978-3-319-72134-7_2, ISBN 9783319721330
7. ^ a b c Khan, Pooya; Beigi, Mohammad (2018), Alopecia Areata, Springer International Publishing, pp. 39–54, doi:10.1007/978-3-319-72134-7_8, ISBN 9783319721330
## External links[edit]
Classification
D
* ICD-10: L63.2
* ICD-9-CM: 704.01
* Cheng Tan, MD; Wen-Wuan Zhu, MD. "Mosaic Hair Regrowth Pattern of Ophiasis and Androgenic Alopecia in a Patient With Alopecia Areata Totalis". Medscape.CS1 maint: uses authors parameter (link)
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ophiasis
|
c0263478
| 25,949 |
wikipedia
|
https://en.wikipedia.org/wiki/Ophiasis
| 2021-01-18T19:07:46 |
{"umls": ["C0263478"], "icd-9": ["704.01"], "icd-10": ["L63.2"], "wikidata": ["Q1744674"]}
|
Transient synovitis
Other namesTransitory coxitis, Coxitis fugax, Acute transient epiphysitis, Coxitis serosa seu simplex, Phantom hip disease, Observation hip.[1]
The hip joint is formed between the femur and acetabulum of the pelvis.
SpecialtyRheumatology
Transient synovitis of hip (also called toxic synovitis; see below for more synonyms) is a self-limiting condition in which there is an inflammation of the inner lining (the synovium) of the capsule of the hip joint. The term irritable hip refers to the syndrome of acute hip pain, joint stiffness, limp or non-weightbearing, indicative of an underlying condition such as transient synovitis or orthopedic infections (like septic arthritis or osteomyelitis).[2] In everyday clinical practice however, irritable hip is commonly used as a synonym for transient synovitis. It should not be confused with sciatica, a condition describing hip and lower back pain much more common to adults than transient synovitis but with similar signs and symptoms.
Transient synovitis usually affects children between three and ten years old (but it has been reported in a 3-month-old infant and in some adults[3]). It is the most common cause of sudden hip pain and limp in young children.[4][5] Boys are affected two to four times as often as girls.[5][6][7] The exact cause is unknown. A recent viral infection (most commonly an upper respiratory tract infection) or a trauma have been postulated as precipitating events, although these are reported only in 30% and 5% of cases, respectively.[7]
Transient synovitis is a diagnosis of exclusion.[4] The diagnosis can be made in the typical setting of pain or limp in a young child who is not generally unwell and has no recent trauma. There is a limited range of motion of the hip joint. Blood tests may show mild inflammation. An ultrasound scan of the hip joint can show a fluid collection (effusion). Treatment is with nonsteroidal anti-inflammatory drugs and limited weight-bearing. The condition usually clears by itself within seven to ten days,[5] but a small group of patients will continue to have symptoms for several weeks. The recurrence rate is 4–17%, most of which is in the first six months.[8]
## Contents
* 1 Symptoms and signs
* 1.1 Complications
* 2 Diagnosis
* 2.1 Differential diagnosis
* 3 Treatment
* 4 References
* 5 Further reading
* 6 External links
## Symptoms and signs[edit]
Transient synovitis causes pain in the hip, thigh, groin or knee on the affected side.[5] There may be a limp (or abnormal crawling in infants) with or without pain. In small infants, the presenting complaint can be unexplained crying (for example, when changing a diaper). The condition is nearly always limited to one side.[5] The pain and limp can range from mild to severe.
Some children may have a slightly raised temperature; high fever and general malaise point to other, more serious conditions. On clinical examination, the child typically holds the hip slightly bent, turned outwards and away from the middle line (flexion, external rotation and abduction).[7] Active and passive movements may be limited because of pain, especially abduction and internal rotation. The hip can be tender to palpation. The log roll test involves gently rotating the entire lower limb inwards and outwards with the patient on his back, to check when muscle guarding occurs. The unaffected hip and the knees, ankles, feet and spine are found to be normal.[8]
### Complications[edit]
In the past, there have been speculations about possible complications after transient synovitis. The current consensus however is that there is no proof of an increased risk of complications after transient synovitis.[9]
One such previously suspected complication was coxa magna, which is an overgrowth of the femoral head and broadening of the femoral neck, accompanied by changes in the acetabulum, which may lead to subluxation of the femur.[8][10] There was also some controversy about whether continuous high intra-articular pressure in transient synovitis could cause avascular necrosis of the femoral head (Legg-Calvé-Perthes disease), but further studies did not confirm any link between the two conditions.[11]
## Diagnosis[edit]
There are no set standards for the diagnosis of suspected transient synovitis, so the amount of investigations will depend on the need to exclude other, more serious diseases.
Inflammatory parameters in the blood may be slightly raised (these include erythrocyte sedimentation rate, C-reactive protein and white blood cell count), but raised inflammatory markers are strong predictors of other more serious conditions such as septic arthritis.[12][13]
X-ray imaging of the hip is most often unremarkable. Subtle radiographic signs include an accentuated pericapsular shadow, widening of the medial joint space, lateral displacement of the femoral epiphyses with surface flattening (Waldenström sign), prominent obturator shadow, diminution of soft tissue planes around the hip joint or slight demineralisation of the proximal femur. The main reason for radiographic examination is to exclude bony lesions such as occult fractures, slipped upper femoral epiphysis or bone tumours (such as osteoid osteoma). An anteroposterior and frog lateral (Lauenstein) view of the pelvis and both hips is advisable.[14]
An ultrasound scan of the hip can easily demonstrate fluid inside the joint capsule (Fabella sign), although this is not always present in transient synovitis.[7][15] However, it cannot reliably distinguish between septic arthritis and transient synovitis.[16][17] If septic arthritis needs to be ruled out, needle aspiration of the fluid can be performed under ultrasound guidance.[18] In transient synovitis, the joint fluid will be clear.[5] In septic arthritis, there will be pus in the joint, which can be sent for bacterial culture and antibiotic sensitivity testing.
More advanced imaging techniques can be used if the clinical picture is unclear; the exact role of different imaging modalities remains uncertain. Some studies have demonstrated findings on magnetic resonance imaging (MRI scan) that can differentiate between septic arthritis and transient synovitis (for example, signal intensity of adjacent bone marrow).[19][20][21] Skeletal scintigraphy can be entirely normal in transient synovitis, and scintigraphic findings do not distinguish transient synovitis from other joint conditions in children.[22] CT scanning does not appear helpful.
### Differential diagnosis[edit]
Pain in or around the hip and/or limp in children can be due to a large number of conditions. Septic arthritis (a bacterial infection of the joint) is the most important differential diagnosis, because it can quickly cause irreversible damage to the hip joint.[4] Fever, raised inflammatory markers on blood tests and severe symptoms (inability to bear weight, pronounced muscle guarding) all point to septic arthritis,[12][13] but a high index of suspicion remains necessary even if these are not present.[5] Osteomyelitis (infection of the bone tissue) can also cause pain and limp.
Bone fractures, such as a toddler's fracture (spiral fracture of the shin bone), can also cause pain and limp, but are uncommon around the hip joint. Soft tissue injuries can be evident when bruises are present. Muscle or ligament injuries can be contracted during heavy physical activity —however, it is important not to miss a slipped upper femoral epiphysis. Avascular necrosis of the femoral head (Legg-Calvé-Perthes disease) typically occurs in children aged 4–8, and is also more common in boys. There may be an effusion on ultrasound, similar to transient synovitis.[23]
Neurological conditions can also present with a limp. If developmental dysplasia of the hip is missed early in life, it can come to attention later in this way. Pain in the groin can also be caused by diseases of the organs in the abdomen (such as a psoas abscess) or by testicular disease. Rarely, there is an underlying rheumatic condition (juvenile idiopathic arthritis, Lyme arthritis, gonococcal arthritis, ...) or bone tumour.
## Treatment[edit]
Treatment consists of rest, non-weightbearing and painkillers when needed. A small study showed that the nonsteroidal anti-inflammatory drug ibuprofen could shorten the disease course (from 4.5 to 2 days) and provide pain control with minimal side effects (mainly gastrointestinal disturbances).[24] If fever occurs or the symptoms persist, other diagnoses need to be considered.[8]
## References[edit]
1. ^ Do TT (Feb 2000). "Transient synovitis as a cause of painful limps in children". Current Opinion in Pediatrics. 12 (1): 48–51. doi:10.1097/00008480-200002000-00010. PMID 10676774.
2. ^ Fischer SU, Beattie TF (Nov 1999). "The limping child: epidemiology, assessment and outcome". J Bone Joint Surg Br. 81 (6): 1029–34. doi:10.1302/0301-620X.81B6.9607. PMID 10615981.
3. ^ Quintos-Macasa AM, Serebro L, Menon Y (Feb 2006). "Transient synovitis of the hip in an adult". South Med J. 99 (2): 184–5. doi:10.1097/01.smj.0000199746.29009.4c. PMID 16509560. S2CID 26520520.
4. ^ a b c Hart JJ (Oct 1996). "Transient synovitis of the hip in children". Am Fam Physician. 54 (5): 1587–91, 1595–6. PMID 8857781.
5. ^ a b c d e f g Scott Moses, MD. "Transient hip tenosynovitis Archived 2007-09-16 at the Wayback Machine". Family practice notebook. Revision of August 9, 2007. Retrieved December 22, 2007.
6. ^ Vijlbrief AS, Bruijnzeels MA, van der Wouden JC, van Suijlekom-Smit LW (Oct 1992). "Incidence and management of transient synovitis of the hip: a study in Dutch general practice". The British Journal of General Practice. 42 (363): 426–8. PMC 1372234. PMID 1466922.
7. ^ a b c d Irritable hip. General Practice Notebook. Retrieved December 22, 2007.
8. ^ a b c d ped/1676 at eMedicine
9. ^ Mattick A, Turner A, Ferguson J, Beattie T, Sharp J (Sep 1999). "Seven year follow up of children presenting to the accident and emergency department with irritable hip". J Accid Emerg Med. 16 (5): 345–7. doi:10.1136/emj.16.5.345. PMC 1347055. PMID 10505915.
10. ^ Sharwood PF (Dec 1981). "The irritable hip syndrome in children. A long-term follow-up". Acta Orthop Scand. 52 (6): 633–8. doi:10.3109/17453678108992159. PMID 7331801.
11. ^ Kallio P, Ryöppy S, Kunnamo I (Nov 1986). "Transient synovitis and Perthes' disease. Is there an aetiological connection?". J Bone Joint Surg Br. 68 (5): 808–11. doi:10.1302/0301-620X.68B5.3782251. PMID 3782251.
12. ^ a b Caird MS, Flynn JM, Leung YL, Millman JE, D'Italia JG, Dormans JP (Jun 2006). "Factors distinguishing septic arthritis from transient synovitis of the hip in children. A prospective study". J Bone Joint Surg Am. 88 (6): 1251–7. doi:10.2106/JBJS.E.00216. PMID 16757758. S2CID 29137759.
13. ^ a b Kocher MS, Mandiga R, Zurakowski D, Barnewolt C, Kasser JR (Aug 2004). "Validation of a clinical prediction rule for the differentiation between septic arthritis and transient synovitis of the hip in children". J Bone Joint Surg Am. 86-A (8): 1629–35. doi:10.2106/00004623-200408000-00005. PMID 15292409. S2CID 13529642.
14. ^ Gough-Palmer A, McHugh K (Jun 2007). "Investigating hip pain in a well child". BMJ. 334 (7605): 1216–7. doi:10.1136/bmj.39188.515741.47. PMC 1892599. PMID 17556478.
15. ^ Nicola Wright, Vince Choudhery. Ultrasound is better than x-ray at detecting hip effusions in the limping child. BestBETs.org . Retrieved December 22, 2007
16. ^ Zamzam MM (Nov 2006). "The role of ultrasound in differentiating septic arthritis from transient synovitis of the hip in children". J Pediatr Orthop B. 15 (6): 418–22. doi:10.1097/01.bpb.0000228388.32184.7f. PMID 17001248. S2CID 27006647.
17. ^ Bienvenu-Perrard M, de Suremain N, Wicart P, et al. (Mar 2007). "[Benefit of hip ultrasound in management of the limping child]" [Benefit of hip ultrasound in management of the limping child]. J Radiol (in French). 88 (3 Pt 1): 377–83. doi:10.1016/S0221-0363(07)89834-9. PMID 17457269.
18. ^ Skinner J, Glancy S, Beattie TF, Hendry GM (Mar 2002). "Transient synovitis: is there a need to aspirate hip joint effusions?". Eur J Emerg Med. 9 (1): 15–8. doi:10.1097/00063110-200203000-00005. PMID 11989490. S2CID 29742427.
19. ^ Kwack KS, Cho JH, Lee JH, Cho JH, Oh KK, Kim SY (Aug 2007). "Septic arthritis versus transient synovitis of the hip: gadolinium-enhanced MRI finding of decreased perfusion at the femoral epiphysis". AJR Am J Roentgenol. 189 (2): 437–45. doi:10.2214/AJR.07.2080. PMID 17646472.
20. ^ Yang WJ, Im SA, Lim GY, et al. (Nov 2006). "MR imaging of transient synovitis: differentiation from septic arthritis". Pediatr Radiol. 36 (11): 1154–8. doi:10.1007/s00247-006-0289-9. PMID 17019590. S2CID 23475331.
21. ^ Lee SK, Suh KJ, Kim YW, et al. (May 1999). "Septic arthritis versus transient synovitis at MR imaging: preliminary assessment with signal intensity alterations in bone marrow". Radiology. 211 (2): 459–65. doi:10.1148/radiology.211.2.r99ma47459. PMID 10228529.
22. ^ Connolly LP, Treves ST (Jun 1998). "Assessing the limping child with skeletal scintigraphy". J Nucl Med. 39 (6): 1056–61. PMID 9627343.
23. ^ Legg-Calve-Perthes Disease at eMedicine
24. ^ Kermond S, Fink M, Graham K, Carlin JB, Barnett P (Sep 2002). "A randomized clinical trial: should the child with transient synovitis of the hip be treated with nonsteroidal anti-inflammatory drugs?". Annals of Emergency Medicine. 40 (3): 294–9. doi:10.1067/mem.2002.126171. PMID 12192353.
## Further reading[edit]
* Leet AI, Skaggs DL (Feb 2000). "Evaluation of the acutely limping child". Am Fam Physician. 61 (4): 1011–8. PMID 10706154.: An illustrated, free full-text review with emphasis on clinical examination of the acutely limping child.
## External links[edit]
Classification
D
* ICD-10: M67.3
* ICD-9-CM: 727.00
External resources
* MedlinePlus: 000981
* eMedicine: ped/1676 emerg/387
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Transient synovitis
|
c0149908
| 25,950 |
wikipedia
|
https://en.wikipedia.org/wiki/Transient_synovitis
| 2021-01-18T19:09:37 |
{"umls": ["C0149908"], "icd-9": ["727.09"], "icd-10": ["M67.3"], "wikidata": ["Q583195"]}
|
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. People with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. Many of these eye problems contribute to progressive vision loss in affected individuals. Occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Isolated aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Aniridia
|
c0003076
| 25,951 |
gard
|
https://rarediseases.info.nih.gov/diseases/5816/aniridia
| 2021-01-18T18:02:06 |
{"mesh": ["D015783"], "omim": ["106210"], "umls": ["C0003076"], "orphanet": ["77"], "synonyms": []}
|
A number sign (#) is used with this entry because severe congenital neutropenia-4 (SCN4) and Dursun syndrome are both caused by homozygous mutation in the G6PC3 gene (611045) on chromosome 17q21.
For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Clinical Features
Boztug et al. (2009) reported an extended consanguineous kindred from Aramean, Turkey, in which 4 children had a syndrome comprising severe congenital neutropenia, cardiac abnormalities, and a prominent superficial venous pattern. Three presented with neonatal sepsis, the fourth with pneumonia and sepsis, consistent with increased susceptibility to bacterial infections. Cardiac defects included atrial septal defect, cor triatriatum, and mitral insufficiency. Three patients also had hepatosplenomegaly, and 2 had intermittent thrombocytopenia. Eight additional unrelated patients were later ascertained, all showing similar features. Four of 6 males had cryptorchidism, and 1 child each had urachal fistula, microcephaly, inner-ear hearing loss, and cleft palate.
Arostegui et al. (2009) reported a 22-year-old Moroccan man with SCN4 who presented at age 11 years. He had recurrent bacterial infections since childhood, resulting in bronchiectasis and loss of teeth. He showed poor overall growth and educational delay, and laboratory studies showed decreased absolute neutrophil count and anemia. Bone marrow biopsy showed a paucity of granulocytes beyond the promyelocyte stage. Other features included cryptorchidism, atrial septal defect, and prominent subcutaneous venous circulation. There was no family history of a similar disorder. He showed good response to iron supplementation and recombinant G-CSF. During follow-up, he had intermittent and unexplained thrombocytopenia. Genetic analysis identified a homozygous truncating mutation in the G6PC3 gene.
McDermott et al. (2010) reported 2 sibs with SCN4 and recurrent infections beginning in infancy. Both had multiple additional clinical abnormalities, including microcephaly, prominent superficial veins, mild sensorineural hearing loss, poor growth, iron deficiency anemia, giant platelets, muscle weakness, and joint laxity. The sister had an atrial septal defect, and the brother had mitral valve abnormalities, cryptorchidism, and asthma. Treatment with G-CSF resulted in clinical improvement, and both were in the appropriate school levels at ages 13 and 9 years, respectively.
Banka et al. (2011) reported a large consanguineous kindred of Arab-Muslim descent in which 4 individuals had SCN4 confirmed by genetic analysis (611045.0001). Three of the patients, 2 females and 1 male, were 25 years of age or older, allowing for delineation of the phenotype in adults. All adults had recurrent infections due to neutropenia and characteristic superficial venous pattern with varicose veins, resulting in a venous stasis ulcer in 1 patient. These 3 patients also had mild learning disability, which was also present in another family member without SCN4. Other features included poor growth and failure to thrive in infancy and poor development of secondary sexual characteristics. The male patient had unilateral renal agenesis and hydronephrosis, and a female patient had patent ductus arteriosus and atrial septal defect. She died of sepsis at age 25. One female had mild kyphosis, tapering fingers, and clinodactyly of the fourth and fifth fingers, and the male had broad thumbs. Laboratory studies showed low white blood cell count and anemia in all, increased serum TSH in 2, and decreased HDL with increased amylase in 1. The fourth patient, a 2-year-old boy, had pulmonary valve stenosis, patent ductus arteriosus, atrial septal defect, and primary pulmonary hypertension. He had increased gamma-glutamyltransferase and calcifications of the liver at age 7 days, and later developed choledocholithiasis. He showed failure to thrive and developmental delay. Mild dysmorphic features included plagiocephaly, sparse scalp hair, midface hypoplasia, tented mouth, pectus carinatum, and loose skin on the palms and soles. Banka et al. (2011) concluded that the phenotype of SCN4 may include additional features, and that patients should be monitored for poor growth, endocrine dysfunction, dyslipidemia, and liver and kidney function.
### Dursun Syndrome
Dursun et al. (2009) described a Turkish brother and sister, born of nonconsanguineous parents, with pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, hematologic abnormalities including intermittent neutropenia, lymphopenia, monocytosis, and anemia, and marked thymic involution. Both sibs also had pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband had bilateral inguinal hernias and undescended testes. In a follow-up of the patients reported by Dursun et al. (2009), Banka et al. (2010) noted that both children died of severe respiratory distress due to primary pulmonary hypertension at age 18 months. Banka et al. (2010) stated that the report of these children expanded the phenotype of SCN4, indicating that monocytosis, lymphopenia, and hypoplasia of the erythroid cell line resulting in anemia may also be features of the disorder.
Mapping
By linkage analysis of 2 consanguineous Turkish families with syndromic congenital neutropenia, Boztug et al. (2009) found linkage to a region on chromosome 17q21 (maximum 2-pedigree multipoint lod score of 5.74 at markers D17S932, D17S950, and D17S806).
Molecular Genetics
In affected members of a large consanguineous Turkish family and an unrelated Turkish child with SCN4, Boztug et al. (2009) identified a homozygous mutation in the G6PC3 gene (611045.0001). In vitro functional expression assays showed that patient neutrophils carrying the mutation had increased susceptibility to apoptosis, although the oxidative burst was normal. Eight additional mutations (see, e.g., 611045.0002-611045.0005, 611045.0007) were identified in 7 other patients with the disorder.
In 2 sibs with SCN4 and multiple clinical abnormalities, McDermott et al. (2010) identified a homozygous mutation in the G6PC3 gene (611045.0007).
### Dursun Syndrome
In 1 of the Turkish children with Dursun syndrome (Dursun et al., 2009), Banka et al. (2010) identified a homozygous mutation in the G6PC3 gene (M116V; 611045.0006). Each unaffected parent was heterozygous for the mutation, which was not found in 176 control chromosomes. The findings suggested that Dursun syndrome can be considered a subset of SCN4. Banka et al. (2010) noted that dysfunction of G6PC3 can result in defects in glucose metabolism, which may be associated with primary pulmonary hypertension.
Pathogenesis
In bone marrow biopsies of 2 sibs with SCN4 due to homozygous G260R (611045.0007) mutation, McDermott et al. (2010) found the presence of mature neutrophils despite markedly decreased neutrophils in the peripheral blood. The bone marrow also showed a predominance of atypical mononuclear megakaryocytes, myeloid hyperplasia, and vacuolization of the myeloid precursors. These features were consistent with myelokathexis and cytokine activation. Peripheral blood neutrophils and NK cells had increased expression of CXCR4 (162643), and G-CSF treatment resulted in a dose-dependent decrease of CXCR4. McDermott et al. (2010) concluded that the neutropenia in their patients resulted from a combination of decreased release of mature neutrophils from the bone marrow, increased apoptosis of peripheral blood neutrophils, and decreased superoxide production.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive \- Poor growth HEAD & NECK Head \- Microcephaly (reported in 2 patients) Ears \- Hearing loss (reported in 2 patients) Nose \- Broad nasal bridge Mouth \- Cleft palate (reported in 1 patient) \- High-arched palate CARDIOVASCULAR Heart \- Atrial septal defect, secundum type \- Mitral insufficiency \- Pulmonary valve stenosis \- Cor triatriatum Vascular \- Patent ductus arteriosus \- Pulmonary arterial hypertension (in 3 patients) RESPIRATORY \- Recurrent respiratory infections \- Respiratory insufficiency CHEST Ribs Sternum Clavicles & Scapulae \- Pectus carinatum ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism Kidneys \- Renal agenesis, unilateral (1 patient) \- Hydronephrosis (1 patient) SKELETAL Hands \- Proximal localization of thumb \- Broad thumbs \- Clinodactyly \- Simian crease SKIN, NAILS, & HAIR Skin \- Prominent superficial venous pattern \- Venous angiectasia \- Varicose veins \- Venous stasis ulcer NEUROLOGIC Central Nervous System \- Delayed development (1 family) \- Learning disabilities (1 family) ENDOCRINE FEATURES \- Poor secondary sexual development (1 family) \- Delayed or incomplete puberty (1 family) \- Increased serum TSH (2 patients) HEMATOLOGY \- Thrombocytopenia, intermittent \- Leukopenia \- Neutropenia \- Anemia \- Lymphopenia \- Monocytosis \- Thrombocytopenia \- Dysplastic changes in all cell lineages in the bone marrow \- Erythroid hypoplasia in the bone marrow \- Vacuolization in myeloid cell lines in the bone marrow IMMUNOLOGY \- Neutropenia \- Increased susceptibility to bacterial infections \- Few mature neutrophils in the bone marrow \- Thymus hypoplasia MISCELLANEOUS \- Sepsis, neonatal \- Variable phenotype MOLECULAR BASIS \- Caused by mutation in the glucose-6-phosphatase, catalytic subunit 3 gene (G6PC3, 611045.0001 ) ▲ 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
|
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
|
c2751630
| 25,952 |
omim
|
https://www.omim.org/entry/612541
| 2019-09-22T16:01:16 |
{"mesh": ["C567804"], "omim": ["612541"], "orphanet": ["178503", "331176"], "genereviews": ["NBK285321"]}
|
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
## Epidemiology
Prevalence is unknown but less than 20 affected families have been described in the literature so far.
## Clinical description
Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies, metabolic abnormalities, thyroid hemiagenesis, collagenoma, diabetes mellitus, and thyroid hemiagenesis.
## Etiology
Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype (ovarian failure and progressive dilated cardiomyopathy) but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).
## Genetic counseling
Transmission appears to be autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
c0796031
| 25,953 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2229
| 2021-01-23T18:50:02 |
{"gard": ["3373"], "mesh": ["C535703"], "omim": ["212112"], "umls": ["C0796031", "C0796083"], "icd-10": ["I42.0"], "synonyms": ["Cardiogenital syndrome", "Malouf syndrome", "Najjar syndrome"]}
|
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 14 (MC1DN14) is caused by homozygous mutation in the NDUFA11 gene (612638) on chromosome 19p13.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Features
Berger et al. (2008) reported 3 consanguineous families of Israeli Bedouin origin in which 6 offspring had severe mitochondrial complex I deficiency. Three of the affected children presented with a fatal infantile metabolic acidosis with death between ages 6 and 40 days. Affected children in 1 family survived beyond infancy but developed severe encephalocardiomyopathy with brain atrophy, no motor development, and hypertrophic cardiomyopathy.
Molecular Genetics
Berger et al. (2008) reported 3 consanguineous families of Israeli Bedouin origin in which 6 offspring had severe mitochondrial complex I deficiency associated with a homozygous splice site mutation in the NDUFA11 gene (612638.0001). The parents of each family did not recall any relationship between the families, but haplotype analysis indicated a founder effect. RT-PCR analysis indicated that the mutation was a leaky mutation, with a 2:1 ratio of wildtype to normal transcript in patient fibroblasts. Berger et al. (2008) hypothesized a modifier gene effect or differential transcript expression in various tissues to explain the different clinical presentations observed in these families.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, acquired Eyes \- Poor visual fixation \- Nystagmus \- Optic atrophy CARDIOVASCULAR Heart \- Hypertrophic cardiomyopathy (in some patients) RESPIRATORY \- Apnea MUSCLE, SOFT TISSUES \- Myopathy \- Hypotonia NEUROLOGIC Central Nervous System \- Encephalopathy \- Poor or absent global development \- Lack of purposeful movements \- Inability to lift head \- Seizures (in some patients) \- Brain atrophy METABOLIC FEATURES \- Lactic acidosis LABORATORY ABNORMALITIES \- Increased serum lactate \- Mitochondrial respiratory complex I deficiency in various tissues MISCELLANEOUS \- Onset in early infancy \- Early infantile death may occur MOLECULAR BASIS \- Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A11 gene (NDUFA11, 612638.0001 ) ▲ 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
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
|
c2936907
| 25,954 |
omim
|
https://www.omim.org/entry/618236
| 2019-09-22T15:42:58 |
{"mesh": ["C537475"], "omim": ["618236"], "orphanet": ["2609"]}
|
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-3 (MCOP3) is caused by compound heterozygous mutation in the RAX gene (601881) on chromosome 18q21.
For a phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
Nomenclature
The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (Francois, 1961). The diagnosis can only be made histologically (Reddy et al., 2003; Morini et al., 2005; Smartt et al., 2005), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.'
Clinical Features
Voronina et al. (2004) reported a 12-year-old boy, born to nonconsanguineous parents, who had right clinical anophthalmia and ankyloblepharon and left microphthalmia with sclerocornea. Ocular ultrasound showed a very small cystic remnant on the right and persistent fetal vasculature and total retinal detachment on the left. An EEG at 7 years of age showed abnormal slowing of background activity consistent with underlying cortical activity, and the patient was diagnosed as autistic. MRI of the brain was normal.
Molecular Genetics
Voronina et al. (2004) analyzed the RAX gene in 75 individuals with clinical anophthalmia and/or microphthalmia and identified compound heterozygosity for a nonsense mutation (601881.0001) and a missense mutation (601881.0002) in a 12-year-old boy with right clinical anophthalmia and left microphthalmia who also had a diagnosis of autism.
In a 2-year-old Algerian girl with bilateral clinical anophthalmia, the third child born to nonconsanguineous parents, Lequeux et al. (2008) identified compound heterozygosity for a deletion and a nonsense mutation in the RAX gene (601881.0003 and 601881.0004, respectively). The girl had no other dysmorphic features or malformations and normal psychomotor development. MRI of the brain showed bilateral absence of eyes with fibrous tissue in the orbits and hypoplastic optic nerves and chiasma; the hypothalamus and pituitary gland were normal.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Anophthalmia, clinical \- Microphthalmia \- Ankyloblepharon \- Sclerocornea MOLECULAR BASIS \- Caused by mutation in the retina and anterior neural fold homeobox gene (RAX, 601881.0001 ) ▲ 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
|
MICROPHTHALMIA, ISOLATED 3
|
c1970237
| 25,955 |
omim
|
https://www.omim.org/entry/611038
| 2019-09-22T16:03:41 |
{"doid": ["0060842"], "mesh": ["C567025"], "omim": ["611038", "251600"], "orphanet": ["2542"], "synonyms": ["Isolated anophthalmia-microphthalmia syndrome", "MAC spectrum", "Microphthalmia-anophthalmia-coloboma spectrum"], "genereviews": ["NBK1378"]}
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A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ataxia-photosensitivity-short stature syndrome
|
None
| 25,956 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1184
| 2021-01-23T18:32:10 |
{"gard": ["2287"], "synonyms": ["Fenton-Wilkinson-Toselano syndrome"]}
|
Hematopoietic stem cells (HSCs) are primitive and generally quiescent cells that are able to support multilineage hematopoiesis. The large numbers of HSCs and redundancy in cytokine function and signal transduction mechanisms assure a stable production of blood cells throughout life. Females are natural mosaics for X chromosome-linked genes. Since X-chromosome inactivation occurs randomly, the ratio of parental phenotypes among blood cells is approximately 1 to 1. Approximately 50% of blood cells from neonates and females less than 40 years of age express maternal X chromosome genes, and 50% express paternal X chromosome genes. However, excessive skewing, defined as parental phenotype ratios greater than 3 to 1, occurs in 38 to 56% of normal females over 60 years of age (Busque et al., 1996; Gale et al., 1997; Champion et al., 1997). This has been attributed to the depletion of HSCs with aging (and the support of blood cell production by the few remaining clones) or to myelodysplasia (the dominance of a neoplastic clone). Each possibility has major implications for chemotherapy and for transplantation in elderly patients. Another possibility is hemizygous selection (a competitive advantage of all cells that express 1 parental phenotype), which is difficult to exclude in studies in an outbred human population. Abkowitz et al. (1998) found similar findings of excess skewing in longitudinal studies of female Safari cats and demonstrated that the excessive skewing has no pathologic consequence and results from hemizygous selection. Safari cats are the F1 offspring of Geoffroy (G) and domestic (d) cat parents. Abkowitz et al. (1998) showed a competitive advantage for all HSCs with a specific X chromosome phenotype and thus demonstrated that an X chromosome gene (or genes) regulates HSC replication, differentiation, and/or survival. Because of X chromosome inactivation early in embryogenesis, each somatic cell in female Safari cats, including each stem cell, expresses a d or G form of glucose-6-phosphate dehydrogenase (G6PD; 305900) but not both. Each progenitor and differentiated cell expresses the G6PD phenotype of the HSC from which it derived.
