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Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.
## Epidemiology
Prevalence of the primary form (PVT not associated with cirrhosis or a tumour) is estimated at between 1 and 9/100,000. PVT may occur at any age.
## Clinical description
Acute thrombosis may be asymptomatic or may manifest as abdominal pain, fever and intestinal ischemia (ileus, rectal bleeding, and ascites). In some cases, intestinal necrosis (manifesting as peritonitis and multivisceral failure) may occur if treatment is delayed. Chronic PVT is associated with cavernous transformation resulting in portal hypertension. PVT may be discovered fortuitously as a result of investigations for hypersplenism or intestinal varices. Haemorrhage due to rupture of these varices is a major complication. Portal cholangiopathy (due to biliary compression resulting from cavernous transformation) leads to calculus or cholestasis in rare cases.
## Etiology
The most frequent causes of PVT are advanced cirrhosis and malignant tumours in adults, and neonatal omphalitis or cannulation of the umbilical vein in children. In the absence of a tumour or advanced cirrhosis, PVT may be caused by localised intra-abdominal inflammation or be associated with a general prothrombotic state caused by a myeloproliferative syndrome (25% of cases), G20210A mutations in the factor II (prothrombin) gene (10% of cases), antiphospholipid syndrome, or by deficiencies of antithrombin, protein C, protein S or factor V Leiden. PVT is generally caused by an association of these causes.
## Diagnostic methods
Diagnosis of acute PVT or cavernous transformation can be easily established through non-invasive imaging techniques: Doppler ultrasound and tomodensitometry. MRI is a useful tool for diagnosing portal cholangiopathy. It is essential to search for the local or generalised cause of PVT.
## Differential diagnosis
Differential diagnosis should include all other causes of abdominal pain (with or without fever) for acute PVT and all other causes of portal hypertension without hepatic insufficiency for chronic PVT.
## Genetic counseling
Although some causes of PVT are hereditary, PVT is not an inherited disease. Genetic counselling should be proposed for patients with a hereditary predisposition for thrombosis.
## Management and treatment
Treatment of acute PVT includes administration of anticoagulants (for 3 to 6 months) and treatment of the underlying causative factor(s). Permeability is restored after treatment in 10-40% of cases. Exploratory laparotomy and intestinal resection may be necessary if intestinal necrosis is present. In chronic PVT, the portal hypertension is treated according to the same protocols as those established for cirrhosis. If management of the portal hypertension is satisfactory, long-term anticoagulant therapy is recommended for patients in a permanent prothrombotic state or in case of extension to the superior mesenteric vein.
## Prognosis
For patients receiving early diagnosis and appropriate treatment, the prognosis is good but varies depending on the associated conditions and age at onset.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Primitive portal vein thrombosis
|
c0155773
| 7,900 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=854
| 2021-01-23T17:48:49 |
{"umls": ["C0155773"], "icd-10": ["I81"], "synonyms": ["Non-cirrhotic portal vein thrombosis"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).
Mapping
In a case-control genomewide association study for knee osteoarthritis using approximately 100,000 single-nucleotide polymorphisms (SNPs) and involving 3,586 individuals, Miyamoto et al. (2008) found strongest association with SNPs on chromosome 3p24.3 in the novel gene DVWA (COL6A4P1; 612397). Several DVWA SNPs were significantly associated with knee osteoarthritis in 2 independent Japanese case-control cohorts. This association was replicated in a Japanese population cohort and in a Han Chinese case-control cohort (combined P = 7.3 x 10(-11)). DVWA protein binds to beta-tubulin (TUBB; 191130), and the binding is influenced by 2 highly associated missense SNPs in almost complete linkage disequilibrium, rs11718863 (Y169N) and rs7639618 (C260Y), located in the second von Willebrand factor A (VWA) domain of the DVWA protein. The tyr169-cys260 isoform of DVWA, which was overexpressed in knee osteoarthritis, showed weaker interaction with beta-tubulin than 3 other tested isoforms.
Meulenbelt et al. (2009) genotyped 1,120 knee osteoarthritis (OA) cases, 1,482 hip OA cases, and 2,147 controls, all of white European descent, at 3 SNPs (rs7639618, rs11718863, and rs9864422) in the DVWA gene. Metaanalysis including data from Miyamoto et al. (2008) provided evidence for global association of rs7639618 with knee OA (odds ratio of 1.29, p = 2.70 x 10(-5)). This effect, however, showed moderate heterogeneity, and rs7639618 was not independently associated with knee OA in Europeans. No association was observed with hip OA in Europeans. The authors suggested that there may be global relevance for rs7639618 among knee OA cases; however, the apparent lower effect size in combination with the higher risk allele frequency in the European samples highlighted the ethnic differences in effects of discovered OA susceptibility genes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
OSTEOARTHRITIS SUSCEPTIBILITY 6
|
c0409959
| 7,901 |
omim
|
https://www.omim.org/entry/612401
| 2019-09-22T16:01:33 |
{"mesh": ["D020370"], "omim": ["612401"], "icd-10": ["M17", "M17.9"], "synonyms": ["Alternative titles", "OSTEOARTHRITIS OF KNEE"]}
|
A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Pulmonary artery hypoplasia
|
c0265910
| 7,902 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99083
| 2021-01-23T18:10:16 |
{"icd-10": ["Q25.7"], "synonyms": ["PAH", "Unilateral Pulmonary Artery Hypoplasia"]}
|
The congenital absence of the gluteal muscle was described in 1976, as occurring in a brother and sister with absence of gluteal muscles and with spina bifida occulta. It was thought to be caused by an autosomal recessive gene.
There was a case of a 28 month old with renal ectopia who showed absence of the gluteal muscle with no spina bifida occulta. This is the only confirmed case of absence of gluteal muscle without spina bifida.[1]
## References[edit]
1. ^ Vigo, G.; Toldo, I.; De Grandis, D.; Beltrame, V.; Sartori, S.; Suppiej, A. (2015-05-01). "PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report". European Journal of Paediatric Neurology. Abstracts of the 11th EPNS Congress. 19: S68–S69. doi:10.1016/S1090-3798(15)30226-9. ISSN 1090-3798.
* Carnevale A, del Castillo V, Sotillo AG, Larrondo J (1976). "Congenital absence of gluteal muscles. Report of two sibs". Clin Genet. 10 (3): 135–8. doi:10.1111/j.1399-0004.1976.tb00025.x. PMID 786514.
This article about a congenital malformation is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Absence of gluteal muscle
|
c1856398
| 7,903 |
wikipedia
|
https://en.wikipedia.org/wiki/Absence_of_gluteal_muscle
| 2021-01-18T18:44:42 |
{"gard": ["8518"], "umls": ["C1856398"], "wikidata": ["Q4669696"]}
|
Properdin deficiency
This condition is inherited in an x-linked recessive manner
Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative C3 convertase, is deficient.[1] Affected individuals are susceptible to fulminant meningococcal disease.
## References[edit]
1. ^ van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (July 2000). "Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies". Eur. J. Hum. Genet. 8 (7): 513–8. doi:10.1038/sj.ejhg.5200496. PMID 10909851.
## External links[edit]
Classification
D
* ICD-10: D84.1
* OMIM: 312060
* MeSH: C537241
External resources
* Orphanet: 2966
* v
* t
* e
Lymphoid and complement disorders causing immunodeficiency
Primary
Antibody/humoral
(B)
Hypogammaglobulinemia
* X-linked agammaglobulinemia
* Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia
* IgA deficiency
* IgG deficiency
* IgM deficiency
* Hyper IgM syndrome (1
* 2
* 3
* 4
* 5)
* Wiskott–Aldrich syndrome
* Hyper-IgE syndrome
Other
* Common variable immunodeficiency
* ICF syndrome
T cell deficiency
(T)
* thymic hypoplasia: hypoparathyroid (Di George's syndrome)
* euparathyroid (Nezelof syndrome
* Ataxia–telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
* Hyper IgM syndrome (1)
Severe combined
(B+T)
* x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
* Omenn syndrome
* ZAP70 deficiency
* Bare lymphocyte syndrome
Acquired
* HIV/AIDS
Leukopenia:
Lymphocytopenia
* Idiopathic CD4+ lymphocytopenia
Complement
deficiency
* C1-inhibitor (Angioedema/Hereditary angioedema)
* Complement 2 deficiency/Complement 4 deficiency
* MBL deficiency
* Properdin deficiency
* Complement 3 deficiency
* Terminal complement pathway deficiency
* Paroxysmal nocturnal hemoglobinuria
* Complement receptor deficiency
* 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
* Mohr–Tranebjærg syndrome
* Nasodigitoacoustic syndrome
X-linked dominant
* X-linked hypophosphatemia
* Focal dermal hypoplasia
* Fragile X syndrome
* Aicardi syndrome
* Incontinentia pigmenti
* Rett syndrome
* CHILD syndrome
* Lujan–Fryns syndrome
* Orofaciodigital syndrome 1
* Craniofrontonasal dysplasia
This genetic disorder 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
|
Properdin deficiency
|
c0398762
| 7,904 |
wikipedia
|
https://en.wikipedia.org/wiki/Properdin_deficiency
| 2021-01-18T18:41:50 |
{"gard": ["4513"], "mesh": ["C537241"], "umls": ["C0398762"], "orphanet": ["2966"], "wikidata": ["Q7250189"]}
|
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.
People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures.
The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy.
## Frequency
The prevalence of rippling muscle disease is unknown.
## Causes
Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. It may also help regulate calcium levels in muscle cells, which play a role in controlling muscle contraction and relaxation.
CAV3 gene mutations that cause rippling muscle disease result in a shortage of caveolin-3 protein in the muscle cell membrane. Researchers suggest that the reduction in caveolin-3 protein disrupts the normal control of calcium levels in muscle cells, leading to abnormal muscle contractions in response to stimulation.
In addition to rippling muscle disease, CAV3 gene mutations can cause other caveolinopathies including CAV3-related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.
Some people with rippling muscle disease do not have mutations in the CAV3 gene. The cause of the disorder in these individuals is unknown.
### Learn more about the gene associated with Rippling muscle disease
* CAV3
## Inheritance Pattern
Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern.
Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with rippling muscle disease or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family.
Autosomal recessive inheritance means that both copies of the CAV3 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. People with autosomal recessive rippling muscle disease generally have more severe signs and symptoms than do people with the autosomal dominant form.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Rippling muscle disease
|
c1838254
| 7,905 |
medlineplus
|
https://medlineplus.gov/genetics/condition/rippling-muscle-disease/
| 2021-01-27T08:24:39 |
{"gard": ["9164"], "mesh": ["C535686"], "omim": ["600332", "606072"], "synonyms": []}
|
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: "Autoimmune autonomic ganglionopathy" – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when to remove this template message)
Autoimmune autonomic ganglionopathy
SpecialtyNeurology
Autoimmune autonomic ganglionopathy (AAG) is a rare form of dysautonomia in which the patient’s immune system produces ganglionic anti-nicotinic acetylcholine receptor (AChR) antibodies, inhibiting ganglionic AChR currents and impairing transmission in autonomic ganglia.[1] Symptoms onset can be acute, subacute or gradual.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
Although symptoms of AAG can vary from patient to patient, symptoms are dysautonomia. Hallmarks include:
* Gastrointestinal dysmotility, including lack of appetite, nausea, constipation, diarrhea
* Anhidrosis (decreased ability to sweat), often preceded by excessive sweating
* Bladder dysfunction (neurogenic bladder)
* Small fiber peripheral neuropathy
* Severe orthostatic hypotension
* Pupillary dysfunction
* Syncope (fainting)
* Sicca syndrome (chronic dryness of the eyes and mouth) See: Xerostomia#Sicca syndrome
* No indication from the history or physical examination of cerebellar, striatal, pyramidal, and extrapyramidal dysfunction, as these features suggest the more serious multiple system atrophy.[2]
## Causes[edit]
The cause is generally either paraneoplastic syndrome or idiopathic. In idiopathic AAG, the body's own immune system targets a receptor in the autonomic ganglia, which is part of a peripheral nerve fiber. If the AAG is paraneoplastic, they have a form of cancer, and their immune system has produced paraneoplastic antibodies in response to the cancer.[2]
## Diagnosis[edit]
Traditional autonomic testing is used to aid in the diagnosis of AAG. These tests can include a tilt table test (TTT), thermoregulatory sweat test (TST), quantitative sudomotor autonomic reflex testing (QSART) and various blood panels. Additionally, a blood test showing high levels of the antibody ganglionic nicotenic acetylcholine receptor (gAChr) occur in about 50% of patients with AAG (seropositive AAG). The seronegative patients (those without detectable gAChR levels) are theorized to have one or more different antibodies responsible for the autonomic dysfunction. However, both seropositive and seronegative patients have been seen to respond to the same treatments. A paraneoplastic panel may also be ordered to rule out paraneoplastic syndrome.[3]
## Treatment[edit]
Where an underlying neoplasm is the cause, treatment of this condition is indicated in order to reduce progression of symptoms. For cases without a known cause, treatment involves suppression of the immune system with corticosteroid treatment, intravenous immunoglobulin, immunosuppressive agents like rituximab, myophenolate mofetil (Cellcept), or azathioprine (Imuran) or plasmapheresis.[4]
## See also[edit]
* Myasthenia gravis
* Dysautonomia
* Postural orthostatic tachycardia syndrome
* Multiple system atrophy
## References[edit]
1. ^ Steven Vernino, MD; Steve Hopkins & Zhengbei Wang, MD (2009). "Autonomic ganglia, acetylcholine receptor antibodies, and autoimmune ganglionopathy". Autonomic Neuroscience. 146 (1–2): 3–7. doi:10.1016/j.autneu.2008.09.005. PMC 2677210. PMID 18951069.
2. ^ a b Paola Sandroni & Phillip A. Low (2009). "Other Autonomic Neuropathies Associated with Ganglionic Antibody". Autonomic Neuroscience. 146 (1–2): 13–17. doi:10.1016/j.autneu.2008.10.022. PMC 2671239. PMID 19058765.
3. ^ Vernino, Steven; Low, Phillip A. (2012). "Autoimmune Autonomic Ganglionopathy". Primer on the Autonomic Nervous System. pp. 489–492. CiteSeerX 10.1.1.657.2841. doi:10.1016/B978-0-12-386525-0.00100-1. ISBN 9780123865250.
4. ^ Christopher H. Gibbons, MD, MMSc; Steven A. Vernino, MD & Roy Freeman, MD (2007). "Combined Immunomodulatory Therapy in Autoimmune Autonomic Ganglionopathy". Arch. Neurol. 65 (2): 213–217. doi:10.1001/archneurol.2007.60. PMID 18268189.CS1 maint: multiple names: authors list (link)
## External links[edit]
Classification
D
* ICD-10: G90.9, G13.0
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Autoimmune autonomic ganglionopathy
|
None
| 7,906 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_autonomic_ganglionopathy
| 2021-01-18T18:30:56 |
{"gard": ["11917"], "wikidata": ["Q18209712"]}
|
A number sign (#) is used with this entry because Kagami-Ogata syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.
Clinical Features
Epigenetic germline modification, or imprinting, leads to functional differences in gene expression throughout development, depending on parental origin. Genomic imprinting is typically revealed when both homologs of a chromosome pair are inherited exclusively from 1 parent. This condition is called uniparental disomy (UPD) and results in either overexpression or absence of a parent-specific transcript. For most chromosomes, no obvious phenotypic effect from UPD has been observed. However, UPD of certain chromosomes leads to clinically recognizable syndromes, and paternal UPD for chromosome 14 is one that causes a distinct disorder (Cotter et al., 1997; Kurosawa et al., 2002; Takada et al., 2000). Human paternal uniparental disomy for chromosome 14, UPD14(pat), presents with skeletal abnormalities, joint contractures, dysmorphic facial features, and developmental delay/mental retardation (Sutton et al., 2003). In humans, consistent radiographic findings include a narrow, bell-shaped thorax with caudal bowing of the anterior ribs, cranial bowing of the posterior ribs, and flaring of the iliac wings without shortening or dysplasia of the long bones. The axial skeleton is predominantly affected. Most reported cases of human parental UPD14 are characterized by inheritance of a Robertsonian translocation from the father, or have a de novo paternal isochromosome, as reviewed by Sutton and Shaffer (2000). Presumably, some of these individuals were trisomic for chromosome 14 at conception.
Uniparental isodisomy of chromosome 14 results in such a severe phenotype that it is often associated with spontaneous miscarriage. The abnormality has been detected in 1 of 81 miscarriages with a normal karyotype (Tsukishiro et al., 2005).
Kagami et al. (2005) reported 3 Japanese patients with paternal isodisomy for chromosome 14, including a 5.5-year-old girl, a male neonate, and a 6.5-year-old girl. Physical features at birth included a hairy forehead, protruding philtrum, micrognathia, small thorax, and abdominal wall defects. Radiographic studies showed a bell-shaped thorax with coat-hanger appearance of the ribs, but the thoracic deformity tended to ameliorate in the older children. Microsatellite analysis indicated full paternal isodisomy for chromosome 14 in younger girl and boy, and segmental paternal isodisomy for chromosome 14 distal to D14S981 at chromosome 14q23.3 in older girl. Methylation specific PCR assay for the differentially methylated region (DMR) of GTL2 (605636) at chromosome 14q32 yielded positive products with methylated primers in all 3 patients. The findings were consistent with the involvement of imprinted genes on chromosome 14q32 as critical components of the phenotype. Kagami et al. (2005) suggested that, if infants with this disorder survive respiratory insufficiency in infancy, they may improve with age.
Mattes et al. (2007) reported a female infant with paternal uniparental isodisomy of chromosome 14 with mosaicism for a supernumerary marker chromosome 14. She had a small thorax with coat-hanger-shaped ribs, kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares, contractures of the wrists with ulnar deviation bilaterally, diastasis recti, and marked muscle hypotonia. Other unusual features included vertical skin creases under the chin and stippled epiphyses of the humeri. She died at age 5 months due to respiratory infection. Cytogenetic studies showed a mosaic karyotype with 88% of cells showing the bisatellited markers and 12% showing no cytogenetic abnormality. Mattes et al. (2007) suggested that the presence of a supernumerary marker could be an important clue to the presence of UPD.
Nomenclature
The European Network of Imprinting Disorders designated the paternal imprinting disorder on chromosome 14 'Kagami-Ogata syndrome.'
Animal Model
Distal human chromosome 14 is homologous to distal mouse chromosome 12, and both regions contain imprinted genes. Sutton et al. (2003) showed that skeletal defects in UPD14(pat) in the human are recapitulated in the mouse model. Mice with UPD12(pat) have thin ribs with delayed ossification of the sternum, skull, and feet. In both mice and humans, the axial skeleton is predominantly affected. Sutton et al. (2003) hypothesized that there is an imprinted gene (or genes) on human chromosome 14 and mouse chromosome 12 that specifically affects rib/thoracic development and the maturation of ossification centers in the sternum, feet, and skull with little effect on long bone development.
INHERITANCE \- Autosomal dominant (loss of maternal allele) HEAD & NECK Head \- Frontal bossing (in some patients) Face \- Hairy forehead \- Prominent or protruding philtrum \- Elongated philtrum \- Micrognathia \- Retrognathia \- H-shaped chin creases (rare) Ears \- Small ears Eyes \- Blepharophimosis \- Short palpebral fissures (in some patients) Nose \- Depressed nasal bridge \- Anteverted nares (in some patients) Mouth \- Puckered lips (in some patients) Neck \- Short neck or webbed neck CARDIOVASCULAR Heart \- Atrial septal defect (in some patients) \- Ventricular septal defect (in some patients) \- Aortic valve anomaly (rare) \- Pulmonary stenosis (rare) Vascular \- Patent ductus arteriosus (rare) \- Pulmonary hypertension (rare) RESPIRATORY \- Lethal respiratory failure (in some patients) Larynx \- Laryngomalacia (rare) Lung \- Lung hypoplasia (rare) CHEST External Features \- Small bell-shaped thorax Ribs Sternum Clavicles & Scapulae \- Thin ribs (in some patients) \- Wavy or 'coat-hanger shaped' ribs (in some patients) \- Elongated clavicles (in some patients) ABDOMEN External Features \- Diastasis recti \- Omphalocele (in some patients) \- Inguinal hernia (in some patients) Liver \- Hepatomegaly (in some patients) Spleen \- Splenomegaly (rare) Gastrointestinal \- Feeding difficulty SKELETAL \- Joint contractures Skull \- Hypoplastic maxilla (rare) \- Hypoplastic mandible (rare) \- Small anterior fossa (rare) Spine \- Kyphoscoliosis (in some patients) Pelvis \- Hypoplasia of the ilia (in some patients) \- Coxa valga (in some patients) Limbs \- Short limbs Hands \- Long fingers (in some patients) SKIN, NAILS, & HAIR Hair \- Hairy forehead NEUROLOGIC Central Nervous System \- Hypotonia (in some patients) \- Developmental retardation (in some patients) \- Seizures (rare) PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios Placenta & Umbilical Cord \- Placental abnormality (in some patients) Delivery \- Premature delivery \- Low Apgar scores MISCELLANEOUS \- Imprinted disorder \- Mechanical ventilation may be required \- Thorax anomaly ameliorates with age (in some patients) MOLECULAR BASIS \- Caused by chromosome 14 paternal uniparental disomy ▲ 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
|
KAGAMI-OGATA SYNDROME
|
c1842466
| 7,907 |
omim
|
https://www.omim.org/entry/608149
| 2019-09-22T16:08:14 |
{"mesh": ["C536471"], "omim": ["608149"], "orphanet": ["96334", "254528", "254519", "254534"], "synonyms": ["Alternative titles", "UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14"]}
|
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Lissencephaly with cerebellar hypoplasia type A
|
None
| 7,908 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100011
| 2021-01-23T17:36:55 |
{"icd-10": ["Q04.3"]}
|
A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil 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
|
Axenfeld anomaly
|
c0266548
| 7,909 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98978
| 2021-01-23T16:57:02 |
{"mesh": ["C535679"], "omim": ["601631", "602482"], "umls": ["C0266548"], "icd-10": ["Q15.0"]}
|
Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving 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
|
Marburg acute multiple sclerosis
|
c4707723
| 7,910 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228157
| 2021-01-23T18:36:26 |
{"icd-10": ["G35"], "synonyms": ["Acute multiple sclerosis, Marburg type", "Acute multiple sclerosis, Marburg variant"]}
|
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Idiopathic inflammatory myopathy
|
c0751356
| 7,911 |
gard
|
https://rarediseases.info.nih.gov/diseases/9128/idiopathic-inflammatory-myopathy
| 2021-01-18T17:59:50 |
{"mesh": ["D009220"], "omim": ["160750"], "orphanet": ["98482"], "synonyms": ["Idiopathic inflammatory myopathy, familial", "IIM", "Myositis", "Idiopathic inflammatory myositis", "IMM"]}
|
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary from case to case, and may include an unusually small head size (microcephaly), a specific pattern of brain development (including partial or complete agenesis of the corpus callosum, reduced folds on the surface of the brain, and reduced white matter), intellectual disability, abnormal or involuntary movements, feeding problems, sleep disturbances, seizures, irritability and excessive crying, and limited communication and social skills. Both males and females may be affected. The condition is caused by changes involving the FOXG1 gene. In some cases, there are mutations within the gene; in others, there is a deletion of genetic material from the region of the long (q) arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition because one copy of the altered gene in each cell is sufficient to cause the disorder. While it is possible for parents to be carriers, most cases result from new mutations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
FOXG1 syndrome
|
c3150705
| 7,912 |
gard
|
https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome
| 2021-01-18T18:00:26 |
{"synonyms": ["FOXG1-related disorder"]}
|
Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.
## Epidemiology
Prevalence is estimated at 1/2,000-1/4,000.
## Etiology
Primary congenital hypothyroidism may be due to a developmental anomaly, also known as thyroid dysgenesis where the thyroid gland fails to develop normally, or may occur without a developmental anomaly as a result of an inborn error of thyroid hormone biosynthesis, also known as dyshormonogenesis, or as a result of thyroid-stimulating hormone (TSH) receptor mutations (see these terms). In iodine sufficient countries, 85% of permanent congenital hypothyroidism is due to thyroid dysgenesis. The remaining 10-15% of cases can be attributed to dyshormonogenesis or to defects in peripheral thyroid hormone transport, metabolism or action. Primary congenital hypothyroidism may also be idiopathic (see this term).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Primary congenital hypothyroidism
|
c3715197
| 7,913 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=226295
| 2021-01-23T16:59:19 |
{"icd-10": ["E03.0", "E03.1"]}
|
Paraneoplastic keratoderma
SpecialtyDermatology
Paraneoplastic keratoderma is a cutaneous condition characterized by a hornlike skin texture associated with an internal malignancy.[1]
## See also[edit]
* Keratoderma
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
* v
* t
* e
Skin lesion terminology
Macroscopic
Primary lesions
* flat
* Macule
* Patch
* elevated
* Papule
* Nodule
* Plaque
* fluid
* Vesicle
* Bulla
* Pustule
* Ulcer
* Erosion
* Telangiectasia
* Special initial lesions : Burrow
* Tunnel
* Comedo
* Scutulum
* Target lesion
* Herald patch
* Wheal
Secondary lesions
* Scale
* Crust
* Lichenification
* Excoriation
* Induration
* Atrophy
Microscopic
* keratin: Hyperkeratosis
* Parakeratosis
* Dyskeratosis
* Hypergranulosis
* Acanthosis
* Papillomatosis
* Acantholysis
* Spongiosis
* Hydropic swelling
* Exocytosis
* Vacuolization
* Erosion
* Ulceration
* Lentiginous
* v
* t
* e
Cutaneous keratosis, ulcer, atrophy, and necrobiosis
Epidermal thickening
* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum
* keratosis: Seborrheic keratosis
* Clonal seborrheic keratosis
* Common seborrheic keratosis
* Irritated seborrheic keratosis
* Seborrheic keratosis with squamous atypia
* Reticulated seborrheic keratosis
* Dermatosis papulosa nigra
* Keratosis punctata of the palmar creases
* other hyperkeratosis: Acanthosis nigricans
* Confluent and reticulated papillomatosis
* Callus
* Ichthyosis acquisita
* Arsenical keratosis
* Chronic scar keratosis
* Hyperkeratosis lenticularis perstans
* Hydrocarbon keratosis
* Hyperkeratosis of the nipple and areola
* Inverted follicular keratosis
* Lichenoid keratosis
* Multiple minute digitate hyperkeratosis
* PUVA keratosis
* Reactional keratosis
* Stucco keratosis
* Thermal keratosis
* Viral keratosis
* Warty dyskeratoma
* Waxy keratosis of childhood
* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata
Necrobiosis/granuloma
Necrobiotic/palisading
* Granuloma annulare
* Perforating
* Generalized
* Subcutaneous
* Granuloma annulare in HIV disease
* Localized granuloma annulare
* Patch-type granuloma annulare
* Necrobiosis lipoidica
* Annular elastolytic giant-cell granuloma
* Granuloma multiforme
* Necrobiotic xanthogranuloma
* Palisaded neutrophilic and granulomatous dermatitis
* Rheumatoid nodulosis
* Interstitial granulomatous dermatitis/Interstitial granulomatous drug reaction
Foreign body granuloma
* Beryllium granuloma
* Mercury granuloma
* Silica granuloma
* Silicone granuloma
* Zirconium granuloma
* Soot tattoo
* Tattoo
* Carbon stain
Other/ungrouped
* eosinophilic dermatosis
* Granuloma faciale
Dermis/
localized CTD
Cutaneous lupus
erythematosus
* chronic: Discoid
* Panniculitis
* subacute: Neonatal
* ungrouped: Chilblain
* Lupus erythematosus–lichen planus overlap syndrome
* Tumid
* Verrucous
* Rowell's syndrome
Scleroderma/
Morphea
* Localized scleroderma
* Localized morphea
* Morphea–lichen sclerosus et atrophicus overlap
* Generalized morphea
* Atrophoderma of Pasini and Pierini
* Pansclerotic morphea
* Morphea profunda
* Linear scleroderma
Atrophic/
atrophoderma
* Lichen sclerosus
* Anetoderma
* Schweninger–Buzzi anetoderma
* Jadassohn–Pellizzari anetoderma
* Atrophoderma of Pasini and Pierini
* Acrodermatitis chronica atrophicans
* Semicircular lipoatrophy
* Follicular atrophoderma
* Linear atrophoderma of Moulin
Perforating
* Kyrle disease
* Reactive perforating collagenosis
* Elastosis perforans serpiginosa
* Perforating folliculitis
* Acquired perforating dermatosis
Skin ulcer
* Pyoderma gangrenosum
Other
* Calcinosis cutis
* Sclerodactyly
* Poikiloderma vasculare atrophicans
* Ainhum/Pseudo-ainhum
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Paraneoplastic keratoderma
|
None
| 7,914 |
wikipedia
|
https://en.wikipedia.org/wiki/Paraneoplastic_keratoderma
| 2021-01-18T19:08:49 |
{"wikidata": ["Q7135462"]}
|
Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.
## Epidemiology
The exact annual incidence of this form of PS is not known but the incidence of all forms of PS is 1/100,000.
## Clinical description
Similar to PS type 2, patients with PS3 manifest severe midfacial underdevelopment. However, unlike PS type 2, patients with PS3 do not have a trilobated skull deformity but present with bicoronal craniosynostosis with turribrachycephaly and associated functional manifestations. Patients have broad medially deviated thumbs and halluces, and variable brachydactyly and syndactyly, as well as ankylosis of the elbow or knee. Choanal stenosis or atresia and laryngotracheal abnormalities are common, often with congenital airway compromise. Complications such as hydrocephalus and seizures are found. All patients have extreme proptosis, often causing exposure keratopathy. Some have amblyopia or optic atrophy causing severe visual impairment, as well as ptosis, strabismus, iris coloboma, refractive errors and cataracts. Developmental and intellectual delays are common. Given the severity of the disease manifestations and associated complications, the prognosis of PS3 is poor, with a high risk of early demise, although the potential for long-term survival may be increased by aggressive early treatment. Causes of death primarily involve respiratory and neurological complications.
## Etiology
Mutations in the FGFR2 gene (10q25.3-q26) involved in embryonic developmental cell signaling have been found to be causative for PS3.
## Genetic counseling
PS follows an autosomal dominant pattern of inheritance but is generally caused by de novo mutations, especially in the severe forms of the syndrome. Genetic counseling should be provided to affected families.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
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Pfeiffer syndrome type 3
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https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93260
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Lymphangioleiomyomatosis (LAM)
Other nameslymphangiomyomatosis, LAM
Figure A shows the location of the lungs and airways in the body. The inset image shows a cross-section of a healthy lung. Figure B shows a view of the lungs with LAM and a collapsed lung (pneumothorax). The inset image shows a cross-section of a lung with LAM.
SpecialtyPulmonology
Lymphangioleiomyomatosis (LAM) is a rare, progressive and systemic disease that typically results in cystic lung destruction. It predominantly affects women, especially during childbearing years.[1] The term sporadic LAM is used for patients with LAM not associated with tuberous sclerosis complex (TSC), while TSC-LAM refers to LAM that is associated with TSC.[2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Chest radiograph
* 4.2 Computed tomography
* 4.3 Ventilation-perfusion scans
* 4.4 Positron emission tomography
* 4.5 Abdominal imaging
* 4.6 Central nervous system imaging
* 4.7 Pulmonary function studies
* 4.8 Pathology
* 5 Treatment
* 5.1 Pneumothorax
* 5.2 Chylothorax
* 5.3 Angiomyolipoma
* 5.4 Lymphangioleiomyoma
* 5.5 Management-other
* 5.6 Medication
* 6 Prognosis
* 7 Epidemiology
* 8 Pregnancy
* 9 Society
* 10 In popular culture
* 11 See also
* 12 References
* 13 External links
## Signs and symptoms[edit]
The average age of onset is the early to mid 30s.[3][4][5][6] Exertional dyspnea (shortness of breath) and spontaneous pneumothorax (lung collapse) have been reported as the initial presentation of the disease in 49% and 46% of patients, respectively.[6]
Diagnosis is typically delayed 5 to 6 years.[3][4][5][6] The condition is often misdiagnosed as asthma or chronic obstructive pulmonary disease. The first pneumothorax, or lung collapse, precedes the diagnosis of LAM in 82% of patients.[7][8] The consensus clinical definition of LAM includes multiple symptoms:[citation needed]
* Fatigue
* Cough
* Coughing up blood (rarely massive)
* Chest pain
* Chylous complications arising from lymphatic obstruction, including
* Chylothorax
* Chylous ascites
* Chylopericardium
* Chyloptysis
* Chyluria
* Chyle in vaginal discharge
* Chyle in stool.
* Angiomyolipomas (fatty kidney tumors) are present in about 30% of patients with sporadic LAM and up to 90% of patients with TSC-LAM.[9][10] Angiomyolipomas can sometimes spontaneously bleed, causing pain or low blood pressure.
* Cystic lymphangiomas or lymph nodes with hypodense centers, which mimic necrotizing lymphomas, ovarian or renal cancers, or other malignancies can occur in the retroperitoneum, pelvis or mediastinum.[11][12][13][14]
Lung destruction in LAM is a consequence of diffuse infiltration by neoplastic smooth muscle-like cells that invade all lung structures including the lymphatics, airway walls, blood vessels and interstitial spaces.[15] The consequences of vessel and airway obstruction include chylous fluid accumulations, hemoptysis, airflow obstruction and pneumothorax. The typical disease course displays progressive dyspnea on exertion, spaced by recurrent pneumothoraces and in some patients, chylous pleural effusions or ascites.[16]
Most people have dyspnea on exertion with daily activities by 10 years after symptom onset. Many patients require supplemental oxygen over that interval.[7]
## Genetics[edit]
LAM occurs in two settings: in the disease tuberous sclerosis complex (TSC-LAM) and in a sporadic form, in women who do not have TSC (sporadic LAM).[17][18] In both settings, genetic evidence indicates that LAM is caused by inactivating or “loss of function” mutations in the TSC1 or TSC2 genes, which were cloned in 1997 and 1993 respectively.[19] The TSC1 gene is located on the long arm of chromosome 9 (9q34) and the TSC2 gene is located on the short arm of chromosome 16 (16p13). TSC-LAM occurs in women who have germline mutations in either the TSC1 or the TSC2 gene.[20]
Sporadic LAM is primarily associated with somatic TSC2 gene mutations.[21][22] Germline and somatic mutations in LAM include many types of mutations spread across the genes, with no clear “hot spots,” including missense changes, in-frame deletions and nonsense mutations.[20][21][22] Because of the large size of the genes (together they have more than 60 exons) and because mutations can be located virtually anywhere within the genes, mutation detection is often challenging.[citation needed]
On a cellular basis, LAM cells carry bi-allelic inactivation of the TSC2 genes, consistent with the “two-hit” tumor suppressor gene model.[23][24] The second hit event in LAM cells is often loss of the chromosomal region containing the wild-type copy of the TSC2 gene; this is referred to as loss of heterozygosity or LOH.[25] LOH can be detected in microdissected LAM cells,[21][26] in angiomyolipomas and lymph nodes from women with LAM,[27] and in circulating LAM cells (cells in blood and urine).[28][29]
Angiomyolipomas and pulmonary LAM cells from women with the sporadic form of LAM carry identical mutations in TSC2.[21] This, together with the fact that recurrent LAM after lung transplantation carries the same TSC2 mutations as the original LAM,[30] has led to the "benign metastasis" hypothesis that LAM cells can migrate or metastasize from one site to another.[17][18]
## Pathophysiology[edit]
A variable percentage of cells within the LAM lesion contain mutational inactivation of the Tuberous Sclerosis Complex (TSC1 or TSC2) tumor suppressor genes.[21][27][31] TSC1 mutations cause a less severe clinical phenotype than TSC2 mutations.[32] The discovery of TSC1/2 gene function as negative regulator of the mammalian target of rapamycin complex 1 (mTORC1)[33][34] led to successful use of rapamycin analog sirolimus in clinical trials[35][36] and FDA approval of sirolimus for treatment of LAM.
TSC1 and TSC2 form a tumor suppressor complex that regulates mammalian target of rapamycin (mTOR) signaling complex by directly controlling the activity of the small GTPase Rheb via the GTPase activating protein (GAP) domain of TSC2. Rheb binds to Raptor and controls the activity of mTOR complex 1 (mTORC1) that directly phosphorylates p70 S6 kinase (S6K1) and 4E-BP1. mTOR forms two physically and functionally distinct multiprotein complexes: the rapamycin-sensitive mTORC1 and the rapamycin-insensitive mTORC2.[37] MTORC1 consists of five proteins including Raptor that positively regulate mTOR activity.[38][39][40] MTORC2 consists of six proteins including mTOR and Rictor, which defines the activation level of mTORC2[41][42][43] and modulates the assembly of the actin cytoskeleton through Rho GTPases,[44][45][46] and Rac1 is required for mTOR activation.[47] In TSC2-null and human LAM cells, Rho GTPase activity is required for cell adhesion, motility, proliferation and survival.[48][49][50] Loss of TSC1/TSC2 in LAM induces uncontrolled LAM cell growth and increases LAM cell viability. Upregulation of STAT1 and STAT3[51][52][53][54] and autophagy[55] are known mediators of LAM cell viability and survival.
LAM cells behave, in many ways, like metastatic tumor cells.[56] LAM cells appear to arise from an extrapulmonary source and migrate to the lung.[21] Increased LAM cell migration and invasiveness is rescued by TSC2 re-expression.[49] The cellular and molecular mechanisms of neoplastic transformation and lung parenchymal destruction by LAM cells remain unknown. Lung remodeling may be mediated by an imbalance between matrix degrading metalloproteinases (MMPs) and their endogenous inhibitors TIMPs.[57] The invasive cell phenotype in LAM is associated with TIMP-3 downregulation[58] and TSC2-dependent upregulation of MMPs.[59][60][61][62]
Clinical and histopathological evidence demonstrate the lymphatic involvement in LAM.[14][57][63][64][65][66][67][68][excessive citations] The prevailing hypothesis is that LAM lesions secrete the lymphangiogenic factor VEGF-D, recruit lymphatic endothelial cells (LECs) that form lymphatic vessels and induce lung cysts.[57] VEGF-D serum levels are increased in LAM[69] compared to other cystic lung diseases, including pulmonary Langerhans cell histiocytosis, emphysema, Sjögren's syndrome, or Birt–Hogg–Dubé syndrome.[70] VEGF-D levels correlate with the severity of LAM, evaluated as a measure of CT grade (the abundance of chylous effusions and lymphatic involvement).[71] VEGF-D is a secreted homodimeric glycoprotein and a member of the VEGF family of growth factors, is known for its role in cancer lymphangiogenesis and metastasis.[72][73][74] Proteolytic processing of VEGF-D affects cognate binding to VEGFR3.[75] Histopathologically, LAM lesions are surrounded by cells that stain for VEGFR3, the lymphatic vessel endothelial hyaluronan receptor 1 (LYVE-1) and podoplanin.[63][76] VEGF-D binds to the receptor protein tyrosine kinases VEGFR-2 and VEGFR-349 in humans, and to VEGFR3 in mice.[74][77] Surprisingly, knock-out of VEGF-D in mice has little effect on lymphatic system development.[78] Nevertheless, during tumorigenesis VEGF-D promotes formation of tumor lymphatic vessels and facilitates metastatic spread of cancer cells.[73][74] However, little is known about a role of abnormal lymphatics and VEGF-D in LAM pathogenesis.[citation needed]
## Diagnosis[edit]
Micrograph of lymphangioleiomyomatosis. H&E stain.
CT scan of the lungs in a patient with lymphangioleiomyomatosis showing numerous thin walled cysts within the lungs.
LAM can come to medical attention in several ways, most of which trigger a chest CT. Thin-walled cystic change in the lungs may be found incidentally on CT scans of the heart, chest or abdomen (on the cuts that include lung bases) obtained for other purposes. HRCTs of TSC patients reveals that about 20% of women have cystic change by age 20 and about 80% of women have cystic changes after age 40.[79] LAM is sometimes revealed by chest CT in patients who present with an apparent primary spontaneous pneumothorax, but more often CT scanning is not ordered (in the United States) until recurrences occur. Progressive dyspnea on exertion without the exacerbations and remissions that are characteristic of asthma or COPD sometimes prompt a chest CT. A review of the CT by an expert familiar with LAM may increase diagnostic accuracy.[80] Chylothorax can also bring LAM to attention.
In some cases, a LAM diagnosis can be made with confidence on clinical grounds (without biopsy) in patients with typical cystic changes on high resolution CT scanning of the lung and findings of tuberous sclerosis, angiomyolipoma, lymphangioleiomyoma, chylothorax or serum VEGF-D > 800 pg/ml.[70][81]
If none of these clinical features are present, a biopsy may be necessary to make the diagnosis. Video-assisted thoracoscopic lung biopsy is the most definitive technique, but transbronchial biopsy has a yield of over 50% and can also be effective.[82][83] The safety of the latter procedure in patients with diffuse cystic disease and the profusion of cystic change that predicts an informative biopsy are incompletely understood, however. Cytology of chylous fluids, aspirated abdominal nodes or lymphatic masses can also be diagnostic.[63][84][85][86]
Diagram 1 outlines a proposed algorithm for the diagnosis of LAM.[citation needed]
Diagram 1. Outlines a proposed algorithm for the diagnosis of LAM. CT: computed tomography; TSC: tuberous sclerosis complex; AML: angiomyolipoma; VEGF-D: vascular endothelial growth factor D; TBBx: transbronchial biopsy; VATS: video-assisted thoracoscopic surgery.
### Chest radiograph[edit]
The chest radiograph may appear relatively normal, even late in the disease, or may suggest hyperinflation only. As the disease progresses, the chest radiograph often demonstrates diffuse, bilateral and symmetric reticulonodular opacities, cysts, bullae or a "honeycomb" (i.e., pseudo fibrotic) appearance.[3][6] Pleural effusion and pneumothorax may be apparent. Preservation of lung volumes in the presence of increased interstitial markings is a radiographic hallmark of LAM that helps distinguish it from most other interstitial lung diseases, in which alveolar septal and interstitial expansion tend to increase the lung's elastic recoil properties and decreased lung volumes.[citation needed]
### Computed tomography[edit]
The high-resolution computed tomography (HRCT) chest scan is better than the chest radiograph to detect cystic parenchymal disease and is almost always abnormal at the time of diagnosis, even when the chest radiograph and pulmonary function assessments are normal.[3][5][6][87] The typical CT shows diffuse round, bilateral, thin-walled cysts of varying sizes ranging from 1 to 45 mm in diameter.[5][6] The numbers of cysts varies in LAM from a few to almost complete replacement of normal lung tissue. The profusion of cysts tends to be milder in patients with TSC-LAM than S-LAM, perhaps explained in part because TSC-LAM patients typically receive earlier screening.[11] Pleural effusions are seen on CT in 12% of patients with S-LAM and 6% of patients with TSC-LAM. Other CT features include linear densities (29%), hilar or mediastinal lymphadenopathy (9%), pneumothorax, lymphangiomyoma, and thoracic duct dilation.[5][6] Ground-glass opacities (12%) suggest the presence of interstitial edema due to lymphatic congestion. In patients with TSC, nodular densities on HRCT may represent multifocal micronodular pneumocyte hyperplasia (MMPH) made up of clusters of hyperplastic type II pneumocytes.[79][88][89] MMPH may be present in males or females with TSC in the presence or absence of LAM, but not in patients with S-LAM.[90] MMPH is not typically associated with physiologic or prognostic consequences, but one case of respiratory failure due to MMPH has been reported.[91][92][93]
### Ventilation-perfusion scans[edit]
In one study ventilation-perfusion scans were abnormal in 34 of 35 LAM patients.[5] The most common abnormality was nonspecific diffuse heterogeneity, usually grossly matched. These authors also described an “unusual,” “speckling pattern” on the perfusion images in 74% of patients, consisting of “small, often peripheral collections of radioisotope.”[citation needed]
### Positron emission tomography[edit]
LAM and AML lesions do not typically exhibit increased uptake of 18F-fluorodeoxyglucose on positron emission tomography (PET) scanning.[94][95] Other neoplasms (or sources of inflammation) should therefore be considered in known or suspected LAM cases in which FDG-PET results are positive.[96]
### Abdominal imaging[edit]
Abnormalities on abdominal imaging, such as renal AML and enlarged lymphatic structures, are also common in LAM. Fat density within a renal mass is pathognomonic of AMLs. AMLs are more prevalent and more frequently bilateral and large in patients with TSC-LAM than in patients with S-LAM. AML size correlates with the prevalence of pulmonary cysts in patients with TSC.[9] One study CT imaged 256 patients with S-LAM and 67 with TSC-LAM. Renal AMLs were present in 32% of patients with S-LAM and 93% of patients with TSC-LAM. Hepatic AMLs were present in 2% of patients with S-LAM and 33% of patients with TSC-LAM. Ascites was uncommon, seen in fewer than 10% of patients with LAM. Abdominal lymphangiomatosis, often containing both cystic and solid components, were seen in 29% of patients with S-LAM and 9% of patients with TSC-LAM.[11]
### Central nervous system imaging[edit]
Central nervous system abnormalities, such as cortical or subependymal tubers and astrocytomas, are common in patients with TSC, including those with TSC-LAM, but are not found in women with S-LAM. Moss and associates[97] reported that women with S-LAM and TSC-LAM may have an increased incidence of meningioma, but the significance of that finding has been challenged.[98]
### Pulmonary function studies[edit]
Pulmonary function testing in patients with LAM may be normal or may reveal obstructive, restrictive or mixed patterns. Obstructive physiology is the most common abnormality. Quality-controlled lung function data were collected prospectively by the NHLBI Registry, a 5-year study of patients with LAM in centers around the United States. Spirometry revealed obstructive changes in about 57% of patients and normal results in 34%.[10] Restriction, defined as a total lung capacity less than the lower limit of normal, was seen in 11%. Hyperinflation was present in about 6%. The average residual volume was 125% of predicted when measured by plethysmography, but was only 103% of predicted determined with gas dilution methods, suggesting significant air trapping in noncommunicating airspaces. Approximately 25% of patients with obstructive physiology may demonstrate bronchodilator responsiveness but may be less in more severe obstruction.[99][100] The obstructive physiologic defect in LAM is primarily attributable to airflow obstruction.[101] The earliest change in initial pulmonary function testing in various case series was abnormal gas transfer, as assessed by the diffusing capacity for carbon monoxide (DLCO), described in 82% to 97% of patients.[3][4][6] It is not unusual for DLCO to be reduced out of proportion to forced expiratory volume in 1 second (FEV1).[99] Reduction in DLCO and increase in residual volume are generally considered to be LAM's earliest physiologic manifestations.[citation needed]
Cardiopulmonary exercise testing in a much larger cohort of patients with LAM revealed a reduced maximal oxygen consumption (VO2 max) and anaerobic threshold in 217 patients.[102][103] Exercise-induced hypoxemia was found even in patients who did not have resting abnormalities in FEV1 and DLCO. In most patients, exercise was thought to be ventilation limited, owing to airflow obstruction and increased dead-space ventilation.[citation needed]
Disease progression is usually accompanied by a progressive obstructive ventilatory defect. Decline in FEV1 is the most commonly used parameter to monitor disease progression. Although resting pulmonary hypertension appears to be unusual in LAM, pulmonary arterial pressure often rises with low levels of exercise, related in part to hypoxemia.[103] One study reported an increase in intraparenchymal shunts in dyspneic patients with LAM, which may contribute to resting and exercise hypoxemia.[104]
### Pathology[edit]
Grossly, LAM lungs are enlarged and diffusely cystic, with dilated air spaces as large as several centimeters in diameter.[105][106] Microscopic examination of the lung reveals foci of smooth muscle-like cell infiltration of the lung parenchyma, airways, lymphatics, and blood vessels associated with areas of thin-walled cystic change. LAM lesions often contain an abundance of lymphatic channels, forming an anastomosing meshwork of slit-like spaces lined by endothelial cells. LAM cells generally expand interstitial spaces without violating tissue planes but have been observed to invade the airways, the pulmonary artery, the diaphragm, aorta, and retroperitoneal fat, to destroy bronchial cartilage and arteriolar walls, and to occlude the lumen of pulmonary arterioles.[105]
There are two major cell morphologies in the LAM lesion: small spindle-shaped cells and cuboidal epithelioid cells.[107] LAM cells stain positively for smooth muscle actin, vimentin, desmin, and, often, estrogen and progesterone receptors. The cuboidal cells within LAM lesions also react with a monoclonal antibody called HMB-45, developed against the premelanosomal protein gp100, an enzyme in the melanogenesis pathway.[107] This immunohistochemical marker is very useful diagnostically, because other smooth muscle–predominant lesions in the lung do not react with the antibody.[108] The spindle-shaped cells of the LAM lesion are more frequently proliferating cell nuclear antigen positive than the cuboidal cells, consistent with a proliferative phenotype.[107] Compared with cigar-shaped normal smooth muscle cells, spindle-shaped LAM cells contain less abundant cytoplasm and are less eosinophilic. Estrogen and progesterone receptors are also present in LAM lesions,[109][110][111] but not in adjacent normal lung tissue.[112] LAM lesions express lymphatic markers LYVE-1, PROX1, podoplanin and VEGFR-3. The smooth muscle–like cells of AMLs are morphologically and immunohistochemically similar to LAM cells, including reactivity with antibodies directed against actin, desmin, vimentin, and HMB-45 as well as estrogen and progesterone receptors.[113][114] Unlike the dilated airspaces in emphysema, the cystic spaces found in LAM may be partially lined with hyperplastic type II cells.[115]
## Treatment[edit]
An FDA-approved drug for treatment of LAM, the mTOR inhibitor sirolimus, is available for stabilization of lung function decline.[35] Lung transplant remains the last resort for patients with advanced disease.[116]
### Pneumothorax[edit]
Pneumothoraces in LAM patients tend to recur, especially after conservative management such as observation, aspiration or simple tube thoracostomy. Over 65% of LAM patients develop pneumothorax during the course of their illness, averaging 3.5 pneumothoraces in those who have at least one pneumothorax.[8] The LAM Foundation Pleural Consensus Group advocated the use of a pleural symphysis procedure with the first pneumothorax, given the greater than 70% chance of recurrence.[8] Chemical sclerosis, mechanical abrasion, talc poudrage and pleurectomy have been effective in patients with LAM, but mechanical abrasion is preferred for those who may require pulmonary transplantation in the future. About half of LAM patients who have undergone transplant have had a prior pleurodesis procedure, and more than 75% of those had had prior bilateral pleurodesis.[8] Although pleurodesis is not a contraindication to transplantation, it can result in increased perioperative bleeding.[citation needed]
### Chylothorax[edit]
Chyle does not generally cause pleural inflammation or fibrosis. Small stable chylous effusions rarely require intervention once the LAM diagnosis is made. Shortness of breath may mandate possibly repeated drainage. Sirolimus is effective for chylous effusions and most experts believe it should be used as the first line of therapy.[65] Imaging the source of the leak with heavy T2-weighted MRI or contrast lymphangiography is an advised for refractory effusions.[117] Some leaks are amenable to embolization through catheters threaded from groin lymph nodes into the thoracic duct. Thoracic duct ligation can be considered, but since thoracic effusions sometimes originate from ascites that are siphoned into the chest by the bellows action of the thorax, it is important to rule out an abdominal source before considering this option. Pleural symphysis may be required to prevent nutritional and lymphocyte deficiencies that can result from repeated taps or persistent drainage. Chemical pleurodesis is generally an effective therapy for chylothorax, as is mechanical abrasion and talc poudrage.[118]
### Angiomyolipoma[edit]
Renal angiomyolipomas (AMLs) may require embolization or cauterization for control of bleeding, a complication that is thought to be more common when tumor diameter exceeds 4 cm.[119] The extent of aneurysmal change may determine bleeding risk. Serial abdominal imaging should be performed to assess AML size at 6- to 12-month intervals, at least until trends in growth are clear. Nephron sparing partial resections may be considered for very large tumors.[120] Nephrectomy is sometimes required for tumors with intravascular extension or other reasons, but is rarely the approach of choice for AMLs that can be managed by less invasive means. Everolimus is approved by the U.S. Food and Drug Administration (FDA) for AML treatment.[121]
### Lymphangioleiomyoma[edit]
Lymphangioleiomyomatoses are fluid-filled hypodense structures present in the retroperitoneal regions of the abdomen and pelvis in about 30% of LAM patients. They generally do not require intervention. Biopsy or resection can lead to prolonged leakage. mTOR inhibitors are effective at shrinking the size of lymphangioleiomyomatosis, and can lead to total resolution.
### Management-other[edit]
Estrogen-containing medications can exacerbate LAM[122] and are contraindicated. Agents that antagonize the effects of estrogen have not been proven to be effective for treatment, but no proper trials have been done. A trial of bronchodilators should be considered in LAM patients, because up to 17% to 25% have bronchodilator-responsive airflow obstruction.[5][10] Oxygen should be administered to maintain oxyhemoglobin saturations of greater than 90% with rest, exercise and sleep. Bone densitometry should be considered in all patients who are immobilized and/or on antiestrogen therapies, and appropriate therapy instituted for osteoporotic patients. Proper attention should be paid to cardiovascular health following natural or induced menopause. Immunizations for pneumococcus and influenza should be kept up to date. Pulmonary rehabilitation seems to be particularly rewarding in young, motivated patients with obstructive lung disease, but studies to assess this intervention's effect on exercise tolerance, conditioning and quality of life have not been done.[citation needed]
### Medication[edit]
Sirolimus is an mTOR inhibitor that stabilizes lung function and improves some measures of life in LAM patients.[35] It is approved by the FDA for use in LAM, based on the results of the Multicenter International LAM Efficacy and Safety of Sirolimus (MILES) Trial. MILES data supports the use of sirolimus in patients who have abnormal lung function (i.e. FEV1<70% predicted). Whether the benefits of treatment outweigh the risks for asymptomatic LAM patients with normal lung function is not clear, but some physicians consider treatment for declining patients who are approaching the abnormal range for FEV1. Sirolimus also appears to be effective for the treatment chylous effusions and lymphangioleiomyomatosis. The benefits of sirolimus only persist while treatment continues. The safety of long term therapy has not been studied.[citation needed]
Potential side effects from mTOR inhibitors include swelling in the ankles, acne, oral ulcers, dyspepsia, diarrhea, elevation of cholesterol and triglycerides, hypertension and headache. Sirolimus pneumonitis and latent malignancy are more serious concerns, but occur infrequently. Sirolimus inhibits wound healing. It is important to stop therapy with the drug for 1–2 weeks before and after elective procedures that require optimal wound healing. Precautions must be taken to avoid prolonged sun exposure due to increased skin cancer risk.[citation needed]
Treatment with another mTOR inhibitor, everolimus, was reported in a small, open-label trial to be associated with improvement in FEV1 and six-minute walk distance.[123] Serum levels of VEGF-D and collagen IV were reduced by treatment. Adverse events were generally consistent with those known to be associated with mTOR inhibitors, although some were serious and included peripheral edema, pneumonia, cardiac failure and Pneumocystis jirovecii infection. Escalating doses of everolimus were used, up to 10 mg per day; higher than what is typically used clinically for LAM.
Serum VEGF-D concentration is useful, predictive and prognostic biomarker.[71] Higher baseline VEGF-D levels predicts more rapid disease progression and a more robust treatment response.
Hormonal approaches to treatment have never been tested in proper trials. In the absence of proven benefit, therapy with progesterone, GnRh agonists (e.g., leuprorelin, goserelin) and tamoxifen are not routinely recommended. Doxycycline had no effect on the rate of lung function decline in a double blind trial.[124]
Sirolimus is often effective as first-line management for chylothorax.[65] If chylous leakage or accumulations persist despite treatment, imaging with heavy T2 weighted MRI, MRI lymphangiography or thoracic duct lymphangiography can be considered. Pleural fusion procedures can be considered in refractory cases.[citation needed]
## Prognosis[edit]
Survival estimates vary, dependent on mode of presentation or ascertainment, and have generally trended upward, probably due to earlier recognition through more widespread use of CT scanning. In a recent population-based cohort survey, median survival was found to be 29 years.[125] Data from earlier, large case series indicated that 38% to 78% of patients were alive at 8.5 years from the time of disease onset.[3][4][6][126]
Patients typically develop progressive airflow obstruction. In a cohort of patients in the United Kingdom, 10 years after symptom onset, 55% of 77 patients were breathless walking on flat ground and 10% were housebound.[127] The average annual rate of decline in FEV1 and DLCO in 275 patients studied in a single pulmonary function laboratory at the NHLBI was 75 ± 9 mL, and 0.69 ± 0.07 mL/min/mm Hg, respectively.[128] In other series from Europe, the rate of decline in FEV1 was considerably higher, estimated at approximately 100 to 120 mL/yr.[6][129][130] In the MILES trial, patients in the placebo group lost 134 cc/yr.[35] There was some evidence in these studies that rate of decline in lung function correlates with initial DLCO, with menopausal status and high baseline VEGF-D.
Estimates of median survival vary from 10 to 30 years, depending on whether hospital-based or population-based cohorts are studied.[98][125][131]
## Epidemiology[edit]
LAM is almost completely restricted to women.[132][133] While lung cysts consistent with LAM are reported in some men with tuberous sclerosis, very few of these men develop symptoms. The prevalence of LAM is estimated using data from registries and patient groups and is between 3.4 and 7.8/million women. The number of new cases each year is between 0.23 and 0.31/million women/year in the US, UK and Switzerland. The variation between countries and between adjacent states in the US, suggest that a significant number of women with LAM remain either undiagnosed or their symptoms are attributed to other diseases.[134] Adult women with tuberous sclerosis are more likely to develop LAM than women without tuberous sclerosis. Cohorts of patients with tuberous sclerosis have been screened for LAM using CT scanning. In a retrospective study of adults with tuberous sclerosis, CT demonstrated lung cysts in 42% of 95 women and 13% of 91 men. In general, lung cysts were larger and more numerous in women than in men.[135] In a further retrospective study of women with TSC who underwent CT scanning to detect LAM, 25% of those in their 20s had lung cysts whereas 80% of women in their 40s were affected, suggesting that the development of LAM is age dependent at least in tuberous sclerosis-related LAM.[79] Although the prevalence of tuberous sclerosis at 1 in 6000 births is much greater than that of LAM, most pulmonary clinics see more cases of sporadic than tuberous sclerosis-LAM: probably due to a combination of low levels of screening for LAM in tuberous sclerosis and in many, the absence of symptoms.[citation needed]
Female sex and tuberous sclerosis are the only known risk factors. Although use of supplemental estrogen is not associated with development of LAM,[136] one study suggested that use of estrogen-containing contraceptive pills was associated with earlier onset.[137]
It occurs in more than 30% of women with tuberous sclerosis complex (TSC-LAM), a heritable syndrome that is associated with seizures, cognitive impairment and benign tumors in multiple tissues.[9][138][139][79] Most LAM patients who present for medical evaluation have the sporadic form of the disease (S-LAM), however, which is not associated with other manifestations of tuberous sclerosis complex.
Mild cystic changes consistent with LAM have been described in 10–15% of men with TSC,[140][135] but symptomatic LAM in males is rare.[132][133] Sporadic LAM occurs exclusively in women, with one published exception to date.[133] Both TSC-LAM and S-LAM are associated with mutations in tuberous sclerosis genes.[21]
## Pregnancy[edit]
Pregnancy has been reported to exacerbate LAM in some cases.[96][141][142][143][144] However, the risk has not been rigorously studied. In a survey of 318 patients who indicated that they had had at least one pregnancy, 163 responded to a second survey focusing on lung collapse.[145] A total of 38 patients reported a pneumothorax with pregnancy, consistent with an incidence of pneumothorax in pregnancy of at least 10% (38 of 318). In one third of patients, the pneumothorax during pregnancy led to the LAM diagnosis. Pneumothoraces were almost twice as frequent on the right as on the left, and four women presented with bilateral spontaneous pneumothorax. Most pneumothoraces took place during the second and third trimesters. This study and others[7][6] suggest that pregnancy is associated with pleural complications in LAM patients. Few women with a known LAM diagnosis choose to become pregnant and patients in whom LAM is diagnosed during pregnancy rarely have baseline pulmonary function tests available, complicating resolution of this question.[citation needed]
## Society[edit]
The LAM Foundation was founded in 1995 as a grassroots organization to provide patient advocacy and research funding.[146] Today, the LAM Foundation provides support and education for women with LAM and their families, engages doctors and scientists to continue to learn more about the disease, and raises funds for the continued study of LAM. It seeks safe and effective treatments, and ultimately a cure, for lymphangioleiomyomatosis. It is headquartered in Cincinnati, Ohio.
## In popular culture[edit]
In "Lucky Thirteen", the fifth episode of the fifth season of House, Spencer (Angela Gots) was diagnosed with LAM, though later it was found to be a case of Sjögren's syndrome.
## See also[edit]
* PEComa
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136. ^ Wahedna, I; Cooper, S; Williams, J; Paterson, IC; Britton, JR; Tattersfield, AE (1994). "Relation of pulmonary lymphangioleiomyomatosis to use of the oral contraceptive pill and fertility in the UK: a national case control study". Thorax. 49 (9): 910–914. doi:10.1136/thx.49.9.910. PMC 475191. PMID 7940433.
137. ^ Oberstein, EM; Fleming, LE; Gómez-Marin, O; Glassberg, MK (2003). "Pulmonary lymphangioleiomyomatosis (LAM): examining oral contraceptive pills and the onset of disease". J Womens Health (Larchmt). 12 (1): 81–85. doi:10.1089/154099903321154176. PMID 12639372.
138. ^ Costello, LC; Hartman, TE; Ryu, JH (2000). "High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex". Mayo Clin Proc. 75 (6): 591–594. doi:10.4065/75.6.591. PMID 10852420.
139. ^ Moss, J; Avila, NA; Barnes, PM; Litzenberger, RA; Bechtle, J; Brooks, PG; Hedin, CJ; Hunsberger, S; Kristof, AS (2001). "Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex". Am J Respir Crit Care Med. 164 (4): 669–671. doi:10.1164/ajrccm.164.4.2101154. PMID 11520735.
140. ^ Muzykewicz, DA; Sharma, A; Muse, V; Numis, AL; Rajagopal, J; Thiele, EA (2009). "TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex". J Med Genet. 46 (7): 465–468. doi:10.1136/jmg.2008.065342. PMID 19419980. S2CID 22501227.
141. ^ Hughes E, Hodder RV (July 1987). "Pulmonary lymphangiomyomatosis complicating pregnancy. A case report". J Reprod Med. 32 (7): 553–7. PMID 3625622.
142. ^ Yockey, CC; Riepe, RE; Ryan, K (1986). "Pulmonary lymphangioleiomyomatosis complicated by pregnancy". Kans Med. 87 (10): 277–278, 293. PMID 3807098.
143. ^ Sleiman, C; Mal, H; Jebrak, G; Darne, C; Meeus, E; Dubois, F; Luisetti, M; Fournier, M; Pariente, R; Andreassian, B (1992). "Pulmonary lymphangiomyomatosis treated by single lung transplantation". Am Rev Respir Dis. 145 (4 Pt 1): 964–966. doi:10.1164/ajrccm/145.4_Pt_1.964. PMID 1554228.
144. ^ Kerr, LA; Blute, ML; Ryu, JH; Swensen, SJ; Malek, RS (1993). "Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis?". Urology. 41 (5): 440–444. doi:10.1016/0090-4295(93)90504-4. PMID 8488612.
145. ^ Tazelaar, HD; Kerr, D; Yousem, SA; Saldana, MJ; Langston, C; Colby, TV (1993). "Diffuse pulmonary lymphangiomatosis". Hum Pathol. 24 (12): 1313–1322. doi:10.1016/0046-8177(93)90265-i. PMID 8276379.
146. ^ "About Us | About the LAM Foundation".
## External links[edit]
* American Thoracic Society (US): Patient Information Series – Lymphangioleiomyomatosis
Classification
D
* ICD-10-CM: J84.81
* ICD-9-CM: 516.4
* ICD-O: 9174/1
* OMIM: 606690
* MeSH: D018192
* DiseasesDB: 30755
External resources
* eMedicine: med/1348 radio/415
* v
* t
* e
Tumours of blood vessels
Blood vessel
* Hemangiosarcoma
* Blue rubber bleb nevus syndrome
* Hemangioendothelioma
* Composite
* Endovascular papillary
* Epithelioid
* Kaposiform
* Infantile
* Retiform)
* Spindle cell
* Proliferating angioendotheliomatosis
* Hemangiopericytoma
* Venous lake
* Kaposi's sarcoma
* African cutaneous
* African lymphadenopathic
* AIDS-associated
* Classic
* Immunosuppression-associated
* Hemangioblastoma
* Hemangioma
* Capillary
* Cavernous
* Glomeruloid
* Microvenular
* Targeted hemosiderotic
* Angioma
* Cherry
* Seriginosum
* Spider
* Tufted
* Universal angiomatosis
* Angiokeratoma
* of Mibelli
* Angiolipoma
* Pyogenic granuloma
Lymphatic
* Lymphangioma/lymphangiosarcoma
* Lymphangioma circumscriptum
* Acquired progressive lymphangioma
* PEComa
* Lymphangioleiomyomatosis
* Cystic hygroma
* Multifocal lymphangioendotheliomatosis
* Lymphangiomatosis
Either
* Angioma/angiosarcoma
* Angiofibroma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Lymphangioleiomyomatosis
|
c0751674
| 7,916 |
wikipedia
|
https://en.wikipedia.org/wiki/Lymphangioleiomyomatosis
| 2021-01-18T18:58:48 |
{"gard": ["3319"], "mesh": ["D018192"], "umls": ["C0751674"], "icd-9": ["516.4"], "orphanet": ["538"], "wikidata": ["Q1878759"]}
|
"Didelphys" redirects here. For the genus commonly known as large American opossums, see didelphis.
