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## Mapping
To investigate genetic factors involved in the variability of prostate cancer (176807) aggressiveness, Witte et al. (2000) conducted a genomewide linkage analysis of 513 brothers with prostate cancer using the Gleason score, which reflects tumor histology, as a quantitative measure of prostate cancer aggressiveness. To their knowledge, this was the first time that a measure of prostate cancer aggressiveness had been directly investigated as a quantitative trait in a genomewide scan. Candidate regions were identified on chromosomes 5q, 7q, and 19q.
Slager et al. (2003) analyzed genome scan data from 161 pedigrees affected with prostate cancer using the Gleason score as a quantitative measure of tumor aggressiveness. Their results confirmed the assignment of a prostate cancer aggressiveness quantitative trait locus to chromosome 19q (D19S902; p less than 0.00001). In addition, they reported suggestive evidence for linkage to chromosome 4.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
|
c1843533
| 8,600 |
omim
|
https://www.omim.org/entry/607592
| 2019-09-22T16:09:01 |
{"omim": ["607592"], "synonyms": ["Alternative titles", "HPCQTL19"]}
|
Metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2] The condition gets its name from the distinctive sweet odor of affected infants' urine
Maple syrup urine disease
Other namesBranched-chain ketoaciduria
Isoleucine (pictured above), leucine, and valine are the branched-chain amino acids that build up in MSUD.
SpecialtyMedical genetics
Maple syrup urine disease (MSUD) is an autosomal recessive[1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia.[2] The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis and during times of acute illness.[3]
## Contents
* 1 Classification
* 2 Signs and symptoms
* 2.1 Classic MSUD
* 2.2 Intermediate MSUD
* 2.3 Intermittent MSUD
* 2.4 Thiamine-response MSUD
* 2.5 Later onset
* 3 Causes
* 4 Pathophysiology
* 5 Diagnosis
* 6 Prevention
* 7 Treatment
* 7.1 Monitoring
* 7.2 Diet control
* 7.3 Liver transplantation
* 7.4 Pregnancy
* 8 Prognosis
* 9 Epidemiology
* 10 Research directions
* 10.1 Gene therapy
* 10.2 Phenylbutyrate therapy
* 11 See also
* 12 References
* 13 External links
## Classification[edit]
Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms. Variant forms of the disorder may become apparent only later in infancy or childhood, with typically less severe symptoms that may only appear during times of fasting, stress or illness, but still involve mental and physical problems if left untreated.
Sub-divisions of MSUD:
1. Classic MSUD
2. Intermediate MSUD
3. Intermittent MSUD
4. Thiamine-responsive MSUD
Generally, majority of patients will be classified into one of these four categories but some patients affected by MSUD do not fit the criteria for the listed sub-divisions and will be deemed unclassified MSUD.[4]
## Signs and symptoms[edit]
The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic crisis. Along with the smell being present in ear wax of an affected individual during metabolic crisis. In populations to whom maple syrup is unfamiliar, the aroma can be likened to fenugreek, and fenugreek ingestion may impart the aroma to urine.[5] Symptoms of MSUD varies between patients and is greatly related to the amount of residual enzyme activity.
### Classic MSUD[edit]
Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. The infant will then experience increased focal neurologic signs. These neurologic signs include athetoid, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues.[4]
### Intermediate MSUD[edit]
Intermediate MSUD has greater levels of residual enzyme activity than classic MSUD. The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Symptoms associated with classic MSUD also appear in intermediate MSUD.[4]
### Intermittent MSUD[edit]
Contrary to classic and intermediate MSUD, intermittent MSUD individuals will have normal growth and intellectual development. Symptoms of lethargy and characterized odor of maple syrup will occur when the individual experiences stress, does not eat, or develops an infection. Metabolic crisis leading to seizures, coma, and brain damage is still a possibility.[4]
### Thiamine-response MSUD[edit]
Symptoms associated with thiamine-response MSUD are similar to intermediate MSUD. Newborns rarely present with symptoms.[4]
### Later onset[edit]
The symptoms of MSUD may also present later depending on the severity of the disease.[5] Untreated in older individuals, and during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme or erratic behaviour and moods, hallucinations, lack of appetite, weight loss,[5] anemia, diarrhea, vomiting, dehydration, lethargy,[5] oscillating hypertonia and hypotonia,[5] ataxia,[5] seizures,[5] hypoglycaemia, ketoacidosis, opisthotonus, pancreatitis,[6] rapid neurological decline, and coma.[5] Death from cerebral edema will likely occur if there is no treatment.[5] Additionally, MSUD patients experience an abnormal course of diseases in simple infections that can lead to permanent damage.
## Causes[edit]
Maple syrup urine disease has an autosomal recessive pattern of inheritance.
Mutations in the following genes cause maple syrup urine disease:
* BCKDHA (Online Mendelian Inheritance in Man (OMIM): 608348)
* BCKDHB (Online Mendelian Inheritance in Man (OMIM): 248611)
* DBT (Online Mendelian Inheritance in Man (OMIM): 248610)
* DLD (Online Mendelian Inheritance in Man (OMIM): 238331)
These four genes produce proteins that work together as the branched-chain alpha-keto acid dehydrogenase complex. The complex is essential for breaking down the amino acids leucine, isoleucine, and valine. These are present in some quantity in almost all kinds of food, but in particular, protein-rich foods such as dairy products, meat, fish, soy, gluten, eggs, nuts, whole grains, seeds, avocados, algae, edible seaweed, beans, and pulses. Mutation in any of these genes reduces or eliminates the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine. As a result, these amino acids and their by-products build up in the body. Because high levels of these substances are toxic to the brain and other organs, this accumulation leads to the serious medical problems associated with maple syrup urine disease.
This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene – one from each parent – must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.
## Pathophysiology[edit]
MSUD is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine.The buildup of these BCAAS will lead to the maple syrup odor that is associated with MSUD. The BCKAD complex begins by breaking down leucine, isoleucine, and valine through the use of branch-chain aminotransferase into their relevant α-ketoacids. The second step involves the conversion of α-ketoacids into acetoacetate, acetyl-CoA, and succinyl-CoA through oxidative decarboxylation of α-ketoacids. The BCKAD complex consists of four subunits designated E1α, E1β, E2, and E3. The E3 subunit is also a component of pyruvate dehydrogenase complex and oxoglutarate dehydrogenase complex.[7] MSUD can result from mutations in any of the genes that code for these enzyme subunits, E1α, E1β, E2, and E3. Mutations of these enzyme subunits will lead to the BCKAD complex unable to break down leucine, isoleucine, and valine. The levels of these branched chain amino acids will become elevated and lead to the symptoms associated with MSUD. Glutamate levels are maintained in the brain by BCAA metabolism functions and if not properly maintained can lead to neurological problems that are seen in MSUD individuals. High levels of leucine has also been shown to affect water homeostasis within subcortical gray matter leading to cerebral edema, which occurs in MSUD patients if left untreated.