There are many examples of hemizygous selection of differentiating blood cells in the human: in platelets and T cells of women heterozygous for the Wiskott-Aldrich syndrome (301000), in B cells of women heterozygous for agammaglobulinemia (300755), and so on. The identity of the gene or genes responsible for the selective growth advantage of HSCs with the G type of G6PD is unknown. Because Geoffroy cats (of South American origin) and domestic cats (of Eurasian origin) have evolved independently for 12 million years, it is likely that F1 Safari cats will be heterozygous at many genetic loci. Candidate genes include the cell cycle relevant determinants (300023) on Xq28 and the inhibitor of apoptosis gene (300079) on Xq25. Another candidate is the PIGA gene (311770) on Xp22.1, which is responsible for paroxysmal nocturnal hemoglobinuria (300818). Luzzatto et al. (1979) found a suggestion of hemizygous expansion of HSCs in studying heterozygotes for the Ilesha variant of G6PD in a Nigerian family with no coexistent X-chromosome-linked clinical disorder. As only red cells and granulocytes were studied, however, their observations were also compatible with a preferential (nonrandom) inactivation of the X chromosome, rather than selection with aging. Recombination between the loci for G6PD and that for hemizygous selection occurred in 3 of 5 individuals in this family.
Henckaerts et al. (2002) stated that in as many as 50% of elderly women, progressive skewing of X inactivation occurs in the hematopoietic system (Champion et al., 1997; Christensen et al., 2000). Similar data were obtained in cats, in which skewed X-chromosome inactivation in all hematopoietic lineages also occurred after bone marrow transplantation (Abkowitz et al., 1998) and after repeated chemotherapy with busulfan (Abkowitz et al. (1988, 1993)). Human female monozygotic twins that show skewed X inactivation in the hematopoietic system with aging tend to inactivate the X chromosome from the same parent (Christensen et al., 2000; Vickers et al., 2001). Thus, alleles on the X chromosome confer a growth, survival, or reconstitution advantage to stem cells. Progressive skewing of X inactivation in the hematopoietic system is likely to be caused, to a large extent, by hemizygous selection, i.e., a selective advantage of one X chromosome over another, whereas stochastic mechanisms are less 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
|
HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF
|
None
| 25,957 |
omim
|
https://www.omim.org/entry/300129
| 2019-09-22T16:20:50 |
{"omim": ["300129"]}
|
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
## Epidemiology
FMF is primarily found in the south-eastern Mediterranean area. Populations having a high prevalence (1/200-1/1000) of the disease are non-Ashkenazi Jews, Turks, Armenians and Arabs. It is not considered rare in Italy, Greece or Spain.
## Clinical description
Disease onset usually occurs before the age of 30 with an earlier onset corresponding to a more severe phenotype. FMF can be divided into 2 types: FMF type 1 and 2. Type 1 is characterized by attacks (as often as once a week or every few years) of fever and serositis lasting 1-4 days and resolving spontaneously. Stress, exposure to cold, fat-rich meals, infections, certain drugs and menstrual cycles are possible attack triggers. Mild symptoms (myalgia, headache, nausea, dyspnea, arthralgia, low back pain, asthenia and anxiety) precede attacks and last about 17 hours. Attacks manifest as fever (38°C-40°C lasting 12-72 hours and not responding to antibiotics), diffuse or localized abdominal pain (often mimicking acute abdomen), constipation (diarrhea in children), arthralgias (in large joints), arthritis (in upper/lower limb/knee joints) and chest pain caused by pleuritis and/or pericarditis (see this term). In 7-40% of patients cutaneous involvement is also present. Amyloidosis type AA (see this term) can be a serious long term complication. FMF type 2 describes a phenotype where amyloidosis occurs as the first and only manifestation of the disease.
## Etiology
To date, 218 mutations in the MEFV gene on chromosome 16 encoding the pyrin/marenostrin protein are responsible for the phenotypic variance (M694V homozygous mutations are associated with increased severity) seen in the disease. As not all patients have a mutation in the MEFV gene, other factors may be involved.
## Diagnostic methods
The Tel-Hashomer criteria states that 2 major criteria (fever and serositis, amyloidosis AA, effectiveness of colchicine) or 1 major and 2 minor criteria (recurrent attacks of fever, erysipela-like erythema, relatives affected by FMF) must be present for diagnosis. Genetic testing only has a 70-80 % positive predictive value.
## Differential diagnosis
Differential diagnoses include hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), TNF receptor-associated periodic syndrome and periodic fever (TRAPS), Marshall's syndrome with periodic fever, transthyretin-related amyloidosis and Behçet's disease (see these terms).
## Antenatal diagnosis
Antenatal testing is possible, but not advised.
## Genetic counseling
FMF follows an autosomal recessive pattern of inheritance. Genetic counseling for parents with an MEFV mutation can inform them of their risk of passing it on to their children.
## Management and treatment
Colchicine (oral or by I.V.) is the drug used to treat FMF. It reduces or eliminates FMF attacks and prevents the occurrence of amyloidosis type AA (see this term). Dosage ranges up to 0.03mg/kg/body weight/daily, or to a maximum of 3mg/daily, and must be taken regularly on a life-long basis. During an attack a nonsteroidal anti-inflammatory drug can be administered.Patients intolerant to colchicine have no alternative of matching efficacy, but Anakinra, interferon-alpha and selective serotonin reuptake inhibitors (SSRIs) have shown encouraging results in some patients. Annual physical examinations along with regulary monitoring of serum amyloid A protein (SAA) is recommended to prevent amyloidosis; colchicine can enhance B12 malabsorption and in rare cases can causes alopecia (see this term) and bone marrow suppression. Macrolides, diltiazem, grapefruit and cyclosporine should not be taken with colchicine as fatal toxicity can occur. Dialysis and organ transplantation might be necessary for those with renal amyloidosis.
## Prognosis
Although there is no cure for FMF, colchicine treatment improves patient quality of life. Untreated FMF patients and those with renal amyloidosis have a less favorable prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Familial Mediterranean fever
|
c0031069
| 25,958 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=342
| 2021-01-23T19:01:45 |
{"gard": ["6421"], "mesh": ["D010505"], "omim": ["134610", "249100"], "umls": ["C0031069", "C0585274"], "icd-10": ["E85.0"], "synonyms": ["Benign paroxysmal peritonitis", "Benign recurrent polyserositis", "FMF", "Familial paroxysmal polyserositis", "Periodic disease"]}
|
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.
## Clinical description
Epidermal nevi are developmental disorders characterized by hyperplasia of epidermal structures in a circumscribed area of the skin. Most are present at birth, occur sporadically and affect both sexes. All well-defined ENS are lethal gene syndromes, except nevus comedonicus syndrome. About 50% of the patients have neurological abnormalities that include mental retardation and epilepsy, spastic paresis, cerebral vascular malformations, cortical atrophy, lateral ventricle enlargement. About one third of the patients may have ocular abnormalities such as colobomas of the eyelid, iris and retina, conjuctival lipodermoids and choristomas, cortical blindness, micro-, macro- or anophthalmia, corneal opacities and cataracts. Skeletal abnormalities and many other non-cutaneous abnormalities may be present.
## Management and treatment
No ideal medical therapy for the cutaneous lesions of ENS exists. The skin lesions may be amenable to surgery. The inflammatory linear verrucous epidermal nevus (ILVEN) sometimes responds to Erbium-YAG laser or vitamin D analogues. Salicylic acid, topical and systemic retinoids, emollients, shave dermabrasion and cryotherapy have been tried. The concomitant skeletal and ocular defects can be surgically repaired. Epilepsy should be treated appropriately.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Epidermal nevus syndrome
|
c0334082
| 25,959 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35125
| 2021-01-23T18:44:09 |
{"mesh": ["C580062", "D054000", "C536114"], "umls": ["C0334082"], "icd-10": ["Q85.8"], "synonyms": ["Epidermal hamartoma syndrome"]}
|
Ankyloblepharon
SpecialtyOphthalmology
ComplicationsAmblyopia (in Congenital Ankyloblepharon)
Usual onsetCongenital or acquired
TypesComplete, Partial and interrupted
Differential diagnosisSymblepharon
TreatmentSurgery
Ankyloblepharon is defined as the adhesion of the edges of the upper eyelid with the lower eyelid. Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, but the eyelid margins are normal. Another condition similar to Ankyloblepharon is Symblepharon where palpebral conjunctiva is attached to bulbar conjunctiva. Recognition of ankyloblepharon necessitates systemic examination to detect associated abnormalities such as genitourinary, cardiac, and syndactyly.[1]
## Contents
* 1 Presentation
* 1.1 Complication
* 2 Etiology
* 2.1 Congenital ankyloblepharon
* 2.1.1 Systemic associations
* 2.2 Acquired ankyloblepharon
* 3 Treatment
* 4 History
* 5 Etymology
* 6 See also
* 7 References
## Presentation[edit]
### Complication[edit]
Main Complication of congenital ankyloblepharon is amblyopia. Timely separation of the eyelids is very important to avoid the development of occlusion amblyopia.[2]
## Etiology[edit]
Ankyloblepharon may be congenital or acquired. The most common type is congenital.[3]
Clinically Ankyloblepharon may be complete, partial or interrupted. Complete ankyloblepharon is when the eyelids are fused throughout the lid margins. In the partial form, they are joined at one or more points. The interrupted form is also known as ankyloblepharon filiforme adnatum (AFA).[3]
### Congenital ankyloblepharon[edit]
During fetal development, eyelid margins remain fused until the fifth gestational month, and may not be completely separated until the seventh month of gestation.[4] Congenital ankyloblepharon occurs when the lid margins fail to separate at birth. The exact etiology of this condition is unknown. The currently accepted theory is that this condition is due to temporary epithelial arrest and rapid mesenchymal proliferation, allowing union of eyelids at abnormal positions.[5]
#### Systemic associations[edit]
Congenital ankyloblepharon is seen in association with:
* Hay-Wells syndrome: Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC) syndrome also known as Hay-Wells syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft palate and/or cleft lip.[6]
* Curly Hair-Ankyloblepharon-Nail Disease (CHAND) syndrome: it is a clinical variant of AEC syndrome. It is also known as Baughman syndrome.[6]
* Trisomy 18 (Edwards syndrome): AFA may be seen in association with Trisomy 18.[7]
* Popliteal pterygium syndrome (PPS): Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, first described by Trelat in 1869. The clinical features of the syndrome are highly variable and show different combinations of anomalies like cleft palate, cleft lip, lower lip pits or sinuses, popliteal webbing, syndactyly, genitourinary anomalies, nail anomalies, syngnathia, ankyloblepharon, talipes, and digital reduction defects.[8]
### Acquired ankyloblepharon[edit]
Acquired ankyloblepharon may occur due to trauma or inflammatory conditions. It may be associated with symblepharon also. The following conditions cause ankyloblepharon:[3]
* Chemical burns, thermal burns or trauma to the eyes
* Cicatrising diseases such as Stevens–Johnson syndrome or cicatricial ocular pemphigoid
* Inflammatory diseases such as herpes simplex infection or ulcerative blepharitis
* Trachoma [9]
* Cicatricial conjunctivitis [10]
* Mucous membrane pemphigoid: Ocular form of mucous membrane pemphigoid may cause ankyloblepharon (4th stage of foster grading system). [11]
## Treatment[edit]
Lids should be separated by excision of adhesions between the lid margins and kept apart during the healing process. When adhesions extend to the angles, epithelial grafts should be given to prevent recurrences.[12]
## History[edit]
Ankyloblepharon was first described by von Anmmon in 1841.[13] Ankyloblepharon filiforme adnatum (AFA), the interrupted form of Ankyloblepharon, was first described by Von Hasner in 1881.[3]
## Etymology[edit]
The word Ankyloblepharon was derived from Greek origin words ankylos (ἀγκύλος) meaning bent, crooked, or closed and blepharon (βλέφαρον) meaning eyelid.[14]
## See also[edit]
* Symblepharon
* Blepharophimosis
## References[edit]
1. ^ Scott R. Lambert, Christopher J. Lyons. "Management of lid conditions". Taylor and Hoyt's Pediatric Ophthalmology and Strabismus (5 ed.). Elsevier. p. 176.
2. ^ "Ankyloblepharon Filiforme Adnatum: Report of Two Cases". Cite journal requires `|journal=` (help)
3. ^ a b c d "Ankyloblepharon". National Health Portal, India.
4. ^ Sunila Jain, Antony J Atkinson, Bryan Hopkisson. "Ankyloblepharon filiforme adnatum". British journal of ophthaalmology.CS1 maint: multiple names: authors list (link)
5. ^ Sonal B Dudhia, Bhavin B Dudhia, Jigna S Shah. "Ankyloblepharon". American Academy of Ophthalmology.CS1 maint: multiple names: authors list (link)
6. ^ a b Sabin Sahu. "Hay-Wells syndrome: Report of a rare disorder with dental management". Journal of Indian Academy of Oral Medicine and Radiology. Cite journal requires `|journal=` (help)
7. ^ D I Clark and A Patterson (1985). "Ankyloblepharon filiforme adnatum in trisomy 18 (Edwards's syndrome)". British Journal of Ophthalmology. 69 (6): 471–473. doi:10.1136/bjo.69.6.471. PMC 1040633. PMID 4005216.
8. ^ Muhammad Qasim and Mahmood Shaukat (2012). "Popliteal Pterygium Syndrome: A Rare Entity". Apsp Journal of Case Reports. 3 (1): 5. PMC 3418038. PMID 22953299.
9. ^ AK Khurana. "Diseases of conjunctiva". Comprehensive Ophthalmology (6 ed.). Jaypee. p. 70.
10. ^ AK Khurana. "Diseases of conjunctiva". Comprehensive Ophthalmology (6 ed.). Jaypee. p. 85.
11. ^ Schonberg, Stacy; Stokkermans, Thomas J. (2020). "Ocular Pemphigoid". StatPearls. StatPearls Publishing. PMID 30252356.
12. ^ AK Khurana. "Disorders of the eyelid". Comprehensive Ophthalmology (6 ed.). Jaypee. p. 378.
13. ^ "Congenital eyelid anomalies". Albert & Jakobiec's principles and practice of ophthalmology (3rd ed.). pp. 3219–3220. ISBN 9781416000167.
14. ^ "ankyloblepharon - Wiktionary". en.wiktionary.org.
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
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Eyelash
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Lacrimal apparatus
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Orbit
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Globe
Fibrous tunic
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* Keratoglobus
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* sicca
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Other
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Pathways
Optic nerve
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Strabismus
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palsies
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Other strabismus
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Refraction
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Other
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Infections
* Trachoma
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Ankyloblepharon
|
c0339182
| 25,960 |
wikipedia
|
https://en.wikipedia.org/wiki/Ankyloblepharon
| 2021-01-18T18:36:48 |
{"wikidata": ["Q96372168"]}
|
Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Unna-Thost palmoplantar keratoderma
|
c0022584
| 25,961 |
gard
|
https://rarediseases.info.nih.gov/diseases/5186/unna-thost-palmoplantar-keratoderma
| 2021-01-18T17:57:13 |
{"mesh": ["D015776"], "omim": ["600962"], "umls": ["C0022584"], "orphanet": ["496"], "synonyms": ["Diffuse nonepidermolytic palmoplantar keratoderma", "Diffuse NEPPK", "Thost-Unna disease", "PPK diffusa circumscripta", "Thost-Unna palmoplantar keratoderma"]}
|
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Intellectual disability-epilepsy-extrapyramidal syndrome
|
c4310683
| 25,962 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=468620
| 2021-01-23T17:41:32 |
{"omim": ["617171"]}
|
A number sign (#) is used with this entry because spondyloperipheral dysplasia is caused by heterozygous mutation in the alpha-1 type II collagen gene (COL2A1; 120140) on chromosome 12q13.
Clinical Features
Kelly et al. (1977) described a father and 2 children (son and daughter) with an identical skeletal dysplasia of unusual type. It fell generally in the category of spondyloepiphyseal dysplasias. Platyspondyly and severe hip changes were present. The hands and feet were very short as in peripheral dysostosis. The ulna was very short distally, so that it showed deficiency at the wrist. Some of the metatarsals were particularly short. The father was 144 cm tall; the 31-year-old daughter was 142 cm tall; and the 30-year-old son was 154 cm tall. The pedigree was equally consistent with autosomal dominant or autosomal recessive inheritance because the affected father was married to his first cousin and came himself from a consanguineous mating. The families reported by Sybert et al. (1979) and by Vanek (1983) have some similarities; in these families, inheritance seems to have been autosomal dominant. The single case reported by Goldblatt and Behari (1987) also has some similarities. The patient was 108 cm tall at the age of 20, with an arm span of 125.5 cm; the forearms showed mild bilateral bowing. The shortening of the bones of the hands and feet was possibly more striking in the patients reported by Kelly et al. (1977).
Sorge et al. (1995) described the disorder in a mother and 3 of her children, 2 daughters and a son. In addition to platyspondyly with endplate indentations and brachydactyly, the proband had a characteristic, 'pugilistic' face, sensorineural deafness, and mental retardation.
Zankl et al. (2004) reported 2 patients with findings similar to those described by Zabel et al. (1996): clubfeet, midface hypoplasia, early-onset high grade myopia, platyspondyly, epiphyseal dysplasia, and brachydactyly E-like changes developing in childhood.
Molecular Genetics
Zabel et al. (1996) described a 5-bp duplication in exon 51 of the COL2A1 gene (120140.0030) resulting in a frameshift in a patient with what they concluded was the same disorder as that reported by Kelly et al. (1977), Vanek (1983), Sybert et al. (1979), and Sorge et al. (1995).
In 2 patients with findings similar to those described by Zabel et al. (1996), Zankl et al. (2004) identified heterozygous truncating mutations in the COL2A1 gene (120140.0041 and 120140.0042).
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Face \- 'Pugilistic facies' \- Midface hypoplasia Ears \- Hearing loss, sensorineural CHEST External Features \- Pectus carinatum \- Barrel-shaped chest SKELETAL \- Spondyloepiphyseal dysplasia Spine \- Platyspondyly, mild \- Biconcave disc (fish-mouth vertebrae) \- Kyphosis Pelvis \- Short ilia \- Horizontal acetabulae \- Flattened capital femoral epiphyses \- Acetabular spurs (infancy) Limbs \- Short ulna \- Absent styloid processes \- Limited elbow extension Hands \- Short fingers \- Broad hands \- Very short distal phalanges (2nd, 3rd, 4th, 5th) \- Short metacarpals (2nd, 3rd, 4th, 5th) \- Cone-shaped epiphyses \- Short, broad thumbs \- Brachydactyly E-like changes \- Short proximal and middle phalanges Feet \- Short feet \- Short phalanges \- Short metatarsals (4th) MOLECULAR BASIS \- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0030 ) ▲ 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
|
SPONDYLOPERIPHERAL DYSPLASIA
|
c0796173
| 25,963 |
omim
|
https://www.omim.org/entry/271700
| 2019-09-22T16:22:01 |
{"mesh": ["C535799"], "omim": ["271700"], "orphanet": ["1856"], "synonyms": ["Alternative titles", "SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA"], "genereviews": ["NBK540447"]}
|
A number sign (#) is used with this entry because of evidence that familial atrial fibrillation-4 (ATFB4) is caused by heterozygous mutation in the KCNE2 gene (603796) on chromosome 21q22.
Description
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.
Molecular Genetics
In a study of 28 unrelated Han Chinese families with atrial fibrillation, Yang et al. (2004) found an arginine-to-cysteine change at codon 27 (R27C; 603796.0004) of KCNE2 in 2 probands. The mutation was present in all affected members in the 2 kindreds and was absent in 462 healthy unrelated Chinese subjects. Similar to KCNQ1 S140G (607542.0032), the KCNE2 R27C mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
ATRIAL FIBRILLATION, FAMILIAL, 4
|
c1862394
| 25,964 |
omim
|
https://www.omim.org/entry/611493
| 2019-09-22T16:03:22 |
{"doid": ["0050650"], "mesh": ["C566244"], "omim": ["611493", "608583"], "orphanet": ["334"], "synonyms": []}
|
B-cell lymphoma refers to types of non-Hodgkin lymphoma that are characterized by abnormalities of the "B-cells" (a type of white blood cell that makes antibodies to help fight infection). The condition may grow and spread slowly with few symptoms (also known as indolent lymphoma) or may be very aggressive with severe symptoms. When present, signs and symptoms may include swollen lymph nodes in the neck, armpit, or groin; abdominal pain; fatigue; fever; night sweats; and/or weight loss. The underlying cause of B-cell lymphoma is poorly understood. However, the condition can be associated with genetic abnormalities, environmental factors, viruses, immunodeficiency states, and connective-tissue disorders. Treatment is based on many factors, including the severity of the condition and the associated signs and 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
|
B-cell lymphoma
|
c0079731
| 25,965 |
gard
|
https://rarediseases.info.nih.gov/diseases/5877/b-cell-lymphoma
| 2021-01-18T18:01:54 |
{"mesh": ["D016393"], "umls": ["C0079731"], "synonyms": ["Lymphoma, B-Cell"]}
|
An x-ray image of a spiral fracture to the left humerus of a 27-year-old male. The injury was sustained during a fall.
A spiral fracture (a.k.a. torsion fracture) is a bone fracture occurring when torque (a rotating force) is applied along the axis of a bone.[1] Spiral fractures often occur when the body is in motion while one extremity is planted. For example, a spiral fracture of the tibia (the shinbone) can occur in young children when they fall short on an extended leg while jumping. This occurrence is known as "toddler's fracture". Spiral fractures are also recognized as being suspicious in very young children since to obtain a fracture of this sort requires forceful twisting or jerking of the limbs. Child abuse (physical abuse) and certain conditions such as osteogenesis imperfecta (OI) are considered differentials when identifying spiral or torsion fractures.[2]
## References[edit]
1. ^ "Spiral Fracture". Harvard University. Archived from the original on 8 August 2010. Retrieved 25 November 2010.
2. ^ Lukefahr M.D., James. "Child Abuse and Neglect Fractures". www.utmb.edu. University of Texas Health Science Center. Archived from the original on 26 August 2016. Retrieved 15 December 2014.
## External links[edit]
* http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
This article about Orthopedic surgery is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Spiral fracture
|
c0332712
| 25,966 |
wikipedia
|
https://en.wikipedia.org/wiki/Spiral_fracture
| 2021-01-18T18:57:38 |
{"mesh": ["D050723"], "umls": ["C0332712"], "wikidata": ["Q2444742"]}
|
Acrocyanosis
SpecialtyCardiology
Vascular disease
Acrocyanosis is persistent blue or cyanotic discoloration of the extremities, most commonly occurring in the hands, although it also occurs in the feet and distal parts of face. [1][2][3] [4] Although described over 100 years ago and not uncommon in practice, the nature of this phenomenon is still uncertain.[citation needed] The very term "acrocyanosis" is often applied inappropriately in cases when blue discoloration of the hands, feet, or parts of the face is noted.[1] The principal (primary) form of acrocyanosis is that of a benign cosmetic condition,[2] sometimes caused by a relatively benign neurohormonal disorder.[3] Regardless of its cause, the benign form typically does not require medical treatment. A medical emergency would ensue if the extremities experience prolonged periods of exposure to the cold, particularly in children and patients with poor general health.[3] However, frostbite differs from acrocyanosis because pain (via thermal nociceptors) often accompanies the former condition, while the latter is very rarely associated with pain. There are also a number of other conditions that affect hands, feet, and parts of the face with associated skin color changes that need to be differentiated from acrocyanosis: Raynaud phenomenon, pernio, acrorygosis, erythromelalgia, and blue finger syndrome. The diagnosis may be challenging in some cases, especially when these syndromes co-exist.[1]
Acrocyanosis may be a sign of a more serious medical problem, such as connective tissue diseases and diseases associated with central cyanosis. Other causative conditions include infections, toxicities, antiphospholipid syndrome, cryoglobulinemia, neoplasms. In these cases, the observed cutaneous changes are known as "secondary acrocyanosis". They may have a less symmetric distribution and may be associated with pain and tissue loss.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 In the newborn
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Acrocyanosis is characterized by peripheral cyanosis: persistent cyanosis of the hands, feet, or face.[4] The extremities often are cold and clammy and may exhibit some swelling (especially in the warmer weather).[1][2] The palms and soles exhibit a wide range of sweating from moderately moist to profuse, but all peripheral pulses should have normal rate, rhythm, and quality.[3][4] Exposure to cold temperatures worsens the cyanosis, while it often improves on warming.[2] Aside from the color changes, patients normally are asymptomatic and therefore there is usually no associated pain. The most common sign, discoloration, usually is what prompts patients to seek medical care.[3][4]
## Pathophysiology[edit]
The precise mechanism of acrocyanosis is not known. The current line of thinking goes that vasospasms in the cutaneous arteries and arterioles produce cyanotic discoloration, while compensatory dilatation in the postcapillary venules causes sweating. Arteriovenous subpapillary plexus shunting also occurs.[1][2][4] Persistent vasoconstriction at the precapillary sphincter creates a local hypoxic environment, thus releasing adenosine into the capillary bed.[5] Vasospasms force adenosine to enter the capillary bed, where it vasodilates the postcapillary venules.[5] Such differences in vessel tone create a countercurrent exchange system that attempts to retain heat. Profuse sweating would then be caused by an overwhelmed countercurrent exchange system. In addition to adenosine, other hormones may contribute to acrocyanosis such as increase blood levels of serotonin.[6] This would seem to support case studies reporting acrocyanosis as an unusual side effect for pediatric patients taking tricyclic antidepressants, as these medications can inhibit the reuptake of serotonin and thus increase their blood concentrations.[7] Acrocyanosis has been reported in association with many other medications and substances.[1]
## Diagnosis[edit]
Acrocyanosis is diagnosed clinically, based on a medical history and physical examination; laboratory studies or imaging studies are not necessary. The normal peripheral pulses rule out peripheral arterial occlusive disease, where arterial narrowing limits blood flow to the extremities. Pulse oximetry will show a normal oxygen saturation. Unlike the closely related Raynaud's phenomenon, cyanosis is continually persistent. In addition, there is usually no associated trophic skin changes, localized pain, or ulcerations.[2][4] Capillaroscopy and other laboratory methods may be helpful but only complement clinical diagnosis in unclear cases, especially when connective tissue disorders may be present.[1]
## Treatment[edit]
There is no standard medical or surgical treatment for acrocyanosis, and treatment, other than reassurance and avoidance of cold, is usually unnecessary. The patient is reassured that no serious illness is present. A sympathectomy would alleviate the cyanosis by disrupting the fibers of the sympathetic nervous system to the area.[3] However, such an extreme procedure would rarely be appropriate. Treatment with vasoactive drugs is not recommended but traditionally is mentioned as optional. However, there is little, if any, empirical evidence that vasoactive drugs (α-adrenergic blocking agents or calcium channel blockers) are effective.[1][2]
## Prognosis[edit]
While there is no cure for acrocyanosis, patients otherwise have excellent prognosis.[2] Unless acrocyanosis results from another condition (e.g. malignancy, antiphospholipid syndrome, atherosclerosis, acute ischemic limb, bacterial endocarditis), there is no associated increased risk of disease or death, and there are no known complications. Aside from the discoloration, there are no other symptoms: no pain, and no loss of function. Patients can expect to lead normal lives. In secondary acrocyanosis treatment of the primary condition defines outcomes.[1]
## Epidemiology[edit]
Although there is no definitive reporting on its incidence, acrocyanosis shows prevalence in children and young adults than in patients thirty years of age or older.[3] Epidemiological data suggests that cold climate, outdoor occupation, and low body mass index are significant risk factors for developing acrocyanosis.[8] As expected, acrocyanosis would be more prevalent in women than in men due to differences in BMI.[4] However, the incidence rate of acrocyanosis often decreases with increasing age, regardless of regional climate. It completely resolves in many women after menopause implying significant hormonal influences.[1][8]
## In the newborn[edit]
Acrocyanosis is common initially after delivery in the preterm and full term newborn.[9] Intervention is typically not required as it is seen as a normal finding. Acrocyanosis can also return in a newborn if a baby is cold, such as after a bath, and is considered normal as well.[10]
## See also[edit]
* Pernio (Chilblains)
* Cyanosis
* Peripheral artery occlusive disease
* Raynaud's phenomenon
## References[edit]
1. ^ a b c d e f g h i j k Kurklinsky AK, Miller VM, Rooke TW. "Acrocyanosis: The Flying Dutchman." Vascular Medicine 2011 Aug;16(4):288-301
2. ^ a b c d e f g h i Olin, J.W. (2004). Other peripheral arterial diseases. In L. Goldman & D. Ausiello (Eds.), Cecil Textbook of Medicine, 22nd Edition. (Vol 1, pp. 475). Philadelphia: WB Saunders ISBN 0-7216-9653-8
3. ^ a b c d e f g Creager, M.A. & Dzau, V.J. (2005). Vascular diseases of the extremities. In D.L. Kasper, A.S. Fauci, D.L. Longo, E. Braunwald, S.L. Hauser, & J.L Jameson (Eds.), Harrison's Prins of Internal Medicine (16th ed., pp. 1490). New York: McGraw-Hill ISBN 0-07-140235-7
4. ^ a b c d e f g (2006). Peripheral vascular disorders. In R.S. Porter, T.V. Jones, & M.H. Beer (Eds.), Merck Manual of Diagnosis and Therapy (18th ed., ch. 212). New York: Wiley, John & Sons ISBN 0-911910-18-2
5. ^ a b Guyton, A.C. & Hall, J.E. (2006) Textbook of Medical Physiology (11th ed.) Philadelphia: Elsevier Saunder ISBN 0-7216-0240-1
6. ^ Carpenter, PK; Morris, D (1990). "Association of acrocyanosis with Asperger's syndrome". Journal of Mental Deficiency Research. 34 (1): 87–90. doi:10.1111/j.1365-2788.1990.tb01519.x. PMID 2325122.