Uterus didelphys
Other namesBicervical bicornuate uterus
Ultrasound showing didelphys
SpecialtyGynaecology
Uterus didelphys (sometimes also uterus didelphis) represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur. As a result, there is a double uterus with two separate cervices, and possibly a double vagina as well. Each uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary.
Most non-human mammals do not have a single uterus with no separation of horns. Marsupials and rodents have a double uterus (uterus duplex). In other animals (e.g. nematodes), the term 'didelphic' refers to a double genital tract, as opposed to monodelphic, with a single tract.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Syndrome
* 3 Diagnosis
* 4 Management
* 5 Epidemiology
* 6 Multiple pregnancy
* 6.1 Triplets
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Persons with the condition may be asymptomatic and unaware of having a double uterus. However, a study by Heinonen showed that certain conditions are more common. In his study of 26 women with a double uterus gynecological complaints included dysmenorrhea and dyspareunia. All patients displayed a double vagina. The fetal survival rate in 18 patients who delivered was 67.5%. Premature delivery occurred in 21% of the pregnancies. Breech presentation occurred in 43% of women and cesarean section was performed in 82% of the cases.[1]
## Cause[edit]
The uterus is formed during embryogenesis by the fusion of the two paramesonephric ducts (also called Müllerian ducts). This process usually fuses the two Müllerian ducts into a single uterine body but fails to take place in these affected women who maintain their double Müllerian systems. A didelphic uterus will have a double cervix and is usually associated with a double vagina. The cause of the fusion failure is not known. Associated defects may affect the vagina, the renal system and, less commonly, the skeleton.[citation needed]
The condition is less common than these other uterine malformations: arcuate uterus, septate uterus, and bicornuate uterus. It has been estimated to occur in 1/3,000 women.[2]
### Syndrome[edit]
A specific association of uterus didelphys (double uterus), unilateral hematocolpos (inadequate draining of menstrual blood) and ipsilateral renal agenesis (having only one kidney) has been described.[3]
## Diagnosis[edit]
A pelvic examination will typically reveal a double vagina and a double cervix. Investigations are usually prompted on the basis of such findings as well as when reproductive problems are encountered. Not all cases of uterus didelphys involve duplication of the cervix and vagina.[citation needed]
Helpful techniques to investigate the uterine structure are transvaginal ultrasonography and sonohysterography, hysterosalpingography, MRI, and hysteroscopy. More recently 3-D ultrasonography has been advocated as an excellent non-invasive method to evaluate uterine malformations.[4]
Uterus didelphys is often confused with a complete uterine septum. Often more than one method of investigation is necessary to accurately diagnose the condition. Correct diagnosis is crucial as treatment for these two conditions is very different.[5] Whereas most doctors recommend removal of a uterine septum, they generally concur that it is better not to operate on a uterus didelphys. In either case, a highly qualified reproductive endocrinologist should be consulted.
## Management[edit]
Patients with a double uterus may need special attention during pregnancy as premature birth and malpresentation are common. Cesarean section was performed in 82% of patients reported by Heinonen.[1]
Uterus didelphys, in certain studies, has also been found associated with higher rate of infertility, miscarriage, intrauterine growth retardation, and postpartum bleed.[5]
## Epidemiology[edit]
In the United States, uterus didelphys is reported to occur in 0.1–0.5% of women. It is difficult to know the exact occurrence of this anomaly, as it may go undetected in the absence of medical and reproductive complications.[citation needed]
## Multiple pregnancy[edit]
A number of twin gestations have occurred where each uterus carried its pregnancy separately. A recent example occurred on February 26, 2009, when Sarah Reinfelder of Sault Ste. Marie, Michigan delivered two healthy, although seven weeks premature, infants by cesarean section at Marquette General Hospital.[6] It is possible that the deliveries occur at different times, thus the delivery interval could be days or even weeks.
In 2019, Arifa Sultana gave birth in February and then to twins a month later.[7]
### Triplets[edit]
A UK woman with a double uterus gave birth to triplets in 2006. Hannah Kersey, of Northam, Devon, gave birth to a pair of identical twins from an egg that implanted into one womb and then divided, and to an infant from a single egg that implanted into the other womb. This was the first known birth of viable triplets in a woman with a double uterus.[8] A triplet pregnancy in a woman with uterus didelphys was reported from Israel in 1981; one baby died in utero, and of the remaining babies, one was delivered at 27 weeks gestation and the other 72 days later.[9]
## See also[edit]
* Bifid penis
* Diphallia
* Uterine malformation
## References[edit]
1. ^ a b Heinonen, P.K. (1984). "Uterus didelphys: a report of 26 cases". European Journal of Obstetrics & Gynecology and Reproductive Biology. 17 (5): 345–50. doi:10.1016/0028-2243(84)90113-8. PMID 6479426.
2. ^ Grimbizis, G. F.; Camus, M; Tarlatzis, BC; Bontis, JN; Devroey, P (2001). "Clinical implications of uterine malformations and hysteroscopic treatment results". Human Reproduction Update. 7 (2): 161–74. doi:10.1093/humupd/7.2.161. PMID 11284660.
3. ^ Madureira, A. J.; Mariz, C. M.; Bernardes, J. C.; Ramos, I. M. (2006). "Case 94: Uterus Didelphys with Obstructing Hemivaginal Septum and Ipsilateral Renal Agenesis". Radiology. 239 (2): 602–6. doi:10.1148/radiol.2392031187. PMID 16641359.
4. ^ Woelfer, B; Salim, R; Banerjee, S; Elson, J; Regan, L; Jurkovic, D (2001). "Reproductive outcomes in women with congenital uterine anomalies detected by three-dimensional ultrasound screening". Obstetrics & Gynecology. 98 (6): 1099–103. doi:10.1016/S0029-7844(01)01599-X. PMID 11755560. S2CID 37650526.
5. ^ a b Pui, M (2004). "Imaging diagnosis of congenital uterine malformation". Computerized Medical Imaging and Graphics. 28 (7): 425–33. doi:10.1016/j.compmedimag.2004.05.008. PMID 15464882.
6. ^ "Mich. woman with 2 wombs delivers twin daughters". Associated Press. February 28, 2009. Retrieved 2018-12-28.
7. ^ "Woman with two wombs gives birth twice, less than a month apart". CBS. March 29, 2019. Retrieved 2018-04-16.
8. ^ "Triplets for woman with two wombs". BBC News. December 21, 2006. Retrieved 2007-06-27.
9. ^ Mashiach, S; Ben-Rafael, Z; Dor, J; Serr, DM (1981). "Triplet pregnancy in uterus didelphys with delivery interval of 72 days". Obstetrics and Gynecology. 58 (4): 519–21. PMID 7279347.
## External links[edit]
* Images Archived 3 March 2016 at the Wayback Machine
Classification
D
* ICD-10: Q51.1
* ICD-9-CM: 752.2
External resources
* Orphanet: 180086
* v
* t
* e
Female congenital anomalies of the genitalia, including Intersex and DSD
Internal
Uterine malformation
* Müllerian agenesis
* Cervical agenesis
* Unicornuate uterus
* Uterus didelphys
* Bicornuate uterus
* Uterine septum
* Arcuate uterus
Vagina
* Vaginal septum
* Vaginal hypoplasia
* Imperforate hymen
* Vaginal adenosis
* Cloacal exstrophy
* Vaginal atresia
External
* Clitoromegaly
* Progestin-induced virilization
* Pseudohermaphroditism
* True hermaphroditism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Uterus didelphys
|
c0266393
| 7,917 |
wikipedia
|
https://en.wikipedia.org/wiki/Uterus_didelphys
| 2021-01-18T18:57:04 |
{"umls": ["C0266393"], "icd-9": ["752.2"], "icd-10": ["Q51.1"], "orphanet": ["180086"], "wikidata": ["Q3936703"]}
|
Jancar (1967) reported the case of a 19-year-old man with ectrodactyly, mental retardation, and spastic paraplegia. Zlotogora (1987) described the combination in a 3-year-old child. Zlotogora and Glick (1993) reported a third case in an offspring of healthy Moslem Arabs who were first cousins. They raised the possibility of autosomal recessive inheritance because the parents of 2 of the patients were first cousins and the sister of patient 2 may also have been affected. However, the second and third families originated from communities in which consanguineous marriages are the rule and not the exception.
Limbs \- Ectrodactyly Neuro \- Mental retardation \- Spastic paraplegia 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
|
LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY
|
c0796001
| 7,918 |
omim
|
https://www.omim.org/entry/246555
| 2019-09-22T16:25:47 |
{"mesh": ["C537446"], "omim": ["246555"], "orphanet": ["1891"]}
|
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.
## Frequency
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.
## Causes
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.
The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.
### Learn more about the gene and chromosome associated with Cri-du-chat syndrome
* CTNND2
* chromosome 5
## Inheritance Pattern
Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Cri-du-chat syndrome
|
c0010314
| 7,919 |
medlineplus
|
https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/
| 2021-01-27T08:25:13 |
{"gard": ["6213"], "mesh": ["D003410"], "omim": ["123450"], "synonyms": []}
|
Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Rosette-forming glioneuronal tumor
|
c4331262
| 7,920 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251975
| 2021-01-23T17:12:03 |
{"synonyms": ["RGNT"]}
|
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
## Epidemiology
Mucopolysaccharidosis type 2 (MPS2) prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported.
## Clinical description
MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age. Macrocephaly develops during infancy and infants initially grow at normal or above average rates. Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly; and skin lesions resembling an orange peel (on the shoulder, back and thighs). A distinctive facies with thickening of lips and nostrils as well as an enlarged and protruding tongue forms slowly and may become evident between 2-4 years of age, later in attenuated cases. Progression varies from a severe form (MPS2, severe form) with early psychomotor regression to an attenuated form (MPS2, attenuated form) which manifests without cognitive involvement.
## Etiology
MPS2 results from iduronate-2-sulfatase (I2S) deficiency, which leads lysosomal accumulation of two specific mucopolysaccharides, dermatan sulfate (DS) and heparan sulfate (HS). The causative gene, IDS, is located on Xq28, approximately 320 mutations have been reported to cause MPS2.
## Diagnostic methods
Diagnosis is based on clinical signs followed by the detection of increased levels of DS and HS in the urine and confirmed by the demonstration of the enzyme deficiency in the serum, leukocytes or fibroblasts, or in dried blood spot samples. Enzymatic activity of another sulfatase should also be assessed. Genetic testing requires searching for exonic or whole-gene deletions, for point mutations in IDS and its promoter region, and for recombination with the nearby pseudogene IDS2.
## Differential diagnosis
Differential diagnoses include mucopolysaccharidosis type 1, 6, 7; sialidosis type 2; mucolipidosis type 2 and 3; and multiple sulfatase deficiency.
## Antenatal diagnosis
Prenatal diagnosis by measuring IDS activity or by mutation analysis in chorionic villi or amniocytes is only performed for male fetuses.
## Genetic counseling
Women at risk of being a carrier should undergo genetic testing as MPS2 is X-linked recessive. Female carriers transmit the disorder to 50% of their sons; only 12 cases of affected girls have been described due to skewed X-inactivation.
## Management and treatment
All patients should be considered for weekly intravenous enzyme replacement therapy (ERT) which has been shown to alleviate somatic symptoms. Cranial shunting should be performed to relieve cases of hydrocephalus. Hernia repair, tonsillectomy and adenoidectomy (to liberate the upper respiratory tract) and in some cases positive pressure ventilation or tracheostomy may be required. Cardiac valve or hip replacement and carpal tunnel release may be necessary over time. Extensive palliative care is required, patients must be regularly evaluated by echocardiogram, respiratory function, full radiologic examination to identify dysostosis multiplex, cranial and cervical MRI with or without lumbar puncture to assess cerebrospinal fluid pressure, hearing tests, eye exams and nerve conduction velocity tests.
## Prognosis
Prognosis is highly variable. In the severe form (60-80% of cases) life expectancy is markedly reduced, death generally occurring before the age of 25 often as a result of cardio-respiratory complications. In the attenuated form, patients may survive into adulthood, sometimes even beyond the age of 60, and intellectual deficits are most often absent in these cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Mucopolysaccharidosis type 2
|
c0026705
| 7,921 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=580
| 2021-01-23T18:10:01 |
{"gard": ["6675"], "mesh": ["D016532"], "omim": ["309900"], "umls": ["C0026705", "C2718304"], "icd-10": ["E76.1"], "synonyms": ["Hunter syndrome", "Iduronate 2-sulfatase deficiency", "MPS2", "MPSII", "Mucopolysaccharidosis type II"]}
|
B-cell prolymphocytic leukemia
Prolymphocyte
SpecialtyHematology, oncology
B-cell prolymphocytic leukemia, referred to as B-PLL, is a rare blood cancer. It is a more aggressive, but still treatable, form of leukemia.
## Contents
* 1 B-cell Prolymphocytic Leukemia
* 1.1 Classification
* 2 Epidemiology
* 3 Signs and Clinical Features
* 4 Diagnosis
* 4.1 Morphology
* 4.2 Immunophenotype
* 4.3 Cytogenetics
* 4.3.1 Chromosomal Mutations
* 4.3.2 TP53 Gene
* 4.3.3 c-MYC Gene
* 4.4 Biopsy
* 5 Treatment
* 5.1 Watchful Waiting
* 5.2 Chemotherapy
* 5.3 Targeted Therapy
* 5.3.1 Monoclonal Antibodies
* 5.4 Splenectomy or Radiation Therapy to Spleen
* 5.5 Stem Cell Transplantation
* 6 Prognosis
* 7 References
* 8 External links
## B-cell Prolymphocytic Leukemia[edit]
Specifically, B-PLL is a prolymphocytic leukemia (PLL) that affects prolymphocytes – immature forms of B-lymphocytes and T-lymphocytes – in the peripheral blood, bone marrow, and spleen. It is an aggressive cancer that presents poor response to treatment.[1]
Mature lymphocytes are infection-fighting immune system cells. B-lymphocytes have two responsibilities:[2]
1. Production of antibodies – In response to antigens, B-lymphocytes produce and release antibodies specific to foreign substances in order to aid in their identification and elimination phagocytes
2. Generation of memory cells – Interactions between antibodies and antigens allow B-lymphocytes to establish cellular memories, otherwise known as immunities that allow the body to respond more rapidly and efficiently to previously encountered species
### Classification[edit]
It is categorized as a lymphoproliferative disorder due to the excessive production of lymphocytes, in B-PLL there is excess production of B-prolymphocytes by the bone marrow. These immature lymphocytes are not normally found in the blood; part of their maturation process is being programmed to produce antibodies against foreign material prior to their departure from the bone marrow.[3] In B-PLL, malignant B-prolymphocytes disrupt the adaptive capabilities of the immune system due to the lack of mature B-lymphocytes.
It has been suggested that some cases may represent a variant of mantle cell lymphoma.[4]
## Epidemiology[edit]
B-PLL represents less than 1% of all leukemia cases worldwide,[5] mainly affecting the elderly population with a mean age of presentation between 65 and 70[6] years. Most cases have shown slight male predominance, with a male-to-female ratio of 1.6 to 1,[5] and the vast majority of patients being Caucasians.[7]
## Signs and Clinical Features[edit]
This type of leukemia is characterized by:[7][8]
* More than 55% of circulating cells in peripheral blood (red blood cells, white blood cells and platelets collectively) are prolymphocytes. Generally, prolymphocyte proportion exceeds 90%
* Minimal or absence of lymphadenopathy – abnormalities in size, number or consistency of lymph nodes
* Splenomegaly \- Abnormal enlargement of the spleen
* High white blood cell count
* B-symptoms – Fever, night sweats and/or weight loss
Similar to other leukemias, B-cell prolymphocytic leukemia is often asymptomatic. The most common signs and symptoms are the result of the inability of the bone marrow to produce normal levels of blood cells:[9]
* Anaemia – due to lack of red blood cells
* More frequent, severe and prolonged infections – due to lack of normal white blood cells
* Bleeding and bruising – due to lack of platelets
## Diagnosis[edit]
Diagnosis of B-PLL is difficult due to its considerable overlap with other mature B-cell leukemias and lymphomas.[10] It requires integration of morphology with diagnostic tests including immunophenotyping and chromosome analysis (cytogenetics).
### Morphology[edit]
The malignant B cells are larger than average.
In order to diagnose a patient with B-PLL, b-prolymphocyte composition of a patient's blood cells must exceed 55%. High white blood cell counts – greater than 100 x 109/L [10] – are also indicative of B-PLL. B-prolymphocytes are characterized by:[10][11][12]
* Large size – approximately twice the size of a normal small lymphocyte
* Round or oval-shaped nuclei
* Single prominent nucleolus
* Moderately condensed nuclear chromatin
* High nuclear-cytoplasmic ratio – indicates more abundant cytoplasm
### Immunophenotype[edit]
This technique is used to study proteins expressed in cells using immunologic markers. In B-PLL patients there is strong expression of surface immunoglobulin – a membrane-bound form of an antibody, b-lymphocyte surface antigens CD19, CD20, CD22, CD79a and FMC7, and weak expression of CD5 and CD23.[13] Due to the similarities among lymphoproliferative disorders, it is often difficult to diagnose patients. Immunophenotyping helps distinguish B-PLL from similar diseases, one of its key identifiers is the absence in expression of the surface antigens CD10, CD11c, CD25, CD103 and cyclin D1 – an important regulator of cell-cycle progression.[7]
A case has been described as CD20+, CD22+, and CD5-.[14]
It can also be CD5+.[15]
Another case was described as CD45+, CD19+, CD20+, CD5+, HLA-DR+, CD10-, CD23+/-, CD38\+ and FMC7-.[16]
### Cytogenetics[edit]
B-PLL is rare, consequently few genetic studies have focused on this disease. As a result, the associated genetic lesions underlying B-PLL are largely unknown.
#### Chromosomal Mutations[edit]
The most commonly reported abnormalities have occurred at chromosome 14, specifically in a region of the chromosome called band q23 (14q23). Translocations to this location lead to overexpression of the cyclin D1 gene[13] which has been linked to both the development and progression of a number of cancers.[17] Other chromosomal abnormalities have been reported on 6q21, 11q23, 12p12, 13q14 and 17p.[13]
It can involve deletions from chromosome 11 and chromosome 13.[18]
#### TP53 Gene[edit]
Among the documented studies, mutations to the TP53 gene have occurred in 75% of all cases of B-PLL. This is the highest incidence among all sub-types of B-cell malignancies. Mutations to this gene have also been documented in other hematologic malignancies.[19]
TP53 is an important transcriptional activator of genes involved in the regulation of the G1 checkpoint of the cell cycle as well as certain genes responsible for programmed-cell death (apoptosis). It is believed that mutations to TP53 are responsible for the frequent therapy resistance and aggressive course of this disease.[19]
#### c-MYC Gene[edit]
In a small number of B-PLL cases, abnormalities in the c-MYC gene have been observed. It is considered a global amplifier and influences nearly all aspects of cellular activity. Among the number of genes it regulates, most are involved in cell growth, cell cycle progression, protein biosynthesis and apoptosis. Amplification of c-MYC has been reported in B-PLL patients and while the consequences are unclear, it is generally associated with poor clinical outcome.[20]
### Biopsy[edit]
After physicians have identified an abnormality in the composition of the peripheral blood, biopsies (tissue samples) from a patient's bone marrow and/or spleen are often recommended for confirmation. A bone marrow biopsy involves the removal of a small amount of tissue that is further analyzed for abnormalities,[21] for B-PLL pathologists look for prolymphocytic infiltration where the hematopoietic stem cells of the bone marrow are replaced with prolymphocytes due to excess production. In 50% of reported cases, it was common for patients to be both anemic (lack healthy red blood cells in blood) and thrombocytopenic (deficiency of platelets in blood).[22]
## Treatment[edit]
The rarity of B-PLL paired with its considerably fast progression compared to other leukemias has resulted in difficult production of effective treatments. This disease is currently incurable, treatments and therapy are guided to reduce prolymphocyte abundance in the blood and production by the bone marrow, treating symptoms and controlling progression.[22]
### Watchful Waiting[edit]
Some patients do not require immediate treatment after diagnosis; these patients include those that do not show overt symptoms or whose cancer has not been observed to be progressing. Regular check-ups with physicians are required to actively monitor the patient's condition; once there is evidence of disease progression or patient distress from symptoms, treatment will be implemented.[9][23]
### Chemotherapy[edit]
B-PLL has a very aggressive clinical course and refractoriness to chemotherapy;[10] it is believed this resistance is the result of mutations to the TP53 gene. Its resistant nature has led to the use of combinations of chemotherapy drugs. Drug regimens recommended and employed by physicians are unique to each patient and are based on previous chemotherapy experience along with potential side effects. In addition to the utilization of combinations of chemotherapeutic drugs, it is most often paired with immunotherapy treatments.[10]
### Targeted Therapy[edit]
#### Monoclonal Antibodies[edit]
A type of targeted therapy that recognizes specific proteins in leukemia cells preventing collateral damage to normal, healthy cells.[21] The following are compounds currently showing promising results in clinical trials and studies:
* Rituximab is a widely used monoclonal antibody in treating B-cell malignancies, it is directed against the surface protein CD20. Case studies have documented successful treatment of B-PLL solely with rituximab; additional studies have reported positive activity when rituximab is paired with the chemotherapeutic drugs fludarabine or bendamustine together with the anthracyclines mitoxantrone or epirubicin[12]
* Alemtuzumab is a humanized antibody that targets the CD52 antigen which is highly expressed in malignant B-lymphocytes. In vitro tests have demonstrated that it induces cell death. Furthermore, it is most active in the blood, bone marrow and spleen, all of which are main sites involved with B-PLL and thus could serve as a potential agent in treating this disease with more research[12]
### Splenectomy or Radiation Therapy to Spleen[edit]
Patients with splenomegaly (enlarged spleen), unfit for systemic treatment or refractive to chemotherapy may have their spleens removed via splenectomy or undergo splenic irradiation in order to relieve pain, control their symptoms, and allow removal of a major proliferative focus and tumour bulk in this disease.[10][23]
Splenic irradiation has been used in the treatment.[24]
### Stem Cell Transplantation[edit]
A stem cell transplant is a procedure that uses highly specialized cells called hematopoietic stem cells to replace bone marrow that contains the leukemia. This procedure should be considered in younger patients that have responded well to initial treatments because the progression and spread of this disease is inevitable.[10] However, stem cell transplantation is a high-risk procedure, with significant morbidity and mortality rates. Furthermore, it is often not a feasible option due to the presence of other systemic diseases/conditions.[10][21]
## Prognosis[edit]
Despite advancements in treatments and deeper understanding of pathogenesis, the prognosis for B-PLL patients is poor[25] , with early relapse and median survival time between 3–5 years.[26][27]
## References[edit]
1. ^ "France - Lymphoproliferative Syndrome B-Cell Prolymphocytic Leukemia |". icgc.org. Retrieved 2016-11-18.
2. ^ "The Immune System". www.nobelprize.org. Retrieved 2016-11-20.
3. ^ "The Immune System and Primary Immunodeficiency | Immune Deficiency Foundation". primaryimmune.org. Retrieved 2016-11-20.
4. ^ Ruchlemer R, Parry-Jones N, Brito-Babapulle V, et al. (May 2004). "B-prolymphocytic leukaemia with t(11;14) revisited: a splenomegalic form of mantle cell lymphoma evolving with leukaemia". Br. J. Haematol. 125 (3): 330–6. doi:10.1111/j.1365-2141.2004.04913.x. PMID 15086413.
5. ^ a b "B-cell Prolymphocytic Leukemia (B-PLL) | Chronic Lymphocytic Leukemia". www.knowcancer.com. Retrieved 2016-10-30.
6. ^ Melo, J. V.; Catovsky, D.; Galton, D. A. (1986-06-01). "The relationship between chronic lymphocytic leukaemia and prolymphocytic leukaemia. I. Clinical and laboratory features of 300 patients and characterization of an intermediate group". British Journal of Haematology. 63 (2): 377–387. doi:10.1111/j.1365-2141.1986.tb05563.x. ISSN 0007-1048. PMID 3487341.
7. ^ a b c "B cell prolymphocytic leukemia". www.uptodate.com. Archived from the original on 2017-02-26. Retrieved 2016-10-30.
8. ^ Velden, Vincent H. J. van der; Hoogeveen, Patricia G.; Ridder, Dick de; Struijk, Magdalena Schindler-van der; Zelm, Menno C. van; Sanders, Mathijs; Karsch, Dennis; Beverloo, H. Berna; Lam, King (2014-07-17). "B-cell prolymphocytic leukemia: a specific subgroup of mantle cell lymphoma". Blood. 124 (3): 412–419. doi:10.1182/blood-2013-10-533869. ISSN 0006-4971. PMID 24891323.
9. ^ a b "Prolymphocytic leukaemia | Leukaemia CARE". www.leukaemiacare.org.uk. Retrieved 2016-10-30.
10. ^ a b c d e f g h Dearden, Claire (2012-07-19). "How I treat prolymphocytic leukemia". Blood. 120 (3): 538–551. doi:10.1182/blood-2012-01-380139. ISSN 0006-4971. PMID 22649104. S2CID 5312650.
11. ^ Wiernik, Peter; Goldman, John; Dutcher, Janice; Kyle, Robert (2012). Neoplastic Diseases of the Blood. Springer. p. 84. doi:10.1007/978-1-4614-3764-2. ISBN 9781461437635.
12. ^ a b c Dearden, Claire (2012-12-08). "B- and T-cell prolymphocytic leukemia: antibody approaches". ASH Education Program Book. 2012 (1): 645–651. doi:10.1182/asheducation.V2012.1.645.3798657. ISSN 1520-4391. PMID 23233647.
13. ^ a b c Ravandi, Farhad; O'Brien, Susan (December 2005). "Chronic Lymphoid Leukemias Other Than Chronic Lymphocytic Leukemia: Diagnosis and Treatment". Mayo Clinic Proceedings. 80 (12): 1660–1674. doi:10.4065/80.12.1660. PMID 16342661.
14. ^ Yamamoto K, Hamaguchi H, Nagata K, Shibuya H, Takeuchi H (April 1998). "Splenic irradiation for prolymphocytic leukemia: is it preferable as an initial treatment or not?". Jpn. J. Clin. Oncol. 28 (4): 267–9. doi:10.1093/jjco/28.4.267. PMID 9657013.
15. ^ "Pathology". Archived from the original on 7 February 2009. Retrieved 2009-01-31.
16. ^ Crisostomo RH, Fernandez JA, Caceres W (May 2007). "Complex karyotype including chromosomal translocation (8;14) (q24;q32) in one case with B-cell prolymphocytic leukemia". Leuk. Res. 31 (5): 699–701. doi:10.1016/j.leukres.2006.06.010. PMID 16997373.
17. ^ Alao, John P. (2007-01-01). "The regulation of cyclin D1 degradation: roles in cancer development and the potential for therapeutic invention". Molecular Cancer. 6: 24. doi:10.1186/1476-4598-6-24. ISSN 1476-4598. PMC 1851974. PMID 17407548.
18. ^ Lens D, Matutes E, Catovsky D, Coignet LJ (2000). "Frequent deletions at 11q 23 and 13q14 in B cell prolymphocytic leukemia (B-PLL)". Leukemia. 14 (3): 427–30. doi:10.1038/sj.leu.2401644. PMID 10720137.
19. ^ a b Lens, Daniela; Schouwer, Pierre J. J. C. De; Hamoudi, Rifat A.; Abdul-Rauf, Munah; Farahat, Nahla; Matutes, Estella; Crook, Tim; Dyer, Martin J. S.; Catovsky, Daniel (1997-03-15). "p53 Abnormalities in B-Cell Prolymphocytic Leukemia". Blood. 89 (6): 2015–2023. doi:10.1182/blood.V89.6.2015. ISSN 0006-4971. PMID 9058723.
20. ^ Flatley, Ellen; Chen, Andy I.; Zhao, Xiangrong; Jaffe, Elaine S.; Dunlap, Jennifer B.; Pittaluga, Stefania; Abdullah, Shahed; Olson, Susan B.; Spurgeon, Stephen E. (2014-09-01). "Aberrations of MYC Are a Common Event in B-Cell Prolymphocytic Leukemia". American Journal of Clinical Pathology. 142 (3): 347–354. doi:10.1309/AJCPUBHM8U7ZFLOB. ISSN 0002-9173. PMID 25125625.
21. ^ a b c "Leukemia - B-cell Prolymphocytic Leukemia and Hairy Cell Leukemia: Treatment Options | Cancer.Net". Cancer.Net. 2012-06-25. Retrieved 2016-10-30.
22. ^ a b "Zosyn: B-prolymphocytic leukemia: A case study at The Medical Dictionary". the-medical-dictionary.com. Retrieved 2016-11-19.
23. ^ a b "Prolymphocytic leukemias (PLLs) - Canadian Cancer Society". www.cancer.ca. Retrieved 2016-10-30.
24. ^ Nakashima H, Saito B, Ariizumi H, Matsuda I, Nakamaki T, Tomoyasu S (December 2008). "Splenic irradiation as a successful treatment for an elderly patient with B-cell prolymphocytic leukemia". Rinsho Ketsueki. 49 (12): 1619–22. doi:10.11406/rinketsu.49.1619. PMID 19110524.
25. ^ Del Giudice I, Davis Z, Matutes E, et al. (2006). "IgVH genes mutation and usage, ZAP-70 and CD38 expression provide new insights on B-cell prolymphocytic leukemia (B-PLL)". Leukemia. 20 (7): 1231–7. doi:10.1038/sj.leu.2404238. PMID 16642047.
26. ^ Armitage, James (2004). Atlas of Clinical Hematology. Philadelphia: Lippincott Williams & Wilkins. p. 84. ISBN 9780781751285.
27. ^ Raghavan, Derek; Blanke, Charles; Johnson, David; Moots, Paul; Reaman, Gregory; Rose, Peter; Sekeres, Mikkael (2012). Textbook of Uncommon Cancer. Wiley-Blackwell. p. 617. doi:10.1002/9781118464557. ISBN 9781118083734.
## External links[edit]
Classification
D
* ICD-O: M9833/3
* MeSH: D054403
* 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
|
B-cell prolymphocytic leukemia
|
c0475801
| 7,922 |
wikipedia
|
https://en.wikipedia.org/wiki/B-cell_prolymphocytic_leukemia
| 2021-01-18T19:03:12 |
{"gard": ["8223"], "mesh": ["D054403"], "umls": ["C0475801"], "orphanet": ["86852"], "wikidata": ["Q2086442"]}
|
Male breast cancer
The pink and blue ribbon is used for awareness of male breast cancer.
SpecialtyOncology
Male breast cancer (male breast neoplasm) is a rare cancer in males that originates from the breast. Many males with breast cancer have inherited a BRCA mutation, but there are other causes, including alcohol abuse and exposure to certain hormones and ionizing radiation.
As it presents a similar pathology as female breast cancer, assessment and treatment relies on experiences and guidelines that have been developed in female patients.[1][2][3] The optimal treatment is currently not known.[4]
## Contents
* 1 Pathology
* 2 Diagnosis
* 2.1 Staging
* 2.1.1 Stage I
* 2.1.2 Stage II
* 2.1.2.1 Stage IIA
* 2.1.2.2 Stage IIB
* 2.1.3 Stage III
* 2.1.4 Stage IV
* 2.2 Differences from female breast cancer
* 3 Treatment
* 3.1 Chemotherapeutic and hormonal options
* 4 Prognosis
* 5 Incidence
* 6 References
* 7 External links
## Pathology[edit]
As in females, infiltrating ductal carcinoma is the most common type. While intraductal cancer, inflammatory carcinoma, and Paget's disease of the nipple have been described, lobular carcinoma in situ has not been seen in males.[1] Breast cancer in males spreads via lymphatics and blood stream like female breast cancer. Accordingly, the TNM staging system for breast cancer is the same for males and females.[1]
Size of the lesion and lymph node involvement determine prognosis; thus small lesions without lymph node involvement have the best prognosis. Estrogen receptor and progesterone receptor status and HER2/neu (Human Epidermal Growth Factor Receptor 2) gene amplification need to be reported as they may affect treatment options. About 85% of all male breast cancers are estrogen receptor–positive, and 70% are progesterone receptor–positive.[1]
## Diagnosis[edit]
Typically self-examination leads to the detection of a lump in the breast which requires further investigation. Other less common symptoms include nipple discharge, nipple retraction, swelling of the breast, or a skin lesion such as an ulcer. Ultrasound and mammography may be used for its further definition. The lump can be examined either by a needle biopsy where a thin needle is placed into the lump to extract some tissue or by an excisional biopsy where under local anesthesia a small skin cut is made and the lump is removed. Not all palpable lesions in the male breast are cancerous, for instance a biopsy may reveal a benign fibroadenoma. In a larger study from Finland the average size of a male breast cancer lesion was 1.8 cm.[5] Beside the histologic examination estrogen and progesterone receptor studies are performed. Further, the HER2 test is used to check for a growth factor protein. Its activity can be increased in active cancer cells and helps determine if monoclonal antibody therapy (i.e. Trastuzumab) may be useful.[3]
Male breast cancer can recur locally after therapy, or can become metastatic.
### Staging[edit]
In addition to TNM staging surgical staging for breast cancer is used; it is the same as in female breast cancer and facilitates treatment and analysis.[6]
#### Stage I[edit]
Stage I is an invasive breast cancer with the tumor not exceeding 2 cm and absence of lymph node involvement.
#### Stage II[edit]
Stage II includes stages IIA and IIB.
##### Stage IIA[edit]
One of the following three items applies:
* T0 or T1, N1 (but not N1mi), M0: The tumor is 2 cm or less across (or is not found) (T1 or T0) and either:
* It has spread to 1 to 3 axillary lymph nodes (N1a), but not to distant sites (M0), or
* Tiny amounts of cancer are found in internal mammary lymph nodes on sentinel lymph node biopsy (N1b), but not in distant sites (M0), or
* It has spread to 1 to 3 axillary lymph nodes, and tiny amounts of cancer are found in internal mammary lymph nodes on sentinel lymph node biopsy (N1c), but not to distant sites (M0), or
* T2, N0, M0: The tumor is larger than 2 cm across and less than 5 cm (T2), but it hasn't spread to the lymph nodes (N0) or to distant sites (M0).
##### Stage IIB[edit]
Either of the following applies:
* T2, N1, M0: The tumor is larger than 2 cm and less than 5 cm across (T2). It has spread to 1 to 3 axillary lymph nodes and/or tiny amounts of cancer are found in internal mammary lymph nodes on sentinel lymph node biopsy (N1). It has not spread to distant sites (M0), or
* T3, N0, M0: The tumor is larger than 5 cm across but does not grow into the chest wall or skin (T3). It has not spread to lymph nodes (N0) or to distant sites (M0).
#### Stage III[edit]
Stage III is divided into three subcategories:
* In IIIA there is breast cancer with axillary lymph nodes clumped together or attached to other structures.
* In IIIB the tumor has spread to the chestwall or skin, and may have involved lymph nodes of the axilla and/or breastbone.
* In IIIC the tumor has spread to the chest wall or skin and lymph nodes below or above the collar bone are affected.
#### Stage IV[edit]
Stage IV is applied to metastatic breast cancer; typically lungs, liver, bone, or brain are involved.
### Differences from female breast cancer[edit]
There are significant differences between male and female breast cancer in terms of physical symptoms, physiological and psychological responses, and experiences in health care.[7][8] Lesions are easier to find in males due to the smaller breast size; however, lack of awareness may postpone the seeking of medical attention. The presence of gynecomastia may mask the condition. The diagnosis is made later in males—at age 67 on average—than in females with their average at 63.[9] Lesions are less contained in males as they do not have to travel far to infiltrate skin, nipple, or muscle tissue.[3] Thus, lesions in males tend to be more advanced.[5] Almost half of male breast cancer patients are stage III or IV.[10] In familial cases, male BRCA2 carriers are at higher risk, rather than BRCA1 carriers.[10] With the relative infrequency of male breast cancer, randomized studies are lacking.[10]
## Treatment[edit]
Treatment largely follows patterns that have been set for the management of postmenopausal breast cancer.[5] The initial treatment is surgical and consists of a modified radical mastectomy with axillary dissection or lumpectomy and radiation therapy with similar treatment results as in females.[3] Also, mastectomy with sentinel lymph node biopsy is a treatment option.[10] In males with node-negative tumors, adjuvant therapy is applied under the same considerations as in females with node-negative breast cancer. Similarly, with node-positive tumors, males increase survival using the same adjuvants as affected females, namely both chemotherapy plus tamoxifen and other hormonal therapy.[3] There are no controlled studies in males comparing adjuvant options. In the vast majority of males with breast cancer hormone receptor studies are positive, and those situations are typically treated with hormonal therapy.
Locally recurrent disease is treated with surgical excision or radiation therapy combined with chemotherapy.[1] Distant metastases are treated with hormonal therapy, chemotherapy, or a combination of both. Bones can be affected either by metastasis or weakened from hormonal therapy; bisphosphonates and calcitonin may be used to counterbalance this process and strengthen bones.
### Chemotherapeutic and hormonal options[edit]
Chemotherapeutic options include:
* Cyclophosphamide plus methotrexate plus fluorouracil (CMF).
* Cyclophosphamide plus doxorubicin plus fluorouracil (CAF).
* Trastuzumab (monoclonal antibody therapy).
Hormonal options include:
* Orchiectomy.[citation needed]
* Gonadotropin hormone releasing hormone agonist (GNRH agonist) with or without total androgen blockage (anti-androgen).[citation needed]
* Tamoxifen for estrogen receptor–positive patients.
* Progesterone.[citation needed]
* Aromatase inhibitors.
## Prognosis[edit]
Adjusted for age and stage the prognosis for breast cancer in males is similar to that in females.[10] Prognostically favorable are smaller tumor size and absence or paucity of local lymph node involvement.[11] Hormonal treatment may be associated with hot flashes and impotence.
## Incidence[edit]
About one percent of breast cancer develops in males.[4] It is estimated that about 2,140 new cases are diagnosed annually in the United States (US) and about 300 in the United Kingdom (UK).[2] The number of annual deaths in the US is about 440 (for 2016 "but fairly stable over the last 30 years").[3] In a study from India, eight out of 1,200 (0.7%) male cancer diagnoses in a pathology review represented breast cancer.[12] Incidence of male breast cancer has been increasing which raises the probability of other family members developing the disease. The relative risk of breast cancer for a female with an affected brother is approximately 30% higher than for a female with an affected sister.[9][10][13] The tumor can occur over a wide age range, but typically appears in males in their sixties and seventies.
Known risk factors include radiation exposure, exposure to female hormones (estrogen), and genetic factors. High estrogen exposure may occur by medications, obesity, or liver disease, and genetic links include a high prevalence of female breast cancer in close relatives.[3] Chronic alcoholism has been linked to male breast cancer.[5] The highest risk for male breast cancer is carried by males with Klinefelter syndrome.[10] Male BRCA mutation carriers are thought to be at higher risk for breast cancer as well, with roughly 10% of male breast cancer cases carrying BRCA2 mutations, and BRCA1 mutation being in the minority.[14][15]
## References[edit]
1. ^ a b c d e "Male Breast Cancer Treatment". National Cancer Institute. 2006. Retrieved 2010-05-14.
2. ^ a b "Breast Cancer in Men". Cancer Research UK. 2007. Archived from the original on 2008-12-01. Retrieved 2010-05-14.
3. ^ a b c d e f g "Breast Cancer in Men" (PDF). American Cancer Society. February 9, 2011. Retrieved 2011-04-24.
4. ^ a b Korde, L. A.; Zujewski, J. A.; Kamin, L.; Giordano, S.; Domchek, S.; Anderson, W. F.; Bartlett, J. M. S.; Gelmon, K.; Nahleh, Z.; Bergh, J.; Cutuli, B.; Pruneri, G.; McCaskill-Stevens, W.; Gralow, J.; Hortobagyi, G.; Cardoso, F.; et al. (2010). "Multidisciplinary Meeting on Male Breast Cancer: Summary and Research Recommendations". Journal of Clinical Oncology. 28 (12): 2114–2122. doi:10.1200/JCO.2009.25.5729. PMC 2860409. PMID 20308661..
5. ^ a b c d Liukkonen, S.; Saarto, T.; Mäenpää, H.; Sjöström-Mattson, J. (2010). "Male breast cancer: A survey at the Helsinki University Central Hospital during 1981–2006". Acta Oncologica. 49 (3): 322–327. doi:10.3109/02841861003591723. PMID 20397767{{inconsistent citations}}.
6. ^ Breastcancer.org. "Stages of Breast Cancer". Retrieved 2010-05-20.
7. ^ Fentiman, Ian S. (1 August 2018). "Unmet needs of men with breast cancer". European Journal of Surgical Oncology. 44 (8): 1123–1126. doi:10.1016/j.ejso.2018.05.004. ISSN 0748-7983. PMID 29801720.
8. ^ Giordano, Sharon H. (14 June 2018). "Breast Cancer in Men". New England Journal of Medicine. 378 (24): 2311–2320. doi:10.1056/NEJMra1707939. ISSN 0028-4793. PMID 29897847.
9. ^ a b bhakti (2010-04-16). "Increased Breast Cancer in Men". Archived from the original on 2010-04-29. Retrieved 2010-05-15.
10. ^ a b c d e f g Gómez-Raposo, C.; Zambrana Tévar, F.; Sereno Moyano, M.; Casado, Enrique; et al. (2010). "Male breast cancer". Cancer Treatment Reviews. 36 (6): 451–457. doi:10.1016/j.ctrv.2010.02.002. PMID 20193984.
11. ^ Ottini, L.; Palli, D.; Rizzo, S.; Federico, Mario; Bazan, Viviana; Russo, Antonio; et al. (2009). "Male breast cancer". Critical Review in Oncology/Hematology. 73 (2): 141–155. doi:10.1016/j.critrevonc.2009.04.003. hdl:10447/42635. PMID 19427229..
12. ^ Kalyani, R.; Days, S.; Bindra Singh, M. S.; Kumar, H. (2010). "Cancer profile in Kolar: A ten years study". Indian Journal of Cancer. 47 (2): 160–165. doi:10.4103/0019-509X.63011. PMID 20448380{{inconsistent citations}}.
13. ^ Orr, Nick; Et. all (23 September 2012). "Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk". Nature Genetics. 44 (11): 1182–1184. doi:10.1038/ng.2417. PMC 3722904. PMID 23001122.
14. ^ Mohamad, H. B.; Apffelstaedt, J. P. (2008). "Counseling for male BRCA mutation carriers – a review". The Breast. 17 (5): 441–450. doi:10.1016/j.breast.2008.05.001. PMID 18657973{{inconsistent citations}}.
15. ^ Orr, Nick; et. all (23 September 2012). "Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk". Nature Genetics. 44 (11): 1182–4. doi:10.1038/ng.2417. PMC 3722904. PMID 23001122.
## External links[edit]
Classification
D
* ICD-10: C50
* ICD-9-CM: 175,175.0,175.9,
* OMIM: 114480
* MeSH: D001943
External resources
* MedlinePlus: 000913
* v
* t
* e
Breast cancer
Types
Ductal
* Ductal carcinoma in situ (DCIS): Paget's disease of the breast
* Comedocarcinoma
* Invasive ductal carcinoma (IDC)
* Intraductal papilloma
Lobular
* Lobular carcinoma in situ (LCIS)
* Invasive lobular carcinoma (ILC)
Fibroepithelial/stromal
* Fibroadenoma
* Phyllodes tumor
Other
* Medullary carcinoma
* Male breast cancer
* Inflammatory breast cancer
* Precursor lesions
* Atypical ductal hyperplasia
* Nipple adenoma
General
* Breast cancer
* Classification
* Risk factors
* Alcohol
* Hereditary breast—ovarian cancer syndrome
* BRCA mutation
* Screening
* Treatment
Other
* Breast cancer awareness
* Pink ribbon
* National Breast Cancer Awareness Month
* List of people with breast cancer
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Male breast cancer
|
c0242788
| 7,923 |
wikipedia
|
https://en.wikipedia.org/wiki/Male_breast_cancer
| 2021-01-18T19:04:55 |
{"gard": ["9312"], "mesh": ["D018567"], "umls": ["C0242788"], "icd-9": ["175"], "icd-10": ["C50"], "wikidata": ["Q6742919"]}
|
Tumour cells on blood smear
Carcinocythemia
Other namesCarcinoma cell leukemia
A case of carcinocythemia. The large, round cells are breast cancer cells circulating in the peripheral blood.[1]
SpecialtyHematology, oncology
CausesUsually secondary to metastatic cancer in the bone marrow
Differential diagnosisAcute leukemia, lymphoma, leukemoid reaction, circulating immature cells from chemotherapy, circulating endothelial cells, megakaryocytes or osteoclasts
PrognosisPoor; 15% survival rate at 6 months
Carcinocythemia, also known as carcinoma cell leukemia,[2] is a condition in which cells from malignant tumours of non-hematopoietic origin are visible on the peripheral blood smear.[3][4] It is an extremely rare condition,[5] with 33 cases identified in the literature from 1960 to 2018.[4] Carcinocythemia typically occurs secondary to infiltration of the bone marrow by metastatic cancer[6] and carries a very poor prognosis.[3][4][5]
## Contents
* 1 Presentation
* 2 Mechanism
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 History
* 5 Other animals
* 6 References
* 7 External links
## Presentation[edit]
Carcinocythemia occurs most commonly in breast cancer, followed by small cell lung cancer, and usually appears late in the course of the disease.[4] Thrombosis and disseminated intravascular coagulation are frequently reported in association with carcinocythemia.[2][4] The prognosis is poor: a review of 26 patients found that 85% died within 6 months of the diagnosis, with an average time of 6.1 weeks between diagnosis and death.[4]
The amount of tumour cells on the blood smear can range from 1 to 80 percent of the total white blood cell count,[4] with lower percentages being more common.[3] Carcinocythemia is distinct from the presence of circulating tumour cells (CTCs), as CTCs usually occur in such low quantities that they cannot be seen on blood smear examination, requiring special techniques for detection.[2][7]
## Mechanism[edit]
The mechanism of carcinocythemia is poorly understood. Some patients with carcinocythemia show evidence of impaired spleen function, and it has been suggested that dysfunction of the reticuloendothelial system, preventing phagocytosis of malignant cells, could contribute to the presence of tumour cells in the blood.[4][8]
## Diagnosis[edit]
Carcinocythemia can be detected on a routine blood smear examination or manual differential.[8] If the number of suspicious cells is low, a smear can be prepared from the buffy coat of the blood sample to concentrate the cells.[3]
Tumour cells in peripheral blood may look similar to circulating blasts or lymphoma cells.[3][9] Features that aid in distinguishing tumour cells from other cells include their very large size, mature nuclear chromatin pattern, vacuolated cytoplasm, and their tendency to appear in clumps or clusters, although some of these characteristics are shared by megakaryoblasts and monoblasts. Tumour cells are often found at the edge of the blood smear due to their large size, so this area should be examined thoroughly if carcinocythemia is suspected.[4]
Cytochemical staining and immunohistochemistry techniques can help determine the lineage of the cells.[4] When immunophenotyped by flow cytometry, the cells are generally CD45 negative and may express CD56, a profile that is non-specific but unusual for hematologic malignancies.[3] In some cases, flow cytometry and FISH results may be misleading, as circulating tumour cells can exhibit cell markers and chromosomal abnormalities associated with hematologic diseases.[4]
Bone marrow examination is indicated in carcinocythemia to better characterize the tumour cells.[3][4]
### Differential diagnosis[edit]
Carcinocythemia must be distinguished from the following conditions:[3][4][8]
* Acute leukemia
* Circulating immature cells secondary to chemotherapy
* Circulating endothelial cells, megakaryocytes or osteoclasts
* Leukemoid reaction
* Lymphoma
## History[edit]
The presence of tumour cells in the peripheral blood of a cancer patient was first described in an 1869 case report in the Medical Journal of Australia.[8][10] The term carcinocythemia was first used in 1976 by Robert Carey.[8][11] In 1984, a review of 10 cases was published, noting the condition's poor prognosis.[12]
## Other animals[edit]
As of 2018, there were two documented cases of carcinocythemia in dogs and one case in a cat.[13]
## References[edit]
1. ^ Ogura, Kanako; Amano, Maki; Matsumoto, Toshiharu; Sakaguchi, Asumi; Kosaka, Taijiro; Kitabatake, Toshiaki; Kojima, Kuniaki (2015). "Occult Breast Lobular Carcinoma with Numerous Circulating Tumor Cells in Peripheral Blood". Case Reports in Pathology. 2015: 1–6. doi:10.1155/2015/135684. ISSN 2090-6781. PMC 4496473. PMID 26199779.
2. ^ a b c Johnsrud, Andrew J.; Pina-Oviedo, Sergio (2017). "Carcinocythemia (carcinoma cell leukemia)". Blood. 130 (21): 2357. doi:10.1182/blood-2017-08-799882. ISSN 0006-4971. PMID 29170195.
3. ^ a b c d e f g h Irma Pereira; Tracy I. George; Daniel A. Arber (7 December 2011). "Chapter 20: Nonhematopoietic tumors in the blood". Atlas of Peripheral Blood: The Primary Diagnostic Tool. Lippincott Williams & Wilkins. pp. 185–7. ISBN 978-1-4511-6366-7.
4. ^ a b c d e f g h i j k l m Ronen, Shira; Kroft, Steven H.; Olteanu, Horatiu; Hosking, Paul R.; Harrington, Alexandra M. (2019). "Carcinocythemia: A rare entity becoming more common? A 3-year, single institution series of seven cases and literature review". International Journal of Laboratory Hematology. 41 (1): 69–79. doi:10.1111/ijlh.12924. ISSN 1751-5521. PMID 30216684. S2CID 52278041.
5. ^ a b Noel Weidner; Richard J. Cote; Saul Suster; Lawrence M. Weiss (8 July 2009). Modern Surgical Pathology. Elsevier Health Sciences. pp. 1593–. ISBN 978-1-4377-1958-1.
6. ^ Michael Caligiuri; Marcel M. Levi; Kenneth Kaushansky; Marshall A. Lichtman, Josef Prchal, Linda J Burns, Oliver W Press (23 December 2015). Williams Hematology, 9E. McGraw-Hill Education. p. 658. ISBN 978-0-07-183300-4.CS1 maint: multiple names: authors list (link)
7. ^ Krishnamurthy, Savitri (2012). "The emerging role of circulating tumor cells in breast cancer". Cancer Cytopathology. 120 (3): 161–166. doi:10.1002/cncy.20207. ISSN 1934-662X. PMID 22275137.
8. ^ a b c d e Chang, Yuan-Hsin; Hsieh, Ruey-Kuen; Chang, Ming-Chi; Chen, Gon-Shen (2007). "Breast cancer with an unusual leukemia-like presentation: case report and literature review". Medical Oncology. 25 (1): 100–103. doi:10.1007/s12032-007-0048-2. ISSN 1357-0560. PMID 18188722. S2CID 20417675.
9. ^ Lugassy G, Vorst EJ, Varon D, Sigler E, Shani A, Bassous-Guedj L. (1990). "Carcinocythemia. Report of two cases, one simulating a Burkitt lymphoma". Acta Cytol. 34 (2): 265–8. PMID 2157324.CS1 maint: multiple names: authors list (link)
10. ^ Ashworth, T.R. (1869). "(1869) A Case of Cancer in Which Cells Similar to Those in the Tumours Were Seen in the Blood after Death". The Medical Journal of Australia. 14: 146–147.
11. ^ Carey, Robert W.; Taft, Priscilla D.; Bennett, John M.; Kaufman, Sheldon (1976). "Carcinocythemia (carcinoma cell leukemia)". The American Journal of Medicine. 60 (2): 273–278. doi:10.1016/0002-9343(76)90437-X. ISSN 0002-9343. PMID 1062163.
12. ^ Gallivan, Monica V. E.; Lokich, Jacob J. (1984). "Carcinocythemia (carcinoma cell leukemia). Report of two cases with english literature review". Cancer. 53 (5): 1100–1102. doi:10.1002/1097-0142(19840301)53:5<1100::AID-CNCR2820530514>3.0.CO;2-K. ISSN 0008-543X. PMID 6362836.
13. ^ Sá e Lemos, Eva; Lima de Carvalho, Hugo; Gil da Costa, Rui M.; Pinto da Cunha, Nazaré (2018). "Carcinocythemia: First report in a cat and literature review". Veterinary Clinical Pathology. 47 (1): 142–145. doi:10.1111/vcp.12565. ISSN 0275-6382. PMID 29360147.
## External links[edit]
* Images of carcinocythemia at the American Society of Hematology image bank
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Carcinocythemia
|
None
| 7,924 |
wikipedia
|
https://en.wikipedia.org/wiki/Carcinocythemia
| 2021-01-18T18:49:40 |
{"wikidata": ["Q74426740"]}
|
Olfactory neuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated with the sense of smell (olfactory nerve). It can occur at any age, but typically is found in adulthood. Symptoms may be nonspecific and include a blockage of the nasal passageways due to the tumor, facial pain, runny nose, and nosebleeds. Treatment usually includes surgery to remove the tumor, radiation therapy, and sometimes chemotherapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Olfactory neuroblastoma
|
c0206717
| 7,925 |
gard
|
https://rarediseases.info.nih.gov/diseases/2197/olfactory-neuroblastoma
| 2021-01-18T17:58:37 |
{"mesh": ["D018304"], "umls": ["C0206717"], "orphanet": ["1957"], "synonyms": ["Esthesioneuroblastoma"]}
|
A number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-4 (CDCBM4) is caused by heterozygous mutation in the TUBG1 gene (191135) on chromosome 17q21.
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Clinical Features
Poirier et al. (2013) reported 3 unrelated patients with complex cortical malformations. Two had a more severe disorder, with microcephaly (-5.5 SD and -4 SD, respectively), spastic tetraplegia, posterior agyria, frontal pachygyria, and a thick cortex. One had thin corpus callosum and 1 had thick and dysmorphic corpus callosum. They were bedridden with spastic tetraplegia at ages 21 years and 1.5 years, respectively. The third patient, who was 31 years of age, did not have microcephaly and had moderate intellectual disability. MRI showed posterior pachygyria, posterior subcortical band heterotopia, and thick and dysmorphic corpus callosum. The patient also had cataract. All patients had early-onset seizures.
Molecular Genetics
In 3 unrelated patients with complex cortical malformations, Poirier et al. (2013) identified heterozygous mutations in the TUBG1 gene (191135.0001-191135.0003). Two of the mutations were confirmed to be de novo, whereas DNA from the third patient's father was unavailable. The first 2 mutations were found by whole-exome sequencing and were not present in several genomic databases, including dbSNP, 1000 Genomes, the Exome Variant Server, and a local Paris Descartes Bioinformatics platform database. The third mutation was found by screening 162 individuals with various malformations of cortical development for variants in the same gene. In vitro functional expression studies of some of the mutations suggested that they caused defects in mitotic microtubule organization. Knockdown of Tubg1 in mouse embryos altered cortical radial neuronal migration, with an arrest of migrating cells in the subventricular and intermediate zone and impaired migration to the cortical plate. Poirier et al. (2013) postulated a dominant-negative effect. The findings indicated that TUBG1 has a role in neuronal migration during corticogenesis, and extended the association between microtubule-based cellular processes and proper cortical development.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Microcephaly (in some patients) Eyes \- Cataract (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Spastic tetraplegia (in some patients) \- Seizures \- Malformations of cortical development \- Posterior agyria \- Posterior pachygyria \- Thick cortex \- Dysmorphic corpus callosum \- Subcortical band heterotopia MISCELLANEOUS \- Variable severity \- Mutations occur de novo \- Three unrelated patients have been reported (last curated September 2013) MOLECULAR BASIS \- Caused by mutation in the tubulin, gamma-1 gene (TUBG1, 191135.0001 ) ▲ 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
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
|
c3809420
| 7,926 |
omim
|
https://www.omim.org/entry/615412
| 2019-09-22T15:52:13 |
{"omim": ["615412"]}
|
"Milia" redirects here. For other uses, see Milia (disambiguation).
Milia
Milia on the eyelid of an adult male
SpecialtyDermatology
Relative incidence of cutaneous cysts. Milia is labeled at bottom right.
A milium (plural milia), also called a milk spot or an oil seed,[citation needed] is a clog of the eccrine sweat gland. It is a keratin-filled cyst that can appear just under the epidermis or on the roof of the mouth.[1][2]:780 Milia are commonly associated with newborn babies but can appear on people of all ages.[3]:680 They are usually found around the nose and eyes, and sometimes on the genitalia, often mistaken by those affected as warts or other sexually transmitted diseases. Milia can also be confused with stubborn whiteheads.
In children, milia often but not always disappear within two to four weeks. For adults, they can be removed by a physician (a dermatologist will have specialist knowledge in this area). A common method that a dermatologist will use to remove a milium is to nick the skin with a #11 surgical blade and then use a comedone extractor to press the cyst out.[4]
## See also[edit]
* Eruptive vellus hair cyst
* Sebaceous hyperplasia
* Seborrheic keratosis
## References[edit]
1. ^ "milium" at Dorland's Medical Dictionary
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
4. ^ Burnett, Mark E.; Levitt, Jacob O. (2015). "Incision and Drainage (Abscesses, Acne, and Milia)". In Levitt, J.; Sobak, J. (eds.). Safety in Office-Based Dermatologic Surgery. Switzerland: Spring, Cham. pp. 119–128. doi:10.1007/978-3-319-13347-8_13.
Classification
D
* ICD-10: L72.8 (ILDS L72.830)
* ICD-9-CM: 374.84, 704.8, 706.1
* DiseasesDB: 001367
External resources
* MedlinePlus: 001367
* eMedicine: article/1058063
* Patient UK: Milium (dermatology)
Wikimedia Commons has media related to Milium (disease).
* 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
This Epidermal nevi, neoplasms, cysts 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
|
Milium (dermatology)
|
c0345996
| 7,927 |
wikipedia
|
https://en.wikipedia.org/wiki/Milium_(dermatology)
| 2021-01-18T18:45:40 |
{"umls": ["C0345996"], "icd-9": ["706.1", "704.8", "374.84"], "icd-10": ["L72.0"], "wikidata": ["Q1934449"]}
|
Sleep state misperception
Other namesParadoxical insomnia, pseudo-insomnia, subjective insomnia, subjective sleepiness, sleep hypochondriasis[1]
SpecialtySleep medicine
Sleep state misperception (SSM) is a term in the International Classification of Sleep Disorders (ICSD) most commonly used for people who mistakenly perceive their sleep as wakefulness,[1][2] though it has been proposed that it be applied to those who severely overestimate their sleep time as well[3] ("positive" sleep state misperception).[4] While most sleepers with this condition will report not having slept in the previous night at all or having slept very little,[5] clinical recordings generally show normal sleep patterns. Though the sleep patterns found in those with SSM have long been considered indistinguishable from those without, some preliminary research suggest there may be subtle differences (see Symptoms and diagnosis: Spectral analysis).[6]
Patients are otherwise generally in good health,[1] and any illnesses—such as depression—appear to be more associated with fear of negative consequences of insomnia ("insomnia phobia") than from any actual loss of sleep.[7]
Sleep state misperception was adopted by the ICSD to replace two previous diagnostic terminologies: "subjective insomnia complaint without objective findings" and "subjective sleepiness complaint without objective findings."[1]
## Contents
* 1 Classification
* 2 Symptoms and diagnosis
* 2.1 Diagnostic criteria
* 2.2 Detection and difficulties
* 2.3 Spectral analysis
* 2.4 Distinction from insomnia
* 3 Treatment
* 3.1 Complications
* 4 Epidemiology
* 5 See also
* 6 References
* 7 External links
## Classification[edit]
Sleep state misperception is classified as an intrinsic dyssomnia.[8][9] While SSM is regarded a sub-type of insomnia, it is also established as a separate sleep-condition, with distinct pathophysiology.[1][10] Nonetheless, the value of distinguishing this type of insomnia from other types is debatable due to the relatively low frequency of SSM being reported.[3]
Sleep state misperception can also be further broken down into several types, by patients who:
* report short sleep (subjective insomnia complaint without objective findings)[1]
* or no sleep at all (subjective total insomnia)[2]
* report excessive daytime sleepiness (subjective sleepiness complaint without objective findings)[1]
* report sleeping too much (subjective hypersomnia without objective findings)[4][11]
## Symptoms and diagnosis[edit]
Sleep waves (EEG highlighted above) recorded from those with SSM may appear indistinguishable from those without.
This sleep disorder frequently applies when patients report not feeling tired despite their subjective perception of not having slept.[12] Generally, they may describe experiencing several years of no sleep, short sleep, or non-restorative sleep. Otherwise, patients appear healthy, both psychiatrically and medically.[1] (That this condition is often asymptomatic could explain why it is relatively unreported.)
However, upon clinical observation, it is found that patients may severely overestimate the time they took to fall asleep—often reporting having slept half the amount of time indicated by polysomnogram or electroencephalography (EEG), which may record normal sleep.[5] Observing such discrepancy between subjective and objective reports, clinicians may conclude that the perception of poor sleep is primarily illusionary.
Alternatively, some people may report excessive daytime sleepiness or chronic disabling sleepiness, while no sleep disorder has been found to exist.[1] Methods of diagnosing sleepiness objectively, such as the Multiple Sleep Latency Test do not confirm the symptom — objective sleepiness is not observed despite the complaint.[13]
Finally, on the opposite end of the spectrum, other patients may report feeling that they have slept much longer than is observed.[13] It has been proposed that this experience be subclassified under sleep state misperception as "positive sleep state misperception", "reverse sleep state misperception", and "negative sleep state misperception".
### Diagnostic criteria[edit]
The patient has a complaint of insomnia while sleep quality and duration are normal. Polysomnographic monitoring demonstrates normal sleep latency, a normal number of arousals and awakenings, and normal sleep duration with or without a multiple sleep latency test that demonstrates a mean sleep latency of greater than 10 minutes. No medical or mental disorder produces the complaint. Other sleep disorders producing insomnia are not present to a degree that would explain the patient’s complaint.
### Detection and difficulties[edit]
Detecting sleep state misperception by objective means has been elusive.[1][3]
A 2011 study published in the journal Psychosomatic Medicine has shown that sleep misperception (i.e., underestimation of sleep duration) is prevalent among chronic insomniacs who sleep objectively more than 6 hours in the sleep lab. The psychological profile of these chronic insomniacs with objective normal sleep duration is characterized by depressive, anxious-ruminative traits and poor coping resources. Thus, it appears that not all chronic insomniacs underestimate their sleep duration, and that sleep misperception is a clinical characteristic of chronic insomniacs with objective normal sleep duration. Furthermore, rumination and poor coping resources may play a significant role in sleep misperception.[14]
### Spectral analysis[edit]
According to a May 2014 article published in New Scientist, spectral analysis may help clinicians find objective evidence for sleep state misperception:
> [...] it uncovered [...] subtle differences in the EEGs of sleeping insomniacs: alpha waves – signatures of wakefulness that are supposed to show up only in early sleep – were intruding into deep sleep. [...] [psychologist and sleep researcher Michael] Perlis. But Andrew Krystal of Duke University in Durham, North Carolina, used spectral analysis to quantify just how much they were intruding. Krystal's non-sleepers not only had a greater proportion of these alpha disturbances, but the alpha waves were bigger and the delta waves were correspondingly smaller. That wasn't all. When Perlis and other researchers applied spectral analysis algorithms to the EEGs of their sleeping insomniacs, they found different patterns, fast waves known as beta and gamma (Sleep, vol 24, p 110). Normally, these are indicators of consciousness, alertness and even anxiety [...] Like alpha waves, Perlis calls these beta and gamma waves "intrusions" into normal sleep: "It's as if somebody is playing with the switch – boop, boop – flipping at a mad rate between wake and sleep".[6]
### Distinction from insomnia[edit]
What is considered objective insomnia, unlike SSM, can easily be confirmed empirically through clinical testing, such as by polysomnogram.[15] Those who experience SSM may believe that they have not slept for extended periods of time, when they in fact do sleep but without perceiving it. For example, while patients who claim little or no sleep may usually acknowledge impaired job performance and daytime drowsiness, sleep state misperceivers often do not.[16]
Cases of objective total insomnia are extremely rare. The few that have been recorded have predominantly been ascribed to a rare incurable genetic disorder called fatal familial insomnia, which patients rarely survive for more than 26 months after the onset of illness—often much less.[17]
## Treatment[edit]
Behavioral treatment can be effective in some cases.[1] Sedative hypnotics may also help relieve the symptoms.[18] Additionally, education about normal patterns of the sleep-wake cycle may alleviate anxiety in some patients.[1] For patients with severe depression resulting from the fear of having insomnia, electroconvulsive therapy appears to be a safe and effective treatment.[7]
### Complications[edit]
A subject who is not being monitored (by a recording or other observer) may not have a way to tell if a treatment is working properly due to the amnesic nature of SSM.