## Diagnosis[edit]
Prior to the easy availability of plasma amino acid measurement, diagnosis was commonly made based on suggestive symptoms and odor. Affected individuals are now often identified with characteristic elevations on plasma amino acids which do not have the characteristic odor.[5] The compound responsible for the odor is sotolon (sometimes spelled sotolone).[6]
On 9 May 2014, the UK National Screening Committee (UK NSC) announced its recommendation to screen every newborn baby in the UK for four further genetic disorders as part of its NHS Newborn Blood Spot Screening programme, including maple syrup urine disease.[8] The disease is estimated to affect 1 out of 185,000 infants worldwide and its frequency increases with certain heritages.[3]
Newborn screening for maple syrup urine disease involves analyzing the blood of 1–2 day-old newborns through tandem mass spectrometry. The blood concentration of leucine and isoleucine is measured relative to other amino acids to determine if the newborn has a high level of branched-chain amino acids. Once the newborn is 2–3 days old the blood concentration of branched-chain amino acids like leucine is greater than 1000 µmol/L and alternative screening methods are used. Instead, the newborn's urine is analyzed for levels of branched-chain alpha-hydroxyacids and alpha-ketoacids.[6]
The amount and type of enzyme activity in an affected individual with MSUD will determine which classification the affected individual will identify with.
Classic MSUD: Less than 2% of normal enzyme activity
Intermediate MSUD: 3-8% normal enzyme activity
Intermittent MSUD: 8-15% of normal enzyme activity
Thiamine-Responsive MSUD: Large doses of thiamine will increase enzyme activity.[9]
## Prevention[edit]
There are no methods for preventing the manifestation of the pathology of MSUD in infants with two defective copies of the BCKD gene. However, genetic counselors may consult with couples to screen for the disease via DNA testing. DNA testing is also available to identify the disease in an unborn child in the womb.[10]
## Treatment[edit]
### Monitoring[edit]
Keeping MSUD under control requires careful monitoring of blood chemistry, both at home and in a hospital setting. DNPH or specialised dipsticks may be used to test the patient's urine for ketones (a sign of metabolic decompensation), when metabolic stress is likely or suspected. Fingerstick tests are performed regularly and sent to a laboratory to determine blood levels of leucine, isoleucine, and valine. Regular metabolic consultations, including blood-draws for full nutritional analysis, are recommended; especially during puberty and periods of rapid growth. MSUD management also involves a specially tailored metabolic formula, a modified diet, and lifestyle precautions such as avoiding fatigue and infections, as well as consuming regular, sufficient calories in proportion to physical stress and exertion. Without sufficient calories, catabolism of muscle protein will result in metabolic crisis. Those with MSUD must be hospitalised for intravenous infusion of sugars and nasogastric drip-feeding of formula, in the event of metabolic decompensation, or lack of appetite, diarrhea or vomiting. Food avoidance, rejection of formula and picky eating are all common problems with MSUD. Some patients may need to receive all or part of their daily nutrition through a feeding tube.
### Diet control[edit]
A diet with carefully controlled levels of the amino acids leucine, isoleucine, and valine must be maintained at all times in order to prevent neurological damage. Since these three amino acids occur in all natural protein, and most natural foods contain some protein, any food intake must be closely monitored, and day-to-day protein intake calculated on a cumulative basis, to ensure individual tolerance levels are not exceeded at any time. As the MSUD diet is so protein-restricted, and adequate protein is a requirement for all humans, tailored metabolic formula containing all the other essential amino acids, as well as any vitamins, minerals, omega-3 fatty acids and trace elements (which may be lacking due to the limited range of permissible foods), are an essential aspect of MSUD management. These complement the MSUD patient's natural food intake to meet normal nutritional requirements without causing harm.[11] If adequate calories cannot be obtained from natural food without exceeding protein tolerance, specialised low protein products such as starch-based baking mixtures, imitation rice and pasta may be prescribed, often alongside a protein-free carbohydrate powder added to food and/or drink, and increased at times of metabolic stress. MSUD patients with thiamine- responsive MSUD can have a higher protein intake diet with administration of high doses of thiamine, a cofactor of the enzyme that causes the condition. The typical dosage amount of thiamine-responsive MSUD depends on the enzyme activity present and can range from 10 mg - 100 mg daily.
### Liver transplantation[edit]
Usually MSUD patients are monitored by a dietitian. Liver transplantation is a treatment option that can completely and permanently normalise metabolic function, enabling discontinuation of nutritional supplements and strict monitoring of biochemistry and caloric intake, relaxation of MSUD-related lifestyle precautions, and an unrestricted diet. This procedure is most successful when performed at a young age, and weaning from immunosuppressants may even be possible in the long run. However, the surgery is a major undertaking requiring extensive hospitalisation and rigorous adherence to a tapering regimen of medications. Following transplant, the risk of periodic rejection will always exist, as will the need for some degree of lifelong monitoring in this respect. Despite normalising clinical presentation, liver transplantation is not considered a cure for MSUD. The patient will still carry two copies of the mutated BKAD gene in each of their own cells, which will consequently still be unable to produce the missing enzyme. They will also still pass one mutated copy of the gene on to each of their biological children. As a major surgery the transplant procedure itself also carries standard risks, although the odds of its success are greatly elevated when the only indication for it is an inborn error of metabolism. In absence of a liver transplant, the MSUD diet must be adhered to strictly and permanently. However, in both treatment scenarios, with proper management, those afflicted are able to live healthy, normal lives without suffering the severe neurological damage associated with the disease.
### Pregnancy[edit]
Control of metabolism is vital during pregnancy of women with MSUD. To prevent detrimental abnormalities in development of the embryo or fetus, dietary adjustments should be made and plasma amino acid concentrations of the mother should be observed carefully and frequently. Amino acid deficiency can be detected through fetal growth, making it essential to monitor development closely.[6]
## Prognosis[edit]
If left untreated, MSUD will lead to death due to central neurological function failure and respiratory failure. Early detection, diet low in branched-chain amino acids, and close monitoring of blood chemistry can lead to a good prognosis with little or no abnormal developments. Even with proper treatment, metabolic crisis is still likely to occur and can lead to death without immediate medical treatment.