7. ^ Karakara, I.; Aydoğan, M.; Coşkun, A.; Gökalp, A.S. (2003). "Acrocyanosis as a side effect of tricyclic antidepressants: A case report". The Turkish Journal of Pediatrics. 45 (2): 155–57. PMID 12921305.
8. ^ a b Carpentier, P.H. (1998). "Definition and Epidemiology of Vascular Acrosyndromes". Rev Prat. 48 (15): 1641–6. PMID 9814064.
9. ^ Engle, W.A. & Boyle, D.W. (2005). Delivery room management and transitional care. In L.M. Osborn, T.G. DeWitt, L.R. First, & J.A. Zenel (Eds.), Pediatrics (pp. 1250-61). Philadelphia: Elsevier Mosby ISBN 0-323-01199-3
10. ^ "Skin Color Changes in the Newborn". Saint Luke's Health System. Retrieved 2020-04-08.
## External links[edit]
Classification
D
* ICD-10: I73.8
* ICD-9-CM: 443.89
* DiseasesDB: 29444
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Acrocyanosis
|
c0221347
| 25,967 |
wikipedia
|
https://en.wikipedia.org/wiki/Acrocyanosis
| 2021-01-18T19:04:29 |
{"umls": ["C0221347"], "icd-9": ["443.89"], "icd-10": ["I73.8"], "wikidata": ["Q202283"]}
|
A number sign (#) is used with this entry because of evidence that this form of dilated cardiomyopathy is caused by mutation in the MYH6 gene (160710).
For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200).
Molecular Genetics
Carniel et al. (2005) analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD), including 134 affected and 214 unaffected individuals, and identified 3 heterozygous missense mutations in 3 sporadic Caucasian patients (160710.0005-160710.0007, respectively). None of the 3 mutations were detected in 150 ethnically similar controls. Mutations in 7 known CMD genes were excluded in the patients in whom MYH6 mutations had been identified. Carniel et al. (2005) noted that the CMD carrier phenotype was characterized by late onset of disease, mild symptoms, and mild to moderate left ventricular dysfunction with slow progression of the disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CARDIOMYOPATHY, DILATED, 1EE
|
c0340427
| 25,968 |
omim
|
https://www.omim.org/entry/613252
| 2019-09-22T15:59:13 |
{"doid": ["0110453"], "mesh": ["C536231"], "omim": ["613252"], "orphanet": ["154"], "genereviews": ["NBK1309"]}
|
Congenital disorder of digestive system
Pancreas divisum
SpecialtyMedical genetics
Pancreatic divisum is a congenital anomaly in the anatomy of the ducts of the pancreas in which a single pancreatic duct is not formed, but rather remains as two distinct dorsal and ventral ducts. Most individuals with pancreas divisum remain without symptoms or complications. A minority of people with pancreatic divisum may develop episodes of abdominal pain, nausea or vomiting due to acute or chronic pancreatitis. The presence of pancreas divisum is usually identified with cross sectional diagnostic imaging, such as MRI or computed tomography (CT) imaging. In some cases, endoscopic retrograde cholangiopancreatography (ERCP) is performed, revealing the diagnosis of pancreas divisum. If no symptoms or complications are present, then treatment is not necessary. However, if there is recurrent pancreatitis, then a sphincterotomy of the minor papilla may be indicated.
## Contents
* 1 Causes
* 2 Diagnosis
* 3 Treatment
* 4 Occurrence
* 5 References
* 6 External links
## Causes[edit]
The human embryo begins life with two ducts in the pancreas, the ventral duct and the dorsal duct. Normally, the two ducts will fuse together to form one main pancreatic duct; this occurs in more than 90% of embryos. In approximately 10% of embryos the ventral and dorsal ducts fail to fuse together, resulting in pancreas divisum. In utero, the majority of the pancreas is drained by the dorsal duct which opens up into the minor duodenal papilla. The ventral duct drains the minority of the pancreas and opens into the major duodenal papilla. In adults however, this situation is reversed whereby 70% of the pancreas is drained by the ventral duct. Therefore in pancreas divisum, where fusion of the ducts does not occur, the major drainage of the pancreas is done by the dorsal duct which opens up into the minor papilla.[citation needed]
## Diagnosis[edit]
MRCP image of pancreas divisum.
The most common and accurate way of diagnosing an individual with this anomaly is by MRCP (Magnetic Resonance Cholangiopancreatography) or ERCP (Endoscopic Retrograde Cholangiopancreatography). This test can demonstrate the presence of two separately draining ducts within the pancreas. Other tests can assist doctors with diagnosis, such as a CT scan and an MRI.[citation needed]
## Treatment[edit]
Pancreas divisum in individuals with no symptoms does not require treatment. For cases with mild and infrequent attacks, management may involve a low-fat diet, medications to reduce pain and gastrointestinal reactions, and pancreatic enzyme supplementation.[1]
A surgeon may attempt a sphincterotomy by cutting the minor papilla to enlarge the opening and allow pancreatic enzymes to flow normally. During surgery, a stent may be inserted into the duct to ensure that the duct will not close causing a blockage. This surgery can cause pancreatitis in patients, or in rare cases, kidney failure and death. Endoscopic approaches (ERCP) are sometimes used for symptomatic pancreas divisum, which offers the benefit of a less invasive approach compared with surgery.[2] No large-scale clinical studies comparing surgical and endoscopic approaches are available.[3]
## Occurrence[edit]
Studies involving autopsy and imaging series indicate that between 6% and 10% of the population have pancreas divisum, but it is asymptomatic in the majority (>95%) of cases. In those who develop symptoms, the symptoms seen in pancreas divisum and pancreatitis with typical anatomy are the same:[1] abdominal pain is common, typically of sudden onset and located in the left upper quadrant of the abdomen and often accompanied by nausea and vomiting. [4]
## References[edit]
1. ^ a b Gutta A, Fogel E, Sherman S (2019). "Identification and management of pancreas divisum". Expert Rev Gastroenterol Hepatol. 13 (11): 1089–1105. doi:10.1080/17474124.2019.1685871. PMC 6872911. PMID 31663403.CS1 maint: multiple names: authors list (link)
2. ^ Zippi, M; Familiari, P; Traversa, G; De Felici, I; Febbraro, I; Occhigrossi, G; Severi, C (2014). "Role of endoscopic sphincterotomy of the minor papilla in pancreas divisum". La Clinica Terapeutica. 165 (4): e312-6. doi:10.7417/CT.2014.1748. PMID 25203348.
3. ^ Hafezi, Mohammadreza; Mayschak, Bartosch; Probst, Pascal; Büchler, Markus W.; Hackert, Thilo; Mehrabi, Arianeb (2017). "A systematic review and quantitative analysis of different therapies for pancreas divisum". The American Journal of Surgery. 214 (3): 525–537. doi:10.1016/j.amjsurg.2016.12.025. ISSN 0002-9610. PMID 28110914.
4. ^ Quinlan JD (2014). "Acute pancreatitis". Am Fam Physician. 90 (9): 632–9. PMID 25368923.
## External links[edit]
* 00303 at CHORUS
Classification
D
* ICD-10: Q45.3
* ICD-9-CM: 751.7
* DiseasesDB: 31894
External resources
* MedlinePlus: 000247
* eMedicine: radio/520
* 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
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Pancreas divisum
|
c0266270
| 25,969 |
wikipedia
|
https://en.wikipedia.org/wiki/Pancreas_divisum
| 2021-01-18T18:28:13 |
{"umls": ["C0266270"], "icd-9": ["751.7"], "icd-10": ["Q45.3"], "wikidata": ["Q585140"]}
|
Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
Individuals with CAKUT have one or more kidney or urinary tract abnormalities. For paired structures, like the kidneys and ureters, one or both may be affected. Many different developmental abnormalities are classified as CAKUT, including underdevelopment or absence of a kidney (renal hypodysplasia or agenesis), a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the kidneys (hydronephrosis), an extra ureter leading to the kidney (duplex kidney or duplicated collecting system), a blockage in a ureter where it joins the kidney (ureteropelvic junction obstruction), an abnormally wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and an abnormal membrane in the urethra that blocks the flow of urine out of the bladder (posterior urethral valve).
CAKUT varies in severity. The abnormalities can result in recurrent urinary tract infections or a buildup of urine in the urinary tract, which may damage the kidneys or other structures. Severe CAKUT can result in life-threatening kidney failure and end-stage renal disease.
CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. However, urinary system abnormalities sometimes occur without other signs and symptoms, which is known as nonsyndromic or isolated CAKUT.
## Frequency
CAKUT is estimated to occur in 1 in 100 to 500 newborns. These abnormalities are the most common cause of end-stage renal disease in children.
## Causes
The causes of CAKUT are complex. It is likely that a combination of genetic and environmental factors contribute to the formation of kidney and urinary tract abnormalities.
The genetic factors involved in most cases of CAKUT are unknown. Syndromic CAKUT is caused by changes in the genes associated with the particular syndrome. Variations in these same genes can also underlie some cases of isolated CAKUT. The genes most commonly associated with isolated CAKUT are PAX2, which is also associated with renal coloboma syndrome, and HNF1B, which is involved in 17q12 deletion syndrome and RCAD syndrome. These two genes play critical roles in the formation of the kidneys, urinary tract, and other tissues and organs during embryonic development. Certain mutations in these genes are thought to disrupt development of the kidneys or other parts of the urinary tract before birth, leading to CAKUT. Mutations in many other genes involved in development of the urinary system have also been associated with isolated or syndromic CAKUT.
Research shows that the same genetic mutation can lead to different kidney or urinary tract abnormalities, even among members of the same family. It is likely that additional changes in other genes help determine how the condition develops and how severe it is. In addition, environmental factors may influence development of CAKUT. The risk of CAKUT is higher in babies whose mothers had diabetes; took certain medications that are harmful to the kidneys, such as some anti-seizure drugs; or lacked certain vitamins and minerals, such as folate and iron, during pregnancy.
### Learn more about the genes associated with Congenital anomalies of kidney and urinary tract
* EYA1
* FRAS1
* FREM1
* FREM2
* GRIP1
* HNF1B
* PAX2
* SALL1
* SIX1
* SIX5
* WNT4
Additional Information from NCBI Gene:
* BMP4
* DSTYK
* GREB1L
* SIX2
* SOX17
* TBX18
## Inheritance Pattern
Inheritance of CAKUT is complex and not completely understood. About 10 to 20 percent of cases are thought to occur in families. When inherited, CAKUT most commonly follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause an abnormality. However, some people who have the altered gene never develop CAKUT, a situation known as reduced penetrance.
Less commonly, CAKUT follows 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 have signs or symptoms of the condition.
In many cases, the inheritance pattern is unknown or the condition is not inherited. In some of these cases, a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development may underlie the urinary system abnormality. These cases occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Congenital anomalies of kidney and urinary tract
|
c1835826
| 25,970 |
medlineplus
|
https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract/
| 2021-01-27T08:25:23 |
{"mesh": ["C563661"], "omim": ["610805", "143400"], "synonyms": []}
|
Gene expression profiling has revealed that diffuse large B-cell lymphoma (DLBCL) is composed of at least 3 different sub-groups, each having distinct oncogenic mechanisms that respond to therapies in different ways. Germinal Center B-Cell like (GCB) DLBCLs appear to arise from normal germinal center B cells, while Activated B-cell like (ABC) DLBCLs are thought to arise from postgerminal center B cells that are arrested during plasmacytic differentiation.[1] The differences in gene expression between GCB DLBCL and ABC DLBCL are as vast as the differences between distinct types of leukemia, but these conditions have historically been grouped together and treated as the same disease.[2]
## Contents
* 1 Distinguishing features
* 2 Normal B-cell maturation process
* 3 Mechanisms of malignant transformation
* 3.1 Preventing apoptosis
* 3.2 Blocking differentiation
* 4 Treatment
* 4.1 Monoclonal antibodies
* 4.2 Bcl-2 inhibitors
* 4.3 mTOR (mammalian target of rapamycin) inhibitors
* 4.4 Syk (Spleen Tyrosine Kinase) inhibitors
* 4.5 Proteasome inhibitors
* 5 References
## Distinguishing features[edit]
A gene translocation between chromosome 14 (containing the antibody heavy chain locus) and chromosome 18 (containing the BCL-2 locus) is present in 45% of GCB DLBCLs but has never been found in ABC DLBCLs.[2] This T(14,18) translocation places the BCL-2 gene close to the heavy chain gene enhancer and results in the overexpression of the Bcl-2 protein. Bcl-2 proteins prevent the activation of the caspases that lead to programmed cell death (apoptosis).[3]
Activation of the nuclear factor kappa-light-chain-enhancer of activated B-cells (NF-κB) pathway is found only in ABC DLBCLs and not GCB DLBCLs.[2]
GCB DLBCL shows amplification of the oncogenic mir-17–92 microRNA cluster and deletion of the tumor suppressor PTEN but these events have not been found in ABC DLBCL[1]
## Normal B-cell maturation process[edit]
B-cells form in the bone marrow and undergo gene rearrangement in order to develop B-cell receptors (BCRs) that bind to a specific antigen. Once activated by an antigen, B-cells proliferate and further differentiate into plasma cells and memory B-cells.[4] B-cells that have not encountered an antigen are called naive B cells. When naïve B-cells encounter an antigen, one of the pathways that they can follow is through the germinal center environment. B-cells within the germinal center proliferate and undergo immunoglobulin somatic hypermutation (SHM) of IgV region genes to revise their antigen receptors. The rearranging of genes makes the cells capable of generating antibodies with a higher or lower affinity to the specified antigen. Follicular dendritic cells and T cells help to select the B-cells that have a high affinity to the antigen for further differentiation into plasma cells and memory cells. A large fraction of germinal center B-cells acquire somatic mutations that prohibit antigen binding and these undergo apoptosis.[5]
## Mechanisms of malignant transformation[edit]
Two oncogenic mechanisms that appear to be active in GCB DLBCL are the prevention of apoptosis and the blocking of terminal differentiation.
### Preventing apoptosis[edit]
Normal germinal center B-cells appear to be poised for apoptosis unless they are selected to progress to the next stage of differentiation. Most normal germinal center B-cells express low levels of anti-apoptotic proteins such as Bcl-2.[4] In GBC DLBCLs, the T(14,18) translocation can result in an increase of the Bcl-2 protein, which may reduce the number of cells that undergo apoptosis.
### Blocking differentiation[edit]
Blocking the differentiation of germinal center B cells is dangerous because the cells are programmed to divide rapidly at this stage. The SHM that occurs in the germinal center can also target non-immunoglobulin loci and may be responsible for translocation of the BCL-6 gene. BCL-6 genes are involved in several cell processes that can affect the ability of the B-cell to differentiate and proliferate. BCL-6 genes produce BCL-6 proteins. These proteins work with other transcription factors (BLIMP1, PAX5, XBP1) to form a regulatory circuit that controls the progression of germinal center B cells to plasma cells. BCL-6 proteins repress genes involved in terminal differentiation and promote proliferation by blocking expression of a cell-cycle inhibitor (p27KIP1). BCL-6 is also an inhibitor of cellular senescence. Cellular senescence is a programmed response that prevents a cell from dividing after some number of cell divisions.[4]
## Treatment[edit]
DLBCL patients are at higher risk when they relapse early after R-CHOP chemotherapy and have a poor response to second-line rituximab-containing treatments even when these regimens involve high-dose therapy and autologous stem cell transplant.[6] Approximately half of DLBCL patients develop CHOP-resistant cells. A study of DLBCL cell lines indicated that 14-3-3ζ proteins may play a role in mediating resistance of DLBCL cells to CHOP. 14-3-3 proteins exert anti-apoptotic activity by interfering with the function of BH3-only proteins and has been validated as a potential molecular target for anticancer therapeutic development in other types of cancers.[7]
### Monoclonal antibodies[edit]
Monoclonal antibodies are made by injecting human cancer cells into mice so that their immune systems create antibodies against foreign antigens. Monoclonal antibodies target specific antigens on cancer cells and may enhance the patient's immune response. They can be administered alone or be linked (conjugated) to anticancer drugs, radioisotopes, or other biologic response modifiers. There are several therapeutic mechanisms for monoclonal antibodies:
1. Directly initiates apoptosis in the targeted cells
2. Antibody-dependent cell-mediated cytotoxicity (ADCC) -- Recruits monocytes, macrophages, and natural killer cells to destroy the targeted cells
3. Complement-dependent cytotoxicity (CDC)-- Initiates the complement system which activates the membrane attack complex causing cell lysis and death.
4. Delivers chemotherapy or radiation in a targeted manner which allows higher concentrations to be administered
Monoclonal antibodies for treatment of B-cell malignancies[8]
* CD20. Approximately 95% of B-cell lymphomas express CD20, but CD20 is not critical for B-cell survival. Clonal B-cells spontaneously mutate the idiotypic region of their immunoglobulin. This high mutation rate makes them prone to the selection of B-cells lacking the CD20 antigen following treatment with CD20-targeting monoclonal antibodies. As a result, CD20 may lose its effectiveness as a target after as little as one or two treatments with monoclonal antibodies such as rituximab.[9] A study in Japan found that approximately 26% of relapsed B-cell lymphoma patients lost CD20 expression during treatment with rituximab. Lab tests involving 5-Aza showed that CD20 expression and rituximab sensitivity could be restored in some cases using epigenetic drug treatment.[10]
* Rituximab (Rituxan. The mechanism of action of Rituximab against DLBCL is not fully understood, but studies suggest that rituximab modulates cellular and molecular signal transduction pathways that regulate bcl-2-expression. Interaction between bcl-2 expression and IL-10 growth factors may contribute to the resistance mechanisms of DLBCL to chemotherapy.[11]
* Tositumomab (Bexxar). Anti-CD20 conjugated with radionuclide iodine-131
* Ibritumomab tiuxetan (Zevalin). Anti-CD20 conjugated with radioactive isotope (either yttrium-90 or indium-111)
* CD22. Approximately 85% of DLBCLs express CD22. It is expressed on pre-B and mature B cells, and expression is lost upon maturation to plasma cells.[12]
* Epratuzumab (Lymphocide). After binding epratuzumab, CD22 is rapidly internalized. Cell death does not appear to be mediated by complement, but modest antibody-dependent cellular cytotoxicity and direct killing effects have been demonstrated.[12]
* CD70. In normal lymphoid tissues CD27 and its ligand CD70 have a restricted expression pattern, but a 1999 study found CD70 on 71% of large B-cell lymphomas.[13]
* Vorsetuzumab mafodotin (antibody conjugated to monomethyl auristatin F). Monomethyl auristatin F is a mitotic inhibitor. Preliminary data from a phase I clinical trial of vorsetuzumab mafodotin showed that of the 7 patients with non-Hodgkin lymphoma, one achieved complete remission, four were stable, one experienced progressive disease, and one was not evaluable.[14]
### Bcl-2 inhibitors[edit]
Apoptosis is one of the major mechanisms of cell death targeted by cancer therapies. Reduced susceptibility to apoptosis increases the resistance of cancer cells to radiation and cytotoxic agents. B-cell lymphoma-2 (Bcl-2) family members create a balance between pro and anti-apoptotic proteins. Pro-apoptotic proteins include Bax and Bak. Anti-apoptotic proteins include Bcl-2, Bcl-XL, Bcl-w, Mcl-1. When anti-apoptotic family members are overexpressed, apoptotic cell death becomes less likely.[15]
* Oblimersen sodium (G3139, Genasense) targets BCL-2 mRNA
* ABT-737 (oral form navitoclax, ABT-263). A small molecule that targets anti-apoptotic Bcl-2 family proteins (Bcl-2, Bcl-XL and Bcl-w). ABT-737 binds anti-apoptotic Bcl-2 proteins with an affinity two or three orders of magnitude more potent than previously reported compounds. High basal levels of Mcl-1 expression are associated with resistance to ABT-737. Combining ABT-737 with second agents that inactivate Mcl-1 may reduce this effect.[15] ABT-737 has demonstrated single-agent efficacy against cell lines from lymphoid malignancies known to express high levels of Bcl-2, including DLBCL. It has also been found to be synergistic with proteasome inhibitors.[16]
* Fenretinide. A synthetic retinoid that induces apoptosis of cancer cells and acts synergistically with chemotherapeutic drugs by triggering the activation of 12-Lox (12-lipoxygenase) leading to oxidative stress and apoptosis via the induction of the transcription factor Gadd153 and the Bcl-2-family member protein Bak.[17]
### mTOR (mammalian target of rapamycin) inhibitors[edit]
mTOR inhibitors :
* Everolimus
* Temsirolimus
mTOR is a kinase enzyme inside the cell that regulates cell growth, proliferation, and survival. mTOR inhibitors lead to cell cycle arrest in the G1 phase and also inhibits tumor angiogenesis by reducing synthesis of VEGF.
A Phase II trial of Evorolimus on relapsed DLBCL patients showed a 30% Overall Response Rate (ORR).[18]
### Syk (Spleen Tyrosine Kinase) inhibitors[edit]
Syk inhibitors include :
* Fostamatinib
* Tamatinib
Chronic signaling through the B-cell receptor appears to contribute to the survival of DLBCL. These survival signals can be blocked by Syk inhibitors. However, since the BCR signaling pathway is not as important to the GCB DLBCL as it is to the ABC subtype, Syk inhibitors may not be effective against GCB DLBCL[6]
### Proteasome inhibitors[edit]
* Bortezomib (Velcade)
Proteasome inhibitors inhibit the NF-κB pathway. Since this pathway is not a significant factor in GCB DLBCL, proteasome inhibitors have not been found to be effective against GCB DLBCL. A clinical trial of bortezomib showed that bortezomib alone had no activity in DLBCL, but when combined with chemotherapy, it demonstrated an ORR of 83% in ABC DLBCL and 13% in GCB DLBCL, suggesting that bortezomib enhances the activity of chemotherapy for ABC but not GCB DLBCL when combined with conventional chemotherapy.[19]
## References[edit]
1. ^ a b Lenz, G.; Wright, G. W.; Emre, N. C. T.; Kohlhammer, H.; Dave, S. S.; Davis, R. E.; Carty, S.; Lam, L. T.; et al. (2008). "Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways". Proceedings of the National Academy of Sciences. 105 (36): 13520–5. doi:10.1073/pnas.0804295105. PMC 2533222. PMID 18765795.
2. ^ a b c Staudt, Louis M. [1] Archived 2011-07-27 at the Wayback Machine, "Center for Cancer Research, Dr. Stoudt Description of Research", Updated 2/20/2009, accessed 1/28/2011[unreliable medical source?]
3. ^ Kimball, John W. [2], "Kimball's Biology Pages, BCL-2", accessed 1/29/2011[self-published source?]
4. ^ a b c Shaffer, A. L.; Rosenwald, Andreas; Staudt, Louis M. (2002). "Decision making in the immune system: Lymphoid Malignancies: the dark side of B-cell differentiation". Nature Reviews Immunology. 2 (12): 920–32. doi:10.1038/nri953. PMID 12461565.
5. ^ Klein, U.; Tu, Y; Stolovitzky, GA; Keller, JL; Haddad Jr, J; Miljkovic, V; Cattoretti, G; Califano, A; Dalla-Favera, R (2003). "Transcriptional analysis of the B cell germinal center reaction". Proceedings of the National Academy of Sciences. 100 (5): 2639–44. doi:10.1073/pnas.0437996100. PMC 151393. PMID 12604779.
6. ^ a b Flowers, C. R.; Sinha, R.; Vose, J. M. (2010). "Improving Outcomes for Patients with Diffuse Large B-Cell Lymphoma". CA: A Cancer Journal for Clinicians. 60 (6): 393–408. doi:10.3322/caac.20087. PMID 21030533.
7. ^ Maxwell, Steve A.; Li, Zenggang; Jaya, David; Ballard, Scott; Ferrell, Jay; Fu, Haian (2009). "14-3-3ζ Mediates Resistance of Diffuse Large B Cell Lymphoma to an Anthracycline-based Chemotherapeutic Regimen". Journal of Biological Chemistry. 284 (33): 22379–89. doi:10.1074/jbc.M109.022418. PMC 2755960. PMID 19525224.
8. ^ Bishop, Michael R. [3], "Monoclonal Antibodies", accessed 2/4/2011
9. ^ Davis, TA; Czerwinski, DK; Levy, R (1999). "Therapy of B-cell lymphoma with anti-CD20 antibodies can result in the loss of CD20 antigen expression". Clinical Cancer Research. 5 (3): 611–5. PMID 10100713.
10. ^ Hiraga, J.; Tomita, A.; Sugimoto, T.; Shimada, K.; Ito, M.; Nakamura, S.; Kiyoi, H.; Kinoshita, T.; Naoe, T. (2009). "Down-regulation of CD20 expression in B-cell lymphoma cells after treatment with rituximab-containing combination chemotherapies: its prevalence and clinical significance". Blood. 113 (20): 4885–93. doi:10.1182/blood-2008-08-175208. PMID 19246561.
11. ^ Park YH, Sohn SK, Kim JG, et al. (March 2009). "Interaction between BCL2 and interleukin-10 gene polymorphisms alter outcomes of diffuse large B-cell lymphoma following rituximab plus CHOP chemotherapy". Clin. Cancer Res. 15 (6): 2107–15. doi:10.1158/1078-0432.CCR-08-1588. PMID 19276283.
12. ^ a b Kahl, Brad (2008). "Chemotherapy Combinations With Monoclonal Antibodies in Non-Hodgkin's Lymphoma". Seminars in Hematology. 45 (2): 90–4. doi:10.1053/j.seminhematol.2008.02.003. PMC 2919066. PMID 18381103.
13. ^ Lens, Susanne M. A.; Drillenburg, Paul; Den Drijver, Bianca F. A.; Van Schijndel, Gijs; Pals, Steven T.; Van Lier, Rene A. W.; Van Oers, Marinus H. J. (1999). "Aberrant expression and reverse signalling of CD70 on malignant B cells". British Journal of Haematology. 106 (2): 491–503. doi:10.1046/j.1365-2141.1999.01573.x. PMID 10460611.
14. ^ "Seattle Genetics Reports Preliminary Data from Phase I Clinical Trial of SGN-75" (Press release). Seattle Genetics. October 11, 2010. Retrieved February 20, 2011.
15. ^ a b Kang, M. H.; Reynolds, C. P. (2009). "Bcl-2 Inhibitors: Targeting Mitochondrial Apoptotic Pathways in Cancer Therapy". Clinical Cancer Research. 15 (4): 1126–32. doi:10.1158/1078-0432.CCR-08-0144. PMC 3182268. PMID 19228717.
16. ^ Paoluzzi L, Gonen M, Bhagat G, et al. (October 2008). "The BH3-only mimetic ABT-737 synergizes the antineoplastic activity of proteasome inhibitors in lymphoid malignancies". Blood. 112 (7): 2906–16. doi:10.1182/blood-2007-12-130781. PMID 18591385.
17. ^ Corazzari, M; Lovat, P; Oliverio, S; Disano, F; Donnorso, R; Redfern, C; Piacentini, M (2005). "Fenretinide: A p53-independent way to kill cancer cells". Biochemical and Biophysical Research Communications. 331 (3): 810–5. doi:10.1016/j.bbrc.2005.03.184. PMID 15865936.
18. ^ Witzig, T E; Reeder, C B; Laplant, B R; Gupta, M; Johnston, P B; Micallef, I N; Porrata, L F; Ansell, S M; et al. (2010). "A phase II trial of the oral mTOR inhibitor everolimus in relapsed aggressive lymphoma". Leukemia. 25 (2): 341–7. doi:10.1038/leu.2010.226. PMC 3049870. PMID 21135857.
19. ^ Dunleavy, K.; Pittaluga, S.; Czuczman, M. S.; Dave, S. S.; Wright, G.; Grant, N.; Shovlin, M.; Jaffe, E. S.; et al. (2009). "Differential efficacy of bortezomib plus chemotherapy within molecular subtypes of diffuse large B-cell lymphoma". Blood. 113 (24): 6069–76. doi:10.1182/blood-2009-01-199679. PMC 2699229. PMID 19380866.