The condition may worsen as a result of persistent attempts to treat the symptoms through conventional methods of dealing with insomnia. The prescription of hypnotics or stimulants may lead to drug dependency as a complication.[1]
Nonetheless, chronic SSM may increase risk for depression, anxiety, and substance abuse.[3] It has also been noted that patients with this condition may sometimes opt to take medications over other treatments "for the wrong reasons (e.g. because of euphoriant properties)."[15]
## Epidemiology[edit]
SSM is poorly understood. As of 2008, there is little to no information regarding risk factors or prevention,[1] though it is believed to be most prevalent among young to middle aged adults.[3]
Distribution among the general population and by gender is unknown. About 5% of the clinical population may be affected,[3] though that figure is subject to sampling bias.
## See also[edit]
* Second wind (sleep)
* Somniphobia
## References[edit]
1. ^ a b c d e f g h i j k l m n Minecan, Daniela, and Antonio Culebras. http://www.medlink.com/web_content/MLT0003S.asp[dead link] "Sleep state misperception." MedLink Neurology. Originally published: September 6, 1995. Updated: October 29, 2008.
2. ^ a b McCall, WV; Edinger, JD (1992). "Subjective total insomnia: an example of sleep state misperception". Sleep. 15 (1): 71–3. PMID 1557596.
3. ^ a b c d e f Kushida, Clete A. Handbook of Sleep Disorders. Informa Health Care, 2008. ISBN 0-8493-7319-0, ISBN 978-0-8493-7319-0. (Page 32)
4. ^ a b Trajanovic, N; Radivojevic, V; Kaushansky, Y; Shapiro, C (2007). "Positive sleep state misperception – A new concept of sleep misperception". Sleep Medicine. 8 (2): 111–8. doi:10.1016/j.sleep.2006.08.013. PMID 17275407.
5. ^ a b Insomnia Causes. Healthcommunities.com. Original Publication: 01 Dec 2000. Updated: 01 Dec 2007.
6. ^ a b Finkbeiner, Ann (2014), "Awake asleep: Insomniac brains that can't switch off", New Scientist (2969): 34, archived from the original on 2014-09-09
7. ^ a b Case, K; Hurwitz, TD; Kim, SW; Cramer-Bornemann, M; Schenck, CH (2008). "A case of extreme paradoxical insomnia responding selectively to electroconvulsive therapy". Journal of Clinical Sleep Medicine. 4 (1): 62–3. PMC 2276826. PMID 18350965.
8. ^ Dysomnia causes Archived 2011-07-21 at the Wayback Machine. Icantgetnosleep.info. November 4, 2009[unreliable medical source?]
9. ^ The International Classification of Sleep Disorders. Holisticonline.com[unreliable medical source?]
10. ^ Edinger, J; Krystal, AD (2003). "Subtyping primary insomnia: is sleep state misperception a distinct clinical entity?". Sleep Medicine Reviews. 7 (3): 203–14. doi:10.1053/smrv.2002.0253. PMID 12927120.
11. ^ Coleman, R. M.; Roffwarg, HP; Kennedy, SJ; Guilleminault, C; Cinque, J; Cohn, MA; Karacan, I; Kupfer, DJ; et al. (1982). "Sleep-wake disorders based on a polysomnographic diagnosis. A national cooperative study". JAMA. 247 (7): 997–1003. doi:10.1001/jama.247.7.997. PMID 7057593.
12. ^ Insomnia Information Sleepnet.com - Insomnia Information[unreliable medical source?]
13. ^ a b Conroy, Deirdre A; Culebras, Antonio (2013). "Paradoxical insomnia".
14. ^ Fernandez-Mendoza J, Calhoun S, Bixler E, Karataraki M, Liao D, Vela-Bueno A, Ramos-Platon M, Sauder K, Basta M, Vgontzas A. "Sleep Misperception and Chronic Insomnia in the General Population: The Role of Objective Sleep Duration and Psychological Profiles." Psychosomatic Medicine, 2011; 73(1): 88-97. doi:10.1097/PSY.0b013e3181fe365a.
15. ^ a b Littner, M; Hirshkowitz, M; Kramer, M; Kapen, S; Anderson, WM; Bailey, D; Berry, RB; Davila, D; et al. (2003). "Practice parameters for using polysomnography to evaluate insomnia: an update". Sleep. 26 (6): 754–60. doi:10.1093/sleep/26.6.754. PMID 14572131.
16. ^ Paradoxical Insomnia
17. ^ Schenkein, Joyce Fatal Familial Insomnia. Part 1: What Is Fatal Familial Insomnia. Medscape.
18. ^ Hauri PJ. "Primary insomnia." Principles and practice of sleep medicine. 2nd ed. Philadelphia: WB Saunders, 1994.[page needed]
## External links[edit]
Classification
D
* ICD-10: F51.0, G47.0
* ICD-9-CM: 307.42, 307.49, 780.52
* MeSH: D020919
* DiseasesDB: 26877
* SNOMED CT: 427745001
External resources
* eMedicine: med/2698
* v
* t
* e
Sleep and sleep disorders
Stages of sleep cycles
* Rapid eye movement (REM)
* Non-rapid eye movement
* Slow-wave
Brain waves
* Alpha wave
* Beta wave
* Delta wave
* Gamma wave
* K-complex
* Mu rhythm
* PGO waves
* Sensorimotor rhythm
* Sleep spindle
* Theta wave
Sleep disorders
Dyssomnia
* Excessive daytime sleepiness
* Hypersomnia
* Insomnia
* Kleine–Levin syndrome
* Narcolepsy
* Night eating syndrome
* Nocturia
* Sleep apnea
* Catathrenia
* Central hypoventilation syndrome
* Obesity hypoventilation syndrome
* Obstructive sleep apnea
* Periodic breathing
* Sleep state misperception
Circadian rhythm
disorders
* Advanced sleep phase disorder
* Cyclic alternating pattern
* Delayed sleep phase disorder
* Irregular sleep–wake rhythm
* Jet lag
* Non-24-hour sleep–wake disorder
* Shift work sleep disorder
Parasomnia
* Bruxism
* Nightmare disorder
* Night terror
* Periodic limb movement disorder
* Rapid eye movement sleep behavior disorder
* Sleepwalking
* Somniloquy
Benign phenomena
* Dreams
* Exploding head syndrome
* Hypnic jerk
* Hypnagogia / Sleep onset
* Hypnopompic state
* Sleep paralysis
* Sleep inertia
* Somnolence
* Nocturnal clitoral tumescence
* Nocturnal penile tumescence
* Nocturnal emission
Treatment
* Sleep diary
* Sleep hygiene
* Sleep induction
* Hypnosis
* Lullaby
* Somnology
* Polysomnography
Other
* Sleep medicine
* Behavioral sleep medicine
* Sleep study
Daily life
* Bed
* Bunk bed
* Daybed
* Four-poster bed
* Futon
* Hammock
* Mattress
* Sleeping bag
* Bed bug
* Bedding
* Bedroom
* Bedtime
* Bedtime story
* Bedtime toy
* Biphasic and polyphasic sleep
* Chronotype
* Dream diary
* Microsleep
* Mouth breathing
* Nap
* Nightwear
* Power nap
* Second wind
* Siesta
* Sleep and creativity
* Sleep and learning
* Sleep deprivation / Sleep debt
* Sleeping while on duty
* Sleepover
* Snoring
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Sleep state misperception
|
c0752286
| 7,928 |
wikipedia
|
https://en.wikipedia.org/wiki/Sleep_state_misperception
| 2021-01-18T18:53:24 |
{"mesh": ["D020919"], "icd-9": ["307.42", "307.49", "780.52"], "icd-10": ["G47.0", "F51.0"], "wikidata": ["Q7539766"]}
|
Pesticide toxicity
A sign warning about potential pesticide exposure.
SpecialtyEmergency medicine, toxicology
Health effects of pesticides may be acute or delayed in those who are exposed.[1] A 2007 systematic review found that "most studies on non-Hodgkin lymphoma and leukemia showed positive associations with pesticide exposure" and thus concluded that cosmetic use of pesticides should be decreased.[2] Strong evidence also exists for other negative outcomes from pesticide exposure including neurological problems, birth defects, fetal death,[3] and neurodevelopmental disorder.[4]
According to The Stockholm Convention on Persistent Organic Pollutants (2001), 9 of the 12 most dangerous and persistent chemicals were pesticides,[5][6] so many have now been withdrawn from use.
## Contents
* 1 Acute effects
* 2 Long-term effects
* 2.1 Cancer
* 2.2 Neurological
* 2.3 Reproductive effects
* 2.3.1 Fertility
* 2.4 Other
* 3 Route of exposure
* 4 Prevention
* 5 Epidemiology
* 6 Research conflicts of interest
* 7 Other animals
* 8 See also
* 9 References
* 10 External links
## Acute effects[edit]
Main article: Pesticide poisoning
Acute health problems may occur in workers that handle pesticides, such as abdominal pain, dizziness, headaches, nausea, vomiting, as well as skin and eye problems.[7] In China, an estimated half-million people are poisoned by pesticides each year, 500 of whom die.[8] Pyrethrins, insecticides commonly used in common bug killers, can cause a potentially deadly condition if breathed in.[9]
## Long-term effects[edit]
### Cancer[edit]
Many studies have examined the effects of pesticide exposure on the risk of cancer. Associations have been found with: leukemia, lymphoma, brain, kidney, breast, prostate, pancreas, liver, lung, and skin cancers.[6] This increased risk occurs with both residential and occupational exposures.[6] Increased rates of cancer have been found among farm workers who apply these chemicals.[10] A mother's occupational exposure to pesticides during pregnancy is associated with an increases in her child's risk of leukemia, Wilms' tumor, and brain cancer.[6][11] Exposure to insecticides within the home and herbicides outside is associated with blood cancers in children.[12]
### Neurological[edit]
Evidence links pesticide exposure to worsened neurological outcomes.[3][vague]
The United States Environmental Protection Agency finished a 10-year review of the organophosphate pesticides following the 1996 Food Quality Protection Act, but did little to account for developmental neurotoxic effects, drawing strong criticism from within the agency and from outside researchers.[13][14] Comparable studies have not been done with newer pesticides that are replacing organophosphates.[15]
### Reproductive effects[edit]
Strong evidence links pesticide exposure to birth defects, fetal death and altered fetal growth.[3] Agent Orange, a 50:50 mixture of 2,4,5-T and 2,4-D, has been associated with bad health and genetic effects in Malaya and Vietnam.[16][17] It was also found that offspring that were at some point exposed to pesticides had a low birth weight and had developmental defects.[18]
#### Fertility[edit]
A number of pesticides including dibromochlorophane and 2,4-D has been associated with impaired fertility in males.[19] Pesticide exposure resulted in reduced fertility in males, genetic alterations in sperm, a reduced number of sperm, damage to germinal epithelium and altered hormone function.[20]
### Other[edit]
Some studies have found increased risks of dermatitis in those exposed.[3]
Additionally, studies have indicated that pesticide exposure is associated with long-term respiratory problems.[21] Summaries of peer-reviewed research have examined the link between pesticide exposure and neurologic outcomes and cancer, perhaps the two most significant things resulting in organophosphate-exposed workers.[22][23]
According to researchers from the National Institutes of Health (NIH), licensed pesticide applicators who used chlorinated pesticides on more than 100 days in their lifetime were at greater risk of diabetes. One study found that associations between specific pesticides and incident diabetes ranged from a 20 percent to a 200 percent increase in risk. New cases of diabetes were reported by 3.4 percent of those in the lowest pesticide use category compared with 4.6 percent of those in the highest category. Risks were greater when users of specific pesticides were compared with applicators who never applied that chemical.[24][25]
## Route of exposure[edit]
People can be exposed to pesticides by a number of different routes including: occupation, in the home, at school and in their food.
There are concerns that pesticides used to control pests on food crops are dangerous to people who consume those foods. These concerns are one reason for the organic food movement. Many food crops, including fruits and vegetables, contain pesticide residues after being washed or peeled. Chemicals that are no longer used but that are resistant to breakdown for long periods may remain in soil and water and thus in food.[26]
The United Nations Codex Alimentarius Commission has recommended international standards for maximum residue limits (MRLs), for individual pesticides in food.[27]
In the EU, MRLs are set by DG-SANCO[dead link].
In the United States, levels of residues that remain on foods are limited to tolerance levels that are established by the U.S. Environmental Protection Agency and are considered safe.[28] The EPA sets the tolerances based on the toxicity of the pesticide and its breakdown products, the amount and frequency of pesticide application, and how much of the pesticide (i.e., the residue) remains in or on food by the time it is marketed and prepared.[29] Tolerance levels are obtained using scientific risk assessments that pesticide manufacturers are required to produce by conducting toxicological studies, exposure modeling and residue studies before a particular pesticide can be registered, however, the effects are tested for single pesticides, and there is little information on possible synergistic effects of exposure to multiple pesticide traces in the air, food and water.[30]
Strawberries and tomatoes are the two crops with the most intensive use of soil fumigants. They are particularly vulnerable to several types of diseases, insects, mites, and parasitic worms. In 2003, in California alone, 3.7 million pounds (1,700 metric tons) of metham sodium were used on tomatoes. In recent years other farmers have demonstrated that it is possible to produce strawberries and tomatoes without the use of harmful chemicals and in a cost-effective way.[31]
Exposure routes other than consuming food that contains residues, in particular pesticide drift, are potentially significant to the general public.[32]
Some pesticides can remain in the environment for prolonged periods of time. For example, most people in the United States still have detectable levels of DDT in their bodies even though it was banned in the US in 1972.[6]
## Prevention[edit]
Pesticides exposure cannot be studied in placebo controlled trials as this would be unethical.[3] A definitive cause effect relationship therefore cannot be established.[3] Consistent evidence can and has been gathered through other study designs.[3] The precautionary principle is thus frequently used in environmental law such that absolute proof is not required before efforts to decrease exposure to potential toxins are enacted.[33]
The American Medical Association recommend limiting exposure to pesticides.[34] They came to this conclusion due to the fact that surveillance systems currently in place are inadequate to determine problems related to exposure.[34] The utility of applicator certification and public notification programs are also of unknown value in their ability to prevent adverse outcomes.[34]
## Epidemiology[edit]
The World Health Organization and the UN Environment Programme estimate that each year, 3 million workers in agriculture in the developing world experience severe poisoning from pesticides, about 18,000 of whom die.[35] According to one study, as many as 25 million workers in developing countries may suffer mild pesticide poisoning yearly.[36] Detectable levels of 50 different pesticides were found in the blood of a representative sample of the U.S. population.[6]
## Research conflicts of interest[edit]
Concerns regarding conflict of interests regarding the research base have been raised. After his death Richard Doll of the Imperial Cancer Research Fund in England was found to have undisclosed ties to industry funding.[37][38]
## Other animals[edit]
See also: Pesticide toxicity to bees
A number of pesticides including the neonicotinoids clothianidin, dinotefuran, imidacloprid are toxic to bees.[39] Exposure to pesticides may be one of the contributory factors to colony collapse disorder.[40] A study in North Carolina indicated that more than 30 percent of the quail tested were made sick by one aerial insecticide application. Once sick, wild birds may neglect their young, abandon their nests, and become more susceptible to predators or disease.[41]
## See also[edit]
* Environmental effects of pesticides
* Chlorpyrifos#Toxicity and safety
## References[edit]
1. ^ U.S. Environmental Protection Agency (August 30, 2007), Pesticides: Health and Safety. National Assessment of the Worker Protection Workshop #3.
2. ^ Bassil KL, Vakil C, Sanborn M, Cole DC, Kaur JS, Kerr KJ (October 2007). "Cancer health effects of pesticides: systematic review". Can Fam Physician. 53 (10): 1704–11. PMC 2231435. PMID 17934034.
3. ^ a b c d e f g Sanborn M, Kerr KJ, Sanin LH, Cole DC, Bassil KL, Vakil C (October 2007). "Non-cancer health effects of pesticides: systematic review and implications for family doctors". Can Fam Physician. 53 (10): 1712–20. PMC 2231436. PMID 17934035.
4. ^ Jurewicz J, Hanke W (2008). "Prenatal and childhood exposure to pesticides and neurobehavioral development: review of epidemiological studies". International Journal of Occupational Medicine and Environmental Health. 21 (2): 121–32. doi:10.2478/v10001-008-0014-z. PMID 18614459.
5. ^ "What are POPs?". Pops.int. Archived from the original on 2014-04-16. Retrieved 2014-02-04.
6. ^ a b c d e f Gilden RC, Huffling K, Sattler B (2010). "Pesticides and health risks". J Obstet Gynecol Neonatal Nurs (Review). 39 (1): 103–10. doi:10.1111/j.1552-6909.2009.01092.x. PMID 20409108.
7. ^ Ecobichon DJ. 1996. Toxic effects of pesticides. In: Casarett and Doull's Toxicology: The Basic Science of Poisons (Klaassen CD, Doull J, eds). 5th ed. New York:MacMillan, 643–689.
8. ^ Lawrence, Dune (February 13, 2007), Chinese develop taste for organic food: Higher cost no barrier to safer eating. Bloomberg News, International Herald Tribune Retrieved on 2007-10-25.
9. ^ Medline Plus (May 17, 2006), Medical Encyclopedia: Insecticide. Retrieved on September 15, 2007.
10. ^ McCauley LA, Anger WK, Keifer M, Langley R, Robson MG, Rohlman D (2006). "Studying health outcomes in farmworker populations exposed to pesticides". Environmental Health Perspectives. 114 (3): 953–960. doi:10.1289/ehp.8526. PMC 1480483. PMID 16760000. Archived from the original on 2007-09-27. Retrieved 2007-09-15.
11. ^ Van Maele-Fabry G, Lantin AC, Hoet P, Lison D (June 2010). "Childhood leukaemia and parental occupational exposure to pesticides: a systematic review and meta-analysis". Cancer Causes Control. 21 (6): 787–809. doi:10.1007/s10552-010-9516-7. PMID 20467891.
12. ^ Chen, M; Chang, CH; Tao, L; Lu, C (October 2015). "Residential Exposure to Pesticide During Childhood and Childhood Cancers: A Meta-Analysis". Pediatrics. 136 (4): 719–29. doi:10.1542/peds.2015-0006. PMID 26371195.
13. ^ Phillips ML (2006). "Registering skepticism: does the EPA's pesticide review protect children?". Environmental Health Perspectives. 114 (10): A592–A595. doi:10.1289/ehp.114-a592. PMC 1626397. PMID 17035127.
14. ^ Pulaski A (May 26, 2006), EPA workers blast agency's rulings on deadly pesticides: Letter sent to EPA administrator Stephen L. Johnson by unions representing 9,000 EPA scientists Archived 2006-10-05 at the Wayback Machine. The Oregonian, Mindfully.org Retrieved on 2007-10-10.
15. ^ Mascarelli, A. (2013). "Growing Up with Pesticides". Science. 341 (6147): 740–741. doi:10.1126/science.341.6147.740. PMID 23950529.
16. ^ Ngo AD, Taylor R, Roberts CL, Nguyen TV (October 2006). "Association between Agent Orange and birth defects: systematic review and meta-analysis". Int J Epidemiol. 35 (5): 1220–30. doi:10.1093/ije/dyl038. PMID 16543362.
17. ^ Ngo AD, Taylor R, Roberts CL (2010). "Paternal exposure to Agent Orange and spina bifida: a meta-analysis". Eur. J. Epidemiol. 25 (1): 37–44. doi:10.1007/s10654-009-9401-4. PMID 19894129.
18. ^ Bretveld RW, Thomas CG, Scheepers PJ, Zielhuis GA, Roeleveld N (2006). "Pesticide exposure: the hormonal function of the female reproductive system disrupted?". Reproductive Biology and Endocrinology. 4 (1): 30. doi:10.1186/1477-7827-4-30. ISSN 1477-7827. PMC 1524969. PMID 16737536.
19. ^ Sheiner EK, Sheiner E, Hammel RD, Potashnik G, Carel R (April 2003). "Effect of occupational exposures on male fertility: literature review". Ind Health. 41 (2): 55–62. doi:10.2486/indhealth.41.55. PMID 12725464.
20. ^ "Environmental Impacts on Reproductive Health: Pesticides".
21. ^ Doust, E; Ayres, JG; Devereux, G; Dick, F; Crawford, JO; Cowie, H; Dixon, K (June 2014). "Is pesticide exposure a cause of obstructive airways disease?". European Respiratory Review. 23 (132): 180–92. doi:10.1183/09059180.00005113. PMID 24881073.
22. ^ Alavanja MC, Hoppin JA, Kamel F (2004). "Health effects of chronic pesticide exposure: cancer and neurotoxicity". Annu Rev Public Health. 25: 155–97. doi:10.1146/annurev.publhealth.25.101802.123020. PMID 15015917.
23. ^ Kamel F, Hoppin JA (June 2004). "Association of pesticide exposure with neurologic dysfunction and disease". Environ. Health Perspect. 112 (9): 950–8. doi:10.1289/ehp.7135. PMC 1247187. PMID 15198914.
24. ^ Montgomery MP, Kamel F, Saldana TM, Alavanja MC, Sandler DP (May 2008). "Incident diabetes and pesticide exposure among licensed pesticide applicators: Agricultural Health Study, 1993–2003". Am J Epidemiol. 167 (10): 235–46. doi:10.1093/aje/kwn028. PMC 2832308. PMID 18343878.
25. ^ Newswise: Long-term Pesticide Exposure May Increase Risk of Diabetes Retrieved on June 4, 2008.
26. ^ Cornell University, College of Veterinary Medicine (March 1999), Consumer concerns about pesticides in food. Fact Sheet #24. Retrieved on 2007-10-25.
27. ^ Codex Alimentarius Commission Code of Ethics for International Trade in Food. CAC/RCP 20-1979 (Rev. 1-1985). Retrieved on 2007-10-25.
28. ^ U.S. Environmental Protection Agency (March 27, 2007), Pesticides and food: What the pesticide residue limits are on food. epa.gov. Retrieved on September 15, 2007.
29. ^ U.S. Environmental Protection Agency (July 24, 2007), Setting tolerances for pesticide residues in foods. epa.gov. Retrieved on September 15, 2007.
30. ^ Rabideau, Christine L. Multiple pesticide exposure: Immunotoxicty and oxidative stress 2001
31. ^ Levine, Marvin J. (2007). Pesticides: A Toxic Time Bomb in our Midst. Praeger Publishers. pp. 213–214. ISBN 978-0-275-99127-2.
32. ^ U.S. Environmental Protection Agency (December 1999), Spray drift of pesticides. Retrieved on September 15, 2007.
33. ^ Lockwood AH (December 2000). "Pesticides and parkinsonism: is there an etiological link?". Curr. Opin. Neurol. 13 (6): 687–90. doi:10.1097/00019052-200012000-00013. PMID 11148671.
34. ^ a b c "Educational and informational strategies to reduce pesticide risks. Council on Scientific Affairs". Prev Med. 26 (2): 191–200. 1997. doi:10.1006/pmed.1996.0122. PMID 9085387.
35. ^ Miller GT (2004), Sustaining the Earth, 6th edition. Thompson Learning, Inc. Pacific Grove, California. Chapter 9, Pages 211-216.
36. ^ Jeyaratnam J (1990). "Acute pesticide poisoning: a major global health problem". World Health Stat Q. 43 (3): 139–44. PMID 2238694.
37. ^ Hardell L, Walker MJ, Walhjalt B, Friedman LS, Richter ED (March 2007). "Secret ties to industry and conflicting interests in cancer research". Am. J. Ind. Med. 50 (3): 227–33. doi:10.1002/ajim.20357. PMID 17086516.
38. ^ Boseley, Sarah (8 December 2006). "Renowned cancer scientist was paid by chemical firm for 20 years". theguardian.com. Retrieved 21 January 2018.
39. ^ Decourtye A, Devillers J (2010). Ecotoxicity of neonicotinoid insecticides to bees. Adv. Exp. Med. Biol. Advances in Experimental Medicine and Biology. 683. pp. 85–95. doi:10.1007/978-1-4419-6445-8_8. ISBN 978-1-4419-6444-1. PMID 20737791.
40. ^ Myrna E. Watanabe (May 2008). "Colony Collapse Disorder: Many Suspects, No Smoking Gun". BioScience. 58 (5): 384–388. doi:10.1641/B580503.
41. ^ "Wildlife & Pesticides - Corn".
## External links[edit]
Classification
D
* ICD-10: T60
* ICD-9-CM: 989.4
External resources
* MedlinePlus: 002430
* eMedicine: article/815051
* Roberts, James R.; Reigart, J. Routt (2013). Recognition and Management of Pesticide Poisonings (6th ed.). Washington DC: Office of Pesticide Programs, U.S. Environmental Protection Agency. Full text of the book is available from the EPA website (15 Mb).
* v
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Pesticides
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* Health effects
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Food
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* Caffeine
* Natural phenols and polyphenols (including tannins)
Other
* Cannabis
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* Pesticide exposure
* Sun exposure
* Tobacco
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Health effects of pesticides
|
None
| 7,929 |
wikipedia
|
https://en.wikipedia.org/wiki/Health_effects_of_pesticides
| 2021-01-18T19:02:12 |
{"wikidata": ["Q10302339"]}
|
A number sign (#) is used with this entry because of evidence that bifid nose with or without anorectal and renal anomalies (BNAR) is caused by homozygous mutation in the FREM1 gene (608944) on chromosome 9p22.
Mutation in FREM1 can also cause Manitoba oculotrichoanal (MOTA; 248450) syndrome.
Clinical Features
Al-Gazali et al. (2002) reported a consanguineous Egyptian Arab family in which 4 sibs had bifid nose associated with renal and anorectal malformations. All had median nose clefts, wide bulbous nasal tip, short philtrum, but no hypertelorism. All had renal agenesis, which was unilateral in 3 and bilateral in 1. One of the children, born at 28 weeks' gestation, died during the first hour of life. The other 3 children had anorectal malformations ranging form anteriorly placed anus with stenosis to rectal atresia associated with rectovaginal fistula. The 3 also had hoarse, low-pitched cry, short and thick oral frenula, overlapping toes, and normal development. The authors suggested autosomal recessive inheritance.
Alazami et al. (2009) reported 2 consanguineous families of Afghan and Pakistani origin, with a similar phenotype but more variable renal involvement: all 5 affected individuals had a bifid nose, but only 1 of 3 affected members of the Afghan family and 1 of 2 affected members of the Pakistani family had renal agenesis. None of the 5 had anorectal malformations.
### Clinical Variability
Slavotinek et al. (2011) noted that eye defects occurred consistently in patients with MOTA syndrome but had not been reported in BNAR patients, and that conversely, renal agenesis appeared to be characteristic of BNAR but had not been observed in MOTA syndrome. Slavotinek et al. (2011) stated, however, that although these findings enabled distinction between BNAR and MOTA in some patients, others exhibited more clinical overlap and could be diagnosed with either syndrome.
Mapping
Alazami et al. (2009) performed genomewide multipoint parametric linkage analysis in 3 consanguineous families with BNAR, 1 of which had been previously reported by Al-Gazali et al. (2002), and obtained a maximum lod score of 6.62 between SNP markers rs10124106 and rs10963391, a 4.4-Mb interval on chromosome 9p23-p22.2 encompassing 28 annotated genes.
Molecular Genetics
In affected members of 3 consanguineous families with bifid nose with or without anorectal and renal anomalies mapping to chromosome 9p23-p22.2, including the Egyptian Arab family originally reported by Al-Gazali et al. (2002), Alazami et al. (2009) sequenced the candidate gene FREM1 (608944) and identified homozygosity for a 1-bp deletion and 2 missense mutations, respectively (608944.0001-608944.0003). The authors noted that FREM1 is part of a ternary complex that includes 2 other extracellular matrix proteins, FRAS1 (607830) and FREM2 (608945), mutations in either of which result in Fraser syndrome (219000), a recessive condition involving cryptophthalmos, syndactyly, abnormal genitalia, and/or renal agenesis. None of the 9 patients with mutation in FREM1 displayed cryptophthalmos, syndactyly, or abnormal genitalia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
|
c2750433
| 7,930 |
omim
|
https://www.omim.org/entry/608980
| 2019-09-22T16:06:52 |
{"mesh": ["C567672"], "omim": ["608980"], "orphanet": ["217266"], "genereviews": ["NBK1728"]}
|
Short bowel syndrome
Other namesShort gut syndrome, short gut, intestinal failure
A piece of diseased ileum following removal by surgery.
SpecialtyGastroenterology
SymptomsDiarrhea, dehydration, malnutrition, weight loss[1]
ComplicationsAnemia, kidney stones[2]
CausesSurgical removal of a large portion of the small intestine[1]
Risk factorsCrohn's disease, necrotising enterocolitis[2]
TreatmentSpecific diet, medications, surgery[1]
MedicationAntibiotics, antacids, loperamide, teduglutide, growth hormone[1]
PrognosisDepends on amount of small bowel remaining[2]
Frequency3 per million per year[1]
Short bowel syndrome (SBS, or simply short gut) is a malabsorption disorder caused by a lack of functional small intestine.[3] The primary symptom is diarrhea, which can result in dehydration, malnutrition, and weight loss.[1] Other symptoms may include bloating, heartburn, feeling tired, lactose intolerance, and foul-smelling stool.[1] Complications can include anemia and kidney stones.[2]
Most cases are due to the surgical removal of a large portion of the small intestine.[1] This is most often required due to Crohn's disease in adults and necrotising enterocolitis in young children.[2] Other causes include damage to the small intestine from other means and being born with an abnormally short intestine.[1] It usually does not develop until less than 2 m (6.6 ft) of the normally 6.1 m (20 ft) small intestine remains.[3][1]
Treatment may include a specific diet, medications, or surgery.[1] The diet may include slightly salty and slightly sweet liquids, vitamin and mineral supplements, small frequent meals, and the avoidance of high fat food.[1] Occasionally nutrients need to be given through an intravenous line, known as parenteral nutrition.[1] Medications used may include antibiotics, antacids, loperamide, teduglutide, and growth hormone.[1] Different types of surgery, including an intestinal transplant, may help some people.[1]
Short bowel syndrome newly occurs in about three per million people each year.[1] There are estimated to be about 15,000 people with the condition in the United States.[2] It is classified as a rare disease by the European Medicines Agency.[4] Outcomes depend on the amount of bowel remaining and whether or not the small bowel remains connected with the large bowel.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 4.1 Definition
* 5 Treatments
* 6 Prognosis
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
The symptoms of short bowel syndrome can include:
* Abdominal pain
* Diarrhea and steatorrhea (oily, bulky stool, which can be malodorous)
* Fluid depletion
* Weight loss and malnutrition
* Fatigue
Persons with short bowel syndrome may have complications caused by malabsorption of vitamins and minerals, such as deficiencies in vitamins A, D, E, K, B9 (folic acid), and B12, calcium, magnesium, iron, and zinc. These may appear as anemia, hyperkeratosis (scaling of the skin), easy bruising, muscle spasms, poor blood clotting, and bone pain.
## Causes[edit]
Short bowel syndrome in adults and children is usually caused by surgery. This surgery may be done for:
* Crohn's disease, an inflammatory disorder of the digestive tract
* Volvulus, a twisting of the small intestine often caused by intestinal malrotation that quickly cuts off blood supply and leads to tissue death
* Tumors of the small intestine
* Injury or trauma to the small intestine
* Necrotizing enterocolitis (premature newborn)
* Bypass surgery to treat obesity
* Surgery to remove diseases or damaged portion of the small intestine
Some children are also born with an abnormally short small intestine, known as congenital short bowel.[1]
## Pathophysiology[edit]
The length of the small intestine can vary greatly, from as short as 2.75 m (9.0 ft) to as long as 10.49 m (34.4 ft).[5] On average it is about 6.1 m (20 ft).[1] Due to this variation it is recommended that following surgery the amount of bowel remaining be specified rather than the amount removed.[5]
Short bowel syndrome usually develops when there is less than 2 meters (6.6 feet) of the small intestine left to absorb sufficient nutrients.
In a process called intestinal adaptation, physiological changes to the remaining portion of the small intestine occur to increase its absorptive capacity. These changes include:
* Enlargement and lengthening of the villi found in the lining
* Increase in the diameter of the small intestine
* Slow down in peristalsis or movement of food through the small intestine
## Diagnosis[edit]
### Definition[edit]
Intestinal failure is decreased intestinal function such that nutrients, water, and electrolytes are not sufficiently absorbed. Short bowel syndrome is when there is less than 2 m (6.6 ft) of working bowel and is the most common cause of intestinal failure.[3]
## Treatments[edit]
Symptoms of short bowel syndrome are usually addressed with medication. These include:
* Anti-diarrheal medicine (e.g. loperamide, codeine)
* Vitamin, mineral supplements and L-glutamine powder mixed with water
* H2 blocker and proton pump inhibitors to reduce stomach acid
* Lactase supplement (to improve the bloating and diarrhea associated with lactose intolerance)
In 2004, the USFDA approved a therapy that reduces the frequency and volume of total parenteral nutrition (TPN), comprising: NutreStore (oral solution of glutamine) and Zorbtive (growth hormone, of recombinant DNA origin, for injection) together with a specialized oral diet.[6] In 2012, an advisory panel to the USFDA voted unanimously to approve for treatment of SBS the agent teduglutide, a glucagon-like peptide-2 analog developed by NPS Pharmaceuticals, who intend to market the agent in the United States under the brandname Gattex.[7] Teduglutide had been previously approved for use in Europe and is marketed under the brand Revestive by Nycomed.[7]
Surgical procedures to lengthen dilated bowel include the Bianchi procedure, where the bowel is cut in half and one end is sewn to the other, and a newer procedure called serial transverse enteroplasty (STEP), where the bowel is cut and stapled in a zigzag pattern. Heung Bae Kim, MD, and Tom Jaksic, MD, both of Children's Hospital Boston, devised the STEP procedure in the early 2000s. The procedure lengthens the bowel of children with SBS and may allow children to avoid the need for intestinal transplantation. As of June 2009, Kim and Jaksic have performed 18 STEP procedures.[8] The Bianchi and STEP procedures are usually performed by pediatric surgeons at quaternary hospitals who specialize in small bowel surgery.
## Prognosis[edit]
There is no cure for short bowel syndrome except transplant. In newborn infants, the 4-year survival rate on parenteral nutrition is approximately 70%. In newborn infants with less than 10% of expected intestinal length, 5 year survival is approximately 20%.[9] Some studies suggest that much of the mortality is due to a complication of the total parenteral nutrition (TPN), especially chronic liver disease.[10] Much hope is vested in Omegaven, a type of lipid TPN feed, in which recent case reports suggest the risk of liver disease is much lower.[11]
Although promising, small intestine transplant has a mixed success rate, with postoperative mortality rate of up to 30%. One-year and 4-year survival rate are 90% and 60%, respectively.
## See also[edit]
* Bowel-associated dermatosis–arthritis syndrome, another syndrome that can result from small-bowel bypass (or other causes)
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r "Short Bowel Syndrome". NIDDK. July 2015. Archived from the original on 20 October 2016. Retrieved 20 October 2016.
2. ^ a b c d e f g Ferri, Fred F. (2014). Ferri's Clinical Advisor 2015: 5 Books in 1. Elsevier Health Sciences. p. 1074. ISBN 9780323084307. Archived from the original on 2016-10-21.
3. ^ a b c Pironi, L (April 2016). "Definitions of intestinal failure and the short bowel syndrome". Best Practice & Research. Clinical Gastroenterology. 30 (2): 173–85. doi:10.1016/j.bpg.2016.02.011. PMID 27086884.
4. ^ "Short bowel syndrome", orphanet, February 2012, archived from the original on March 4, 2016, retrieved November 16, 2012
5. ^ a b DiBaise, John K.; Parrish, Carol Rees; Thompson, Jon S. (2016). Short Bowel Syndrome: Practical Approach to Management. CRC Press. p. 31. ISBN 9781498720809. Archived from the original on 2016-10-20.
6. ^ Byrne, Theresa A.; Wilmore, Douglas W.; et al. (November 2005), "Growth Hormone, Glutamine, and an Optimal Diet Reduces Parenteral Nutrition in Patients With Short Bowel Syndrome: A Prospective, Randomized, Placebo-Controlled, Double-Blind Clinical Trial", Ann. Surg., 242 (5): 655–661, doi:10.1097/01.sla.0000186479.53295.14, PMC 1409868, PMID 16244538
7. ^ a b Debra Sherman (October 16, 2012). Leslie Adler; Matthew Lewis (eds.). "FDA advisers back NPS's drug for short bowel syndrome". Reuters. Archived from the original on November 11, 2012. Retrieved November 16, 2012.
8. ^ Innovation at Work: The STEP Procedure, Boston Children's Hospital, Center for Advanced Intestinal Rehabilitation, archived from the original on May 19, 2011, retrieved June 17, 2010
9. ^ Spencer AU, Neaga A, West B, et al. (September 2005). "Pediatric short bowel syndrome: redefining predictors of success". Ann. Surg. 242 (3): 403–9, discussion 409–12. doi:10.1097/01.sla.0000179647.24046.03. PMC 1357748. PMID 16135926. (mean follow-up time was 5.1 years)
10. ^ Vanderhoof JA, Langnas AN (1997). "Short-bowel syndrome in children and adults". Gastroenterology. 113 (5): 1767–78. doi:10.1053/gast.1997.v113.pm9352883. PMID 9352883.
11. ^ Gura KM, Duggan CP, Collier SB, et al. (2006). "Reversal of parenteral nutrition-associated liver disease in two infants with short bowel syndrome using parenteral fish oil: implications for future management". Pediatrics. 118 (1): e197–201. doi:10.1542/peds.2005-2662. PMID 16818533. S2CID 46567040.
## External links[edit]
Classification
D
* ICD-10: K91.2
* ICD-9-CM: 579.3
* MeSH: D012778
* DiseasesDB: 12026
External resources
* MedlinePlus: 000237
* eMedicine: med/2746 ped/2088
* Short bowel syndrome at Curlie
* National Digestive Diseases Information Clearinghouse - Short Bowel Syndrome
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
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* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Short bowel syndrome
|
c0036992
| 7,931 |
wikipedia
|
https://en.wikipedia.org/wiki/Short_bowel_syndrome
| 2021-01-18T19:03:31 |
{"gard": ["1502"], "mesh": ["D012778"], "umls": ["C0036992"], "icd-9": ["579.3"], "icd-10": ["K91.8"], "orphanet": ["104008"], "wikidata": ["Q662272"]}
|
X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that occurs almost exclusively in males. People with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells. The symptoms associated with XLP vary from person to person, and even among family members. In most cases, symptoms begin anywhere from 6 months of age to 10 years of age. XLP generally has two subtypes, which are caused by mutations in different genes:
* XLP1 is mainly characterized by an inappropriate immune response to Epstein-Barr virus (EBV) infection, leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis; dysgammaglobulinemia; and lymphoproliferative disease (malignant lymphoma).
* XLP2 is usually characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease (colitis). People with XLP2 have not been known to develop lymphoma.
Signs and symptoms of HLH include fever, enlarged lymph nodes and spleen, skin rashes, and problems with the lungs, digestive system, liver, and nervous system. The heart, kidneys, or other organs may also be affected. Mononucleosis may cause fatigue; fever; an inflamed and sore throat; enlarged lymph nodes, liver, and spleen; and symptoms of anemia. Dysgammaglobulinemia causes an increased risk of recurrent infections.
XLP1 is caused by mutations in the SH2D1A gene, and XLP2 is caused by mutations in the XIAP gene. Inheritance is X-linked recessive. However, in rare cases, females with a mutation on one copy of the responsible gene develop symptoms of XLP. A diagnosis of either type of XLP can be confirmed with genetic testing. Of note, there have been males with mutations known to cause XLP that have not developed symptoms.
The only cure for XLP is allogeneic hematopoietic cell transplantation, which should be considered as early as possible. Treatment of XLP-related HLH may include immunosuppressive agents (such as steroids and etoposide or anti-thymocyte globulin), and rituximab when HLH is associated with EBV infection. Hypogammaglobulinemia is treated with IVIG replacement therapy, and lymphoma is treated with standard chemotherapy. Inflammatory bowel disease is treated with immunosuppression.
Without treatment, many people with XLP do not survive beyond childhood, usually due to HLH. The average age of death for males has been reported as 11 years (with a range of 2-69 years) for XLP1, and 16 years (with a range of 1-52 years) for XLP2.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
X-linked lymphoproliferative syndrome
|
c0549463
| 7,932 |
gard
|
https://rarediseases.info.nih.gov/diseases/10915/x-linked-lymphoproliferative-syndrome
| 2021-01-18T17:57:02 |
{"mesh": ["D008232"], "omim": ["308240", "300635"], "orphanet": ["2442"], "synonyms": ["XLP", "X-linked lymphoproliferative disease", "Lymphoproliferative disease, X-linked", "XLPD", "Duncan disease", "Epstein Barr virus infection, familial fatal", "EBV infection, severe, susceptibility to", "EBVS", "X-linked progressive combined variable immunodeficiency 5", "Purtilo syndrome"]}
|
## Summary
### Clinical characteristics.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).
### Diagnosis/testing.
The diagnosis of CM-AVM syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in EPHB4 or RASA1 identified by molecular genetic testing.
### Management.
Treatment of manifestations: For capillary malformations and telangiectases that are of cosmetic concern, referral to a dermatologist. For AVMs and AVFs, the risks and benefits of intervention (embolization vs surgery) must be considered, usually with input from a multidisciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For cardiac overload, referral to a cardiologist. For hemihyperplasia and/or leg-length discrepancy, referral to an orthopedist. Lymphangiography to evaluate for lymphatic malformations may be considered; compression stockings for those with evidence of lymphedema; epistaxis treatment includes humidification, nasal lubricants, referral to otolaryngologist, and complete blood count for evaluation of anemia.
Surveillance: Repeat imaging studies if clinical signs/symptoms of AVMs/AVFs become evident.
Evaluation of relatives at risk: Clarification of the genetic status of at-risk relatives is appropriate in order to allow early diagnosis and treatment of AVMs/AVFs to reduce/avoid secondary adverse outcomes.
### Genetic counseling.
CM-AVM syndrome is inherited in an autosomal dominant manner. For RASA1-CM-AVM syndrome, about 70% of affected individuals have an affected parent; about 30% have a de novo pathogenic variant. For EPHB4-CM-AVM syndrome, about 80% of affected individuals have an affected parent; about 20% have a de novo pathogenic variant. Each child of an individual with CM-AVM syndrome has a 50% chance of inheriting the pathogenic variant. Prenatal and preimplantation genetic testing are possible if the pathogenic variant has been identified in an affected family member.
## Diagnosis
Diagnostic criteria for capillary malformation-arteriovenous malformation (CM-AVM) syndrome have been proposed but not systematically evaluated [Orme et al 2013, Weitz et al 2015].
### Suggestive Findings
CM-AVM syndrome should be suspected in individuals who have any of the following:
* Capillary malformations (CMs), the hallmark of CM-AVM syndrome. CMs are generally:
* Multifocal, atypical pink-to-reddish brown, multiple, small (1-2 cm in diameter), round-to-oval lesions sometimes with a white halo;
* Composed of dilated capillaries in the papillary dermis [Hershkovitz et al 2008b];
* Mostly localized on the face and limbs;
* Seen in combination with arteriovenous malformations (AVMs) or arteriovenous fistulas (AVF), but may be the only finding [Hershkovitz et al 2008a, Revencu et al 2008, Revencu et al 2013b].
* AVMs/AVFs in soft tissue, bone, and brain that may be associated with overgrowth [Eerola et al 2003]
* Parkes Weber syndrome phenotype, a cutaneous capillary malformation associated with underlying multiple micro-AVFs and soft-tissue and skeletal hypertrophy of the affected limb [Mulliken & Young 1988]
### Establishing the Diagnosis
The diagnosis of a CM-AVM syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in EPHB4 or RASA1 identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted 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. Because the phenotype of CM-AVM syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with capillary malformations and/or AVMs are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of CM-AVM syndrome, molecular genetic testing approaches can include use of a multigene panel. A multigene panel that includes EPHB4, RASA1, and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
Note: (1) In RASA1-CM-AVM syndrome, ~30% of probands have a de novo pathogenic variant [Revencu et al 2008]; in EPHB4-CM-AVM syndrome, ~20% of affected individuals have a de novo pathogenic variant [Vivanti et al 2018, Wooderchak-Donahue et al 2019]; therefore, testing of parental samples for variants identified in a proband may be helpful for the interpretation of the variant. (2) Somatic mosaicism for a de novo EPHB4 pathogenic variant (identified in ~20% of blood cells) has been reported [Wooderchak-Donahue et al 2019]; therefore, detection of mosaicism should be considered in assay selection and development.
#### Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by capillary malformations and/or arteriovenous malformations, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is another option. Exome sequencing is most commonly used; genome sequencing is also possible.
If exome sequencing is not diagnostic – and particularly when evidence supports autosomal dominant inheritance – exome array (when clinically available) may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis.
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 Capillary Malformation-Arteriovenous Malformation (CM-AVM) Syndrome
View in own window
Gene 1, 2Proportion of CM-AVM Syndrome Attributed to Pathogenic Variants in GeneProportion of Probands with a Pathogenic Variant 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
EPHB4~10% 654/54 6Unknown 6
RASA1~50% 7~92% 7, 8~8% 7, 8
Unknown 8~40% 6NA
1\.
Genes are listed in alphabetic order.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
See Molecular Genetics for information on allelic variants detected in these genes.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
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\.
Amyere et al [2017] reported 54 index patients identified by sequence analysis.
7\.
Revencu et al [2008], Revencu et al [2013b]
8\.
Wooderchak-Donahue et al [2018]
## Clinical Characteristics
### Clinical Description
The clinical manifestations of RASA1-capillary malformation-arteriovenous malformation (RASA1-CM-AVM) syndrome have been described in many individuals with large cohorts by Eerola et al [2003] (n=39), Revencu et al [2008] (n=101), and Revencu et al [2013b] (n=138), with insights from a number of other case series and case reports [Hershkovitz et al 2008a, Hershkovitz et al 2008b, Thiex et al 2010, Carr et al 2011, Buhl et al 2012, de Wijn et al 2012, Wooderchak-Donahue et al 2012, Burrows et al 2013, Català et al 2013, Durrington et al 2013, Kim et al 2015, Maruani et al 2018, Wooderchak-Donahue et al 2018].
The clinical manifestations of EPHB4 capillary malformation-arteriovenous malformation (EPHB4-CM-AVM) syndrome have been described in two studies by Amyere et al [2017] (n=102), and Wooderchak-Donahue et al [2019] (n=10).
Significant intra- and interfamilial variability in the existence and location of vascular malformations has been described.
### Table 2.
Features of Capillary Malformation-Arteriovenous Malformation
View in own window
Feature% of Persons with Feature by Associated Gene
RASA1-CM-AVM 1EPHB4-CM-AVM 2
Capillary malformations~97%100%
Arteriovenous
malformations/
arteriovenous fistulas 3~24% includes:
* 13% extra-CNS
* 10% intra-CNS
~18% includes:
* Mostly AVM & extracranial
* 1% vein of Galen aneurysmal malformation
Parkes Weber syndrome8%8%
Bier spotsNone reported12%
Telangiectasias (upper
thorax, lips, or arms/legs)None reported~80% 2
EpistaxisNone reported~60% 2
1\.
Revencu et al [2013b]
2\.
An ascertainment bias exists for the two studies included. In the first large study individuals were ascertained for CM-AVM syndrome [Amyere et al 2017], and in the second small study for hereditary hemorrhagic telangiectasia [Wooderchak-Donahue et al 2019]. In this second group, epistaxis and telangiectasia ratio was higher than in the first study (epistaxis: 6/10 individuals; telangiectasia: 8/10 individuals; CM: 8/10 individuals).
3\.
Not all individuals with CM-AVM syndrome are likely to have had comprehensive imaging studies; therefore, the frequency of AVMs/AVFs is difficult to determine.
#### Capillary Malformations (CMs)
CMs are multiple round or oval pink lesions often with a blanched halo. CMs can be present at birth and tend to increase in number over time.
Arterial flow with Doppler ultrasound has been reported over the CMs [Kim et al 2015] and is hypothesized to be a manifestation of an underlying AVM. It is unclear if arterial flow abnormalities associated with the CMs can increase or develop over time.
#### Arteriovenous Malformations / Arteriovenous Fistulas (AVMs/AVFs)
Current data on long-term development of AVMs/AVFs after initial screening are insufficient. Although it has been hypothesized that AVMs/AVFs may develop over time [Orme et al 2013], to date no individuals who had normal imaging screens have subsequently been reported to have developed AVMs/AVFs.
Intracranial AVMs/AVFs can manifest early in life [Revencu et al 2008, Revencu et al 2013b]. Vein of Galen aneurysmal malformation and other intracranial AVMs have led to seizures, hydrocephalus, migraine headaches, and cardiac failure [Eerola et al 2003, Revencu et al 2008, Grillner et al 2016, Amyere et al 2017]. Vivanti et al [2018] reported on a series of 19 children with vein of Galen malformation; 10% had EPHB4 pathogenic variants.
Revencu et al [2008] reported that most of the intracranial lesions were macrofistulas causing symptoms in infancy. However, this finding may be biased given that the identification of the AVMs/AVFs may be secondary to associated symptoms and that asymptomatic individuals may not have had the imaging studies needed to detect the lesions.
Extracranial AVMs and AVFs are typically reported in skin, muscle, and spine.
Although approximately 50% of AVMs/AVFs have been reported to be in the head/neck region [Revencu et al 2013b], the frequency of AVMs/AVFs in this location may be an overestimate because it is likely that imaging is preferentially performed in this region.
Symptomatic intraspinal AVMs resulting in neurologic deficits have been reported; MRI has identified intraspinous lesions requiring endovascular/surgical treatment [Thiex et al 2010].
AVMs/AVFs have not been commonly reported in viscera [Revencu et al 2008], a distinguishing difference from hereditary hemorrhagic telangiectasia.
#### Parkes Weber Syndrome
Limb overgrowth has been reported in both the upper and lower extremities in individuals with CM-AVM syndrome. The overgrowth is typically noticeable in infancy and can range in severity. Most individuals with limb overgrowth fulfill the findings of Parkes Weber syndrome, defined by Revencu et al [2013b] as the presence of a capillary stain, bony and soft tissue hyperplasia, and multiple arteriolovenular microfistulas throughout an upper or lower extremity [Amyere et al 2017].
#### Other
Bier spots, white spots on the skin surrounded by a pale halo of erythema, have been described in individuals with EPHB4-CM-AVM syndrome [Amyere et al 2017, Wooderchak-Donahue et al 2019].
Telangiectasia has been reported primarily in individuals with EPHB4-CM-AVM syndrome. The telangiectases were typically located on the lips, trunks, and/or arms/legs [Amyere et al 2017, Wooderchak-Donahue et al 2019].
Epistaxis has been reported in individuals with EPHB4-CM-AVM syndrome [Amyere et al 2017, Wooderchak-Donahue et al 2019].
Cardiac overload/failure is a potential complication in individuals with significant fast-flow lesions.
In particular, one third of individuals with RASA1 Parkes Weber syndrome required cardiac follow up [Revencu et al 2008].
One infant with RASA1-CM-AVM syndrome had an AVF between the left carotid artery and jugular vein that caused cardiac overload requiring treatment [Eerola et al 2003].
One woman with RASA1-CM-AVM syndrome reported worsening of symptoms during pregnancy; she developed pulmonary and peripheral edema with concern for high-output heart failure that resolved after pregnancy [Durrington et al 2013].
Nonimmune hydrops fetalis due to an AVM has been reported in RASA1-CM-AVM syndrome [Overcash et al 2015].
Congenital heart defects have been reported in a few individuals with RASA1- and EPHB4-CM-AVM syndrome; however, this finding may be coincidental [Revencu et al 2008, Martin-Almedina et al 2016].
Lymphatic malformations have been reported in several individuals with EPHB4- and RASA1-CM-AVM syndrome [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016]. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles in the groin of individuals with RASA1-CM-AVM syndrome [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known. An EPHB4 pathogenic variant was identified in a four-generation pedigree with central conducting lymphatic anomaly [Li et al 2018]. Hydrops fetalis was reported in individuals from two families with EPHB4-CM-AVM syndrome [Martin-Almedina et al 2016].
Tumors. Individuals with RASA1-CM-AVM syndrome may be at increased risk for tumor development, but review of the reported cases does not confirm this: Revencu et al [2008] reported several different types of tumors (e.g., optic glioma, lipoma, superficial basal cell carcinoma, angiolipoma, non-small-cell lung cancer, and vestibular schwannoma) in 44 families; however, in their larger series of 138 individuals, the only tumors reported were two common basal cell carcinomas in two individuals from the same family [Revencu et al 2013b]. Whether the rate of tumors is increased compared to the general population is as yet unknown, but it is likely not dramatically increased.
Additional findings observed in a small number of individuals with RASA1-CM-AVM syndrome include seizures, headaches, hydrocephalus, neurogenic bladder, varicosities, and hemangiomas. It is not clear if these findings are primary manifestations of a germline heterozygous RASA1 pathogenic variant, secondary complications of AVMs/AVFs, or unrelated.
### Genotype-Phenotype Correlations
Studies to date are insufficient to identify genotype-phenotype correlations.
### Penetrance
EPHB4. Penetrance of EPHB4-CM-AVM syndrome was reported to be 93% (102 of 110 individuals) in one study by Amyere et al [2017].
RASA1. Penetrance is 90%-99% for RASA1-CM-AVM syndrome. Revencu et al [2008] determined that 55 of 57 individuals heterozygous for a germline RASA1 pathogenic variant were affected. Revencu et al [2013b] determined that 136 of 138 individuals heterozygous for a germline RASA1 pathogenic variant had multiple CMs.
### Nomenclature
Eerola et al [2003] named the phenotype caused by RASA1 pathogenic variants "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome. Later, Amyere et al [2017] named the phenotype caused by RASA1 pathogenic variants "capillary malformation-arteriovenous malformation 1" (CM-AVM1) and the phenotype caused by EPHB4 pathogenic variants "capillary malformation-arteriovenous malformation 2" (CM-AVM2).
### Prevalence
Prevalence of CM-AVM syndrome is estimated at 1:100,000 in northern Europeans [Revencu et al 2008]. Another estimate of prevalence using the Exome Aggregation Consortium dataset is around 1:20,000 (RASA1-CM-AVM syndrome) and 1:12,000 (EPHB4-CM-AVM syndrome) [Amyere et al 2017].
## Differential Diagnosis
### Table 3.
Other Genes of Interest in the Differential Diagnosis of Capillary Malformation-Arteriovenous Malformation (CV-AVM) Syndrome
View in own window
Gene(s)Differential Diagnosis DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/CV-AVM syndromeDistinguishing from CV-AVM syndrome
ACVRL 1
ENG 1
GDF2 1
SMAD4 1Hereditary hemorrhagic telangiectasiaADMultiple AVMs that lack intervening capillaries & result in direct connections between arteries & veins
* Spontaneous & recurrent nosebleeds (epistaxis) are more common.
* Telangiectases generally only on lips, nose, & hands
* ~25% may have GI bleeding later in life.
* Large capillary malformations are not typical.
GNAQSturge-Weber syndrome (SWS)
(OMIM 185300)See
footnote 2.Intracranial vascular anomaly 3Segmental facial cutaneous vascular malformations (port-wine stains), seizures, & glaucoma 4
PIK3CAKlippel-Trenaunay-Weber syndrome 5See
footnote 6.CMs & hypertrophy of the related bones & soft tissuesVascular malformations are typically low-flow lesions w/out high-flow AVMs. 7
PTENPTEN hamartoma tumor syndromes 8ADOvergrowth & fast-flow lesions
* Vascular anomalies are usually intramuscular, assoc w/ectopic fat, & severely disrupt tissue architecture. 9
* Tumor predisposition is more prominent.
TEKMultiple cutaneous and mucosal venous malformationsADCutaneous VMs can be mistaken for CMs.
* Small, multifocal bluish cutaneous &/or mucosal VMs, usually present at birth. New lesions appear w/time.
* Small lesions are usually asymptomatic; larger lesions can invade subcutaneous muscle & cause pain.
GLMNHereditary glomuvenous malformations (GVMs) (OMIM 138000)ADCutaneous VMs can be mistaken for CMs.
* Clinically GVM can look like any VM, but GVMs are more painful on palpation, only partially compressible, & usually not found in mucosa. 10
* Lesions consist of glomus cells.
* Familial aggregation is more common in hereditary GVM than in VMs generally.
AD = autosomal dominant; AVM = arteriovenous malformation; CM = capillary malformation; MOI = mode of inheritance; VM = venous malformation
1\.
The known hereditary hemorrhagic telangiectasia-related genes are involved in the TGF-β/BMP signaling cascade.
2\.
Somatic mosaic mutation of GNAQ has been reported in individuals with Sturge-Weber syndrome [Shirley et al 2013].
3\.
Leptomeningeal angiomatosis most often involves the occipital and posterior parietal lobes.
4\.
No RASA1 pathogenic variants were identified in nine persons with SWS who represented simplex cases (i.e., a single occurrence in a family) [Zhou et al 2011] or in 37 individuals with SWS [Revencu et al 2013b].
5\.
Also referred to as Klippel-Trenaunay syndrome (KTS)
6\.
Mosaic variants in PIK3CA have been reported in KTS [Vahidnezhad et al 2016].
7\.
Diagnostic criteria for KTS have been proposed [Oduber et al 2008]. To date no RASA1 pathogenic variants have been identified in individuals with typical Klippel-Trenaunay syndrome [Revencu et al 2013a].
8\.
PTEN hamartoma tumor syndromes include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-Proteus syndrome, and Proteus-like syndrome.
9\.
Caux et al [2007], Tan et al [2007]
10\.
Hereditary GVMs have a cobblestone appearance with a consistency harder than that of venous malformations. Histologically, glomuvenous malformations are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels [Brouillard et al 2002].
Hereditary benign telangiectasia (OMIM 187260). Some of the cutaneous AVMs in the autosomal dominant disorder hereditary benign telangiectasia (HBT) can be of similar size to those seen in CM-AVM syndrome. However, solid organ AVMs are not seen in HBT.
Deletion 5q14.3q15. Individuals with microdeletion of 5q14.3q15 including RASA1 and neighboring genes have been reported [Carr et al 2011, Zweier & Rauch 2012]. Findings included multifocal CMs and severe developmental delay associated with MEF2C haploinsufficiency. In their review of the findings in four other individuals previously reported with deletions of both RASA1 and MEF2C, Carr et al [2011] determined that CMs had not been reported, but the report by Zweier and Rauch [2012] showed images of a child with multiple round capillary malformations of variable sizes. The severe developmental delays are not thought to result from deletion of RASA1.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with capillary malformation-arteriovenous malformation (CM-AVM) syndrome, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Medical history and physical examination with a focus on symptoms and findings secondary to arteriovenous malformations/arteriovenous fistulas (AVMs/AVFs)
* Brain imaging – if not already performed – to identify AVMs/AVFs (e.g., vein of Galen aneurysms and other intracranial AVMs) to allow early identification of macrofistulas that can be treated prior to the development of symptoms [Revencu et al 2008]
* Consideration of spine imaging to identify and characterize AVMs/AVFs. Currently no consensus protocols for radiographic evaluation of individuals with CM-AVM syndrome have been developed; therefore, discussion with a radiologist is recommended in order to develop an appropriate plan for imaging based on the patient's age and the capabilities and experience of the imaging facility.
* Consideration of further imaging in individuals with evidence of cardiac overload, to look for causative AVMs/AVFs
* Evaluation for evidence of epistaxis (nosebleeds), and if present, referral to otolaryngologist as appropriate. If epistaxis is present, consider complete blood count for evaluation of anemia.
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
### Table 4.
Treatment of Manifestations in Individuals with CM-AVM Syndrome
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
CMs & telangiectasesReferral to dermatologistTo evaluate CMs of cosmetic concern & discuss risks & benefits of intervention
AVMs/AVFsMultidisciplinary team incl specialists in interventional radiology, neurosurgery, surgery, cardiology, & dermatology depending on location & symptoms
* To determine treatment (e.g., embolization vs surgery)
* Risks & benefits of intervention for AVMs & AVFs must be considered.
Cardiac overloadReferral to cardiologist
Hemihyperplasia &/or leg length discrepancyReferral to orthopedistConsider:
* Lymphangiography to evaluate for lymphatic malformations
* Compression stockings for those w/evidence of lymphedema
Epistaxis (nosebleeds)Humidification & nasal lubricants; referral to otolaryngologistIf epistaxis, perform complete blood count for eval of anemia.
### Surveillance
The clinician should have a low threshold to repeat imaging studies if clinical signs/symptoms of AVMs/AVFs become evident over time.
### Agents/Circumstances to Avoid
Although no agents/circumstances resulting in complications of CM-AVM syndrome have been reported, a theoretic consideration is avoidance of routine use of anticoagulants unless indicated for treatment of a different medical condition.
### Evaluation of Relatives at Risk
Clarification of the genetic status of at-risk relatives is appropriate in order to allow early diagnosis and treatment of AVMs/AVFs to reduce/avoid secondary adverse outcomes. In particular, at-risk infants are candidates for prompt diagnosis given the possible early presentation of neurologic complications from intracranial AVMs/AVFs [Revencu et al 2008].
Evaluations can include:
* Molecular genetic testing if the RASA1 or EPHB4 pathogenic variant in the family is known;
* Physical evaluation of the skin to look for capillary malformations if the pathogenic variant in the family is not known.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Capillary Malformation-Arteriovenous Malformation Syndrome
|
c1842180
| 7,933 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK52764/
| 2021-01-18T21:36:32 |
{"mesh": ["C564254"], "synonyms": ["CM-AVM Syndrome"]}
|
This article is about the disease in dogs. For the disease in humans, see Hip dysplasia. For the disease in other animals, see Hip dysplasia § Other animals.
Hip dysplasia in a Labrador Retriever
Normal hips, for comparison
In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe form, can eventually cause lameness and arthritis of the joints. It is a genetic (polygenic) trait that is affected by environmental factors. It is common in many dog breeds, particularly the larger breeds, and is the most common single cause of arthritis of the hips.[1]
During growth, both the ball (the head of the femur, or thighbone) and the socket in the pelvis (acetabulum) must grow at equal rates. In hip dysplasia, this uniform growth during puppyhood does not occur. The result is laxity of the joint, followed by degenerative joint disease (DJD) or osteoarthritis (OA), which is the body's attempt to stabilize the loose hip joint.[2]
## Contents
* 1 Overview
* 1.1 Normal hip anatomy
* 1.2 Dysplastic hip anatomy
* 1.3 Causes and effects
* 2 Clinical detection and testing
* 2.1 Symptoms
* 2.2 Diagnosis
* 2.2.1 Orthopedic Foundation for Animals (OFA)
* 2.2.2 PennHIP
* 2.2.3 British Veterinary Association (BVA)
* 2.3 Other conditions with similar symptoms
* 3 Treatment
* 3.1 Non-surgical interventions
* 3.1.1 Maintenance of minimal body weight
* 3.1.2 Exercise routine
* 3.1.3 Medication
* 3.1.4 Diet supplementation
* 3.1.5 Other interventions
* 3.2 Surgical interventions
* 4 See also
* 5 References
## Overview[edit]
### Normal hip anatomy[edit]
In the normal anatomy of the hip joint, the almost spherical end of the femur head (the caput, or caput ossis femoris) fits into the acetabulum (a concave socket located in the pelvis). The bony surfaces of the femur head and of the acetabulum are covered by cartilage. While bones provide the strength necessary to support body weight, cartilage ensures a smooth fit and a wide range of motion. Normal hip function can be affected by congenital conditions such as dysplasia, trauma, and by acquired diseases such as osteoarthritis and rheumatoid arthritis.