## Epidemiology[edit]
Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. Its prevalence in the United States population is approximately 1 newborn out of 180,000 live births. However, in populations where there is a higher frequency of consanguinity, such as the Mennonites in Pennsylvania or the Amish, the frequency of MSUD is significantly higher at 1 newborn out of 176 live births. In Austria, 1 newborn out of 250,000 live births inherits MSUD.[12] It also is believed to have a higher prevalence in certain populations due in part to the founder effect[13] since MSUD has a much higher prevalence in children of Amish, Mennonite, and Jewish descent.[14][15][16]
## Research directions[edit]
### Gene therapy[edit]
Gene therapy to overcome genetic mutations cause MSUD has already been proven safe in animals studies with MSUD. The gene therapy involves a healthy copy of the gene causing MSUD is produced and inserted into a viral vector. The adeno-associated virus vector is delivered one-time to the patient intravenously. Hepatocytes will take up vector and functional copies of the affected gene is MSUD patients will be expressed. This will allow BCAA to be broken down properly and prevent toxic build up.[17]
### Phenylbutyrate therapy[edit]
Sodium phenylacetate/benzoate or sodium phenylbutyrate has been shown to reduce BCAA in a clinical trial done February 2011. Phenylbutyrate treatment reduced the blood concentration of BCAA and their corresponding BCKA in certain groups of MSUD patients and may be a possible adjunctive treatment.[18]
## See also[edit]
* Isovaleric acidemia
* Methylmalonic acidemia
* Propionic acidemia
* John Menkes
## References[edit]
1. ^ Podebrad F, Heil M, Reichert S, Mosandl A, Sewell AC, Böhles H (April 1999). "4,5-dimethyl-3-hydroxy-25H-furanone (sotolone)--the odour of maple syrup urine disease". Journal of Inherited Metabolic Disease. 22 (2): 107–114. doi:10.1023/A:1005433516026. PMID 10234605. S2CID 6426166.
2. ^ Ogier de Baulny H, Saudubray JM (2002). "Branched-chain organic acidurias". Semin Neonatol. 7 (1): 65–74. doi:10.1053/siny.2001.0087. PMID 12069539.
3. ^ a b "Maple syrup urine disease". Genetics Home Reference. July 2017.
4. ^ a b c d e "NORD - Maple Syrup Urine Disease". Retrieved 13 December 2019.
5. ^ a b c d e f g h i j "OMIM Entry - # 248600 - MAPLE SYRUP URINE DISEASE; MSUD". www.omim.org. Retrieved 2016-11-14.
6. ^ a b c d Strauss, Kevin A.; Puffenberger, Erik G.; Morton, D. Holmes (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Maple Syrup Urine Disease. Seattle (WA): University of Washington, Seattle. PMID 20301495.
7. ^ Pasquali, Marzia; Longo, Nicola (December 13, 2011). "58. Newborn screening and inborn errors of metabolism". In Burtis, Carl A.; Ashwood, Edward R.; Bruns, David E. (eds.). Tietz Textbook of Clinical Chemistry and Molecular Diagnostics (5th ed.). Elsevier Health Sciences. p. 2062. ISBN 978-1-4160-6164-9.
8. ^ "New screening will protect babies from death and disability". screening.nhs.uk.
9. ^ "MSUD classifications".
10. ^ "Maple Syrup Urine Disease (MSUD)". Healthline. Retrieved 2016-11-10.
11. ^ Hallam P, Lilburn M, Lee PJ (2005). "A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD)". J. Inherit. Metab. Dis. 28 (5): 665–672. doi:10.1007/s10545-005-0061-6. PMID 16151896. S2CID 24718350.
12. ^ "Maple Syrup Urine Disease (MSUD): Facts & Information". Disabled World. Retrieved 2016-11-10.
13. ^ Jaworski MA, Severini A, Mansour G, Konrad HM, Slater J, Henning K, Schlaut J, Yoon JW, Pak CY, Maclaren N, et al. (1989). "Genetic conditions among Canadian Mennonites: evidence for a founder effect among the old country (Chortitza) Mennonites". Clin Invest Med. 12 (2): 127–141. PMID 2706837.
14. ^ Mary Kugler, R.N. "Maple Syrup Urine Disease". About.com Health.
15. ^ Puffenberger EG (2003). "Genetic heritage of Old Order Mennonites in southeastern Pennsylvania". Am J Med Genet C Semin Med Genet. 121 (1): 18–31. doi:10.1002/ajmg.c.20003. PMID 12888983. S2CID 25317649.
16. ^ "Maple Syrup Urine Disease (MSUD) - Jewish Genetic Disease". Retrieved 18 December 2015.
17. ^ "MSUD infographic - gene therapy". Retrieved 13 December 2019.
18. ^ Brunetti-Pierri, Nicola; Lanpher, Brendan; Erez, Ayelet; Ananieva, Elitsa A.; Islam, Mohammad; Marini, Juan C.; Sun, Qin; Yu, Chunli; Hegde, Madhuri; Li, Jun; Wynn, R. Max; Chuang, David T.; Hutson, Susan; Lee, Brendan (15 February 2011). "Phenylbutyrate therapy for maple syrup urine disease". Hum Mol Genet. 20 (4): 631–640. doi:10.1093/hmg/ddq507. PMC 3024040. PMID 21098507.
## External links[edit]
Classification
D
* ICD-10: E71.0
* ICD-9-CM: 270.3
* OMIM: 248600
* MeSH: D008375
* DiseasesDB: 7820
External resources
* MedlinePlus: 000373
* eMedicine: ped/1368
* Patient UK: Maple syrup urine disease
* GeneReviews: Maple Syrup Urine Disease
* Orphanet: 511
* Maple syrup urine disease at NLM Genetics Home Reference
* msud at NIH/UW GeneTests
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
Authority control
* GND: 4217419-3
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
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Maple syrup urine disease
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c0024776
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https://en.wikipedia.org/wiki/Maple_syrup_urine_disease
| 2021-01-18T18:51:19 |
{"gard": ["3228"], "mesh": ["D008375"], "umls": ["C0024776"], "orphanet": ["511"], "wikidata": ["Q402575"]}
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Types of dementia involving the frontal or temporal lobes
Parts of this article (those related to see PMID 27042904) need to be updated. Please update this article to reflect recent events or newly available information. (March 2018)
Frontotemporal dementia
Brain MRI of a female of 65 years with frontotemporal dementia. Cortical and white matter atrophy of the frontal lobes is clear in all images.