* v
* t
* e
Leukaemias, lymphomas and related disease
B cell
(lymphoma,
leukemia)
(most CD19
* CD20)
By
development/
marker
TdT+
* ALL (Precursor B acute lymphoblastic leukemia/lymphoma)
CD5+
* naive B cell (CLL/SLL)
* mantle zone (Mantle cell)
CD22+
* Prolymphocytic
* CD11c+ (Hairy cell leukemia)
CD79a+
* germinal center/follicular B cell (Follicular
* Burkitt's
* GCB DLBCL
* Primary cutaneous follicle center lymphoma)
* marginal zone/marginal zone B-cell (Splenic marginal zone
* MALT
* Nodal marginal zone
* Primary cutaneous marginal zone lymphoma)
RS (CD15+, CD30+)
* Classic Hodgkin lymphoma (Nodular sclerosis)
* CD20+ (Nodular lymphocyte predominant Hodgkin lymphoma)
PCDs/PP
(CD38+/CD138+)
* see immunoproliferative immunoglobulin disorders
By infection
* KSHV (Primary effusion)
* EBV
* Lymphomatoid granulomatosis
* Post-transplant lymphoproliferative disorder
* Classic Hodgkin lymphoma
* Burkitt's lymphoma
* HCV
* Splenic marginal zone lymphoma
* HIV (AIDS-related lymphoma)
* Helicobacter pylori (MALT lymphoma)
Cutaneous
* Diffuse large B-cell lymphoma
* Intravascular large B-cell lymphoma
* Primary cutaneous marginal zone lymphoma
* Primary cutaneous immunocytoma
* Plasmacytoma
* Plasmacytosis
* Primary cutaneous follicle center lymphoma
T/NK
T cell
(lymphoma,
leukemia)
(most CD3
* CD4
* CD8)
By
development/
marker
* TdT+: ALL (Precursor T acute lymphoblastic leukemia/lymphoma)
* prolymphocyte (Prolymphocytic)
* CD30+ (Anaplastic large-cell lymphoma
* Lymphomatoid papulosis type A)
Cutaneous
MF+variants
* indolent: Mycosis fungoides
* Pagetoid reticulosis
* Granulomatous slack skin
aggressive: Sézary disease
* Adult T-cell leukemia/lymphoma
Non-MF
* CD30-: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma
* Pleomorphic T-cell lymphoma
* Lymphomatoid papulosis type B
* CD30+: CD30+ cutaneous T-cell lymphoma
* Secondary cutaneous CD30+ large-cell lymphoma
* Lymphomatoid papulosis type A
Other
peripheral
* Hepatosplenic
* Angioimmunoblastic
* Enteropathy-associated T-cell lymphoma
* Peripheral T-cell lymphoma not otherwise specified (Lennert lymphoma)
* Subcutaneous T-cell lymphoma
By infection
* HTLV-1 (Adult T-cell leukemia/lymphoma)
NK cell/
(most CD56)
* Aggressive NK-cell leukemia
* Blastic NK cell lymphoma
T or NK
* EBV (Extranodal NK-T-cell lymphoma/Angiocentric lymphoma)
* Large granular lymphocytic leukemia
Lymphoid+
myeloid
* Acute biphenotypic leukaemia
Lymphocytosis
* Lymphoproliferative disorders (X-linked lymphoproliferative disease
* Autoimmune lymphoproliferative syndrome)
* Leukemoid reaction
* Diffuse infiltrative lymphocytosis syndrome
Cutaneous lymphoid hyperplasia
* Cutaneous lymphoid hyperplasia
* with bandlike and perivascular patterns
* with nodular pattern
* Jessner lymphocytic infiltrate of the skin
General
* Hematological malignancy
* leukemia
* Lymphoproliferative disorders
* Lymphoid leukemias
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Germinal center B-cell like diffuse large B-cell lymphoma
|
None
| 25,971 |
wikipedia
|
https://en.wikipedia.org/wiki/Germinal_center_B-cell_like_diffuse_large_B-cell_lymphoma
| 2021-01-18T18:44:47 |
{"wikidata": ["Q5552237"]}
|
Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness.
Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose.
Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females.
In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood.
## Frequency
Schimke immuno-osseous dysplasia is a very rare condition. The prevalence in North America is estimated to be one in 1 million to 3 million people.
## Causes
Mutations in the SMARCAL1 gene increase the risk of Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based on the function of similar proteins, SMARCAL1 is thought to influence the activity (expression) of other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Mutations in the SMARCAL1 gene are thought to lead to disease by affecting protein activity, protein stability, or the protein's ability to bind to chromatin. It is not clear if mutations in the SMARCAL1 gene interfere with chromatin remodeling and the expression of other genes.
The mutations associated with Schimke immuno-osseous dysplasia disrupt the usual functions of the SMARCAL1 protein or prevent the production of any functional protein. People who have mutations that cause a complete lack of functional protein tend to have a more severe form of this disorder than those who have mutations that lead to an active but malfunctioning protein. However, in order for people with SMARCAL1 gene mutations to develop Schimke immuno-osseous dysplasia, other currently unknown genetic or environmental factors must also be present.
Approximately half of all people with Schimke immuno-osseous dysplasia do not have identified mutations in the SMARCAL1 gene. In these cases, the cause of the disease is unknown.
### Learn more about the gene associated with Schimke immuno-osseous dysplasia
* SMARCAL1
## Inheritance Pattern
Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Schimke immuno-osseous dysplasia
|
c0877024
| 25,972 |
medlineplus
|
https://medlineplus.gov/genetics/condition/schimke-immuno-osseous-dysplasia/
| 2021-01-27T08:25:14 |
{"gard": ["4984"], "mesh": ["C536629"], "omim": ["242900"], "synonyms": []}
|
Pechet et al. (1964, 1966) described a 'new' clotting defect in a 15-year-old boy, his mother, 1 brother and 1 sister. The proband had frequent traumatic hemorrhages. The relatives with laboratory abnormalities were asymptomatic. The maternal grandfather also showed a defect of clotting. The authors suggested that these persons lack a clotting factor that plays a role in the first phase of coagulation, following the activation of factor IX but before the activation of factor X.
Inheritance \- Autosomal dominant Lab \- Clotting factor defect following factor IX activation but before factor X activation Heme \- Pechet factor deficiency \- Frequent traumatic bleeding ▲ 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
|
PECHET FACTOR DEFICIENCY
|
c1868545
| 25,973 |
omim
|
https://www.omim.org/entry/169200
| 2019-09-22T16:36:30 |
{"mesh": ["C566814"], "omim": ["169200"], "synonyms": ["Alternative titles", "DYNIA FACTOR DEFICIENCY"]}
|
Developmental venous anomaly
Developmental venous anomaly in the cerebellum seen on axial contrast-enhanced T1 weighted MRI
A developmental venous anomaly (DVA, formerly known as venous angioma) is a congenital variant of the cerebral venous drainage. On imaging it is seen as a number of small deep parenchymal veins converging toward a larger collecting vein.
## Contents
* 1 Characteristics
* 2 Location
* 3 Diagnosis
* 4 References
## Characteristics[edit]
DVA can be characterized by the caput medusae sign of veins, which drains into a larger vein. The drains will either drain into a dural venous sinus or into a deep ependymal vein. It appears to look like a palm tree.[1]
## Location[edit]
Most common locations for the DVA:[1]
Location Percent of DVA Notes
Frontoparietal morphoea 36–64% Drains towards the frontal horn of the lateral ventricles.
Cerebellar hemisphere 14–27% Drains into the fourth ventricle.
## Diagnosis[edit]
DVA can be diagnosed through the cerebral venous sinus thrombosis with collateral drainage. DVA can also be found diagnosed with Sturge–Weber syndrome and can be found through leptomeningeal angiomatosis. Demyelinating disease has also been found to enlarge medulla veins.[2]
## References[edit]
1. ^ a b D'Souza, Donna. "Developmental venous anomaly | Radiology Reference Article | Radiopaedia.org". radiopaedia.org. Retrieved 2017-03-07.
2. ^ Santucci, G. M.; Leach, J. L.; Ying, J.; Leach, S. D.; Tomsick, T. A. (2008-08-01). "Brain Parenchymal Signal Abnormalities Associated with Developmental Venous Anomalies: Detailed MR Imaging Assessment". American Journal of Neuroradiology. 29 (7): 1317–1323. doi:10.3174/ajnr.A1090. ISSN 0195-6108. PMID 18417603.
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
|
Developmental venous anomaly
|
c1956261
| 25,974 |
wikipedia
|
https://en.wikipedia.org/wiki/Developmental_venous_anomaly
| 2021-01-18T18:35:04 |
{"mesh": ["D020787"], "umls": ["C1956261"], "wikidata": ["Q1206696"]}
|
Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).
## Epidemiology
Incidence is estimated to be 1/25,000 in USA, and it affects predominantly women. CLE occurs more in patients with a family history of lupus or other autoimmune diseases.
## Clinical description
CLE usually appears between 20-70 years but it has also been described in children (0-18 years). There are 4 main types of CLE: ACLE which presents as prominent non scarring-rash on cheeks and nose (''butterfly rash'', localized form) or more rarely, by a widespread eruption of red, symmetric, maculopapular lesions with accentuation of the UV-exposed areas (''maculopapular lupus rash'', generalized form); SCLE which presents with red, raised, scaly rash on sun-exposed areas of the body (annular/polycyclic form or papulosquamous form); CCLE which presents either as red to purple, well demarcated, scaly rash on the scalp, face, ears, and other sun-exposed areas (discoid LE; DLE), as frostbites (Chilblain LE; ChLE), or as painful subcutaneous nodules (LE profundus; LEP); and ICLE or LE tumidus (LET) presenting as red, swollen, urticaria-like plaques. Cutaneous manifestations appear in 72-85% of SLE patients.
## Etiology
Etiology is still elusive but it is thought to be multifactorial, involving a genetic predisposition. The disease is then triggered by UV radiation, infections (cytomegalovirus, hepatitis C, Epstein-Barr virus), hormones (estrogens, prolactin), and exposure to drugs and chemicals, which initiate an inflammatory process. Cytokines and chemokines are involved in propagating inflammatory responses, suppressing tolerogenic components of the immune system. Autoreactive B cells are intrinsic to lupus pathogenesis.
## Diagnostic methods
Diagnosis is based on family history, clinical and laboratory findings (detection of antibodies anti-nuclear antigens (ANA)), histological examinations of skin biopsy which show superficial and deep perivascular and periadnexal lymphocytic infiltrate, interface-dermatitis and thickening of the basement membrane as a late consequence. The epidermis is atrophic with necrotic keratinocytes. Diagnosis is confirmed by direct immunofluorescence (detects deposits of immunoglobulins and complement component C3 and IgG at the dermo epidermal junction) and photoprovocation.
## Differential diagnosis
Differential diagnosis depends on subtypes and includes: ACLE: dermatomyositis, erythema multiforme, drug-induced photosensitivity, dermatitis (atopic, contact), exanthema (viral, drug-induced), rosacea, seborrheic dermatitis. SCLE: classic mycosis fungoides, pityriasis rubra pilaris, vitiligo, tinea corporis, erythema anulare centrifugum, granuloma annulare, erythema gyratum repens, psoriasis. DLE: sarcoidosis, tuberculosis, leprosy, classic mycosis fungoides, cutaneous pseudolymphoma, granuloma faciale, nummular eczema, psoriasis, squamous and basal cell carcinoma, rosacea, lichen planus. ChLE: frostbites. LEP: subcutaneous panniculitis-like T-cell lymphoma, erythema nodosum. LET: Jessner lymphocytic infiltration of the skin, polymorphous light eruption, reticular erythematosus mucinosis.
## Management and treatment
Treatment goals are to improve skin appearance, limit scarring, and prevent new skin lesions. This includes use of UV light protection; topical therapy (corticosteroids and/or calcineurin inhibitors); and antimalarial therapy that may improve CLE and delay progression to SLE. For patients refractory to antimalarials, immunosupressive and immunomodulatory therapy (systemic corticosteroids, methotrexate, oral retinoids) may be proposed.
## Prognosis
CLE is a chronic skin disease, with significant impact on the patients' quotidian. Risk of SCLE and CCLE patients developing SLE is <10%. ACLE is associated with SLE.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Rare cutaneous lupus erythematosus
|
c0024137
| 25,975 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=535
| 2021-01-23T17:51:07 |
{"gard": ["6225"], "mesh": ["D008178"], "umls": ["C0024137"], "icd-10": ["L93.0", "L93.1", "L93.2"]}
|
A number sign (#) is used with this entry because of evidence that inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is caused by homozygous or compound heterozygous mutation in the TGFB1 gene (190180) on chromosome 19q13.
Clinical Features
Kotlarz et al. (2018) reported 3 patients from 2 unrelated families who presented in infancy with severe inflammatory bowel disease manifest as bloody diarrhea and failure to thrive. Colonoscopy showed chronic active inflammation with abscesses, crypt formation, inflammatory infiltration, and pseudopolyps. One patient also had eosinophilic esophagitis and esophageal candidiasis. All patients also showed global developmental delay associated with impaired speech and delayed intellectual development. One patient had hypotonia, and 2 sibs from family 2 developed myoclonic or complex partial seizures and had hypsarrhythmia on EEG. Brain imaging showed global atrophy, thin corpus callosum, posterior leukoencephalopathy, and delayed myelination. Two patients, one from each family, had recurrent infections, including respiratory infections, dermatitis, and varicella. Both of these patients had reduced T-cell responses to stimulation, and one had decreased T-cell subsets, including regulatory and helper T cells. The sole patient from family 1 was alive in stable condition at age 11 years. Both sibs in family 2 showed severe neurologic deterioration with loss of communication and increased spasticity, resulting in death at ages 25 and 39 months.
Inheritance
The transmission pattern of IBDIMDE in the families reported by Kotlarz et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 patients from 2 unrelated families with IBDIMDE, Kotlarz et al. (2018) identified homozygous or compound heterozygous missense mutations in the TFGB1 gene (190180.0008-190180.0010). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in both families. In vitro functional expression studies in HEK293 cells showed that the mutations resulted in reduced levels of secreted TGFB1 and reduced downstream signaling compared to controls, consistent with a loss of function. Colonic biopsy from 1 patient showed reduced levels of phosphorylated SMAD2 (601366)/SMAD3 (603109) in lamina propria mononuclear cells. Reduced levels of phosphorylated SMAD2/3 were also seen in mononuclear cells from an unrelated patient with Crohn disease (see 266600), suggesting a common pathophysiology.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive RESPIRATORY \- Recurrent respiratory infections ABDOMEN Gastrointestinal \- Inflammatory bowel disease \- Colitis \- Blood diarrhea \- Crypt abscesses \- Mucosal ulcerations \- Perianal disease \- Eosinophilic esophagitis \- Esophageal candidiasis SKIN, NAILS, & HAIR Skin \- Dermatitis MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired speech \- Cognitive dysfunction \- Loss of developmental skills \- Abnormal EEG \- Encephalopathy \- Seizures \- Hypsarrhythmia \- Cerebral atrophy \- Thin corpus callosum \- Delayed myelination IMMUNOLOGY \- Recurrent infections \- Impaired T-cell response to stimulation \- Decreased T reg and T helper cells MISCELLANEOUS \- Onset in early infancy \- Early death may occur \- Three patients from 2 unrelated families have been reported (last curated December 2018) MOLECULAR BASIS \- Caused by mutation in the transforming growth factor, beta-1 gene (TGFB1, 190180.0008 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
|
None
| 25,976 |
omim
|
https://www.omim.org/entry/618213
| 2019-09-22T15:43:04 |
{"omim": ["618213"]}
|
Rare skeletal disorder
Hereditary multiple osteochondromas
Other namesHereditary multiple exostoses
Photograph of the legs of a 26-year-old male showing multiple lumps leading to deformity.
SpecialtyMedical genetics
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas. Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence.[1][2] A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas. The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals.[3] Hereditary multiple osteochondromas is the preferred term used by the World Health Organization.
## Contents
* 1 Presentation
* 1.1 Possible connection to autism
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 Epidemiology
* 7 Additional images
* 8 References
* 9 External links
## Presentation[edit]
A noticeable lump in relation to an extremity may be the first presenting symptom. Multiple deformities can arise, namely coronal plane deformities around the knees, ankles, shoulders, elbows, and wrists. For example, genu valgum (knock knees), ankle valgus, ulnar bowing and shortening, and radial head subluxation are encountered. The majority of affected individuals have clinically manifest osteochondromas around the knee. Forearm involvement in HMO is considerable.[1][4] Furthermore, short stature may occur and is generally disproportionate. Such manifestations usually result from disruption of physeal growth especially that osteochondromas typically arise at the metaphyseal ends of long bones in close proximity to the physis.[1][4] Intra-articular osteochondromas of the hip can induce limitation of range of motion, joint pain and acetabular dysplasia.[2] Likewise joint pain at other locations and neurovascular compression can occur. Furthermore, functional disability in regard to activities of daily living can be a presenting feature. Spinal deformity pain or neurological compromise should arouse suspicion of involvement of the vertebrae.[3]
### Possible connection to autism[edit]
Some parents of children with HME have observed autism-like social problems in their children. To explore those observations more deeply, a 2012 study by the Sanford-Burnham Medical Research Institute used a mouse model of HME to observe cognitive function. The findings indicated that the mutant mice endorsed three autistic characteristics: social impairment, impairments in ultrasonic vocalization, and repetitive behavior.[5]
## Genetics[edit]
HME is an autosomal dominant hereditary disorder. This means that a patient with HME has a 50% chance of transmitting this disorder to his or her children. Most individuals with HME have a parent who also has the condition, however, approximately 10% -20% of individuals with HME have the condition as a result of a spontaneous mutation and are thus the first person in their family to be affected.[citation needed]
HME has thus far been linked with mutations in three genes:
* EXT1 which maps to chromosome 8q24.1[6]
* EXT2 which maps to 11p13[7]
* EXT3 which maps to the short arm of Chromosome 19 (though its exact location has yet to be precisely determined)[8]
Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally. It is known that EXT proteins are important enzymes in the synthesis of heparan sulfate; however the exact mechanism by which altered synthesis of heparan sulfate that could lead to the abnormal bone growth associated with HME is unclear. It is thought that normal chondrocyte proliferation and differentiation may be affected, leading to abnormal bone growth.[9][10] Since the HME genes are involved in the synthesis of a glycan (heparan sulfate), HME may be considered a congenital disorder of glycosylation according to the new CDG nomenclature suggested in 2009.[11]
For individuals with HME who are considering starting a family, preimplantation genetic testing and prenatal diagnosis are available to determine if their unborn child has inherited the disease. HME has a 96% penetrance, which means that if the affected gene is indeed transmitted to a child, the child will have a 96% of actually manifesting the disease, and 4% chance of having the disease but never manifesting it. The 96% penetrance figure comes from only one study.[12] Other studies have observed both incomplete and variable penetrance but without calculating the % penetrance, e.g.[13] In both the aforementioned studies the symptomless individuals carrying the faulty gene were predominantly female, leading to speculation that incomplete penetrance is more likely to be exhibited in females. Indeed, other work has shown that boys/men tend to have worse disease than females, as well as that the number of exostoses in affected members of the same family can vary greatly.[14] It is also possible for females to be severely affected. Severity of symptoms varies between individuals, even in the same family.
Symptoms are more likely to be severe if the mutation is on the ext1 gene rather than ext2 or ext3; ext1 is also the most commonly affected gene in patients of this disorder.[14]
## Pathophysiology[edit]
It is characterized by the growth of cartilage-capped benign bone tumours around areas of active bone growth, particularly the metaphysis of the long bones. Typically five or six exostoses are found in upper and lower limbs. Most common locations are:[15]
* Distal femur (70%)
* Proximal tibia (70%)
* Humerus (50%)
* Proximal fibula (30%)
HME can lead to the shortening and bowing of bones; affected individuals often have a short stature. Depending on their location the exostoses can cause the following problems: pain or numbness from nerve compression, vascular compromise, inequality of limb length, irritation of tendon and muscle, Madelung's deformity[16] as well as a limited range of motion at the joints upon which they encroach. A person with HME has an increased risk of developing a rare form of bone cancer called chondrosarcoma as an adult.[16] Problems may be had in later life and these could include weak bones and nerve damage.[17][18][19] The reported rate of transformation ranges from as low as 0.57%[12] to as high as 8.3% of people with HME.[20]
## Diagnosis[edit]
The diagnosis of HMO is based upon establishing an accurate correlation between the above-mentioned clinical features and the characteristic radiographic features. Family history can provide an important clue to the diagnosis. This is supplemented by testing for the two genes in which pathogenic variants are known to cause HMO namely EXT1 and EXT2. A combination of sequence analysis and deletion analysis of the entire coding regions of both EXT1 and EXT2 detects pathogenic variants in 70–95% of affected individuals.[3][4] The hallmark of radiographic diagnosis is the presence of osteochondromas at the metaphyseal ends of long bones in which the cortex and medulla of the osteochondroma represent a continuous extension of the host bone. This is readily demonstrable in radiographs of the knees.[3][1]
## Treatment[edit]
The indications for surgical intervention in individuals with HMO remain unclear and vary greatly across the medical literature. In general surgical treatment of HMO includes one or more of the following procedures: ostechondroma excision, gradual or acute bone lengthening such as the ulna lengthening, corrective osteotomies, temporary hemiepiphysiodesis to correct angular joint deformities such as distal radius hemiepiphysiodesis and medial distal tibial hemiepiphysiodesis.[1][3] Nevertheless, there is little evidence to support the ongoing pediatric orthopedic practice in hereditary multiple osteochondromas. Recent systematic reviews found insufficient evidence to prove that the ongoing surgical treatment of HMO improves function considerably or to prove that it impacts the quality of life of affected children.[1][2] To enhance the amount of evidence in the medical literature certain recommendations have been put forward. The construction of well-designed prospective studies that can provide a more clear relationship between surgical procedures, patient characteristics and outcomes is on high demand. Otherwise, following the current study designs will continue to raise more questions than answers.[1][2] Total hip arthroplasty has been used to remedy severe and painful HMO of the hip joint. Total hip arthroplasty in individuals with HMO is challenging because of distortion of anatomy and repeated surgeries performed to address complaints related to exostosis.[21]
## Epidemiology[edit]
HME is estimated to occur in 1 in 50,000 people.[15][19]
## Additional images[edit]
* Multiple osteochondromas causing deformity of the forearm (shortening of the Radius with secondary bowing of the Ulna).
* multiple osteochondromas at the pelvis
* multiple osteochondromas around the knee
* CT of osteochondroma in MO
## References[edit]
1. ^ a b c d e f g EL-Sobky, TA; Samir, S; Atiyya, AN; Mahmoud, S; Aly, AS; Soliman, R (21 March 2018). "Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review". Sicot-J. 4: 10. doi:10.1051/sicotj/2018002. PMC 5863686. PMID 29565244.
2. ^ a b c d Makhdom, AM; Jiang, F; Hamdy, RC; Benaroch, TE; Lavigne, M; Saran, N (20 May 2014). "Hip joint osteochondroma: systematic review of the literature and report of three further cases". Advances in Orthopedics. 2014: 180254. doi:10.1155/2014/180254. PMC 4054980. PMID 24963411.
3. ^ a b c d e Wuyts, W; Schmale, GA; Chansky, HA; et al. (21 November 2013). "Hereditary Multiple Osteochondromas". GeneReviews. University of Washington, Seattle. Retrieved 24 March 2018.
4. ^ a b c Alvarez, CM; De Vera, MA; Heslip, TR; Casey, B (September 2007). "Evaluation of the anatomic burden of patients with hereditary multiple exostoses". Clin Orthop Relat Res. 462: 73–79. doi:10.1097/BLO.0b013e3181334b51. PMID 17589361. S2CID 39999620.
5. ^ Irie F, Badie-Mahdavi H, Yamaguchi Y (March 2012). "Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate". Proceedings of the National Academy of Sciences of the United States of America. 109 (13): 5052–6. Bibcode:2012PNAS..109.5052I. doi:10.1073/pnas.1117881109. PMC 3323986. PMID 22411800.
6. ^ Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G (1993). "Genetic heterogeneity in families with hereditary multiple exostoses". American Journal of Human Genetics. 53 (1): 71–9. PMC 1682231. PMID 8317501.
7. ^ Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ (1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Human Molecular Genetics. 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019.
8. ^ Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P (1994). "A gene for hereditary multiple exostoses maps to chromosome 19p". Human Molecular Genetics. 3 (5): 717–22. CiteSeerX 10.1.1.1028.5356. doi:10.1093/hmg/3.5.717. PMID 8081357.
9. ^ Zak BM, Crawford BE, Esko JD (2002). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochimica et Biophysica Acta (BBA) - General Subjects. 1573 (3): 346–55. doi:10.1016/S0304-4165(02)00402-6. PMID 12417417.
10. ^ Stieber JR, Dormans JP (2005). "Manifestations of hereditary multiple exostoses". The Journal of the American Academy of Orthopaedic Surgeons. 13 (2): 110–20. doi:10.5435/00124635-200503000-00004. PMID 15850368. S2CID 29077708.
11. ^ Jaeken J, Hennet T, Matthijs G, Freeze HH (2009). "CDG nomenclature: time for a change!". Biochim. Biophys. Acta. 1792 (9): 825–6. doi:10.1016/j.bbadis.2009.08.005. PMC 3917312. PMID 19765534.
12. ^ a b Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M (July 1997). "Incomplete penetrance and expressivity skewing in hereditary multiple exostoses". Clinical Genetics. 52 (1): 12–6. doi:10.1111/j.1399-0004.1997.tb02508.x. PMID 9272707.
13. ^ Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al. (August 2004). "Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)". Clinical Genetics. 66 (2): 144–51. doi:10.1111/j.1399-0004.2004.00275.x. PMID 15253765.
14. ^ a b Porter DE, Lonie L, Fraser M, et al. (September 2004). "Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study". The Journal of Bone and Joint Surgery. British Volume. 86 (7): 1041–6. doi:10.1302/0301-620x.86b7.14815. hdl:20.500.11820/8754788e-ceea-4613-8e65-60d34fcf9edc. PMID 15446535.[permanent dead link]
15. ^ a b Turek's orthopaedics principles and their application (6th ed.). Philadelphia: Lippincott Williams & Wilkins. 2005. p. 263. ISBN 9780781742986.
16. ^ a b Davies, A. Mark; Pettersson, Holger (2002). Pettersson, Holger; Ostensen, Harald (eds.). Radiography of the Musculoskeletal System (PDF). Geneva: World Health Organization. pp. 177, 189. ISBN 978-92-4-154555-6.
17. ^ CANNON JF (1954). "Hereditary multiple exostoses". American Journal of Human Genetics. 6 (4): 419–25. PMC 1716573. PMID 14349947.
18. ^ McBride WZ (September 1988). "Hereditary multiple exostoses". American Family Physician. 38 (3): 191–2. PMID 3046271.
19. ^ a b Schmale GA, Conrad EU, Raskind WH (July 1994). "The natural history of hereditary multiple exostoses". The Journal of Bone and Joint Surgery. American Volume. 76 (7): 986–92. doi:10.2106/00004623-199407000-00005. PMID 8027127. Archived from the original on 2014-09-20.
20. ^ Kivioja A, Ervasti H, Kinnunen J, Kaitila I, Wolf M, Böhling T (March 2000). "Chondrosarcoma in a family with multiple hereditary exostoses". The Journal of Bone and Joint Surgery. British Volume. 82 (2): 261–6. doi:10.1302/0301-620X.82B2.0820261. PMID 10755438.[permanent dead link]
21. ^ Vaishya, R; Swami, S; Vijay, V; Vaish, A (5 Jan 2015). "Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses". BMJ Case Rep. 2015: bcr2014207853. doi:10.1136/bcr-2014-207853. PMC 4289752. PMID 25564594.
## External links[edit]
* GeneReviews: Hereditary Multiple Exostoses
Classification
D
* ICD-10: Q78.6
* ICD-9-CM: 756.59
* OMIM: 133700 133701
* MeSH: D005097
* DiseasesDB: 33342
External resources
* Patient UK: Hereditary multiple exostoses
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Mucopolysaccharidoses)
Catabolism
* MPS I
* Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
* MPS II: Hunter Syndrome
* MPS III: Sanfilippo Syndrome
* MPS IV: Morquio Syndrome
* MPS VI: Maroteaux-Lamy Syndrome
* MPS VII: Sly Syndrome
* MPS IX: Hyaluronidase deficiency
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Hereditary multiple exostoses
|
c0206641
| 25,977 |
wikipedia
|
https://en.wikipedia.org/wiki/Hereditary_multiple_exostoses
| 2021-01-18T19:06:54 |
{"gard": ["7035"], "mesh": ["D005097", "D018216"], "umls": ["C0206641"], "icd-9": ["756.59"], "orphanet": ["321"], "wikidata": ["Q1952467"]}
|
A number sign (#) is used with this entry because of evidence that craniosynostosis-2 (CRS2) is caused by heterozygous mutation in the MSX2 gene (123101) on chromosome 5q35.
Description
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Clinical Features
Warman et al. (1993) studied a 3-generation American family of English extraction (referred to by Li et al. (1993) as the Boston family) in which craniosynostosis was segregating in 19 individuals. Although penetrance appeared to be complete, expression varied considerably. Cranial involvement was mild in the grandmother and generally more severe in her affected children and grandchildren. Skull malformations included forehead retrusion, frontal bossing, turribrachycephaly, and the Kleeblattschaedel deformity (cloverleaf skull anomaly; trilobular skull with craniosynostosis). Most affected individuals were myopic or hyperopic and several affected members suffered from severe headaches. Four had a seizure disorder. Intelligence was normal. No hand or foot abnormalities were noted on inspection; radiographic examination in 4 affected individuals demonstrated only short first metatarsals in 3. Muller et al. (1993) emphasized the consistent finding of recession of the supraorbital region in relation to the anterior surface of the cornea.