### Dysplastic hip anatomy[edit]
The hip could have major contractions from dysplasias. The caput is not deeply and tightly held by the acetabulum. Instead of being a snug fit, it is a loose fit, or a partial fit. Secondly, the caput or acetabulum are not smooth and round, but are misshapen, causing abnormal wear and tear or friction within the joint as it moves.[2] The body reacts to this in several ways. First, the joint is continually repairing itself and laying down new cartilage. However, cartilage repair is a relatively slow process, the tissue being avascular, so the joint may suffer degradation due to the abnormal wear and tear, or may not support the body weight as intended. The joint becomes inflamed and a cycle of cartilage damage, inflammation and pain commences. This is a self-fueling process, in that the more the joint becomes damaged, the more damage it will cause to the surrounding tissues and bones. The inflammation also causes further damage. The bones of the joint may also develop osteoarthritis, visible on a radiograph as small outcrops of bone, which further degrade the joint.[3] Osteoarthritis is a degenerative disease marked by the breakdown of cartilage between joints resulting in painful bone-to-bone contact.[4]
The underlying deformity of the joint may get worse over time, or may remain static. A dog may have good radiographs and yet be in pain, or may have very poor radiographs and have no apparent pain issues. The hip condition is only one factor to determine the extent to which dysplasia is causing pain or affecting the quality of life. In mild to moderate dysplasia it is often the secondary effects of abnormal wear and tear or arthritis, rather than dysplasia itself, which is the direct causes of visible problems.[5]
### Causes and effects[edit]
A Labrador Retriever standing with hind legs close together to compensate for hip dysplasia
Hip dysplasia may be caused by a femur that does not fit correctly into the pelvic socket, or poorly developed muscles in the pelvic area. Large and giant breeds are most susceptible to hip dysplasia (possibly due to the body mass index (BMI) of the individual animal),[6] though many other breeds can suffer from it. The Orthopedic Foundation for Animals maintains a list of top 100 breeds affected.[7]
To reduce pain, the animal will typically reduce its movement of that hip. This may be visible as "bunny hopping", where both legs move together, or less dynamic movement (running, jumping), or stiffness. Since the hip cannot move fully, the body compensates by adapting its use of the spine, often causing spinal, stifle (a dog's knee joint), or soft tissue problems to arise.
The causes of hip dysplasia are considered heritable, but new research conclusively suggests that environment also plays a role.[8] To what degree the causality is genetic and what portion environmental is a topic of current debate. Neutering a dog, especially before the dog has reached an age of full developmental maturity, has been shown to almost double the chance he or she will develop hip dysplasia versus intact dogs or dogs that were neutered after reaching adulthood. [9] Other environmental influences include overweight condition, injury at a young age, overexertion on the hip joint at a young age, ligament tear at a young age, or repetitive motion on forming joint (i.e. jogging with puppy under the age of 1 year). As current studies progress, greater information may help provide procedures to effectively reduce the occurrence of this condition.
It is most common in medium-large pure bred dogs, such as Newfoundlands, German Shepherd Dogs, retrievers (such as Labradors, Tollers, or Goldens), Rottweilers and Mastiffs, but also occurs in some smaller breeds such as spaniels and pugs.[10]
## Clinical detection and testing[edit]
### Symptoms[edit]
Atrophy of thigh muscle after a two-year evolution of hip dysplasia
Dogs with hip dysplasia may exhibit the following signs and symptoms:[5]
* Decreased activity
* Decreased range of motion
* Difficulty or reluctance rising, jumping, running, or climbing stairs
* Lameness in the hind end
* Looseness in the joint
* Narrow stance
* Swaying, “bunny hopping” gait
* Grating in the joint during movement
* Loss of thigh muscle mass
* Noticeable enlargement of the shoulder muscles as they compensate for the hind end
* Pain
* Stiffness or soreness after rising from rest
* Subluxation or dislocation of the hip joint
Affected dogs can show clinical signs as early as seven months of age, but most do not until one to two years of age.[2] In part this is because the underlying hip problem may be mild or severe, worsening or stable, and the body may be more or less able to keep the joint in repair well enough to cope.
### Diagnosis[edit]
Hip dysplasia is diagnosed with radiographs of the pelvis. There are several standardized systems for categorising dysplasia, set out by reputable bodies. The most widely used systems include the following:
#### Orthopedic Foundation for Animals (OFA)[edit]
Radiographs can be sent to OFA for grading and certification. This system rates a dog's hip joint on a seven-point scoring system. The test relies on interpretation of a radiograph of the dog's hips, which are then assigned a score by three independent radiologists: Excellent, Good, Fair, Borderline, Mild, Moderate and Severe.[11]
#### PennHIP[edit]
PennHIP requires the dog to be anesthetized. Three radiographs are taken to measure the hip joint laxity. A score between 0-1 is assigned, with 0 being very tight hips and 1 being very loose. The score is based on a measurement of the hip's distraction index (DI). The distraction index is an indication of the "percent out of joint" that the femoral head is displaced from the acetabulum. For example, a DI of 0.15 means that the head of the femur is 15% out of joint.[11]
#### British Veterinary Association (BVA)[edit]
Each hip joint is assessed by a BVA panel of experts that assign points based on nine aspects of the joint. The degree to which a dog is affected by hip dysplasia is represented by a score given to each hip. Scores for each hip are added together to get an overall hip score. Score ranges from zero to 106 (zero to 53 for each hip), with a score of zero representing the least degree of hip dysplasia and 53 representing the most.[12]
It is also common to X-ray the spine and legs, as well as the hips, since soft tissues can be affected by the extra strain of a dysplastic hip, or there may be other undetected factors such as neurological issues (e.g. nerve damage) involved.
### Other conditions with similar symptoms[edit]
The following conditions can give symptoms very similar to hip dysplasia, and should be ruled out during diagnosis:
* Cauda equina syndrome (i.e. lower back problems)
* Cranial (anterior) Cruciate ligament tears
* Other rear limb arthritic conditions[13]
* Osteochondritis dissecans and elbow dysplasia in the forelimbs are difficult to diagnose as the animal may only exhibit an unusual gait, and may be masked by, or misdiagnosed as, hip dysplasia.[14]
A dog may misuse its rear legs, or adapt its gait, to compensate for pain in the forelimbs, notably osteoarthritis, osteochondritis (OCD) or shoulder or elbow dysplasia, as well as pain in the hocks and stifles or spinal issues. It is important to rule out other joint and bodily issues before concluding that only hip dysplasia is present. Even if some hip dysplasia is present, it is possible for other conditions to co-exist or be masked by it.
## Treatment[edit]
There is no complete cure, although there are many options to alleviate the clinical signs. The aim of treatment is to enhance quality of life.
Most dogs with hip dysplasia do not need surgery as they do very well with a home physical therapy program, keeping trim and strong, and using pain medication as needed.[2]
If the problem cannot be controlled with medications, then often surgery is considered. There are traditionally two types of surgery - those which reshape the joint to reduce pain or help movement, and hip replacement which completely replaces the damaged hip with an artificial joint, similar to human hip replacements.
### Non-surgical interventions[edit]
Non surgical intervention is dependent on many factors including age, weight, degree of hip laxity, lifestyle of the owner and their tolerance for the cost incurred for medication and physical therapy.[2]
#### Maintenance of minimal body weight[edit]
Weight control is often "the single most important thing that we can do to help a dog with arthritis," and "reducing the dog's weight is enough to control all of the symptoms of arthritis in many dogs."[15] With weight control, the goal is to prevent the dog from becoming overweight to reduce mechanical stresses applied to the hip joints. In general terms, the ribs should be easily palpated and there should be an indentation in front of the hip bones.[5]
#### Exercise routine[edit]
Reasonable exercise stimulates cartilage growth and reduces degeneration,[15] and also regular walks taken in the early stages of dysplasia can help prevent loss of muscle mass to the hips. Exercise should fit an individual dog's maximum intensity level with the goal to maintain muscle tone and cardiovascular function without causing pain, stiffness, and inflammation to the joint. Exercise also improves joint range of motion which in turn keeps the dog more comfortable. Swimming, because it is a non-weight bearing exercise, can be a very useful means of maintaining muscle tone and range of motion without placing concussive forces on the joint, though do know that swimming is primarily a front-legged exercise.[5]
#### Medication[edit]
Medication can reduce pain and discomfort, and also reduce damaging inflammation.[15] Most often, medication consists of a non-steroidal anti-inflammatory drug (NSAID), which doubles as an anti-inflammatory and painkiller. Typical NSAIDs used for hip dysplasia include carprofen and meloxicam (often sold as Rimadyl and Metacam respectively).[16] Both are used to treat arthritis resulting from dysplasia, although other NSAIDs such as tepoxalin (Zubrin) and prednoleucotropin ("PLT", a combination of cinchophen and prednisolone) are sometimes prescribed.
#### Diet supplementation[edit]
Incorporating omega-3 fatty acids such as docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) into the diet can result in improved symptoms of the disease. Omega-3 fatty acids can help decrease inflammation that occurs from osteoarthritis, as well as improve the locomotion of dogs who have the disease. EPA and DHA can be supplemented into the diet through fish oils.
Glucosamine and chondroitin sulfate are nutraceuticals that can also be added into the diet to help treat osteoarthritis caused by hip dysplasia. Both nutraceuticals help with improvement of cartilage, joint health and repairing of tissues. A glucosamine-based nutritional supplement may give the body additional raw materials used in joint repair. Glucosamine can take 3–4 weeks to start showing its effects, so the trial period for medication is usually at least 3–5 weeks. In vitro, glucosamine has been shown to have negative effects on cartilage cells.[17]
Another nutrient that can help improve the structural support of the body is vitamin C. Vitamin C contributes to the building blocks of collagen that can help to strengthen the joints.
#### Other interventions[edit]
Canine massage may alleviate discomfort, decrease muscle soreness, and spasms, and help move lymph and nutrients through the system.
Some attempts have been made to treat the pain caused by arthritic changes through the use of laser therapy, in particular class IV laser therapy. Well-controlled clinical trials are unfortunately lacking, and much of the evidence for these procedures remains anecdotal.
The use of pressure-reducing pet beds, ramps, stairs, and steps built with wood, plastic, metal, or foam prevent further damage. Hip hammocks have been tested and proven effective in aiding dogs suffering from hip dysplasia.[18]
### Surgical interventions[edit]
Surgical procedures attempt to modify, repair, or replace the hip joint in order to allow pain-free usage.
* Femoral head ostectomy (FHO) is when the head of the femur is removed but not replaced. Instead, the resulting scar tissue from the operation takes the place of the hip joint. This false joint is less stable with a reduced range of motion than a normal joint, causing an abnormal gait. Nevertheless, pain relief with adequate function can be achieved. The procedure can be performed in all dogs of all sizes, but there are usually better long-term success rates in smaller dogs less than 20 kg (44 lbs). This procedure is used when there is significant osteoarthritis and a total hip replacement is cost-prohibitive.[5]
* Triple pelvic osteotomy (TPO) involves bone cuts in the pelvis so that the socket portion of the joint can be rotated over the ball; the bones are then stabilized with a bone plate. This procedure is indicated for dogs under 10 months of age. A TPO can be performed to reestablish joint stability and encourage normal joint development. This procedure is not indicated if osteoarthritis is already present. Recovery time is about six weeks.
* Hip replacement has the highest rate of success, especially in severe cases, since it completely replaces the faulty joint. It usually restores complete mobility if no other joint is affected, and also completely prevents recurrence. It is ideal for dogs over 10 months old that already have established osteoarthritis and can no longer be medically managed.[5] Hip replacement is also the preferred clinical option for serious dysplasia in animals that weigh 40–60 lb (18–27 kg).
* Juvenile pubic symphysiodesis (JPS) is a procedure for very young dogs that manipulates the way the pelvis grows to create a tighter hip. It involves cauterizing the growth plates of the pelvis to halt vertical growth. To compensate, the rest of the pelvis grows outward, in a manner which enhances the "socket" of the hip and provides better support than the dog would have had naturally. Since it relies on growth in puppyhood, it has a very tight window for surgery – between 4 and 5 months old. This is compatible with hip scoring of puppies at 4 months.
* Capsular neurectomy is a procedure in which the hip joint capsule is de-nerved to reduce pain in the hip. This allows the dog to exercise moderately with less pain, thus preventing the leg muscles from weakening from disuse and providing less support to the bad joint. Both hips can be done in one surgery. This surgery should not prevent a future hip replacement if a more complete fix is desired.
## See also[edit]
* Dislocation of hip in animals
## References[edit]
Wikimedia Commons has media related to Hip dysplasia in dogs.
1. ^ Workingdogs.com. "Canine hip dysplasia". Workingdogs.com. Retrieved 2013-08-18.
2. ^ a b c d e "Hip Dysplasia in Dogs". vca_corporate. Retrieved 2019-12-22.
3. ^ Randall, David (Mar 23, 2014). "Ask The Expert Dr. Randall - Hip Dysplasia In Dogs". Youtube. Flexpet. Retrieved Nov 10, 2015.
4. ^ Connor, J.R.; LePage, C.; Swift, B.A.; Yamashita, D.; Bendele, A.M.; Maul, D.; Kumar, S. (2009). "Protective effects of a cathepsin K inhibitor, SB-553484, in the canine partial medial meniscectomy model of osteoarthritis". Osteoarthritis and Cartilage. 17 (9): 1236–1243. doi:10.1016/j.joca.2009.03.015. PMID 19361586.
5. ^ a b c d e f "What is canine hip dysplasia?". Orthopedic Foundation for Animals. 2018. Retrieved December 22, 2019.
6. ^ Comhaire, FH; Snaps, F (March 2008). "Comparison of two canine registry databases on the prevalence of hip dysplasia by breed and the relationship of dysplasia with body weight and height". American Journal of Veterinary Research. 69 (3): 330–3. doi:10.2460/ajvr.69.3.330. PMID 18312130.
7. ^ "Hip Dysplasia by Breed". Orthopedic Foundation for Animals. 2016. Archived from the original on 2010-10-19. Retrieved 2017-04-30.
8. ^ "A number of environmental factors can affect the incidence of hip dysplasia in dogs - NVH". Veths.no. 2012-03-13. Retrieved 2013-08-18.
9. ^ Torres; de la Riva, G; Hart, BL; Farver, TB; Oberbauer, AM; Messam, LLM; Willits, N; et al. (2013). "Neutering Dogs: Effects on Joint Disorders and Cancers in Golden Retrievers". PLoS ONE. 8 (2): e55937. Bibcode:2013PLoSO...855937T. doi:10.1371/journal.pone.0055937. PMC 3572183. PMID 23418479.
10. ^ "Hip Dysplasia in Dogs: Causes, Symptoms & Treatment". American Kennel Club. Retrieved 2019-12-22.
11. ^ a b "Study compares PennHIP vs OFA hip dysplasia tests". www.aaha.org. Retrieved 2019-12-22.
12. ^ "Hip dysplasia and breeding advice". www.thekennelclub.org.uk. Retrieved 2019-12-22.
13. ^ [1] Archived June 13, 2006, at the Wayback Machine
14. ^ Lenehan TM, Van Sickle DC (1985). "Chapter 84: Canine osteochondrosis". In Nunamaker DM, Newton CD (eds.). Textbook of small animal orthopaedics. Philadelphia: Lippincott. ISBN 978-0-397-52098-5.
15. ^ a b c "Arthritis in the Dog". Vetrica.com. 2004-02-09. Archived from the original on 2014-02-04. Retrieved 2013-08-18.
16. ^ "Helpful Medicine for Hip Dysplasia in Dogs. 10 Tips for Treating Hip Dysplasia without Surgery". Dr. Buzby's ToeGrips for Dogs. 2019-02-06. Retrieved 2019-12-22.
17. ^ Terry DE, Rees-Milton K, Smith P, Carran J, Pezeshki P, Woods C, Greer P, Anastassiades TP (2005). "N-acylation of glucosamine modulates chondrocyte growth, proteoglycan synthesis, and gene expression". J. Rheumatol. 32 (9): 1775–86. PMID 16142878.
18. ^ "Friday Find: Animal Assistance Products-For Pets Who Need a Little Extra Support". Fourgreensteps.com. 2012-02-17. Archived from the original on 2012-04-16. Retrieved 2013-08-18.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Hip dysplasia (canine)
|
c0019556
| 7,934 |
wikipedia
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https://en.wikipedia.org/wiki/Hip_dysplasia_(canine)
| 2021-01-18T18:58:52 |
{"mesh": ["D006619"], "wikidata": ["Q1434611"]}
|
a rare inherited disorder affecting the metabolism of bilirubin
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.
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Crigler–Najjar syndrome
Other namesCNS
Bilirubin
SpecialtyPediatrics, hepatology
Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner.
This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along with Gilbert's syndrome, Dubin–Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Unlike Gilbert's syndrome, only a few causes of Crigler-Najjar syndrome are known.
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Type I
* 2.2 Type II
* 2.3 Differential diagnosis
* 3 Treatment
* 4 Research
* 5 Eponym
* 6 References
* 7 External links
## Cause[edit]
It is caused by abnormalities in the gene coding for uridine diphosphoglucuronate glucuronosyltransferase (UGT1A1). UGT1A1 normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes. Conjugated bilirubin is more water soluble and is excreted in bile.
## Diagnosis[edit]
### Type I[edit]
This is a very rare disease (estimated at 0.6–1.0 per million live births), and consanguinity increases the risk of this condition (other rare diseases may be present). Inheritance is autosomal recessive.
Intense jaundice appears in the first days of life and persists thereafter. Type 1 is characterised by a serum bilirubin usually above 345 µmol/L [20 mg/dL] (range 310–755 µmol/L [18–44 mg/dL]) (whereas the reference range for total bilirubin is 2–14 μmol/L [0.1–0.8 mg/dL]).
No UDP glucuronosyltransferase 1-A1 expression can be detected in the liver tissue. Hence, there is no response to treatment with phenobarbital,[1] which causes CYP450 enzyme induction. Most patients (type IA) have a mutation in one of the common exons (2 to 5), and have difficulties conjugating several additional substrates (several drugs and xenobiotics). A smaller percentage of patients (type IB) have mutations limited to the bilirubin-specific A1 exon; their conjugation defect is mostly restricted to bilirubin itself.
Before the availability of phototherapy, these children died of kernicterus (bilirubin encephalopathy) or survived until early adulthood with clear neurological impairment. Today, therapy includes
* exchange transfusions in the immediate neonatal period
* 12 hours/day phototherapy
* heme oxygenase inhibitors to reduce transient worsening of hyperbilirubinemia (although the effect decreases over time)
* oral calcium phosphate and carbonate to form complexes with bilirubin in the gut
* liver transplantation before the onset of brain damage and before phototherapy becomes ineffective at later age
### Type II[edit]
The inheritance patterns of both Crigler–Najjar syndrome types I and II are autosomal recessive.[2]
However, type II differs from type I in a number of different aspects:
* Bilirubin levels are generally below 345 µmol/L [20 mg/dL] (range 100–430 µmol/L [6–24 mg/dL]; thus, overlap may sometimes occur), and some cases are only detected later in life.
* Because of lower serum bilirubin, kernicterus is rare in type II.
* Bile is pigmented, instead of pale in type I or dark as normal, and monoconjugates constitute the largest fraction of bile conjugates.
* UGT1A1 is present at reduced but detectable levels (typically <10% of normal), because of single base pair mutations.
* Therefore, treatment with phenobarbital is effective, generally with a decrease of at least 25% in serum bilirubin. In fact, this can be used, along with these other factors, to differentiate type I and II.
### Differential diagnosis[edit]
Neonatal jaundice may develop in the presence of sepsis, hypoxia, hypoglycemia, hypothyroidism, hypertrophic pyloric stenosis, galactosemia, fructosemia, etc.
Hyperbilirubinemia of the unconjugated type may be caused by:
* increased production
* hemolysis (e.g., hemolytic disease of the newborn, hereditary spherocytosis, sickle cell disease)
* ineffective erythropoiesis
* massive tissue necrosis or large hematomas
* decreased clearance
* drug-induced
* physiological neonatal jaundice and prematurity
* liver diseases such as advanced hepatitis or cirrhosis
* breast milk jaundice and Lucey–Driscoll syndrome
* Crigler–Najjar syndrome and Gilbert syndrome
In Crigler–Najjar syndrome and Gilbert syndrome, routine liver function tests are normal, and hepatic histology usually is normal, too. No evidence for hemolysis is seen. Drug-induced cases typically regress after discontinuation of the substance. Physiological neonatal jaundice may peak at 85–170 µmol/l and decline to normal adult concentrations within two weeks. Prematurity results in higher levels.
## Treatment[edit]
Plasmapheresis and phototherapy are used for treatment. Liver transplant is curative.[citation needed]
## Research[edit]
A San Francisco based company named Audentes Therapeutics is currently investigating the treatment of Crigler-Najjar syndrome with one of their gene replacement therapy products, AT342. Preliminary success has been found in early stages of a phase 1/2 clinical trial.[3]
One 10-year-old girl with Crigler–Najjar syndrome type I was successfully treated by liver cell transplantation.[4]
The homozygous Gunn rat, which lacks the enzyme uridine diphosphate glucuronyltransferase (UDPGT), is an animal model for the study of Crigler–Najjar syndrome. Since only one enzyme is working improperly, gene therapy for Crigler-Najjar is a theoretical option which is being investigated.[5]
## Eponym[edit]
The condition is named for John Fielding Crigler (1919 – May 13, 2018), an American pediatrician and Victor Assad Najjar (1914–2002), a Lebanese-American pediatrician.[6][7]
## References[edit]
1. ^ Jansen PL (December 1999). "Diagnosis and management of Crigler–Najjar syndrome". European Journal of Pediatrics. 158 (Suppl 2): S89–S94. doi:10.1007/PL00014330. PMID 10603107.
2. ^ Crigler Najjar Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/crigler-najjar-syndrome/.
3. ^ "AT342 – Crigler-Najjar Syndrome – Audentes Therapeutics". www.audentestx.com. Retrieved 2019-03-09.
4. ^ Fox IJ, Chowdhury JR, Kaufman SS, Goertzen TC, Chowdhury NR, Warkentin PI, Dorko K, Sauter BV, Strom SC (May 1998). "Treatment of the Crigler–Najjar syndrome type I with hepatocyte transplantation". The New England Journal of Medicine. 338 (20): 1422–6. doi:10.1056/NEJM199805143382004. PMID 9580649.
5. ^ Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, Mcdonagh AF, Beaudet AL, Lee B (March 2005). "Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector". Proceedings of the National Academy of Sciences of the United States of America. 102 (11): 3930–5. Bibcode:2005PNAS..102.3930T. doi:10.1073/pnas.0500930102. PMC 554836. PMID 15753292.
6. ^ Crigler JF Jr, Najjar VA (February 1952). "Congenital familial nonhemolytic jaundice with kernicterus; a new clinical entity". American Journal of Diseases of Children. 83 (2): 259–60. ISSN 0096-8994. PMID 14884759.
7. ^ synd/86 at Who Named It?
## External links[edit]
Classification
D
* ICD-10: E80.5
* ICD-9-CM: 277.4
* OMIM: 218800 606785
* MeSH: D003414
* DiseasesDB: 3176
External resources
* MedlinePlus: 001127
* eMedicine: med/476
* Patient UK: Crigler–Najjar syndrome
* Crigler–Najjar syndrome, type 1 at NIH's Office of Rare Diseases
* Crigler–Najjar syndrome, type 2 at NIH's Office of Rare Diseases
* v
* t
* e
Heme metabolism disorders
Porphyria,
hepatic and erythropoietic
(porphyrin)
early mitochondrial:
* ALAD porphyria
* Acute intermittent porphyria
cytoplasmic:
* Gunther disease/congenital erythropoietic porphyria
* Porphyria cutanea tarda/Hepatoerythropoietic porphyria
late mitochondrial:
* Hereditary coproporphyria
* Harderoporphyria
* Variegate porphyria
* Erythropoietic protoporphyria
Hereditary hyperbilirubinemia
(bilirubin)
unconjugated:
* Gilbert's syndrome
* Crigler–Najjar syndrome
* Lucey–Driscoll syndrome
conjugated:
* Dubin–Johnson syndrome nd sheet
* Rotor 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
|
Crigler–Najjar syndrome
|
c0010324
| 7,935 |
wikipedia
|
https://en.wikipedia.org/wiki/Crigler%E2%80%93Najjar_syndrome
| 2021-01-18T18:56:32 |
{"mesh": ["D003414"], "umls": ["C0010324"], "icd-9": ["277.4"], "orphanet": ["205"], "wikidata": ["Q1140000"]}
|
Muscle imbalance
Agonist and antagonist muscles have a role in muscle imbalance.
Muscle imbalance can be described as the respective equality between the antagonist and agonist, this balance is necessary for normal muscle movement and roles.[1] Muscular imbalance can also be explained in the scenario where the muscle performs outside of normal physiological muscle function.[2][3]
Muscle balance is considered to be the harmonious action where muscles that surround a joint work together with normal opposing force to keep the bones involved with the joint centered, thus accomplishing human movement[3] Muscles that have become imbalanced are usually result of either adaption or dysfunction, they can be classed as functional or pathological.
## Contents
* 1 Symptoms
* 1.1 Tennis elbow
* 1.2 Lazy eye
* 1.3 Scoliosis
* 2 Functional and pathological muscle imbalance
* 2.1 Functional imbalance
* 2.2 Pathological imbalance
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 History
* 7 Controversies
* 8 References
## Symptoms[edit]
Classic symptoms of muscle imbalances are usually pain associated with the affected joint.[1] Symptoms can vary depending on what stage their muscular imbalance is, functional or pathological, but commonly exhibit small tissue damage or lesions accompanied by a change in muscle movement patterns.[1] Symptoms may occur after injury or surgery, where the recuperation of the joint affected is left untreated causing either tension or restriction to flexibility and strength of the prime movers.[2]
### Tennis elbow[edit]
This shows an example of the repetitive movement that may cause tennis elbow.
Tennis elbow is the most common elbow problem among athletes, highly associated with world class tennis players, it is a condition that involves the common wrist extensor origin, in particular the origin of extensor carpi radialis.[4] The causes for tennis elbow includes any activity, not only tennis, where the repetitive use of the extensor muscles of the forearm may cause acute or chronic tendonitis of the tensinous insertion of these muscles at the lateral epicondyle of the elbow.[5] The condition itself is most common with painters, plumbers, and carpenters. Further studied have shown that auto-workers, butchers and cooks also get tennis elbow more often than the rest of the population.[5]
### Lazy eye[edit]
Lazy eye, in particular strabismus may be the result of coordination between the extraocular muscles, which prevents a person on directing both eyes in unison towards the same fixation point.[6] The main cause of strabismus is usually the muscular imbalance of the six surrounding muscles that allow both eyes to focus on the same object.[7] As each eye does not have the same focus, different images are sent to the brain, confusing it, resulting in the brain ignoring the image from the weaker eye and if left untreated will cause a loss of vision in the ignored eye called amblyopia.[7] Further symptoms of strabismus include decreased vision, double vision, headaches, asthenopia and eye fatigue.[6]
### Scoliosis[edit]
Scoliosis, is a medical condition where a person's spine has several irregular curves that are located between the neck and the pelvis.[8] Symptoms of scoliosis in mild cases usually exhibit abnormal posture, back pain, tingling or numbness in the legs and in worse cases can exhibit breathing problems, fatigue, permanent deformities and in rare cases heart problems.[8]
## Functional and pathological muscle imbalance[edit]
### Functional imbalance[edit]
Functional Imbalances are when the muscles adapt in response for detailed muscle movement patterns, including unequal values in strength or flexibility of antagonistic muscle groups, usually apparent in athletes of different sports ranging from soccer to baseball.[1] This type of imbalance is the first stage, it is painless, atraumatic (causes minimal tissue injury[9]), adaptive to change and activity specific.[1] Studies confirm this as they find the link between muscle imbalance and athletes who perform at elite levels, this also relates to injury occurrence is not treated to muscle specific rehabilitation.[10]
### Pathological imbalance[edit]
Pathological muscle imbalance occurs when the imbalance of the muscles begin to inhibit function.[1] This pathological muscle imbalance may or may not result from a traumatic event, it is usually associated with pain and dysfunction, although there are cases where pain is not apparent, however pathological muscle imbalances ultimately lead to joint dysfunction and changes in normative muscle movement patterns.[1] It would be good to note that this imbalance can progress to either tissue damage and pain or altered movement pattern, with the constant being tightness or weakness.[1] A study has shown that athletes that exhibit shoulder pain have been linked to have decreased rotator cuff muscle strength and have concluded that they are more susceptible to rotator cuff tears and type II superior labrum anterior and posterior lesions.[11]
## Diagnosis[edit]
Muscle imbalance can be characterized by different factors, namely where the muscle imbalance is on the body, diagnosis varies for these specific areas as each area needs to be handled differently. Other signs include joint pain or muscular pain, abnormal joint movement patterns or in some cases, muscle tears and lesions.[11] It can be diagnosed by demonstrating any one of the following:
* Joint inflammation and pain caused by muscle lesion.[1]
* Abnormal muscle movement pattern resulting from the compensation of the joint inflammation.[1]
* Patient history of previous injury can predict an onset of muscular imbalance[12]
## Treatment[edit]
Although treatment for tennis elbow prior 2010 was unknown because the etiology remained unclear, tests confirmed that the cause was an imbalance with the agonist-antagonist functional relationship.[4][13] Treatment now includes anti-inflammatory medicines, rest, equipment check, physical therapy, braces, steroid injections, shock wave therapy and if symptoms persist after 6 to 12 months, doctors may recommend surgery.[5]
Strabismus, an ocular condition that prevents both eyes simultaneously focusing on the same point.
Although treatment varies depending on how bad eye alignment is and also the underlying causes of strabismus.[14] Treatment for strabismus may include orthoptics a term used for eye muscle training, this treatment can be provided by orthoptists and also optometrists.[15] Other treatment may include wearing eye patches aimed at strengthening the weaker eye while inhibiting the stronger eye, an alternative to eye patches is the use of an opaque lens, other treatments may include eye drops to temporarily inhibit the stronger eye and at any age eye muscle surgery can be done to correct the muscular balance of the ocular muscles.[7][14][16]
An ex-ray of a spine affected by scoliosis belonging to a 15 year old.
Although the cause of scoliosis can sometimes remain unknown (idiopathic scoliosis) there is treatment available that targets at strengthening the back muscles, for milder cases usually do not require medical attention, more severe cases require either muscle strengthening exercises aimed at the back muscles and even special back braces or surgery can be recommended if the case is extreme.[8] Studies have shown that treatment with a special back brace among children ranging from 10–16 years can be successful and using this method of muscle training scoliosis can be cured with non-surgical treatment.[17]
## Prognosis[edit]
In terms of selective muscle weakness or poor flexibility muscular imbalance is frequently regarded as an etiological factor in the onset of musculoskeletal disorders.[2] There are a variety of areas that can be affected, each causing different symptoms hence there are also different treatments available, but in general cases muscle strengthening techniques were developed for the use on the weak or tight muscles.[18]
## History[edit]
For a long time muscular imbalance had many different theories that revolved around it. It wasn't until 1949 when there was a first manual on muscle testing appeared, written by therapists Henry and Florence Kendall, which discusses muscle weakness in polio patients and treatments approaching tight and weak muscles.[18]
In the 1960s Dr. George Goodheart and Dr. Vladimir Janda each took their own paths in treating patients with muscular imbalance, Goodheart focusing on muscle weakness being the primary cause of muscle imbalance, whilst Janda took on the muscle tightness approach, both developed a large following that continues on today.[1]
## Controversies[edit]
There is evidence to support two different approaches to muscular imbalance, the first is a biomechanical approach that believed the cause was due from repeated movements in one direction or sustained postures, this was widespread by Kendall. The second is a neuromuscular imbalance due to certain muscle groups being tight or weak, popularized by Janda this approach is based on movement patterns that evolve from birth.[3] Today there are many different types of therapists who treat muscle imbalance, these include chiropractors, osteopaths, physical therapists, medical doctors and massage therapists each assessing tightness or weakness as the primary cause of muscular imbalance.[18]
## References[edit]
1. ^ a b c d e f g h i j k Assessment and Treatment of Muscle Imbalance: The Janda Approach. Human Kinetics. ISBN 9781450408288.
2. ^ a b c A., Schlumberger; W., Laube; S., Bruhn; B., Herbeck; M., Dahlinger; G., Fenkart; D., Schmidtbleicher; F., Mayer (1 January 2006). "Muscle imbalances – fact or fiction?". Isokinetics and Exercise Science. 14 (1): 3–11. doi:10.3233/IES-2006-0229.
3. ^ a b c "What is Muscle Imbalance". www.muscleimbalancesyndromes.com. Retrieved 2015-08-31.
4. ^ a b Alizadehkhaiyat, Omid; Fisher, Anthony C.; Kemp, Graham J.; Vishwanathan, Karthik; Frostick, Simon P. (2007-12-01). "Upper limb muscle imbalance in tennis elbow: A functional and electromyographic assessment". Journal of Orthopaedic Research. 25 (12): 1651–1657. doi:10.1002/jor.20458. ISSN 1554-527X. PMID 17600835.
5. ^ a b c "Tennis Elbow (Lateral Epicondylitis)-OrthoInfo - AAOS". orthoinfo.aaos.org. Retrieved 2015-09-07.
6. ^ a b Kaiser, Peter K.; Friedman, Neil J.; II, Roberto Pineda II (2014-02-28). The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Elsevier Health Sciences. ISBN 9780323225274.
7. ^ a b c "Strabismus: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2015-09-07.
8. ^ a b c "Scoliosis". Harvard Health Publishing. April 2019. Retrieved 16 July 2020.
9. ^ "atraumatic". Cite journal requires `|journal=` (help)
10. ^ Franettovich, M.; Hides, J.; Mendis, M. D.; Littleworth, H. (2011-04-01). "Muscle imbalance among elite athletes". British Journal of Sports Medicine. 45 (4): 348–349. doi:10.1136/bjsm.2011.084038.109. ISSN 1473-0480.
11. ^ a b Mihata, Teruhisa; Gates, Jeffrey; McGarry, Michelle H.; Lee, Jason; Kinoshita, Mitsuo; Lee, Thay Q. (2009-11-01). "Effect of Rotator Cuff Muscle Imbalance on Forceful Internal Impingement and Peel-Back of the Superior Labrum A Cadaveric Study". The American Journal of Sports Medicine. 37 (11): 2222–2227. doi:10.1177/0363546509337450. ISSN 0363-5465. PMID 19773527.
12. ^ "Muscle Imbalance, Part 1: A common, often undetected cause of aches, pains and disability. - Dr. Phil Maffetone". 2015-04-29. Retrieved 2015-09-08.
13. ^ Bisset, L.; Paungmali, A.; Vicenzino, B.; Beller, E. (2005-07-01). "A systematic review and meta-analysis of clinical trials on physical interventions for lateral epicondylalgia". British Journal of Sports Medicine. 39 (7): 411–422. doi:10.1136/bjsm.2004.016170. ISSN 1473-0480. PMC 1725258. PMID 15976161.
14. ^ a b "Strabismus". kidshealth.org. Retrieved 2015-09-08.
15. ^ "Esotropia | Exotropia | Treatment Options | Strabismus". www.strabismus.org. Retrieved 2015-09-08.
16. ^ "Lazy eye (Amblyopia)". Harvard Health Publishing. March 2019. Retrieved 16 July 2020.
17. ^ Šarčević, Zoran (2010-09-01). "Scoliosis: muscle imbalance and treatment". British Journal of Sports Medicine. 44 (Suppl 1): i16. doi:10.1136/bjsm.2010.078725.49. ISSN 1473-0480.
18. ^ a b c "Muscle Imbalance, Part 2. - Dr. Phil Maffetone". 2015-04-29. Retrieved 2015-09-08.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
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Muscle imbalance
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https://en.wikipedia.org/wiki/Muscle_imbalance
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{"wikidata": ["Q1955408"]}
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For other uses, see Concussion (disambiguation).
Type of traumatic brain injury
Concussion
Other namesMild brain injury, mild traumatic brain injury (mTBI), mild head injury (MHI), minor head trauma
Acceleration (g-forces) can exert rotational forces in the brain, especially the midbrain and diencephalon.
SpecialtyEmergency medicine, neurology
SymptomsHeadache, trouble with thinking, memory or concentration, nausea, blurry vision, sleep disturbances, mood changes[1]
ComplicationsChronic traumatic encephalopathy, Parkinson's disease, depression, post-concussion syndrome
DurationUp to 4 weeks[2]
CausesMotor vehicle collisions, falls, sports injuries, bicycle accidents[3][4]
Risk factorsDrinking alcohol, playing contact sports such as American football, previous history of concussion[5]
Diagnostic methodBased on symptoms[6]
PreventionHelmets when bicycling or motorbiking[3]
TreatmentPhysical and cognitive rest for a day or two with a gradual return to activities[7][2]
MedicationParacetamol (acetaminophen), NSAIDs[2]
Frequency6 per 1,000 people a year[3]
Concussion, also known as mild traumatic brain injury (mTBI), is a head injury that temporarily affects brain functioning.[8] Symptoms may include loss of consciousness (LOC); memory loss; headaches; difficulty with thinking, concentration or balance; nausea; blurred vision; sleep disturbances; and mood changes.[1] Any of these symptoms may begin immediately, or appear days after the injury.[1] Concussion should be suspected if a person indirectly or directly hits their head and experiences any of the symptoms of concussion.[9] It is not unusual for symptoms to last 2 weeks in adults and 4 weeks in children.[10][2] Fewer than 10% of sports-related concussions among children are associated with loss of consciousness.[11]
Common causes include motor vehicle collisions, falls, sports injuries, and bicycle accidents.[3][4] Risk factors include drinking alcohol and a prior history of concussion.[10][5] The mechanism of injury involves either a direct blow to the head or forces elsewhere on the body that are transmitted to the head.[10] This is believed to result in neuron dysfunction, as there are increased glucose requirements, but not enough blood supply.[2] A full differential diagnosis by a physician or nurse practitioner is required to rule out life threatening head injuries, injuries to the cervical spine, and neurological conditions.[6][12] Glasgow coma scale score 13 to 15, loss of consciousness for less than 30 minutes, and memory loss for less than 24 hours may be used to rule out moderate or severe traumatic brain injuries.[6] Diagnostic imaging such as a CT scan or an MRI may also be required to rule out severe head injuries.[12] Routine imaging is not required to diagnose concussion.[13]
Prevention of concussions includes the use of a helmet when bicycling or motorbiking.[3] Treatment includes physical and cognitive rest for 1–2 days, with a gradual step-wise return to activities, school, and work.[7][2][14] Prolonged periods of rest may slow recovery and result in greater depression and anxiety.[2] Paracetamol (acetaminophen) or NSAIDs may be recommended to help with a headache.[2] Physiotherapy may be useful for persistent balance problems; cognitive behavioral therapy may be useful for mood changes.[2] Evidence to support the use of hyperbaric oxygen therapy and chiropractic therapy is lacking.[2]
Worldwide, concussions are estimated to affect more than 3.5 per 1,000 people a year.[15] Concussions are classified as mild traumatic brain injuries and are the most common type of TBIs.[3][15] Males and young adults are most commonly affected.[3][15] Outcomes are generally good.[16] Another concussion before the symptoms of a prior concussion have resolved is associated with worse outcomes.[17][18] Repeated concussions may also increase the risk in later life of chronic traumatic encephalopathy, Parkinson's disease and depression.[19]
Play media
Video explanation of concussions in children[20]
## Contents
* 1 Signs and symptoms
* 1.1 Physical
* 1.2 Cognitive and emotional
* 2 Mechanism
* 2.1 Forces
* 2.2 Pathophysiology
* 3 Diagnosis
* 3.1 Classification
* 4 Prevention
* 5 Treatment
* 5.1 Rest and return to physical and cognitive activity
* 5.2 Return-to-school
* 5.3 Return-to-sport
* 5.4 Medications
* 5.5 Return to work
* 6 Prognosis
* 6.1 Pediatric concussion
* 6.2 People aged 65+ with concussion
* 6.3 Repeat concussion
* 6.4 Post-concussion syndrome
* 6.5 Cumulative effects
* 6.6 Second-impact syndrome
* 7 Epidemiology
* 7.1 Age
* 7.2 Sports
* 7.3 Workplace
* 8 History
* 9 Society and culture
* 9.1 Costs
* 9.2 Terminology
* 10 Research
* 10.1 Grading systems
* 11 See also
* 12 References
* 13 External links
## Signs and symptoms
Concussions symptoms vary between people and include physical, cognitive, and emotional symptoms.[9] Symptoms may appear immediately or be delayed.[9] Up to one-third of people with concussion experience prolonged or persistent concussion symptoms, also known as post concussion syndrome, which is defined as concussion symptoms lasting for 4-weeks or longer in children/adolescents and symptoms lasting for more than 14 days in an adult.[12][10] The severity of the initial symptoms is the strongest predictor of recovery time in adults.[10]
### Physical
Headaches are the most common mTBI symptom.[21] Others include dizziness, vomiting, nausea, lack of motor coordination, difficulty balancing,[21] or other problems with movement or sensation. Visual symptoms include light sensitivity,[22] seeing bright lights,[23] blurred vision,[24] and double vision.[25] Tinnitus, or a ringing in the ears, is also commonly reported.[24] In one in about seventy concussions, concussive convulsions occur, but seizures that take place during or immediately after a concussion are not "post-traumatic seizures", and, unlike post-traumatic seizures, are not predictive of post-traumatic epilepsy, which requires some form of structural brain damage, not just a momentary disruption in normal brain functioning.[26] Concussive convulsions are thought to result from temporary loss or inhibition of motor function and are not associated either with epilepsy or with more serious structural damage. They are not associated with any particular sequelae and have the same high rate of favorable outcomes as concussions without convulsions.[27]
### Cognitive and emotional
Cognitive symptoms include confusion, disorientation, and difficulty focusing attention. Loss of consciousness may occur, but is not necessarily correlated with the severity of the concussion if it is brief.[28] Post-traumatic amnesia, in which events following the injury cannot be recalled, is a hallmark of concussions.[21] Confusion, another concussion hallmark, may be present immediately or may develop over several minutes.[21] A person may repeat the same questions,[29] be slow to respond to questions or directions, have a vacant stare, or have slurred[21] or incoherent speech.[30] Other mTBI symptoms include changes in sleeping patterns[24] and difficulty with reasoning,[25] concentrating, and performing everyday activities.[21]
A concussion can result in changes in mood including crankiness, loss of interest in favorite activities or items,[31] tearfulness,[32] and displays of emotion that are inappropriate to the situation.[30] Common symptoms in concussed children include restlessness, lethargy, and irritability.[33]
## Mechanism
Rotational force is key in a concussion. Punches in boxing can deliver more rotational force to the head than the typical impact in American football.[34]
### Forces
The brain is surrounded by cerebrospinal fluid, which protects it from light trauma. More severe impacts, or the forces associated with rapid acceleration, may not be absorbed by this cushion.[35] Concussions, and other head-related injuries, occur when external forces acting on the head are transferred to the brain.[36] Such forces can occur when the head is struck by an object or surface (a ‘direct impact’), or when the torso rapidly changes position (i.e. from a body check) and force is transmitted to the head (an ‘indirect impact’).[36]
Forces may cause linear, rotational, or angular movement of the brain or a combination of them.[32] In rotational movement, the head turns around its center of gravity and in angular movement, it turns on an axis, not through its center of gravity.[32] The amount of rotational force is thought to be the major component in concussion[37] and its severity.[38] As of 2007, studies with athletes have shown that the amount of force and the location of the impact are not necessarily correlated with the severity of the concussion or its symptoms, and have called into question the threshold for concussion previously thought to exist at around 70–75 g.[39][40]
The parts of the brain most affected by rotational forces are the midbrain and diencephalon.[41][4] It is thought that the forces from the injury disrupt the normal cellular activities in the reticular activating system located in these areas and that this disruption produces the loss of consciousness often seen in concussion.[4] Other areas of the brain that may be affected include the upper part of the brain stem, the fornix, the corpus callosum, the temporal lobe, and the frontal lobe.[42] Angular accelerations of 4600, 5900, or 7900 rad/s2 are estimated to have 25, 50, or 80% risk of mTBI respectively.[43]
### Pathophysiology
In both animals and humans, mTBI can alter the brain's physiology for hours to years,[44][45] setting into motion a variety of pathological events.[46] As one example, in animal models, after an initial increase in glucose metabolism, there is a subsequent reduced metabolic state which may persist for up to four weeks after injury.[11] Though these events are thought to interfere with neuronal and brain function, the metabolic processes that follow concussion are reversible in a large majority of affected brain cells; however, a few cells may die after the injury.[47]
Included in the cascade of events unleashed in the brain by concussion is impaired neurotransmission, loss of regulation of ions, deregulation of energy use and cellular metabolism, and a reduction in cerebral blood flow.[47] Excitatory neurotransmitters, chemicals such as glutamate that serve to stimulate nerve cells, are released in excessive amounts.[48] The resulting cellular excitation causes neurons to fire excessively.[49] This creates an imbalance of ions such as potassium and calcium across the cell membranes of neurons (a process like excitotoxicity).[47]
At the same time, cerebral blood flow is relatively reduced for unknown reasons,[22] though the reduction in blood flow is not as severe as it is in ischemia.[47] Thus cells get less glucose than they normally do, which causes an "energy crisis".[22]
Concurrently with these processes, the activity of mitochondria may be reduced, which causes cells to rely on anaerobic metabolism to produce energy, increasing levels of the byproduct lactate.[47]
For a period of minutes to days after a concussion, the brain is especially vulnerable to changes in intracranial pressure, blood flow, and anoxia.[22] According to studies performed on animals (which are not always applicable to humans), large numbers of neurons can die during this period in response to slight, normally innocuous changes in blood flow.[22]
Concussion involves diffuse (as opposed to focal) brain injury, meaning that the dysfunction occurs over a widespread area of the brain rather than in a particular spot.[50] It is thought to be a milder type of diffuse axonal injury, because axons may be injured to a minor extent due to stretching.[32] Animal studies in which rodents were concussed have revealed lifelong neuropathological consequences such as ongoing axonal degeneration and neuroinflammation in subcortical white matter tracts.[51] Axonal damage has been found in the brains of concussion sufferers who died from other causes, but inadequate blood flow to the brain due to other injuries may have contributed.[24] Findings from a study of the brains of deceased NFL athletes who received concussions suggest that lasting damage is done by such injuries. This damage, the severity of which increases with the cumulative number of concussions sustained, can lead to a variety of other health issues.[52]
The debate over whether concussion is a functional or structural phenomenon is ongoing.[53] Structural damage has been found in the mildly traumatically injured brains of animals, but it is not clear whether these findings would apply to humans.[41] Such changes in brain structure could be responsible for certain symptoms such as visual disturbances, but other sets of symptoms, especially those of a psychological nature, are more likely to be caused by reversible pathophysiological changes in cellular function that occur after concussion, such as alterations in neurons' biochemistry.[38] These reversible changes could also explain why dysfunction is frequently temporary.[53] A task force of head injury experts called the Concussion In Sport Group met in 2001 and decided that "concussion may result in neuropathological changes but the acute clinical symptoms largely reflect a functional disturbance rather than structural injury."[54]
Using animal studies, the pathology of a concussion seems to start with mechanical shearing and stretching forces disrupting the cell membrane of nerve cells through "mechanoporation".[55] This results in potassium outflow from within the cell into the extracellular space with the subsequent release of excitatory neurotransmitters including glutamate which leads to enhanced potassium extrusion, in turn resulting in sustained depolarization, impaired nerve activity and potential nerve damage.[55] Human studies have failed to identify changes in glutamate concentration immediately post-mTBI, though disruptions have been seen 3 days to 2 weeks post-injury.[55] In an effort to restore ion balance, the sodium-potassium ion pumps increase activity, which results in excessive ATP (adenosine triphosphate) consumption and glucose utilization, quickly depleting glucose stores within the cells.[56] Simultaneously, inefficient oxidative metabolism leads to anaerobic metabolism of glucose and increased lactate accumulation.[56] There is a resultant local acidosis in the brain and increased cell membrane permeability, leading to local swelling.[56] After this increase in glucose metabolism, there is a subsequent lower metabolic state which may persist for up to 4 weeks after injury. A completely separate pathway involves a large amount of calcium accumulating in cells, which may impair oxidative metabolism and begin further biochemical pathways that result in cell death. Again, both of these main pathways have been established from animal studies and the extent to which they apply to humans is still somewhat unclear.[11]
## Diagnosis
Red flags are warning signs that may indicate a more serious problem and require immediate emergency medical attention Red flag symptoms (emergent assessment required)[57]
Seizure or convulsions
Worsening headache
Difficulty waking up (or loss of consciousness)
Seeing double
Problem recognizing people or places or confusion
Repeated vomiting
Numbness, weakness in extremities, or slurred speech
Not usual self, aggressive, or agitated behaviour
Neck pain or tenderness in the neck
Unequal pupil size is not a sign of concussion and can be a sign of a more serious brain injury.
Head trauma recipients are initially assessed to exclude a more severe emergency such as an intracranial hemorrhage. This includes the "ABCs" (airway, breathing, circulation) and stabilization of the cervical spine which is assumed to be injured in any athlete who is found to be unconscious after head or neck injury. Indications that screening for more serious injury is needed include worsening of symptoms such as headaches, persistent vomiting,[58] increasing disorientation or a deteriorating level of consciousness,[59] seizures, and unequal pupil size.[60] Those with such symptoms, or those who are at higher risk of a more serious brain injury, may undergo brain imaging to detect lesions and are frequently observed for 24–48 hours. A brain CT or brain MRI should be avoided unless there are progressive neurological symptoms, focal neurological findings or concern of skull fracture on exam.[61]
Diagnosis of concussion requires an assessment performed by a physician or nurse practitioner to rule out severe injuries to the brain and cervical spine, mental health conditions, or other medical conditions.[12] Diagnosis is based on physical and neurological examination findings, duration of unconsciousness (usually less than 30 minutes) and post-traumatic amnesia (PTA; usually less than 24 hours), and the Glasgow Coma Scale (mTBI sufferers have scores of 13 to 15).[62] A CT scan or MRI is not required to diagnose concussion.[12] Neuropsychological tests such as the SCAT5/child SCAT5 may be suggested measure cognitive function.[10][63][64] Such tests may be administered hours, days, or weeks after the injury, or at different times to demonstrate any trend.[65] Some athletes are also being tested pre-season (pre-season baseline testing) to provide a baseline for comparison in the event of an injury, though this may not reduce risk or affect return to play and baseline testing is not required or suggested for most children and adults.[66][67]
If the Glasgow coma scale is less than 15 at two hours or less than 14 at any time, a CT is recommended.[4] In addition, a CT scan is more likely to be performed if observation after discharge is not assured or intoxication is present, there is suspected increased risk for bleeding, age greater than 60,[4] or less than 16. Most concussions, without complication, cannot be detected with MRI or CT scans.[37] However, changes have been reported on MRI and SPECT imaging in those with concussion and normal CT scans, and post-concussion syndrome may be associated with abnormalities visible on SPECT and PET scans.[47][needs update] Mild head injury may or may not produce abnormal EEG readings.[68][needs update] A blood test known as the Brain Trauma Indicator was approved in the United States in 2018 and may be able to rule out the risk of intracranial bleeding and thus the need for a CT scan for adults.[69]
Concussion may be under-diagnosed because of the lack of the highly noticeable signs and symptoms while athletes may minimize their injuries to remain in the competition.[70] Direct impact to the head is not required for a concussion diagnosis, as other bodily impacts with a subsequent force transmission to the head are also causes.[71] A retrospective survey in 2005 suggested that more than 88% of concussions are unrecognized.[72] Particularly, many younger athletes struggle with identifying their concussions, which often result in the non-disclosure of concussions and consequently under-representing the incidence of concussions in the context of sport.[73]
Diagnosis can be complex because concussion shares symptoms with other conditions. For example, post-concussion symptoms such as cognitive problems may be misattributed to brain injury when, in fact, due to post-traumatic stress disorder (PTSD).[74]
There are no fluid biomarkers (i.e., blood or urine tests) that are validated for diagnosing concussion in children or adolescents.[75]
### Classification
No single definition of concussion, minor head injury,[76] or mild traumatic brain injury is universally accepted.[77] In 2001, the expert Concussion in Sport Group of the first International Symposium on Concussion in Sport[54] defined concussion as "a complex pathophysiological process affecting the brain, induced by traumatic biomechanical forces."[28] It was agreed that concussion typically involves temporary impairment of neurological function that heals by itself within time, and that neuroimaging normally shows no gross structural changes to the brain as the result of the condition.[38]
However, although no structural brain damage occurs according to the classic definition,[78] some researchers have included injuries in which structural damage has occurred and the National Institute for Health and Clinical Excellence definition includes physiological or physical disruption in the brain's synapses.[79] Also, by definition, concussion has historically involved a loss of consciousness. However, the definition has evolved over time to include a change in consciousness, such as amnesia,[80] although controversy continues about whether the definition should include only those injuries in which loss of consciousness occurs.[41] This debate resurfaces in some of the best-known concussion grading scales, in which those episodes involving loss of consciousness are graded as being more severe than those without.[81]
Definitions of mild traumatic brain injury (mTBI) were inconsistent until the World Health Organization's International Statistical Classification of Diseases and Related Health Problems (ICD-10) provided a consistent, authoritative definition across specialties in 1992.[82] Since then, various organizations such as the American Congress of Rehabilitation Medicine[21] and the American Psychiatric Association in its Diagnostic and Statistical Manual of Mental Disorders[82] have defined mTBI using some combination of loss of consciousness (LOC), post-traumatic amnesia (PTA), and the Glasgow Coma Scale (GCS).
Concussion falls under the classification of mild TBI,[83] but it is not clear whether concussion is implied in mild brain injury or mild head injury.[84][needs update] "mTBI" and "concussion" are often treated as synonyms in medical literature[21] but other injuries such as intracranial hemorrhages (e.g. intra-axial hematoma, epidural hematoma, and subdural hematoma) are not necessarily precluded in mTBI[38] or mild head injury,[85][86] as they are in concussion.[87] mTBI associated with abnormal neuroimaging may be considered "complicated mTBI".[47] "Concussion" can be considered to imply a state in which brain function is temporarily impaired and "mTBI" to imply a pathophysiological state, but in practice, few researchers and clinicians distinguish between the terms.[38] Descriptions of the condition, including the severity and the area of the brain affected, are now used more often than "concussion" in clinical neurology.[88]
## Prevention
Main article: Prevention of concussions
Prevention of mTBI involves general measures such as wearing seat belts, using airbags in cars, and protective equipment such as helmets for high-risk sports.[21][89] Older people are encouraged to reduce fall risk by keeping floors free of clutter and wearing thin, flat, shoes with hard soles that do not interfere with balance.[31]
Protective equipment such as helmets and other headgear and policy changes such as the banning of body checking in youth hockey leagues have been found to reduce the number and severity of concussions in athletes.[90] Secondary prevention such as a Return to Play Protocol for an athlete may reduce the risk of repeat concussions.[91] New "Head Impact Telemetry System" technology is being placed in helmets to study injury mechanisms and may generate knowledge that will potentially help reduce the risk of concussions among American Football players.[citation needed]
Educational interventions, such as handouts, videos, workshops, and lectures, can improve concussion knowledge of diverse groups, particularly youth athletes and coaches.[92] Strong concussion knowledge may be associated with greater recognition of concussion symptoms, higher rates of concussion reporting behaviors, and reduced body checking-related penalties and injuries, thereby lowering risk of mTBI.[92]
Due to the incidence of concussion in sport, younger athletes often do not disclose concussions and their symptoms. Common reasons for non-disclosure include a lack of awareness of the concussion, the belief that the concussion was not serious enough, and not wanting to leave the game or team due to their injury.[73] Self-reported concussion rates among U-20 and elite rugby union players in Ireland are 45–48%, indicating that many concussions go unreported.[34] Changes to the rules or enforcing existing rules in sports, such as those against "head-down tackling", or "spearing", which is associated with a high injury rate, may also prevent concussions.[34]
## Treatment
Adults and children with a suspected concussion require a medical assessment to confirm the diagnosis of concussion and rule out more serious head injuries. After a differential diagnosis is performed, exclusion of neck or head injury, observation should be continued for several hours. If repeated vomiting, worsening headache, dizziness, seizure activity, excessive drowsiness, double vision, slurred speech, unsteady walk, or weakness or numbness in arms or legs, or signs of basilar skull fracture develop, immediate assessment in an emergency department is needed.[93][11] Observation to monitor for worsening condition is an important part of treatment.[12] People may be released after assessment from their primary care medical clinic, hospital, or emergency room to the care of a trusted person with instructions to return if they display worsening symptoms or those that might indicate an emergent condition ("red flag symptoms") such as change in consciousness, convulsions, severe headache, extremity weakness, vomiting, new bleeding or deafness in either or both ears.[94][57][12] Education about symptoms, their management, and their normal time course, may lead to an improved outcome.[77][needs update]
### Rest and return to physical and cognitive activity
Physical and cognitive rest is recommended for the first 24–48 hours following a concussion after which injured persons should gradually start gentle low-risk physical and cognitive activities that do not make current symptoms worse or bring on new symptoms.[10][95] Any activity for which there is a risk of contact, falling, or bumping the head should be avoided.[10] Low-risk activities can be started even while a person has symptoms, as long as the activity does not worsen existing symptoms or bring on new concussion symptoms.[57][13] Resting for longer than 24-48 hours follow concussion has been shown to be associated with longer recovery.[96]
### Return-to-school
The resumption of low-risk school activities should begin as soon as the student feels ready and has completed an initial period of cognitive rest of no more than 24–48 hours following the acute injury.[96][97] Long absences from school are not suggested, however, the return to school should be gradual and step-wise.[97] Prolonged complete mental or physical rest (beyond 24–48 hours after the accident that lead to the concussion) may worsen outcomes,[97] however, rushing back to school before the person is ready, has also been associated with longer-lasting symptoms and an extended recovery time.[98] Student's with a suspected concussion are required to see a doctor for an initial medical assessment and for suggestions on recovery, however, medical clearance is not required for a student to return to school.[57] Since students may appear 'normal', continuing education of relevant school personnel may be needed to ensure appropriate accommodations are made such as part-days and extended deadlines.[96] Accommodations should be based on the monitoring of symptoms that are present during the return-to-school transition including headaches, dizziness, vision problems, memory loss, difficulty concentrating, and abnormal behavior.[96][98] Students must have completely resumed their school activities (without requiring concussion-related academic supports) before returning to full-contact sports.[57]
### Return-to-sport
For persons participating in athletics, it is suggested that participants progress through a series of graded steps.[10] These steps include:
* Immediately after injury: 24-48 hours (maximum) of relative physical and cognitive rest.[10]
* Stage 1: Gentle daily activities such as walking in the house, gentle housework, and light school work that do not make symptoms worse. No sports activities.
* Stage 2: Light aerobic activity such as walking or stationary cycling
* Stage 3: Sport-specific activities such as running drills and skating drills
* Stage 4: Non-contact training drills (exercise, coordination, and cognitive load)
* Stage 5: Full-contact practice (requires medical clearance)
* Stage 6: Return to full-contact sport or high-risk activities (requires medical clearance)
At each step, the person should not have worsening or new symptoms for at least 24 hours before progressing to the next. If symptoms worsen or new symptoms begin, athletes should drop back to the previous level for at least another 24 hours.[10]
Intercollegiate or professional athletes, are typically followed closely by team athletic trainers during this period but others may not have access to this level of health care and may be sent home with minimal monitoring.
### Medications
Medications may be prescribed to treat headaches, sleep problems and depression.[77] Analgesics such as ibuprofen can be taken for headaches,[38] but paracetamol (acetaminophen) is preferred to minimize the risk of intracranial hemorrhage.[99] Concussed individuals are advised not to use alcohol or other drugs that have not been approved by a doctor as they can impede healing.[100] Activation database-guided EEG biofeedback has been shown to return the memory abilities of the concussed individual to levels better than the control group.[101]
About one percent of people who receive treatment for mTBI need surgery for a brain injury.[62]
### Return to work
Determining the ideal time for a person to return to work will depend on personal factors and job-related factors including the intensity of the job and the risk of falling or hitting one's head at work during recovery.[12] After the required initial recovery period of complete rest (24-48 hours after the concussion began), gradually and safely returning to the workplace with accommodations and support in place, should be prioritized over staying home and resting for long periods of time, to promote physical recovery and reduce the risk of people becoming socially isolated.[12] The person should work with their employer to design a step-wise "return-to-work" plan.[12] For those with a high-risk job, medical clearance may be required before resuming an activity that could lead to another head injury.[12] Students should have completed the full return-to-school progression with no academic accommodations related to the concussion required before starting to return to part-time work.[57]
## Prognosis
The majority of children and adults fully recover from a concussion, however some may experience a prolonged recovery.[102][103] There is no single physical test, blood test (or fluid biomarkers), or imaging test that can be used to determine when a person has fully recovered from concussion.[104]
A person's recovery may be influenced by a variety of factors that include age at the time of injury, intellectual abilities, family environment, social support system, occupational status, coping strategies, and financial circumstances.[105] Factors such as a previous head injury or a coexisting medical condition have been found to predict longer-lasting post-concussion symptoms.[106] Other factors that may lengthen recovery time after mTBI include psychological problems such as substance abuse or clinical depression, poor health before the injury or additional injuries sustained during it, and life stress.[47] Longer periods of amnesia or loss of consciousness immediately after the injury may indicate longer recovery times from residual symptoms.[107] Other strong factors include participation in a contact sport and body mass size.[108]
### Pediatric concussion
Most children recovery completely from concussion in less than four weeks, however 15-30% of youth may experience symtoms that last longer than a month.[109][110][96]
### People aged 65+ with concussion
Mild traumatic brain injury recovery time in people over age 65 may have increased complications due to elevated health concerns, or comorbidities.[111] This often results in longer hospitalization duration, poorer cognitive outcomes, and higher mortality rates.[111]
### Repeat concussion
For unknown reasons, having had one concussion significantly increases a person's risk of having another.[65][19] Having previously sustained a sports concussion has been found to be a strong factor increasing the likelihood of a concussion in the future. People who have had a concussion seem more susceptible to another one, particularly if the new injury occurs before symptoms from the previous concussion have completely gone away. It is also a negative process if smaller impacts cause the same symptom severity.[93] Repeated concussions may increase a person's risk in later life for dementia, Parkinson's disease, and depression.[19]
### Post-concussion syndrome
Main article: Post-concussion syndrome
In post-concussion syndrome, symptoms do not resolve for weeks, months, or years after a concussion, and may occasionally be permanent.[112] About 10% to 20% of people have post-concussion syndrome for more than a month.[109] Symptoms may include headaches, dizziness, fatigue, anxiety, memory and attention problems, sleep problems, and irritability.[113] Rest, a previously recommended recovery technique, has limited effectiveness.[114] A recommended treatment in both children and adults with symptoms beyond 4 weeks involves an active rehabilitation program with reintroduction of non-contact aerobic activity.[115] Progressive physical exercise has been shown to reduce long-term post-concussive symptoms.[110] Symptoms usually go away on their own within months[87] but may last for years.[116][117] The question of whether the syndrome is due to structural damage or other factors such as psychological ones, or a combination of these, has long been the subject of debate.[74]
### Cumulative effects
As of 1999, cumulative effects of concussions were poorly understood, especially the effects on children. The severity of concussions and their symptoms may worsen with successive injuries, even if a subsequent injury occurs months or years after an initial one.[118] Symptoms may be more severe and changes in neurophysiology can occur with the third and subsequent concussions.[65] As of 2006, studies had conflicting findings on whether athletes have longer recovery times after repeat concussions and whether cumulative effects such as impairment in cognition and memory occur.[34]
Cumulative effects may include chronic traumatic encephalopathy, psychiatric disorders and loss of long-term memory. For example, the risk of developing clinical depression has been found to be significantly greater for retired American football players with a history of three or more concussions than for those with no concussion history.[119] An experience of three or more concussions is associated with a fivefold greater chance of developing Alzheimer's disease earlier and a threefold greater chance of developing memory deficits.[119]
Chronic traumatic encephalopathy, or "CTE", is an example of the cumulative damage that can occur as the result of multiple concussions or less severe blows to the head. The condition was previously referred to as "dementia pugilistica", or "punch drunk" syndrome, as it was first noted in boxers. The disease can lead to cognitive and physical handicaps such as parkinsonism, speech and memory problems, slowed mental processing, tremor, depression, and inappropriate behavior.[120] It shares features with Alzheimer's disease.[121]
### Second-impact syndrome
Main article: Second-impact syndrome
Second-impact syndrome, in which the brain swells dangerously after a minor blow, may occur in very rare cases.[citation needed] The condition may develop in people who receive second blow days or weeks after an initial concussion before its symptoms have gone away.[22] No one is certain of the cause of this often fatal complication, but it is commonly thought that the swelling occurs because the brain's arterioles lose the ability to regulate their diameter, causing a loss of control over cerebral blood flow.[65] As the brain swells, intracranial pressure rapidly rises.[58] The brain can herniate, and the brain stem can fail within five minutes.[22] Except in boxing, all cases have occurred in athletes under age 20.[48] Due to the very small number of documented cases, the diagnosis is controversial, and doubt exists about its validity.[122] A 2010 Pediatrics review article stated that there is debate whether the brain swelling is due to two separate hits or to just one hit, but in either case, catastrophic football head injuries are three times more likely in high school athletes than in college athletes.[11]
## Epidemiology
Annual incidence of MTBI by age group in Canada[123]
Most cases of traumatic brain injury are concussions. A World Health Organization (WHO) study estimated that between 70 and 90% of head injuries that receive treatment are mild.[3] However, due to under reporting and to the widely varying definitions of concussion and mTBI, it is difficult to estimate how common the condition is.[82] Estimates of the incidence of concussion may be artificially low, for example, due to under reporting. At least 25% of mTBI sufferers fail to get assessed by a medical professional.[47] The WHO group reviewed studies on the epidemiology of mTBI and found a hospital treatment rate of 1–3 per 1000 people, but since not all concussions are treated in hospitals, they estimated that the rate per year in the general population is over 6 per 1000 people.[3]
### Age
Young children have the highest concussion rate among all age groups.[4] However, most people who suffer a concussion are young adults.[112] A Canadian study found that the yearly incidence of mTBI is lower in older age groups (graph at right).[123] Studies suggest males suffer mTBI at about twice the rate of their female counterparts.[3] However, female athletes may be at a higher risk of suffering a concussion than their male counterparts.[124]
### Sports
Up to five percent of sports injuries are concussions.[48] The U.S. Centers for Disease Control and Prevention estimates that 300,000 sports-related concussions occur yearly in the U.S., but that number includes only athletes who lost consciousness.[125] Since loss of consciousness is thought to occur in less than 10% of concussions,[126] the CDC estimate is likely lower than the real number.[125] Sports in which concussion is particularly common include American football, the rugby codes, mma and boxing (a boxer aims to "knock out", i.e. give a mild traumatic brain injury to, the opponent). The injury is so common in the latter that several medical groups have called for a ban on the sport, including the American Academy of Neurology, the World Medical Association, and the medical associations of the UK, the US, Australia, and Canada.[127]
### Workplace
Concussions may also be common and occur in the workplace. According to the US Bureau of Labour Statistics, the most common causes of mTBI-related hospitalizations and deaths from the workplace are falls, force of heavy objects, and vehicular collisions.[128] As a consequence, jobs in the construction, transportation, and natural resource industries (eg. agriculture, fishing, mining) have more elevated mTBI incidence rates ranging from 10-20 cases per 100 000 workers.[128] In particular, as vehicular collisions are the leading cause of workplace mTBI-related injuries, workers from the transportation sector often carry the most risk.[129] Despite these findings, there still remain important gaps in data compilation on workplace-related mTBIs, which has raised questions about increased concussion surveillance and preventive measures in private industry.[129]
## History
The Hippocratic Corpus mentioned concussion.[107]
The Hippocratic Corpus, a collection of medical works from ancient Greece, mentions concussion, later translated to commotio cerebri, and discusses loss of speech, hearing and sight that can result from "commotion of the brain".[107] This idea of disruption of mental function by "shaking of the brain" remained the widely accepted understanding of concussion until the 19th century.[107] In the 10th century, the Persian physician Muhammad ibn Zakarīya Rāzi was the first to write about concussion as distinct from other types of head injury.[53] He may have been the first to use the term "cerebral concussion", and his definition of the condition, a transient loss of function with no physical damage, set the stage for the medical understanding of the condition for centuries.[32]
In the 13th century, the physician Lanfranc of Milan's Chiurgia Magna described concussion as brain "commotion", also recognizing a difference between concussion and other types of traumatic brain injury (though many of his contemporaries did not), and discussing the transience of post-concussion symptoms as a result of temporary loss of function from the injury.[53] In the 14th century, the surgeon Guy de Chauliac pointed out the relatively good prognosis of concussion as compared to more severe types of head trauma such as skull fractures and penetrating head trauma.[53] In the 16th-century, the term "concussion" came into use, and symptoms such as confusion, lethargy, and memory problems were described.[53] The 16th century physician Ambroise Paré used the term commotio cerebri,[32] as well as "shaking of the brain", "commotion", and "concussion".[107]
Guillaume Dupuytren distinguished between concussion and unconsciousness associated with brain contusion.[107]
Until the 17th century, a concussion was usually described by its clinical features, but after the invention of the microscope, more physicians began exploring underlying physical and structural mechanisms.[53] However, the prevailing view in the 17th century was that the injury did not result from physical damage, and this view continued to be widely held throughout the 18th century.[53] The word "concussion" was used at the time to describe the state of unconsciousness and other functional problems that resulted from the impact, rather than a physiological condition.[53] In 1839, Guillaume Dupuytren described brain contusions, which involve many small hemorrhages, as contusio cerebri and showed the difference between unconsciousness associated with damage to the brain parenchyma and that due to concussion, without such injury.[107] In 1941, animal experiments showed that no macroscopic damage occurs in concussion.[107][130]
## Society and culture
### Costs
Due to the lack of a consistent definition, the economic costs of mTBI are not known, but they are estimated to be very high.[131] These high costs are due in part to the large percentage of hospital admissions for head injury that is due to mild head trauma,[84] but indirect costs such as lost work time and early retirement account for the bulk of the costs.[131] These direct and indirect costs cause the expense of mild brain trauma to rival that of moderate and severe head injuries.[132]
### Terminology
The terms mild brain injury, mild traumatic brain injury (mTBI), mild head injury (MHI), and concussion may be used interchangeably;[133][82] although the term "concussion" is still used in sports literature as interchangeable with "MHI" or "mTBI", the general clinical medical literature uses "mTBI" instead, since a 2003 CDC report outlined it as an important strategy.[70][32] In this article, "concussion" and "mTBI" are used interchangeably.