SpecialtyPsychiatry, neurology
Causesfrontotemporal lobar degeneration
Frontotemporal dementia (FTD), or frontotemporal neurocognitive disorder[1] encompasses several types of dementia involving the frontal and temporal lobes.[2] FTDs are broadly presented as behavioral or language disorders.[3] The three main subtypes or variant syndromes are a behavioral variant (bvFTD) previously known as Pick's disease,[4][5] and two variants of primary progressive aphasia – semantic variant (svPPA), and nonfluent variant (nfvPPA).[3][5] Two rare distinct subtypes of FTD are neuronal intermediate filament inclusion disease (NIFID), and basophilic inclusion body disease. Other related disorders include corticobasal syndrome and FTD with amyotrophic lateral sclerosis (ALS) FTD-ALS also called FTD-MND.[6]
Frontotemporal dementias are mostly early-onset syndromes that are linked to frontotemporal lobar degeneration (FTLD),[7] which is characterized by progressive neuronal loss predominantly involving the frontal or temporal lobes, and a typical loss of over 70% of spindle neurons, while other neuron types remain intact.[8]
FTD was first described by Arnold Pick in 1892 and was originally called Pick's disease, a term now reserved only for behavioral variant FTD which shows the presence of Pick bodies and Pick cells.[9][4][10] Second only to Alzheimer's disease (AD) in prevalence, FTD accounts for 20% of early-onset dementia cases.[11] Signs and symptoms typically manifest in late adulthood, more commonly between the ages of 45 and 65, approximately equally affecting men and women.[11]
Common signs and symptoms include significant changes in social and personal behavior, apathy, blunting of emotions, and deficits in both expressive and receptive language. Currently, there is no cure for FTD, but there are treatments that help alleviate symptoms.
## Contents
* 1 Signs and symptoms
* 2 Subtypes and related disorders
* 2.1 Behavioral variant frontotemporal dementia
* 2.2 Semantic dementia
* 2.3 Progressive nonfluent aphasia
* 3 Other characteristics
* 4 Genetics
* 5 Pathology
* 6 Diagnosis
* 6.1 Neuropsychological tests
* 7 Management
* 8 Prognosis
* 9 History
* 10 Notable cases
* 11 See also
* 12 References
* 13 Further reading
* 14 External links
## Signs and symptoms[edit]
Frontotemporal dementia (FTD) is an early-onset disorder that mostly occurs before the age of 65, but can begin earlier, and in 20%-25% of cases onset is later.[7][12] A gradual onset and progression of changes in behavior or language deficits are reported to have begun several years prior to presentation to a neurologist.[6]
FTD is traditionally difficult to diagnose due to the diverse nature of the associated symptoms. Signs and symptoms are classified into three groups based on the affected functions of the frontal and temporal lobes:[10] These are behavioural variant frontotemporal dementia, semantic dementia, and progressive nonfluent aphasia. An overlap between symptoms can occur as the disease progresses and spreads through the brain regions.[12]
## Subtypes and related disorders[edit]
The main subtypes of frontotemporal dementia are behavioral variant FTD, semantic dementia, progressive nonfluent aphasia, and FTD associated with amyotrophic lateral sclerosis. Two distinct rare subtypes are neuronal intermediate filament inclusion disease, and basophilic inclusion body disease. Related disorders are corticobasal syndrome, and progressive supranuclear palsy.[6]
### Behavioral variant frontotemporal dementia[edit]
Behavioral variant frontotemporal dementia (BvFTD) was previously known as Pick's disease, and is the most common of the FTD types.[4] BvFTD is diagnosed four times more than the PPA variants.[13] Behavior can change in BvFTD in either of two ways — it can change to being impulsive and disinhibited, acting in socially unacceptable ways; or it can change to being listless and apathetic.[14][15]
### Semantic dementia[edit]
Semantic dementia (SD) is characterized by the loss of semantic understanding, resulting in impaired word comprehension. However, speech remains fluent and grammatical.[15]
### Progressive nonfluent aphasia[edit]
Progressive nonfluent aphasia (PNFA) is characterized by progressive difficulties in speech production.[15]
## Other characteristics[edit]
In later stages of FTD, the clinical phenotypes may overlap.[15] People with FTD tend to struggle with binge eating and compulsive behaviors.[16] Binge eating habits are often associated with changes in food preferences (cravings for more sweets, carbohydrates), eating inedible objects and snatching food from others. Recent findings from structural MRI research have indicated that eating changes in FTD are associated with atrophy (wasting) in the right ventral insula, striatum, and orbitofrontal cortex.[16]
People with FTD show marked deficiencies in executive functioning and working memory.[17] Most become unable to perform skills that require complex planning or sequencing.[18] In addition to the characteristic cognitive dysfunction, a number of primitive reflexes known as frontal release signs are often able to be elicited. Usually the first of these frontal release signs to appear is the palmomental reflex which appears relatively early in the disease course whereas the palmar grasp reflex and rooting reflex appear late in the disease course.[citation needed]
In rare cases, FTD can occur in people with amyotrophic lateral sclerosis (ALS) a motor neuron disease. The prognosis for people with ALS is worse when combined with FTD, shortening survival by about a year.[19]
## Genetics[edit]
A higher proportion of fontotemporal dementias seem to have a familial component than more common neurodegenerative diseases like Alzheimer's disease. More and more mutations and genetic variants are being identified all the time, so the lists of genetic influences require consistent updating.
* Tau-positive frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is caused by mutations in the MAPT gene on chromosome 17 that encodes the tau protein.[20] It has been determined that there is a direct relationship between the type of tau mutation and the neuropathology of gene mutations. The mutations at the splice junction of exon 10 of tau lead to the selective deposition of the repetitive tau in neurons and glia. The pathological phenotype associated with mutations elsewhere in tau is less predictable with both typical neurofibrillary tangles (consisting of both 3 repeat and 4 repeat tau) and Pick bodies (consisting of 3 repeat tau) having been described. The presence of tau deposits within glia is also variable in families with mutations outside of exon 10. This disease is now informally designated FTDP-17T. FTD shows a linkage to the region of the tau locus on chromosome 17, but it is believed that there are two loci leading to FTD within megabases of each other on chromosome 17.[21]
* FTD caused by FTLD-TDP43 has numerous genetic causes. Some cases are due to mutations in the GRN gene, also located on chromosome 17. Others are caused by VCP mutations, although these patients present with a complex picture of multisystem proteinopathy that can include amyotrophic lateral sclerosis, inclusion body myopathy, Paget's disease of bone, and FTD. The most recent addition to the list is a hexanucleotide repeat expansion in intron 1 of C9ORF72.[22] Only one or two cases have been reported describing TARDBP (the TDP-43 gene) mutations in a clinically pure FTD (FTD without MND).[citation needed]
* Several other genes have been linked to this condition. These include CYLD, OPTN, SQSTM1 and TBK1.[23] These genes have been implicated in the autophagy pathway.