Florisson et al. (2013) reported a 4-generation Bosnian family segregating autosomal dominant multiple-suture craniosynostosis, with 12 affected individuals. Each patient had a distinct skull phenotype, but all had craniosynostosis, variably associated with hypotelorism, forehead retrusion, and/or hand abnormalities. The proband presented at 5 months of age with turricephaly, narrow forehead, downslanting palpebral fissures, and hypotelorism. CT scan showed bilateral coronal synostosis, metopic synostosis, and wormian bones. His fingers were short and broad, but there were no bony abnormalities on x-ray. He underwent frontosupraorbital advancement at age 6 months; at 5 years of age he had normal neurologic development. The proband's 47-year-old father had metopic craniosynostosis resulting in trigonocephaly and hypotelorism, but never underwent surgery; he also had short fingers with normal shape, which x-rays showed was due to shortening of all phalanges. A 22-year-old female cousin had complex craniosynostosis for which she underwent surgery in the first year of life; skull remodeling was later performed due to retrusion of the forehead. She also had short fingers, primarily due to shortening of the distal phalanges, and both thumbs had a supination position. Her 17-year-old brother had mild dolichocephaly and had not undergone surgery; he had normal development without any other anomalies. Other affected family members included the proband's 2 paternal aunts, who had brachycephaly due to premature closure of the coronal sutures with elevation of the sphenoid wings on x-ray; both also exhibited generalized copper-beaten appearance, suggestive of elevated intracranial pressure. The paternal grandfather had unilateral coronal suture synostosis and a bony defect in the area of the anterior fontanel; his brother was known to have turricephaly but declined to participate in the study.
Mapping
In a family linkage study using short tandem repeat polymorphisms (STRPs) (Weber and May, 1989), Muller et al. (1993) demonstrated that the gene for the disorder in the Boston family is located on 5q. With D5S211, located at 5q34-qter (Weber et al., 1991), they obtained a maximum lod score of 4.8 at a recombination fraction of 0. No linkage was found in this family to markers on chromosome 7 where a gene for the Saethre-Chotzen syndrome (101400) has been mapped. Supporting the assignment of a locus for a form of craniosynostosis to 5q was the observation of craniosynostosis in an infant with partial trisomy of distal 5q (Van der Burgt et al., 1992).
In a 4-generation Bosnian family segregating autosomal dominant multiple-suture craniosynostosis, Florisson et al. (2013) performed multipoint linkage analysis and obtained 4 linkage peaks with maximum lod scores between 2 and 2.5, including a 5.9-Mb interval on chromosome 5q35.
Molecular Genetics
To determine whether expression of the MXS2 gene, which maps to the same region of chromosome 5 as craniosynostosis-2, is consistent with its being a candidate gene for the phenotype, Li et al. (1993) demonstrated by in situ hybridization that mouse Msx2 transcripts are present in osteoblasts adjacent to calvarial sutures during mouse embryonic and postnatal development. In addition, Li et al. (1993) found that a (CA)n polymorphism within the MSX2 gene segregated with craniosynostosis in the Boston family studied by Warman et al. (1993) and Muller et al. (1993); no recombination was observed, giving a maximum lod score of 4.80. All affected members were found to have substitution of histidine for proline at amino acid position 7 of the homeodomain (P148H; 123101.0001); the mutation was absent in all unaffected members of the family and 68 controls. This proline residue is conserved in all known MSX genes in organisms as diverse as insects and mammals. Li et al. (1993) claimed that this was the first report of a mutation in a homeobox gene associated with a human disorder. See Jabs et al. (1993) for the full report. This is a good example of identification of the defect in a disorder by the candidate gene approach.
In 7 affected members of a 4-generation Bosnian family segregating autosomal dominant multiple-suture craniosynostosis, Florisson et al. (2013) identified heterozygosity for a pro148-to-leu mutation (P148L; 123101.0009) in the MSX2 gene. The mutation altered the same proline as that identified by Li et al. (1993) in the Boston family with CRS2. The proband and his father, who were the only patients to manifest osteopoikilosis (see 166700), were also heterozygous for a deletion in the LEMD3 gene (607844). The LEMD3 mutation appeared to have arisen de novo in the father, and the presence of osteopoikilosis in the 2 patients was considered to be a coincidental anomaly unrelated to the craniosynostosis phenotype.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Craniosynostosis \- Brachycephaly \- Turricephaly \- Turribrachycephaly \- Dolicocephaly \- Trigonocephaly \- Kleeblattschaedel deformity (clover-leaf skull anomaly trilobular skull with craniosynostosis) Face \- Forehead retrusion (in some patients) \- Frontal bossing Eyes \- Hypotelorism (in some patients) \- Myopia (in some patients) \- Hyperopia (in some patients) \- Visual field defects (rare) \- Myopia/hyperopia Mouth \- Cleft soft palate (rare) Teeth \- Supernumerary teeth (rare) SKELETAL Skull \- Recession of supraorbital rim \- Trilobular skull with craniosynostosis \- Bicoronal synostosis \- Unilateral coronal suture synostosis \- Metopic suture synostosis \- Beaten-copper appearance (in some patients) \- Defect of anterior fontanel (in some patients) \- Complex craniosynostosis (rare) Hands \- Brachydactyly (in some patients) \- Triphalangeal thumb (rare) \- Supination position of thumb (rare) Feet \- Short first metatarsals (in some patients) NEUROLOGIC Central Nervous System \- Normal intelligence \- Headaches, severe (in some patients) \- Seizures (in some patients) MISCELLANEOUS \- Highly variable intrafamilial expression MOLECULAR BASIS \- Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0001 ) ▲ 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
|
CRANIOSYNOSTOSIS 2
|
c1858160
| 25,978 |
omim
|
https://www.omim.org/entry/604757
| 2019-09-22T16:11:50 |
{"doid": ["2340"], "mesh": ["C565753"], "omim": ["604757"], "orphanet": ["1541"], "synonyms": ["Alternative titles", "Warman-Mulliken-Hayward syndrome", "Craniosynostosis, Warman type", "CRANIOSYNOSTOSIS, BOSTON-TYPE"]}
|
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is caused by homozygous or compound heterozygous mutation in the ZNF142 gene (604083) on chromosome 2q35.
Description
Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019).
Clinical Features
Khan et al. (2019) reported 7 patients from 4 unrelated families with NEDISHM. The patients ranged in age from 10 to 35 years. Two families were consanguineous, of Turkish (family B) and Pakistani (family C) origin. All patients presented with global developmental delay in infancy, and most had mildly delayed walking by 2 years of age, although 1 child from family B never achieved walking and was wheelchair-bound. The patients had moderately to severely impaired intellectual development (IQ range, 40-78) with speech delay and dysarthria and/or impaired language initiation and expression. One patient (family B) was nonverbal, and another (family D) was diagnosed with childhood apraxia of speech. At least 2 patients were able to attend school. Most patients had variable involuntary hyperkinetic movements, including segmental dystonia affecting the neck (torticollis), face, and upper limbs, as well as tremor, ataxia, chorea, spastic diplegia, and hyperreflexia. The dystonia became generalized in the patient from family B, who had the most severe phenotype. Five patients had seizures, although 2 had only 1 generalized tonic-clonic seizure around 1 to 2 years of age. The other 3 patients had earlier onset of tonic-clonic seizures that tended to abate or responded to medication. Four patients had dolichocephaly. Brain MRI, performed in 2 patients, showed nonspecific hyperintensities and thin corpus callosum. In family C, a presumably affected sib had died of seizures at age 9 years.
Inheritance
The transmission pattern of NEDISHM in the families reported by Khan et al. (2019) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 7 patients from 4 unrelated families with NEDISHM, Khan et al. (2019) identified homozygous or compound heterozygous mutations in the ZNF142 gene (604083.0001-604083.0006). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Four of the 6 mutations identified were frameshift or nonsense, consistent with a loss of function. Functional studies of the variants and studies of patient cells were not performed, although Khan et al. (2019) noted that mutations in similar zinc finger family genes have been identified in patients with neurodevelopmental disorders.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Dolichocephaly Face \- Facial dyskinesia Neck \- Torticollis NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired intellectual development (IQ range 40 to 78) \- Mildly delayed walking \- Unstable gait \- Speech delay \- Poor or absent speech \- Expressive language difficulties \- Hyperkinetic movements \- Dystonia \- Tremor \- Ataxia \- Chorea \- Seizures, tonic-clonic (in some patients) \- Nonspecific brain changes (in some patients) MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the zinc finger protein 142 gene (ZNF142, 604083.0001 ) ▲ 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
|
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
|
None
| 25,979 |
omim
|
https://www.omim.org/entry/618425
| 2019-09-22T15:41:59 |
{"omim": ["618425"]}
|
Nuchal cord
Baby in the uterus with umbilical cord wrapped around its neck and arm
Pronunciation
* /ˈnʲu.kəl/
SpecialtyObstetrics, pediatrics
SymptomsDuskiness of face, facial petechia, bleeding in the whites of the eye[1]
ComplicationsMeconium, respiratory distress, anemia, stillbirth[1]
Diagnostic methodSuspect based on in the babies heart rate during labor, ultrasound[1]
Differential diagnosisBirth asphyxia[1]
TreatmentUnwrapping the cord during delivery or if this is not possible clamping and cutting the cord[2]
PrognosisUsually good[1]
Frequency25% of deliveries[2]
A nuchal cord is when the umbilical cord becomes wrapped around the fetus's neck.[1] Symptoms present in the baby shortly after birth from a prior nuchal cord may include duskiness of face, facial petechia, and bleeding in the whites of the eye.[1] Complications can include meconium, respiratory distress, anemia, and stillbirth.[1] Multiple wraps are associated with greater risk.[3]
The diagnosis may be suspected if there is a decrease in the baby's heart rate during delivery.[1] Nuchal cords are typically checked for by running the finger over the baby's neck once the head has delivered.[4] Ultrasound may pick up the condition before labor.[1]
If detected during delivery, management includes trying to unwrap the cord or if this is not possible clamping and cutting the cord.[2] Delivery can typically take place as normal and outcomes are generally good.[5][1] Rarely long term brain damage or cerebral palsy may occur.[1][6] Nuchal cords occur in about a quarter of deliveries.[2] The condition has been described at least as early as 300 BC by Hippocrates.[1]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Prognosis
* 5 References
* 6 External links
## Signs and symptoms[edit]
Symptoms of a prior nuchal cord shortly after birth in the baby may include duskiness of face, facial petechia, and bleeding in the whites of the eye.[1] Complications can include meconium, respiratory disease, anemia, and still birth.[1]
* Petechiae and subconjunctival bleeding due to tight nuchal cord
* Petechiae on face due to tight nuchal cord
* Facial duskiness due to tight nuchal cord
* Abrasion from a nuchal cord
## Diagnosis[edit]
Doppler ultrasound showing a nuchal cord
In 1962, J. Selwyn Crawford MD from the British Research Council defined a nuchal cord as one that is wrapped 360 degrees around the fetal neck. Crawford commented "It is all the more remarkable, therefore, that little work has been done. to analyze its effects during labor and delivery".[citation needed] To date, there is no prospective case control double-blind study looking at nuchal cords and observational studies vary in opinion as to the degree of poor outcomes. Also not included in these studies is which umbilical cord form (of the 8 different possible structures) was considered a nuchal cord.[citation needed]
Ultrasound diagnosis of a cord around the neck was first described in 1982.[7] “Coils occur in about 25% of cases and ordinarily do no harm, but occasionally they may be so tight that constriction of the umbilical vessels and consequent hypoxia result.”[citation needed] Williams Obstetrics 16th Edition, has only one single sentence in the entire textbook regarding cords around the neck.[8] By contrast, the First Edition of the Encyclopædia Britannica from 1770 had 20 pages of information about Umbilical Cord Pathology with drawings of Umbilical Cord Entanglement. The Royal College of Obstetricians and Gynaecologists has these images on its brochure. There are currently three recent texts on ultrasonography which demonstrate the ability of ultrasound to identify umbilical cord issues with reliability as of 2009.[citation needed]
A study published in 2004 was done to establish the sensitivity of ultrasound in the diagnosis of a nuchal cord. Each of 289 women, induced the same day, underwent a transabdominal ultrasound scan with an Aloka 1700 ultrasound machine with a 3.5 MHz abdominal probe, using gray-scale and color Doppler imaging immediately prior to induction of labor. Presence of the cord was sought in the transverse and sagittal plane of the neck. A nuchal cord was diagnosed if the cord was visualized lying around at least 3 of the 4 sides of the neck. A cord was actually present at delivery in 52 of the 289 women. Only 18 of the 52 cords or 35% of the nuchal cords were detected on ultrasound done immediately before delivery, and 65% of nuchal cords were not detected. Of the 237 cases where there was no cord at delivery, ultrasound had false positive results, i.e. diagnosed a cord in 44 of the 237 cases (19%) in which there was no cord present at all. In this study, ultrasound was only 35% accurate at finding a single loop, and only 60% accurate at detecting a nuchal cord wrapped multiple times around the neck.[9]
In no study was it possible by ultrasound to distinguish between a loose or a tight cord, although at least 3 attempted to do so.[citation needed] Peregrine[9] concludes that ultrasound diagnosis of nuchal cords will only be useful if doctors are able to do so reliably and predict which of those fetuses are likely to have a problem., However, perinatologists routinely look for umbilical cord issues in monoamniotic twins. Studies have shown an improvement in outcomes where cord entanglement was prenatally identified in these cases. Ultrasound measurement of the velocity of flow in the cord may be useful in the management of twins and chronically growth-retarded fetuses. Of course this depends on the training of the sonographer. To date there are no ultrasound courses which teach the identification of nuchal cord to physicians or technicians. A recent review by Wilson of the American Academy of Ultrasonography Technicians recommends the documentation of umbilical cord issues.[10]
### Classification[edit]
* A "Type A" nuchal cord is wrapped around the neck but is free sliding[1]
* A "Type B" pattern is described as a hitch which cannot be undone and ends up as a true knot.[11]
* Nuchal cord - free sliding[1]
* Nuchal cord - locked pattern[1]
## Treatment[edit]
Management of a presenting nuchal cord should be tailored to prevent umbilical cord compression whenever possible. Techniques to preserve an intact nuchal cord depend on how tightly the cord is wrapped around the infant’s neck. If the cord is loose, it can easily be slipped over the infant’s head. The infant can be delivered normally and placed on maternal abdomen as desired. If the cord is too tight to go over the infant’s head, the provider may be able to slip it over the infant’s shoulders and deliver the body through the cord. The cord can then be unwrapped from around the baby after birth. Finally, if the cord is too tight to slip back over the shoulders, one may use the somersault maneuver to allow the body to be delivered.[12] The birth attendant may also choose to clamp and cut the umbilical cord to allow for vaginal delivery if other methods of nuchal cord management are not feasible.
## Prognosis[edit]
Retrospective data of over 182,000 births, with the statistical power to determine even mild associations, suggest that a single or multiple nuchal cords at the time of delivery is not associated with adverse perinatal outcomes, is associated with higher birthweights and fewer caesarean sections in births.[13][14][15] Although some studies have found that a tight nuchal cord is associated with short term morbidity, it is unclear whether such outcomes are actually a result of the presence of the nuchal cord itself, or as a result of clamping and cutting the cord [16]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r Peesay M (6 December 2017). "Nuchal cord and its implications". Maternal Health, Neonatology and Perinatology. 3 (1): 28. doi:10.1186/s40748-017-0068-7. PMC 5719938. PMID 29234502.
2. ^ a b c d "Nuchal Cord". Merck Manuals Consumer Version. June 2018. Retrieved 2 October 2018.
3. ^ Hasegawa J, Matsuoka R, Ichizuka K, Sekizawa A, Okai T (March 2009). "Ultrasound diagnosis and management of umbilical cord abnormalities". Taiwanese Journal of Obstetrics & Gynecology. 48 (1): 23–7. doi:10.1016/S1028-4559(09)60031-0. PMID 19346188.
4. ^ Ferri FF (2014). Ferri's Clinical Advisor 2015 E-Book: 5 Books in 1. Elsevier Health Sciences. p. e23. ISBN 9780323084307.
5. ^ Adams JG (2012). Emergency Medicine E-Book: Clinical Essentials (Expert Consult -- Online). Elsevier Health Sciences. p. 1064. ISBN 978-1455733941.
6. ^ MacLennan AH, Thompson SC, Gecz J (December 2015). "Cerebral palsy: causes, pathways, and the role of genetic variants" (PDF). American Journal of Obstetrics and Gynecology. 213 (6): 779–88. doi:10.1016/j.ajog.2015.05.034. PMID 26003063.
7. ^ Jouppila P, Kirkinen P (February 1982). "Ultrasonic diagnosis of nuchal encirclement by the umbilical cord: a case and methodological report". Journal of Clinical Ultrasound. 10 (2): 59–62. doi:10.1002/jcu.1870100205. PMID 6804502.
8. ^ Williams JW (1980). Williams Obstetrics 16th Edition. Appleton & Lange, US. pp. 421. ISBN 978-0838597316.
9. ^ a b Peregrine E, O'Brien P, Jauniaux E (February 2005). "Ultrasound detection of nuchal cord prior to labor induction and the risk of Cesarean section". Ultrasound in Obstetrics & Gynecology. 25 (2): 160–4. doi:10.1097/01.ogx.0000172319.27668.34. PMID 15543520.
10. ^ Wilson B (March–April 2008). "Sonography of the Placenta And Umbilical Cord". Radiologic Technology. 79: 333S–345S. Retrieved December 26, 2017.
11. ^ Collins JH (February 2002). "Umbilical cord accidents: human studies". Seminars in Perinatology. 26 (1): 79–82. doi:10.1053/sper.2002.29860. PMID 11876571.
12. ^ Reynolds L (March 1999). "Practice tips. "Somersault" maneuver for a tight umbilical cord". Canadian Family Physician. 45: 613. PMC 2328444. PMID 10099799.
13. ^ Mastrobattista JM, Hollier LM, Yeomans ER, Ramin SM, Day MC, Sosa A, Gilstrap LC (February 2005). "Effects of nuchal cord on birthweight and immediate neonatal outcomes". American Journal of Perinatology. 22 (2): 83–5. doi:10.1055/s-2005-837737. PMID 15731986.
14. ^ Schäffer L, Burkhardt T, Zimmermann R, Kurmanavicius J (July 2005). "Nuchal cords in term and postterm deliveries--do we need to know?". Obstetrics and Gynecology. 106 (1): 23–8. doi:10.1097/01.AOG.0000165322.42051.0f. PMID 15994613. S2CID 33991885.
15. ^ Sheiner E, Abramowicz JS, Levy A, Silberstein T, Mazor M, Hershkovitz R (May 2006). "Nuchal cord is not associated with adverse perinatal outcome". Archives of Gynecology and Obstetrics. 274 (2): 81–3. doi:10.1007/s00404-005-0110-2. PMID 16374604. S2CID 31359895.
16. ^ Reed R, Barnes M, Allan J (February 2009). "Nuchal cords: sharing the evidence with parents". British Journal of Midwifery. 17 (2): 106–109. doi:10.12968/bjom.2009.17.2.39379.
## External links[edit]
Classification
D
* ICD-10: O69.1, P02.5
* ICD-9-CM: 762.5
* MeSH: D053589
* 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
|
Nuchal cord
|
c0405124
| 25,980 |
wikipedia
|
https://en.wikipedia.org/wiki/Nuchal_cord
| 2021-01-18T18:33:22 |
{"mesh": ["D053589"], "umls": ["C0405124"], "icd-9": ["762.5"], "icd-10": ["P02.5", "O69.1"], "wikidata": ["Q1961969"]}
|
Schmidt et al. (1970) concluded that the disorder they observed in 2 daughters of a Sephardic uncle-niece marriage was a disorder distinct from familial dysautonomia, which, of course, occurs mainly in Ashkenazim. In these patients mental retardation and normal taste, fungiform papillae, histamine test, and urinary VMA excretion differentiate the condition. See neuropathy, congenital sensory, with anhidrosis (256800), another dysautonomia-like condition.
HEENT \- Normal taste \- Normal fungiform papillae Neuro \- Autonomic neuropathy \- Mental retardation Lab \- Normal histamine test \- Normal urinary VMA excretion 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
|
DYSAUTONOMIA-LIKE DISORDER
|
c1857153
| 25,981 |
omim
|
https://www.omim.org/entry/224000
| 2019-09-22T16:28:38 |
{"mesh": ["C535728"], "omim": ["224000"]}
|
Condition in which organs fall down or slip out of place
For the British musical group, see Prolapse (band).
This article relies too much on references to primary sources. Please improve this by adding secondary or tertiary sources. (November 2009) (Learn how and when to remove this template message)
In medicine, prolapse is a condition in which organs fall down or slip out of place. It is used for organs protruding through the vagina, rectum, or for the misalignment of the valves of the heart. A spinal disc herniation is also sometimes called "disc prolapse". Prolapse means "to fall out of place", from the Latin prolabi meaning "to fall out".
Relating to the uterus, prolapse condition results in an inferior extension of the organ into the vagina, caused by weakened pelvic muscles.
## Contents
* 1 Humans
* 1.1 Heart valve prolapse
* 1.2 Rectal prolapse
* 1.3 Female genital prolapse
* 1.4 Pelvic floor prolapse
* 1.5 Umbilical cord prolapse
* 2 Other species
* 2.1 Birds
* 2.2 Cattle
* 2.3 Sheep
* 2.4 Pigs
* 2.5 Horses and mules
* 3 References
* 4 External links
## Humans[edit]
### Heart valve prolapse[edit]
Further information: Mitral valve prolapse
The main type of prolapse of heart valves in humans is mitral valve prolapse (MVP), which is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole.
Tricuspid valve prolapse can cause tricuspid regurgitation.[1]
### Rectal prolapse[edit]
Rectal prolapse is a condition in which part of the wall or the entire wall of the rectum falls out of place. Rectal prolapse can be a medical emergency. In some cases, the rectum may protrude.
Symptoms of a rectal prolapse may be:
* Leakage of stool
* Bleeding, anal pain, itching, irritation
* Tissue that protrudes from the rectum
A surgeon may operate through the abdomen to secure part of the large intestine or rectum to the inside of the abdominal cavity (rectopexy). Sometimes the surgeon removes the affected part of the intestine.
Surgery also can be done through the perineum (the area between the genitals and the anus) to remove the prolapsing tissue.
Surgery is most often successful for people who still have some control over their bowel movements. If the anal sphincter is damaged, surgery may correct the prolapse but not be able to completely correct fecal incontinence (lack of control of bowel movements). Fecal incontinence can both potentially improve or deteriorate after prolapse surgery.
If the lining has fallen out of the anus and is around 7 cm or less, it should eventually retract back inside naturally, though the retraction can take up to four days.
### Female genital prolapse[edit]
Further information: Uterine prolapse and Pelvic organ prolapse
Uterine prolapse (or Pelvic organ prolapse) occurs when the female pelvic organs fall from their normal position, into or through the vagina. Occurring in women of all ages, it is more common as women age, particularly in those who have delivered large babies or had exceedingly long pushing phases of labor. Smoking, obesity, connective tissue disorders, upper respiratory disorders‚ and repetitive strain injuries can all increase prolapse risk. Minor prolapse can be treated with exercises to strengthen the pelvic floor muscles (pelvic physiotherapy); more serious prolapse, e.g., complete procidentia, requires pessary use or reconstructive surgical treatment. Reconstructive pelvic prolapse surgery may be done without resorting to complete hysterectomy by hysteropexy,[2] the resuspension of the prolapsed uterus. Traditional gynecologic practice favors removal of the uterus or ovaries (or both) at the time of prolapse surgery, and one estimate states that of the 600,000 hysterectomies performed in the United States every year, 13 percent are for prolapse.[3] However, there is concern that many of these hysterectomies may be unnecessary and that hysteropexy would suffice as a treatment instead.
### Pelvic floor prolapse[edit]
The rectum or urinary bladder may prolapse as a result of changes in the integrity of connective tissue in the posterior or anterior vaginal walls, respectively, resulting in pelvic floor prolapse. Symptoms may include a feeling of pressure in the pelvis, or the visible protrusion of organs from the vagina. Prolapse is almost never painful, but the change in position of organs may cause urinary or bowel symptoms.
Pessaries are a treatment option for pelvic organ prolapse.[4]
### Umbilical cord prolapse[edit]
Further information: Umbilical cord prolapse
Umbilical cord prolapse occurs when the umbilical cord comes out of the uterus with or before the presenting part of the fetus. It is a relatively rare condition and occurs in fewer than 1% of pregnancies. Cord prolapse is more common in women who have had rupture of their amniotic sac. Other risk factors include maternal or fetal factors that prevent the fetus from occupying a normal position in the maternal pelvis, such as abnormal fetal lie, too much amniotic fluid, or a premature or small fetus. The concern with cord prolapse is that pressure on the cord from the fetus will cause cord compression that compromises blood flow to the fetus. Whenever there is a sudden decrease in fetal heart rate or abnormal fetal heart tracing, umbilical cord prolapse should be considered. Due to the possibility for fetal death and other complications, umbilical cord prolapse is considered an obstetric emergency during pregnancy or labor. Current management guidelines focus on quick delivery, which usually entails a cesarean section. With appropriate management, the majority of cases have good neonatal outcomes.
## Other species[edit]
### Birds[edit]
An egg-bound budgerigar hen with a prolapsed vagina and her mate
Oviduct prolapse is an often fatal condition in birds. When an egg is laid, the vagina everts through the cloaca to deliver the egg. Large eggs and avian obesity are contributors to this condition. Immediate veterinary assistance is paramount to the survival of a bird with prolapse. Even with immediate medical intervention the chances for survival are usually uncertain. Untreated birds will begin to tear at the injury site, and other flockmates will begin to cannibalize the prolapse area, a behaviour commonly known as pickout.
### Cattle[edit]
Prolapsed uterus in cattle, particularly dairy cattle, generally occurs in the first 12 hours post-calving.[citation needed] Frequent causes are hypocalcemia combined with irritation of the birth canal, causing straining. Replacement of the protrusion, which can range from the size of a softball to the hanging of the entire uterus down below the hocks, is performed with the cow in sternal recumbency, an epidural injection, and hindlimbs 'frogged' rearwards to allow the pelvis to tip forward, easing replacement.[citation needed] Careful washing and cleaning prior to replacement is important as is ensuring that the horns are completely everted once inside the cow. Often a Buhner suture is placed in the vulva to prevent subsequent reprolapse.
### Sheep[edit]
Same as in cows.[citation needed]
* with newborn lamb
* with afterbirth
* stained uterus (12 hours out)
* before re-positioning
### Pigs[edit]
Rectal prolapse is a condition routinely identified in pigs on farms and at slaughterhouses. If not reduced quickly, prolapses in pigs become necrotic and infected, and risk being cannibalized by other pen mates. If the latter happens it normally results in death of the animal by sepsis, shock or faecal peritonitis.
### Horses and mules[edit]
Rectal prolapse occurring in horse and mule would be better termed anal prolapse, as it only involves mucous membrane moving posteriorly to form a circular protrusion outside the anus [5] The condition is not painful.
In mares after parturition, it is described as a 10 to 60 mm mucous protrusion.[6]
In young mules and foals, anal prolapse occurs with a frequency similar to that of Gasterophilus haemorrhoidalis. In extensive breeding conditions, the disease is only recognized after some days, leading to intense edema of prolapsed tissues and necrosis of the mucous membrane.
Early cases in should be treated with the application of hygroscopic substances like powdered sugar followed by purse-string suturing. When prolapsed tissues are edematous and necrotic, amputation is performed. The prognosis is fair as the removed tissues do not contain any important organs or large blood vessels.
* on a mule
* on a foal
* submucosal edema
* Simple removal of prolapsed edematous tissues
## References[edit]
1. ^ Page 41 in: Elizabeth D Agabegi; Agabegi, Steven S. (2008). Step-Up to Medicine (Step-Up Series). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 978-0-7817-7153-5.
2. ^ Price N., Slack A., Jackson S. "Laparoscopic hysteropexy: the initial results of a uterine suspension procedure for uterovaginal prolapse." BJOG 2010;117:62–68. doi:10.1111/j.1471-0528.2009.02396. www.bjog.org
3. ^ "Vaginal rejuvenation: sounds great. What is it?". Beautycallbooks.com. Archived from the original on 2010-04-03. Retrieved 2009-12-14.
4. ^ American Urogynecologic Society (May 5, 2015), "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Urogynecologic Society, retrieved June 1, 2015, which cites:
* Culligan, PJ (April 2012). "Nonsurgical management of pelvic organ prolapse". Obstetrics and Gynecology. 119 (4): 852–60. doi:10.1097/aog.0b013e31824c0806. PMID 22433350.
* ACOG Committee on Practice, Bulletins--Gynecology (September 2007). "ACOG Practice Bulletin No. 85: Pelvic organ prolapse". Obstetrics and Gynecology. 110 (3): 717–29. doi:10.1097/01.aog.0000263925.97887.72. PMID 17766624..
5. ^ The Merck Veterinary Manual, 3rd ed.‚ Merck and co. Inc. Rahway, N.J., USA, 1967
6. ^ V.L. Tharp, in Cattcott E.J. & Smithcors J.F. Equine Medicine and Surgery, American Veterinary Publications Inc., 2nd ed 1972, French translation Vigot Frères, Paris, France, 1974, ISBN 2-7114-0653-9. OCLC 461509749.
## External links[edit]
* Media related to Pelvic prolapses at Wikimedia Commons
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Prolapse
|
c0042783
| 25,982 |
wikipedia
|
https://en.wikipedia.org/wiki/Prolapse
| 2021-01-18T18:53:55 |
{"mesh": ["D011391", "D014782"], "umls": ["C0042783"], "wikidata": ["Q2112703"]}
|
The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
## Epidemiology
The prevalence is approximately 1/40,000 as it accounts for about 25% of classic CAH cases.