The term "concussion" is from Latin concutere, "to shake violently"[41] or concussus, "action of striking together".[134]
## Research
Minocycline, lithium, and N-acetylcysteine show tentative success in animal models.[135]
Measurement of predictive visual tracking is being studied as a screening technique to identify mild traumatic brain injury. A head-mounted display unit with eye-tracking capability shows a moving object in a predictive pattern for the person to follow with their eyes. People without brain injury will be able to track the moving object with smooth pursuit eye movements and correct trajectory while it is hypothesized that those with mild traumatic brain injury cannot.[136]
### Grading systems
Main article: Concussion grading systems
At least 41 systems measure the severity, or grade, of a mild head injury,[38] and there is little agreement about which is best.[23] In an effort to simplify, the 2nd International Conference on Concussion in Sport, meeting in Prague in 2004, decided that these systems should be abandoned in favor of a 'simple' or 'complex' classification.[137] However, the 2008 meeting in Zurich abandoned the simple versus complex terminology, although the participants did agree to keep the concept that most (80–90%) concussions resolve in a short period (7–10 days) and although the recovery time frame may be longer in children and adolescents.[93][needs update]
In the past, the decision to allow athletes to return to participation was frequently based on the grade of concussion.[citation needed] However, current research and recommendations by professional organizations including the National Athletic Trainers' Association recommend against such use of these grading systems.[citation needed] Currently, injured athletes are prohibited from returning to play before they are symptom-free during both rest and exertion and until results of the neuropsychological tests have returned to pre-injury levels.[citation needed]
Three grading systems have been most widely followed: by Robert Cantu, the Colorado Medical Society, and the American Academy of Neurology.[81] Each employs three grades, as summarized in the following table:[23]
Comparison of historic concussion grading scales – not currently recommended for use by medical professionals Guidelines Grade I Grade II Grade III
Cantu Post-traumatic amnesia <30 minutes, no loss of consciousness Loss of consciousness <5 minutes or amnesia lasting 30 minutes–24 hours Loss of consciousness >5 minutes or amnesia >24 hours
Colorado Medical Society Confusion, no loss of consciousness Confusion, post-traumatic amnesia, no loss of consciousness Any loss of consciousness
American Academy of Neurology Confusion, symptoms last <15 minutes, no loss of consciousness Symptoms last >15 minutes, no loss of consciousness Loss of consciousness (IIIa, coma lasts seconds, IIIb for minutes)
## See also
* Concussions in American football
* Concussion in Rugby Union
* Head injury criterion
* Helmet removal (sports)
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81. ^ a b Cobb S, Battin B (October 2004). "Second-impact syndrome". The Journal of School Nursing. 20 (5): 262–7. doi:10.1177/10598405040200050401. PMID 15469376. S2CID 38321305.
82. ^ a b c d Petchprapai N, Winkelman C (October 2007). "Mild traumatic brain injury: determinants and subsequent quality of life. A review of the literature". The Journal of Neuroscience Nursing. 39 (5): 260–72. doi:10.1097/01376517-200710000-00002. PMID 17966292. S2CID 24802904.
83. ^ Lee LK (August 2007). "Controversies in the sequelae of pediatric mild traumatic brain injury". Pediatric Emergency Care. 23 (8): 580–3, quiz 584–6. doi:10.1097/PEC.0b013e31813444ea. PMID 17726422. S2CID 33766395.
84. ^ a b Benton AL, Levin HS, Eisenberg HM (1989). Mild Head Injury. Oxford [Oxfordshire]: Oxford University Press. pp. v. ISBN 978-0-19-505301-2.
85. ^ van der Naalt J (December 2001). "Prediction of outcome in mild to moderate head injury: a review". Journal of Clinical and Experimental Neuropsychology. 23 (6): 837–51. doi:10.1076/jcen.23.6.837.1018. PMID 11910548. S2CID 146179592.
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87. ^ a b Parikh S, Koch M, Narayan RK (2007). "Traumatic brain injury". International Anesthesiology Clinics. 45 (3): 119–35. doi:10.1097/AIA.0b013e318078cfe7. PMID 17622833. S2CID 46012183.
88. ^ Larner AJ, Barker RJ, Scolding N, Rowe D (2005). The A–Z of Neurological Practice: a Guide to Clinical Neurology. Cambridge, UK: Cambridge University Press. p. 199. ISBN 978-0-521-62960-7.
89. ^ Enniss TM, Basiouny K, Brewer B, Bugaev N, Cheng J, Danner OK, et al. (2018). "Primary prevention of contact sports-related concussions in amateur athletes: a systematic review from the Eastern Association for the Surgery of Trauma". Trauma Surgery & Acute Care Open. 3 (1): e000153. doi:10.1136/tsaco-2017-000153. PMC 6018851. PMID 30023433.
90. ^ Emery CA, Black AM, Kolstad A, Martinez G, Nettel-Aguirre A, Engebretsen L, et al. (June 2017). "What strategies can be used to effectively reduce the risk of concussion in sport? A systematic review". British Journal of Sports Medicine. 51 (12): 978–984. doi:10.1136/bjsports-2016-097452. PMID 28254746. S2CID 36589540.
91. ^ Harmon KG, Drezner JA, Gammons M, Guskiewicz KM, Halstead M, Herring SA, et al. (January 2013). "American Medical Society for Sports Medicine position statement: concussion in sport". British Journal of Sports Medicine. 47 (1): 15–26. doi:10.1136/bjsports-2012-091941. PMID 23243113.
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93. ^ a b c McCrory P, Meeuwisse W, Johnston K, Dvorak J, Aubry M, Molloy M, Cantu R (Jul–Aug 2009). "Consensus statement on concussion in sport: the 3rd International Conference on Concussion in Sport held in Zurich, November 2008". Journal of Athletic Training. 44 (4): 434–48. doi:10.4085/1062-6050-44.4.434. PMC 2707064. PMID 19593427.
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104. ^ Kamins, Joshua; Bigler, Erin; Covassin, Tracey; Henry, Luke; Kemp, Simon; Leddy, John J.; Mayer, Andrew; McCrea, Michael; Prins, Mayumi; Schneider, Kathryn J.; Valovich McLeod, Tamara C. (2017). "What is the physiological time to recovery after concussion? A systematic review". British Journal of Sports Medicine. 51 (12): 935–940. doi:10.1136/bjsports-2016-097464. ISSN 1473-0480. PMID 28455363. S2CID 206883066.
105. ^ Murray ED, Buttner N, Price BH (2012). "Depression and Psychosis in Neurological Practice". In Bradley WG, Daroff RB, Fenichel GM, Jankovic J (eds.). Bradley's neurology in clinical practice. 1 (6th ed.). Philadelphia, PA: Elsevier/Saunders. p. 111. ISBN 978-1-4377-0434-1.
106. ^ Hall RC, Hall RC, Chapman MJ (2005). "Definition, diagnosis, and forensic implications of postconcussional syndrome". Psychosomatics. 46 (3): 195–202. doi:10.1176/appi.psy.46.3.195. PMID 15883140.
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108. ^ Schulz MR, Marshall SW, Mueller FO, Yang J, Weaver NL, Kalsbeek WD, Bowling JM (November 2004). "Incidence and risk factors for concussion in high school athletes, North Carolina, 1996-1999". American Journal of Epidemiology. 160 (10): 937–44. doi:10.1093/aje/kwh304. PMID 15522850.
109. ^ a b Zemek RL, Farion KJ, Sampson M, McGahern C (March 2013). "Prognosticators of persistent symptoms following pediatric concussion: a systematic review". JAMA Pediatrics. 167 (3): 259–65. doi:10.1001/2013.jamapediatrics.216. PMID 23303474.
110. ^ a b Lumba-Brown A, Yeates KO, Sarmiento K, Breiding MJ, Haegerich TM, Gioia GA, et al. (November 2018). "Centers for Disease Control and Prevention Guideline on the Diagnosis and Management of Mild Traumatic Brain Injury Among Children". JAMA Pediatrics. 172 (11): e182853. doi:10.1001/jamapediatrics.2018.2853. PMC 7006878. PMID 30193284.
111. ^ a b Flanagan SR, Hibbard MR, Gordon WA (February 2005). "The impact of age on traumatic brain injury". Physical Medicine and Rehabilitation Clinics of North America. 16 (1): 163–77. doi:10.1016/j.pmr.2004.06.012. PMID 15561549.
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113. ^ Boake C, McCauley SR, Levin HS, Pedroza C, Contant CF, Song JX, et al. (2005). "Diagnostic criteria for postconcussional syndrome after mild to moderate traumatic brain injury". The Journal of Neuropsychiatry and Clinical Neurosciences. 17 (3): 350–6. doi:10.1176/appi.neuropsych.17.3.350. PMID 16179657. Archived from the original on 2006-10-06.
114. ^ Willer B, Leddy JJ (September 2006). "Management of concussion and post-concussion syndrome". Current Treatment Options in Neurology. 8 (5): 415–26. doi:10.1007/s11940-006-0031-9. PMID 16901381. S2CID 15289680.
115. ^ Lumba-Brown A, Yeates KO, Sarmiento K, Breiding MJ, Haegerich TM, Gioia GA, et al. (November 2018). "Centers for Disease Control and Prevention Guideline on the Diagnosis and Management of Mild Traumatic Brain Injury Among Children". JAMA Pediatrics. 172 (11): e182853. doi:10.1001/jamapediatrics.2018.2853. PMC 7006878. PMID 30193284.
116. ^ Klein A (Nov 11, 2017). "Pure oxygen can help concussion". New Scientist. 236 (3151): 10. Bibcode:2017NewSc.236...10K. doi:10.1016/S0262-4079(17)32192-9.
117. ^ Mouzon BC, Bachmeier C, Ojo JO, Acker CM, Ferguson S, Paris D, Ait-Ghezala G, Crynen G, Davies P, Mullan M, Stewart W, Crawford F (January 2018). "Lifelong behavioral and neuropathological consequences of repetitive mild traumatic brain injury". Annals of Clinical and Translational Neurology. 5 (1): 64–80. doi:10.1002/acn3.510. PMC 5771321. PMID 29376093. Lay summary – ScienceDaily.
118. ^ Harmon KG (September 1999). "Assessment and management of concussion in sports". American Family Physician. 60 (3): 887–92, 894. PMID 10498114.
119. ^ a b Cantu RC (August 2007). "Chronic traumatic encephalopathy in the National Football League". Neurosurgery. 61 (2): 223–5. doi:10.1227/01.NEU.0000255514.73967.90. PMID 17762733.
120. ^ Mendez MF (1995). "The neuropsychiatric aspects of boxing". International Journal of Psychiatry in Medicine. 25 (3): 249–62. doi:10.2190/CUMK-THT1-X98M-WB4C. PMID 8567192. S2CID 20238578.
121. ^ Jordan BD (2000). "Chronic traumatic brain injury associated with boxing". Seminars in Neurology. 20 (2): 179–85. doi:10.1055/s-2000-9826. PMID 10946737.
122. ^ McCrory P (July 2001). "Does second impact syndrome exist?". Clinical Journal of Sport Medicine. 11 (3): 144–9. doi:10.1097/00042752-200107000-00004. PMID 11495318.
123. ^ a b Gordon KE, Dooley JM, Wood EP (May 2006). "Descriptive epidemiology of concussion". Pediatric Neurology. 34 (5): 376–8. doi:10.1016/j.pediatrneurol.2005.09.007. PMID 16647998.
124. ^ McKeever CK, Schatz P (2003). "Current issues in the identification, assessment, and management of concussions in sports-related injuries". Applied Neuropsychology. 10 (1): 4–11. doi:10.1207/S15324826AN1001_2. PMID 12734070. S2CID 33825332.
125. ^ a b Langlois JA, Rutland-Brown W, Wald MM (2006). "The epidemiology and impact of traumatic brain injury: a brief overview". The Journal of Head Trauma Rehabilitation. 21 (5): 375–8. doi:10.1097/00001199-200609000-00001. PMID 16983222. S2CID 37525440.
126. ^ Cantu RC (January 1998). "Second-impact syndrome". Clinics in Sports Medicine. 17 (1): 37–44. doi:10.1016/S0278-5919(05)70059-4. PMID 9475969.
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130. ^ Denny-Brown D, Russell WR (December 1940). "Experimental cerebral concussion". The Journal of Physiology. 99 (1): 153. doi:10.1113/jphysiol.1940.sp003887. PMC 1394062. PMID 16995229.
131. ^ a b Borg J, Holm L, Peloso PM, Cassidy JD, Carroll LJ, von Holst H, et al. (February 2004). "Non-surgical intervention and cost for mild traumatic brain injury: results of the WHO Collaborating Centre Task Force on Mild Traumatic Brain Injury". Journal of Rehabilitation Medicine. 36 (43 Suppl): 76–83. doi:10.1080/16501960410023840. PMID 15083872.
132. ^ Kraus JF, Chu LD (2005). "Epidemiology". In Silver JM, McAllister TW, Yudofsky SC (eds.). Textbook of Traumatic Brain Injury. American Psychiatric Pub., Inc. p. 23. ISBN 978-1-58562-105-7.
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## External links
Classification
D
* ICD-10: S06.0
* ICD-10-CM: S06.0X
* ICD-9-CM: 850
* MeSH: D001924
External resources
* MedlinePlus: 000799
* eMedicine: aaem/123 sports/27
* "Facts about Concussion and Brain Injury and Where to Get Help" US Centers for Disease Control and Prevention
* "Concussion in High School Sports" US Centers for Disease Control and Prevention
* 2018 CDC Guideline on MTBI in children
* v
* t
* e
Nonmusculoskeletal injuries of head (head injury) and neck
Intracranial
* see neurotrauma
Extracranial/
facial trauma
eye:
* Black eye
* Eye injury
* Corneal abrasion
ear:
* Perforated eardrum
Either/both
* Penetrating head injury
* v
* t
* e
Neurotrauma
Traumatic brain injury
* Intracranial hemorrhage
* Intra-axial
* Intraparenchymal hemorrhage
* Intraventricular hemorrhage
* Extra-axial
* Subdural hematoma
* Epidural hematoma
* Subarachnoid hemorrhage
* Brain herniation
* Cerebral contusion
* Cerebral laceration
* Concussion
* Post-concussion syndrome
* Second-impact syndrome
* Dementia pugilistica
* Chronic traumatic encephalopathy
* Diffuse axonal injury
* Abusive head trauma
* Penetrating head injury
Spinal cord injury
* Anterior spinal artery syndrome
* Brown-Séquard syndrome
* Cauda equina syndrome
* Central cord syndrome
* Paraplegia
* Posterior cord syndrome
* Spinal cord injury without radiographic abnormality
* Tetraplegia (Quadriplegia)
Peripheral nerves
* Nerve injury
* Peripheral nerve injury
* classification
* Wallerian degeneration
* Injury of accessory nerve
* Brachial plexus injury
* Traumatic neuroma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
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Concussion
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c0006107
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wikipedia
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https://en.wikipedia.org/wiki/Concussion
| 2021-01-18T18:35:32 |
{"mesh": ["D001924"], "icd-9": ["850"], "icd-10": ["S06.0"], "wikidata": ["Q326921"]}
|
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
The meningoceles associated with this disorder may damage the nerves that spread from the spine to the rest of the body. Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Prickling or tingling sensations (paresthesias), progressive stiffness and weakness in the legs (paraparesis), and back pain can also occur. Delayed development of motor skills in infancy, such as sitting and crawling, often occurs in this disorder; intelligence is usually unaffected.
Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible) joints that can lead to dislocations, and protrusion of organs through gaps in muscles (hernias). Spinal abnormalities are also common, including side-to-side curvature of the spine (scoliosis), abnormal joining (fusion) of two or more vertebrae, and vertebrae that are unusually shaped (scalloped).
People with lateral meningocele syndrome typically have a particular pattern of facial features that may include high arched eyebrows, widely spaced eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have a flat appearance of the middle of the face and cheekbones (midface and malar hypoplasia); low-set ears; a long area between the nose and mouth (long philtrum); a thin upper lip; a high, narrow roof of the mouth, occasionally with an abnormal opening (a cleft palate); a small jaw (micrognathia); coarse hair; and a low hairline at the back of the neck.
Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids into the esophagus (called gastroesophageal reflux or GERD).
## Frequency
Lateral meningocele syndrome is a very rare disorder. Only a small number of cases have been described in the medical literature.
## Causes
Lateral meningocele syndrome is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the cell membrane, and another end (the extracellular end) that projects from the outer surface of the cell. The NOTCH3 protein is called a receptor protein because certain other proteins, called ligands, attach (bind) to the extracellular end of NOTCH3, fitting like a key into a lock. This binding causes detachment of the intracellular end of the NOTCH3 protein, called the NOTCH3 intracellular domain, or NICD. The NICD enters the cell nucleus and helps control the activity (transcription) of other genes.
The NOTCH3 gene mutations that cause lateral meningocele syndrome occur at the end of the gene in a region known as exon 33. These gene mutations result in a NOTCH3 protein with an abnormally short (truncated) NICD. The shortened protein is missing the portion that normally causes the breakdown of the NICD after it has performed its function in the cell nucleus and is no longer needed. As a result, the presence of the NICD in the cell is prolonged, and the protein continues to affect the activity of other genes. However, the result of this prolonged NICD activity and its connection to the specific features of lateral meningocele syndrome are not well understood.
### Learn more about the gene associated with Lateral meningocele syndrome
* NOTCH3
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Occasionally, an affected person inherits the mutation from one affected parent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
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Lateral meningocele syndrome
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c1851710
| 7,938 |
medlineplus
|
https://medlineplus.gov/genetics/condition/lateral-meningocele-syndrome/
| 2021-01-27T08:25:08 |
{"gard": ["9873"], "mesh": ["C537878"], "omim": ["130720"], "synonyms": []}
|
Splitting (also called black-and-white thinking or all-or-nothing thinking) is the failure in a person's thinking to bring together the dichotomy of both positive and negative qualities of the self and others into a cohesive, realistic whole. It is a common defense mechanism.[1] The individual tends to think in extremes (i.e., an individual's actions and motivations are all good or all bad with no middle ground).
Splitting was first described by Ronald Fairbairn in his formulation of object relations theory;[2] it begins as the inability of the infant to combine the fulfilling aspects of the parents (the good object) and their unresponsive aspects (the unsatisfying object) into the same individuals, instead seeing the good and bad as separate. In psychoanalytic theory this functions as a defense mechanism.[3]
## Contents
* 1 Relationships
* 2 Borderline personality disorder
* 3 Narcissistic personality disorder
* 4 Depression
* 5 Janet, Bleuler and Freud
* 6 Melanie Klein
* 7 Otto Kernberg
* 8 Horizontal and vertical
* 9 Transference
* 10 See also
* 11 References
## Relationships[edit]
Splitting creates instability in relationships because one person can be viewed as either personified virtue or personified vice at different times, depending on whether they gratify the subject's needs or frustrate them. This, along with similar oscillations in the experience and appraisal of the self, leads to chaotic and unstable relationship patterns, identity diffusion, and mood swings.[4] The therapeutic process can be greatly impeded by these oscillations, because the therapist too can come to be seen as all good or all bad. To attempt to overcome the negative effects on treatment outcome, constant interpretations by the therapist are needed.[5]
Splitting contributes to unstable relationships and intense emotional experiences. Splitting is common during adolescence, but is regarded as transient. Splitting has been noted especially with persons diagnosed with borderline personality disorder.[6][7] Treatment strategies have been developed for individuals and groups based on dialectical behavior therapy, and for couples.[8] There are also self-help books on related topics such as mindfulness and emotional regulation that claim to be helpful for individuals who struggle with the consequences of splitting.[9]
## Borderline personality disorder[edit]
Main article: Borderline personality disorder
Splitting is a relatively common defense mechanism for people with borderline personality disorder.[7] One of the DSM IV-TR criteria for this disorder is a description of splitting: "a pattern of unstable and intense interpersonal relationships characterized by alternating between extremes of idealization and devaluation".[10][11] In psychoanalytic theory, people with borderline personality disorder are not able to integrate the good and bad images of both self and others, resulting in a bad representation which dominates the good representation.[12]
## Narcissistic personality disorder[edit]
Main article: Narcissistic personality disorder
People matching the diagnostic criteria for narcissistic personality disorder also use splitting as a central defense mechanism. Most often narcissists do this as an attempt to stabilize their sense of self-positivity in order to preserve their self-esteem, by perceiving themselves as purely upright or admirable and others who do not conform to their will or values as purely wicked or contemptible.[13]
The cognitive habit of splitting also implies the use of other related defense mechanisms, namely idealization and devaluation, which are preventive attitudes or reactions to narcissistic rage and narcissistic injury.[12]
## Depression[edit]
In depression, exaggerated all-or-nothing thinking can form a self-reinforcing cycle: these thoughts might be called emotional amplifiers because, as they go around and around, they become more intense. Typical all-or-nothing thoughts:
* My efforts are either a success or they are an abject failure
* Other people are either all good or all bad.
* I am either all good or all bad.
* If you're not with us, you're against us.[14]
## Janet, Bleuler and Freud[edit]
Main articles: Pierre Janet, Eugen Bleuler, and Sigmund Freud
Splitting of consciousness ("normal self" vs. "secondary self") was first described by Pierre Janet in De l'automatisme psychologique (1889).[15][16] His ideas were extended by Bleuler (who in 1908 coined the word schizofrenia[17] from the Ancient Greek skhízō [σχῐ́ζω, "to split"] and phrḗn [φρήν, "mind"]) and Freud[18] to explain the splitting (German: Spaltung)[19] of consciousness—not (with Janet) as the product of innate weakness, but as the result of inner conflict.[20] With the development of the idea of repression, splitting moved to the background of Freud's thought for some years, being largely reserved for cases of double personality.[21] However, his late work saw a renewed interest in how it was "possible for the ego to avoid a rupture... by effecting a cleavage or division of itself",[22] a theme which was extended in his Outline of Psycho-Analysis (1940a [1938]) beyond fetishism to the neurotic in general.[23]
His daughter Anna Freud explored how, in healthy childhood development, a splitting of loving and aggressive instincts could be avoided.[24]
## Melanie Klein[edit]
See also: Melanie Klein: thought and Melanie Klein: reparation
There was, however, from early on, another use of the term "splitting" in Freud, referring rather to resolving ambivalence "by splitting the contradictory feelings so that one person is only loved, another one only hated ... the good mother and the wicked stepmother in fairy tales".[25] Or, with opposing feelings of love and hate, perhaps "the two opposites should have been split apart and one of them, usually the hatred, has been repressed".[26] Such splitting was closely linked to the defence of "isolation ... The division of objects into congenial and uncongenial ones ... making 'disconnections'."[27]
It was the latter sense of the term that was predominantly adopted and exploited by Melanie Klein. After Freud, "the most important contribution has come from Melanie Klein, whose work enlightens the idea of 'splitting of the object' (Objektspaltung)[28] (in terms of 'good/bad' objects)".[29] In her object relations theory, Klein argues that "the earliest experiences of the infant are split between wholly good ones with 'good' objects and wholly bad experiences with 'bad' objects",[30] as children struggle to integrate the two primary drives, love and hate, into constructive social interaction. An important step in childhood development is the gradual depolarization of these two drives.
At what Klein called the paranoid-schizoid position, there is a stark separation of the things the child loves (good, gratifying objects) and the things the child hates (bad, frustrating objects), "because everything is polarised into extremes of love and hate, just like what the baby seems to experience and young children are still very close to."[31] Klein refers to the good breast and the bad breast as split mental entities, resulting from the way "these primitive states tend to deconstruct objects into 'good' and 'bad' bits (called 'part-objects')".[32] The child sees the breasts as opposite in nature at different times, although they actually are the same, belonging to the same mother. As the child learns that people and objects can be good and bad at the same time, he or she progresses to the next phase, the depressive position, which "entails a steady, though painful, approximation towards the reality of oneself and others":[33] integrating the splits and "being able to balance [them] out ... are tasks that continue into early childhood and indeed are never completely finished."[34]
However, Kleinians also utilize Freud's first conception of splitting, to explain the way "In a related process of splitting, the person divides his own self. This is called 'splitting of the ego'."[19][35] Indeed, Klein herself maintained that "the ego is incapable of splitting the object—internal or external—without a corresponding splitting taking place within the ego".[36] Arguably at least, by this point "the idea of splitting does not carry the same meaning for Freud and for Klein": for the former, "the ego finds itself 'passively' split, as it were. For Klein and the post-Kleinians, on the other hand, splitting is an 'active' defence mechanism".[37] As a result, by the close of the century "four kinds of splitting can be clearly identified, among many other possibilities" for post-Kleinians: "a coherent split in the object, a coherent split in the ego, a fragmentation of the object, and a fragmentation of the ego."[38]
## Otto Kernberg[edit]
Main article: Otto Kernberg
In the developmental model of Otto Kernberg, the overcoming of splitting is also an important developmental task.[39] The child has to learn to integrate feelings of love and hate. Kernberg distinguishes three different stages in the development of a child with respect to splitting:
1. The child does not experience the self and the object, nor the good and the bad as different entities.
2. Good and bad are viewed as different. Because the boundaries between the self and the other are not stable yet, the other as a person is viewed as either all good or all bad, depending on their actions. This also means that thinking about another person as bad implies that the self is bad as well, so it's better to think about the caregiver as a good person, so the self is viewed as good too. "Bringing together extremely opposite loving and hateful images of the self and of significant others would trigger unbearable anxiety and guilt."[40]
3. Splitting – "the division of external objects into 'all good' or 'all bad'"[41] – begins to be resolved when the self and the other can be seen as possessing both good and bad qualities. Having hateful thoughts about the other does not mean that the self is all hateful and does not mean that the other person is all hateful either.
If a person fails to accomplish this developmental task satisfactorily, borderline pathology can emerge. "In the borderline personality organization", Kernberg found 'dissociated ego states that result from the use of "splitting" defences'.[42] His therapeutic work then aimed at "the analysis of the repeated and oscillating projections of unwanted self and object representations onto the therapist" so as to produce "something more durable, complex and encompassing than the initial, split-off and polarized state of affairs".[43]
## Horizontal and vertical[edit]
Heinz Kohut has emphasized in his self psychology the distinction between horizontal and vertical forms of splitting.[44] Traditional psychoanalysis saw repression as forming a horizontal barrier between different levels of the mind – so that for example an unpleasant truth might be accepted superficially but denied in a deeper part of the psyche.[45] Kohut contrasted with this vertical fractures of the mind into two parts with incompatible attitudes separated by mutual disavowal.[46]
## Transference[edit]
Main article: Transference
It has been suggested that interpretation of the transference "becomes effective through a sort of splitting of the ego into a reasonable, judging portion and an experiencing portion, the former recognizing the latter as not appropriate in the present and as coming from the past".[47] Clearly, "in this sense, splitting, so far from being a pathological phenomenon, is a manifestation of self-awareness".[48] Nevertheless, "it remains to be investigated how this desirable 'splitting of the ego' and 'self-observation' are to be differentiated from the pathological cleavage ... directed at preserving isolations".[47]
## See also[edit]
* Ambivalence
* Betrayal
* Black-and-white dualism
* Cognitive distortion
* Cognitive restructuring, a therapy that can treat this
* Compartmentalization
* Dehumanization
* Dialogical self
* Dissociative identity disorder
* Emotional detachment
* Erik Erikson
* False dilemma
* Love–hate relationship
* Madonna–whore complex
* My way or the highway
* Paranoid anxiety
* Psychoanalytic concepts of love and hate
* Split subject
* Triangulation (psychology)
* You're either with us, or against us
## References[edit]
1. ^ Carser, D. (1979). "The defense mechanism of splitting: Developmental origins, effects on staff, recommendations for nursing care". Journal of Psychiatric Nursing and Mental Health Services. 17 (3): 21–8. doi:10.3928/0279-3695-19790301-04. PMID 224184.
2. ^ Rubens, R. L. (1996). "The unique origins of Fairbairn's Theories". Psychoanalytic Dialogues: The International Journal of Relational Perspectives. 6 (3): 413–435. doi:10.1080/10481889609539128.
3. ^ Gabbard, Glen O.; Litowitz, Bonnie E.; Williams, Paul, eds. (2011). Textbook of Psychoanalysis (2nd ed.). American Psychiatric Pub. p. 96. ISBN 978-1-58562-410-2.
4. ^ Scaife, Joyce (2012). Deciding Children's Futures. London, United Kingdom: Routledge. p. 249. ISBN 978-0415596343.
5. ^ Gould, J. R., Prentice, N. M. & Ainslie, R. C. (1996). "The splitting index: construction of a scale measuring the defense mechanism of splitting". Journal of Personality Assessment 66 (2), 414–430.
6. ^ What is Borderline personality disorder – Splitting.
7. ^ a b Mary C. Zanarini; Jolie L. Weingeroff & Frances R. Frankenburg (April 2009). "Defense Mechanisms Associated with Borderline Personality Disorder". J Pers Disord. 23 (2): 113–121. doi:10.1521/pedi.2009.23.2.113. PMC 3203733. PMID 19379090.
8. ^ Siegel, J. P. Repairing Intimacy (1992) and Linehan, M. (1993).
9. ^ Jacobs, B. 2004, Siegel, J. 2010.
10. ^ "What is Borderline Personality Disorder?". Borderline Personality Disorder Resource Center at New York-Presbyterian Hospital. Retrieved 2013-04-27.
11. ^ "Diagnostic criteria for 301.83 Borderline Personality Disorder". DSM IV – TR. Retrieved 14 April 2013.
12. ^ a b Siegel, J. P. (2006). "Dyadic splitting in partner relational disorders". Journal of Family Psychology, 20 (3), 418–422.
13. ^ Abdennur, the Narcissistic Principle of Equivalence, pp. 88–89.
14. ^ Gilbert, p. 63 and p. 98.
15. ^ Janet, Pierre (1899). De l'Automatisme Psychologique [Of Psychological Automatism] (in French). p. 317.
16. ^ Dermot Moran, Rodney K. B. Parker (eds.), Studia Phaenomenologica: Vol. XV / 2015 – Early Phenomenology, Zeta Books, p. 234.
17. ^ Bleuler, Eugen (1908). "Die Prognose der Dementia Praecox — Schizophreniegruppe". Allgemeine Zeitschrift für Psychiatrie (in German). 65: 436–434.
18. ^ Sigmund Freud, Five Lectures on Psycho-Analysis (London 1995) p. 25.
19. ^ a b Laplanche, Jean; Pontalis, Jean-Bertrand (1988) [1973]. "Splitting of the Ego (pp. 427–9)". The Language of Psycho-analysis (reprint, revised ed.). London: Karnac Books. ISBN 978-0-946-43949-2.
20. ^ Sigmund Freud, Five Lectures on Psycho-Analysis (London 1995) p. 33.
21. ^ Sigmund Freud, On Metapsychology (Middlesex 1987) pp. 53–4.
22. ^ Sigmund Freud, On Psychopathology (Middlesex 1987) p. 217.
23. ^ Angela Richards, "Editor's Note", Metapsychology p. 460.
24. ^ E. Young-Bruehl (2008). Anna Freud. p. 322.
25. ^ Fenichel, Neurosis p. 157.
26. ^ Sigmund Freud, Case Histories II (London 1991) p. 119.
27. ^ Fenichel, Neurosis p. 158.
28. ^ Laplanche, Jean; Pontalis, Jean-Bertrand (1973). "Splitting of the Object (p. 430)".
29. ^ T. Bokanowski and S. Lewkowicz, On Freud's "Splitting of the ego in the process of defense" (London 2009) p. x.
30. ^ Richard Appignanesi ed., Introducing Melanie Klein (Cambridge 2006) np [173].
31. ^ Robin Skynner/John Cleese, Families and how to survive them (London 1994) p. 98.
32. ^ Appignanesi, Klein p. 123.
33. ^ Appignanesi, Klein p. 131.
34. ^ Skinner, Families p. 98.
35. ^ Appignanesi, Klein p. 125.
36. ^ Quoted in Paul Holmes, The inner world outside (1992) p. 117.
37. ^ Jean-Michel Quinodoz, Reading Freud (London 2005) p. 252.
38. ^ Quoting Robert Hinshelwood, in Quinodoz, Reading Freud p. 252.
39. ^ Mitchell, Stephen (1995). Freud and Beyond: A History of Modern Psychoanalytic Thought. New York: Basic Books. ISBN 978-0-465-01405-7.
40. ^ Otto F. Kernberg, Borderline Conditions and Pathological Narcissism (London 1990) p. 165.
41. ^ Kernberg, Borderline p. 29
42. ^ Paul Brinich and Christopher Shelley, The Self and Personality Structure (Buckingham 2002) p 51
43. ^ Brinich, Self p. 51.
44. ^ H. Kohut, The Analysis of the Self (1971) p. 79
45. ^ O. Fenichel, The Psychoanalytic Theory of Neurosis (1946) p. 145
46. ^ H. Kohut, The Analysis of the Self (1971) p. 177 and p. 185
47. ^ a b Fenichel, Neurosis p. 570.
48. ^ Charles Rycroft, A Critical Dictionary of Psychoanalysis (London 1995) p. 174
* v
* t
* e
Borderline personality disorder
General
* Dimensional models of personality disorders
* Impulse control disorders
* Trauma model of mental disorders
* Misdiagnosis of borderline personality disorder
Symptoms and behaviors
* Dissociation
* Eating disorders
* Emotional dysregulation
* Feelings of emptiness
* Hypersexuality
* Idealization and devaluation
* Impulsivity
* Mood swings
* Projection
* Self-harm
* Splitting
* Suicidal ideation
Management
* Dialectical behavior therapy
* Dynamic deconstructive psychotherapy
* McLean Hospital
* Mentalization-based treatment
* Schema therapy
* Social psychiatry
* Transference focused psychotherapy
Family challenges
* BPDFamily (support group)
* Codependency
* Complex PTSD
* Emotional blackmail
* Family estrangement
* Personal boundaries
* v
* t
* e
Narcissism
Types
* Collective
* Egomania
* Flying monkeys
* Healthy
* Malignant
* Narcissistic personality disorder
* Spiritual
* Workplace
Characteristics
* Betrayal
* Boasting
* Egocentrism
* Egotism
* Empathy (lack of)
* Envy
* Entitlement (exaggerated sense of)
* Fantasy
* Grandiosity
* Hubris
* Magical thinking
* Manipulative
* Narcissistic abuse
* Narcissistic elation
* Narcissistic rage and narcissistic injury
* Narcissistic mortification
* Narcissistic supply
* Narcissistic withdrawal
* Perfectionism
* Self-esteem
* Self-righteousness
* Shamelessness
* Superficial charm
* Superiority complex
* True self and false self
* Vanity
Defences
* Denial
* Idealization and devaluation
* Distortion
* Projection
* Splitting
Cultural phenomena
* Control freak
* Don Juanism
* Dorian Gray syndrome
* My way or the highway
* Selfie
Related articles
* Codependency
* Counterdependency
* Dark triad
* Ego ideal
* "Egomania" (film)
* Egotheism
* Empire-building
* God complex
* History of narcissism
* Messiah complex
* Micromanagement
* Narcissism of small differences
* Narcissistic leadership
* Narcissistic parent
* Narcissistic Personality Inventory
* Narcissus (mythology)
* On Narcissism
* Sam Vaknin
* Self-love
* Self-serving bias
* Spoiled child
* The Culture of Narcissism
* Workplace bullying
* v
* t
* e
Defence mechanisms
Level 1: Pathological
* Delusional projection
* Denial or abnegation (German: Verneinung)
* Psychotic denial or disavowal (German: Verleugnung)
* Distortion
* Foreclosure or repudiation (German: Verwerfung)
* Extreme projection
* Identification with the Aggressor
* Splitting
Level 2: Immature
* Acting out
* Fantasy
* Idealization
* Introjection
* Passive-aggression
* Projection
* Projective identification
* Somatization
Level 3: Neurotic
* Displacement
* Dissociation
* Hypochondriasis
* Intellectualization
* Isolation
* Rationalization
* Reaction formation
* Regression
* Repression (German: Verdrängung)
* Undoing
Level 4: Mature
* Altruism
* Anticipation
* Humour
* Identification
* Sublimation
* Suppression
Other mechanisms
* Compartmentalization
* Defensive pessimism
* Exaggeration
* Minimisation
* Postponement of affect
See also
* Narcissistic defences
* Censorship (psychoanalysis)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Splitting (psychology)
|
None
| 7,939 |
wikipedia
|
https://en.wikipedia.org/wiki/Splitting_(psychology)
| 2021-01-18T19:09:51 |
{"wikidata": ["Q1325774"]}
|
Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised blood flow to the skin.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Aplasia cutis congenita
|
c0282160
| 7,940 |
gard
|
https://rarediseases.info.nih.gov/diseases/5835/aplasia-cutis-congenita
| 2021-01-18T18:02:04 |
{"mesh": ["D004476"], "omim": ["107600"], "orphanet": ["1114"], "synonyms": ["Aplasia cutis congenita nonsyndromic", "Congenital defect of skull and scalp", "Scalp defect congenital"]}
|
Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.
Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.
Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).
## Frequency
The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada.
## Causes
Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin-1 and exostosin-2 complex modifies a protein called heparan sulfate so it can be used by the cell.
When there is a mutation in exostosin-1 or exostosin-2, heparan sulfate cannot be processed correctly and is nonfunctional. Although heparan sulfate is involved in many bodily processes, it is unclear how the lack of this protein contributes to the development of osteochondromas.
If the condition is caused by a mutation in the EXT1 gene it is called hereditary multiple osteochondromas type 1. A mutation in the EXT2 gene causes hereditary multiple osteochondromas type 2. While both type 1 and type 2 involve multiple osteochondromas, mutations in the EXT1 gene likely account for 55 to 75 percent of all cases of hereditary multiple osteochondromas, and the severity of symptoms associated with osteochondromas seems to be greater in type 1.
Researchers estimate that about 15 percent of people with hereditary multiple osteochondromas have no mutation in either the EXT1 or the EXT2 gene. It is not known why multiple osteochondromas form in these individuals.
### Learn more about the genes associated with Hereditary multiple osteochondromas
* EXT1
* EXT2
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Hereditary multiple osteochondromas
|
c0015306
| 7,941 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas/
| 2021-01-27T08:25:41 |
{"gard": ["7035"], "mesh": ["D005097"], "omim": ["133700", "133701"], "synonyms": []}
|
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; many are never able to walk. In infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants can be excessively sleepy (hypersomnolent), have a low body temperature (hypothermia), and have short pauses in breathing (apnea) or episodes of abnormally slow breathing (hypoventilation). These breathing problems usually go away after age 1.
Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually begin before age 5 with uncontrolled muscle jerks (myoclonus). Other types of seizures can develop, such as generalized tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. In people with PURA syndrome, seizures are often difficult to control.
Other features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. Some affected individuals have symptoms of a hormonal problem, such as early sexual development (precocious puberty) or low levels of vitamin D (which is a hormone).
## Frequency
PURA syndrome is a rare condition affecting at least 70 individuals. It is estimated to account for fewer than 1 percent of cases of developmental delay.
## Causes
PURA syndrome is caused by mutations in the PURA gene, which provides instructions for making a protein called Pur-alpha (Purα). This protein has multiple roles in cells, including controlling the activity of genes (gene transcription) and aiding in the copying (replication) of DNA. The Purα protein is especially important for normal brain development. Purα helps direct the growth and division of nerve cells (neurons). It may also be involved in the formation or maturation of myelin, the protective substance that covers nerves and promotes the efficient transmission of nerve impulses.
Mutations in the PURA gene are thought to lead to a reduced amount of functional Purα protein. Although it is not understood how a partial loss of Purα function leads to the signs and symptoms of PURA syndrome, researchers suspect that it may alter normal brain development and impair the function of neurons, leading to developmental problems and seizures in people with the condition.
### Learn more about the gene associated with PURA syndrome
* PURA
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Most cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual’s parent or in early embryonic development. 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
|
PURA syndrome
|
c4015357
| 7,942 |
medlineplus
|
https://medlineplus.gov/genetics/condition/pura-syndrome/
| 2021-01-27T08:24:33 |
{"gard": ["12836"], "omim": ["616158"], "synonyms": []}
|
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
## Epidemiology
MMIHS prevalence is unknown but the disease has been reported in 230 patients, of which 71% are females.
## Clinical description
Enlarged and nonobstructed bladder is the first manifestation of MMIHS and can be detected prenatally. It results in abdominal distension, which is an early constant finding. Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium. Patients show various visceral anomalies of the digestive tract including microcolon, malrotation of the gut, intestinal generalized hypo- or aperistalsis and short bowel. Along with the severe megacystis, malformations of the urinary tract with renal dysplasia (see this term), hydronephrosis, ureteral dilatation and hydroureter are frequently described. Undescended testis or bilateral streak gonads, cardiac anomalies, umbilical hernia or omphalocele have been reported in some cases.
## Etiology
Etiology of MMIHS is unknown but various hypotheses have been proposed to describe the pathogenesis including genetic, neurogenic, myogenic and hormonal origin. The 15q11.2 region might be associated with MMIHS.
## Diagnostic methods
Postnatally, MMIHS is mainly diagnosed by clinical presentation and supportive radiological and surgical findings. Histologically, vacuolar degeneration in the center of smooth muscle of the bowel and bladder has been described.
## Differential diagnosis
This disorder should not be mistaken for a milder and autosomal dominant disorder, called chronic idiopathic intestinal pseudo-obstruction, in which megacystis is also present, or for prune belly syndrome (see these terms).
## Antenatal diagnosis
Prenatal diagnosis of MMIHS is mostly based on fetal ultrasound, revealing enlarged urinary bladder and hydronephrosis. Recent reports have proposed prenatal magnetic resonance imaging (MRI) in combination with analysis of enzymatic changes to contribute to prenatal diagnosis of MMIHS. The enlarged bladder can be observed from the second trimester and polyhydramnios from the third.
## Genetic counseling
MMIHS has been suggested to have an autosomal recessive inheritance pattern so genetic counseling remains difficult, to date.
## Management and treatment
There is no curative treatment for MMIHS. Various surgical interventions including gastrostomy, jejunostomy and vesicostomy have been reported and have been generally unsuccessful in most patients. Several multivisceral transplantations have also been reported. In the majority of patients total parenteral nutrition is required.
## Prognosis
Survival in MMIHS seems to have improved, thanks to more specialized care, innovations in parenteral nutrition, and introduction of multivisceral transplantation. However, prognosis and life expectancy of this generally fatal disease remains poor. Death is mainly caused by sepsis, malnutrition or multiple organ failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Megacystis-microcolon-intestinal hypoperistalsis syndrome
|
c1608393
| 7,943 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2241
| 2021-01-23T18:57:17 |
{"gard": ["3442"], "mesh": ["C536138"], "omim": ["249210"], "umls": ["C1608393"], "icd-10": ["Q43.8"], "synonyms": ["Berdon syndrome", "MMIHS", "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome"]}
|
A number sign (#) is used with this entry because X-linked recessive nephrolithiasis with renal failure is caused by mutation in the CLCN5 gene (300008) on chromosome Xp11.22.
Description
X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.
Clinical Features
Frymoyer et al. (1991) reported a large kindred living in the St. Lawrence valley of northern New York, descendants of 19th century Irish immigrants, with nephrolithiasis inherited in an X-linked recessive pattern. Nine affected males had onset in childhood of calcium nephrolithiasis and proteinuria, with progression to nephrocalcinosis and renal insufficiency. Renal biopsies showed tubular atrophy, interstitial fibrosis, and glomerulosclerosis. Renal biopsies were abnormal even in younger members, but abnormalities in the renal excretion of calcium, phosphate, potassium, and uric acid were found only in affected adults. In 1 patient who had a renal transplant for 7 years, the disease had not recurred. Frymoyer et al. (1992) pointed out that patients with X-linked recessive nephrocalcinosis differed from Dent disease by having normal growth, no evidence of bone disease, and sometimes absence of hypercalciuria despite the presence of nephrocalcinosis, recurrent calcium nephrolithiasis, or both. Furthermore, all could acidify their urine to a pH below 5.6.
Mapping
In the family reported by Frymoyer et al. (1991) as having X-linked recessive nephrolithiasis, Scheinman et al. (1993) found linkage to chromosome Xp11.22 (maximum lod score of 5.91 at marker DXS255). Multilocus analysis indicated that the mutant gene was distal to DXS255 but proximal to the DMD (300377) locus.
Molecular Genetics
In affected members from 2 unrelated North American families with X-linked recessive nephrolithiasis, Lloyd et al. (1996) identified 2 different mutations in the CLCN5 gene (300008.0005; 300008.0006).
In affected members of a kindred with X-linked recessive nephrolithiasis, Schurman et al. (1998) identified a mutation in the CLCN5 gene (300008.0011). The disease had occurred in males in first, third, and fifth generations, with the carrier females in the intervening second and fourth generations. Individuals at risk were screened with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium.
Nomenclature
Scheinman et al. (1993) suggested the symbol 'XRN' (for X-linked recessive nephrolithiasis) for this disorder; NPHL1 was the locus symbol assigned by the human gene nomenclature committee.
INHERITANCE \- X-linked recessive GENITOURINARY Kidneys \- Proximal renal tubule defect \- Nephrocalcinosis \- Nephrolithiasis \- Renal insufficiency, progressive \- Renal failure in adulthood \- Renal biopsy shows tubular atrophy \- Interstitial fibrosis \- Glomerulosclerosis LABORATORY ABNORMALITIES \- Low-molecular-weight proteinuria \- Hypercalciuria \- Microscopic hematuria MISCELLANEOUS \- Variable phenotypic severity \- Female carriers may have asymptomatic proteinuria or hypercalciuria \- Part of 'Dent disease complex' (see 300009 ) MOLECULAR BASIS \- Caused by mutation in the chloride channel 5 gene (CLCN5, 300008.0005 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
|
c1839874
| 7,944 |
omim
|
https://www.omim.org/entry/310468
| 2019-09-22T16:17:34 |
{"mesh": ["C545036"], "omim": ["310468"], "orphanet": ["1652", "93622"], "synonyms": ["Alternative titles", "NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1", "UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1", "NEPHROLITHIASIS 1"]}
|
A number sign (#) is used with this entry because autosomal dominant deafness-64 (DFNA64) is caused by heterozygous mutation in the DIABLO gene (605219) on chromosome 12q24.
Clinical Features
Cheng et al. (2011) reported a large 6-generation Chinese family from Henan province with nonsyndromic sensorineural hearing loss. The age at onset ranged between 12 and 30 years (average age of 22). The severity of hearing impairment ranged from severe to mild and was correlated with age. Overall, the audiograms had a flat contour. High frequency tinnitus was reported in 73% of affected individuals at the onset of hearing loss.
Inheritance
The transmission pattern of hearing loss in the family reported by Cheng et al. (2011) was consistent with autosomal dominant inheritance.
Molecular Genetics
By genomewide linkage analysis followed by candidate gene sequencing of a large Chinese family with nonsyndromic hearing loss, Cheng et al. (2011) identified a heterozygous mutation in the DIABLO gene (S126L; 605219.0001). The disorder was designated DFNA64. In vitro functional expression studies in HeLa cells showed that the mutant protein enhanced the degradation of mutant and wildtype DIABLO via heterodimerization. Cells expressing the mutant protein showed increased susceptibility to calcium-induced loss of mitochondrial potential compared to wildtype, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction. A decrease in wildtype protein levels did not yield similar findings, suggesting that the existence of mutant DIABLO leads to activation of a degradation machinery for constant clearance of aberrant proteins.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Hearing loss, sensorineural \- High-frequency tinnitus at onset \- Flat audiogram MISCELLANEOUS \- Onset between 12 and 30 years (average 22) \- Progressive disorder \- One Chinese family has been reported (as of August 2011) MOLECULAR BASIS \- Caused by mutation in the direct IAP-binding protein with low pI (DIABLO, 605219.0001 ) ▲ 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
|
DEAFNESS, AUTOSOMAL DOMINANT 64
|
c3279948
| 7,945 |
omim
|
https://www.omim.org/entry/614152
| 2019-09-22T15:56:26 |
{"doid": ["0110585"], "omim": ["614152"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "Autosomal dominant non-syndromic neurosensory deafness type DFNA", "Autosomal dominant non-syndromic neurosensory hearing loss type DFNA", "Autosomal dominant non-syndromic sensorineural hearing loss type DFNA"]}
|
Goitre
Other namesGoiter
Diffuse hyperplasia of the thyroid
SpecialtyEndocrinology
A goitre, or goiter, is a swelling in the neck resulting from an enlarged thyroid gland.[1][2] A goitre can be associated with a thyroid that is not functioning properly.
Worldwide, over 90% of goitre cases are caused by iodine deficiency.[3] The term is from the Latin gutturia, meaning throat. Most goitres are of a benign nature.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Types
* 4 Treatment
* 5 Epidemiology
* 6 History
* 7 Society and culture
* 7.1 Notable cases
* 7.2 Heraldry
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
A goitre can present as a palpable or visible enlargement of the thyroid gland at the base of the neck. A goitre, if associated with hypothyroidism or hyperthyroidism, may be present with symptoms of the underlying disorder. For hyperthyroidism, the most common symptoms are associated with adrenergic stimulation: tachycardia (increased heart rate), palpitations, nervousness, tremor, increased blood pressure and heat intolerance. Clinical manifestations are often related to hypermetabolism, (increased metabolism), excessive thyroid hormone, an increase in oxygen consumption, metabolic changes in protein metabolism, immunologic stimulation of diffuse goitre, and ocular changes (exophthalmos).[4] Hypothyroid people commonly have poor appetite, cold intolerance, constipation, lethargy and may undergo weight gain. However, these symptoms are often non-specific and make diagnosis difficult.[citation needed]
* Goitre Class I
* Goitre Class II
* Goitre Class III
## Causes[edit]
Worldwide, the most common cause for goitre is iodine deficiency, commonly seen in countries that scarcely use iodized salt. Selenium deficiency is also considered a contributing factor. In countries that use iodized salt, Hashimoto's thyroiditis is the most common cause.[5] Goitre can also result from cyanide poisoning; this is particularly common in tropical countries where people eat the cyanide-rich cassava root as the staple food.[6]
Cause Pathophysiology Resultant thyroid activity Growth pattern Treatment Incidence and prevalence Prognosis
Iodine deficiency Hyperplasia of thyroid to compensate for decreased efficacy Can cause hypothyroidism Diffuse Iodine Constitutes over 90% cases of goitre worldwide[3] Increased size of thyroid may be permanent if untreated for around five years
Congenital hypothyroidism Inborn errors of thyroid hormone synthesis Hypothyroidism
Goitrogen ingestion
Adverse drug reactions
Hashimoto's thyroiditis Autoimmune disease in which the thyroid gland is gradually destroyed. Infiltration of lymphocytes. Hypothyroidism Diffuse and lobulated[7] Thyroid hormone replacement Prevalence: 1 to 1.5 in a 1000 Remission with treatment
Pituitary disease Hypersecretion of thyroid stimulating hormone, almost always by a pituitary adenoma[8] Diffuse Pituitary surgery Very rare[8]
Graves' disease—also called Basedow syndrome Autoantibodies (TSHR-Ab) that activate the TSH-receptor (TSHR) Hyperthyroidism Diffuse Antithyroid agents, radioiodine, surgery Will develop in about 0.5% of males and 3% of females Remission with treatment, but still lower quality of life for 14 to 21 years after treatment, with lower mood and lower vitality, regardless of the choice of treatment[9]
Thyroiditis Acute or chronic inflammation Can be hyperthyroidism initially, but progress to hypothyroidism
Thyroid cancer Usually uninodular Overall relative 5-year survival rate of 85% for females and 74% for males[10]
Benign thyroid neoplasms Usually hyperthyroidism Usually uninodular Mostly harmless[11]
Thyroid hormone insensitivity Secretional hyperthyroidism,
Symptomatic hypothyroidism Diffuse
* Sarcoidosis
* Amyloidosis
* Hydatidiform mole
* Cysts
* Acromegaly
* Pendred syndrome
## Diagnosis[edit]
Goitre with toxic adenoma
Goitre may be diagnosed via a thyroid function test in an individual suspected of having it.[12]
### Types[edit]
A goitre may be classified either as nodular or diffuse. Nodular goitres are either of one nodule (uninodular) or of multiple nodules (multinodular).
Growth pattern
* Uninodular goitre: one thyroid nodule; can be either inactive, or active (toxic) – autonomously producing thyroid hormone.
* Multinodular goitre: multiple nodules;[13] can likewise be inactive or toxic, the latter is called toxic multinodular goitre and associated with hyperthyroidism. These nodules grow up at varying rates and secrete thyroid hormone autonomously, thereby suppressing TSH-dependent growth and function in the rest of gland. Inactive nodules in the same goitre can be malignant.[14] Thyroid cancer is identified in 13.7% of the patients operated for multinodular goitre.[15]
* Diffuse goitre: the whole thyroid appearing to be enlarged due to hyperplasia.
Size
* Class I: the goitre in normal posture of the head cannot be seen; it is only found by palpation.
* Class II: the goitre is palpable and can be easily seen.
* Class III: the goitre is very large and is retrosternal (partially or totally lying below the sternum), pressure results in compression marks.
## Treatment[edit]
Goitre is treated according to the cause. If the thyroid gland is producing an excess of thyroid hormones (T3 and T4), radioactive iodine is given to the patient to shrink the gland. If goitre is caused by iodine deficiency, small doses of iodide in the form of Lugol's iodine or KI solution are given. If the goitre is associated with an underactive thyroid, thyroid supplements are used as treatment. Sometimes a partial or complete thyroidectomy is required.[16]
## Epidemiology[edit]
Disability-adjusted life year for iodine deficiency per 100,000 inhabitants in 2002.[17]
no data
fewer than 50
50–100
100–150
150–200
200–250
250–300
300–350
350–400
400–450
450–500
500–800
more than 800
Goitre is more common among women, but this includes the many types of goitre caused by autoimmune problems, and not only those caused by simple lack of iodine.[18]
## History[edit]
Goitre and cretinism in Styria, copper engraving, 1815
Women in Miesbacher Tracht, including a goitre choker
Chinese physicians of the Tang Dynasty (618–907) were the first to successfully treat patients with goitre by using the iodine-rich thyroid gland of animals such as sheep and pigs—in raw, pill, or powdered form.[19] This was outlined in Zhen Quan's (d. 643 AD) book, as well as several others.[19] One Chinese book, The Pharmacopoeia of the Heavenly Husbandman, asserted that iodine-rich sargassum was used to treat goitre patients by the 1st century BC, but this book was written much later.[19]
In the 12th century, Zayn al-Din al-Jurjani, a Persian physician, provided the first description of Graves' disease after noting the association of goitre and a displacement of the eye known as exophthalmos in his Thesaurus of the Shah of Khwarazm, the major medical dictionary of its time.[20][21] Al-Jurjani also established an association between goitre and palpitation.[22] The disease was later named after Irish doctor Robert James Graves, who described a case of goitre with exophthalmos in 1835. The German Karl Adolph von Basedow also independently reported the same constellation of symptoms in 1840, while earlier reports of the disease were also published by the Italians Giuseppe Flajani and Antonio Giuseppe Testa, in 1802 and 1810 respectively,[23] and by the English physician Caleb Hillier Parry (a friend of Edward Jenner) in the late 18th century.[24]
Paracelsus (1493–1541) was the first person to propose a relationship between goitre and minerals (particularly lead) in drinking water.[25] Iodine was later discovered by Bernard Courtois in 1811 from seaweed ash.
Goitre was previously common in many areas that were deficient in iodine in the soil. For example, in the English Midlands, the condition was known as Derbyshire Neck. In the United States, goitre was found in the Great Lakes, Midwest, and Intermountain regions. The condition is now practically absent in affluent nations, where table salt is supplemented with iodine. However, it is still prevalent in India, China,[26] Central Asia, and Central Africa.
Goitre had been prevalent in the alpine countries for a long time. Switzerland reduced the condition by introducing iodised salt in 1922. The Bavarian tracht in the Miesbach and Salzburg regions, which appeared in the 19th century, includes a choker, dubbed Kropfband (struma band) which was used to hide either the goitre or the remnants of goitre surgery.[27]
## Society and culture[edit]
In the 1920s wearing bottles of iodine around the neck was believed to prevent goitre.[28]
### Notable cases[edit]
* Former U.S. President George H. W. Bush and his wife Barbara Bush were both diagnosed with Graves' disease and goitres, within two years of each other. The disease caused hyperthyroidism and cardiac dysrhythmia.[29][30] Scientists said that the odds of both George and Barbara Bush having Graves' disease might be 1 in 100,000 or as low as 1 in 3,000,000.[31]
### Heraldry[edit]
The coat of arms and crest of Die Kröpfner, of Tyrol showed a man "afflicted with a large goitre", an apparent pun on the German for the word ("Kropf").[32]
## See also[edit]
* David Marine conducted substantial research on the treatment of goitre with iodine.
* Endemic goitre
* Struma ovarii—a kind of teratoma
* Thyroid hormone receptor
## References[edit]
1. ^ "Thyroid Nodules and Swellings". British Thyroid Foundation.
2. ^ "Goitre - NHS Choices". NHS Choices. 2017-10-19.
3. ^ a b Hörmann R (2005). Schilddrüsenkrankheiten Leitfaden für Praxis und Klinik (4., aktualisierte und erw. Aufl ed.). Berlin. pp. 15–37. ISBN 3-936072-27-2.
4. ^ Porth CM, Gaspard KJ, Noble KA (2011). Essentials of pathophysiology: Concepts of altered health states (3rd ed.). Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins.
5. ^ Mitchell RS, Kumar V, Abbas AK, Fausto N (2007). Robbins Basic Pathology (8th ed.). Philadelphia: Saunders. ISBN 978-1-4160-2973-1.
6. ^ "Toxicological Profile For Cyanide" (PDF). Atsdr.cdc.gov. Retrieved 2017-03-16.
7. ^ Babademez MA, Tuncay KS, Zaim M, Acar B, Karaşen RM (November 2010). "Hashimoto thyroiditis and thyroid gland anomalies". The Journal of Craniofacial Surgery. 21 (6): 1807–9. doi:10.1097/SCS.0b013e3181f43e32. PMID 21119426.
8. ^ a b Thyrotropin (TSH)-secreting pituitary adenomas. By Roy E Weiss and Samuel Refetoff. Last literature review version 19.1: January 2011. This topic last updated: July 2, 2009
9. ^ Abraham-Nordling M, Törring O, Hamberger B, Lundell G, Tallstedt L, Calissendorff J, Wallin G (November 2005). "Graves' disease: a long-term quality-of-life follow up of patients randomized to treatment with antithyroid drugs, radioiodine, or surgery". Thyroid. 15 (11): 1279–86. doi:10.1089/thy.2005.15.1279. PMID 16356093.
10. ^ Numbers from EUROCARE, from Page 10 in: Grünwald F, Biersack HJ (2005). Thyroid cancer. Berlin: Springer. ISBN 978-3-540-22309-2.
11. ^ Bukvic BR, Zivaljevic VR, Sipetic SB, Diklic AD, Tausanovic KM, Paunovic IR (August 2014). "Improvement of quality of life in patients with benign goiter after surgical treatment". Langenbeck's Archives of Surgery. 399 (6): 755–64. doi:10.1007/s00423-014-1221-7. PMID 25002182. S2CID 34137703.
12. ^ "Goitre". nhs.uk. 19 October 2017. Retrieved 27 March 2019.
13. ^ Frilling A, Liu C, Weber F (2004). "Benign multinodular goiter". Scandinavian Journal of Surgery. 93 (4): 278–81. doi:10.1177/145749690409300405. PMID 15658668. S2CID 38834260.
14. ^ "Toxic multinodular goitre - Symptoms, diagnosis and treatment | BMJ Best Practice". bestpractice.bmj.com.
15. ^ Gandolfi PP, Frisina A, Raffa M, Renda F, Rocchetti O, Ruggeri C, Tombolini A (August 2004). "The incidence of thyroid carcinoma in multinodular goiter: retrospective analysis". Acta Bio-Medica. 75 (2): 114–7. PMID 15481700.
16. ^ "Goiter – Simple". The New York Times.
17. ^ "Mortality and Burden of Disease Estimates for WHO Member States in 2002" (xls). World Health Organization. 2002.
18. ^ 1
19. ^ a b c Temple R (1986). The Genius of China: 3,000 Years of Science, Discovery, and Invention. New York: Simon and Schuster, Inc. pp. 134–5. ISBN 0-671-62028-2.