* No genetic causes of FUS pathology in FTD have yet been reported.[citation needed]
## Pathology[edit]
There are three main histological subtypes found at post-mortem: FTLD-tau, FTLD-TDP, and FTLD-FUS. In rare cases, patients with clinical FTD were found to have changes consistent with Alzheimer's disease on autopsy.[24] The most severe brain atrophy appears to be associated with behavioral variant FTD, and corticobasal degeneration.[25]
With regard to the genetic defects that have been found, repeat expansion in the C9orf72 gene is considered a major contribution to frontotemporal lobar degeneration, although defects in the GRN and MAPT genes are also associated with it.[26]
## Diagnosis[edit]
Structural MRI scans often reveal frontal lobe and/or anterior temporal lobe atrophy but in early cases the scan may seem normal. Atrophy can be either bilateral or asymmetric.[11] Registration of images at different points of time (e.g., one year apart) can show evidence of atrophy that otherwise (at individual time points) may be reported as normal. Many research groups have begun using techniques such as magnetic resonance spectroscopy, functional imaging and cortical thickness measurements in an attempt to offer an earlier diagnosis to the FTD patient. Fluorine-18-fluorodeoxyglucose positron emission tomography (FDG-PET) scans classically show frontal and/or anterior temporal hypometabolism, which helps differentiate the disease from Alzheimer's disease. The PET scan in Alzheimer's disease classically shows biparietal hypometabolism. Meta-analyses based on imaging methods have shown that frontotemporal dementia mainly affects a frontomedial network discussed in the context of social cognition or 'theory of mind'.[27] This is entirely in keeping with the notion that on the basis of cognitive neuropsychological evidence, the ventromedial prefrontal cortex is a major locus of dysfunction early on in the course of the behavioural variant of frontotemporal degeneration.[28] The language subtypes of frontotemporal lobar degeneration (semantic dementia and progressive nonfluent aphasia) can be regionally dissociated by imaging approaches in vivo.[29]
The confusion between Alzheimer's and FTD is justifiable due to the similarities between their initial symptoms. Patients do not have difficulty with movement and other motor tasks.[30] As FTD symptoms appear, it is difficult to differentiate between a diagnosis of Alzheimer's disease and FTD. There are distinct differences in the behavioral and emotional symptoms of the two dementias, notably, the blunting of emotions seen in FTD patients.[11] In the early stages of FTD, anxiety and depression are common, which may result in an ambiguous diagnosis. However, over time, these ambiguities fade away as this dementia progresses and defining symptoms of apathy, unique to FTD, start to appear.[citation needed]
Recent studies over several years have developed new criteria for the diagnosis of behavioral variant frontotemporal dementia (bvFTD).The confirmatory diagnosis is made by brain biopsy, but other tests can be used to help, such as MRI, EEG, CT, and physical examination and history.[31] Six distinct clinical features have been identified as symptoms of bvFTD.[32]
1. Disinhibition
2. Apathy/Inertia
3. Loss of Sympathy/Empathy
4. Perseverative/compulsive behaviors
5. Hyperorality
6. Dysexecutive neuropsychological profile
Of the six features, three must be present in a patient to diagnose one with possible bvFTD. Similar to standard FTD, the primary diagnosis stems from clinical trials that identify the associated symptoms, instead of imaging studies.[32] The above criteria are used to distinguish bvFTD from disorders such as Alzheimer's and other causes of dementia. In addition, the new criteria allow for a diagnostic hierarchy distinguished possible, probable, and definite bvFTD based on the number of symptoms present.[citation needed]
### Neuropsychological tests[edit]
The progression of the degeneration caused by bvFTD may follow a predictable course. The degeneration begins in the orbitofrontal cortex and medial aspects such as ventromedial cortex. In later stages, it gradually expands its area to the dorsolateral cortex and the temporal lobe.[33] Thus, the detection of dysfunction of the orbitofrontal cortex and ventromedial cortex is important in the detection of early stage bvFTD. As stated above, a behavioural change may occur before the appearance of any atrophy in the brain in the course of the disease. Because of that, image scanning such as MRI can be insensitive to the early degeneration and it is difficult to detect early-stage bvFTD.[citation needed]
In neuropsychology, there is an increasing interest in using neuropsychological tests such as the Iowa gambling task or Faux Pas Recognition test as an alternative to imaging for the diagnosis of bvFTD.[34] Both the Iowa gambling task and the Faux Pas test are known to be sensitive to dysfunction of the orbitofrontal cortex.[citation needed]
Faux Pas Recognition test is intended to measure one’s ability to detect faux pas types of social blunders (accidentally make a statement or an action that offends others). It is suggested that people with orbitofrontal cortex dysfunction show a tendency to make social blunders due to a deficit in self-monitoring.[35] Self-monitoring is the ability of individuals to evaluate their behaviour to make sure that their behaviour is appropriate in particular situations. The impairment in self-monitoring leads to a lack of social emotion signals. The social emotions such as embarrassment are important in the way that they signal the individual to adapt social behaviour in an appropriate manner to maintain relationships with others. Though patients with damage to the OFC retain intact knowledge of social norms, they fail to apply it to actual behaviour because they fail to generate social emotions that promote adaptive social behaviour.[35]
The other test, the Iowa gambling task, is a psychological test intended to simulate real-life decision making. The underlying concept of this test is the somatic marker hypothesis. This hypothesis argues that when people have to make complex uncertain decisions, they employ both cognitive and emotional processes to assess the values of the choices available to them. Each time a person makes a decision, both physiological signals and evoked emotion (somatic marker) are associated with their outcomes and it accumulates as experience. People tend to choose the choice which might produce the outcome reinforced with positive stimuli, thus it biases decision-making towards certain behaviours while avoiding others.[36] It is thought that somatic marker is processed in orbitofrontal cortex.[citation needed]
The symptoms observed in bvFTD are caused by dysfunction of the orbitofrontal cortex, thus these two neuropsychological tests might be useful in detecting the early stage bvFTD. However, as self-monitoring and somatic marker processes are so complex, it likely involves other brain regions. Therefore, neuropsychological tests are sensitive to the dysfunction of orbitofrontal cortex, yet not specific to it. The weakness of these tests is that they do not necessarily show dysfunction of the orbitofrontal cortex.[citation needed]
In order to solve this problem, some researchers combined neuropsychological tests which detect the dysfunction of orbitofrontal cortex into one so that it increases its specificity to the degeneration of the frontal lobe in order to detect the early-stage bvFTD. They invented the Executive and Social Cognition Battery which comprises five neuropsychological tests.[34]
* Iowa gambling task
* Faux Pas test
* Hotel task
* Mind in the Eyes
* Multiple Errands Task
The result has shown that this combined test is more sensitive in detecting the deficits in early bvFTD.[34]
## Management[edit]
Currently, there is no cure for FTD. Treatments are available to manage the behavioral symptoms. Disinhibition and compulsive behaviors can be controlled by selective serotonin reuptake inhibitors (SSRIs).[37][38] Although Alzheimer's and FTD share certain symptoms, they cannot be treated with the same pharmacological agents because the cholinergic systems are not affected in FTD.[11]
Because FTD often occurs in younger people (i.e. in their 40s or 50s), it can severely affect families. Patients often still have children living in the home.[citation needed]
## Prognosis[edit]
Symptoms of frontotemporal dementia progress at a rapid, steady rate. Patients suffering from the disease can survive for 2–20 years. Eventually patients will need 24-hour care for daily function.[39]
CSF leaks are a known cause of reversible frontotemporal dementia.[40]
## History[edit]
Frontotemporal dementia was first described by Pick in 1892.[41] In 1989, Snowden suggested the term “semantic dementia” to describe the patient with predominant left temporal atrophy and aphasia that Pick described. The first research criteria for FTD “Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups,” was developed in 1994. The clinical diagnostic criteria were revised in the late 1990s, when the FTD spectrum was divided into a behavioral variant, a nonfluent aphasia variant and a semantic dementia variant.[13] The most recent revision of the clinical research criteria was by International Behavioural Variant FTD Criteria Consortium (FTDC) in 2011.[42]
## Notable cases[edit]
Notable cases of bvFTD when mostly were referred to as Pick's disease.