## Clinical description
Girls present at birth with ambiguous genitalia and variable levels of virilization. They have a normal uterus but abnormal vaginal development. The external genitalia in boys are normal. Precocious pseudopuberty, manifesting with various symptoms including accelerated growth velocity and bone maturation, is also present in both sexes. Unlike the salt wasting form of classical 21 OHD CAH, the simple virilizing form has no symptoms of dehydration, but has a glucocorticoid deficiency requiring life-long substitution therapy and carrying a life-long risk of adrenal crisis.
## Etiology
The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3. As a result of this mutation, the synthesis of aldosterone is normal while the synthesis of cortisol is abolished. The adrenal glands are overstimulated and this leads to an overproduction of androgens.
## Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
|
None
| 25,983 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=315311
| 2021-01-23T17:39:35 |
{"icd-10": ["E25.0"], "synonyms": ["Classic 21-OHD CAH, simple virilizing form"]}
|
Blastomycosis-like pyoderma
Other namesPyoderma vegetans[1]
SpecialtyDermatology
Blastomycosis-like pyoderma is a cutaneous condition characterized by large verrucous plaques with elevated borders and multiple pustules.[2]:255,272
## See also[edit]
* List of cutaneous conditions
* pyoderma
* blastomycosis
## 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. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: L10.1 (ILDS L10.120)
External resources
* eMedicine: article/1055728
* v
* t
* e
Bacterial skin disease
Gram +ve
Firmicutes
* Staphylococcus
* Staphylococcal scalded skin syndrome
* Impetigo
* Toxic shock syndrome
* Streptococcus
* Impetigo
* Cutaneous group B streptococcal infection
* Streptococcal intertrigo
* Cutaneous Streptococcus iniae infection
* Erysipelas / Chronic recurrent erysipelas
* Scarlet fever
* Corynebacterium
* Erythrasma
* Listeriosis
* Clostridium
* Gas gangrene
* Dermatitis gangrenosa
* Mycoplasma
* Erysipeloid of Rosenbach
Actinobacteria
* Mycobacterium-related: Aquarium granuloma
* Borderline lepromatous leprosy
* Borderline leprosy
* Borderline tuberculoid leprosy
* Buruli ulcer
* Erythema induratum
* Histoid leprosy
* Lepromatous leprosy
* Leprosy
* Lichen scrofulosorum
* Lupus vulgaris
* Miliary tuberculosis
* Mycobacterium avium-intracellulare complex infection
* Mycobacterium haemophilum infection
* Mycobacterium kansasii infection
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Rapid growing mycobacterium infection
* Scrofuloderma
* Tuberculosis cutis orificialis
* Tuberculosis verrucosa cutis
* Tuberculous cellulitis
* Tuberculous gumma
* Tuberculoid leprosy
* Cutaneous actinomycosis
* Nocardiosis
* Cutaneous diphtheria infection
* Arcanobacterium haemolyticum infection
* Group JK corynebacterium sepsis
Gram -ve
Proteobacteria
* α: Endemic typhus
* Epidemic typhus
* Scrub typhus
* North Asian tick typhus
* Queensland tick typhus
* Flying squirrel typhus
* Trench fever
* Bacillary angiomatosis
* African tick bite fever
* American tick bite fever
* Rickettsia aeschlimannii infection
* Rickettsialpox
* Rocky Mountain spotted fever
* Human granulocytotropic anaplasmosis
* Human monocytotropic ehrlichiosis
* Flea-borne spotted fever
* Japanese spotted fever
* Mediterranean spotted fever
* Flinders Island spotted fever
* Verruga peruana
* Brill–Zinsser disease
* Brucellosis
* Cat-scratch disease
* Oroya fever
* Ehrlichiosis ewingii infection
* β: Gonococcemia/Gonorrhea/Primary gonococcal dermatitis
* Melioidosis
* Cutaneous Pasteurella hemolytica infection
* Meningococcemia
* Glanders
* Chromobacteriosis infection
* γ: Pasteurellosis
* Tularemia
* Vibrio vulnificus
* Rhinoscleroma
* Haemophilus influenzae cellulitis
* Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome
* Q fever
* Salmonellosis
* Shigellosis
* Plague
* Granuloma inguinale
* Chancroid
* Aeromonas infection
* ε: Helicobacter cellulitis
Other
* Syphilid
* Syphilis
* Chancre
* Yaws
* Pinta
* Bejel
* Chlamydia infection
* Leptospirosis
* Rat-bite fever
* Lyme disease
* Lymphogranuloma venereum
Unspecified
pathogen
* Abscess
* Periapical abscess
* Boil/furuncle
* Hospital furunculosis
* Carbuncle
* Cellulitis
* Paronychia / Pyogenic paronychia
* Perianal cellulitis
* Acute lymphadenitis
* Pilonidal cyst
* Pyoderma
* Folliculitis
* Superficial pustular folliculitis
* Sycosis vulgaris
* Pimple
* Ecthyma
* Pitted keratolysis
* Trichomycosis axillaris
* Necrotizing fascitis
* Gangrene
* Chronic undermining burrowing ulcers
* Fournier gangrene
* Elephantiasis nostras
* Blistering distal dactylitis
* Botryomycosis
* Malakoplakia
* Gram-negative folliculitis
* Gram-negative toe web infection
* Pyomyositis
* Blastomycosis-like pyoderma
* Bullous impetigo
* Chronic lymphangitis
* Recurrent toxin-mediated perineal erythema
* Tick-borne lymphadenopathy
* Tropical ulcer
This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Blastomycosis-like pyoderma
|
c0702100
| 25,984 |
wikipedia
|
https://en.wikipedia.org/wiki/Blastomycosis-like_pyoderma
| 2021-01-18T18:40:47 |
{"umls": ["C0702100"], "icd-10": ["L10.1"], "wikidata": ["Q4925480"]}
|
Runner's diarrhea, also known as runner's colitis, and runner's trots,[1] is a condition that often affects distance runners characterized by an urgent need for a bowel movement mid-run.
## Contents
* 1 Causes
* 2 Treatment and prevention
* 3 Notable cases
* 4 References
## Causes[edit]
The causes of runner's diarrhea remain under debate, although several theories include ischemia and mechanical trauma. The reduced incidence of diarrhea in cyclists would indicate the latter.[2] Diet is often cited as a common cause of diarrhea in distance runners, particularly with meals including berries and dried fruit.[3][citation needed]
## Treatment and prevention[edit]
Runner's diarrhea will normally clear up by itself from several hours to two days after running. As with all forms of diarrhea, replacement of fluids and electrolytes is advisable. Methods to prevent runner's diarrhea will vary between individuals, although it is advisable to consider examining the pre-running diet to determine potential trigger foods.[1]
## Notable cases[edit]
At the 1998 London Marathon, winner Catherina McKiernan suffered from recurrent diarrhea during the race.[4]
At the 2005 London Marathon, winner Paula Radcliffe, in desperate need for a toilet break during the race, stopped by the road in full view of the crowd and live TV cameras and defecated. She later blamed a surfeit of pasta and grilled salmon from the previous night for the incident.[5]
At the 2008 Göteborgsvarvet half marathon, David Bailey finished the race in 21st place in spite of being stained with his own excrement. A reporter asked him if he had ever considered stopping to clean off. He explained: "No, I'd lose time. […] If you quit once, it's easy to do it again and again and again. It becomes a habit."[6]
At the 2016 Summer Olympics – Men's 50 kilometres walk, Yohann Diniz led the race, but due to gastrointestinal issues, he fainted multiple times midrace. Nevertheless, he was able to recover and finished in 8th place, six minutes behind the winner Matej Tóth.[7]
At the 2019 Perm International Marathon, Alexander Novikov [ru] finished first despite suffering from a bout of diarrhea, which left his clothes sodden.[8]
## References[edit]
1. ^ a b Watson, Kathryn (27 June 2017). "Runner's Diarrhea: How Long Does It Last and How Can You Treat It?". Healthline. Retrieved 2019-09-24.
2. ^ Halvorsen, F A; Lyng, J; Glomsaker, T; Ritland, S (1990). "Gastrointestinal disturbances in marathon runners". British Journal of Sports Medicine. 24 (4): 266–8. doi:10.1136/bjsm.24.4.266. PMC 1478906. PMID 2097027.
3. ^ Noakes, Tim (2003). Lore of Running (4 ed.). Cape Town, South Africa: Human Kinetics. p. 582. ISBN 0873229592.
4. ^ "McKiernan answers the call for McColgan". The Herald. 26 April 1998. Retrieved 2019-09-12.
5. ^ Innes, John (April 18, 2005). "Relief all round after Paula pauses on road to glory". The Scotsman. Archived from the original on 2011-05-22.
6. ^ Hathaway, Jay (23 January 2015). "What Happened to the Runner Who Shit Himself During a Half-Marathon?". Gawker. Retrieved 17 July 2018.
7. ^ Augustine, Bernie (19 August 2016). "It looks like French race walker Yohann Diniz pooped his pants mid-race at the Olympics". New York Daily News. Retrieved 2019-09-12.
8. ^ "Российский чемпион в фекалиях выиграл международный марафон". Obozrevatel (in Russian). 11 September 2019. Retrieved 2019-09-12.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Runner's diarrhea
|
None
| 25,985 |
wikipedia
|
https://en.wikipedia.org/wiki/Runner%27s_diarrhea
| 2021-01-18T18:51:22 |
{"wikidata": ["Q7379901"]}
|
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Distal monosomy 1q
|
c2676727
| 25,986 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36367
| 2021-01-23T18:15:31 |
{"mesh": ["C567346"], "omim": ["612337"], "icd-10": ["Q93.5"], "synonyms": ["Distal deletion 1q", "Monosomy 1qter", "Telomeric deletion 1q"]}
|
Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Intermediate osteopetrosis
|
c1969093
| 25,987 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210110
| 2021-01-23T17:37:36 |
{"gard": ["4156"], "mesh": ["C566931"], "omim": ["611497"], "umls": ["C0432261", "C1969093"], "icd-10": ["Q78.2"], "synonyms": ["Autosomal recessive intermediate osteopetrosis"]}
|
A number sign (#) is used with this entry because of evidence that otodental dysplasia is caused by contiguous gene microdeletion at chromosome 11q13 in a region containing the FGF3 gene (164950).
Otodental dysplasia and coloboma is associated with microdeletion at chromosome 11q13 involving haploinsufficiency of multiple genes, including FGF3 and the FADD gene (602457).
Description
Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).
Clinical Features
Levin et al. (1975) and Levin and Jorgenson (1972, 1974) described a syndrome of sensorineural hearing loss and dental anomalies in a 6-generation kindred of Italian ancestry. A high frequency hearing loss varied in onset from early childhood to middle age. The maxillary deciduous canines and the deciduous and permanent molars were large and bulbous, but the incisors were normal. Premolars were congenitally missing in half of affected persons. On dental radiographs, the deciduous molars frequently appeared to have 2 separate pulp chambers. Taurodontia and pulp stones were also noted. Additional families with the disorder were described by Jorgenson et al. (1975) and Witkop et al. (1976). Cook et al. (1981) reported audiologic follow-up of the family originally studied by Jorgenson et al. (1975), and noted flat, severe, bilaterally symmetrical sensorineural losses in their cases.
Santos-Pinto et al. (1998) examined an affected mother, son, and daughter from a 3-generation Brazilian family, originally reported by de Toledo et al. (1971), in which multiple members had globodontia. All 3 examined individuals had deformed maxillary arches, large and bulbous canines, globe-shaped molars, delayed eruption of teeth of about 1 year, and multiple missing primary and/or permanent teeth. The mother did not have hearing loss, the son had partial hearing loss in adolescence, and the daughter had lost hearing in early childhood, following frequent ear abscesses. None of the patients had coloboma. The son and daughter had long facies with 'strong mentalis activity,' and the daughter had a full-cheek appearance. The authors noted that Witkop et al. (1976) had observed that patients with otodental syndrome had long facies, anteverted nostrils, long philtrum and a full-cheek appearance.
Van Doorne et al. (1998) described a 12-year-old Belgian boy who had characteristic features of otodental syndrome, including a symmetric dolichofacial appearance, high-frequency sensorineural hearing loss, and abnormalities of deciduous and permanent dentition with bulbous canines and globe-shaped posterior teeth. Previously unreported findings in this patient included generalized macrodontia, the combination of hypodontia and hyperdontia, with maxillary agenesis of premolars as well as presence of supplementary canines, and significant delay in mineralization of the premolars. Investigation of the family revealed that the patient's father had sensorineural hearing loss since childhood, bulbous cuspids, and globodontic morphology of 2 remaining mandibular molars, with normal appearance of the 4 mandibular incisors. The patient had an older brother who was unaffected except for the presence of a lateral incisor that was fused with a supplementary tooth; his grandmother, great-grandmother, as well as other sibs were reported to have had dental abnormalities and hearing problems, suggestive of autosomal dominant inheritance.
Sedano et al. (2001) reported a 5-year-old boy who had normal maxillary and mandibular incisors but markedly macrodontic, globular teeth in the premolar and molar areas of all quadrants as well as the canines. Two canines and 1 of the other teeth demonstrated areas of yellow hypoplastic enamel. Radiographs revealed that some of the abnormal teeth had bifurcated pulp chambers and pulp stones, and premolar tooth germs were absent. Audiometry showed marked bilateral sensorineural hearing loss for frequencies above 1000 Hz. Intraoral examination of the parents, sister, maternal grandmother, and paternal grandparents revealed no dental abnormalities like those of the proband, and audiometric examination was normal in all 6 relatives.
Gregory-Evans et al. (2007) studied the Brazilian family originally reported by de Toledo et al. (1971) and found that pathologic examination of extracted affected teeth suggested fusion of a number of original teeth rather than true globodontia. Many affected individuals in this family also displayed marked palate abnormalities, causing narrowing and crowding of the incisor region and micrognathia. Detailed ophthalmologic examination in this family and the Belgian family originally described by Van Doorne et al. (1998) did not reveal any ocular coloboma. Affected patients from both pedigrees described partial hearing loss from their earliest memories, and audiometry confirmed high-frequency loss from an early age.
### Otodental Dysplasia and Coloboma
Winter (1983) reported a 3-generation English family in which a mother, 2 daughters, and 2 granddaughters had high-frequency hearing loss and large 'dome-shaped' or 'bell-shaped' canines and molars with normal incisors, associated with unilateral or bilateral colobomata in 4 of the 5 affected individuals. A mesial yellowish-brown area of enamel hypoplasia was observed on the cervical aspect of a canine tooth. Radiographs showed large, irregularly forming permanent teeth, some of which appeared partially fused together. Histologic examination of a lower premolar tooth showed a supernumerary element fused to the main tooth-like mass, and the 2 coronal elements had a common pulp chamber. Pulp stones were also noted.
Vieira et al. (2002) examined 7 affected and 6 unaffected individuals from the British family with otodental syndrome originally studied by Winter (1983) and found that all affected individuals had iris and retinal coloboma associated with high-frequency progressive sensorineural deafness and globodontia. The ocular defects were markedly variable, and included microcornea, microphthalmos, lens opacity, and lens coloboma in addition to iris and retinal coloboma, and there was marked asymmetry in eye signs in 3 individuals. The hearing loss began in infancy in all individuals and progressed to a plateau by approximately 35 years of age. Although the incisors were relatively spared, the authors emphasized that those teeth were not normal, and all teeth that had not been removed showed yellowing and pitting indicative of enamel defects. In all affected individuals who had undergone radiography, enlarged pulp chambers (taurodontism), pulp stones, and abnormal roots were seen. Vieira et al. (2002) stated that this is the only genetic disease known to result in pathologically enlarged teeth.
Mapping
Vieira et al. (2002) performed genomewide linkage analysis in the British family with otodental syndrome and coloboma originally studied by Winter (1983) and found significant linkage to chromosome 20q. However, in subsequent analysis of this family ('OD2') as well as the Brazilian ('OD1') and Belgian ('OD3') families with otodental syndrome, originally described by de Toledo et al. (1971) and Van Doorne et al. (1998), respectively, Gregory-Evans et al. (2007) demonstrated linkage to chromosome 11q, obtaining a single lod score peak of 3.9 on chromosome 11q13 in family OD1 and identifying segregating haplotypes at 11q13 in families OD2 and OD3.
Molecular Genetics
In a Brazilian ('OD1') and a Belgian ('OD3') family with otodental syndrome, originally described by de Toledo et al. (1971) and Van Doorne et al. (1998), respectively, and in a British family with otodental syndrome and coloboma ('OD2'), originally reported by Winter (1983), Gregory-Evans et al. (2007) identified overlapping hemizygous microdeletions on chromosome 11q13 by SNP and Southern blot analysis. Family OD3 had the smallest deletion, an approximately 43-kb microdeletion extending from rs9666584 in the 5-prime untranslated region of the FGF4 gene (164980) to rs41408348 in the 5-prime untranslated region of the FGF3 gene, whereas family OD1 had an approximately 432-kb deletion, extending from rs9666584 to rs3740720 and encompassing the FGF3, C11ORF78, and TMEM16A genes (ANO1; 610108). Family OD2, in which affected individuals displayed ocular coloboma as well as otodental dysplasia, had the largest deletion, spanning up to 490 kb between rs9666584 and rs11235675 and encompassing the FGF3, C11ORF78, TMEM16A, and FADD (602457) genes. Gregory-Evans et al. (2007) suggested that FGF3 haploinsufficiency is likely the cause of otodental syndrome and that FADD haploinsufficiency accounts for the associated ocular coloboma.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Long face \- Full-cheek appearance \- Long philtrum Ears \- Hearing loss, sensorineural (high frequency) Eyes \- Coloboma (in some patients with larger microdeletion) Nose \- Anteverted nostrils Teeth \- Large, bulbous crowns of primary and secondary canines and molars (globodontia) \- Double pulp chambers \- Pulp stones \- Ankylosis of primary molars \- Taurodontia \- Enamel defects \- Absence of teeth, variable (primarily the first and second premolars) LABORATORY ABNORMALITIES \- Microdeletion of chromosome 11q13 (43-490kb) MISCELLANEOUS \- Coloboma is associated with larger microdeletion (490kb) of 11q13 MOLECULAR BASIS \- Contiguous gene deletion syndrome caused by microdeletion (43-490kb) of chromosome 11q13 ▲ 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
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OTODENTAL DYSPLASIA
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c2750325
| 25,988 |
omim
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https://www.omim.org/entry/166750
| 2019-09-22T16:36:50 |
{"mesh": ["C563482"], "omim": ["166750"], "orphanet": ["99806", "2791"], "synonyms": ["Alternative titles", "CHROMOSOME 11q13 DELETION SYNDROME", "OTODENTAL SYNDROME"]}
|
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Limb girdle syndrome" – news · newspapers · books · scholar · JSTOR (October 2010)
Limb girdle syndrome is a term to describe several distinct medical conditions including polymyositis, myopathy associated with endocrine disease, metabolic myopathy, drug-induced myopathy and limb-girdle muscular dystrophy.
Limb girdle syndrome is weakness located and concentrated around the proximal limb muscles. There are many causes, manifestations and treatments.[1]
## References[edit]
1. ^ Wilkinson, Iain and Lennox, Graham (June 2005). Essential Neurology (4th ed.). Wiley-Blackwell. p. 170. ISBN 978-1-4051-1867-5.
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
|
Limb girdle syndrome
|
None
| 25,989 |
wikipedia
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https://en.wikipedia.org/wiki/Limb_girdle_syndrome
| 2021-01-18T18:44:18 |
{"wikidata": ["Q16919874"]}
|
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr16:29.5-30.1 Mb, NCBI36).
Recurrent microdeletions and microduplications of approximately 555 kb at chromosome 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients (summary by Fernandez et al., 2010). The 16p11.2 deletion frequently cosegregates with severe early-onset obesity (Bochukova et al., 2010; Walters et al., 2010).
There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 136570 for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.
For a discussion of the clinical features and cytogenetics of the reciprocal 16p11.2 duplication, see 614671.
Battaglia et al. (2009) emphasized that the region at 16p11.2 that confers susceptibility to autism is located more centromeric to and is distinct from 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disabilities phenotype (613604).
For a discussion of genetic heterogeneity of autism, see 209850.
Clinical Features
Hernando et al. (2002) reported the first case of multiple congenital anomalies associated with a de novo interstitial deletion of band 16p11.2 confirmed by array comparative genomic hybridization (CGH). Ultrasound examination at age 20 weeks' gestation showed cardiac defects and unilateral multiple renal cysts. At birth, the male infant showed severe intrauterine growth retardation and dysmorphic features, including flat facies, microretrognathia, blepharophimosis, short nose with hypoplastic nasal alae and absent nasal bridge, low-set and malformed ears, coloboma, and unilateral chorioretinitis. Other features included tetralogy of Fallot with pulmonary atresia, cubital deviation of the hands, talipes varus, articular limitation, and hemivertebra at level L1. He also had unilateral renal agenesis and cryptorchidism. The deletion occurred on the maternally derived chromosome. He died of cardiac failure at age 5 months.
Shimojima et al. (2009) reported a 3-year-old boy with intrauterine growth retardation who had developmental delay, multiple hemivertebrae, missing ribs, inguinal hernia, and hydrocele testis. He could stand without support, but was unable to communicate verbally and showed hyperactivity, but did not fulfill the criteria for autism. He had mild dysmorphic features with microcephaly, bilateral ptosis, and a long nose. Brain MRI showed mild dilatation of the lateral ventricles. Array CGH identified an interstitial 593-kb deletion on chromosome 16p11.2 between homologous segmental duplications. The deletion was identical to the common deletion previously identified in patients with autism spectrum disorder (Weiss et al., 2008; AUTS14; see CYTOGENETICS). The mother also carried the deletion and was suspected to be borderline mentally retarded, but did not have autism and was not formally tested. Shimojima et al. (2009) noted that the patient reported by Hernando et al. (2002) also had hemivertebrae, and postulated involvement of the TBX6 gene (602427).
Shinawi et al. (2010) identified 27 individuals with a 16p11.2 deletion and 18 with a 16p11.2 duplication, accounting for 0.6% of 7,400 samples submitted for testing, most commonly for developmental delay and mental retardation. Sixteen patients with deletions were examined in detail. The deletion was confirmed to be de novo in 8 of 10 families, and was inherited from an affected father or an asymptomatic healthy parent in 1 family each. Deletions or duplications within this region were not observed in 194 normal parental samples. Although neither group constituted a clearly clinically recognizable syndromes, there were some common phenotypic features. All probands showed speech/language delay and cognitive impairment. Those with deletions had macrocephaly, broad forehead, micrognathia, hypertelorism, and a flat midface. Deletion carriers had motor delay (50%), seizures (40%), and congenital anomalies (30%). Only 3 of 16 patients with the 16p11.2 deletion met criteria for autism, and only 2 with duplications had autistic features. However, patients from both groups had an increased incidence of other behavioral problems, most commonly attention-deficit hyperactivity disorder. All the deletions and duplications appeared to be recurrent and reciprocal, with a minimum size of 579 kb. Breakpoint analysis identified 2 major families of low copy repeat (LCR) regions, 147 kb and 72 kb repeats, respectively, that contributed to the genomic complexity in this region. Shinawi et al. (2010) emphasized the incomplete penetrance and variable expressivity of clinical findings in patients with these genomic abnormalities.
Fernandez et al. (2010) reported 5 autistic probands with copy number variation (CNV) at 16p11.2, including 3 with deletions and 2 with duplications, and 1 proband with duplication and developmental delay and autistic-like features. Two of the 3 probands with deletions had notable dysmorphic features. The first proband was a 13-year-old boy with low nuchal hairline, short neck, flat face, low-set ears, narrow palpebral fissures, short nose with flat broad nasal root, smooth philtrum, widely spaced upper incisors, and pointed chin. He also had small hands with distally tapered fingers, short toes, micropenis, and obesity. He carried a de novo deletion. His sister, who did not carry the deletion, had Asperger syndrome and was not dysmorphic. The second proband was an 18-year-old girl who did not have dysmorphic features. Her deletion was also de novo, and she had a younger brother without the deletion who had autism. The third proband with a deletion inherited it from his affected mother. He had tall broad forehead with hypertelorism, midface hypoplasia, anteverted nares, smooth philtrum, wide mouth, and posteriorly rotated ears. His brother also carried the deletion and had similar facial features and autism. Their mother, who had mild mental retardation and autism, was brachycephalic with a receding hairline, deep-set eyes, smooth philtrum, large ears, and unusually short fifth toes. Fernandez et al. (2010) noted the extensive phenotypic variability in these patients, as some deletion-positive ASD probands had less severe phenotypes as deletion-negative ASD sibs. Compared with the microduplications, the microdeletions were more likely to be penetrant and to be associated with nonspecific major or minor dysmorphism. The results also indicated incomplete penetrance and supported the concept that sex difference provides a relative advantage in protecting females against the development of ASD even when a rare CNV is present.
Wat et al. (2011) reported 2 unrelated patients with multiple congenital anomalies, but ascertained due to congenital diaphragmatic hernia (CDH), who each had a de novo interstitial deletion of 16p11.2. A 2-year-old boy with right-sided CDH, microretrognathia, cleft palate, right inguinal hernia, and paternally inherited autosomal dominant polydactyly had biallelic 554-kb and 982-kb deletions of chromosome 16p11.2 by real-time quantitative PCR. The other patient was a newborn infant with left-sided CDH, hypoplastic nonarticulating thumbs, extrathoracic vertebra, and 13 pairs of ribs, who died on the 17th day of life with severe respiratory insufficiency and pulmonary hypertension. He was found to have a 771-kb deletion by FISH analysis.
Schaaf et al. (2011) reported 2 unrelated boys with heterozygous deletions of 16p11.2 and a third boy with a duplication of this region. The deletion patients had language delay and learning disabilities, and 1 met criteria for pervasive developmental disorder. Both deletion patients had symptomatic long cervicothoracic syringomyelia, 1 associated with Chiari I malformation and cerebellar tonsillar herniation, and the duplication patient had symptomatic long thoracolumbar syringomyelia. One of the deletion patients was obese. The minimal size of the rearrangement in all 3 patients was 579 kb.
### Clinical Variability
Shiow et al. (2009) reported a girl with attention deficit-hyperactivity disorder and mild cognitive impairment associated with a de novo heterozygous 600-kb deletion of chromosome 16p11.2 encompassing 24 genes, including CORO1A (605000). In addition, she had T-, B+, NK+ severe combined immunodeficiency (SCID) characterized by early-onset recurrent infections and post-vaccination varicella at age 13 months. Immunologic workup showed decreased numbers of lymphocytes, poor T-cell function with decreased proliferative response and lack of helper T-cell function for antibody isotype switching, and low immunoglobulins. Her thymus was present. Hematopoietic stem cell transplantation was successful. Molecular studies excluded mutations in known SCID genes and identified a heterozygous 2-bp deletion in the CORO1A gene (605000.0001) that was inherited from the unaffected father. Thus, she had a homozygous absence of the CORO1A gene, with absent expression of the protein in her lymphocytes. Shiow et al. (2008) demonstrated that Coro1a is mutated in a mouse model with a peripheral T cell deficiency (Ptcd), providing further evidence for pathogenicity.
### Association of the 593-kb Deletion Region with Obesity
Bochukova et al. (2010) noted that 4 patients carrying 750- to 780-kb deletions of chromosome 16p11.2, which included the 593-kb region, had developmental delay and/or autism and severe obesity and had been previously reported by Kumar et al. (2008), Weiss et al. (2008), or Marshall et al. (2008).
Walters et al. (2010) reported a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kb at chromosome 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from 8 European cohorts. These deletions were absent from healthy nonobese controls and accounted for 0.7% of morbid obesity cases (body mass index (BMI) greater than or equal to 40 kg/m(2), or BMI standard deviation score greater than or equal to 4.0; p = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with a strong effect.
Mapping
Barnby et al. (2005) presented evidence for an autism susceptibility locus on chromosome 16p.
Cytogenetics
On the basis of screening copy number variants associated with autism, Sebat et al. (2007) detected a deletion of 16p11.2 associated with autism.
As a component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), Weiss et al. (2008) searched for recurrent copy number variations in the genotype data from 751 multiplex families with autism. Five children from 4 unrelated AGRE families carried de novo deletions. One pair of sibs who were not monozygotic twins carried the same de novo deletion. Reciprocal duplication of the same region was observed in 3 AGRE families; in 2 of these families the duplication was inherited, being transmitted from a parent to both affected offspring in one family, and from another parent to all 4 affected sons. Specific recurrent de novo events were further evaluated in data from Children's Hospital Boston and in a large population study in Iceland. These analyses identified a novel, recurrent 593-kb deletion and reciprocal duplication at chromosome 16p11.2 that carried substantial susceptibility to autism and appeared to account for approximately 1% of cases. No other regions with similar aggregations of large de novo mutations were identified.
Eichler and Zimmerman (2008) further discussed the hotspot of genomic instability at chromosome 16p11.2 associated with autism. Interspersed duplication blocks in this region promote unequal crossing-over during meiosis. Gametes are produced that either lack or carry a double dose of the critical interval. Dosage-sensitive differences of genes in the critical interval probably increase susceptibility to the disorder. Eichler and Zimmerman (2008) stated that more than 25 genes or transcripts are located in the critical interval.
Using high-resolution microarray analysis, Marshall et al. (2008) found 277 unbalanced copy number variations, including deletion, duplication, translocation, and inversion, in 189 (44%) of 427 families with autism spectrum disorder. These specific changes were not present in a total of about 1,600 controls, although control individuals also carried many CNV. Although most variants were inherited among the patients, 27 cases had de novo alterations, and 3 (11%) of these individuals had 2 or more changes. Marshall et al. (2008) detected 13 loci with recurrent or overlapping CNV in unrelated cases. Of note, CNV at chromosome 16p11.2 was identified in 4 (1%) of 427 families and none of 1,652 controls (p = 0.002). The 16p11.2 CNV region exhibited characteristics of a genomic disorder, including being flanked by a pair of segmental duplications with greater than 99% identity, which likely mediate the deletion/duplication events through nonallelic homologous recombination.