20. ^ Basedow's syndrome or disease at Who Named It? – the history and naming of the disease
21. ^ Ljunggren JG (August 1983). "[Who was the man behind the syndrome: Ismail al-Jurjani, Testa, Flagani, Parry, Graves or Basedow? Use the term hyperthyreosis instead]". Lakartidningen. 80 (32–33): 2902. PMID 6355710.
22. ^ Nabipour I (2003). "Clinical Endocrinology in the Islamic Civilization in Iran". International Journal of Endocrinology and Metabolism. 1: 43–45 [45].
23. ^ Giuseppe Flajani at Who Named It?
24. ^ Hull G (June 1998). "Caleb Hillier Parry 1755-1822: a notable provincial physician". Journal of the Royal Society of Medicine. 91 (6): 335–8. doi:10.1177/014107689809100618. PMC 1296785. PMID 9771526.
25. ^ "Paracelsus" Britannica
26. ^ "In Raising the World's I.Q., the Secret's in the Salt", article by Donald G. McNeil, Jr., December 16, 2006, The New York Times
27. ^ Wissen, Planet (16 March 2017). "Planet Wissen".
28. ^ "ARCHIVED – Why take iodine?". Nrc-cnrc.gc.ca. 2011-09-30. Retrieved 2012-11-01.
29. ^ Lahita RG, Yalof I (2004-07-20). Women and Autoimmune Disease. HarperCollins. p. 158. ISBN 978-0-06-008149-2.
30. ^ Altman LK (14 September 1991). "A White House Puzzle: Immunity Ailments". The New York Times. "Doctors Say Bush Is in Good Health"
31. ^ Altman LK (28 May 1991). "The Doctor's World; A White House Puzzle: Immunity Ailments". The New York Times.
32. ^ Fox-Davies AC (1904). The Art of Heraldry: An Encyclopædia of Armory. New York and London: Benjamin Blom, Inc. p. 413.
## External links[edit]
Classification
D
* ICD-10: E01-E05
* ICD-9-CM: 240.9
* MeSH: D006042
* DiseasesDB: 5332
External resources
* MedlinePlus: 001178
Wikimedia Commons has media related to Goiters.
* v
* t
* e
Thyroid disease
Hypothyroidism
* Iodine deficiency
* Cretinism
* Congenital hypothyroidism
* Myxedema
* Myxedema coma
* Euthyroid sick syndrome
* Signs and symptoms
* Queen Anne's sign
* Woltman sign
* Thyroid dyshormonogenesis
* Pickardt syndrome
Hyperthyroidism
* Hyperthyroxinemia
* Thyroid hormone resistance
* Familial dysalbuminemic hyperthyroxinemia
* Hashitoxicosis
* Thyrotoxicosis factitia
* Thyroid storm
Graves' disease
* Signs and symptoms
* Abadie's sign of exophthalmic goiter
* Boston's sign
* Dalrymple's sign
* Stellwag's sign
* lid lag
* Griffith's sign
* Möbius sign
* Pretibial myxedema
* Graves' ophthalmopathy
Thyroiditis
* Acute infectious
* Subacute
* De Quervain's
* Subacute lymphocytic
* Palpation
* Autoimmune/chronic
* Hashimoto's
* Postpartum
* Riedel's
Enlargement
* Goitre
* Endemic goitre
* Toxic nodular goitre
* Toxic multinodular goiter
* Thyroid nodule
* Colloid nodule
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Goitre
|
c0018021
| 7,946 |
wikipedia
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https://en.wikipedia.org/wiki/Goitre
| 2021-01-18T18:30:14 |
{"mesh": ["D006042"], "umls": ["C0018021"], "wikidata": ["Q165135"]}
|
Ovarian vein syndrome
Relation of arteries and veins to ureters, view from the back
In medicine, ovarian vein syndrome is a rare (possibly not uncommon, certainly under-diagnosed) condition in which a dilated ovarian vein compresses the ureter (the tube that brings the urine from the kidney to the bladder). This causes chronic or colicky abdominal pain, back pain and/or pelvic pain. The pain can worsen on lying down or between ovulation and menstruation.[1][2] There can also be an increased tendency towards urinary tract infection or pyelonephritis (kidney infection). The right ovarian vein is most commonly involved, although the disease can be left-sided or affect both sides. It is currently classified as a form of pelvic congestion syndrome.
## Contents
* 1 Mechanism
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
## Mechanism[edit]
Normally, the ovarian vein crosses over the ureter at the level of the fourth or fifth lumbar vertebral bone. The ureter itself courses over the external iliac artery and vein.[3] Thus, these vessels can impinge on the ureter causing obstruction. The left ovarian vein ends in the renal vein whereas the right ovarian vein normally enters into the inferior vena cava. In the case of right ovarian vein syndrome, the vein often ends in the renal vein. This is thought to contribute to venous engorgement, in analogy to what is seen in varicoceles, which arise more commonly on the left side. The straight angle between the ovarian vein (or testicular vein in males in the case of varicocoele) and the renal vein has been proposed as a cause of decreased blood return.
A related diagnosis is "Nutcraker Syndrome" where the left renal vein is described as being compressed between the aorta and the superior mesenteric artery. This is reported to cause collateral flow paths to open up to drain the left kidney i.e. reversed flow (reflux caudally) in the left renal vein. Pelvic Congestion Syndrome, vaginal and vulval varices, lower limb varices are clinical sequelae. Virtually all such patient are female and have been pregnant, often multiply.
The ovarian vein often displays incompetent valves. This has been observed more often in women with a higher number of previous pregnancies. Pressure from the baby might hinder the return of blood through the ovarian vein. It has to be noted however that dilation of the urinary tract is a normal observation in pregnancy, due to mechanical compression and the hormonal action of progesterone. Ovarian vein dilatation might also follow venous thrombosis (clotting inside the vein).
Another proposed mechanism of obstruction is when the ovarian vein and ureter both run through a sheath of fibrous tissue, following a local inflammation. This could be seen as a localised form of retroperitoneal fibrosis.[3]
Following obstruction, the ureter displays an abnormal peristalsis (contractions) towards the kidney instead of towards the bladder. This is thought to cause the colicky pain (similar to renal colic), and it is relieved after surgical decompression.
## Diagnosis[edit]
Since it is a rare disease, it remains a diagnosis of exclusion of other conditions with similar symptoms. The diagnosis is supported by the results of imaging studies such as computed tomography or magnetic resonance imaging, ultrasound of the abdomen (with or without doppler imaging) or intravenous urography.
Specialist vascular ultrasonographers should routinely look for left ovarian vein reflux in patients with lower limb varices especially if not associated with long or short saphenous reflux. The clinical pattern of varices differs between the two types of lower limb varices. CT scanning is used to exclude abdominal or pelvic pathology. CT-Angiography/Venography can often demonstrate left ovarian vein reflux and image an enlarged left ovarian vein but is less sensitive and much more expensive than duplex Doppler ultrasound examination. Ultrasound requires that the ultrasonographer be experienced in venous vascular ultrasound and so is not always readily available. A second specialist ultrasound exam remains preferable to a CT scan.
As a wide range of pelvic and abdominal pathology can cause symptoms consistent with those symptoms due to left ovarian vein reflux, prior to embolisation of the left ovarian vein, a careful search for such diagnoses is essential. Consultation with general surgeons, gynaecologists, and possibly CT scanning should always be considered.
## Treatment[edit]
Treatment consists of painkillers and surgical ablation of the dilated vein. This can be accomplished with open abdominal surgery (laparotomy) or keyhole surgery (laparoscopy).[4] Recently, the first robot-assisted surgery was described.[5]
Another approach to treatment involves catheter-based embolisation,[6] often preceded by phlebography to visualise the vein on X-ray fluoroscopy.[2][7]
Ovarian vein coil embolisation is an effective and safe treatment for pelvic congestion syndrome and lower limb varices of pelvic origin. Many patients with lower limb varices of pelvic origin respond to local treatment i.e. ultrasound guided sclerotherapy. In those cases, ovarian vein coil embolisation should be considered second line treatment to be used if veins recur in a short time period i.e. 1–3 years. This approach allows further pregnancies to proceed if desired. Bilateral coil embolisation is not advised if a future pregnancy is possible. This treatment has largely superseded operative options.
Coil embolisation requires exclusion of other pelvic pathology, expertise in endovascular surgery, correct placement of appropriate sized coils in the pelvis and also in the upper left ovarian vein, careful pre- and post-procedure specialist vascular ultrasound imaging, a full discussion of the procedure with the patient i.e. informed consent. Complications, such as coil migration, are rare but reported. Their sequelae are usually minor.
If a Nutcracker compression (see below) is discovered, operative relocation of the renal vein should be considered before embolization of the ovarian vein. Stenting is not advised. Reducing outflow obstruction should always be the main objective.
## History[edit]
The entity was first described by Clark in 1964.[8] Following initial scepticism and lively discussion in the medical literature,[9][10] it is now recognised by many authors.[1]
## References[edit]
1. ^ a b Tourné G, Ducroux A, Bourbon M, Blinding H (September 2002). "The ovarian vein syndrome: eight cases and review of the literature". J Gynecol Obstet Biol Reprod (Paris) (in French). 31 (5): 471–7. PMID 12379831.
2. ^ a b del Valle González N, Estébanez Zarranz J, Escudero Caro T, et al. (January 2006). "Laparoscopic treatment of ovarian vein syndrome". Actas Urol Esp (in Spanish). 30 (1): 85–9. PMID 16703736.
3. ^ a b Maubon A, Ferru JM, Thiebaut C, Berger V, Hoche N, Rouanet JP (March 1997). "Left ovarian vein syndrome". J Radiol (in French). 78 (3): 223–5. PMID 9113150.
4. ^ Elashry OM, Nakada SY, Wolf JS, Figenshau RS, McDougall EM, Clayman RV (October 1996). "Ureterolysis for extrinsic ureteral obstruction: a comparison of laparoscopic and open surgical techniques". J. Urol. 156 (4): 1403–10. doi:10.1016/S0022-5347(01)65601-5. PMID 8808882.
5. ^ Badger WJ, De EJ, Kaufman RP (2008). "Robotically assisted excision of ovarian vein for intermittent ureteral obstruction". JSLS. 12 (2): 166–8. PMC 3016184. PMID 18435891.
6. ^ Kwon SH, Oh JH, Ko KR, Park HC, Huh JY (2007). "Transcatheter ovarian vein embolization using coils for the treatment of pelvic congestion syndrome". Cardiovasc Intervent Radiol. 30 (4): 655–61. doi:10.1007/s00270-007-9040-7. PMID 17468903.
7. ^ Moyano Calvo JL, Teba del Pino F, Arellano Gañan R, et al. (November 1993). "[The ovarian vein syndrome. Its treatment by percutaneous embolization and a review of the same]". Arch. Esp. Urol. (in Spanish). 46 (9): 802–6. PMID 8304795.
8. ^ Clark JC. The right ovarian vein syndrome. Emmett J.J. ed. Clinical urography: An Atlas end Texbook of Roentgenologic Diagnosis. 2ª ed. W.B. Saunders Company. Philadelphia 1964;1227-1236.
9. ^ Dure-Smith P (April 1979). "Ovarian syndrome: is it a myth?". Urology. 13 (4): 355–64. doi:10.1016/0090-4295(79)90330-3. PMID 107642.
10. ^ Derrick FC, Rosenblum R, Frensilli FJ (May 1973). "Right ovarian vein syndrome. Six-year critique". Urology. 1 (5): 383–5. doi:10.1016/0090-4295(73)90364-6. PMID 4204069.
* v
* t
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Kidney disease
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* See Template:Glomerular disease
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Female diseases of the pelvis and genitals
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* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Ovarian vein syndrome
|
c0348020
| 7,947 |
wikipedia
|
https://en.wikipedia.org/wiki/Ovarian_vein_syndrome
| 2021-01-18T18:53:06 |
{"umls": ["C0348020"], "wikidata": ["Q7113258"]}
|
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Oculoauriculovertebral spectrum with radial defects
|
c0220681
| 7,948 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2549
| 2021-01-23T18:22:20 |
{"gard": ["3653"], "mesh": ["D006053"], "omim": ["141400"], "umls": ["C0220681", "C0265240"], "icd-10": ["Q75.8"], "synonyms": ["Hemifacial microsomia-radial defects syndrome", "Moeschler-Clarren syndrome"]}
|
## Description
Adenomyosis is characterized by the presence of endometrial glands and stroma within the myometrium. Abnormal uterine bleeding and dysmenorrhea are the most characteristic symptoms, occurring in approximately 65% of cases (Arnold et al., 1995).
Inheritance
Emge (1962) noted a possible hereditary factor in the occurrence of adenomyosis because of his finding of 7 mother-daughter pairs who had undergone surgery for adenomyosis over a 15-year period.
Arnold et al. (1995) reported a family with adenomyosis in 3 successive generations; 2 sisters, their mother, and their maternal grandmother were affected. Either autosomal or X-linked dominant inheritance is possible.
GU \- Adenomyosis Lab \- Endometrial glands and stroma within the myometrium \- Abnormal uterine bleeding \- Dysmenorrhea Inheritance \- Autosomal vs. X-linked dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
ADENOMYOSIS
|
c0341858
| 7,949 |
omim
|
https://www.omim.org/entry/600458
| 2019-09-22T16:16:09 |
{"doid": ["288"], "mesh": ["D062788"], "omim": ["600458"], "icd-9": ["617.0"], "icd-10": ["N80.0"]}
|
Dyserythropoiesis
A peripheral blood smear of a patient with iron-deficiency anemia, an example of an acquired dyserythropoiesis
Dyserythropoiesis refers to the defective development of red blood cells, also called erythrocytes.[1] This problem can be congenital, acquired, or inherited.[2] Some red blood cells may be destroyed within the bone marrow during the maturation process, whereas others can enter the circulation with abnormalities.[3] These abnormalities can be functional and/or morphological, which can lead to anemia since there may be increased turnover of red blood cells.[1][2] There are a number of diseases that cause dyserythropoiesis. Congenital/inherited causes include congenital dyserythropoietic anemia, thalassemia, pyruvate kinase deficiency, hereditary pyropoikilocytosis, and abetalipoproteinemia.[2] Acquired causes include nutrient deficiency/malnutrition (e.g. cobalamine, folate, and iron), myelodysplasia, HIV infection, and certain medications (e.g. zidovudine).[2]
## See also[edit]
* Erythropoiesis
* Erythrocyte
* Congenital dyserythropoietic anemia
## References[edit]
1. ^ a b Orkin, S.H.; Nathan, D.G. (2009). Nathan and Oski's Hematology of Infancy and Childhood. ClinicalKey 2012. Saunders/Elsevier. p. 360. ISBN 978-1-4160-3430-8. Retrieved 2017-10-31.
2. ^ a b c d Shinton, N.K. (2007). Desk Reference for Hematology, Second Edition. CRC Press. p. 267. ISBN 978-1-4200-0512-7. Retrieved 2017-10-31.
3. ^ Hoffbrand, A.V.; Catovsky, D.; Tuddenham, E.G.D. (2008). Postgraduate Haematology (in German). Wiley. p. 202. ISBN 978-1-4051-4353-0. Retrieved 2017-10-31.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Dyserythropoiesis
|
c0221143
| 7,950 |
wikipedia
|
https://en.wikipedia.org/wiki/Dyserythropoiesis
| 2021-01-18T18:58:43 |
{"umls": ["C0221143"], "wikidata": ["Q48998272"]}
|
X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
X-linked intellectual disability, Shashi type
|
c1846145
| 7,951 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85286
| 2021-01-23T16:53:22 |
{"gard": ["4119"], "mesh": ["C537135"], "omim": ["300238"], "icd-10": ["Q87.8"], "synonyms": ["Syndromic X-linked intellectual disability type 11"]}
|
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
## Epidemiology
To date, more than 200 cases have been reported worldwide.
## Clinical description
Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. The clinical phenotype is variable with about half of affected individuals presenting global developmental delay, which usually presents in infancy. Cerebellar signs frequently include intention tremor, dysmetria, absence of smooth pursuit and gaze-evoked nystagmus and, more variably, gait ataxia and vertical gaze limitation. Pyramidal signs are typically absent in young children and may develop slowly in older patients. Extrapyramidal signs, typically dystonia, are prominent in only a few patients. Wheelchair dependence typically occurs from the end of the first decade, although half of patients remain ambulatory as adults. Cognition varies from normal to learning difficulties or mild to moderate intellectual disability (most frequent), with slow deterioration in the second decade. Expressive language and swallowing is present until late but deteriorates over time. Dental abnormalities include delayed dentition with abnormal order of deciduous teeth eruption, hypodontia and, less frequently, natal teeth. Delayed puberty or primary amenorrhea is frequent. Most patients have high myopia; optic atrophy is present in older individuals. About half of patients have short stature, and may have growth hormone deficiency. Central hypothyroidism is present in a few patients. Brain magnetic resonance imaging (MRI) shows hypomyelination along with relative T2 hypointensity of optic radiation, posterior limb of internal capsule, anterolateral thalamus, and dentate nucleus.
## Etiology
Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. POLR3 is an enzyme responsible for transcription of specific noncoding small RNAs involved in the regulation of transcription, RNA processing, and translation. It is suggested that these mutations lead to abnormal POLR3 function and abnormal production of proteins important for development of central nervous system white matter. Despite the overlap in causal genes, no genotype-phenotype correlation has been identified.
## Diagnostic methods
Diagnosis is suspected based on the clinical presentation and the characteristic hypomyelination findings on brain MRI. Blood tests for levels of thyroid, growth and puberty hormones can be helpful. Diagnosis is confirmed by genetic testing.
## Differential diagnosis
Other hypomyelinating leukodystrophies, especially when there are no typical dental abnormalities.
## Antenatal diagnosis
Genetic prenatal diagnosis is possible when causal mutations have previously been identified in an affected family.
## Genetic counseling
The disease is inherited in an autosomal recessive manner and genetic counseling should be offered to affected families. Where both parents are unaffected carriers, the risk of inheriting the disease is 25%. POLR3A pathogenic variants tend to correspond with an earlier disease onset, more rapid neurological decline and shorter life expectancy than POLR3B pathogenic variants.
## Management and treatment
Management and treatment should be multidisciplinary and tailored to the individual. Regular monitoring by an endocrinologist is required. The decision to treat sex and growth hormone deficiency, when present, is individually based. Physical aids and therapy may be required to support motor function. Good dental hygiene and monitoring is recommended to preserve teeth. Regular ophthalmologic follow-up is also necessary, as in most patients, especially with POLR3B mutations, myopia continues to increase.
## Prognosis
Prognosis depends primarily on disease severity. At the severe end, affected individuals do not achieve independent walking and have mild to moderate intellectual disability.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
4H leukodystrophy
|
None
| 7,952 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289494
| 2021-01-23T19:08:10 |
{"synonyms": ["POLR-related leukodystrophy"]}
|
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
## Epidemiology
It is a very rare condition occurring in around 1 per 150,000 live births.
## Clinical description
'The disease mainly affects newborn infants (or those younger than 6 months of age) with a normal heart and no other underlying illness. Most infants are asymptomatic but some may show shortness of breath or respiratory distress. Less often, the disorder may occur in children with heart malformations (such as hypertrophic cardiomyopathy, tetralogy of Fallot, or atrioventricular canal defect; see these terms) or in those having recently undergone an open-heart surgery. Very rarely, multifocal atrial tachycardia can be associated with other clinical features and be part of a syndrome, such as in Costello syndrome where it is associated with growth retardation, coarse facies, intellectual disability, and skin anomalies (see this term).'
## Etiology
The etiology is unknown.
## Diagnostic methods
Diagnosis is made by surface electrocardiogram: atrial activity is polymorphic (at least 3 different morphologies of P waves with a discrete isoelectric baseline, and variable PP, RR, and PR intervals), rapid (atrial rates can increase up to 400 beats per minute), and irregular. Atrioventricular conduction is variable so that some P waves are not conducted. Rate-related QRS widening (aberrancy) is sometimes seen.
## Differential diagnosis
Differential diagnosis includes most other types of tachycardia (e.g. nonsustained ventricular tachycardia, paroxysmal supraventricular tachycardia (PSVT)).
## Management and treatment
If the ventricular rate is relatively normal and the infant is asymptomatic with normal heart function, no treatment may be necessary. Cardioversion is unsuccessful due to the fact that the arrhythmia is restarting all the time. A beta-blocker is probably the drug of choice, with an occasional patient with poor ventricular function needing treatment with amiodarone.
## Prognosis
The natural history of multifocal atrial tachycardia is spontaneous resolution within weeks or months. In those who require drug treatment, medication can be withdrawn after that time. The long term outlook is good, with no late recurrence.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Multifocal atrial tachycardia
|
c0221158
| 7,953 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3282
| 2021-01-23T18:12:22 |
{"gard": ["1235"], "umls": ["C0221158"], "icd-10": ["I47.1"], "synonyms": ["Chaotic atrial tachycardia", "MAT"]}
|
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Reticular dystrophy of the retinal pigment epithelium
|
c1867332
| 7,954 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99002
| 2021-01-23T17:13:59 |
{"mesh": ["C566721"], "omim": ["179840", "267800", "617175"], "umls": ["C1867332"], "icd-10": ["H35.5"]}
|
Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
## Epidemiology
Annual incidence is estimated at 1/5,000 male births and the prevalence is estimated at 1/12,000.
## Clinical description
Hemophilia primarily affects males, but female carriers of the disease-causing mutations may also manifest generally milder forms of the disease (symptomatic forms of hemophilia A and B in female carriers; see these terms). In general, onset of the bleeding anomalies occurs when affected infants start to learn to walk. The severity of the clinical manifestations depends on the extent of the coagulation factor deficiency. If the biological activity of the coagulation factor is below 1%, the hemophilia is severe and manifests as frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction (severe hemophilia A and B; see these terms). If the biological activity of the coagulation factor is between 1% and 5%, the hemophilia is moderately severe with abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction but spontaneous hemorrhage is rare (moderately severe hemophilia A and B; see these terms). If the biological activity of the coagulation factor is between 5 and 40%, the hemophilia is mild with abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction but spontaneous hemorrhage does not occur (mild hemophilia A and B; see these terms). Bleeding most often occurs around the joints (hemarthroses) and in the muscles (hematomas), but any site may be involved following trauma or injury. Spontaneous hematuria is a fairly frequent and highly characteristic sign of the disorder.
## Etiology
The disorder is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII, or in the F9 gene (Xq27) encoding coagulation factor IX, which are implicated in hemophilia types A and B, respectively (see these terms).
## Diagnostic methods
Diagnosis is made on the basis of coagulation tests revealing prolonged blood coagulation times. The type and severity of the hemophilia are determined through specific measurements of factor VIII and IX levels.
## Differential diagnosis
The differential diagnosis should include von Willebrand disease (see this term) and other coagulation anomalies leading to prolonged blood coagulation times.
## Antenatal diagnosis
Prenatal diagnosis is feasible through molecular analysis of chorionic villus samples. Coagulation factor assays can also be carried out on venous and umbilical cord blood samples.
## Genetic counseling
Hemophilia is transmitted in an X-linked recessive manner and around 70% of hemophiliacs have a positive family history of the disease.
## Management and treatment
Treatment revolves around substitution therapy with plasma derivatives or genetically engineered recombinant alternatives. Treatment may be administered after a hemorrhage or to prevent bleeding (as a prophylactic treatment). The most frequent complication is the production of inhibitory antibodies against the administered coagulation factor. Surgical interventions, most notably orthopedic surgery, may be carried out but should be conducted in specialized centers.
## Prognosis
Historically, the disease course is severe and, left untreated, severe hemophilia is generally fatal during childhood or adolescence. Insufficient or incorrect treatment of recurrent hemarthroses and hematomas leads to motor impairment with severe disability associated with stiffness, joint deformation and paralysis. However, current treatment approaches now allow these complications to be prevented and the prognosis is favorable: the earlier the substitutive therapy is received and the more adapted the treatment is to the clinical status of the patient, the better the 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
|
Hemophilia
|
c0684275
| 7,955 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=448
| 2021-01-23T18:14:32 |
{"gard": ["10418"], "umls": ["C0684275"]}
|
Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. People with FSS have a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face". In addition, they may have deep nasolabial folds (the skin between the nose and the lips) and a V-shaped chin dimple. There may be abnormalities of the eyes such as wide-spaced eyes (hypertelorism) and a narrowing of the eye opening (blepharophimosis). People with FSS often have breathing, eating, and speech problems. The joint and spine problems may get worse over time. FSS is thought to be caused by variants in the MYH3 gene. Most cases occur by chance. Rarely, FSS is inherited in an autosomal dominant manner. Diagnosis is based on a specific set of symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may involve corrective surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Freeman-Sheldon syndrome
|
c0265224
| 7,956 |
gard
|
https://rarediseases.info.nih.gov/diseases/6466/freeman-sheldon-syndrome
| 2021-01-18T18:00:26 |
{"mesh": ["C535483"], "omim": ["193700"], "umls": ["C0265224"], "orphanet": ["2053"], "synonyms": ["FSS", "Arthrogryposis distal type 2A", "Whistling face-windmill vane hand syndrome", "Craniocarpotarsal dystrophy", "Craniocarpotarsal dysplasia", "DA2A", "Distal arthrogryposis type 2A", "Freeman-Burian syndrome"]}
|
Sclerotic fibroma
SpecialtyDermatology
Sclerotic fibromas[1] are a cutaneous condition characterized by well-circumscribed, dome-shaped, dermal hypocellular nodules composed predominantly of sclerotic thick collagen bundles.[2]
## See also[edit]
* Blepharochalasis
* List of cutaneous conditions
* List of cutaneous neoplasms associated with systemic syndromes
## References[edit]
1. ^ http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=-1886087892
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Sclerotic fibroma
|
c1300346
| 7,957 |
wikipedia
|
https://en.wikipedia.org/wiki/Sclerotic_fibroma
| 2021-01-18T18:37:36 |
{"wikidata": ["Q7434197"]}
|
See immune response to synthetic polypeptide--IRHGAL (146950).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL
|
c1840259
| 7,958 |
omim
|
https://www.omim.org/entry/146960
| 2019-09-22T16:39:35 |
{"omim": ["146960"]}
|
## Clinical Features
Lammer et al. (2001) reported a malformation pattern affecting 5 of 7 sibs born to unaffected first-cousin Afghan parents. Their first 2 children died during infancy of cyanotic congenital heart defects. Two living male sibs had tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male had communicating hydrocephalus and hypertelorism without heart disease but with moderate developmental delay and a chordee. Lammer et al. (2001) argued for autosomal recessive inheritance because of the consanguinity of the parents and the absence of any history of similarly affected males in the remainder of the pedigree. The possibility of a cryptic balanced subtelomeric translocation was suggested and seems as likely as recessive inheritance in the pedigree.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE
|
c1854119
| 7,959 |
omim
|
https://www.omim.org/entry/605618
| 2019-09-22T16:11:09 |
{"mesh": ["C565314"], "omim": ["605618"]}
|
A simulated pregnancy is a deliberate attempt to create the impression of pregnancy.[1][2][3][4]
It should not be confused with false pregnancy, where a person mistakenly believes that they are pregnant.
## Contents
* 1 Techniques
* 2 Reasons [5]
* 3 In Popular Culture
* 4 See also
* 5 References
## Techniques[edit]
People who wish to look pregnant, generally for social, sexual, entertainment, or psychological purposes, have the option of body suits and the like to wear under their clothes. It can be done by using pillows or pads, or light-weighing, small balls with a round shape to simulate a pregnant abdomen. A common practice is to place a form replicating a belly (rolled up clothes, deflated ball, etc.) under a skin colored, tight bodysuit. This creates a realistic color and shape.
## Reasons [5][edit]
A female character lies about being pregnant. This can be done for a variety of reasons: perhaps the character is trying to get her boyfriend not to break up with her due to a misguided belief that [1]Babies Make Everything Better; perhaps (conversely) she is trying to scare her boyfriend off; perhaps she is trying to get another character to give her unofficial child support. This could also be done as part of a [2]Family Relationship Switcheroo (in which, for example, a daughter gets pregnant out of wedlock, and her mother fakes a pregnancy in an effort to pass the baby off as her own, rather than her daughter's). In historical dramas, this might also be done to stave off a capital sentence, as it used to be forbidden in Europe to put a pregnant woman to death.
## In Popular Culture[edit]
In Desperate Housewives, Bree Van de Kamp fakes a pregnancy to keep people from finding out that her daughter, Danielle Van de Kamp is actually pregnant.
In Passions, Pretty Crane fakes a pregnancy to keep her sister, Fancy Crane and her and Fancy’s love interest, Luis Lopez-Fitzgerald from getting married.
## See also[edit]
* Couvade syndrome
## References[edit]
1. ^ Llorens, Ileana (2011-12-09). "Fake Pregnancy Bellies Popular In China, Online Sales Increasing, Report Says". Huffingtonpost.com. Retrieved 2012-06-06.
2. ^ "Fake silicon bellies are pregnant with possibility |Society". chinadaily.com.cn. Retrieved 2012-06-06.
3. ^ "Fake pregnant belly becomes hot seller on the Internet - People's Daily Online". People's Daily Online. 2011-12-06. Archived from the original on 2012-01-07.
4. ^ Llorens, Ileana (2011-10-05). "'Mommy Tummy' Pregnancy Simulator Lets Men Experience What It Feels Like To Carry A Baby (Video)". Huffingtonpost.com. Retrieved 2012-06-06.
5. ^ "Fake Pregnancy". TV Tropes. Retrieved 2021-01-08.
This psychology-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This human reproduction 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
|
Simulated pregnancy
|
None
| 7,960 |
wikipedia
|
https://en.wikipedia.org/wiki/Simulated_pregnancy
| 2021-01-18T18:58:21 |
{"wikidata": ["Q7521300"]}
|
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
In a genomewide screen of 297 Crohn disease, ulcerative colitis, or mixed relative pairs from 174 families, of which 37% were Ashkenazim, Cho et al. (1998) found nominal evidence for linkage at D9S2157 on chromosome 9 (maximum multipoint lod = 1.41).
In a genomewide association study involving a total of 484 Japanese patients with Crohn disease and 1,097 controls, Yamazaki et al. (2005) identified highly significant associations with SNPs and haplotypes within the TNFSF15 gene (604052); association with TNFSF15 was confirmed in 2 Caucasian IBD cohorts from the UK. The authors noted that 5 SNPs that were polymorphic in both the Japanese and UK samples formed 2 frequent disease-associated haplotypes: the most frequent was a high-risk haplotype ('A'), which was significantly associated with disease in both Japan (p = 7.8 x 10(-11)) and the UK (p = 0.005); a low-risk haplotype ('B') also showed significant association in both populations (p = 9.3 x 10(-11) and p = 0.02, respectively).
Picornell et al. (2007) genotyped the 5 SNPs previously found to be associated with CD by Yamazaki et al. (2005) (rs3810936, rs6478108, rs6478109, rs7848647, and rs7869487) in 599 Caucasian patients with CD, 382 Caucasian patients with UC, and 230 ethnically matched healthy controls, including Jews and non-Jews. The 'risk' haplotype was not found to be associated with CD or UC, but Picornell et al. (2007) observed an increased frequency of the 'protective' haplotype ('B') in non-Jewish controls for both CD and UC (p = 0.01 for both), with an interactive effect between ethnicity and the protective haplotype in CD (p = 0.04). Picornell et al. (2007) concluded that TNFSF15 is indeed an IBD susceptibility gene and that the disease susceptibility is ethnic-specific.
Tremelling et al. (2008) analyzed 3 of the previously studied variants in the TNFSF15 gene in 756 UK patients with CD and 636 geographically-matched controls and found an association with CD for 2 of them, rs3810936 (OR, 1.18; p = 0.049) and rs7848647 (OR, 1.19, p = 0.033), under a multiplicative model. Haplotype analysis based on those 2 SNPs confirmed the presence of a risk haplotype (OR, 1.44; p = 0.00012); however, the authors also stated that their data provided further evidence that the disease-causing variant was not 1 of the 3 SNPs genotyped in their study.
In a metaanalysis of data from 3 studies of Crohn disease involving a total of 3,230 cases and 4,829 controls (Rioux et al., 2007, the Wellcome Trust Case-Control Consortium, 2007, and Libioulle et al., 2007) with replication in 3,664 independent cases, Barrett et al. (2008) identified significant association with rs4263839 at 9q32 (combined p = 2.60 x 10(-10); case-control odds ratio, 1.22).
Kakuta et al. (2009) examined peripheral blood mononuclear cells (PBMCs) stimulated by phytohemagglutinin (PHA) and observed that the allelic ratio of TNFSF15 mRNA transcribed from the risk haplotype to the nonrisk haplotype was increased compared to the ratio of unstimulated cells. When peripheral blood T cells and Jurkat cells stimulated by phorbol 12-myristate 13-acetate plus ionomycin were examined, an allelic expression imbalance similar to that observed in PBMCs stimulated by PHA was confirmed. The promoter assay in stimulated Jurkat cells showed that the luciferase activity of the promoter region (-979 to +35) of the risk haplotype was significantly higher than that of the nonrisk haplotype, and deletion and mutagenesis analysis demonstrated that this difference resulted from the -358T-C SNP. The promoter activity of -358C (risk allele) was higher than that of -358T (nonrisk allele) in stimulated T cells. Kakuta et al. (2009) hypothesized that this effect of -358T-C on the transcriptional activity in stimulated T cells may confer susceptibility to Crohn 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
|
INFLAMMATORY BOWEL DISEASE 16
|
c2677093
| 7,961 |
omim
|
https://www.omim.org/entry/612259
| 2019-09-22T16:02:02 |
{"mesh": ["C567380"], "omim": ["612259"]}
|
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
MEPAN syndrome
|
c4310634
| 7,962 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508093
| 2021-01-23T18:01:22 |
{"omim": ["617282"], "icd-10": ["E88.8"], "synonyms": ["Autosomal recessive childhood-onset dystonia, DYT29 type", "Childhood-onset generalized dystonia-optic atrophy syndrome", "DYT29", "Dystonia 29", "Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome"]}
|
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
## Epidemiology
About 100 cases have been reported worldwide.
## Clinical description
Clinical signs are muscular exercise intolerance (more severe than in type 5; see this term). Compensated hemolysis (increased bilirubin and reticulocytes) and hyperuricemia are associated. A rapidly fatal infant form has also been observed in 6 families.
## Etiology
The condition is caused by mutations in the PFKM gene (12q13) encoding the muscular isoenzyme of PFK, a key enzyme in the regulation of anaerobic glycolysis which has 3 isoenzymes (for the muscle, liver, and platelets).
## Diagnostic methods
The diagnosis is based on biological findings, revealing increased amounts of abnormal glycogen and enzyme deficiency (1 to 33% residual activity) in a muscle biopsy, whereas activity in erythrocytes is over 50%.
## Differential diagnosis
Differential diagnoses include the other forms of glycogen storage disease (see these terms).
## Genetic counseling
The condition is autosomal recessive, although a few cases with pseudodominance or symptomatic heterozygous individuals have been found.
## Management and treatment
The only treatment is to avoid intensive exercise. It should be noted that carbohydrates induce lower muscular performance (due to the decreased amounts of free fatty acids and ketone bodies).
## Prognosis
Myoglobinuria may lead to renal failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Glycogen storage disease due to muscle phosphofructokinase deficiency
|
c0017926
| 7,963 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=371
| 2021-01-23T18:31:33 |
{"gard": ["5686"], "mesh": ["D006014"], "omim": ["232800"], "umls": ["C0017926"], "icd-10": ["E74.0"], "synonyms": ["GSD due to muscle phosphofructokinase deficiency", "GSD type 7", "GSD type VII", "Glycogen storage disease type 7", "Glycogen storage disease type VII", "Glycogenosis due to muscle phosphofructokinase deficiency", "Glycogenosis type 7", "Glycogenosis type VII", "Tarui disease"]}
|
A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex.
## Epidemiology
Less than 60 families affected by Autosomal dominant medullary cystic kidney disease (ADMCKD) have been described. Prevalence is estimated to be 1/100 000.
## Clinical description
Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endo nasal desmopressin (2 pushes). Later, anemia, metabolic acidosis and uremia reflect the progressive renal insufficiency. End-stage renal disease typically occurs in the third-fifth decade of life or even later.
## Etiology
Two genes have been linked to the disease: MCKD1 (1q21) is associated with end-stage renal disease at the mean age of 62 years, and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease) with earlier end-stage renal disease (around 32 years) often with hyperuricemia and gout. The latter form is an allelic variant of FJHN type 1 (Familial juvenile hyperuricemic nephropathy type 1 - see this term), which is also due to mutations in UMOD. Candidate genes have been localised to 1q41 in families which did not show linkage to MCKD1 nor to MCKD2 and had, in addition to uricemia, calcium and uromodulin reduced urinary excretion.
## Diagnostic methods
The presence of a positive family history consistent with ADMCKD, the classical findings of long-standing polyuria and renal insufficiency in an adult patient aged from 30 to 50 years old evoke the diagnosis, which can be confirmed histologically, the most important criteria being tubulo-interstitial changes.
## Differential diagnosis
The differential diagnosis of ADMCKD should include diseases causing chronic progressive tubulointerstitial disease with minimal or no glomerular abnormalities.
## Genetic counseling
Genetic counselling is difficult, due to the incomplete penetrance and variable expression of the disease.
## Management and treatment
There is no specific therapy for ADMCKD other than correction of water and electrolyte imbalances that may occur. Dialysis followed by renal transplantation is the preferred approach for end-stage renal failure. The tubular injury does not occur in the transplanted kidney.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Autosomal dominant tubulointerstitial kidney disease
|
c1868139
| 7,964 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34149
| 2021-01-23T18:16:55 |
{"gard": ["10801"], "mesh": ["C536137"], "omim": ["174000", "603860", "609886"], "icd-10": ["Q61.5"], "synonyms": ["ADTKD", "Autosomal dominant medullary cystic kidney disease", "MCKD"]}
|
Diaphragmatic rupture
An X-ray showing a raised diaphragm on the right[1]
SpecialtyCardiothoracic surgery
SymptomsDifficulty breathing, chest pain
CausesTrauma
Diagnostic methodLaparotomy, CT scan, X-ray
TreatmentSurgery
Prognosis15–40%
Diaphragmatic rupture (also called diaphragmatic injury or tear) is a tear of the diaphragm, the muscle across the bottom of the ribcage that plays a crucial role in respiration. Most commonly, acquired diaphragmatic tears result from physical trauma. Diaphragmatic rupture can result from blunt or penetrating trauma[2] and occurs in about 5% of cases of severe blunt trauma to the trunk.[3]
Diagnostic techniques include X-ray, computed tomography, and surgical techniques such as laparotomy. Diagnosis is often difficult because signs may not show up on X-ray, or signs that do show up appear similar to other conditions. Signs and symptoms included chest and abdominal pain, difficulty breathing, and decreased lung sounds. When a tear is discovered, surgery is needed to repair it.
Injuries to the diaphragm are usually accompanied by other injuries, and they indicate that more severe injury may have occurred. The outcome often depends more on associated injuries than on the diaphragmatic injury itself.[4] Since the pressure is higher in the abdominal cavity than the chest cavity, rupture of the diaphragm is almost always associated with herniation of abdominal organs into the chest cavity, which is called a traumatic diaphragmatic hernia.[5] This herniation can interfere with breathing, and blood supply can be cut off to organs that herniate through the diaphragm, damaging them.[6]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Location
* 5 Treatment
* 6 Prognosis
* 6.1 Complications
* 7 Epidemiology
* 8 History
* 9 References
* 10 External links
## Signs and symptoms[edit]
Breath sounds on the side of the rupture may be diminished, respiratory distress may be present, and the chest or abdomen may be painful.[3] Orthopnea, dyspnea which occurs when lying flat, may also occur,[7] and coughing is another sign.[5] In people with herniation of abdominal organs, signs of intestinal blockage or sepsis in the abdomen may be present.[5] Bowel sounds may be heard in the chest, and shoulder or epigastric pain may be present.[4] When the injury is not noticed right away, the main symptoms are those that indicate bowel obstruction.[4] These people present months later, with vague symptoms that do not necessarily relate to an injury.[8]
## Causes[edit]
The injury may be caused by blunt trauma, penetrating trauma, and by iatrogenic causes (as a result of medical intervention), for example during surgery to the abdomen or chest.[4] Injury to the diaphragm is reported to be present in 8% of cases of blunt chest trauma.[9] In cases of blunt trauma, vehicle accidents and falls are the most common causes.[4] Penetrating trauma has been reported to cause 12.3–20% of cases, but it has also been proposed as a more common cause than blunt trauma; discrepancies could be due to varying regional, social, and economic factors in the areas studied.[2] Stab and gunshot wounds can cause diaphragmatic injuries.[4] Clinicians are trained to suspect diaphragmatic rupture particularly if penetrating trauma has occurred to the lower chest or upper abdomen.[10] With penetrating trauma, the contents of the abdomen may not herniate into the chest cavity right away, but they may do so later, causing the presentation to be delayed.[4] Since the diaphragm moves up and down during breathing, penetrating trauma to various parts of the torso may injure the diaphragm; penetrating injuries as high as the third rib and as low as the twelfth have been found to injure the diaphragm.[11]
## Mechanism[edit]
Although the mechanism is unknown, it is proposed that a blow to the abdomen may raise the pressure within the abdomen so high that the diaphragm bursts.[4] Blunt trauma creates a large pressure gradient between the abdominal and thoracic cavities; this gradient, in addition to causing the rupture, can also cause abdominal contents to herniate into the thoracic cavity.[7] Abdominal contents in the pleural space interfere with breathing and cardiac activity.[7] They can interfere with the return of blood to the heart and prevent the heart from filling effectively, reducing cardiac output.[7] If ventilation of the lung on the side of the tear is severely inhibited, hypoxemia (low blood oxygen) results.[7]
Usually the rupture is on the same side as an impact.[11] A blow to the side is three times more likely to cause diaphragmatic rupture than a blow to the front.[11]
## Diagnosis[edit]
Initially, diagnosis can be difficult, especially when other severe injuries are present; thus the condition is commonly diagnosed late.[3] Chest X-ray is known to be unreliable in diagnosing diaphragmatic rupture;[7] it has low sensitivity and specificity for the injury.[5] Often another injury such as pulmonary contusion masks the injury on the X-ray film.[4] Half the time, initial X-rays are normal; in most of those that are not, hemothorax or pneumothorax is present.[7] However, there are signs detectable on X-ray films that indicate the injury. On an X-ray, the diaphragm may appear higher than normal.[3] Gas bubbles may appear in the chest, and the mediastinum may appear shifted to the side.[3] A nasogastric tube from the stomach may appear on the film in the chest cavity; this sign is pathognomonic for diaphragmatic rupture, but it is rare.[7] A contrast medium that shows up on X-ray can be inserted through the nasogastric tube to make a diagnosis.[3] The X-ray is better able to detect the injury when taken from the back with the patient upright, but this is not usually possible because the patient is usually not stable enough; thus it is usually taken from the front with the patient lying supine.[5] Positive pressure ventilation helps keep the abdominal organs from herniating into the chest cavity, but this also can prevent the injury from being discovered on an X-ray.[7]
* Diaphragmatic rupture in a dog
* Diaphragmatic rupture with spleen herniation
Computed tomography has an increased accuracy of diagnosis over X-ray,[9] but no specific findings on a CT scan exist to establish a diagnosis.[10] Although CT scanning increases chances that diaphragmatic rupture will be diagnosed before surgery, the rate of diagnosis before surgery is still only 31–43.5%.[9] Another diagnostic method is laparotomy, but this misses diaphragmatic ruptures up to 15% of the time.[7] Often diaphragmatic injury is discovered during a laparotomy that was undertaken because of another abdominal injury.[7] Because laparotomies are more common in those with penetrating trauma than compared to those who experienced a blunt force injury, diaphragmatic rupture is found more often in these persons.[12] Thoracoscopy is more reliable in detecting diaphragmatic tears than laparotomy and is especially useful when chronic diaphragmatic hernia is suspected.[7]
### Location[edit]
Between 50 and 80% of diaphragmatic ruptures occur on the left side.[5] It is possible that the liver, which is situated in the right upper quadrant of the abdomen, cushions the diaphragm.[4] However, injuries occurring on the left side are also easier to detect in X-ray films.[7] Half of diaphragmatic ruptures that occur on the right side are associated with liver injury.[5] Injuries occurring on the right are associated with a higher rate of death and more numerous and serious accompanying injuries.[11] Bilateral diaphragmatic rupture, which occurs in 1–2% of ruptures, is associated with a much higher death rate (mortality) than injury that occurs on just one side.[5]
## Treatment[edit]
Since the diaphragm is in constant motion with respiration, and because it is under tension, lacerations will not heal on their own.[11] Surgery is needed to repair a torn diaphragm.[3] Most of the time, the injury is repaired during laparotomy.[10] Other injuries, such as hemothorax, may present a more immediate threat and may need to be treated first if they accompany diaphragmatic rupture.[4] Video-assisted thoracoscopy may be used.[7]
## Prognosis[edit]
In most cases, isolated diaphragmatic rupture is associated with good outcome if it is surgically repaired.[4] The death rate (mortality) for diaphragmatic rupture after blunt and penetrating trauma is estimated to be 15–40% and 10–30% respectively, but other injuries play a large role in determining outcome.[4]
### Complications[edit]
A significant complication of diaphragmatic rupture is traumatic diaphragmatic herniation: organs such as the stomach that herniate into the chest cavity and may be strangulated, losing their blood supply.[3] Herniation of abdominal organs is present in 3–4% of people with abdominal trauma who present to a trauma center.[10]
## Epidemiology[edit]
Diaphragmatic injuries are present in 1–7% of people with significant blunt trauma[4] and an average of 3% of abdominal injuries.[10] A high body mass index may be associated with a higher risk of diaphragmatic rupture in people involved in vehicle accidents.[4] It is rare for the diaphragm alone to be injured, especially in blunt trauma; other injuries are associated in as many as 80–100% of cases.[7][9] In fact, if the diaphragm is injured, it is an indication that more severe injuries to organs may have occurred.[9] Thus, the mortality after a diagnosis of diaphragmatic rupture is 17%, with most deaths due to lung complications.[9] Common associated injuries include head injury, injuries to the aorta, fractures of the pelvis and long bones, and lacerations of the liver and spleen.[7] Associated injuries occur in over three quarters of cases.[11]
## History[edit]
Ambroise Paré
In 1579, Ambroise Paré made the first description of diaphragmatic rupture, in a French artillery captain who had been shot eight months before his death from complications of the rupture.[10]
Using autopsies, Paré also described diaphragmatic rupture in people who had suffered blunt and penetrating trauma.[10] Reports of diaphragmatic herniation due to injury date back at least as far as the 17th century.[10]
Petit was the first to establish the difference between acquired and congenital diaphragmatic hernia, which results from a congenital malformation of the diaphragm. In 1888, Naumann repaired a hernia of the stomach into the left chest that was caused by trauma.[10]
## References[edit]
1. ^ Hariharan D, Singhal R, Kinra S, Chilton A (2006). "Post traumatic intra thoracic spleen presenting with upper GI bleed! A case report". BMC Gastroenterol. 6: 38. doi:10.1186/1471-230X-6-38. PMC 1687187. PMID 17132174.
2. ^ a b Sliker CW (March 2006). "Imaging of diaphragm injuries". Radiol Clin North Am. 44 (2): 199–211, vii. doi:10.1016/j.rcl.2005.10.003. PMID 16500203.
3. ^ a b c d e f g h Nolan JP (2002). "Major trauma". In Adams AP, Cashman JN, Grounds RM (eds.). Recent Advances in Anaesthesia and Intensive Care: Volume 22. London: Greenwich Medical Media. p. 182. ISBN 1-84110-117-6.
4. ^ a b c d e f g h i j k l m n o Scharff JR, Naunheim KS (February 2007). "Traumatic diaphragmatic injuries". Thorac Surg Clin. 17 (1): 81–5. doi:10.1016/j.thorsurg.2007.03.006. PMID 17650700.
5. ^ a b c d e f g h McGillicuddy D, Rosen P (August 2007). "Diagnostic dilemmas and current controversies in blunt chest trauma". Emerg Med Clin North Am. 25 (3): 695–711, viii–ix. doi:10.1016/j.emc.2007.06.004. PMID 17826213.
6. ^ Senent-Boza A, Segura-Sampedro JJ, Olivares-Oliver C, Padillo-Ruiz FJ (Aug 2015). "Hepatothorax caused by a late post-traumatic diaphragmatic rupture". Cir Esp. 93 (9): vii. doi:10.1016/j.ciresp.2015.05.006. PMID 26259648.
7. ^ a b c d e f g h i j k l m n o p Karmy-Jones R, Jurkovich GJ (March 2004). "Blunt chest trauma". Current Problems in Surgery. 41 (3): 211–380. doi:10.1016/j.cpsurg.2003.12.004. PMID 15097979. "A sudden increase in the pressure gradient between the pleural and peritoneal cavities that occurs with high-speed blunt trauma will lead to disruptions of the diaphragm... This same pleuroperitoneal pressure gradient will also promote migration of intraperitoneal structures into the pleural space after disruption has occurred. Once the viscera have been displaced into the pleural space, both cardiovascular and respiratory functions are compromised."
8. ^ Rashid, Farhan; Chakrabarty, Mallicka M.; Singh, Rajeev; Iftikhar, Syed Y. (2009-08-21). "A review on delayed presentation of diaphragmatic rupture". World Journal of Emergency Surgery. 4 (1): 32. doi:10.1186/1749-7922-4-32. ISSN 1749-7922. PMC 2739847. PMID 19698091.
9. ^ a b c d e f Weyant MJ, Fullerton DA (2008). "Blunt thoracic trauma". Seminars in Thoracic and Cardiovascular Surgery. 20 (1): 26–30. doi:10.1053/j.semtcvs.2008.01.002. PMID 18420123.
10. ^ a b c d e f g h i Asensio JA, Petrone P, Demitriades D, commentary by Davis JW (2003). "Injury to the diaphragm". In Moore EE, Feliciano DV, Mattox KL (eds.). Trauma. Fifth Edition. McGraw-Hill Professional. pp. 613–616. ISBN 0-07-137069-2.
11. ^ a b c d e f Fleisher GR, Ludwig S, Henretig FM, Ruddy RM, Silverman BK, eds. (2006). "Thoracic trauma". Textbook of Pediatric Emergency Medicine. Hagerstown, MD: Lippincott Williams & Wilkins. pp. 1446–7. ISBN 0-7817-5074-1.
12. ^ Desir, Amandine; Ghaye, Benoît (2012-03-01). "CT of Blunt Diaphragmatic Rupture". RadioGraphics. 32 (2): 477–498. doi:10.1148/rg.322115082. ISSN 0271-5333. PMID 22411944.
## External links[edit]
Classification
D
* ICD-10: S27.8
* ICD-9-CM: 862.1
* ICD-O: S27.8
External resources
* eMedicine: med/3487 emerg/136
* v
* t
* e
Chest injury, excluding fractures
Cardiac and
circulatory system injuries
* vascular: Traumatic aortic rupture
* Thoracic aorta injury
* heart: Myocardial contusion/Commotio cordis
* Cardiac tamponade
* Hemopericardium
* Myocardial rupture
Lung and
lower respiratory tract injuries
* Pneumothorax
* Hemothorax
* Hemopneumothorax
* Pulmonary contusion
* Pulmonary laceration
* Tracheobronchial injury
* Diaphragmatic rupture
* 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
|
Diaphragmatic rupture
|
c0238088
| 7,965 |
wikipedia
|
https://en.wikipedia.org/wiki/Diaphragmatic_rupture
| 2021-01-18T18:30:34 |
{"icd-9": ["862.1"], "icd-10": ["S27.8"], "wikidata": ["Q243877"]}
|
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.
Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. Potentially life-threatening episodes of severe bleeding (hemorrhages) may occur in the brain and other organs, especially during the first year of life. Hemorrhages can damage the brain and lead to intellectual disability. Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development.
The severity of skeletal problems in TAR syndrome varies among affected individuals. The radius, which is the bone on the thumb side of the forearm, is almost always missing in both arms. The other bone in the forearm, which is called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR syndrome is unusual among similar malformations in that affected individuals have thumbs, while people with other conditions involving an absent radius typically do not. However, there may be other abnormalities of the hands, such as webbed or fused fingers (syndactyly) or curved pinky fingers (fifth finger clinodactyly). Some people with TAR syndrome also have skeletal abnormalities affecting the upper arms, legs, or hip sockets.
Other features that can occur in TAR syndrome include malformations of the heart or kidneys. Some people with this disorder have unusual facial features including a small lower jaw (micrognathia), a prominent forehead, and low-set ears. About half of affected individuals have allergic reactions to cow's milk that may worsen the thrombocytopenia associated with this disorder.
## Frequency
TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 newborns.
## Causes
Mutations in the RBM8A gene cause TAR syndrome. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in several important cellular functions involving the production of other proteins.
Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. The deletions involved in TAR syndrome eliminate at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of chromosome 1 in a region called 1q21.1. The deletion eliminates one copy of the RBM8A gene in each cell and the RNA-binding motif protein 8A that would have been produced from it.
People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. This reduction is thought to cause problems in the development of certain tissues, but it is unknown how it causes the specific signs and symptoms of TAR syndrome. No cases have been reported in which a deletion that includes the RBM8A gene occurs on both copies of chromosome 1; studies indicate that the complete loss of RNA-binding motif protein 8A is not compatible with life.
Researchers sometimes refer to the deletion in chromosome 1 associated with TAR syndrome as the 200-kb deletion to distinguish it from another chromosomal abnormality called a 1q21.1 microdeletion. People with a 1q21.1 microdeletion are missing a different, larger DNA segment in the chromosome 1q21.1 region near the area where the 200-kb deletion occurs. The chromosomal change related to 1q21.1 microdeletion is often called the recurrent distal 1.35-Mb deletion.
### Learn more about the gene and chromosome associated with Thrombocytopenia-absent radius syndrome
* RBM8A
* chromosome 1
## Inheritance Pattern
TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chromosome 1. The affected individual usually inherits an RBM8A gene mutation from one parent. In about 75 percent of cases, the affected person inherits a copy of chromosome 1 with the 200-kb deletion from the other parent. In the remaining cases, the deletion occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. Although parents of an individual with TAR syndrome can carry an RBM8A gene mutation or a 200-kb deletion, 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
|
Thrombocytopenia-absent radius syndrome
|
c0175703
| 7,966 |
medlineplus
|
https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome/
| 2021-01-27T08:24:45 |
{"gard": ["5116"], "mesh": ["C536940"], "omim": ["274000"], "synonyms": []}
|
Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
## Epidemiology
Several families with multiple affected members (males and females) from several generations have been reported so far. Prevalence is estimated at 1 in 3 million.
## Clinical description
The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, tooth enamel defects, and moderate hyperkeratosis of the palms and soles. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Congenital misalignment of the great toenails was reported in some patients.
## Etiology
NFJ is inherited as an autosomal dominant condition and is caused by mutations in the KRT14 gene (17q11.2-17q21) encoding keratin 14. The disease is allelic to dermatopathia pigmentosa reticularis (see this term).
## Diagnostic methods
Diagnosis is based on the typical clinical features and can be confirmed by molecular analysis.
## Differential diagnosis
Differential diagnoses include incontinentia pigmenti, dermatopathia pigmentosa reticularis, dyskeratosis congenita, pachyonychia congenita and Dowling-Degos disease (see these terms).
## Antenatal diagnosis
Prenatal diagnosis has not been reported so far.
## Management and treatment
Treatment is symptomatic. The dry skin has to be moisturized with emollients, and hyperthermia should be prevented by use of appropriate clothing and physical cooling with wet dressings or cool water during warm periods. Dental care is imperative to prevent caries and tooth loss.
## Prognosis
The reticulate pigmentation fades after puberty and sometimes disappears completely in old age. Hypohidrosis, the most problematic symptom for patients, remains constant. Teeth are always severely affected, leading to early total loss.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Naegeli-Franceschetti-Jadassohn syndrome
|
c0343111
| 7,967 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69087
| 2021-01-23T18:30:08 |
{"gard": ["3912"], "mesh": ["C538331"], "omim": ["161000"], "umls": ["C0343111"], "icd-10": ["Q82.4"], "synonyms": ["NFJ syndrome", "Naegeli syndrome"]}
|
A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
## Epidemiology
Takayasu arteritis (TAK) prevalence has been estimated to be 13 to 40 per million habitants. Cases have been reported worldwide but TAK seems to be more frequent in asians. A high female-to-male sex ratio is well documented.
## Clinical description
TAK generally presents before 40 years, although rare pediatric cases are found. Active periods of inflammation may present with non-specific features such as headache, malaise, palpitations, night sweats, polyarthralgia or arthritis, erythema nodosum-like or ulcerating nodular cutaneous lesions fever, fatigue, and weight loss. Vascular manifestations depend on the location and extent of vessel involvement and occurrence of complications (vascular stenoses, occlusions, and more rarely aneurysms). Clinical features include claudication, rest pain (limbs), hypertension (renal), headache, blurred or double vision, optic atrophy, transient ischemic attack, stroke and seizures. Cardiovascular manifestations include bruit, murmurs, blood pressure difference of extremities, carotidodynia, congestive heart failure, aortic regurgitation or insufficiency, pulmonary hypertension and aortic or arterial aneurysm. Pulmonary artery involvement may result in pulmonary hypertension and coronary or bronchial-pulmonary shunts.
## Etiology
The etiology of the inflammatory vasculitis in TAK is unknown. An underlying inflammatory mechanism and genetic factors are thought to play a role. Genetic studies have found HLA B-52 to be related to TAK. Recent GWAS studies revealed single nucleotide polymorphism association of TAK to IL12B and FCGR2A/3A.
## Diagnostic methods
The diagnosis is difficult to establish and is frequently delayed (years or even decades). It is based on the clinical features and physical examination. Vascular manifestations could guide morphologic investigations. However, the main change is related to the use of noninvasive imaging techniques (ultrasound, magnetic resonance imaging, CT angiography and positon emission tomography). Such exams could allow early diagnosis by demonstrating arterial wall thickening or inflammation in the pre-stenotic phase.
## Differential diagnosis
The differential diagnosis of TAK is very broad and may include other inflammatory diseases (atherosclerosis, giant cell arteritis, IgG4 related aortitis), infectious aortitis and fibromuscular dysplasia.
## Management and treatment
Treatment and management depend on disease severity and the specific complications. Corticosteroid therapy is the main treatment modality for TAK although it is associated with known long-term adverse effects. Remission following immunosuppressive therapy is achieved in about 60% of cases. Other immunosuppressive agents may be needed to achieve relapse (methotrexate, azathioprine, mycophenolate mofetil, leflunomide, tacrolimus, or cyclophosphamide). Biologic drugs, first of all anti-TNF alpha and probably anti-IL6 could be used in patients resistant or intolerant to conventional treatment. Vascular interventions are used to re-establish vascular patency in stenosed and occluded arteries that cause organ ischemia or hypertension, and for aneurysmal disease.
## Prognosis
TAK is associated with significant morbidity, especially when diagnosed late, and may be life-threatening in severe cases. Adverse effects from long-term corticosteroid therapy may reduce quality of life.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Takayasu arteritis
|
c0039263
| 7,968 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3287
| 2021-01-23T17:54:49 |
{"gard": ["7730"], "mesh": ["D013625"], "omim": ["207600"], "umls": ["C0039263"], "icd-10": ["M31.4"]}
|
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).
## Frequency
DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe.
Although DRPLA is rare in the United States, it has been studied in a large African American family from the Haw River area of North Carolina. When the family was first identified, researchers named the disorder Haw River syndrome. Later, researchers determined that Haw River syndrome and DRPLA are the same condition.
## Causes
DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain.
The ATN1 mutation that underlies DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, this segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times, and the repeat region may be two or three times its usual length. The abnormally long CAG trinucleotide repeat changes the structure of atrophin 1. This altered protein accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA.
### Learn more about the gene associated with Dentatorubral-pallidoluysian atrophy
* ATN1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. Larger repeat expansions are usually associated with an earlier onset of the disorder and more severe signs and symptoms. This phenomenon is called anticipation. Anticipation tends to be more prominent when the ATN1 gene is inherited from a person's father (paternal inheritance) than when it is inherited from a person's mother (maternal 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
|
Dentatorubral-pallidoluysian atrophy
|
c0751781
| 7,969 |
medlineplus
|
https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/
| 2021-01-27T08:25:25 |
{"gard": ["5643"], "mesh": ["D020191"], "omim": ["125370"], "synonyms": []}
|
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the 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
|
Neuronal ceroid lipofuscinosis 9
|
c1836841
| 7,970 |
gard
|
https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9
| 2021-01-18T17:58:43 |
{"mesh": ["C537953"], "omim": ["609055"], "umls": ["C1836841"], "orphanet": ["228357"], "synonyms": ["CLN 9"]}
|
Dermatomycosis
Micrograph of a superficial dermatomycosis. The fungal organisms are the dark staining, thick, quasi-linear objects below with skin surface. Vulvar biopsy. GMS stain.
SpecialtyInfectious disease
A dermatomycosis is a skin disease caused by a fungus.[1] This excludes dermatophytosis.
Examples of dermatomycoses are tinea and cutaneous candidiasis.
## References[edit]
1. ^ "dermatomycosis" at Dorland's Medical Dictionary
## External links[edit]
Classification
D
* ICD-10: B35-B36
* ICD-9-CM: 110-111
* MeSH: D003881
* DiseasesDB: 32449
* SNOMED CT: 14560005
* 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
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
|
Dermatomycosis
|
c0011630
| 7,971 |
wikipedia
|
https://en.wikipedia.org/wiki/Dermatomycosis
| 2021-01-18T18:51:20 |
{"mesh": ["D003881"], "umls": ["C0011630"], "icd-10": ["B36", "B35"], "wikidata": ["Q3705876"]}
|
Ectopic testis
SpecialtyUrology
A ectopic testis is a testicle that, although not an undescended testicle, has taken a non-standard path through the body and ended up in an unusual location.[citation needed]
The positions of the ectopic testis may be: in the lower part of the abdomen, front of thigh, femoral canal, skin of penis or behind the scrotum. The testis is usually developed, and accompanied by an indirect inguinal hernia. It may be divorced from the epididymis which may lie in the scrotum.[1][2]
## See also[edit]
* Cryptorchidism
* Orchiopexy
## References[edit]
1. ^ Stevenson, Roger; Hall, Judith (2006). Human malformations and related anomalies. Oxford New York: Oxford University Press. p. 1272. ISBN 0-19-516568-3.
2. ^ "Ectopic testis". GP Notebook. Retrieved 2011-12-15.
## External links[edit]
Classification
D
* ICD-10: Q53.0
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Ectopic testis
|
c0302889
| 7,972 |
wikipedia
|
https://en.wikipedia.org/wiki/Ectopic_testis
| 2021-01-18T18:54:00 |
{"icd-10": ["Q53.0"], "wikidata": ["Q3047124"]}
|
Piriformis syndrome is a rare neuromuscular condition that occurs when the piriformis muscle in the buttocks presses on the sciatic nerve. The condition is primarily associated with sciatica; however, other symptoms may include tenderness, aching, tingling and/or numbness of the buttock and pain when sitting for a long period of time, climbing stairs, walking or running. Piriformis syndrome is caused by damage, irritation or overuse of the piriformis muscle which can make the muscle swell or tighten. This puts pressure on the nerve beneath it (the sciatic nerve) which leads to the signs and symptoms of the condition. In many cases, medical treatment may not be needed and home remedies (such as avoiding activities that trigger pain, over-the-counter pain medications, ice packs, heating pads, and stretching exercises) can help alleviate symptoms. In more severe cases, muscle relaxants, electrotherapy, or even surgery may be recommended.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Piriformis syndrome
|
c0458224
| 7,973 |
gard
|
https://rarediseases.info.nih.gov/diseases/10026/piriformis-syndrome
| 2021-01-18T17:58:18 |
{"mesh": ["D055958"], "synonyms": ["Hip socket neuropathy", "Pseudosciatica", "Wallet sciatica", "Deep gluteal syndrome", "Pyriformis syndrome"]}
|
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were 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
|
Parietal foramina with clavicular hypoplasia
|
c1868597
| 7,974 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251290
| 2021-01-23T17:55:02 |
{"mesh": ["C566825"], "omim": ["168550"], "umls": ["C1868597"], "icd-10": ["Q74.0"], "synonyms": ["Parietal foramina with cleidocranial dysplasia"]}
|
For general information on malaria and the influence of genetic factors on malaria susceptibility, progression, severity, and resistance, see 611162.