* Don Cardwell (1935–2008), Major League Baseball pitcher[43]
* Jerry Corbetta (1947–2016), frontman, organist and keyboardist of American psychedelic rock band Sugarloaf[44]
* Ted Darling (1935–1996), Buffalo Sabres television announcer
* Robert W. Floyd (1936–2001), computer scientist[45]
* Lee Holloway (born 1981), co-founder of Cloudflare[46]
* Colleen Howe (1933–2009), sports agent and hockey team manager, known as "Mrs. Hockey"[47]
* Ralph Klein (1942–2013), former premier of Alberta, Canada
* Kevin Moore (1958–2013), English footballer[48]
* Ernie Moss (born 1949), English footballer[49]
* Nic Potter (1951–2013), British bassist for Van der Graaf Generator[50]
* Christina Ramberg (1946–1995), American painter associated with the Chicago Imagists[51]
* Pat Moran (1947-2011), British record producer, singer and Mellotron player with progressive rock band Spring
* David Rumelhart (1942–2011), American cognitive psychologist[citation needed]
* Colin Savage, father of footballer Robbie Savage[52]
* Sir Nicholas Wall (1945–2017), English judge[53]
* Mark Wirtz (1943-2020), pop musician, composer and producer[54]
* Kazi Nazrul Islam (1899-1976), notable Bengali poet and National Poet of Bangladesh[55]
## See also[edit]
* Alcoholic dementia
* Lewy body dementia
* Logopenic progressive aphasia
* Proteopathy
* Transportin 1
* Vascular dementia
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51. ^ "The Sexy, Proto-Feminist Art Of Christina Ramberg's Tragically Short Life". www.wbur.org.
52. ^ Matt Roper (2011-04-26). "Robbie Savage's tears for his dad - and the end of his football career". mirror.co.uk. Retrieved 2011-05-11.
53. ^ Gordon Rayner, "Sir Nicholas Wall, once Britain's top family law judge, commits suicide after dementia diagnosis", The Daily Telegraph, 23 February 2017.
54. ^ [1], ‘’The Daily Telegraph’’, 13 Aug 2020
55. ^ Farooq, Mohammad Omar. "Kazi Nazrul Islam: Illness and Treatment". nazrul.org. Archived from the original on 29 May 2015. Retrieved 26 March 2016.
## Further reading[edit]
* Liu, W; Miller, B. L.; Kramer, J. H.; Rankin, K.; Wyss-Coray, C.; Gearhart, R.; Phengrasamy, L.; Weiner, M.; Rosen, H. J. (1 March 2004). "Behavioral disorders in the frontal and temporal variants of frontotemporal dementia". Neurology. 5. 62 (5): 742–748. doi:10.1212/01.WNL.0000113729.77161.C9. PMC 2367136. PMID 15007124.
* Hodges, J.R (2 April 2003). "A study of stereotypic behaviours in Alzheimer's disease and frontal and temporal variant frontotemporal dementia". Neurol Neurosurg Psychiatry. 74 (10): 1398–1402. doi:10.1136/jnnp.74.10.1398. PMC 1757381. PMID 14570833.
* Pagon RA, et al. (1993). "GRN-Related Frontotemporal Dementia". GeneReviews. PMID 20301545.
* Pagon RA, et al. (1993). "MAPT-Related Disorders including Frontotemporal Dementia with Parkinsonism-17 (FTDP-17)". GeneReviews. PMID 20301678.
* Marilyn Reynolds. "'Til Death or Dementia Do us Part, a memoir". River Rock Books.
* Upson, Sandra (15 April 2020). "The Devastating Decline of a Brilliant Young Coder". Wired. Retrieved 17 September 2020.
## External links[edit]
* OMIM on Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis and Chromosome 9 Open Reading Frame 72; C9ORF72
Classification
D
* ICD-10: G31.0
* ICD-9-CM: 331.19
* OMIM: 600274 105550 614260
* MeSH: D003704
* DiseasesDB: 10034
External resources
* Patient UK: Frontotemporal dementia
* GeneReviews: MAPT-Related Disorders
* v
* t
* e
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* v
* t
* e
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* For more detailed coverage, see Template:Demyelinating diseases of CNS
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* For more detailed coverage, see Template:Epilepsy
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* For more detailed coverage, see Template:Cerebrovascular diseases
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* For more detailed coverage, see Template:Sleep
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* UMN only:
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* LMN only:
* Distal hereditary motor neuronopathies
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Frontotemporal dementia
|
c0338451
| 8,602 |
wikipedia
|
https://en.wikipedia.org/wiki/Frontotemporal_dementia
| 2021-01-18T18:32:44 |
{"gard": ["8436"], "mesh": ["D057180"], "umls": ["C0338451"], "icd-9": ["331.19"], "icd-10": ["G31.0"], "orphanet": ["282"], "wikidata": ["Q18592"]}
|
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Humero-radio-ulnar synostosis
|
None
| 8,603 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3266
| 2021-01-23T17:26:49 |
{"gard": ["2749"], "icd-10": ["Q74.0"], "synonyms": ["Humero-radio-ulnar fusion"]}
|
A number sign (#) is used with this entry because familial cold autoinflammatory syndrome-3 (FCAS3), also known as PLCG2-associated antibody deficiency and immune dysregulation (PLAID), is caused by heterozygous deletion within the PLCG2 gene (600220) on chromosome 16q23.
See also APLAID (614878), an allelic disorder with some overlapping features.
Description
Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012).