Using array comparative genomic hybridization, Kumar et al. (2008) identified a recurrent 16p11.2 microdeletion in 4 (0.6%) of 712 probands with autism and 0 of 837 controls (p = 0.044). The deletion spanned approximately 500 kb and was flanked by approximately 147-kb segmental duplications, suggesting a recombination mechanism. Family analysis showed that 1 of the patients had an affected sib with the microdeletion; however, the 3 other probands each had an affected sib who did not carry the microdeletion. These latter 3 probands all had de novo mutations, whereas the 2 sibs apparently inherited the deletion from their unaffected father, who was presumably mosaic for the deletion. There were no striking phenotypic characteristics to distinguish the patients with the microdeletion. Kumar et al. (2008) suggested that the 16p11.2 microdeletion may be a risk factor for the development of autism.
To investigate large copy number variants segregating at rare frequencies (0.1 to 1.0%) in the general population as candidate neurologic disease loci, Itsara et al. (2009) compared large CNVs found in their study of 2,500 individuals with published data from affected individuals in 9 genomewide studies of schizophrenia, autism, and mental retardation. They found evidence to support the association of CNV at chromosome 16p11.2 with autism and schizophrenia (CNV deletion P = 0.186; CNV duplication P = 0.100; locus P = 0.039). They identified 18 CNVs, either deletions or duplications, in this region; 14 of these were disease-associated.
Glessner et al. (2009) performed SNP analysis of candidate gene regions in 859 patients of European ancestry with autism spectrum disorder and 1,409 controls. They observed a similar frequency for deletions and duplications of the 16p11.2 locus in patients as compared to controls (about 0.3%). In addition, the CNVs at the 16p11.2 locus did not segregate to all cases in 3 affected families, and they were also transmitted to unaffected sibs, suggesting that the CNVs at the 16p11.2 locus may not be sufficient to be causal variants in autism spectrum disorder.
Bijlsma et al. (2009) found a recurrent approximately 600-kb deletion of chromosome 16p11.2 in 14 (0.3%) of 4,284 probands with mental retardation/multiple congenital anomalies. Six cases were de novo, and 6 were inherited from parents with a milder or normal phenotype; the last 2 cases could not be assessed. Though some patients shared a mildly dysmorphic facial appearance and a tendency to be overweight, there was no evidence for a recognizable phenotype. Twelve of 14 had developmental delay ranging from motor retardation to severe mental retardation, and 10 had speech problems, but autism was formally diagnosed only in 1 patient. Three apparently normal parents also carried the deletion. A father and son had an atypical 205-kb deletion of chromosome 16p11.2. Bijlsma et al. (2009) concluded that recurrent 16p11.2 deletions are associated with a variable clinical outcome, but that the phenotypic spectrum can range from mental retardation and/or multiple congenital anomalies to autism, learning and speech problems, to a normal phenotype.
Levy et al. (2011) studied 887 families from the Simons Simplex Collection of relatively high functioning ASD families. They identified 75 de novo CNVs in 68 probands (approximately 8% of probands). Only a few were recurrent. Variation at the 16p11.2 locus was detected in more than 1% of patients (10 of 858), with deletions present in 6 and duplications in 4. In addition, the duplication at 7q11.2 of the Williams syndrome region (609757) was also seen as a recurrent CNV.
Sanders et al. (2011) examined 1,124 ASD simplex families from the Simons Simplex Collection. Each of the families was comprised of a single proband, unaffected parents, and in most kindreds an unaffected sib. Sanders et al. (2011) suggested that there are 130 to 234 ASD-related CNV regions in the human genome and presented compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-q13.1 (see 608636), 16p11.2, and neurexin-1 (600565). Sanders et al. (2011) found that probands carrying a 16p11.2 or 7q11.23 de novo CNV were indistinguishable from the larger ASD group with respect to IQ, ASD severity, or categorical autism diagnosis. However, they did find a relationship between body weight and 16p11.2 deletions and duplications. When copy number was treated as an ordinal variable, BMI diminished as 16p11.2 copy number increased (P = 0.02).
Sahoo et al. (2011) analyzed 38,779 individuals referred to the diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. They also analyzed the indications for study for individuals with copy number variants overlapping those found in 6 individuals referred for schizophrenia. After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), Sahoo et al. (2011) identified 1,113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the 6 individuals referred for schizophrenia. Of these, 1,035 had a copy number variant of 1 of 6 recurrent loci: 1q21.1 (612474, 612475), 15q11.2 (608636), 15q13.3 (612001), 16p11.2, 16p13.11 (610543, 613458), and 22q11.2 (192430, 608363). The indications for study for these 1,150 individuals were diverse and included developmental delay, intellectual disability, autism spectrum, and multiple congenital anomalies. Sahoo et al. (2011) identified the 16p11.2 microdeletion in 98 individuals; 27 were de novo, 10 maternally inherited, none paternally inherited, and 61 of unknown inheritance. The average age at diagnosis was 8.9 years with an age range of 0.3 to 31.8 years, and the indications for study included developmental delay, speech and language delay, behavioral problems, autism, autism spectrum disorders, dysmorphic features, and seizures. The microdeletion was seen in 98 of 23,250 cases referred to their laboratory for a frequency of 0.42%, and in 3 of 5,674 controls for a frequency of 0.05% and a p value of less than 0.0001 (Itsara et al., 2009). In a case-control comparison in schizophrenia populations the microdeletion was seen at an equal frequency among cases and controls (0.03%; McCarthy et al., 2009), but in a case-control comparison in a variable neurodevelopmental deficit population was seen in 0.78% of cases versus 0.02% of controls (McCarthy et al., 2009). Sahoo et al. (2011) concluded that the results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and implied the existence of shared biologic pathways among multiple neurodevelopmental conditions.
Kaminsky et al. (2011) performed a large CNV case-control study comprising 15,749 International Standards for Cytogenomic Arrays (ISCA) cases with intellectual and developmental disabilities and 10,118 published controls, focusing their analysis on recurrent deletions and duplications involving 14 CNV regions. The 16p11.2 deletion was observed in 67 cases and the reciprocal duplication in 39 cases in the ISCA cohort, giving a frequency of 1 in 235 and 1 in 404, respectively. Only five 16p11.2 deletions were found among the control population, providing strong evidence for the pathogenic nature of this CNV (OR, 8.64; p = 6.34(-10)).
Crepel et al. (2011) identified an approximately 118-kb deletion within 16p11.2 that segregated with ASD and other neurodevelopmental abnormalities in a single 3-generation pedigree. This deletion encompassed 5 genes, including KCTD13 (608947). Golzio et al. (2012) performed an MLPA assay of this restricted region in 518 subjects that met diagnostic criteria for autism or ASD and found full-segment deletions in 8 independent ASD subjects (1.54%; 6 deletions and 2 duplications), compared to just 5 such events from 8,328 controls (0.06%). One proband with a narrow diagnosis of autism had a deletion only of exon 4 of KCTD13.
Animal Model
Golzio et al. (2012) dissected a region of the 16p11.2 chromosome, which encompasses 29 genes, that confers susceptibility to neurocognitive defects when deleted or duplicated. Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication, whereas suppression of the same locus yielded the macrocephalic phenotype associated with the deletion, capturing the mirror phenotypes of humans. Analyses of zebrafish and mouse embryos suggested that microcephaly is caused by decreased proliferation of neuronal progenitors with concomitant increase in apoptosis in the developing brain, whereas macrocephaly arises by increased proliferation and no changes in apoptosis. A role for KCTD13 dosage changes was consistent with autism in both a family with a reduced 16p11.2 deletion (Crepel et al., 2011) and a subject reported by Golzio et al. (2012) with a complex 16p11.2 rearrangement involving de novo structural alteration of KCTD13. Golzio et al. (2012) concluded that their data suggested that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV, reinforced the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offered an efficient route to identifying dosage-sensitive loci.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
|
c3150154
| 25,990 |
omim
|
https://www.omim.org/entry/611913
| 2019-09-22T16:02:38 |
{"omim": ["611913"], "orphanet": ["261197"], "synonyms": ["Proximal del(16)(p11.2)", "Proximal monosomy 16p11.2"], "genereviews": ["NBK11167", "NBK475803"]}
|
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: "Internet sex addiction" – news · newspapers · books · scholar · JSTOR (August 2019)
Internet sex addiction, also known as cybersex addiction, has been proposed as a sexual addiction characterized by virtual Internet sexual activity that causes serious negative consequences to one's physical, mental, social, and/or financial well-being.[1][2] It may also be considered a subset of the theorized Internet addiction disorder.[3] Internet sex addiction manifests various behaviours: reading erotic stories; viewing, downloading or trading online pornography; online activity in adult fantasy chat rooms; cybersex relationships; masturbation while engaged in online activity that contributes to one's sexual arousal; the search for offline sexual partners and information about sexual activity.[3][4][5][6]
Internet sex addiction can have several causes according to the American Association for Sex Addition Therapy. The first cause is the neural physiological attachment that occurs during orgasms - reinforcing and attaching the images or scenarios to the addictive behavior concurrently. Secondly, psychological defects like abandonment, unimportance or lack of genuine attachment are sometimes medicated by the instances of sex addiction behavior. Thirdly, the internet sex addict may be using the addiction to balance a legitimate chemical imbalance due to major depression, a bipolar disorder or a manic depressive disorder.[7] The cybersex addict may also struggle with intimacy anorexia since the cyber world feels safer than real relationships.
## Contents
* 1 General
* 2 DSM classification
* 3 See also
* 4 References
* 5 Further reading
* 6 External links
## General[edit]
Cybersex addiction is a form of sexual addiction and Internet addiction disorder.[3] As a form of a compulsive behavior, it can be identified by three criteria: the failure of making a decision about engagement in the behavior, obsession with the behavior, and the inability to stop the behavior despite negative consequences.[5]
Adults with this type of addiction, engage in at least one of the relevant behaviors. The majority of reasons why individuals experiment with such forms of sexual expression are diverse, and can be associated with an individual's psychological disorders or issues. Individuals who suffer from low self-esteem, severely distorted body image, untreated sexual dysfunction, social isolation, depression, or are in recovery from a prior sexual addiction are more vulnerable to cybersexual addictions.[3][4][8] Other psychological issues that may arise with this addiction include struggles for intimacy, self-worth, self-identity, self-understanding.[5]
The impact of cybersex addiction may also impact the spouse, partner or others in relationships with the addict. The resulting effects on others may include depression, weight gain and lower self-esteem.[9] If cyber sex addicts have children, their actions may also impact those children (whether they are grown adult children or younger dependents).[10]
## DSM classification[edit]
There is an ongoing debate in the medical community concerning the insufficient studies, and of those, their quality, or lack thereof, and the resulting analysis and conclusions drawn from them, such as they are. So far, without repeatable, meaningful, measurable, and quantifiable analysis, no medical community wide acceptably reasonable standards, a definition, have been drawn yet.
Hence, internet sex addiction, just like its umbrella sexual addiction, is still not listed in the DSM-5,[11] which is commonly used by psychiatrists in the United States for diagnosing patients problems in a standard uniform way.
## See also[edit]
* Internet pornography
* Pornography addiction
## References[edit]
1. ^ Stein, Dan J.; Hollander, Eric; Rothbaum, Barbara Olasov (31 August 2009). Textbook of Anxiety Disorders. American Psychiatric Pub. pp. 359–. ISBN 978-1-58562-254-2. Retrieved 24 April 2010.
2. ^ Parashar A, Varma A (April 2007). "Behavior and substance addictions: is the world ready for a new category in the DSM-V?". CNS Spectr. 12 (4): 257, author reply 258–9. doi:10.1017/S109285290002099X. PMID 17503551.
3. ^ a b c d Griffiths, Mark (November 2001). "Sex on the internet: Observations and implications for internet sex addiction". The Journal of Sex Research. 38 (4): 333–342. doi:10.1080/00224490109552104. S2CID 144522990. Retrieved 2 April 2013.
4. ^ a b Young, Kimberly S. (September 2008). "Internet sex addiction: Risk factors, stages of development, and treatment". American Behavioral Scientist. 52 (1): 21–37. doi:10.1177/0002764208321339. S2CID 143927819. Retrieved 2 April 2013.
5. ^ a b c Daneback, Kristian; Michael W. Ross; Sven-Axel Månsson (2006). "Characteristics and behaviors of sexual compulsives who use the internet for sexual purposes". Sexual Addiction & Compulsivity. 13 (1): 53–67. CiteSeerX 10.1.1.502.5953. doi:10.1080/10720160500529276. S2CID 56232106. Retrieved 2 April 2013.
6. ^ Laier, C.; Pawlikowski, M.; Pekal, J.; Schulte, F. P.; Brand, M. (2013). "Cybersex addiction: Experienced sexual arousal when watching pornography and not real-life sexual contacts makes the difference" (PDF). Journal of Behavioral Addictions. 2 (2): 100–107. doi:10.1556/JBA.2.2013.002. PMID 26165929.[permanent dead link]
7. ^ "SRT Training & Certification | Sexual Recovery Therapist | AASAT". American Association for Sex Addiction Therapy. Retrieved 2018-06-20.
8. ^ Cooper, Alvin; Coralie R. Scherer; Sylvain C. Boies; Barry L. Gordon (April 1999). "Sexuality on the Internet: From Sexual Exploration to Pathological Expression". Professional Psychology: Research and Practice. 30 (1): 154–164. doi:10.1037/0735-7028.30.2.154. Retrieved 2 April 2013.
9. ^ Weiss, Douglas (2011). Partners: Healing From His Addiction. Colorado Springs, CO 80949: Discovery Press. p. 28. ISBN 978-1-881292-34-0.CS1 maint: location (link)
10. ^ Weiss, Douglas (2005). Beyond the bedroom : healing for adult children of sex addicts. Deerfield Beach, FL: Health Communications. pp. 17–21. ISBN 978-0757303258. OCLC 57754066.
11. ^ American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders (Fifth ed.). Arlington, VA: American Psychiatric Publishing. pp. 797–798. ISBN 978-0-89042-555-8.
## Further reading[edit]
* Delmonico, David L.; Griffin, Elizabeth J. (2010). "Cybersex Addiction and Compulsivity". In Young, Kimberly S.; de Abreu, Cristiano Nabuco (eds.). Internet Addiction: A Handbook and Guide to Evaluation and Treatment. John Wiley and Sons. pp. 113–134. ISBN 978-0-470-55116-5.
* Delmonico, David L. (2002). "Sex on the superhighway: Understanding and treating cybersex addiction". In Carnes, P. J.; Adams, K. M. (eds.). Clinical Management of Sex Addiction. New York, NY: Taylor & Francis. pp. 239–254.
* Delmonico, David L.; Griffin, Elizabeth J.; Carnes, P. J. (2002). "Treating online compulsive sexual behavior: When cybersex becomes the drug of choice.". In Cooper, A. (ed.). Sex and the Internet: A Guidebook for Clinicians. New York, NY: Taylor & Francis. pp. 147–167.
* Schwartz, Mark F.; Southern, Stephen (2000). "Compulsive Cybersex: The New Tea Room". Sexual Addiction & Compulsivity: The Journal of Treatment & Prevention. 7 (1–2): 127–144. doi:10.1080/10720160008400211. S2CID 144003671.
* Schneider, Jennifer P. (2000). "Effects of cybersex addiction on the family: Results of a survey". Sexual Addiction & Compulsivity: The Journal of Treatment & Prevention. 7 (1–2): 31–58. doi:10.1080/10720160008400206. S2CID 143246560.
* Orzack, Maressa Hecht; Rossb, Carol J. (2000). "Should Virtual Sex Be Treated Like Other Sex Addictions?". Sexual Addiction & Compulsivity: The Journal of Treatment & Prevention. 7 (1–2): 113–125. doi:10.1080/10720160008400210. S2CID 144636125.
* Delmonico, David L. (1997). "Cybersex: High tech sex addiction". Sexual Addiction & Compulsivity: The Journal of Treatment & Prevention. 4 (2): 159–167. doi:10.1080/10720169708400139.
## External links[edit]
Look up Wikisaurus:libidinist in Wiktionary, the free dictionary.
* WikiSaurus:libidinist
* Cybersexual Addiction Quiz
* Internet Pornography and Sex Addiction Help through Supplementation
* Internet Pornography and Masturbation Addiction Help
* Using Exposure and Response Prevention (ERP) to break away from pornography and masturbation addiction
* v
* t
* e
Reinforcement disorders: Addiction and Dependence
Addiction
Drug
* Alcohol
* Amphetamine
* Cocaine
* Methamphetamine
* Methylphenidate
* Nicotine
* Opioid
Behavioral
* Financial
* Gambling
* Shopping
* Palatable food
* Sex-related
* Intercourse
* Pornography
* Internet-related
* Internet addiction disorder
* Internet sex addiction
* Video game addiction
* Digital media addictions
Cellular
mechanisms
* Transcriptional
* ΔFosB
* c-Fos
* Cdk5
* CREB
* GluR2
* NF-κB
* Epigenetic
* G9a
* G9a-like protein
* HDAC1
* HDAC2
* HDAC3
* HDAC4
* HDAC5
* HDAC9
* HDAC10
* SIRT1
* SIRT2
* ...
Dependence
Concepts
* Physical dependence
* Psychological dependence
* Withdrawal
Disorders
* Drugs
* Alcoholism
* Amphetamine
* Barbiturate
* Benzodiazepine
* Caffeine
* Cannabis
* Cocaine
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Treatment and management
Detoxification
* Alcohol detoxification
* Drug detoxification
Behavioral therapies
* Cognitive behavioral therapy
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* Community reinforcement approach and family training
* Motivational enhancement therapy
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Treatment programs
* Drug rehab
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Support groups
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Harm reduction
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See also
* Addiction medicine
* Allen Carr
* Category:Addiction
* Discrimination against drug addicts
* Dopamine dysregulation syndrome
* Cognitive control
* Inhibitory control
* Motivational salience
* Incentive salience
* Sober companion
* Category
* v
* t
* e
Pornography
Pornography
Types
* Amateur
* Cartoon
* Hentai
* Tijuana bible
* Child
* Erotica
* Simulated
* Deepfake
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* Hardcore
* Internet
* Mobile
* Phone
* Revenge
* Sexting
* Softcore
Genres
* Alt
* Bisexual
* Bondage
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* Clothed female, naked male
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* Convent
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Related
* History
* Film actor
Organizations
* Adult Film Association of America
* Critics Adult Film Association
* Fans of X-Rated Entertainment
* Free Speech Coalition
* X-Rated Critics Organization
* List of pornography companies
* List of pornographic film studios
Opposition to
pornography
Movements
* Anti-pornography movement in the United Kingdom
* Anti-pornography movement in the United States
* Antipornography Civil Rights Ordinance
Organizations
* Churchmen's Committee for Decent Publications
* Feminists Fighting Pornography
* Fight the New Drug
* The Marriage Vow
* No More Page 3
* Stop Bild Sexism
* Stop Child Trafficking Now
* Stop Porn Culture
* Women Against Pornography
* Women Against Violence in Pornography and Media
* XXXchurch.com
Overuse
* NoFap
* Content-control software
* Accountability software
* Parental controls
* Employee monitoring software
Views
* Feminist
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Media
* Audio
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Possible effects
* Addiction
* Internet sex addiction
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* STDs
People
* Performers by decade
* British performers
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* Film directors
Events
* Adultcon
* AVN Adult Entertainment Expo
* Barcelona International Erotic Film Festival
* Brussels International Festival of Eroticism
* Exotic Erotic Ball
* Exxxotica Expo
* HUMP
* Porn Sunday
Miscellaneous
* Adult movie theater
* Blue Movie
* Golden Age
* Not safe for work
* Pornographication
* Pornotopia
* R18 certificate
* Rule 34
* Sex shop
* Sexualization
* X rating
See also
* Erotica
* Art
* Comics
* Film
* Literature
* Photography
* Sexual activity
* Ribaldry
* Right to sexuality
* Sex-positive movement
* Sexual repression
* Sexual revolution
* Category
* Erotica and pornography portal
* Human sexuality portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Internet sex addiction
|
None
| 25,991 |
wikipedia
|
https://en.wikipedia.org/wiki/Internet_sex_addiction
| 2021-01-18T18:46:27 |
{"wikidata": ["Q1514248"]}
|
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF) is caused by homozygous or compound heterozygous mutation in the TMEM94 gene (618163) on chromosome 17q25.
Description
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (summary by Stephen et al., 2018).
Clinical Features
Stephen et al. (2018) reported 10 patients from 6 unrelated families with a similar syndromic neurodevelopmental disorder. The families were of different ethnic origins, but most were consanguineous and of Middle Eastern descent. The patients ranged in age from 3 to 24 years, and all had global developmental delay apparent from infancy or early childhood, with mild to moderate impaired intellectual development, learning disabilities, speech delay, and mildly delayed walking. Many attended special schools; IQ of 1 patient at age 16 was 58. All but 1 of the patients presented in infancy with variable congenital heart defects, including tetralogy of Fallot, atrial and ventricular septal defects, patent foramen ovale, patent ductus arteriosus, hypoplastic pulmonary valve or pulmonary atresia, and double outlet right ventricle. Dysmorphic features included triangular face with pointed chin, short nose with anteverted nares, flat nasal bridge, deep-set eyes, hypertelorism, long philtrum, thin upper lip, low-set or dysmorphic ears, highly arched eyebrows, and synophrys or hypertrichosis. Some patients had mild myopia or strabismus, and some had somatic overgrowth and large head circumference. About half of patients had skeletal anomalies, such as long or overlapping fingers or toes, cutaneous syndactyly, and scoliosis. Less common features observed in only 1 or 2 patients included seizures, pectus abnormalities, hypotonia, feeding or respiratory difficulties, hypospadias, and cryptorchidism. Brain imaging, performed in a few patients, showed nonspecific abnormalities, such as Chiari I malformation (1 patient), delayed myelination, and white matter signal abnormalities.
Inheritance
The transmission pattern of IDDCDF in the families reported by Stephen et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 10 patients from 6 unrelated families with IDDCDF, Stephen et al. (2018) identified homozygous or compound heterozygous nonsense, frameshift, or splice site mutations (see, e.g., 618163.0001-618163.0005). All the mutations were predicted or demonstrated to result in truncated proteins lacking the highly conserved C-terminal domain including cation P-type ATPase domains. Analysis of cells from patients from 2 unrelated families showed significantly decreased TMEM94 expression, consistent with a loss of function. Global transcriptome profiling of cells from 1 family showed dysregulation of genes involved in cell growth, proliferation, and survival that were predicted to affect several organ systems involved in the phenotype. The patients were ascertained through collaborative research efforts and matchmaking platforms, and the mutations, which were found by a combination of homozygosity mapping and whole-exome or whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Several of the affected individuals were found to have homozygous variants of unknown significance in other genes, including those known to cause recessively inherited neurodevelopmental disorders, but these variants were not considered to be the primary genetic cause of the disorder.
Animal Model
Stephen et al. (2018) found that homozygous loss of Tmem94 in mice was embryonic lethal and led to craniofacial defects, cardiac abnormalities, and abnormal neuronal migration in the central nervous system.
INHERITANCE \- Autosomal recessive GROWTH Other \- Somatic overgrowth (in some patients) HEAD & NECK Head \- Large head circumference (in some patients) Face \- Dysmorphic facial features \- Triangular face \- Pointed chin \- Smooth philtrum Ears \- Low-set ears \- Dysmorphic ears Eyes \- Hypertelorism \- Deep-set eyes \- Synophrys \- High-arched eyebrows \- Myopia \- Strabismus Nose \- Depressed nasal bridge \- Broad nasal bridge \- Anteverted nares Mouth \- Thin upper lip CARDIOVASCULAR Heart \- Congenital heart malformations \- Atrial septal defect \- Ventricular septal defect \- Pulmonary hypoplasia \- Pulmonary atresia \- Tetralogy of Fallot \- Patent foramen ovale \- Patent ductus arteriosus \- Double outlet right ventricle GENITOURINARY External Genitalia (Male) \- Cryptorchidism \- Hypospadias SKELETAL Spine \- Scoliosis Hands \- Long fingers \- Overlapping fingers Feet \- Long toes \- Overlapping toes \- Cutaneous syndactyly MUSCLE, SOFT TISSUES \- Hypotonia (in some patients) NEUROLOGIC Central Nervous System \- Global developmental delay, mild to moderate \- Delayed walking \- Impaired intellectual development \- Speech delay \- Learning disabilities \- Seizures (rare) \- Nonspecific brain abnormalities, mild, seen on imaging (in some patients) MISCELLANEOUS \- Onset in infancy MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 94 gene (TMEM94, 618163.0001 ) ▲ 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
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
|
None
| 25,992 |
omim
|
https://www.omim.org/entry/618316
| 2019-09-22T15:42:30 |
{"omim": ["618316"]}
|
Loss of muscular strength
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Atony" – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this template message)
In medicine, atony or atonia is a condition in which a muscle has lost its strength. It is frequently associated with the conditions atonic seizure, atonic colon, uterine atony, gastrointestinal atony (occurs postoperatively) and choreatic atonia.
Atony can also refer to the paralyzed or extremely relaxed state of skeletal muscles in rapid eye movement sleep (REM sleep) in most warm-blooded animals.
The term atony comes from the Ancient Greek ἀτονία (atonia), "slackness, debility".
## See also[edit]
* Hypotonia
* Muscle weakness
## References[edit]
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
|
Atony
|
None
| 25,993 |
wikipedia
|
https://en.wikipedia.org/wiki/Atony
| 2021-01-18T19:02:28 |
{"wikidata": ["Q757676"]}
|
Genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population
A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem,[1] which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.
## Contents
* 1 Behavior
* 2 Genetic discrimination in health insurance in US
* 3 See also
* 4 References
* 5 External links
## Behavior[edit]
Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.
For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance.[1] The intentional stance is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.
In 1951, Hans Eysenck and Donald Prell published an experiment in which identical (monozygotic) and fraternal (dizygotic) twins, ages 11 and 12, were tested for neuroticism. It is described in detail in an article published in the Journal of Mental Science. in which Eysenck and Prell concluded that, "The factor of neuroticism is not a statistical artifact, but constitutes a biological unit which is inherited as a whole....neurotic Genetic predisposition is to a large extent hereditarily determined."[2]
E. O. Wilson's book on sociobiology and his book Consilience discuss the idea of genetic predisposition of behaviors.
The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.
## Genetic discrimination in health insurance in US[edit]
Main article: Genetic discrimination
In US, the Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008,[3] prohibits discrimination in employment and health insurance based on genetic information.
## See also[edit]
* Human nature
* The nature versus nurture debate
* Behavioral genetics
* Predispositioning Theory
* Psychiatric genetics
* Gene-environment correlation
* Medical genetics of Ashkenazi Jews
* Eugenics
* Eggshell skull
* MODY
* Allergy
* Oncogene
* Quantitative trait locus
* Genetic privacy
## References[edit]
1. ^ What does it mean to have a genetic predisposition to a disease?, US Department of Health
2. ^ The Journal of Mental Health, July 1951, Vol. XCVII, "The Inheritance of Neuroticism: An Experimental Study", H. J. Eysenck and D. B. Prell, p. 402.
3. ^ http://www.genome.gov/24519851
1. ^ The results of this survey are discussed here (January 20, 1998).
2. ^ A summary of U.S.A. executive orders and proposed legislation is compiled by the National Center for Genome Resources.
3. ^ The Intentional Stance (MIT Press; Reprint edition 1989) (ISBN 0-262-54053-3)
## External links[edit]
* Genetic discrimination fact sheet from the National Human Genome Research Institute.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Genetic predisposition
|
None
| 25,994 |
wikipedia
|
https://en.wikipedia.org/wiki/Genetic_predisposition
| 2021-01-18T19:02:53 |
{"wikidata": ["Q784237"]}
|
Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening. Most cases appear to occur randomly (sporadically), but both autosomal dominant and autosomal recessive inheritance have been reported. No specific gene known to cause the condition has been identified. Treatment and prognosis depend on the features and severity in each affected 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
|
Cerebro-costo-mandibular syndrome
|
c0265342
| 25,995 |
gard
|
https://rarediseases.info.nih.gov/diseases/6026/cerebro-costo-mandibular-syndrome
| 2021-01-18T18:01:33 |
{"mesh": ["C562538"], "omim": ["117650"], "umls": ["C0265342"], "orphanet": ["1393"], "synonyms": ["Cerebrocostomandibular syndrome ", "CCMS", "CCM syndrome", "Rib gap defects with micrognathia"]}
|
Recognition of obesity as an epidemic
Part of a series on
Human body weight
General concepts
* Obesity (Epidemiology)
* Overweight
* Underweight
* Body shape
* Weight gain
* Weight loss
* Gestational weight gain
* Diet (nutrition)
* Weight management
* Overnutrition
* Childhood obesity (Epidemiology)
Medical concepts
* Adipose tissue
* Classification of obesity
* Genetics of obesity
* Metabolic syndrome (Epidemiology of metabolic syndrome)
* Metabolically healthy obesity
* Obesity paradox
Measurements
* Body adiposity index
* Body mass index
* Body fat percentage
* Body Shape Index
* Corpulence index
* Lean body mass
* Relative Fat Mass
* Waist–hip ratio
* Waist-to-height ratio
Related conditions
* Diabetes (Type 1)
* Eating disorder (Anorexia • Bulimia • Binge eating disorder)
* Food addiction
* Hyperthyroidism
* Malnutrition
* RED-S
* Starvation (Starvation response)
* PCOS
Obesity-associated morbidity
* Arteriosclerosis
* Atherosclerosis
* Fatty liver disease
* GERD
* Heart disease
* Hypertension
* Obesity and cancer
* Osteoarthritis
* Prediabetes
* Sleep apnea
* Type 2 diabetes
Management of obesity
* Anti-obesity medication
* Bariatrics
* Bariatric surgery
* Dieting (List of diets)
* Caloric deficit
* Exercise (outline)
* Liposuction
* Obesity medicine
* Weight loss camp
* Weight loss coaching
* Yo-yo effect
Social aspects
* Comfort food
* Fast food (Criticism)
* Fat acceptance movement
* Fat fetishism
* Health at Every Size
* Hunger
* Obesity and the environment
* Sedentary lifestyle
* Social determinants of obesity
* Social stigma of obesity
* Weight cutting
* Weight class
* v
* t
* e
See or edit source data.