Mapping
Timmann et al. (2007) identified 108 rural Ghanaian families exposed to hyperendemic malaria transmission who did not carry any classic malaria resistance genes. Of these families, 392 sibs aged 11 years or younger were characterized for malaria susceptibility by monitoring parasite counts, malaria fever episodes, and anemia over an 8-month period. Autosomewide linkage analysis in 68 families including 330 sib pairs revealed significant association between malaria fever episodes and a locus on chromosome 10p15 that the authors termed PFFE1.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1
|
c1969647
| 7,975 |
omim
|
https://www.omim.org/entry/611384
| 2019-09-22T16:03:21 |
{"omim": ["611384"], "synonyms": ["Alternative titles", "PFFE1", "MALARIA FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1"]}
|
Meningitis caused by a fungal infection
Fungal meningitis
Fungus (black) in brain tissue
SpecialtyInfectology, neurology
Fungal meningitis refers to meningitis caused by a fungal infection.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Outbreaks
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
See also: Meningitis
Symptoms of fungal meningitis are generally similar to those of other types of meningitis, and include: a fever, stiff neck, severe headache, photophobia (sensitivity to light), nausea and vomiting, and altered mental status (drowsiness or confusion).[1][2]
## Causes[edit]
Fungal meningitis may be caused by the following (and also other) types of fungi:[1][2][3]
* Candida \- C. albicans is the most common Candida species that causes infections of the central nervous system.
* Coccidioides \- it is endemic to southwestern United States and Mexico. A third of patients presenting with disseminated coccidioidomycosis have developed meningitis.
* Histoplasma \- occurs in bird and bat droppings and is endemic to parts of the United States, South, and Central America. Involvement of the central nervous system occurs in about 10-20% of cases of disseminated histoplasmosis.
* Blastomyces \- occurs in soil rich in decaying organic matter in the Midwest United States. Meningitis is an unusual manifestation of blastomycosis and can be very difficult to diagnose.
* Cryptococcus (Cryptococcal meningitis) - it is thought to be acquired through inhalation of soil contaminated with bird droppings. C. neoformans is the most common pathogen to cause fungal meningitis.
* Aspergillus \- Aspergillus infections account for 5% of fungal infections involving the central nervous system.
### Risk factors[edit]
Individuals with a weak immune system are most at risk. This includes individuals taking immunosuppressive medication, cancer patients, HIV patients, premature babies with very low birth weight,[2][3] the elderly,[4] etc.
People who are at an increased risk of acquiring particular fungal infections in general may also be at an increased risk of developing fungal meningitis, as the infection may in some cases spread to the central nervous system. People residing in the Midwestern United States, and Southwestern United States and Mexico are at an increased risk of infection with Histoplasma and Coccidioides, respectively.[2][3]
## Diagnosis[edit]
If suspected, fungal meningitis is diagnosed by testing blood and cerebrospinal fluid for pathogens. Identifying the specific pathogen is necessary to determine the proper course of treatment and the prognosis.[2] Measurement of opening pressure, cell count with differential, glucose and protein concentrations, Gram's stain, India ink, and culture tests should be performed on cerebrospinal fluid when fungal meningitis is suspected.[3]
## Treatment[edit]
Fungal meningitis is treated with long courses of high dose antifungal medications. The duration of treatment is dependent upon the causal pathogen and the patient's ability to stave off the infection; for patients with a weaker immune system or diabetes, treatment will often take longer.[2]
## Prognosis[edit]
Prognosis depends on the pathogen responsible for the infection and risk group. Overall mortality for Candida meningitis is 10-20%, 31% for patients with HIV, and 11% in neurosurgical cases (when treated). Prognosis for Aspergillus and coccidioidal infections is poor.[3]
## Outbreaks[edit]
E. Rostratum
Main article: New England Compounding Center meningitis outbreak
As of November 5, 2012, the CDC reported that 409 patients had laboratory-confirmed fungal meningitis caused by injections with contaminated medication. There had been 30 fatalities. A black mold, Exserohilum rostratum, was found in 45 of these cases. Aspergillus fumigatus was found in one case, and a Cladosporium species was found in one case.[5]
Aspergillus has been very rarely associated with meningitis[6] while cases caused explicitly by Exserohilum in otherwise healthy individuals have not been previously reported.[7]
## See also[edit]
* Meningitis
* Cryptococcal meningitis
## References[edit]
1. ^ a b "Meningitis". Paediatrics & Child Health. 6 (3): 126–7. March 2001. doi:10.1093/pch/6.3.126. PMC 2804524. PMID 20084221.
2. ^ a b c d e f "Meningitis | Fungal Meningitis". www.cdc.gov. Retrieved 29 November 2017.
3. ^ a b c d e Gottfredsson M, Perfect JR (2000). "Fungal meningitis". Seminars in Neurology. 20 (3): 307–22. doi:10.1055/s-2000-9394. PMID 11051295.
4. ^ Sirven JI, Malamut BL (2008). Clinical neurology of the older adult (2nd ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 978-0-7817-6947-1. OCLC 169452993.
5. ^ "Current Situation:CDC Responds to Multistate Fungal Meningitis Outbreak". CDC. 18 October 2012. Retrieved 21 October 2012.
6. ^ Badiee P, Alborzi A (November 2011). "Assessment of a real-time PCR method to detect human non-cryptococcal fungal meningitis" (PDF). Archives of Iranian Medicine. 14 (6): 381–4. PMID 22039841.
7. ^ Adler A, Yaniv I, Samra Z, Yacobovich J, Fisher S, Avrahami G, Levy I (April 2006). "Exserohilum: an emerging human pathogen". European Journal of Clinical Microbiology & Infectious Diseases. 25 (4): 247–53. doi:10.1007/s10096-006-0093-3. PMID 16511679.
## External links[edit]
Classification
D
* MeSH: D016921
* 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
* t
* e
Meningitis and other diseases of meninges
Meningitis
* Arachnoiditis
* Bacterial
* Tuberculous
* Haemophilus
* Pneumococcal
* Viral
* Herpesviral
* Fungal
* Cryptococcal
* Aseptic
* Drug-induced
Other
* Meningoencephalitis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Fungal meningitis
|
c0085438
| 7,976 |
wikipedia
|
https://en.wikipedia.org/wiki/Fungal_meningitis
| 2021-01-18T18:36:20 |
{"mesh": ["D016921"], "umls": ["C0085438"], "wikidata": ["Q5509169"]}
|
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
|
None
| 7,977 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2443
| 2021-01-23T17:44:13 |
{"synonyms": ["Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies", "OXPHOS disease due to nDNA anomalies", "OXPHOS disease due to nuclear DNA anomalies"]}
|
## Description
GVINP1, the only human ortholog of the mouse very large interferon-inducible (VLIG) genes, appears to be a pseudogene (Klamp et al., 2003).
Cloning and Expression
Klamp et al. (2003) cloned mouse Gvin1, which they called Vlig1. The predicted 2,427-amino acid protein contains canonical GTPase and GTP-binding motifs and shares homology with GBP1 (600411). EST database analysis revealed a human ortholog of Vlig1, but frameshifts in the ORF make it unlikely that human VLIG1 encodes a functional protein. Northern blot analysis revealed low basal expression of Vlig1 in mouse lung, heart, thymus, and spleen, with lower levels in other adult tissues. No expression was detected in embryonic mouse tissues.
Gene Function
Klamp et al. (2003) found that expression of Vlig1 was induced in mouse liver after intraperitoneal infection with Listeria monocytogenes in a gamma-interferon (IFNG; 147570)-dependent manner. Ifng and, to a lesser extent, beta-interferon (IFNB; 147640) induced expression of Vlig1 in mouse macrophages and embryonic fibroblasts. Vlig1 expression was independent of interferon regulatory factor-1 (IRF1; 147575). Immunofluorescence microscopy demonstrated Vlig1 expression in cytoplasm and nucleus following stimulation with Ifng.
Gene Structure
Klamp et al. (2003) determined that the mouse Vlig1 gene contains 4 exons, with the entire coding sequence in the last exon. They found that the human gene also contains 4 exons, but that the ORF in the last exon is interrupted by frameshifts.
Mapping
By database analysis, Klamp et al. (2003) found that the human GVINP1 pseudogene maps to chromosome 11p15.4. The functional mouse Gvin1 gene maps to chromosome 7.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
GTPase, VERY LARGE INTERFERON-INDUCIBLE, PSEUDOGENE 1
|
c3889637
| 7,978 |
omim
|
https://www.omim.org/entry/616121
| 2019-09-22T15:49:56 |
{"omim": ["616121"], "synonyms": ["Alternative titles", "VERY LARGE INDUCIBLE GTPase 1"]}
|
High-grade prostatic intraepithelial neoplasia
Other namesProstatic intraepithelial neoplasia
Micrograph showing high-grade prostatic intraepithelial neoplasia. H&E stain.
SpecialtyUrology
High-grade prostatic intraepithelial neoplasia (HGPIN) is an abnormality of prostatic glands and believed to precede the development of prostate adenocarcinoma (the most common form of prostate cancer).[1][2]
It may be referred to simply as prostatic intraepithelial neoplasia (PIN). It is considered to be a pre-malignancy, or carcinoma in situ, of the prostatic glands.
## Contents
* 1 Signs and symptoms
* 1.1 Relation to prostate cancer
* 2 Histology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 History
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
HGPIN in isolation is asymptomatic. It is typically discovered in prostate biopsies taken to rule-out prostate cancer and very frequently seen in prostates removed for prostate cancer.
### Relation to prostate cancer[edit]
There are several reasons why PIN is the most likely prostate cancer precursor.[3] PIN is more common in men with prostate cancer. High grade PIN can be found in 85 to 100% of radical prostatectomy specimens,[4] nearby or even in connection with prostate cancer. It tends to occur in the peripheral zone of the prostate. With age, it becomes increasingly multifocal, like prostate cancer. Molecular analysis has shown that high grade PIN and prostate cancer share many genetic abnormalities.[5] This has been confirmed in a transgenic mouse model.
The risk for men with high grade PIN of being diagnosed with prostate cancer after repeat biopsy has decreased since the introduction of biopsies at more than six locations (traditional sextant biopsies).[3]
## Histology[edit]
High-grade prostatic intraepithelial neoplasia.
HGPIN typically has one of four different histologic patterns:[2]
* tufted,
* micropapillary,
* cribriform and,
* flat.
Its cytologic features are that of prostatic adenocarcinoma:
* presence of nucleoli,
* increased nuclear-to-cytoplasmic ratio and,
* increased nuclear size.
Microscopically, PIN is a collection of irregular, atypical epithelial cells. The architecture of the glands and ducts remains normal. The epithelial cells proliferate and crowding results in a pseudo-multilayer appearance. They remain fully contained within a prostate acinus (the berry-shaped termination of a gland, where the secretion is produced) or duct. The latter can be demonstrated with special staining techniques (immunohistochemistry for cytokeratins) to identify the basal cells forming the supporting layer of the acinus. In prostate cancer, the abnormal cells spread beyond the boundaries of the acinus and form clusters without basal cells. In HGPIN, the basal cell layer is disrupted but present. PIN is primarily found in the peripheral zone of the prostate (75-80%), rarely in the transition zone (10-15%) and very rarely in the central zone (5%), a distribution that parallels the zonal distribution for prostate carcinoma.[6]
Because it is thought to be a premalignant state, PIN is often considered the prostate equivalent of what is called carcinoma in situ (localized cancer) in other organs. However, PIN differs from carcinoma in situ in that it may remain unchanged or even spontaneously regress.
Several architectural variants of PIN have been described, and many cases have multiple patterns. The main ones are tufting, micropapillary, cribriform, and flat. Although these different appearances may cause confusion with other conditions, they have not been found to be of clinical importance. Rarer types are signet-ring-cell, small-cell-neuroendocrine, mucinous, foamy, inverted, and with squamous differentiation.[3]
## Diagnosis[edit]
HGPIN is diagnosed from tissue by a pathologist, which may come from:
* a needle biopsy taken via the rectum and,
* surgical removal of prostate tissue:
* transurethral resection of the prostate \- removal of extra prostate tissue to improve urination (a treatment for benign prostatic hyperplasia),
* radical prostatectomy \- complete removal of prostate and seminal vesicles (a treatment for prostate cancer).
Blood tests for prostate specific antigen (PSA), digital rectal examination, ultrasound scanning of the prostate via the rectum, fine needle aspiration or medical imaging studies (such as magnetic resonance imaging) are not useful for diagnosing HGPIN.
## Treatment[edit]
HGPIN in isolation does not require treatment. In prostate biopsies it is not predictive of prostate cancer in one year if the prostate was well-sampled, i.e. if there were 8 or more cores.[7]
The exact timing of repeat biopsies remains an area of controversy, as the time required for, and probability of HGPIN transformations to prostate cancer are not well understood.
## Prognosis[edit]
On a subsequent biopsy, given a history of a HGPIN diagnosis, the chance of finding prostatic adenocarcinoma is approximately 30%.[8]
## History[edit]
PIN was historically subdivided into different stages, based on the level of cell atypia. PIN was formerly classified as PIN 1, 2 or 3, in order of increasing cell irregularities. Nowadays, PIN 1 is referred to as low grade PIN, and PIN 2 and PIN 3 are grouped together as high grade PIN.[9] Only high grade PIN has been shown to be a risk factor for prostate cancer. Because low grade PIN has no significance and does not require repeat biopsies or treatment, it is not mentioned in pathology reports. As such, PIN has become synonymous with high grade PIN.
## See also[edit]
* Atypical small acinar proliferation
## References[edit]
1. ^ Montironi R, Mazzucchelli R, Lopez-Beltran A, Cheng L, Scarpelli M (June 2007). "Mechanisms of disease: high-grade prostatic intraepithelial neoplasia and other proposed preneoplastic lesions in the prostate". Nat Clin Pract Urol. 4 (6): 321–32. doi:10.1038/ncpuro0815. PMID 17551536.
2. ^ a b Bostwick DG, Qian J (March 2004). "High-grade prostatic intraepithelial neoplasia". Mod. Pathol. 17 (3): 360–79. doi:10.1038/modpathol.3800053. PMID 14739906.
3. ^ a b c Montironi R, Mazzucchelli R, Lopez-Beltran A, Cheng L, Scarpelli M (June 2007). "Mechanisms of disease: high-grade prostatic intraepithelial neoplasia and other proposed preneoplastic lesions in the prostate". Nat Clin Pract Urol. 4 (6): 321–32. doi:10.1038/ncpuro0815. PMID 17551536.
4. ^ Godoy G, Taneja SS (2008). "Contemporary clinical management of isolated high-grade prostatic intraepithelial neoplasia". Prostate Cancer Prostatic Dis. 11 (1): 20–31. doi:10.1038/sj.pcan.4501014. PMID 17909565.
5. ^ Hughes C, Murphy A, Martin C, Sheils O, O'Leary J (July 2005). "Molecular pathology of prostate cancer". J. Clin. Pathol. 58 (7): 673–84. doi:10.1136/jcp.2002.003954. PMC 1770715. PMID 15976331.
6. ^ Ayala, AG; Ro, JY (August 2007). "Prostatic intraepithelial neoplasia: recent advances". Archives of Pathology & Laboratory Medicine. 131 (8): 1257–66. doi:10.1043/1543-2165(2007)131[1257:PINRA]2.0.CO;2. PMID 17683188.
7. ^ Herawi, M.; Kahane, H.; Cavallo, C.; Epstein, JI. (Jan 2006). "Risk of prostate cancer on first re-biopsy within 1 year following a diagnosis of high grade prostatic intraepithelial neoplasia is related to the number of cores sampled". J Urol. 175 (1): 121–4. doi:10.1016/S0022-5347(05)00064-9. PMID 16406886.
8. ^ Leite KR, Camara-Lopes LH, Cury J, Dall'oglio MF, Sañudo A, Srougi M (June 2008). "Prostate cancer detection at rebiopsy after an initial benign diagnosis: results using sextant extended prostate biopsy". Clinics. 63 (3): 339–42. doi:10.1590/S1807-59322008000300009. PMC 2664245. PMID 18568243.
9. ^ Montironi R, Mazzucchelli R, Algaba F, Lopez-Beltran A (September 2000). "Morphological identification of the patterns of prostatic intraepithelial neoplasia and their importance". J. Clin. Pathol. 53 (9): 655–65. doi:10.1136/jcp.53.9.655. PMC 1731241. PMID 11041054.
## External links[edit]
Classification
D
* ICD-10: D07.5
* ICD-9-CM: 233.4
* v
* t
* e
* Tumors of the male urogenital system
Testicles
Sex cord–
gonadal stromal
* Sertoli–Leydig cell tumour
* Sertoli cell tumour
* Leydig cell tumour
Germ cell
G
* Seminoma
* Spermatocytic tumor
* Germ cell neoplasia in situ
NG
* Embryonal carcinoma
* Endodermal sinus tumor
* Gonadoblastoma
* Teratoma
* Choriocarcinoma
* Embryoma
Prostate
* Adenocarcinoma
* High-grade prostatic intraepithelial neoplasia
* HGPIN
* Small-cell carcinoma
* Transitional cell carcinoma
Penis
* Carcinoma
* Extramammary Paget's disease
* Bowen's disease
* Bowenoid papulosis
* Erythroplasia of Queyrat
* Hirsuties coronae glandis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
High-grade prostatic intraepithelial neoplasia
|
c1168327
| 7,979 |
wikipedia
|
https://en.wikipedia.org/wiki/High-grade_prostatic_intraepithelial_neoplasia
| 2021-01-18T18:47:29 |
{"umls": ["C1168327"], "icd-10": ["D07.5"], "wikidata": ["Q15731388"]}
|
Hysterotomy abortionBackground
Abortion typeSurgical
First use<1913
Gestation2nd Trimester and Later
Usage
U.S. figures include both hysterotomy and hysterectomy.
United States<0.01% (2016)
Infobox references
Hysterotomy abortion is a surgical procedure that removes an intact fetus from the uterus in a process similar to a cesarean section. The procedure is generally used after the failure of another method, or when such a procedure would be medically inadvisable, such as in the case of placenta accreta.[1]
In 2016, this method made up less than 0.01% of all abortions in the United States, with the CDC reporting only 51 having occurred due to the invasive and complex nature of the procedure, and the availability of much simpler and safer methods.[2]
## Contents
* 1 Indications
* 2 Procedure
* 3 History
* 4 References
## Indications[edit]
As with other abortion procedures, the purpose of a hysterotomy abortion is to end a pregnancy by removing the fetus and placenta. This method is the most dangerous of any abortion procedure, and has the highest complication rate.[1]
## Procedure[edit]
Hysterotomy is major abdominal surgery; it is generally only performed in hospitals and other advanced practice settings. The procedure is nearly identical to a cesarean section, with two main exceptions: the administration of a feticidal injection of digoxin or potassium chloride before the procedure to insure fetal demise, guaranteeing compliance with various laws on the subject, and preventing an unintended live birth; and the size of the incision, which is generally smaller than that of a cesarean section, as the fetus is generally not full term.[3]
## History[edit]
Scholarly sources place the use of this method since at least 1913.[4] Health officials in the United States warned practitioners against performing hysterotomy abortion in an outpatient setting after it led to the deaths of two women in New York during 1971.[5][6] The rate of mortality of abortion by hysterotomy and hysterectomy reported in the United States between 1972 and 1981 was 60 per 100,000, or 0.06%.[7]
## References[edit]
1. ^ a b Roche, Natalie E. (June 16, 2006). Surgical Management of Abortion. Retrieved July 1, 2007.
2. ^ Jatlaoui, Tara C. (2019). "Abortion Surveillance — United States, 2016". MMWR. Surveillance Summaries. 68 (11): 1–41. doi:10.15585/mmwr.ss6811a1. ISSN 1546-0738. PMID 31774741.
3. ^ "Abortion Guide". Friday, October 2, 2020
4. ^ Bonney, Victor (October 1918). "On Abdominal Evacuation of the Pregnant Uterus Before Viability". The Lancet. 192 (4964): 518. doi:10.1016/s0140-6736(01)02878-1. ISSN 0140-6736.
5. ^ Berger GS, Tietze C, Pakter J, Katz SH (March 1974). "Maternal mortality associated with legal abortion in New York State: July 1, 1970--June 30, 1972". Obstet Gynecol. 43 (3): 315–26. PMID 4814448.
6. ^ Stroh G, Katz SH, Hinman AR (October 1975). "Performing second-trimester abortions. Rationale for inpatient basis". N Y State J Med. 75 (12): 2168–71. PMID 1059921.
7. ^ Grimes DA, Schulz KF (July 1985). "Morbidity and mortality from second-trimester abortions". J Reprod Med. 30 (7): 505–14. PMID 3897528.
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This abortion-related article is a stub. You can help Wikipedia by expanding it.
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This human reproduction article is a stub. You can help Wikipedia by expanding it.
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* 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
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*[LUX]: Luxembourg
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*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Hysterotomy abortion
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None
| 7,980 |
wikipedia
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https://en.wikipedia.org/wiki/Hysterotomy_abortion
| 2021-01-18T18:44:42 |
{"umls": ["C2985298"], "wikidata": ["Q5962414"]}
|
Tada et al. (1963) described a 9-year-old girl with dwarfism, mental defect, cutaneous photosensitivity, and gait disturbance resembling cerebellar ataxia. The clinical features resembled Hartnup disease (234500) but the chemical findings were different. Tryptophane was excreted in the urine in excess without increase in indican or indole acetic acid excretion. With tryptophane loading, the plasma level of tryptophane increased markedly and remained higher longer than in normals and tryptophanuria was increased with relatively little increase in kynurenine excretion. The defect was thought to concern the conversion of tryptophane to kynurenine. The disorder was thought to have occurred in 3 children (2 males and the female proband) in 3 sibships. All 6 parents were traced to a common ancestral couple. The proband showed conjunctival telangiectasia which together with ataxia creates similarities to ataxia-telangiectasia (208900).
Eyes \- Conjunctival telangiectasia Neuro \- Mental retardation \- Gait disturbance \- Ataxia Inheritance \- Autosomal recessive Lab \- Tryptophanuria \- No excess indican or indole acetic acid excretion \- Tryptophane to kynurenine conversion defect Growth \- Dwarfism Skin \- Cutaneous photosensitivity ▲ Close
*[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
|
TRYPTOPHANURIA WITH DWARFISM
|
c0268473
| 7,981 |
omim
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https://www.omim.org/entry/276100
| 2019-09-22T16:21:28 |
{"mesh": ["C562658"], "omim": ["276100"]}
|
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: "Parcopresis" – news · newspapers · books · scholar · JSTOR (November 2012) (Learn how and when to remove this template message)
The topic of this article may not meet Wikipedia's general notability guideline. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, the article is likely to be merged, redirected, or deleted.
Find sources: "Parcopresis" – news · newspapers · books · scholar · JSTOR (April 2014) (Learn how and when to remove this template message)
Parcopresis
Other namesPsychogenic fecal retention
SpecialtyPsychology
Parcopresis, also termed psychogenic fecal retention, is the inability to defecate without a certain level of privacy. The level of privacy involved varies from sufferer to sufferer. The condition has also been termed shy bowel. This is to be distinguished from the embarrassment that many people experience with defecation in that it produces a physical inability, albeit of psychological origin.
Parcopresis is not a medically recognized condition.[1]
## Contents
* 1 History
* 2 Treatment
* 3 See also
* 4 References
* 5 Further reading
* 6 External links
## History[edit]
Parcopresis is described as an inability to defecate when other people are perceived or are likely to be nearby (e.g., in the same public toilet, house or building). This inability affects the sufferer's lifestyle to varying degrees, ranging from the urge to defecate only in a limited number of “safe” places, to — in less severe presentations — allowing for defecation in places where the person is unknown and unlikely to become known in the future, such that any embarrassment is unlikely to have consequences lasting beyond the defecative episode itself. The level of restriction varies depending on the severity of each sufferer's condition.
## Treatment[edit]
One form of treatment is cognitive behavioral therapy which promotes desensitization methods.[citation needed][dubious – discuss]
## See also[edit]
* Paruresis, an inability to urinate
* Encopresis
## References[edit]
1. ^ The Private Lives of Public Bathrooms - Julie Beck - The Atlantic
## Further reading[edit]
* Barros, Regis (December 2011). "Paruresis and Parcopresis in Social Phobia" (PDF). Brasilian Journal of Psychiatry. 33 (4): 416–417. doi:10.1590/S1516-44462011000400019. PMID 22189935.
## External links[edit]
This psychiatry-related article is a stub. You can help Wikipedia by expanding it.
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* 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
|
Parcopresis
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None
| 7,982 |
wikipedia
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https://en.wikipedia.org/wiki/Parcopresis
| 2021-01-18T18:36:26 |
{"wikidata": ["Q7136497"]}
|
The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the five sarcoglycan genes: α, β, γ, δ or ε. The five sarcoglycanopathies are: α-sarcoglycanopathy, LGMD2D; β-sarcoglycanopathy, LGMD2E; γ-sarcoglycanopathy, LGMD2C; δ-sarcoglycanopathy, LGMD2F and ε-sarcoglycanopathy, myoclonic dystonia. The four different sarcoglycan genes encode proteins that form a tetrameric complex at the muscle cell plasma membrane. This complex stabilizes the association of dystrophin with the dystroglycans and contributes to the stability of the plasma membrane cytoskeleton. The four sarcoglycan genes are related to each other structurally and functionally, but each has a distinct chromosome location.
In outbred populations, the relative frequency of mutations in the four genes is alpha >> beta >> gamma >> delta in an 8:4:2:1 ratio. No common mutations have been identified in outbred populations except the R77C mutation, which accounts for up to one-third of the mutated SGCA alleles. Founder mutations have been observed in certain populations.[1] A 1997 Italian clinical study demonstrated variations in muscular dystrophy progression dependent on the sarcoglycan gene affected.[2]
## References[edit]
1. ^ GeneReviews/NCBI/NIH/UW entry on Limb-Girdle Muscular Dystrophy Overview Retrieved 2012-04-09.
2. ^ Angelini C, Fanin M, Freda MP, Duggan DJ, Siciliano G, Hoffman EP (January 1999). "The clinical spectrum of sarcoglycanopathies". Neurology. 52 (1): 176–9. doi:10.1212/WNL.52.1.176. PMID 9921870.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Sarcoglycanopathy
|
c2936331
| 7,983 |
wikipedia
|
https://en.wikipedia.org/wiki/Sarcoglycanopathy
| 2021-01-18T18:56:15 |
{"mesh": ["D058088"], "umls": ["C2936331"], "orphanet": ["207052"], "wikidata": ["Q7423586"]}
|
Critical illness–related corticosteroid insufficiency
Other namesCIRCI
Critical illness-related corticosteroid insufficiency is a form of adrenal insufficiency in critically ill patients who have blood corticosteroid levels which are inadequate for the severe stress response they experience. Combined with decreased glucocorticoid receptor sensitivity and tissue response to corticosteroids, this adrenal insufficiency constitutes a negative prognostic factor for intensive care patients.[1]
The hypothalamic-pituitary-adrenal axis (HPA axis), in which the hypothalamus and pituitary gland control adrenal secretions, undergoes profound changes during critical illness. Both very high and very low levels of cortisol have been linked to a poor outcome in intensive care patients.[2] It has been suggested that high levels could represent severe stress, whereas low levels are due to blunted cortisol production and response.[3]
CIRCI can be suspected in patients with low blood pressure despite resuscitation with intravenous fluids and vasopressor drugs.[4] The Surviving Sepsis Campaign guidelines advocate intravenous hydrocortisone only in adults with septic shock and refractory hypotension.[4] The exact definition of this condition, the best ways to test for corticoid insufficiency in critically ill patients, and the therapeutic use of (usually low doses) of corticosteroids remains a subject of debate.[5]
## Contents
* 1 Signs and symptoms
* 2 Physiology
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
## Signs and symptoms[edit]
The best known feature that suggests a possible underlying adrenal insufficiency is low blood pressure despite resuscitation with intravenous fluids, requiring vasopressor drugs.[4] These patients typically display tachycardia and other signs of hyperdynamic shock.[5] Other symptoms include fever, purpura fulminans, and gastrointestinal or neurological disturbances.[5] All these features are relatively non-specific in intensive care patients.[5]
In some patients a specific reason for adrenal insufficiency can be suspected, such as prior intake of corticosteroids that suppressed the HPA axis, or use of enzyme inducing drugs such as phenytoin.[5] Treatment with imidazole drugs such as etomidate, ketoconazole and miconazole can also suppress the HPA axis, as well as drugs used specifically for this purpose, such as metyrapone.[6]
Several blood test abnormalities can suggest corticosteroid insufficiency, such as hypoglycemia, hyponatremia, hyperkalemia, hypercalcemia, neutropenia, eosinophilia, hyperprolactinemia, and hypothyroidism.[5]
## Physiology[edit]
In acute states of severe stress, cortisol secretion by the adrenal gland increases up to sixfold, parallel to the severity of the condition.[7] This is partly due to an increased secretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH). Several cytokines have been also shown to interfere with the HPA axis at multiple levels.[8] There is also an increase in the number and affinity of glucocorticoid receptors.[5] Levels of corticosteroid-binding globulin (CBG) and albumin, which normally bind cortisol, are decreased, resulting in increased levels of free cortisol.[7] Furthermore, anaesthesia drugs like etomidate could interfere with the HPA axis.[9] The secretion also loses its normal diurnal pattern of morning peak levels and evening and night time troughs.[10] Nevertheless, secretion remains pulsatile and there is a marked variation in blood samples from the same individual.[11]
High blood levels of cortisol during critical illness could theoretically be protective because of several reasons. They modulate metabolism (for example, by inducing high blood sugar levels, thereby providing energy to the body). They also suppress excessive immune system activation and exert supporting effects on the circulatory system.[8][12] Increased susceptibility to infections, hyperglycemia (in patients already prone to stress hyperglycemia), gastrointestinal bleeding, electrolyte disturbances and steroid-induced myopathy (in patients already prone to critical illness polyneuropathy) are possible harmful effects.[5]
Blood levels of dehydroepiandrosterone increase, and levels of dehydroepiandrosterone sulfate decrease in response to critical illness.[13][14][15]
In the chronic phase of severe illness, cortisol levels decrease slowly and return to normal when the patient recovers. ACTH levels are however low, and CBG levels increase.[5]
## Diagnosis[edit]
The exact diagnostic tests and cut-off values to diagnose critical illness-related corticosteroid insufficiency are not agreed upon.[1] This also applies to the distinction between absolute and relative adrenal insufficiency, a reason why the term critical illness–related corticosteroid insufficiency is preferred to relative adrenal insufficiency.[5] The variation in cortisol levels according to disease type and severity, as well as variation within the same patient, hampers the establishment of a clear threshold below which CIRCI occurs.[5] Moreover, in patients whose adrenal glands are already maximally stimulated, a stimulation test would not be informative.[5] Furthermore, a short test might not adequately assess response to the chronic stress of critical illness.[5]
Both random total cortisol levels, total cortisol levels or increment after ACTH stimulation tests, free cortisol levels, or a combination of these have been proposed as diagnostic tests. Other stimulation tests for adrenal insufficiency which are used in non-critical patients, such as the test using metyrapone or a test which employs insulin to induce hypoglycemia, are not preferred for CIRCI.[5] Both a metyrapone-induced decrease in cortisol and hypoglycemia are potentially harmful to intensive care patients. The exact dose of ACTH remains a matter of debate.[16] In the CORTICUS study, ACTH stimulation testing predicted mortality whereas baseline cortisol levels did not.[17] However, possible benefits of corticosteroid therapy do not seem to be completely predicted by ACTH stimulation testing.[18][19] For these reasons, guidelines currently do not recommend that ACTH stimulation testing should guide the decision whether or not to administer corticosteroids.[1][4] Cortisol immunoassays on the other hand have been shown to be prone to both over- and underestimation.[4]
## Treatment[edit]
In adults with septic shock and refractory hypotension despite resuscitation with intravenous fluids and vasopressors, hydrocortisone is the preferred corticosteroid. It can be divided in several doses or administered as a continuous infusion.[1] Fludrocortisone is optional in CIRCI, and dexamethasone is not recommended.[4] Little evidence is available to judge when and how corticosteroid therapy should be stopped; guidelines recommend tapering corticosteroids when vasopressors are no longer needed.[1][4]
Corticosteroid treatment has also been suggested as an early treatment option in patient with acute respiratory distress syndrome. Steroids have not been shown beneficial for sepsis alone.[20] Historically, higher doses of steroids were given, but these have been suggested to be harmful compared to the lower doses which are advocated today.[21]
In the CORTICUS study, hydrocortisone hastened the reversal of septic shock, but did not influence mortality, with an increased occurrence of septic shock relapse and hypernatremia.[18] The latter findings tempered enthusiasm for the broad use of hydrocortisone in septic shock.[4] Prior to this study, several other smaller studies showed beneficial effects of long courses of low doses of corticoid.[19][22][23][24][25][26][27] Several factors (such as lack of statistical power due to slow recruitment) could have led a false-negative finding on mortality in the CORTICUS study; thus, more research is needed.[5]
## See also[edit]
* Adrenal insufficiency
* Addison's disease
* Cortisol
* Hypothalamic–pituitary–adrenal axis
* Glucocorticoids
## References[edit]
1. ^ a b c d e Marik PE, Pastores SM, Annane D, et al. (June 2008). "Recommendations for the diagnosis and management of corticosteroid insufficiency in critically ill adult patients: consensus statements from an international task force by the American College of Critical Care Medicine". Crit. Care Med. 36 (6): 1937–49. doi:10.1097/CCM.0b013e31817603ba. PMID 18496365. S2CID 7861625.
2. ^ Rothwell PM, Lawler PG (January 1995). "Prediction of outcome in intensive care patients using endocrine parameters". Crit. Care Med. 23 (1): 78–83. doi:10.1097/00003246-199501000-00015. PMID 8001391.
3. ^ Annane D, Sébille V, Troché G, Raphaël JC, Gajdos P, Bellissant E (February 2000). "A 3-level prognostic classification in septic shock based on cortisol levels and cortisol response to corticotropin". JAMA. 283 (8): 1038–45. doi:10.1001/jama.283.8.1038. PMID 10697064.
4. ^ a b c d e f g h Dellinger RP, Levy MM, Carlet JM, et al. (January 2008). "Surviving Sepsis Campaign: international guidelines for management of severe sepsis and septic shock: 2008". Crit. Care Med. 36 (1): 296–327. doi:10.1097/01.CCM.0000298158.12101.41. PMC 4969965. PMID 18158437.
5. ^ a b c d e f g h i j k l m n o Mesotten D, Vanhorebeek I, Van den Berghe G (September 2008). "The altered adrenal axis and treatment with glucocorticoids during critical illness". Nat Clin Pract Endocrinol Metab. 4 (9): 496–505. doi:10.1038/ncpendmet0921. PMID 18695699. S2CID 39296294.
6. ^ Lamberts SW, Bons EG, Bruining HA, de Jong FH (January 1987). "Differential effects of the imidazole derivatives etomidate, ketoconazole and miconazole and of metyrapone on the secretion of cortisol and its precursors by human adrenocortical cells". J. Pharmacol. Exp. Ther. 240 (1): 259–64. PMID 3027305.
7. ^ a b Hamrahian AH, Oseni TS, Arafah BM (April 2004). "Measurements of serum free cortisol in critically ill patients". N. Engl. J. Med. 350 (16): 1629–38. doi:10.1056/NEJMoa020266. PMID 15084695. S2CID 26283794.
8. ^ a b Marik PE, Zaloga GP (November 2002). "Adrenal insufficiency in the critically ill: a new look at an old problem". Chest. 122 (5): 1784–96. doi:10.1378/chest.122.5.1784. PMID 12426284. Archived from the original on 2013-04-14.
9. ^ Duthie DJ, Fraser R, Nimmo WS (February 1985). "Effect of induction of anaesthesia with etomidate on corticosteroid synthesis in man". Br J Anaesth. 57 (2): 156–9. doi:10.1093/bja/57.2.156. PMID 2982387.
10. ^ Cooper MS, Stewart PM (February 2003). "Corticosteroid insufficiency in acutely ill patients". N. Engl. J. Med. 348 (8): 727–34. doi:10.1056/NEJMra020529. PMID 12594318. S2CID 45450887.
11. ^ Venkatesh B, Mortimer RH, Couchman B, Hall J (April 2005). "Evaluation of random plasma cortisol and the low dose corticotropin test as indicators of adrenal secretory capacity in critically ill patients: a prospective study". Anaesth Intensive Care. 33 (2): 201–9. doi:10.1177/0310057X0503300208. PMID 15960402.
12. ^ Van den Berghe G, de Zegher F, Bouillon R (June 1998). "Clinical review 95: Acute and prolonged critical illness as different neuroendocrine paradigms". J. Clin. Endocrinol. Metab. 83 (6): 1827–34. doi:10.1210/jc.83.6.1827. PMID 9626104.
13. ^ Arlt W, Hammer F, Sanning P, et al. (July 2006). "Dissociation of serum dehydroepiandrosterone and dehydroepiandrosterone sulfate in septic shock". J. Clin. Endocrinol. Metab. 91 (7): 2548–54. doi:10.1210/jc.2005-2258. PMID 16608898.
14. ^ Marx C, Petros S, Bornstein SR, et al. (May 2003). "Adrenocortical hormones in survivors and nonsurvivors of severe sepsis: diverse time course of dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and cortisol". Crit. Care Med. 31 (5): 1382–8. doi:10.1097/01.CCM.0000063282.83188.3D. PMID 12771606. S2CID 8740330.
15. ^ Vermes I, Beishuizen A (December 2001). "The hypothalamic-pituitary-adrenal response to critical illness". Best Pract. Res. Clin. Endocrinol. Metab. 15 (4): 495–511. doi:10.1053/beem.2001.0166. PMID 11800520.
16. ^ Widmer IE, Puder JJ, König C, et al. (August 2005). "Cortisol response in relation to the severity of stress and illness". J. Clin. Endocrinol. Metab. 90 (8): 4579–86. doi:10.1210/jc.2005-0354. PMID 15886236.
17. ^ Lipiner-Friedman D, Sprung CL, Laterre PF, et al. (April 2007). "Adrenal function in sepsis: the retrospective Corticus cohort study". Crit. Care Med. 35 (4): 1012–8. doi:10.1097/01.CCM.0000259465.92018.6E. PMID 17334243. S2CID 7942321.
18. ^ a b Sprung CL, Annane D, Keh D, et al. (January 2008). "Hydrocortisone therapy for patients with septic shock". N. Engl. J. Med. 358 (2): 111–24. doi:10.1056/NEJMoa071366. PMID 18184957. S2CID 30133725.
19. ^ a b Annane D, Sébille V, Charpentier C, et al. (August 2002). "Effect of treatment with low doses of hydrocortisone and fludrocortisone on mortality in patients with septic shock". JAMA. 288 (7): 862–71. doi:10.1001/jama.288.7.862. PMID 12186604.
20. ^ Lefering R, Neugebauer EA (July 1995). "Steroid controversy in sepsis and septic shock: a meta-analysis". Crit. Care Med. 23 (7): 1294–303. doi:10.1097/00003246-199507000-00021. PMID 7600840.
21. ^ Minneci PC, Deans KJ, Banks SM, Eichacker PQ, Natanson C (July 2004). "Meta-analysis: the effect of steroids on survival and shock during sepsis depends on the dose". Ann. Intern. Med. 141 (1): 47–56. doi:10.7326/0003-4819-141-1-200407060-00014. PMID 15238370.
22. ^ Annane D, Bellissant E, Bollaert PE, Briegel J, Keh D, Kupfer Y (August 2004). "Corticosteroids for severe sepsis and septic shock: a systematic review and meta-analysis". BMJ. 329 (7464): 480. doi:10.1136/bmj.38181.482222.55. PMC 515196. PMID 15289273.
23. ^ Briegel J, Forst H, Haller M, et al. (April 1999). "Stress doses of hydrocortisone reverse hyperdynamic septic shock: a prospective, randomized, double-blind, single-center study". Crit. Care Med. 27 (4): 723–32. doi:10.1097/00003246-199904000-00025. PMID 10321661.
24. ^ Bollaert PE, Charpentier C, Levy B, Debouverie M, Audibert G, Larcan A (April 1998). "Reversal of late septic shock with supraphysiologic doses of hydrocortisone". Crit. Care Med. 26 (4): 645–50. doi:10.1097/00003246-199804000-00010. PMID 9559600.
25. ^ Oppert M, Schindler R, Husung C, et al. (November 2005). "Low-dose hydrocortisone improves shock reversal and reduces cytokine levels in early hyperdynamic septic shock". Crit. Care Med. 33 (11): 2457–64. doi:10.1097/01.CCM.0000186370.78639.23. PMID 16276166. S2CID 24061299.
26. ^ Yildiz O, Doganay M, Aygen B, Güven M, Keleştimur F, Tutuû A (June 2002). "Physiological-dose steroid therapy in sepsis ISRCTN36253388". Crit Care. 6 (3): 251–9. doi:10.1186/cc1498. PMC 125315. PMID 12133187.
27. ^ Keh D, Boehnke T, Weber-Cartens S, et al. (February 2003). "Immunologic and hemodynamic effects of "low-dose" hydrocortisone in septic shock: a double-blind, randomized, placebo-controlled, crossover study". Am. J. Respir. Crit. Care Med. 167 (4): 512–20. doi:10.1164/rccm.200205-446OC. PMID 12426230.
* v
* t
* e
Intensive care medicine
* Health science
* Medicine
* Medical specialities
* Respiratory therapy
General terms
* Intensive care unit (ICU)
* Neonatal intensive care unit (NICU)
* Pediatric intensive care unit (PICU)
* Coronary care unit (CCU)
* Critical illness insurance
Conditions
Organ system failure
Shock sequence
SIRS
Sepsis
Severe sepsis
Septic shock
Multiple organ dysfunction syndrome
Other shock
Cardiogenic shock
Distributive shock
Anaphylaxis
Obstructive shock
Neurogenic shock
Spinal shock
Vasodilatory shock
Organ failure
Acute renal failure
Acute respiratory distress syndrome
Acute liver failure
Respiratory failure
Multiple organ dysfunction syndrome
* Neonatal infection
* Polytrauma
* Coma
Complications
* Critical illness polyneuropathy / myopathy
* Critical illness–related corticosteroid insufficiency
* Decubitus ulcers
* Fungemia
* Stress hyperglycemia
* Stress ulcer
Iatrogenesis
* Methicillin-resistant Staphylococcus aureus
* Oxygen toxicity
* Refeeding syndrome
* Ventilator-associated lung injury
* Ventilator-associated pneumonia
* Dialytrauma
Diagnosis
* Arterial blood gas
* Catheter
* Arterial line
* Central venous catheter
* Pulmonary artery catheter
* Blood cultures
* Screening cultures
Life-supporting treatments
* Airway management
* Chest tube
* Dialysis
* Enteral feeding
* Goal-directed therapy
* Induced coma
* Mechanical ventilation
* Therapeutic hypothermia
* Total parenteral nutrition
* Tracheal intubation
Drugs
* Analgesics
* Antibiotics
* Antithrombotics
* Inotropes
* Intravenous fluids
* Neuromuscular-blocking drugs
* Recombinant activated protein C
* Sedatives
* Stress ulcer prevention drugs
* Vasopressors
ICU scoring systems
* APACHE II
* Glasgow Coma Scale
* PIM2
* SAPS II
* SAPS III
* SOFA
Physiology
* Hemodynamics
* Hypotension
* Level of consciousness
* Acid–base imbalance
* Water-electrolyte imbalance
Organisations
* Society of Critical Care Medicine
* Surviving Sepsis Campaign
* European Society of Paediatric and Neonatal Intensive Care
Related specialties
* Anesthesiology
* Cardiology
* Internal medicine
* Neurology
* Pediatrics
* Pulmonology
* Surgery
* Traumatology
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Critical illness–related corticosteroid insufficiency
|
None
| 7,984 |
wikipedia
|
https://en.wikipedia.org/wiki/Critical_illness%E2%80%93related_corticosteroid_insufficiency
| 2021-01-18T18:52:27 |
{"wikidata": ["Q5186731"]}
|
A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background. The lesions are usually painful and affect the palms and soles, sometimes also the lateral aspects of hands and feet. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Pustulosis palmaris et plantaris
|
c0030246
| 7,985 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163927
| 2021-01-23T18:04:05 |
{"gard": ["12820"], "mesh": ["D011565"], "umls": ["C0030246"], "icd-10": ["L40.3"], "synonyms": ["LPP", "Localized pustular psoriasis", "PPP", "Palmoplantar pustulosis"]}
|
Rectovaginal fistula
Rectovaginal fistula
SpecialtyGynecology
Diagnostic method• No anal opening
• A gloved finger or thermometer cannot be inserted into the infants rectum • No history of passage of meconium • Presence of abdominal distension • Presence of meconium in urine
Rimple Sharma Essentila in Pediatric Nursing
TreatmentPSARP
A rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina.[1]
Rectovaginal fistulae may be extremely debilitating. If the opening between the rectum and vagina is wide it will allow both flatulence and feces to escape through the vagina, leading to fecal incontinence. There is an association with recurrent urinary and vaginal infections. The fistula may also connect the rectum and urethra, which is called recto-urethral fistula. Either conditions can lead to labial fusion. This type of fistula can cause pediatricians to misdiagnose imperforate anus. The severity of the symptoms will depend on the size of fistula. Most often, it appears after about one week or so after delivery.
## Contents
* 1 Causes
* 2 Treatment
* 3 References
* 4 External links
## Causes[edit]
Rectovaginal fistulas are often the result of trauma during childbirth (in which case it is known as obstetric fistula), with increased risk associated with significant lacerations or interventions are used such as episiotomy or operative (forceps/vacuum extraction) deliveries[2] or in situations where there is inadequate health care, such as in some developing countries. Rectovaginal fistula is said to be known as the leading cause in maternal death in developing countries.[3] Risk factors include prolonged labour, difficult instrumental delivery and paramedian episiotomy. Rates in Eritrea are estimated as high as 350 per 100,000 vaginal births. Fistulas can also develop as a result of physical trauma to either the vagina or anus, including from rape.[4] Women with rectovaginal fistulae are often stigmatized in developing countries, and become outcasts.[5]
Rectovaginal fistula can also be a symptom of various diseases, including infection by lymphogranuloma venereum,[6] or the unintended result of surgery, such as episiotomy or sexual reassignment surgery. They may present as a complication of vaginal surgery, including vaginal hysterectomy. They are a recognized presentation of rectal carcinoma or rarely diverticular disease of the bowel or Crohn's disease. They are seen rarely after radiotherapy treatment for cervical cancer.[citation needed]
## Treatment[edit]
After diagnosing rectovaginal fistula, it is best to wait for around 3 months to allow the inflammation to subside. For low fistulae, a vaginal approach is best, while an abdominal repair would be necessary for a high fistula at the posterior fornix.
A circular incision is made around the fistula and vagina is separated from the underlying rectum with a sharp circumferential dissection. The entire fistulous tract, along with a small rim of rectal mucosa is incised. The rectal wall is then closed extramucosally.[7]
Most rectovaginal fistulas will need surgery to fix. Medications such as antibiotics and Infliximab might be prescribed to help close the rectovaginal fistula or prepare for surgery.[8][9]
## References[edit]
1. ^ Kumaran SS, Palanivelu C, Kavalakat AJ, Parthasarathi R, Neelayathatchi M (2005). "Laparoscopic repair of high rectovaginal fistula: Is it technically feasible?". BMC Surg. 5: 20. doi:10.1186/1471-2482-5-20. PMC 1266383. PMID 16221302.
2. ^ http://www.fascrs.org/core-subject/rectovaginal-fistula-and-rectourethral-fistula
3. ^ Landry, 926
4. ^ Nordland, Rod. "Congo: More Vicious Than Rape". Newsweek. Retrieved 25 August 2019.
5. ^ Nolen, Stephanie. "Not Women Anymore..." Ms. Magazine. Archived from the original on 24 October 2018. Retrieved 25 August 2019.
6. ^ Lynch CM, Felder TL, Schwandt RA, Shashy RG (1999). "Lymphogranuloma venereum presenting as a rectovaginal fistula". Infect Dis Obstet Gynecol. 7 (4): 199–201. doi:10.1155/S1064744999000344. PMC 1784745. PMID 10449269.
7. ^ "Rectovaginal fistula: Treatment and Management". Medscape. Retrieved 14 August 2012.
8. ^ "Rectovaginal fistula Treatments and drugs - Mayo Clinic". www.mayoclinic.org. Retrieved 2015-12-14.
9. ^ Sands, Bruce E.; Anderson, Frank H.; Bernstein, Charles N.; Chey, William Y.; Feagan, Brian G.; Fedorak, Richard N.; Kamm, Michael A.; Korzenik, Joshua R.; Lashner, Bret A. (2004-02-26). "Infliximab maintenance therapy for fistulizing Crohn's disease". The New England Journal of Medicine. 350 (9): 876–885. doi:10.1056/NEJMoa030815. ISSN 1533-4406. PMID 14985485.
## External links[edit]
* Rectovaginal fistula at Curlie
Classification
D
* ICD-10: N82.3, Q52.2
* ICD-9-CM: 619.1
* MeSH: D012006
* DiseasesDB: 32573
External resources
* eMedicine: med/2745
* v
* t
* e
Female diseases of the pelvis and genitals
Internal
Adnexa
Ovary
* Endometriosis of ovary
* Female infertility
* Anovulation
* Poor ovarian reserve
* Mittelschmerz
* Oophoritis
* Ovarian apoplexy
* Ovarian cyst
* Corpus luteum cyst
* Follicular cyst of ovary
* Theca lutein cyst
* Ovarian hyperstimulation syndrome
* Ovarian torsion
Fallopian tube
* Female infertility
* Fallopian tube obstruction
* Hematosalpinx
* Hydrosalpinx
* Salpingitis
Uterus
Endometrium
* Asherman's syndrome
* Dysfunctional uterine bleeding
* Endometrial hyperplasia
* Endometrial polyp
* Endometriosis
* Endometritis
Menstruation
* Flow
* Amenorrhoea
* Hypomenorrhea
* Oligomenorrhea
* Pain
* Dysmenorrhea
* PMS
* Timing
* Menometrorrhagia
* Menorrhagia
* Metrorrhagia
* Female infertility
* Recurrent miscarriage
Myometrium
* Adenomyosis
Parametrium
* Parametritis
Cervix
* Cervical dysplasia
* Cervical incompetence
* Cervical polyp
* Cervicitis
* Female infertility
* Cervical stenosis
* Nabothian cyst
General
* Hematometra / Pyometra
* Retroverted uterus
Vagina
* Hematocolpos / Hydrocolpos
* Leukorrhea / Vaginal discharge
* Vaginitis
* Atrophic vaginitis
* Bacterial vaginosis
* Candidal vulvovaginitis
* Hydrocolpos
Sexual dysfunction
* Dyspareunia
* Hypoactive sexual desire disorder
* Sexual arousal disorder
* Vaginismus
* Urogenital fistulas
* Ureterovaginal
* Vesicovaginal
* Obstetric fistula
* Rectovaginal fistula
* Prolapse
* Cystocele
* Enterocele
* Rectocele
* Sigmoidocele
* Urethrocele
* Vaginal bleeding
* Postcoital bleeding
Other / general
* Pelvic congestion syndrome
* Pelvic inflammatory disease
External
Vulva
* Bartholin's cyst
* Kraurosis vulvae
* Vestibular papillomatosis
* Vulvitis
* Vulvodynia
Clitoral hood or clitoris
* Persistent genital arousal disorder
* v
* t
* e
Female congenital anomalies of the genitalia, including Intersex and DSD
Internal
Uterine malformation
* Müllerian agenesis
* Cervical agenesis
* Unicornuate uterus
* Uterus didelphys
* Bicornuate uterus
* Uterine septum
* Arcuate uterus
Vagina
* Vaginal septum
* Vaginal hypoplasia
* Imperforate hymen
* Vaginal adenosis
* Cloacal exstrophy
* Vaginal atresia
External
* Clitoromegaly
* Progestin-induced virilization
* Pseudohermaphroditism
* True hermaphroditism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Rectovaginal fistula
|
c0034895
| 7,986 |
wikipedia
|
https://en.wikipedia.org/wiki/Rectovaginal_fistula
| 2021-01-18T19:08:52 |
{"mesh": ["D012006"], "umls": ["C0034895"], "icd-9": ["619.1"], "icd-10": ["N82.3", "Q52.2"], "wikidata": ["Q3740798"]}
|
Neonatal sepsis
SpecialtyPediatrics
Neonatal sepsis is a type of neonatal infection and specifically refers to the presence in a newborn baby of a bacterial blood stream infection (BSI) (such as meningitis, pneumonia, pyelonephritis, or gastroenteritis) in the setting of fever. Older textbooks may refer to neonatal sepsis as "sepsis neonatorum". Criteria with regards to hemodynamic compromise or respiratory failure are not useful clinically because these symptoms often do not arise in neonates until death is imminent and unpreventable. Neonatal sepsis is divided into two categories: early-onset sepsis (EOS) and late-onset sepsis (LOS). EOS refers to sepsis presenting in the first 7 days of life (although some refer to EOS as within the first 72 hours of life), with LOS referring to presentation of sepsis after 7 days (or 72 hours, depending on the system used). Neonatal sepsis is the single most common cause of neonatal death in hospital as well as community in developing country.
It is difficult to clinically exclude sepsis in newborns less than 90 days old that have fever (defined as a temperature > 38 °C (100.4 °F). Except in the case of obvious acute viral bronchiolitis, the current practice in newborns less than 30 days old is to perform a complete workup including complete blood count with differential, blood culture, urinalysis, urine culture, and cerebrospinal fluid (CSF) studies and CSF culture, admit the newborn to the hospital, and treat empirically for serious bacterial infection for at least 48 hours until cultures are demonstrated to show no growth. Attempts have been made to see whether it is possible to risk stratify newborns in order to decide if a newborn can be safely monitored at home without treatment despite having a fever. One such attempt is the Rochester criteria.
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 Research
* 7 References
* 8 External links
## Signs and symptoms[edit]
The signs of sepsis are non-specific and include:[1]
* Body temperature changes
* Breathing problems
* Diarrhea
* Low blood sugar (hypoglycemia)
* Reduced movements
* Reduced sucking
* Seizures
* Bradycardia
* Swollen belly area
* Vomiting
* Yellow skin and whites of the eyes (jaundice).
* hemorrhagic rash
A heart rate above 160 can also be an indicator of sepsis, this tachycardia can present up to 24 hours before the onset of other signs.
## Risk factors[edit]
A study performed at Strong Memorial Hospital in Rochester, New York, showed that infants ≤ 60 days old meeting the following criteria were at low-risk for having a serious bacterial illness:[2]
* generally well-appearing
* previously healthy
* full term (at ≥37 weeks gestation)
* no antibiotics perinatally
* no unexplained hyperbilirubinemia that required treatment
* no antibiotics since discharge
* no hospitalizations
* no chronic illness
* discharged at the same time or before the mother
* no evidence of skin, soft tissue, bone, joint, or ear infection
* White blood cells (WBCs) count 5,000-15,000/mm3
* absolute band count ≤ 1,500/mm3
* urine WBC count ≤ 10 per high power field (hpf)
* stool WBC count ≤ 5 per high power field (hpf) only in infants with diarrhea
Those meeting these criteria likely do not require a lumbar puncture, and are felt to be safe for discharge home without antibiotic treatment, or with a single dose of intramuscular antibiotics, but will still require close outpatient follow-up.
One risk for Group B streptococcal infection (GBS) is preterm rupture of membranes. Screening women for GBS (via vaginal and rectal swabbing) and treating culture positive women with intrapartum chemoprophylaxis is reducing the number of neonatal sepsis caused by GBS.
Abnormal heart rate characteristics (HRC) of transient decelerations and reduced baseline variability in heart rate are a risk factor for impending neonatal sepsis.[3][4][5][6][7][8][9][10][11][12][excessive citations]
## Diagnosis[edit]
Neonatal sepsis screening:[citation needed]
1. DLC (differential leukocyte count) showing increased numbers of polymorphs.
2. DLC: band cells > 20%.
3. increased haptoglobins.
4. micro ESR (erythrocyte sedimentation rate) titer > 15mm.[13]
5. gastric aspirate showing > 5 polymorphs per high power field.
6. newborn CSF (cerebrospinal fluid) screen: showing increased cells and proteins.
7. suggestive history of chorioamnionitis, PROM (premature rupture of membranes), etc...
Culturing for microorganisms from a sample of CSF, blood or urine, is the gold standard test for definitive diagnosis of neonatal sepsis. This can give false negatives due to the low sensitivity of culture methods and because of concomitant antibiotic therapy. Lumbar punctures should be done when possible as 10-15% presenting with sepsis also have meningitis, which warrants an antibiotic with a high CSF penetration.[citation needed]
CRP is not very accurate in picking up cases.[14]
## Treatment[edit]
Note that, in neonates, sepsis is difficult to diagnose clinically. They may be relatively asymptomatic until hemodynamic and respiratory collapse is imminent, so, if there is even a remote suspicion of sepsis, they are frequently treated with antibiotics empirically until cultures are sufficiently proven to be negative. In addition to fluid resuscitation and supportive care, a common antibiotic regimen in infants with suspected sepsis is a beta-lactam antibiotic (usually ampicillin) in combination with an aminoglycoside (usually gentamicin) or a third-generation cephalosporin (usually cefotaxime—ceftriaxone is generally avoided in neonates due to the theoretical risk of kernicterus.) The organisms which are targeted are species that predominate in the female genitourinary tract and to which neonates are especially vulnerable to, specifically Group B Streptococcus, Escherichia coli, and Listeria monocytogenes (This is the main rationale for using ampicillin versus other beta-lactams.) Of course, neonates are also vulnerable to other common pathogens that can cause meningitis and bacteremia such as Streptococcus pneumoniae and Neisseria meningitidis. Although uncommon, if anaerobic species are suspected (such as in cases where necrotizing enterocolitis or intestinal perforation is a concern, clindamycin is often added.[citation needed]
Granulocyte-macrophage colony stimulating factor (GM-CSF) is sometimes used in neonatal sepsis. However, a 2009 study found that GM-CSF corrects neutropenia if present but it has no effect on reducing sepsis or improving survival.[15]
## Epidemiology[edit]
Since the 1990s early-onset sepsis has declined because of screening of group B streptococcus. The cause of early-onset neonatal sepsis are pathogens that contaminate the placenta, vaginal canal, cervix, or amniotic fluid, and these pathogens can affect the baby either in the womb or during labor.[16] Early-onset neonatal sepsis is found to be 0.77 to 1 per 100,000 live births in the U.S. In premature babies, the incidence and mortality rates are higher due to the weakness of their immune system. For infants with low birth weight, cases of early-onset sepsis is found to be about 26 per 1,000 and 8 per 1,000 live births. Certain populations of babies are at more risk as well. Mothers who have poor healthcare, low socioeconomic status, substance abuse, or are African American have higher rates of neonatal sepsis. In fact, African American preterm babies have the highest rate of infection and mortality. 5.14 of every 1,000 live births and 24.4% case fatality ratio, respectively.[17] The mother is not the only one who can contract the bacteria that contributes to sepsis. The child can contribute to the onset of sepsis through multiple factors. Mothers contribute to the risk through a variety of ways like diets during pregnancy and potential intake of foods that are contaminated, through invasive procedures like amniocentesis and cervical cerclage, or contamination of bacteria in the vaginal canal. Infants can contribute to early-onset sepsis through prematurity, congenital anomalies, complicated birth or instrument assisted birth, and low APGAR scores.[17] Testing for neonatal sepsis is done because of how little it physically presents itself in babies. Infants showing no signs of neonatal sepsis will have a sepsis workup done only if concerning factors are shown. Only a small percentage of infants will have a sepsis workup done. Of this small population only 3% to 8% will show positive cultures.[16]
## Research[edit]
Trials of probiotics for prevention of neonatal sepsis have generally been too small and statistically underpowered to detect any benefit,[18] but a randomized controlled trial that enrolled 4,556 neonates in India reported that probiotics significantly reduced the risk of developing sepsis.[19] The probiotic used in the trial was Lactobacillus plantarum.
A very large meta-analysis investigated the effect of probiotics on preventing late-onset sepsis (LOS) in neonates.[20] Probiotics were found to reduce the risk of LOS, but only in babies who were fed human milk exclusively.[20] It is difficult to distinguish if the prevention was a result of the probiotic supplementation or if it was a result of the properties of human milk.[20] It is also still unclear if probiotic administration reduces LOS risk in extremely low birth weight infants due to the limited number of studies that investigated it.[20] Out of the 37 studies included in this systematic review, none indicated any safety problems related to the probiotics.[20] It would be beneficial to clarify the relationship between probiotic supplementation and human milk for future studies in order to prevent late onset sepsis in neonates.[20]
In a randomized controlled trial of 3,003 very low birth weight (VLBW) infants, Heart Rate Characteristics (HRC) monitoring reduced all-cause mortality by 22%,[21] mortality after infection by 40%,[22] reduced length of stay in the NICU after controlling for improved survival,[23] and reduced mortality as well as mortality-or-severe-cerebral-palsy at 18–22 months corrected age among the extremely low birth weight (ELBW) patients.[24]
## References[edit]
1. ^ pmhdev. "Updating PubMed Health". PubMed Health.
2. ^ Dagan R, Powell KR, Hall CB, Menegus MA (Dec 1985). "Identification of infants unlikely to have serious bacterial infection although hospitalized for suspected sepsis". J. Pediatr. 107 (6): 855–60. doi:10.1016/S0022-3476(85)80175-X. PMID 4067741.
3. ^ Griffin, M. P.; Moorman, J. R. (January 2001). "Toward the early diagnosis of neonatal sepsis and sepsis-like illness using novel heart rate analysis". Pediatrics. 107 (1): 97–104. doi:10.1542/peds.107.1.97. ISSN 1098-4275. PMID 11134441.
4. ^ Kovatchev, Boris P.; Farhy, Leon S.; Cao, Hanqing; Griffin, M. Pamela; Lake, Douglas E.; Moorman, J. Randall (December 2003). "Sample asymmetry analysis of heart rate characteristics with application to neonatal sepsis and systemic inflammatory response syndrome". Pediatric Research. 54 (6): 892–898. doi:10.1203/01.PDR.0000088074.97781.4F. ISSN 0031-3998. PMID 12930915. S2CID 1778610.
5. ^ Griffin, M. Pamela; O'Shea, T. Michael; Bissonette, Eric A.; Harrell, Frank E.; Lake, Douglas E.; Moorman, J. Randall (June 2003). "Abnormal heart rate characteristics preceding neonatal sepsis and sepsis-like illness". Pediatric Research. 53 (6): 920–926. doi:10.1203/01.PDR.0000064904.05313.D2. ISSN 0031-3998. PMID 12646726. S2CID 27932952.
6. ^ Griffin, M. Pamela; Lake, Douglas E.; Moorman, J. Randall (April 2005). "Heart rate characteristics and laboratory tests in neonatal sepsis". Pediatrics. 115 (4): 937–941. doi:10.1542/peds.2004-1393. ISSN 1098-4275. PMID 15805367. S2CID 28800177.
7. ^ Moorman, J. Randall; Lake, Douglas E.; Griffin, M. Pamela (January 2006). "Heart rate characteristics monitoring for neonatal sepsis". IEEE Transactions on Bio-medical Engineering. 53 (1): 126–132. doi:10.1109/TBME.2005.859810. ISSN 0018-9294. PMID 16402612. S2CID 3158643.
8. ^ Griffin, M. Pamela; Lake, Douglas E.; O'Shea, T. Michael; Moorman, J. Randall (February 2007). "Heart rate characteristics and clinical signs in neonatal sepsis". Pediatric Research. 61 (2): 222–227. doi:10.1203/01.pdr.0000252438.65759.af. ISSN 0031-3998. PMID 17237726. S2CID 8241108.
9. ^ Moorman, J. Randall; Delos, John B.; Flower, Abigail A.; Cao, Hanqing; Kovatchev, Boris P.; Richman, Joshua S.; Lake, Douglas E. (November 2011). "Cardiovascular oscillations at the bedside: early diagnosis of neonatal sepsis using heart rate characteristics monitoring". Physiological Measurement. 32 (11): 1821–1832. Bibcode:2011PhyM...32.1821M. doi:10.1088/0967-3334/32/11/S08. ISSN 1361-6579. PMC 4898648. PMID 22026974.
10. ^ Fairchild, Karen D. (April 2013). "Predictive monitoring for early detection of sepsis in neonatal ICU patients". Current Opinion in Pediatrics. 25 (2): 172–179. doi:10.1097/mop.0b013e32835e8fe6. ISSN 1040-8703. PMID 23407184.
11. ^ Lake, Douglas E.; Fairchild, Karen D.; Moorman, J. Randall (2013-11-19). "Complex signals bioinformatics: evaluation of heart rate characteristics monitoring as a novel risk marker for neonatal sepsis". Journal of Clinical Monitoring and Computing. 28 (4): 329–339. doi:10.1007/s10877-013-9530-x. ISSN 1387-1307. PMC 4026344. PMID 24248424.
12. ^ Hicks, Jamie H.; Fairchild, Karen D. (December 2013). "Heart Rate Characteristics in the NICU". Advances in Neonatal Care. 13 (6): 396–401. doi:10.1097/anc.0000000000000031. ISSN 1536-0903. PMID 24300957.
13. ^ Gupte, Suraj (2016). The Short Textbook of Pediatrics. JP Medical Ltd. p. 306. ISBN 9789385891809.