For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Clinical Features
Gandhi et al. (2009) reported 3 unrelated multigenerational families with atypical cold urticaria. Affected individuals developed pruritic erythema with urticaria and sometimes angioedema within 5 minutes after exposure to cold. Most patients had onset in the first 6 months of life, and all had lifelong duration of the symptoms, although most noted a subjective improvement of the severity of the symptoms after age 30 years. Evaporative cooling appeared to be the most significant trigger, as all patients reported symptoms after cold exposure. For example, a patient's tear at room temperature produced erythema along the line of the teardrop; skin submerged in warm water and then exposed to room temperature became pruritic and erythematous; and cutaneous testing showed that evaporation of water drops produced erythema and urticaria at the site of the drop. Outdoor air cold challenge resulted in erythema and isolated urticarial lesions over unprotected skin. Localized cutaneous reactions did not generalize, and most resolved within 30 minutes of rewarming. A questionnaire was administered to 2 families. A history of atopy was reported in 84% of patients in 1 family, and in 14% in a second family. Triggers included cold atmosphere (100%), aquatic activities (92% and 100% of patients in the 2 families, respectively), handling cold objects (54% and 71%, respectively), and ingestion of cold foods or beverages (69% and 100%, respectively). Ingestion of cold foods or beverages caused oropharyngeal swelling in 29% and 43% of patients from each family, respectively. Other complications included syncope or near syncope (46% and 86%, respectively), usually related to emergence from water. All patients had pruritus and erythema, but angioedema occurred in less than 50% of patients. However, all affected individuals had negative cold stimulation time test (CSTT) results, with erythema but no wheal formation after direct skin contact with ice followed by a 5-minute rewarming period at room temperature. Gandhi et al. (2009) suggested that the phenomenon in these families occurred when a cooling threshold is reached that triggers the cutaneous symptoms, and that this threshold is likely warmer than that of the ice-cube test. Skin biopsy specimens showed a mast cell infiltrate with the appearance of degranulation after cold challenge. The disorder could be distinguished from familial cold autoinflammatory syndrome (FCAS1; 120100) by the lack of severe systemic involvement and from acquired cold urticaria by the negative CSTT test.
Ombrello et al. (2012) reported 3 unrelated families with FCAS3, including 1 family reported by Gandhi et al. (2009). All patients had negative results on skin testing with ice-cube and cold-water immersion, but had positive results on skin testing for evaporative cooling and generalized exposure to cold air. In addition, 26 of 27 patients tested showed immunologic defects, including antibody deficiency (75%), recurrent infections (56%), and autoantibodies or autoimmune disease (56%). Seven individuals had cutaneous nodular granulomatous disease: 4 had persistent granulomatous skin disease and 3 had resolution of the symptoms in infancy. Laboratory studies showed decreased serum IgA and IgM, decreased circulating B cells, decreased memory B cells, and decreased natural killer cells. Most had increased IgE.
Inheritance
The transmission pattern of FCAS3 in the families reported by Gandhi et al. (2009) was consistent with autosomal dominant inheritance.
Molecular Genetics
In affected members of 3 unrelated families with FCAS3, Ombrello et al. (2012) identified 3 different heterozygous intragenic deletions in the PLCG2 gene (600220.0001-600220.0003). The mutations were found by linkage analysis followed by candidate gene sequencing. Five of the 6 deletion breakpoints occurred within repetitive elements. Each of the 3 deletions involved the C-terminal Src-homology-2 (cSH2) domain, which is autoinhibitory and normally prevents constitutive enzymatic function. Transfection of COS-7 cells with PLCG2 constructs lacking the full domain, a deletion of exon 19, or a deletion of exons 20-22 resulted in increased basal and Rac-activated phospholipase activity compared to wildtype. Despite this gain of function, distal signaling and PLCG2-dependent functions were decreased in patient immune cells. The paradoxical loss of downstream function may have resulted from chronic signaling. Patient B cells and natural killer cells both showed defective calcium flux in response to receptor activation on their cell surfaces. However, patient B cells showed increased calcium levels and increased activation with decreasing temperature, whereas control cells did not. Transfection of mutant PLCG2 into mast cells led to spontaneous degranulation at 20 degrees Celsius, which was not seen in controls. The findings indicated that defective receptor signaling in mutant B cells was temperature-dependent and caused abnormal activation and class-switching, resulting in antibody deficiency and impaired central tolerance. The increased activation of mast cells at subphysiologic temperatures was responsible for the cold urticaria. Ombrello et al. (2012) proposed the designation 'PLCG2-associated antibody deficiency and immune dysregulation (PLAID)' to refer to this disorder.
INHERITANCE \- Autosomal dominant HEAD & NECK Nose \- Allergic rhinitis RESPIRATORY Airways \- Asthma (in some patients) SKIN, NAILS, & HAIR Skin \- Urticaria, cold-induced \- Erythema, cold-induced \- Pruritis, cold-induced \- Increased mast cells \- Mast cell degranulation \- Granulomatous dermatitis (in some patients) IMMUNOLOGY \- Recurrent infections \- Decreased serum IgA \- Decreased serum IgM \- Increased serum IgE \- Decreased circulating B cells \- Defective B cell class-switching \- Decreased circulating NK cells \- Autoimmune disease (in some patients) \- Positive antinuclear autoantibodies \- Vitiligo \- Hashimoto's thyroiditis \- Food allergies (in some patients) MISCELLANEOUS \- Onset in first 6 months of life \- Lifelong occurrence \- Symptoms may decrease after age 30 years \- Cutaneous symptoms induced by cold exposure or cooling MOLECULAR BASIS \- Caused by mutation in the phospholipase C, gamma-2 gene (PLCG2, 600220.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
|
c3280914
| 8,604 |
omim
|
https://www.omim.org/entry/614468
| 2019-09-22T15:55:09 |
{"doid": ["0090064"], "omim": ["614468"], "orphanet": ["300359"], "synonyms": ["FAMILIAL ATYPICAL COLD URTICARIA", "Familial atypical cold urticaria", "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "PLAID", "Familial cold urticaria with common variable immunodeficiency", "Alternative titles", "FACU"]}
|
Subtype of palinopsia
Illusory palinopsia
SpecialtyOphthalmology
Illusory palinopsia is a subtype of palinopsia, a visual disturbance defined as the persistence or recurrence of a visual image after the stimulus has been removed.[1] Palinopsia is a broad term describing a heterogeneous group of symptoms, which is divided into hallucinatory palinopsia and illusory palinopsia.[2] Illusory palinopsia is likely due to sustained awareness of a stimulus and is similar to a visual illusion: the distorted perception of a real external stimulus.
Illusory palinopsia is caused by migraines,[3] hallucinogen persisting perception disorder (HPPD),[4] prescription drugs, and head trauma,[5] but is also sometimes idiopathic.[6] Illusory palinopsia consists of afterimages that are short-lived or unformed, occur at the same location in the visual field as the original stimulus, and are often exposed or exacerbated based on environmental parameters such as stimulus intensity, background contrast, fixation, and movement.[2] Illusory palinopsia symptoms occur continuously or predictably, based on environmental conditions. The term is from Greek: palin for "again" and opsia for "seeing".