Percentage of males either overweight or obese by year. Click slider to change year.[1]
World obesity prevalence among males.[2]
<5%
5-10%
10-15%
15-20%
20-25%
25-30%
30-35%
35-40%
40-45%
45-50%
50-55%
>55%
World obesity prevalence among females.[2]
<5%
5-10%
10-15%
15-20%
20-25%
25-30%
30-35%
35-40%
40-45%
45-50%
50-55%
>55%
Obesity has been observed throughout human history. Many early depictions of the human form in art and sculpture appear obese.[3] However, it was not until the 20th century that obesity became common — so much so that, in 1997, the World Health Organization (WHO) formally recognized obesity as a global epidemic[4] and estimated that the worldwide prevalence of obesity has nearly tripled since 1975.[5] Obesity is defined as having a body mass index (BMI) greater than or equal to 30 kg/m2, and in June 2013 the American Medical Association classified it as a disease.[6]
In countries of the Organisation for Economic Co-operation and Development (OECD), one child out of five is overweight or obese.[7] Once considered a problem only of high-income countries, obesity rates are rising worldwide. Globally, there are now more people who are obese than who are underweight, a trend observed in every region over the world except parts of sub-Saharan Africa and Asia.[8] In 2013, an estimated 2.1 billion adults were overweight, as compared with 857 million in 1980.[9] Of adults who are overweight, 31% are obese.[8] Increases in obesity have been seen most in urban settings.[10]
Since body fat can be measured in several ways, statistics on the epidemiology of obesity vary between sources. While BMI is the most basic and commonly used indicator of obesity, other measures include waist circumference, waist-to-hip ratio, skinfold thicknesses, and bioelectrical impedance.[11] The rate of obesity increases with age at least up to 50 or 60 years old.[12]
## Contents
* 1 Africa
* 1.1 Egypt
* 2 Asia
* 2.1 China
* 2.2 India
* 2.3 Iran
* 2.4 Japan
* 2.5 Pakistan
* 2.6 Taiwan
* 3 Europe
* 3.1 United Kingdom
* 4 North America
* 4.1 Canada
* 4.2 Mexico
* 4.3 United States
* 5 South America and the Caribbean
* 6 Oceania and the Pacific
* 6.1 Australia
* 6.2 New Zealand
* 6.3 South Pacific
* 7 See also
* 8 References
* 9 External links
## Africa[edit]
See also: Obesity in the Middle East and North Africa
Obesity rates in Western Africa are estimated to be 10%. Rates of obesity among women are three times those found in men. In urban West Africa rates of obesity have more than doubled in the last 15 years.[13]
### Egypt[edit]
In Egypt, according to data from the 2016 Global Burden of Disease study, overweight and obesity (as measured by high BMI) was the country's leading risk factor driving the most death and disability combined.[14]
## Asia[edit]
### China[edit]
Main article: Obesity in China
China is currently facing challenges of overnutrition.[15] This is believed to be primarily due to the rapid declines in physical activity and changing dietary habits which have occurred between the 1980s and the 2000s. The decline in physical activity is attributed to increasing technology in the workplace and changing leisure activities.[15]
In 1989 65% of Chinese had jobs that required heavy labor. This decreased to 51% in the year 2000.[15] Combined with this has been a change to a diet higher in meat and oil,[15] and an increase in overall available calories.[16] Available calories per person increased from 2,330 kilocalories (9,700 kJ) per day in 1980 to 2,940 kilocalories (12,300 kJ) per day in 2002.[16] Rates of overweight and obese adults increased 12.9% in 1991 to 27.3% in 2004.[17]
Overall rates of obesity are below 5% in China as a whole but are greater than 20% in some cities.[18]
### India[edit]
Main article: Obesity in India
Obesity has reached epidemic proportions in India in the 21st century, with morbid obesity affecting 5% of the country's population.[19] Obesity is a major risk factor for cardiovascular disease and NGOs such as the Indian Heart Association have been raising awareness about this issue.[20] Urbanization and modernization has been associated with obesity.[21] In Northern India obesity was most prevalent in urban populations (male = 5.5%, female = 12.6%), followed by the urban slums (male = 1.9%, female = 7.2%). Obesity rates were the lowest in rural populations (male = 1.6%, female = 3.8%).[21]
Socioeconomic class also had an effect on the rate of obesity. Women of high socioeconomic class had rates of 10.4% as opposed to 0.9% in women of low socioeconomic class.[22] With people moving into urban centers and wealth increasing, concerns about an obesity epidemic in India are growing.
### Iran[edit]
In Iran the prevalence of obesity was 26.3% in 2008. Prevalence of obesity was more among women (39.5%) than men (14.5%).[23]
### Japan[edit]
Using the WHO criteria Japan has the lowest rate of obesity among the OECD member countries at 3.2%.[24][25] However, as Asian populations are particularly susceptible to the health risks of excess adipose tissue the Japanese have redefined obesity as any BMI greater than 25.[26] Using this cut off value the prevalence of obesity in Japan would be 20%, a threefold increase from 1962 to 2002.[27] A 2008 report stated that 28.6% of men and 20.6% of women in Japan were considered to be obese.[28]
### Pakistan[edit]
Main article: Obesity in Pakistan
Changing lifestyles, owing to urbanisation, as well as diet issues are the main reasons for obesity in Pakistan. According to a recent study, approximately one out of four Pakistani adults (or 22.2% of individuals) are classified as obese.[29][30]
### Taiwan[edit]
In 2002, 15% of children from 6 to 12 years of age were overweight; by gender, 15.5% of males and 14.4% of females were overweight. In the same age range, 12% of children were obese; by gender, 14.7% of males and 9.1% of females were categorized as obese. In 2005, 14.9% children from 6 to 12 years of age were overweight; by gender, 15.85% of males and 14.02% of females were overweight. 10.3% were categorized as obese; by gender, 10.92% of males and 9.73% of females were categorized as obese.
Based on these numbers, the trends were inconclusive, although with more than 10% of the age group being obese, obesity does appear to be a problem.[31]
## Europe[edit]
Rates of obesity in the Netherlands between 1981 and 2006.
Between the 1970s and the 2000s, rates of obesity in most European countries have increased. During the 1990s and 2000s, the 27 countries making up the EU reported rates of obesity from 10–27% in men and from 10–38% in women.[32]
The most recent combined Eurostat statistics, for 2009, show that, among the 19 EU Member States for which data are available, the proportion of obese people in the adult population varied in 2008/9 between 8.0% (Romania) and 23.9% (UK) for women and between 7.6% (Romania) and 24.7% (Malta) for men. Overall the UK had the highest proportions, and Romania the lowest. Men, the elderly and people with lower educations also have significantly higher obesity rates.[33]
### United Kingdom[edit]
Main article: Obesity in the United Kingdom
In the UK the rate of obesity has increased about fourfold over the last 30 years, reaching levels of 22–24% in 2008/9.[12][33] The United Kingdom now has the highest rate of obesity in Europe.
Year Percent males obese Percent females obese
1980 6% 8%
1993 13% 16%
2000 21% 21%
2008/9 22% 24%
[34]
## North America[edit]
Obesity rates as a percentage of total population in OECD member countries in the years 1996–2003 (According to BMI).[24]
Epidemiological data show that, among high-income countries, obesity prevalence is highest in the United States and Mexico.[7]
### Canada[edit]
Main article: Obesity in Canada
The number of Canadians who are obese has risen dramatically in recent years. In 2004, direct measurements of height and weight found 23.1% of Canadians older than 18 had a BMI greater than 30. When broken down into degrees of obesity, 15.2% were class I (BMI 30–34.9), 5.1% were class II (BMI 35–39.9), and 2.7%, class III (BMI > 40). This is in contrast to self-reported data the previous year of 15.2% and in 1978/1979 of 13.8%. The greatest increases occurred among the more severe degrees of obesity; class III obesity increased from 0.9% to 2.7% from 1978/1979 to 2004. Obesity in Canada varies by ethnicity; people of Aboriginal origin have a significantly higher rate of obesity (37.6%) than the national average.[35]
In children obesity has substantially increased between 1989 and 2004 with rates in boys increasing from 2% to 10% and rates among girls increasing from 2% to 9%.[36]
### Mexico[edit]
Main article: Obesity in Mexico
Mexico has one of the highest rates of obesity among OECD countries, second only to the United States. To combat the epidemic, in 2014 Mexico implemented new taxes levied on food with excessive energy content and on sugar-sweetened beverages.[7]
### United States[edit]
Main article: Obesity in the United States
The increase in obesity rates in the US as seen from 1985 to 2010 to the point where every state has at least a 20% obesity rate has caused it to become a significant focus of public health in recent years.
The percent of people per state with a BMI greater than 30 from 2011.[37]
> 30%
25% to < 30%
20% to < 25%
15% to < 20%
10% to < 15%
< 10%
No Data
Obesity rates in the United States have nearly tripled since the 1960s. In 1962, about 13% of adult Americans were obese,[38] and by 2002, obesity rates reached 33% of the adult population.[39] According to the National Health and Nutrition Examination Study collected between the 1970s and 2004, the prevalence of overweight and obesity increased steadily among all groups of Americans.[40][41] The numbers continue to rise; as of 2007, 33% of men and 36% of women were obese,[42] and by 2015–2016, 39.6% of the total adult population (37.9% of men and 41.1% of women) had obesity.[43] As of 2017-2018, 42.4% of U.S. adults aged 20 and over were obese (43% for men and 41.9% for women).[44]
Obesity rates vary between diverse social groups, with some racial groups and low-income individuals more likely to be obese while other minorities show lower rates. As of 2014 the rates were as low as 12% for non-Hispanic Asian women and as high as 57% among African American women.[45][46]
The incidence of obesity also varies with geography. The American South has been referred to as the "Stroke belt", "Obesity belt", or "Diabetes belt", to reflect the fact that residents of the region have high rates of these three conditions, compared to people of the same race/ethnicity elsewhere in the country.[47]
Based on a study in 2008, estimates of obesity that rely on self-reported data arrive at a rate of 22% among non-Hispanic white females, whereas studies that involve direct measurement show that the rate was closer to 34% at that time.[48]
The prevalence of class III (morbid) obesity (BMI ≥40) has increased the most dramatically, from 1.3% in the late 1970s,[49] to 2.9% in 1988-94, to 4.7% in 2000,[50] to 5.7% in 2008, and to 7.7% in 2014.[51] Among African American women, its prevalence is estimated to be as high as 17%.[52]
The rate of increase in the incidence of obesity began to slow in the 2000s, but as of 2014, obesity, severe obesity, and obesity in children continued to rise.[42][53]
Prevalence of obesity between 1960 and 2004 in the USA.
Obesity is one of the leading health issues in the United States, resulting in about 300,000 excess deaths per year.[54] However, in 2005 using different methodology, research at the Centers for Disease Control and Prevention produced a nationwide estimate of 129,000 excess deaths per year relative to individuals with a BMI of 21 to 25.[55]
## South America and the Caribbean[edit]
Surveys in different Caribbean countries found that 7-20% of males and 22-48% of females over the age of 15 are obese.[56] Trinidad and Tobago has the highest obesity in the Caribbean, with over 30% of its adult population overweight, ranking the country sixth in the world.[57] The Bahamas have a major obesity epidemic: 48.6% of people between 15 and 64 years old are obese.[58] A female adolescent from the Bahamas is more likely to be overweight than her male counterpart. In Jamaica, 7.2% of men over the age of 20 are obese, while 31.5% of women are obese.[59]
## Oceania and the Pacific[edit]
According to 2007 statistics from the World Health Organization (WHO), Australia has the third-highest prevalence of overweight adults in the English-speaking world.[60]
### Australia[edit]
Main article: Obesity in Australia
According to self-reported and measured results of the 2007–2008 National Health Survey, 61% of Australians were overweight (above a 25 BMI), with 24% falling into the "obese" category (above a 30 BMI). Men were more likely to be overweight (67.7%) and obese (25.5%) than women (30.9% and 23.4% respectively).[61]
### New Zealand[edit]
Main article: Obesity in New Zealand
Obesity in New Zealand has become an important national health concern in recent years, with high numbers of people afflicted in every age and ethnic group.[62] In 2011/12, 28.4% of New Zealand adults were obese,[63] a number only surpassed in the English-speaking world by the United States.[60][62]
### South Pacific[edit]
Main article: Obesity in the Pacific
See also: Obesity in Nauru
Many of the island nations of the South Pacific have very high rates of obesity. Nauru has the highest rates of obesity in the world (94.5%) followed by Samoa, the Federated States of Micronesia, and the American Samoa. Being big has traditionally been associated with health, beauty, and status and many of these beliefs remain prevalent today.[64]
## See also[edit]
* Epidemiology of childhood obesity
* Epidemiology of metabolic syndrome
* Obesogen
* The Big Issue
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## External links[edit]
* World Health Organisation Global Database on Body Mass Index
* Ogden, Cynthia L.; et al. (2013). Prevalence of obesity among adults: United States, 2011–2012. Hyattsville, Md.: U.S. Department of Health and Human Services, Centers for Disease Control and Prevention, National Center for Health Statistics.
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*[v]: View this template
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*[c.]: circa
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*[IM]: intramuscular injection
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
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*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
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*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
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*[%DV]: Percentage of Daily Value
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|
Epidemiology of obesity
|
None
| 25,996 |
wikipedia
|
https://en.wikipedia.org/wiki/Epidemiology_of_obesity
| 2021-01-18T18:38:46 |
{"wikidata": ["Q5382727"]}
|
CADASIL
Other namesCADASIL syndrome
Brain MRI from patients with CADASIL showing multiple lesions.
SpecialtyNeurology, cardiology, medical genetics
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19.[1] The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease.[2][3]
The condition was identified and named by French researchers Marie-Germaine Bousser and Elisabeth Tournier-Lasserve in the 1990s.[4][5]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 In popular culture
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
CADASIL may start with attacks of migraine with aura or subcortical transient ischemic attacks or strokes, or mood disorders between 35 and 55 years of age. The disease progresses to subcortical dementia associated with pseudobulbar palsy and urinary incontinence.[citation needed]
Ischemic strokes are the most frequent presentation of CADASIL, with approximately 85% of symptomatic individuals developing transient ischemic attacks or stroke(s). The mean age of onset of ischemic episodes is approximately 46 years (range 30–70). A classic lacunar syndrome occurs in at least two-thirds of affected patients while hemispheric strokes are much less common. It is worthy of note that ischemic strokes typically occur in the absence of traditional cardiovascular risk factors. Recurrent silent strokes, with or without clinical strokes, often lead to cognitive decline and overt subcortical dementia. A case of CADASIL presenting as schizophreniform organic psychosis has been reported.[6]
## Pathophysiology[edit]
The underlying pathology of CADASIL is progressive hypertrophy of the smooth muscle cells in blood vessels. Autosomal dominant mutations in the Notch 3 gene (on the long arm of chromosome 19) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth muscle cells both in cerebral and extracerebral vessels,[7] seen as granular osmiophilic deposits on electron microscopy.[8] Leukoencephalopathy follows. Depending on the nature and position of each mutation, a consensus significant loss of betasheet structure of the Notch3 protein has been predicted using in silico analysis.[9]
## Diagnosis[edit]
A micrograph showing punctate immunostaining (brown) with a Notch 3 antibody, as is characteristic in CADASIL.
MRIs show hypointensities on T1-weighted images and hyperintensities on T2-weighted images, usually multiple confluent white matter lesions of various sizes, are characteristic. These lesions are concentrated around the basal ganglia, peri-ventricular white matter, and the pons, and are similar to those seen in Binswanger disease.[2][10] These white matter lesions are also seen in asymptomatic individuals with the mutated gene.[11] While MRI is not used to diagnose CADASIL, it can show the progression of white matter changes even decades before onset of symptoms.[citation needed]
The definitive test is sequencing the whole Notch 3 gene, which can be done from a sample of blood. However, as this is quite expensive and CADASIL is a systemic arteriopathy, evidence of the mutation can be found in small and medium-size arteries. Therefore, skin biopsies are often used for the diagnosis.[12][13]
## Treatment[edit]
No specific treatment for CADASIL is available. While most treatments for CADASIL patients' symptoms – including migraine and stroke – are similar to those without CADASIL, these treatments are almost exclusively empiric, as data regarding their benefit to CADASIL patients is limited.[14] Antiplatelet agents such as aspirin, dipyridamole, or clopidogrel might help prevent strokes; however, anticoagulation may be inadvisable given the propensity for microhemorrhages.[15] Control of high blood pressure is particularly important in CADASIL patients.[14] Short-term use of atorvastatin, a statin-type cholesterol-lowering medication, has not been shown to be beneficial in CADASIL patients' cerebral hemodynamic parameters,[16] although treatment of comorbidities such as high cholesterol is recommended.[17] Stopping oral contraceptive pills may be recommended.[18] Some authors advise against the use of triptan medications for migraine treatment, given their vasoconstrictive effects,[19] although this sentiment is not universal.[17] In this regard, the advent of the "Ditans" such as Lasmiditan, lacking vasoconstrictive effect, and the "Gepants" such as Ubrogepant and Rimegepant, are attractive alternatives, albeit not yet field-tested in this condition. As with other individuals, people with CADASIL should be encouraged to quit smoking.[20]
In one small study, around 1/3 of patients with CADASIL were found to have cerebral microhemorrhages (tiny areas of old blood) on MRI.[15]
L-arginine, a naturally occurring amino acid, has been proposed as a potential therapy for CADASIL,[21] but as of 2017 there are no clinical studies supporting its use.[18] Donepezil, normally used for Alzheimer's Disease, was not shown not to improve executive functioning in CADASIL patients.[22]
## In popular culture[edit]
John Ruskin has been suggested to have suffered from CADASIL.[23] Ruskin reported in his diaries having visual disturbances consistent with the disease, and it has also been suggested that it might have been a factor in causing him to describe James Whistler's Nocturne in Black and Gold – The Falling Rocket as "ask[ing] two hundred guineas for throwing a pot of paint in the public's face". This resulted in the famous libel trial that resulted in a jury's awarding Whistler one farthing damages.[23]
Recent research into the illness of philosopher Friedrich Nietzsche has suggested that his mental illness and death may have been caused by CADASIL rather than tertiary syphilis.[24] Likewise, the early death of the composer Felix Mendelssohn, at age 37, from a stroke has been potentially linked to CADASIL. His sister, Fanny Mendelssohn, was similarly affected.[25]
## See also[edit]
* Proteopathy
* CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)
## References[edit]
1. ^ Joutel A, Corpechot C, Ducros A, et al. (October 1996). "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia". Nature. 383 (6602): 707–10. Bibcode:1996Natur.383..707J. doi:10.1038/383707a0. PMID 8878478.
2. ^ a b Chabriat H, Vahedi K, Iba-Zizen MT, et al. (October 1995). "Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy". Lancet. 346 (8980): 934–9. doi:10.1016/s0140-6736(95)91557-5. PMID 7564728.
3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 545. ISBN 978-0-7216-2921-6.
4. ^ "History of CADASIL".
5. ^ Chabriat, H.; Joutel, A.; Vahedi, K.; Iba-Zizen, M. T.; Tournier-Lasserve, E.; Bousser, M. G. (1996). "[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)] - Abstract". Journal des Maladies Vasculaires. 21 (5): 277–82. PMID 9026542.
6. ^ Ho, Cyrus S.H.; Mondry, Adrian (2015). "CADASIL presenting as schizophreniform organic psychosis". General Hospital Psychiatry. 37 (3): 273.e11–273.e13. doi:10.1016/j.genhosppsych.2015.02.006. PMID 25824603.
7. ^ Joutel A, Andreux F, Gaulis S, et al. (March 2000). "The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients". J. Clin. Invest. 105 (5): 597–605. doi:10.1172/JCI8047. PMC 289174. PMID 10712431.
8. ^ Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D (1995). "Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy". Acta Neuropathol. 89 (6): 500–12. doi:10.1007/BF00571504. PMID 7676806.
9. ^ Vlachakis D, Champeris Tsaniras S, Ioannidou K, Papageorgiou L, Baumann M, Kossida S (October 2014). "A series of Notch3 mutations in CADASIL; insights from 3D molecular modelling and evolutionary analyses". Journal of Molecular Biochemistry. 3 (3): 97–105.
10. ^ Ropper AH, Brown RH, eds. (2005). "Cerebrovascular Diseases". Adams and Victor's Principles of Neurology. New York: McGraw-Hill. ISBN 978-0-07-141620-7.
11. ^ Tournier-Lasserve E, Joutel A, Melki J, et al. (March 1993). "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12". Nat. Genet. 3 (3): 256–9. doi:10.1038/ng0393-256. PMID 8485581.
12. ^ Joutel A, Favrole P, Labauge P, et al. (December 2001). "Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis". Lancet. 358 (9298): 2049–51. doi:10.1016/S0140-6736(01)07142-2. PMID 11755616.
13. ^ Ueda M, Nakaguma R, Ando Y (March 2009). "[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]". Rinsho Byori (in Japanese). 57 (3): 242–51. PMID 19363995.
14. ^ a b André, Charles (April 2010). "CADASIL: pathogenesis, clinical and radiological findings and treatment". Arq. Neuro-Psiquiatr. 68 (2): 287–99. doi:10.1590/S0004-282X2010000200026. PMID 20464302.
15. ^ a b Lesnik Oberstein, S. A.; van den Boom, R.; van Buchem, M. A.; van Houwelingen, H. C.; Bakker, E.; Vollebregt, E.; Ferrari, M. D.; Breuning, M. H.; Haan, J. (2001-09-25). "Cerebral microbleeds in CADASIL". Neurology. 57 (6): 1066–1070. doi:10.1212/wnl.57.6.1066. ISSN 0028-3878. PMID 11571335.
16. ^ Peters, N (15 September 2007). "Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL". J Neurol Sci. 260 (1–2): 100–105. doi:10.1016/j.jns.2007.04.015. PMID 17531269.
17. ^ a b Rutten, Julie; Lesnik Oberstein, Saskia A.J. (1 January 1993). "Cadasil". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C.; Smith, Richard J.H.; Stephens, Karen (eds.). GeneReviews. University of Washington, Seattle. PMID 20301673 – via PubMed.
18. ^ a b "Questions about cadasil".
19. ^ "CADASIL - NORD (National Organization for Rare Disorders)".
20. ^ "CADASIL - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
21. ^ Peters, N (August 2008). "Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL". Journal of Neurology. 255 (8): 1203–1208. doi:10.1007/s00415-008-0876-9. PMID 18537053.
22. ^ Susman, Ed (2008-04-03). "Donepezil Fails to Improve Cognition in Patients with CADASI... : Neurology Today". Neurology Today. 8 (7): 25. doi:10.1097/01.NT.0000316148.27827.bc.
23. ^ a b Kempster PA, Alty JE (September 2008). "John Ruskin's relapsing encephalopathy". Brain. 131 (Pt 9): 2520–5. doi:10.1093/brain/awn019. PMID 18287121.
24. ^ Hemelsoet D, Hemelsoet K, Devreese D (March 2008). "The neurological illness of Friedrich Nietzsche". Acta Neurol Belg. 108 (1): 9–16. PMID 18575181.
25. ^ "Blogger".
## Further reading[edit]
Wikimedia Commons has media related to CADASIL syndrome.
* Lesnik Oberstein SA, Boon EM, Terwindt GM (June 28, 2012). CADASIL. University of Washington, Seattle. PMID 20301673. NBK1500. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle.
## External links[edit]
* cureCADASIL (US) [1]
* CADASIL Support UK [2]
* asociacion cadasil espana (Spain) [3]
* United Leukodystrophy Foundation: CADASIL
* A patient story at The New York Times
Classification
D
* ICD-10: I67.850
* OMIM: 125310
* MeSH: D046589
* DiseasesDB: 2161
External resources
* Patient UK: CADASIL
* GeneReviews: CADASIL
* Orphanet: 136
* v
* t
* e
Cerebrovascular diseases including stroke
Ischaemic stroke
Brain
* Anterior cerebral artery syndrome
* Middle cerebral artery syndrome
* Posterior cerebral artery syndrome
* Amaurosis fugax
* Moyamoya disease
* Dejerine–Roussy syndrome
* Watershed stroke
* Lacunar stroke
Brain stem
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* Medulla
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* Lateral pontine syndrome / Millard-Gubler
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Cerebellum
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* precerebral
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* Vertebrobasilar insufficiency
* Subclavian steal syndrome
Classification
* Brain ischemia
* Cerebral infarction
* Classification
* Transient ischemic attack
* Total anterior circulation infarct
* Partial anterior circulation infarct
Other
* CADASIL
* Binswanger's disease
* Transient global amnesia
Haemorrhagic stroke
Extra-axial
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* v
* t
* e
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G protein
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* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
CADASIL
|
c0751587
| 25,997 |
wikipedia
|
https://en.wikipedia.org/wiki/CADASIL
| 2021-01-18T18:46:48 |
{"gard": ["1049"], "mesh": ["D046589"], "umls": ["C1272305"], "orphanet": ["136"], "wikidata": ["Q1022718"]}
|
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
|
None
| 25,998 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94066
| 2021-01-23T17:10:07 |
{"icd-10": ["Q87.8"]}
|
amnesia for specific events
Lacunar amnesia
SpecialtyPsychology
Lacunar amnesia is the loss of memory about a specific event. This specific form of amnesia is caused by brain damage in the limbic system which is responsible for our memories and emotions. When the damage occurs it leaves a lacuna, or a gap, in the record of memory within the cortex region of the brain. There is a general belief that certain emotions from the lost memory may be triggered without the recollection of the event.
## Characteristics[edit]
## Contents
* 1 Characteristics
* 2 Criminal cases
* 3 In popular culture
* 4 References
Daniel Goleman, in his book Vital Lies, Simple Truths, defines a lacuna as:
...the sort of mental apparatus that diversionary schemas represent. A lacuna is, then, the attentional mechanism that creates a defensive gap in awareness. Lacunas, in short, create blind spots.[1]
Lacunar amnesia has also been known to be attributed to alcoholism, drug treatment, and withdrawal in some cases. After using these substances a person may experience a loss of memory of a specific event temporarily or even permanently.[2]
Steven Johnson, (the author of Mind Wide Open: Your Brain and the Neuroscience of Everyday Life) also states that:
"Scientists believe memories are captured and stored by two separate parts of the brain, the hippocampus, the normal seat of memory, and the amygdala, one of the brain's emotional centers. People who, due to hippocampus damage, are incapable of forming long-term memories can still form subconscious memories of traumatic events if their amygdala is intact."This may be related to erasure or reconsolidation of memories. Attempts have been made to remember memories that have been consolidated and reconsolidate them under desired conditions.[3]
According to Alex Chadwick speaking on NPR:
> Some scientists now believe that memories effectively get rewritten every time they're activated. Studies on rats suggest that if you block a crucial chemical process during the execution of a learned behavior - pushing a lever to get food, for instance - the learned behavior disappears. The rat stops remembering. Theoretically, if you could block that chemical reaction in a human brain while triggering a specific memory, you could make a targeted erasure. Think of a dreadful fight with your girlfriend while blocking that chemical reaction, and zap! The memory's gone.[4]
This idea of the reconsolidation of memories has also been used in cases of PTSD to lessen or alleviate some of the symptoms associated with the illness.[5]
## Criminal cases[edit]
This condition is often claimed in the instance of criminal cases. The victim or assailant will insist that they have lost their memory about the event in question, but the remainder of their memory, both anterograde and retrograde, remain intact. There is only one specific memory or recollection of an event that is impaired.[2] This is normally paired or in conjunction with the claim of insanity.
## In popular culture[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Lacunar amnesia" – news · newspapers · books · scholar · JSTOR (November 2020) (Learn how and when to remove this template message)
This type of amnesia is used as a plot element in movies such as Eternal Sunshine of the Spotless Mind and Memento. Both of the amnesiac conditions in these movies represent gaps in the memory instead of long-term or short-term loss.
## References[edit]
1. ^ Goleman, Daniel (1985). Vital Lies, Simple Truths-The Psychology of Self-Deception. Bloomsbury.
2. ^ a b Benezech, M. "Lacunar amnesia and criminal behavior: Realities and medicolegal consequences in 7 cases". Annales Médico-Psychologiques. 136: 918–931.
3. ^ Przybyslawski, Jean; Sara, Susan J. (March 1997). "Reconsolidation of memory after its reactivation". Behavioural Brain Research. 84 (1–2): 241–246. doi:10.1016/s0166-4328(96)00153-2. ISSN 0166-4328. PMID 9079788.
4. ^ Analysis: Concepts in memory-loss movies not so far-fetched, NPR Special; 3/23/2004; Alex Chadwick.
5. ^ Lee, Jonathan L.C. (August 2009). "Reconsolidation: maintaining memory relevance". Trends in Neurosciences. 32 (8): 413–420. doi:10.1016/j.tins.2009.05.002. ISSN 0166-2236. PMC 3650827. PMID 19640595.
[1]
1. ^ Johnson, Steven, 1968- (2004). Mind wide open : your brain and the neuroscience of everyday life. New York: Scribner. ISBN 0-7432-4165-7. OCLC 53289868.CS1 maint: multiple names: authors list (link)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
|
Lacunar amnesia
|
None
| 25,999 |
wikipedia
|
https://en.wikipedia.org/wiki/Lacunar_amnesia
| 2021-01-18T18:57:43 |
{"icd-9": ["780.93"], "icd-10": ["R41.3"], "wikidata": ["Q2555537"]}
|
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