14. ^ Delanghe, JR; Speeckaert, MM (4 February 2015). "Translational research and biomarkers in neonatal sepsis". Clinica Chimica Acta. 451 (Pt A): 46–64. doi:10.1016/j.cca.2015.01.031. PMID 25661089.
15. ^ Carr R, Brocklehurst P, Doré CJ, Modi N (January 2009). "Granulocyte-macrophage colony stimulating factor administered as prophylaxis for reduction of sepsis in extremely preterm, small for gestational age neonates (the PROGRAMS trial): a single-blind, multicentre, randomised controlled trial". Lancet. 373 (9659): 226–33. doi:10.1016/S0140-6736(09)60071-4. PMID 19150703. S2CID 34187043.
16. ^ a b Singh, Meenakshi; Gray, Cory P. (2020), "Neonatal Sepsis", StatPearls, StatPearls Publishing, PMID 30285373, retrieved 2019-11-17
17. ^ a b Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.; Davies, H. Dele (2014-01-01). "Early-Onset Neonatal Sepsis". Clinical Microbiology Reviews. 27 (1): 21–47. doi:10.1128/CMR.00031-13. ISSN 0893-8512. PMC 3910904. PMID 24396135.
18. ^ "Probiotics come with bold health claims, but science is shaky". STAT. 21 January 2016. Retrieved 17 August 2017.
19. ^ "At Last, a Big, Successful Trial of Probiotics - The Atlantic". www.theatlantic.com. Retrieved 17 August 2017.
20. ^ a b c d e f Aceti A, Maggio L, Beghetti I, Gori D, Barone G, Callegari ML, Fantini MP, Indrio F, Meneghin F, Morelli L, Zuccotti G, Corvaglia L (August 2017). "Probiotics Prevent Late-Onset Sepsis in Human Milk-Fed, Very Low Birth Weight Preterm Infants: Systematic Review and Meta-Analysis". Nutrients. 9 (8): 904. doi:10.3390/nu9080904. PMC 5579697. PMID 28829405.
21. ^ Moorman, Joseph Randall; Carlo, Waldemar A.; Kattwinkel, John; Schelonka, Robert L.; Porcelli, Peter J.; Navarrete, Christina T.; Bancalari, Eduardo; Aschner, Judy L.; Whit Walker, Marshall; Perez, Jose A.; Palmer, Charles (December 2011). "Mortality Reduction by Heart Rate Characteristic Monitoring in Very Low Birth Weight Neonates: A Randomized Trial". The Journal of Pediatrics. 159 (6): 900–906.e1. doi:10.1016/j.jpeds.2011.06.044. ISSN 0022-3476. PMC 3215822. PMID 21864846.
22. ^ Fairchild, Karen D.; Schelonka, Robert L.; Kaufman, David A.; Carlo, Waldemar A.; Kattwinkel, John; Porcelli, Peter J.; Navarrete, Cristina T.; Bancalari, Eduardo; Aschner, Judy L.; Walker, M. Whit; Perez, Jose A. (2013-08-13). "Septicemia mortality reduction in neonates in a heart rate characteristics monitoring trial". Pediatric Research. 74 (5): 570–575. doi:10.1038/pr.2013.136. ISSN 0031-3998. PMC 4026205. PMID 23942558.
23. ^ Swanson, Jonathan R.; King, William E.; Sinkin, Robert A.; Lake, Douglas E.; Carlo, Waldemar A.; Schelonka, Robert L.; Porcelli, Peter J.; Navarrete, Christina T.; Bancalari, Eduardo; Aschner, Judy L.; Perez, Jose A. (July 2018). "Neonatal Intensive Care Unit Length of Stay Reduction by Heart Rate Characteristics Monitoring". The Journal of Pediatrics. 198: 162–167. doi:10.1016/j.jpeds.2018.02.045. ISSN 0022-3476. PMID 29703576. S2CID 13829669.
24. ^ Schelonka, Robert L.; Carlo, Waldemar A.; Bauer, Charles R.; Peralta-Carcelen, Myriam; Phillips, Vivien; Helderman, Jennifer; Navarrete, Christina T.; Moorman, J. Randall; Lake, Douglas E.; Kattwinkel, John; Fairchild, Karen D. (April 2020). "Mortality and Neurodevelopmental Outcomes in the Heart Rate Characteristics Monitoring Randomized Controlled Trial". The Journal of Pediatrics. 219: 48–53. doi:10.1016/j.jpeds.2019.12.066. ISSN 0022-3476. PMC 7096280. PMID 32033793.
## External links[edit]
Classification
D
* ICD-10: P36
* ICD-9-CM: 771.81
* MeSH: D000071074
External resources
* MedlinePlus: 007303
* eMedicine: article/978352
* 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
* t
* e
Vertically transmitted infections
Gestational
* Viruses
* Congenital rubella syndrome
* Congenital cytomegalovirus infection
* Neonatal herpes simplex
* Hepatitis B
* Congenital varicella syndrome
* HIV
* Fifth disease
* Bacteria
* Congenital syphilis
* Other
* Toxoplasmosis
* transplacental
* TORCH complex
During birth
* transcervical
* Candidiasis
* Gonorrhea
* Listeriosis
Late pregnancy
* Listeriosis
* Congenital cytomegalovirus infection
By breastfeeding
* Breastfeeding
* Tuberculosis
* HIV
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Neonatal sepsis
|
c0456103
| 7,987 |
wikipedia
|
https://en.wikipedia.org/wiki/Neonatal_sepsis
| 2021-01-18T18:43:31 |
{"mesh": ["D000071074"], "umls": ["C0456103"], "icd-9": ["771.81"], "icd-10": ["P36"], "wikidata": ["Q6993495"]}
|
A number sign (#) is used with this entry because of evidence that spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is caused by homozygous or compound heterozygous mutation in the SLC1A4 gene (600229) on chromosome 2p14.
Description
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).
Clinical Features
Srour et al. (2015) reported 2 sibs, born of consanguineous Ashkenazi Jewish parents, with a severe neurodevelopmental disorder characterized by delayed psychomotor development with lack of speech and inability to walk, postnatal progressive microcephaly, and spasticity that was worse in the lower limbs. One sib had febrile seizures in infancy. Brain imaging of both children showed thin corpus callosum, delayed myelination, and nonspecific white matter abnormalities. The patients did not have dysmorphic features. Srour et al. (2015) noted the phenotypic similarities to patients with L-serine biosynthesis disorders (see, e.g., PSPHD, 614023).
Heimer et al. (2015) reported 2 unrelated children with significant global developmental delay, severe progressive microcephaly (up to -4 SD), seizures, spasticity, and thin corpus callosum. A 4.5-year-old girl of Ashkenazi Jewish descent showed delayed development from early infancy and had onset of tonic and myoclonic seizures at age 11 months. She was unable to walk and had no eye contact or speech. In addition to thin corpus callosum, brain imaging showed delayed myelination and cerebral atrophy. A 6-year-old girl, born of Ashkenazi-Iraqi parents, had global developmental delay since infancy and onset of febrile seizures at age 1 year. She was able to walk with assistance, had eye contact, and could babble. Both patients showed hyperreflexia, extensor plantar responses, irritability, hyperactivity, sleep disorder, and stereotypic behavior.
Damseh et al. (2015) reported 10 children from 8 families of Ashkenazi Jewish descent with SPATCCM. In infancy, the patients had hypotonia and global developmental delay. They later showed progressive microcephaly, spasticity, and absent or very poor language. Five patients developed seizures ranging from simple febrile to intractable epilepsy with hypsarrhythmia. Brain imaging was variable, but showed thin corpus callosum, decreased myelination, and/or cerebral atrophy in most patients. Another patient, born of consanguineous Palestinian parents, was also described; she had an even more severe phenotype, with hip dysplasia and poor visual responses with reduced electroretinogram.
Inheritance
The transmission pattern of spastic tetraplegia, thin corpus callosum, and progressive microcephaly in the families reported by Srour et al. (2015) and Damseh et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of consanguineous Ashkenazi Jewish parents, with SPATCCM, Srour et al. (2015) identified a homozygous missense mutation in the SLC1A4 gene (E256K; 600229.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Srour et al. (2015) proposed that disruption of SLC1A4 impairs brain development and function by decreasing the availability of L-serine in neurons.
Heimer et al. (2015) identified a homozygous E256K mutation in the SLC1A4 gene in a 4.5-year-old girl of Ashkenazi Jewish descent with SPATCCM. An unrelated girl of Ashkenazi-Iraqi descent with the disorder was compound heterozygous for E256K and a truncating mutation (600229.0002). Functional studies of the variants were not performed.
Damseh et al. (2015) identified a homozygous E256K mutation in 9 patients from 7 unrelated families of Ashkenazi Jewish descent with SPATCCM. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all families. Haplotype analysis indicated that the E256K mutation was a founder mutation in the Ashkenazi Jewish population. In vitro functional expression studies in HEK cells showed that L-serine and L-alanine transport by the E256K variant was reduced by 25% and 20%, respectively, compared to wildtype. Another patient, born of an Ashkenazi Jewish father and an Iraqi-Jewish mother, was compound heterozygous for the E256K mutation and a frameshift mutation (600229.0002). A different homozygous missense mutation in the SLC1A4 gene (R457W; 600229.0003) was found in a girl, born of consanguineous Palestinian parents, with SPATCCM. In vitro functional expression studies in HEK cells showed no measurable substrate transport activity for the R457W variant.
Population Genetics
The carrier frequency of the SLC1A4 founder mutation E256K among Ashkenazi Jewish controls has been estimated to be 0.0056 (Srour et al., 2015) and 0.007 (Damseh et al., 2015).
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, postnatal, progressive (up to -4SD) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development, severe \- Intellectual disability \- Inability to walk \- Poor or absent speech \- Seizures (in some patients) \- Spastic tetraplegia \- Hyperreflexia \- Extensor plantar responses \- Sleep disorder \- Thin corpus callosum \- Myelination defects \- White matter abnormalities, nonspecific \- Cerebral atrophy Behavioral Psychiatric Manifestations \- Hyperactivity \- Stereotypical behaviors \- Irritability MISCELLANEOUS \- Onset at birth \- Increased frequency among individuals of Ashkenazi Jewish descent MOLECULAR BASIS \- Caused by mutation in the solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 gene (SLC1A4, 600229.0001 ) ▲ 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
|
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
|
c4225254
| 7,988 |
omim
|
https://www.omim.org/entry/616657
| 2019-09-22T15:48:20 |
{"omim": ["616657"], "orphanet": ["447997"], "synonyms": ["ASCT1 deficiency", "Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"]}
|
Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Male infertility with azoospermia or oligozoospermia due to single gene mutation
|
c1862459
| 7,989 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399805
| 2021-01-23T18:22:27 |
{"gard": ["8530"], "omim": ["108420", "258150", "270960", "305700", "309120", "613957", "615081", "615413", "615841", "615842", "616950", "617706", "617707", "617960", "618086", "618110", "618115"], "icd-10": ["N46"]}
|
neurological phenomenon
This article is about the psychological phenomenon. For the album, see Sundowning (album). For other uses, see Sundowning (disambiguation).
Sundowning, or sundown syndrome,[1] is a neurological phenomenon associated with increased confusion and restlessness in patients with delirium or some form of dementia. Most commonly associated with Alzheimer's disease, but also found in those with other forms of dementia, the term "sundowning" was coined due to the timing of the patient's confusion. For patients with sundowning syndrome, a multitude of behavioral problems begin to occur in the evening or while the sun is setting.[2][3][4] Sundowning seems to occur more frequently during the middle stages of Alzheimer's disease and mixed dementia. Patients are generally able to understand that this behavioral pattern is abnormal. Sundowning seems to subside with the progression of a patient's dementia.[2][3] Research shows that 20–45% of Alzheimer's patients will experience some sort of sundowning confusion.[2][5]
## Contents
* 1 Symptoms
* 2 Causes
* 2.1 Disturbances in circadian rhythms
* 3 Treatment
* 4 References
## Symptoms[edit]
Symptoms are not limited to but may include:
* Increased general confusion as natural light begins to fade and increased shadows appear.[2][6]
* Agitation and mood swings. Individuals may become fairly frustrated with their own confusion as well as aggravated by noise. Individuals found yelling and becoming increasingly upset with their caregiver is not uncommon.[2][3]
* Mental and physical fatigue increase with the setting of the sun. This fatigue can play a role in the individual's irritability.[2][3]
* Tremors may increase and become uncontrollable.[citation needed]
* An individual may experience an increase in their restlessness while trying to sleep. Restlessness can often lead to pacing and or wandering which can be potentially harmful for an individual in a confused state.[3]
## Causes[edit]
While the specific causes of sundowning have not been empirically proven, some evidence suggests that circadian rhythm disruption increases sundowning behaviors. In humans, sunset triggers a biochemical cascade that involves a reduction of dopamine levels and a shift towards melatonin production as the body prepares for sleep. In individuals with dementia, melatonin production may be decreased,[7] which may interrupt other neurotransmitter systems.
Sundowning should be distinguished from delirium, and should be presumed to be delirium when it appears as a new behavioral pattern until a causal link between sunset and behavioral disturbance is established. Patients with established sundowning and no obvious medical illness may be suffering from impaired circadian regulation, or may be affected by nocturnal aspects of their institutional environment such as shift changes, increased noise, or reduced staffing (which leads to fewer opportunities for social interaction).
### Disturbances in circadian rhythms[edit]
It is thought that with the development of plaques and tangles associated with Alzheimer's disease there might be a disruption within the suprachiasmatic nucleus (SCN).[4] The SCN is associated with regulating sleep patterns by maintaining circadian rhythms, which are strongly associated with external light and dark cues. A disruption within the suprachiasmatic nucleus would seem to be an area that could cause the types of confusion that are seen in sundowning. However, finding evidence for this is difficult, as an autopsy is needed to analyse this disruption properly. By the time an Alzheimer's patient has died, they have usually surpassed the level of brain damage (and associated dementia) that would be associated with sundowning. This hypothesis is, however, supported by the effectiveness of melatonin, a natural hormone, to decrease behavioral symptoms associated with sundowning.
Another cause can be oral problems, like tooth decay with pain. When the time a meal is served comes close, a patient can show symptoms of sundowning. This cause is not widely recognized,[8] however anticipation of food can increase dopamine levels, and dopamine and melatonin have an antagonistic relationship.
## Treatment[edit]
* If possible, a consistent sleeping schedule and daily routine that a sufferer is comfortable with can reduce confusion and agitation.[2]
* If the patient's condition permits, having increased daily activity incorporated into their schedule can help promote an earlier bed time and need for sleep.[2][3]
* Check for over-napping. Patients may wish to take naps during the day, but unintentionally getting too much sleep will affect nighttime sleep. Physical activity is a treatment for Alzheimer's, and a way to encourage night sleep.[3]
* Caffeine is a (fast-working) brain stimulant, but should be limited at night if a night's sleep is needed.[2][3]
* Caregivers could try letting patients choose their own sleeping arrangements each night, wherever they feel most comfortable sleeping, as well as allow for a dim light to occupy room to alleviate confusion associated with an unfamiliar place.[3]
* Some evidence supports the use of melatonin to induce sleep.[4]
## References[edit]
1. ^ Khachiyants N, Trinkle D, Son SJ, Kim KY (2011). "Sundown syndrome in persons with dementia: an update". Psychiatry Investig. 8: 275–87. doi:10.4306/pi.2011.8.4.275. PMC 3246134. PMID 22216036.
2. ^ a b c d e f g h i Smith, G. (April 28, 2011). "Sundowning: Late-day confusion". mayoclinic.com. Mayo Clinic. Retrieved August 30, 2016.
3. ^ a b c d e f g h i "Sleeplessness and Sundowning". Alzheimer's Association.
4. ^ a b c de Jonghe A; Korevaar J. C; Munster B. C Van (2010). "Effectiveness of melatonin treatment on circadian rhythm disturbances in dementia. Are there implications for delirium? A systematic review". International Journal of Geriatric Psychiatry. 25 (12): 1201–08. doi:10.1002/gps.2454.
5. ^ "Il demente e la sindrome del tramonto" [The demented and the sunset syndrome]. anzianievita.it (in Italian). April 2, 2014.
6. ^ Keller, S. "Sundowning." WebMD. WebMD LLC, 2012. Web. 14 May 2012. http://www.webmd.com/alzheimers/guide/sundowning-causes-symptoms-treatments
7. ^ Khachiyants N, Trinkle D, Son SJ, Kim KY (2011). "Sundown syndrome in persons with dementia: an update". Psychiatry Investigation. 8 (4): 275–87. doi:10.4306/pi.2011.8.4.275. PMC 3246134. PMID 22216036.
8. ^ Erik Scherder. "Waarom vernietigt vanillevla onze hersenen? - Universiteit van Nederland" [Why does vanilla custard destroy our brains?]. www.universiteitvannederland.nl.
* v
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* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
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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
|
Sundowning
|
c1142436
| 7,990 |
wikipedia
|
https://en.wikipedia.org/wiki/Sundowning
| 2021-01-18T18:28:21 |
{"umls": ["C1142436"], "wikidata": ["Q3916681"]}
|
Frontotemporal dementia and parkinsonism linked to chromosome 17
This condition is inherited in an autosomal dominant manner.
SpecialtyNeurology
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative tauopathy and Parkinson plus syndrome.[1] FTDP-17 is caused by mutations in the MAPT (microtubule associated protein tau) gene located on the q arm of chromosome 17, and has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996.
## Contents
* 1 Pathophysiology
* 2 Diagnosis
* 3 Management
* 4 Prognosis
* 5 Epidemiology
* 6 References
* 7 Further reading
* 8 External links
## Pathophysiology[edit]
The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly.
## Diagnosis[edit]
Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete.
## Management[edit]
Currently, treatment for FTDP-17 is only symptomatic and supportive.
## Prognosis[edit]
The prognosis and rate of the diseases progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades.
## Epidemiology[edit]
The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the MAPT gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations.
## References[edit]
1. ^ Mitra K, Gangopadhaya PK, Das SK. (Jun 2003). "Parkinsonism plus syndrome--a review". Neurology India. 51 (2): 183–8. PMID 14570999.CS1 maint: uses authors parameter (link)
## Further reading[edit]
* Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba and William P Cheshire Orphanet Journal of Rare Diseases 2006, 1:30 doi:10.1186/1750-1172-1-30
* Luc Buée; André Delacourte (1999). "Comparative Biochemistry of Tau in Progressive Supranuclear Palsy, Corticobasal Degeneration, FTDP-17 and Pick's Disease" (PDF). Brain Pathology. 9 (4): 681–693. doi:10.1111/j.1750-3639.1999.tb00550.x. PMID 10517507.[permanent dead link]
## External links[edit]
Classification
D
* OMIM: 600274
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Frontotemporal dementia and parkinsonism linked to chromosome 17
|
None
| 7,991 |
wikipedia
|
https://en.wikipedia.org/wiki/Frontotemporal_dementia_and_parkinsonism_linked_to_chromosome_17
| 2021-01-18T18:44:36 |
{"icd-9": ["331.19"], "wikidata": ["Q15043641"]}
|
Centrilobular necrosis refers to the necrosis of the centrilobular tissue of the hepatic lobule.[1] The centrilobular zone of the lobule is most prone to metabolic toxins such as those generated in alcoholic hepatitis. In acetaminophen overdose, glutathione depletion occurs and the highly reactive NAPQI will bind to the liver cells causing centrilobular necrosis.
## References[edit]
1. ^ Haschek, Wanda (23 November 2009). Fundamentals of Toxicologic Pathology. Academic Press. p. 208.
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
|
Centrilobular necrosis
|
c0267804
| 7,992 |
wikipedia
|
https://en.wikipedia.org/wiki/Centrilobular_necrosis
| 2021-01-18T18:53:20 |
{"umls": ["C0267804"], "wikidata": ["Q19720556"]}
|
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
|
c4225312
| 7,993 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329336
| 2021-01-23T18:16:46 |
{"omim": ["616479"], "icd-10": ["G71.3"], "synonyms": ["Adult-onset CPEO with mitochondrial myopathy"]}
|
Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria. The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Aquagenic urticaria
|
c0263334
| 7,994 |
gard
|
https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria
| 2021-01-18T18:02:04 |
{"mesh": ["C562481"], "synonyms": []}
|
See 300221 and Horwitz and Wiernik (1999) for discussion of a putative locus for Hodgkin disease in the pseudoautosomal region.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL
|
c1839076
| 7,995 |
omim
|
https://www.omim.org/entry/400021
| 2019-09-22T16:17:01 |
{"doid": ["8567"], "mesh": ["C564034"], "omim": ["400021", "236000"], "orphanet": ["391"], "synonyms": ["Classic Hodgkin disease", "Alternative titles", "HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL"]}
|
Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually enters the skin through a minor injury such as a splinter. It is most common in areas with tropical and subtropical climates. Treatment of chromoblastomycosis may include medications like itraconazole and flucytosine, cryotherapy, or surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
|
Chromoblastomycosis
|
c0008582
| 7,996 |
gard
|
https://rarediseases.info.nih.gov/diseases/1319/chromoblastomycosis
| 2021-01-18T18:01:26 |
{"mesh": ["D002862"], "umls": ["C0008582"], "orphanet": ["182"], "synonyms": ["Chromomycosis"]}
|
For other uses, see Rumination (disambiguation).
Rumination appears closely related to worry.
Rumination is the focused attention on the symptoms of one's distress, and on its possible causes and consequences, as opposed to its solutions, according to the Response Styles Theory proposed by Nolen-Hoeksema (1998).[1][2]
Because the Response Styles Theory has been empirically supported, this model of rumination is the most widely used conceptualization. Other theories, however, have proposed different definitions for rumination. For example, in the Goal Progress Theory, rumination is conceptualized not as a reaction to a mood state, but as a "response to failure to progress satisfactorily towards a goal".[3] As such, both rumination and worry are associated with anxiety and other negative emotional states; however, its measures have not been unified.[4]
## Contents
* 1 Theories
* 1.1 Response styles theory
* 1.2 Goal progress theory
* 2 Pathology
* 3 Types and content of thoughts
* 4 Measurement
* 5 Sex differences
* 6 Healthy self-disclosure
* 7 Relationship to other related constructs
* 7.1 Worry
* 7.2 Negative automatic thoughts
* 8 See also
* 9 Footnotes
* 9.1 References
## Theories[edit]
### Response styles theory[edit]
Response styles theory (RST) initially defined rumination as passively and repetitively focusing on one's symptoms of depression and the possible causes and consequences of these symptoms.[5] As evidence for this definition, rumination has been implicated in the development, maintenance, and aggravation of both depressive symptoms[6][7] as well as episodes of major depression.[8] Recently, RST has expanded the definition of rumination beyond depression to include passive and repetitive focus on the causes, consequences, and symptoms of one's distress in general. This change was made because rumination has been implicated in a host of disorders, not just depression.[4][1]
RST also contends that positive distraction is the healthy alternative to rumination, where focus is directed to positive stimuli instead of to distress.[9] However, the literature suggests that positive distraction may not be as potent a tool as once thought.[4][1]
Specifically, the S-REF model defines rumination as "repetitive thoughts generated by attempts to cope with self-discrepancy that are directed primarily toward processing the content of self-referent information and not toward immediate goal-directed action."[10] Put more simply, when a person ruminates, he or she aims to answer questions such as:
* How do I feel about this event?
* How can I change my thoughts and feelings about the event?
* How can I prevent disturbing thoughts and feelings in the future?
However, in answering these questions, ruminators tend to focus on their emotions (i.e., "self-referent information") as opposed to problem solving (i.e., "goal-directed action").[10]
Metacognition is also an important part of the S-REF model and helps to explain the link between rumination and depression.[5] Specifically, those who hold positive metacognitive beliefs about the benefits of rumination (e.g., "I need to ruminate about the bad things that have happened in the past to make sense of them")[11] are probably motivated to engage perseveratively in rumination.[12] Once engagement in rumination has occurred, individuals' negative metacognitive beliefs about rumination are likely to be activated, seeing it as unpleasant (e.g., "Ruminating makes me physically ill"), uncontrollable (e.g., "Ruminating means I'm out of control"), and socially damaging.[12][13] These negative metacognitive beliefs then contribute to the development and maintenance of depression.[12]
### Goal progress theory[edit]
Goal progress theory (GPT) seeks to explain rumination as a function of goal progress. Specifically, GPT views rumination as an example of the Zeigarnik Effect, which suggests that individuals are more likely to remember information from unfinished tasks than from finished tasks.[3][4] From this understanding, GPT defines rumination as "the tendency to think recurrently about important, higher order goals that have not yet been attained" or towards which sufficient progress has not been made.[4][14]
GPT predicts that individuals for whom goal-related information is highly accessible should be more likely to ruminate. Various studies have provided support for this prediction.[3]
## Pathology[edit]
Extensive research on the effects of rumination, or the tendency to self-reflect, shows that the negative form of rumination (associated with dysphoria) interferes with people's ability to focus on problem-solving and results in dwelling on negative thoughts about past failures.[15] Evidence from studies suggests that the negative implications of rumination are due to cognitive biases, such as memory and attentional biases, which predispose ruminators to selectively devote attention to negative stimuli.[16]
The tendency to negatively ruminate is a stable constant over time and serves as a significant risk factor for clinical depression. Not only are habitual ruminators more likely to become depressed, but experimental studies have demonstrated that people who are induced to ruminate experience greater depressed mood.[6] There is also evidence that rumination is linked to general anxiety, post traumatic stress, binge drinking, eating disorders, and self-injurious behavior.[1]
Rumination was originally believed to predict the duration of depressive symptoms. In other words, ruminating about problems was presumed to be a form of memory rehearsal which was believed to actually lengthen the experience of depression. The evidence now suggests that although rumination contributes to depression, it is not necessarily correlated with the duration of symptoms.[1]
## Types and content of thoughts[edit]
Theories of rumination differ in their predictions regarding the content of ruminative thoughts based on their respective conceptualizations. Some models propose that rumination is focused on negative feeling states and/or the circumstances surrounding that emotion (RST, rumination on sadness, Trapnell and Campbell, stress-reactive rumination, post-event processing models). Rumination in other models focuses on discrepancies between one's current and desired status (goal progress, conceptual evaluative model of rumination). Finally, other models propose that it is the negative themes of uncontrollability and harm in metacognitions that are most important.[1] Some common thoughts that are characteristic of ruminative responses are questioning the well-being of oneself and focusing on the possible causes and consequences of one's depressive symptoms (Nolen-Hoeksema, 1991). For example, some ruminative thoughts include "why am I such a loser", "I'm in such a bad mood" or "I just don't feel like doing anything".[9]
Another difference emerged in the content of rumination concerns the time period of ruminative thinking, with several theories supposing that rumination can vacillate between past, current, and future focus, and others assuming that ruminative content is focused on the past or present. It is consistently reported that rumination, in comparison to worry, contains past-related thoughts.[17] However, a more recent study found that time orientation changes over the course of rumination, such that individuals begin with a past focus, but increase in present and future related thoughts over the course of ruminating.[18] Thus, rumination may be more complicated than previously thought, and not necessarily wholly past focused. Recent data-driven research relying on computational network modeling has proposed that rumination can be conceptualized as a network system of interacting components (“nodes”), with nodes representing these distinct features of rumination.[19]
Three forms of rumination have been proposed:[20]
* State rumination, which involves dwelling on the consequences and feelings associated with the failure. State rumination is more common in people who are pessimistic, neurotic, and who have negative attributional styles.
* Action rumination, which consists of task-oriented thought processes focused on goal-achievement and correction of mistakes.
* Task-irrelevant rumination, which utilizes events or people unassociated with the blocked goal to distract a person from the failure.[21]
## Measurement[edit]
The tendency to ruminate can be assessed with the Ruminative Responses Scale of the Response Styles Questionnaire.[9] On this measure, people are asked to indicate how often they engage in 22 ruminative thoughts or behaviors when they feel sad or blue.
## Sex differences[edit]
According to Susan Nolen-Hoeksema, women tend to ruminate when they are depressed, whereas men tend to distract themselves. This difference in response style was proposed to explain the higher rates of depression in women compared to men.[22] Researchers have confirmed the greater likelihood of rumination in women[further explanation needed], though the prediction that men are more likely to distract themselves has not been consistently supported.[23]
## Healthy self-disclosure[edit]
Although rumination is generally unhealthy and associated with depression, thinking and talking about one's feelings can be beneficial under the right conditions. According to Pennebaker, healthy self-disclosure can reduce distress and rumination when it leads to greater insight and understanding about the source of one's problems.[24] Thus, when people share their feelings with others in the context of supportive relationships, they are likely to experience growth. In contrast, when people repetitively ruminate and dwell on the same problem without making progress, they are likely to experience depression. Co-rumination is a process defined as "excessively discussing personal problems within a dyadic relationship"[25] (Rose, 2002), a construct that is relatively understudied in both its negative and positive trade-offs.
## Relationship to other related constructs[edit]
Rumination has been confounded with other similar constructs that may overlap with it. Worry and negative automatic thoughts are two of them.
### Worry[edit]
Rumination appears closely related to worry. Worry has been identified as "a chain of thoughts and images, negatively affect-laden and relatively uncontrollable; it represents an attempt to engage in mental problem solving on an issue whose outcome is uncertain, but contains the possibility of one or more negative outcomes." (Borkovec)[4][26]
Rumination has also been compared to worry, and in some models, is considered a type of worry (S-REF). Many researchers have noted the high comorbidity of generalized anxiety disorder (GAD) and depression; over 60% of clients who present with symptoms of GAD also qualify for a diagnosis of major depressive disorder. This significant concurrence has led to an increasing literature on the overlap between rumination, which is often studied in the context of depression, and worry, which is often studied in the context of GAD.
According to the Mental Health Foundation, rumination has been identified to be one of the main problems that leads to anxiety and depression. A study conducted by psychologists from the University of Liverpool, suggests that dwelling on negative events that have occurred in one’s life is the biggest predictor of depression and anxiety. [27]
Measures of rumination and worry have also demonstrated high correlations, above and beyond that of symptom measures of anxiety and depression (r=.66; Beck & Perkins, 2001). Rumination and worry overlap in their relationships to anxiety and depression, although some studies do indicate specificity of rumination to depression and worry to anxiety. Rumination has been found to predict changes in both depression and anxiety symptoms and individuals with major depression have been reported to engage in levels of worry similar to individuals with GAD. As a whole, these studies suggest that rumination and worry are related not only to each other, but also each is related to symptoms of both depression and anxiety.
Other studies have demonstrated that the content of worry and rumination are distinct; worry thoughts are often focused on problem-solving and have a future orientation, whereas ruminative thoughts concern themes of loss and are more focused on the past. Rumination, as compared to worry, has also been associated with less effort and less confidence in problem solving (Papageorgiou & Wells, 2004). It has also been suggested that rumination and worry serve different purposes, namely that rumination is associated with greater belief in the personal relevance of a situation and a larger need to understand it, whereas worry is associated with a desire to avoid worry thoughts (Watkins 2004b). Worry has also been hypothesized to contain more imagery than rumination; however, support for this has been mixed.[28][29][30]
Overall, these studies suggest that worry and rumination are related constructs that both lead to depression and anxiety. It is likely that rumination and worry, as with rumination and reflection, are related types of repetitive negative thinking that may be better captured as subtypes of some larger construct, such as avoidant coping strategies.
### Negative automatic thoughts[edit]
Rumination has been compared to negative automatic thoughts, defined as repetitive thoughts that contain themes of personal loss or failure. Nolen-Hoeksema (2004) contends that rumination (as defined in RST) is distinct from negative automatic thoughts in that while negative automatic thoughts are relatively shorthand appraisals of loss and depression in depression, rumination consists of longer chains of repetitive, recyclic, negative and self-focused thinking that may occur as a response to initial negative thoughts.[31] Nolen also suggests that rumination may, in addition to analysis of symptoms, causes, and consequences, contain negative themes like those in automatic thoughts. Similarly, Papageorgiou and Wells (2004) have provided supports to this conclusion when they found that rumination can predict depression even when negative cognitions are controlled, suggesting that these constructs do not wholly overlap and have different predictive value.[10] Despite Nolen-Hoeksema's (2004) argument that rumination and negative automatic thoughts are distinct phenomena, the Response Style Questionnaire has been criticized for its conceptual overlap with negative automatic thoughts.
## See also[edit]
* Co-rumination
* Obsessive–compulsive disorder
* Ovsiankina effect
* Perseverative cognition
## Footnotes[edit]
1. ^ a b c d e f Nolen-Hoeksema, S.; Wisco, B. E.; Lyubomirsky, S. (2008). "Rethinking Rumination" (PDF). Perspectives on Psychological Science. 3 (5): 400–424. doi:10.1111/j.1745-6924.2008.00088.x. PMID 26158958. S2CID 6415609.
2. ^ Nolan, Susan A.; Roberts, John E.; Gotlib, Ian H. (1998). "Neuroticism and ruminative response style as predictors of change in depressive symptomatology" (PDF). Cognitive Therapy and Research. 22 (5): 445–455. doi:10.1023/A:1018769531641. S2CID 15419457.
3. ^ a b c Watkins, E. R. (2008). "Constructive and unconstructive repetitive thought". Psychological Bulletin. 134 (2): 163–206. doi:10.1037/0033-2909.134.2.163. PMC 2672052. PMID 18298268.
4. ^ a b c d e f Smith, J. M.; Alloy, L. B. (2009). "A roadmap to rumination: A review of the definition, assessment, and conceptualization of this multifaceted construct". Clinical Psychology Review. 29 (2): 116–128. doi:10.1016/j.cpr.2008.10.003. PMC 2832862. PMID 19128864.
5. ^ a b Papageorgiou, Costas; Wells, Adrian (2004). "Nature, Functions, and Beliefs about Depressive Rumination". In Papageorgiou, Costas; Wells, Adrian (eds.). Depressive Rumination: Nature, Theory and Treatment. West Sussex: John Wiley & Sons. pp. 1–20. doi:10.1002/9780470713853.ch1. ISBN 9780470713853.
6. ^ a b Nolen-Hoeksema, S.; Morrow, J. (1993). "Effects of rumination and distraction on naturally occurring depressed mood". Cognition and Emotion. 7 (6): 561–570. doi:10.1080/02699939308409206.
7. ^ Nolen-Hoeksema, S.; Parker, L. E.; Larson, J. (1994). "Ruminative coping with depressed mood following loss". Journal of Personality and Social Psychology. 67 (1): 92–104. doi:10.1037/0022-3514.67.1.92. PMID 8046585.
8. ^ Nolen-Hoeksema, S (2000). "The role of rumination in depressive disorders and mixed anxiety/depressive symptoms". Journal of Abnormal Psychology. 109 (3): 504–511. doi:10.1037/0021-843x.109.3.504. PMID 11016119. S2CID 43090073.
9. ^ a b c Nolen-Hoeksema, S (1991). "Responses to depression and their effects on the duration of the depressive episode". Journal of Abnormal Psychology. 100 (4): 569–582. doi:10.1037/0021-843x.100.4.569. PMID 1757671.
10. ^ a b c Matthews, Gerald; Wells, Adrian (2004). "Rumination, Depression, and Metacognition: The S-REF Model". In Papageorgiou, Costas; Wells, Adrian (eds.). Depressive Rumination: Nature, Theory and Treatment. West Sussex: John Wiley & Sons. pp. 125–151. doi:10.1002/9780470713853.ch7. ISBN 9780470713853.
11. ^ Papageorgiou, C.; Wells, A. (2001). "Positive beliefs about depressive rumination: Development and preliminary validation of a self-report scale". Behavior Therapy. 32 (1): 13–26. doi:10.1016/s0005-7894(01)80041-1.
12. ^ a b c Papageorgiou, C.; Wells, A. (2003). "An empirical test of a clinical metacognitive model of rumination and depression". Cognitive Therapy and Research. 27 (3): 261–273. doi:10.1023/A:1023962332399. S2CID 23020041.
13. ^ Papageorgiou, C.; Wells, A. (2001). "Metacognitive beliefs about rumination in recurrent major depression". Cognitive and Behavioral Practice. 8 (2): 160–164. doi:10.1016/s1077-7229(01)80021-3.
14. ^ Martin, Leonard L.; Shrira, Ilan; Startup, Helen M. (2004). "Rumination as a Function of Goal Progress, Stop Rules, and Cerebral Lateralization". In Papageorgiou, Costas; Wells, Adrian (eds.). Depressive Rumination: Nature, Theory and Treatment. West Sussex: John Wiley & Sons. pp. 153–175. doi:10.1002/9780470713853.ch8. ISBN 9780470713853.
15. ^ Lyubomirsky, S.; Kasri, F.; Zehm, K. (2003). "Dysphoric rumination impairs concentration on academic tasks". Cognitive Therapy and Research. 27 (3): 309–330. doi:10.1023/A:1023918517378. S2CID 14204781.
16. ^ Joormann, J.; Dkane, M.; Gotlib, I. H. (2006). "Adaptive and maladaptive components of rumination? Diagnostic specificity and relation to depressive biases" (PDF). Behavior Therapy. 37 (3): 269–280. doi:10.1016/j.beth.2006.01.002. PMID 16942978. Archived from the original (PDF) on 2014-06-01.
17. ^ Watkins, E.; Moulds, M. (2005). "Distinct modes of ruminative self-focus: Impact of abstract vs. concrete rumination on problem solving in depression". Emotion. 5 (3): 319–328. doi:10.1037/1528-3542.5.3.319. PMID 16187867.
18. ^ McLaughlin, Katie A.; Borkovec, Thomas D.; Sibrava, Nicholas J. (2007). "The effects of worry and rumination on affect states and cognitive activity". Behavior Therapy. 38 (1): 23–38. doi:10.1016/j.beth.2006.03.003. PMID 17292692.
19. ^ Bernstein EE, Heeren A, McNally RJ (2019). "Reexamining trait rumination as a system of repetitive negative thoughts: A network analysis". Journal of Behavior Therapy and Experimental Psychiatry. 63: 21–27. doi:10.1016/j.jbtep.2018.12.005. PMID 30590225.
20. ^ Mikulincer, Mario (1996). "Mental rumination and learned helplessness: Cognitive shifts during helplessness training and their behavioral consequences.". In Sarason, I.; Sarason, B.; Pierce, G. (eds.). Cognitive interference: Theories, methods, and findings. Hillsdale, NJ: Lawrence Erlbaum. pp. 191–210.
21. ^ Ciarocco, Natalie J.; Vohs, Kathleen D.; Baumeister, Roy F. (2010). "Some Good News About Rumination: Task-Focused Thinking After Failure Facilitates Performance Improvement". Journal of Social and Clinical Psychology. 29 (10): 1057–1073. doi:10.1521/jscp.2010.29.10.1057. S2CID 14689415.
22. ^ Nolen-Hoeksema, S (1987). "Sex differences in unipolar depression: Evidence and theory". Psychological Bulletin. 101 (2): 259–282. doi:10.1037/0033-2909.101.2.259. PMID 3562707. S2CID 5026228.
23. ^ Strauss, J.; Muday, T.; McNall, K.; Wong, M. (1997). "Response Style Theory revisited: Gender differences and stereotypes in rumination and distraction". Sex Roles. 36 (11/12): 771–792. doi:10.1023/A:1025679223514. S2CID 142916986.
24. ^ Pennebaker, James W. (1989). "Confession, Inhibition, and Disease". Advances in Experimental Social Psychology. 22. pp. 211–244. doi:10.1016/S0065-2601(08)60309-3. ISBN 9780120152223.
25. ^ Rose, A. J. (2002). "Co-rumination in the friendships of girls and boys". Child Development. 73 (6): 1830–1843. doi:10.1111/1467-8624.00509. PMID 12487497.
26. ^ Borkovec, T.D.; Robinson, Elwood; Pruzinsky, Thomas; Depree, James A. (1983). "Preliminary exploration of worry: Some characteristics and processes". Behaviour Research and Therapy. 21 (1): 9–16. doi:10.1016/0005-7967(83)90121-3. PMID 6830571.
27. ^ Winterman, Denise. Rumination: The Danger of Dwelling. 17 Oct. 2013, www.bbc.com/news/magazine-24444431
28. ^ McLaughlin, Katie A.; Borkovec, Thomas D.; Sibrava, Nicholas J. (2007). "The effects of worry and rumination on affect states and cognitive activity". Behavior Therapy. 38 (1): 23–38. doi:10.1016/j.beth.2006.03.003. PMID 17292692.
29. ^ Papageorgiou, Costas; Wells, Adrian (1999). "Process and meta cognitive dimensions of depressive and anxious thoughts and relationships with emotional intensity". Clinical Psychology and Psychotherapy. 5 (2): 152. doi:10.1002/(sici)1099-0879(199905)6:2<156::aid-cpp196>3.0.co;2-a.
30. ^ Watkins, Ed; Moulds, Michelle; MacKintosh, Bundy (2005). "Comparisons between rumination and worry in a non-clinical population". Behaviour Research and Therapy. 43 (12): 1577–1585. doi:10.1016/j.brat.2004.11.008. PMID 16239152.
31. ^ Nolen-Hoeksema, Susan (2004). "The Response Styles Theory". In Papageorgiou, Costas; Wells, Adrian (eds.). Depressive Rumination: Nature, Theory and Treatment. West Sussex: John Wiley & Sons. pp. 105–123. doi:10.1002/9780470713853.ch6. ISBN 9780470713853.
### References[edit]
* Pedersen, C. W.; Denson, T. F.; Goss, R.; Vasquez, E. A.; Kelley, N. J.; Miller, N (June 2011). "The impact of rumination on aggressive thoughts, feelings, arousal, and behaviour". British Journal of Social Psychology. 50 (2): 281–301. doi:10.1348/014466610X515696. PMID 21545459. S2CID 207265785.
* Tsai, W.; Chang, E. C., Sanna, L. J., & Herringshaw, A. J., N (Sep 2011). "An examination of happiness as a buffer of the rumination–adjustment link: Ethnic differences between European and Asian American students". Asian American Journal of Psychology. 2 (3): 168–180. doi:10.1037/a0025319. S2CID 43930297.CS1 maint: multiple names: authors list (link)
* Baer, R.; Sauer, S. E. (Nov 2010). "Relationships between depressive rumination, anger rumination, and borderline personality features". Personality Disorders: Theory, Research, and Treatment. 2 (2): 142–150. doi:10.1037/a0019478. PMID 22448733. S2CID 17006066.
* Simonson, J.; Mezulis, A., & Davis, K., N (Nov 2011). "Socialized to ruminate? Gender role mediates the sex difference in rumination for interpersonal events". Journal of Social and Clinical Psychology. 30 (9): 937–959. doi:10.1521/jscp.2011.30.9.937. S2CID 30249771.CS1 maint: multiple names: authors list (link)
* Dickson, K.; Ciesla, J. A.; Reilly, L. C. (Dec 2011). "Rumination, worry, cognitive avoidance, and behavioral avoidance: Examination of temporal effects". Behavior Therapy. 43 (3): 937–959. doi:10.1016/j.beth.2011.11.002. PMID 22697450.
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Rumination (psychology)
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None
| 7,997 |
wikipedia
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https://en.wikipedia.org/wiki/Rumination_(psychology)
| 2021-01-18T18:37:53 |
{"wikidata": ["Q1411912"]}
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A number sign (#) is used with this entry because of evidence that Muir-Torre syndrome is part of the Lynch cancer family syndrome II (see 120435), which has been related to mutation in the MSH2 gene (609309) on chromosome 2p.
MRTES can also be caused by mutation in the MLH1 gene (120436) on chromosome 3p.
Clinical Features
Muir-Torre syndrome represents the association of sebaceous skin tumors with internal malignancy. The Gardner and Peutz-Jeghers syndromes are examples of skin-polyposis syndromes. Polyps of the stomach have been reported with the basal cell nevus syndrome (109400). Muir et al. (1967) described a Maltese male with multiple primary carcinomata of the colon, duodenum, and larynx in association with keratoacanthomata of the face. Although he was one of 22 sibs, including 4 sets of twins, no family history of malignancy was obtained. Torre (1968) emphasized the occurrence of multiple sebaceous tumors (sebaceous adenoma) in a patient who had a primary carcinoma of the ampulla of Vater resected at age 50 years and a primary carcinoma of the colon resected at age 53. Stewart et al. (1977) reported a woman who had 11 keratoacanthomata removed over a 21-year period and who also had Bowen disease of the vulva and a carcinoma of the rectum. The cancers, although multiple, are usually relatively indolent.
Reiffers et al. (1976) presented evidence for autosomal dominant inheritance including male-to-male transmission. The families have characteristics of the Lynch II cancer family syndrome. Lynch et al. (1981) observed sebaceous neoplasms in affected members of cancer families and postulated that the purportedly distinct Muir-Torre syndrome is actually one mode of manifestation of the cancer family syndrome. Lynch et al. (1981) expressed doubts that intestinal polyposis is a part of this syndrome. See also Lynch et al. (1985), who reported continuing uncertainty as to the nosologic place of the Muir-Torre syndrome.
That the Muir-Torre phenotype is an expression of the Lynch II cancer family syndrome was supported by the fact that one of the cases described by Lynch et al. (1981) was found to be a descendant of Warthin's family G which is considered to be the first description of the familial cancer syndrome now termed 'Lynch II' (Finan and Connolly, 1984).
Rothenberg et al. (1990) described 2 cases suggesting that a single sebaceous adenoma can be the sole tip-off to the presence of colon cancer in the Muir-Torre syndrome. A 68-year-old woman had a solitary, 2-mm tumor of the forehead. Both she and her mother had had colonic resections for carcinomas. A 50-year-old male physician with a solitary, 6-mm sebaceous adenoma removed from the scalp was investigated for colonic abnormalities and found to have a fungating low-grade adenocarcinoma at the splenic flexure. The man's father had had a colon carcinoma removed at the age of 29 years. Guitart et al. (1991) described a case of a 44-year-old man with a keratoacanthoma of the left nasolabial fold; his mother died of gastric carcinoma and his sister of colonic cancer. He and his brother had alpha-1-antitrypsin deficiency (613490). The keratoacanthoma developed after immunosuppressive therapy for necrotizing vasculitis. Stone et al. (1986) reported a patient with Muir-Torre syndrome in whom exacerbation of the cutaneous lesions occurred during immunosuppression after heart transplant. Cohen (1992) used the label Muir-Torre syndrome in describing a man with Hodgkin lymphoma who subsequently developed a sebaceous carcinoma of the upper eyelid. Rodenas et al. (1993) reported a family in which multiple members had the Muir-Torre syndrome and hyperlipidemia.
Approximately 15% of female patients with Muir-Torre syndrome develop endometrial cancer (Cohen et al., 1991).
Schwartz and Torre (1995) reviewed the Muir-Torre syndrome defined as the association of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, with one or more low-grade visceral malignancies in the absence of other predisposing factors. The sebaceous tumors were relatively uncommon or rare types: sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, and sebaceous carcinoma. They suggested that the visceral cancers are often multiple and usually indolent, permitting prolonged survival. Even metastatic disease may respond well to aggressive surgical treatment. The sebaceous cancers in this syndrome, like the visceral malignancies, are less aggressive than their counterparts unassociated with this syndrome.
Akhtar et al. (1999) stated that only 205 cases of Muir-Torre syndrome with 399 internal malignancies had been reported. The common presentation was the presence of sebaceous tumors along with a low-grade visceral malignancy. Sebaceous tumors appeared before the internal malignancy in 45 cases (22%), concurrently in 12 (6%), and after the internal malignancy in 114 (56%). In 33 (16%) of the 205 patients, a temporal relationship of the 2 features was not reported. The total number of sebaceous gland carcinomas reported was 44; 17 of 44 were neoplasms of the meibomian gland. Keratoacanthomas were noted in 48 (23%) of 205 patients. Gastrointestinal cancers are the most common internal malignancies (61%), followed by genitourinary (22%).
Holbach et al. (2002) examined biopsy specimens of periocular sebaceous gland carcinoma from 6 patients with Muir-Torre syndrome. They found that the fragile histidine triad protein (FHIT; 601153) was detectable in just 1 sebaceous gland carcinoma from 1 patient with microsatellite instability. FHIT was undetectable in the remaining 5 sebaceous gland carcinomas, which showed no evidence of microsatellite instability. The authors concluded that inactivation of the FHIT tumor suppressor gene or inactivation of the mismatch-repair system resulting in microsatellite instability might contribute to the development of periocular sebaceous gland carcinoma in Muir-Torre syndrome.
Diagnosis
Ponti et al. (2005) concluded that the clinical, biomolecular, and immunohistochemical characteristics of sebaceous skin lesions and keratoacanthomas can be used in screening for families at risk of Muir-Torre syndrome. Through pathology records, they collected 120 patients with sebaceous skin lesions and keratoacanthomas. Seven of the 120 patients were also affected by gastrointestinal tumors, thus meeting the clinical criteria for the disorder. In the Muir-Torre syndrome families, a wide phenotypic variability was evident, both in the spectrum of visceral tumors and in the type of skin lesions. Microsatellite instability was found in 5 patients. A constitutional mutation in the MSH2 gene was found in 1 patient. Lack of expression of MSH2/MSH6 (600678) or MLH1 proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients, respectively.
Roberts et al. (2014) developed a scoring system, based on logistic regression analysis, for patients with sebaceous neoplasm to identify those with the highest likelihood of having Muir-Torre syndrome. The final version of the scoring system included variables such as age at presentation of initial sebaceous neoplasm, total number of sebaceous neoplasms, personal history of a Lynch-related cancer, and family history of Lynch-related cancers. Patients with a score of 3 or more were more likely to have Muir-Torre syndrome (28 of 29 patients), whereas those with a score of 2 had intermediate likelihood (12 of 20 patients); no patient with a score of 0 or 1 was diagnosed with Muir-Torre syndrome. Roberts et al. (2014) concluded that the Mayo Muir-Torre syndrome risk scoring system appeared to identify whether patients who present with sebaceous neoplasms are in need of further Lynch syndrome evaluation. The authors pointed out that abnormal mismatch repair gene immunohistochemistry of a sebaceous neoplasm is a poor predictor in regard to diagnosing Lynch syndrome.
Mapping
Hall et al. (1994) reported a 5-generation family in which at least 2 persons displayed the Muir-Torre phenotype, while many other family members had tumors consistent with cancer family syndrome. Most of the tumors were gastrointestinal, gynecologic, and urologic, with several persons having multiple synchronous or metachronous primaries. The prognosis appeared to be better than might be expected. Hall et al. (1994) found that in this and a second Muir-Torre family, the disease locus mapped to 2p in the same region as the Lynch II syndrome, namely to the MSH2 locus. Haplotype analysis of the pedigree showed that the persons with colorectal or endometrial cancer (with or without sebaceous lesions of the skin) shared the same segment of 2p at this locus.
Molecular Genetics
Kruse et al. (1996) identified germline mutations in the MSH2 DNA mismatch repair gene in 2 unrelated Muir-Torre syndrome patients ascertained because of their skin tumors. They suggested that the results, together with published cases of Muir-Torre syndrome, supported the hypothesis that this disorder with its characteristic skin lesions is confined to mutations in the MSH2 gene. They tabulated 4 reported cases in addition to the 2 of their own.
Bapat et al. (1996) demonstrated that mutation in the MLH1 locus can also underlie the Muir-Torre syndrome (see 120436.0006).
About half of Muir-Torre syndrome cases, defined as the coincidence of at least 1 sebaceous skin tumor and 1 internal malignancy, are affected by colorectal cancer. In a subgroup of MRTES patients, the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). In 16 MRTES patients with sebaceous skin tumors and colorectal cancer, Kruse et al. (1998) found that all exhibited high genomic instability in at least 1 tumor from the skin or colon. A search for germline mutations in the MSH2 and MLH1 genes in 13 of the patients revealed truncating mutations in 9 (69%): 8 mutations in the MSH2 gene and 1 in the MLH1 gene. Thus, MRTES patients exhibited significantly more mutations in the MHS2 gene than in the MLH1 gene. The subpopulation of MRTES patients who were also affected by colorectal cancer, irrespective of family history and age at onset of tumors are likely to have an underlying DNA MMR defect similar to that for patients with a family history fulfilling the strict clinical criteria for HNPCC.
In Muir-Torre syndrome, the vast majority of germline mutations identified have been in MSH2. Microsatellite instability in tumor tissue develops after somatic inactivation of the corresponding second mismatch repair allele ('second hit'). Kruse et al. (2001) examined whether allele loss (loss of heterozygosity; LOH) is a frequent mechanism for inactivation of the second MSH2 allele in a sample of 9 microsatellite instability-positive skin tumors from 8 unrelated Muir-Torre patients with known MSH2 germline mutations. Only 1 of the 9 skin tumors exhibited LOH at the MSH2 locus. Kruse et al. (2001) concluded that LOH most probably is not the preferred mode of somatic inactivation of the second MSH2 allele.
Barana et al. (2004) reported the first family with Muir-Torre syndrome harboring a large deletion involving exons 1-6 of the MSH2 gene (609309.0023). The family had 3 affected individuals in 2 generations. The father had 2 metachronous colon cancers starting at age 53 years, a daughter had a colon and ovarian cancer starting at age 42 years, and a son was affected by an adenoma with a focus of carcinoma at age 47 years. All 3 affected members presented with cutaneous lesions characteristic of MRTES.
Mangold et al. (2004) screened for mutations in the MSH2 and MLH1 genes in 41 unrelated index patients diagnosed with Muir-Torre syndrome, most of whom were preselected for mismatch repair deficiency in their tumor tissue. Germline mutations were identified in 27 patients (mutation detection rate of 66%). Mangold et al. (2004) noted that 25 (93%) of the mutations were located in MSH2, in contrast to HNPCC patients without the MRTES phenotype, in whom the proportions of MLH1 and MSH2 mutations are almost equal (p less than 0.001). Mangold et al. (2004) further noted that 6 (22%) of the mutation carriers did not meet the Bethesda criteria for HNPCC and suggested that sebaceous neoplasm be added to the HNPCC-specific malignancies in the Bethesda guidelines.
Animal Model
Fong et al. (2000) found that 100% of mice heterozygous for knockout of the Fhit gene developed multiple tumors of the forestomach that were a mixture of adenomas, squamous papillomas, and invasive carcinomas, as well as tumors of sebaceous glands, within 10 weeks after treatment intragastrically with nitrosomethylbenzylamine; adenoma or papilloma of the forestomach had developed in only 25% of the homozygous wildtype (+/+) mice.
INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Colonic diverticula (early onset) SKIN, NAILS, & HAIR Skin \- Sebaceous gland tumors \- Keratoacanthomas NEOPLASIA \- Sebaceous carcinoma \- Sebaceous epitheliomas \- Sebaceous adenomas \- Basal cell carcinoma \- Colon cancer \- Duodenal carcinoma \- Laryngeal carcinoma \- Benign gastrointestinal tract tumors \- Benign genitourinary tract tumors \- Malignant gastrointestinal tract tumors \- Malignant genitourinary tract tumors \- Breast cancer MOLECULAR BASIS \- Caused by mutation in the DNA mismatch repair protein MLH1 gene (MLH1, 120436.0006 ) \- Caused by mutation in the mutS homolog 2 gene (MSH2, 120435.0006 ) ▲ 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
|
MUIR-TORRE SYNDROME
|
c1321489
| 7,998 |
omim
|
https://www.omim.org/entry/158320
| 2019-09-22T16:37:59 |
{"doid": ["0050465"], "mesh": ["D055653"], "omim": ["158320"], "orphanet": ["587"], "synonyms": ["Alternative titles", "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS"], "genereviews": ["NBK1211"]}
|
human chronic inflammatory disease
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (October 2012) (Learn how and when to remove this template message)
Lichen nitidus
Photography of lichen nitidus: A) Glistening forearm papules; B) Papular lesions of lower limbs
SpecialtyDermatology
Lichen nitidus is a chronic inflammatory disease of unknown cause [1] characterized by 1–2 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules[2][3] that may appear as hypopigmented against dark skin. Occasionally, minimal scaling is present or can be induced by rubbing the surface of the papules.[3] The disease usually affects children and young adults[4] and is painless and usually nonpruritic, although protracted itching may occur in some cases.[3][5] It is sometimes referred to by dermatologists as "mini lichen planus".
## Contents
* 1 Presentation
* 2 Pathology
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Presentation[edit]
Linear arrangements of these papules is common (referred to as a Koebner phenomenon), especially on the forearms,[2][5] but may occasionally be grouped, though not confluent, on flexural areas.[2] Generally, the initial lesions are localized, and remain so, to the chest, abdomen, glans penis, and flexor aspects of the upper extremities;[6] however, less commonly, the disease process can (1) be strictly isolated to the palms and soles,[7] presenting with many hyperkeratotic, yellow papules that may coalesce into plaques that fissure[3][7] or “...sometimes a non-specific keratoderma resembling chronic eczema,”[7] or (2) become more widespread, with papules widely distributed on the body—the extensor surfaces of the elbows, wrists, and hands, folds of the neck, submammary region in females, groin, thighs, ankles, and feet[1][2]—and fusing into erythematous, minimally scaled plaques, with redness that develops tints of violet, brown, and yellow.[3][4]
## Pathology[edit]
Histopathology of lichen nitidus: Downward extension of the rete ridges at the lateral margins of a lymphohistiocytic infiltrate, resulting in a typical "claw clutching a ball" appearance.
The histology of lichen nitidus is significant for a "...localized granulomatous lymphohistiocytic infiltrate in an expanded dermal papilla with thinning of overlying epidermis and downward extension of the rete ridges at the lateral margin of the infiltrate, producing a typical 'claw clutching a ball' picture...."[1]
## Treatment[edit]
Generally, lichen nitidus is asymptomatic and self-limited; therefore, no treatment is required. However, if persistent pruritus is present, or the appearance “...interferes with daily activities or outlook...”[2] topical glucocorticoids may be tried. If the disease process is symptomatic, generalized and extensive, oral glucocorticoids may be indicated.[2] Other reported treatments include PUVA, UVA/UVB phototherapy,[6] astemizole,[1] acitretin, and etretinate.[2] When appears with sun/humidity; air conditioning (cool dry air) reduces swelling and discomfort.
## See also[edit]
* Lichen planus
* List of cutaneous conditions
## References[edit]
1. ^ a b c d Al-Mutairi N, Hassanein A, Nour-Eldin O, Arun J (2005). "Generalized lichen nitidus". Pediatr Dermatol. 22 (2): 158–60. doi:10.1111/j.1525-1470.2005.22215.x. PMID 15804308.
2. ^ a b c d e f g Berger, Timothy G.; Odom, Richard B.; Andrews, George E.; James, William D. (2000). Andrews' Diseases of the skin: clinical dermatology. Philadelphia: W. B. Saunders. pp. 277–80. ISBN 0-7216-5832-6.
3. ^ a b c d e Fitzpatrick, Thomas B.; Freedberg, Irwin M. (1999). Fitzpatrick's dermatology in general medicine. New York: McGraw-Hill, Health Professions Division. pp. 577–81. ISBN 0-07-912938-2.
4. ^ a b Soroush V, Gurevitch AW, Peng SK (1999). "Generalized lichen nitidus: case report and literature review". Cutis. 64 (2): 135–6. PMID 10467510.
5. ^ a b Maeda M (1994). "A case of generalized lichen nitidus with Koebner's phenomenon". J. Dermatol. 21 (4): 273–7. PMID 8056902.
6. ^ a b Do MO, Kim MJ, Kim SH, Myung KB, Choi YW (2007). "Generalized Lichen Nitidus Successfully Treated with Narrow-band UVB Phototherapy : Two Cases Report". J. Korean Med. Sci. 22 (1): 163–6. doi:10.3346/jkms.2007.22.1.163. PMC 2693559. PMID 17297274.[dead link]
7. ^ a b c Thibaudeau A, Maillard H, Croué A, Belperron P, Avenel Audran M, Verret JL (2004). "[Palmoplantar lichen nitidus: a rare cause of palmoplantar hyperkeratosis.]". Ann Dermatol Venereol (in French). 131 (8–9): 822–4. doi:10.1016/S0151-9638(04)93769-6. PMID 15505553.
## External links[edit]
Classification
D
* ICD-10: L44.1
* ICD-9-CM: 697.1
* MeSH: D017513
* DiseasesDB: 34283
External resources
* eMedicine: derm/232
* Lichen Nitidus at DermNet photo library
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
* Myxoid cyst
Rashes
With
epidermal
involvement
Eczematous
* Contact dermatitis
* Atopic dermatitis
* Seborrheic dermatitis
* Stasis dermatitis
* Lichen simplex chronicus
* Darier's disease
* Glucagonoma syndrome
* Langerhans cell histiocytosis
* Lichen sclerosus
* Pemphigus foliaceus
* Wiskott–Aldrich syndrome
* Zinc deficiency
Scaling
* Psoriasis
* Tinea (Corporis
* Cruris
* Pedis
* Manuum
* Faciei)
* Pityriasis rosea
* Secondary syphilis
* Mycosis fungoides
* Systemic lupus erythematosus
* Pityriasis rubra pilaris
* Parapsoriasis
* Ichthyosis
Blistering
* Herpes simplex
* Herpes zoster
* Varicella
* Bullous impetigo
* Acute contact dermatitis
* Pemphigus vulgaris
* Bullous pemphigoid
* Dermatitis herpetiformis
* Porphyria cutanea tarda
* Epidermolysis bullosa simplex
Papular
* Scabies
* Insect bite reactions
* Lichen planus
* Miliaria
* Keratosis pilaris
* Lichen spinulosus
* Transient acantholytic dermatosis
* Lichen nitidus
* Pityriasis lichenoides et varioliformis acuta
Pustular
* Acne vulgaris
* Acne rosacea
* Folliculitis
* Impetigo
* Candidiasis
* Gonococcemia
* Dermatophyte
* Coccidioidomycosis
* Subcorneal pustular dermatosis
Hypopigmented
* Tinea versicolor
* Vitiligo
* Pityriasis alba
* Postinflammatory hyperpigmentation
* Tuberous sclerosis
* Idiopathic guttate hypomelanosis
* Leprosy
* Hypopigmented mycosis fungoides
Without
epidermal
involvement
Red
Blanchable
Erythema
Generalized
* Drug eruptions
* Viral exanthems
* Toxic erythema
* Systemic lupus erythematosus
Localized
* Cellulitis
* Abscess
* Boil
* Erythema nodosum
* Carcinoid syndrome
* Fixed drug eruption
Specialized
* Urticaria
* Erythema (Multiforme
* Migrans
* Gyratum repens
* Annulare centrifugum
* Ab igne)
Nonblanchable
Purpura
Macular
* Thrombocytopenic purpura
* Actinic/solar purpura
Papular
* Disseminated intravascular coagulation
* Vasculitis
Indurated
* Scleroderma/morphea
* Granuloma annulare
* Lichen sclerosis et atrophicus
* Necrobiosis lipoidica
Miscellaneous
disorders
Ulcers
*
Hair
* Telogen effluvium
* Androgenic alopecia
* Alopecia areata
* Systemic lupus erythematosus
* Tinea capitis
* Loose anagen syndrome
* Lichen planopilaris
* Folliculitis decalvans
* Acne keloidalis nuchae
Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
* Syphilis
* Systemic histoplasmosis
* Squamous-cell carcinoma
* v
* t
* e
Papulosquamous disorders
Psoriasis
Pustular
* Generalized pustular psoriasis (Impetigo herpetiformis)
* Acropustulosis/Pustulosis palmaris et plantaris (Pustular bacterid)
* Annular pustular psoriasis
* Localized pustular psoriasis
Other
* Guttate psoriasis
* Psoriatic arthritis
* Psoriatic erythroderma
* Drug-induced psoriasis
* Inverse psoriasis
* Napkin psoriasis
* Seborrheic-like psoriasis
Parapsoriasis
* Pityriasis lichenoides (Pityriasis lichenoides et varioliformis acuta, Pityriasis lichenoides chronica)
* Lymphomatoid papulosis
* Small plaque parapsoriasis (Digitate dermatosis, Xanthoerythrodermia perstans)
* Large plaque parapsoriasis (Retiform parapsoriasis)
Other pityriasis
* Pityriasis rosea
* Pityriasis rubra pilaris
* Pityriasis rotunda
* Pityriasis amiantacea
Other lichenoid
Lichen planus
* configuration
* Annular
* Linear
* morphology
* Hypertrophic
* Atrophic
* Bullous
* Ulcerative
* Actinic
* Pigmented
* site
* Mucosal
* Nails
* Peno-ginival
* Vulvovaginal
* overlap synromes
* with lichen sclerosus
* with lupus erythematosis
* other:
* Hepatitis-associated lichen planus
* Lichen planus pemphigoides
Other
* Lichen nitidus
* Lichen striatus
* Lichen ruber moniliformis
* Gianotti–Crosti syndrome
* Erythema dyschromicum perstans
* Idiopathic eruptive macular pigmentation
* Keratosis lichenoides chronica
* Kraurosis vulvae
* Lichen sclerosus
* Lichenoid dermatitis
* Lichenoid reaction of graft-versus-host 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
|
Lichen nitidus
|
c0162849
| 7,999 |
wikipedia
|
https://en.wikipedia.org/wiki/Lichen_nitidus
| 2021-01-18T19:03:58 |
{"mesh": ["D017513"], "umls": ["C0162849"], "wikidata": ["Q6543200"]}
|
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