## Contents
* 1 Signs and symptoms
* 1.1 Prolonged indistinct afterimage
* 1.2 Light streaking
* 1.3 Visual trailing
* 1.4 Variant image perseveration
* 2 Cause
* 3 Pathophysiology
* 3.1 Palinopsia in migraineurs
* 4 Diagnosis
* 5 Treatment
* 6 References
## Signs and symptoms[edit]
Illusory palinopsia is often worse with high stimulus intensity and contrast ratio in a dark adapted state. Multiple types of illusory palinopsia often co-exist in a patient and occur with other diffuse, persistent illusory symptoms such as halos around objects, dysmetropsia (micropsia, macropsia, pelopsia, or teleopsia), Alice in Wonderland Syndrome, visual snow, and oscillopsia. Illusory palinopsia consists of the following four symptom categories.
### Prolonged indistinct afterimage[edit]
Prolonged indistinct afterimages are unformed and occur at the same location in the visual field as the original stimulus. Stimulus intensity, contrast, and fixation length affects the generation and severity of these perseverated images. For example, after seeing a bright light such as a car headlight or a camera flash, a persistent afterimage remains in the visual field for several minutes.[5] Patients often report photophobia, which can restrict their ability to perform outdoor activity. The prolonged image or light is typically isochromatic (positive afterimage) to the original stimulus, but can fade to different colors over time.[7] Afterimages from lights tend to last longer than the indistinct afterimages from other brightly-colored objects. Palinoptic prolonged light afterimages of the complementary color are differentiated from physiological afterimages based on afterimage intensity and duration.[2][8]
### Light streaking[edit]
Light streaking describes a comet-like tail which is seen due to motion between a person or a light.[4] The streaking usually persists for several seconds before fading and often occurs with bright lights on a dark background. Patients commonly report of difficulty with night driving since the headlights of oncoming cars cause multiple streaks which obscure vision.[5]
### Visual trailing[edit]
Visual trailing describes an object in motion leaving frozen copies in its wake.[9][10] These motion-induced afterimages may be discontinuous such as in a film reel or may be blurred together such as in a long-exposure photograph. If discontinuous, the patient also usually reports akinetopsia. The perseverated images last a few seconds and are usually identical in color and shape to the original stimulus. Most cases describe visual trails during movement of an object, although there are also reports from the movement of the observer's head or eyes.[6]
### Variant image perseveration[edit]
There are a few cases of palinopsia with many of the same features as hallucinatory palinopsia (formed image perseveration) but with some important differences. The formed perseverated image may only last a couple seconds[11] or may be black or translucent.[12] These variants usually lack the realistic clarity of hallucinatory palinopsia, and the generation of the palinoptic images is affected by fixation time, motion, stimulus intensity, or contrast. These variants probably represent an overlap in hallucinatory and illusory palinopsia but are included in illusory palinopsia since they often co-exist with the other illusory symptoms.
## Cause[edit]
Of the published cases of palinopsia that are idiopathic or attributed to migraines, HPPD, prescription drugs, or head trauma, 94% described illusory palinopsia.[2] Trazodone,[9] nefazodone,[13] mirtazapine,[14] topiramate,[15] clomiphene,[16] oral contraceptives, and risperidone[17] have been reported to cause illusory palinopsia. Clomiphene and oral contraceptives are the only prescription drugs reported to cause permanent symptoms.[16] HPPD is most common after LSD ingestion, but can occur after any hallucinogen use. HPPD is commonly described in psychiatric literature and illusory palinopsia symptoms are sometimes not defined as palinopsia. It is not clear if there is a relationship between HPPD and the quantity and strength of hallucinogen doses taken.[4][18]
## Pathophysiology[edit]
Illusory palinopsia is a dysfunction in visual perception, presumably related to diffuse neuronal excitability alterations in the anterior and posterior visual pathways.[19] Because of the drugs that cause illusory palinopsia, 5-HT2a receptor excitotoxicity or a disruption of GABAnergic transmission have been proposed as possible mechanisms. However, the neuropharmacology of the visual system is probably too complex to pinpoint the visual disturbances to a single neurotransmitter or neurotransmitter receptor. The generation of illusory palinopsia is often dependent on ambient light or motion, and the symptoms could be a pathological exaggeration of normal light perception and motion perception mechanisms.[1][2] Prolonged indistinct afterimages are symptomatically similar to physiological afterimages, and light streaking and visual trailing are symptomatically similar to motion blur when viewing fast-moving objects.
Light and motion perception are dynamic operations involving processing and feedback from structures throughout the central nervous system. A patient frequently has multiple types of diffuse, persistent illusory symptoms which represent dysfunctions in both light and motion perception.[3][5] Light and motion are processed via different pathways, which suggests that there are diffuse or global excitability alterations in the visual pathway. Faulty neural adaptation and feedback between the anterior and posterior visual pathways could cause persistent excitability changes. Movement-related palinopsia could be due to inappropriate or incomplete activation of the motion suppression mechanisms (visual masking/backward masking and corollary discharges) related to visual stability during eye or body movements, which are present in saccadic suppression, blinking, smooth pursuit, etc.[2][20][21][22]
### Palinopsia in migraineurs[edit]
Illusory palinopsia may occur during a migraine aura, as do other diffuse illusory symptoms such as halos around objects, visual snow, dysmetropsia, and oscillopsia. In a rare migraine subtype known as persistent visual aura without infarction, illusory palinopsia symptoms (prolonged indistinct afterimages, light streaking, and visual trailing) persist after the migraine has abated.[23][24] Alternatively, up to 10% of all migraineurs report of formed afterimages that only last a couple seconds and do not occur with other illusory symptoms. These momentary afterimages appear at a different location in the visual field than the original stimulus, occur a few times per month, and are affected by external light and motion. (variant image perseveration).[11] Migraineurs with these momentary afterimages report significantly fewer migraine headaches than migraineurs without these afterimages (4.3 vs. 14.4 attacks/year).[11] These afterimages probably represent an overlap in hallucinatory and illusory palinopsia. Studying these momentary formed afterimages, in relation to alterations in cortical excitability, could advance our understanding of migraine pathogenesis and mechanisms associated with encoding visual memory.
## Diagnosis[edit]
Palinopsia necessitates a full ophthalmologic and neurologic history and physical exam. There are no clear guidelines on the work-up for illusory palinopsia, but it is not unreasonable to order automated visual field testing and neuroimaging since migraine aura can sometimes mimic seizures or cortical lesions.[25] However, in a young patient without risk factors or other worrisome symptoms or signs (vasculopathy, history of cancer, etc.), neuroimaging for illusory palinopsia is low-yield but may grant the patient peace of mind.[2]
The physical exam and work-up are usually non-contributory in illusory palinopsia. Diagnosing the etiology of illusory palinopsia is often based on the clinical history. Palinopsia is attributed to a prescription drug if symptoms begin after drug initiation or dose increase. Palinopsia is attributed to head trauma if symptoms begin shortly after the incident. Continuous illusory palinopsia in a migraineur is usually from persistent visual aura. HPPD can occur any time after hallucinogen ingestion and is a diagnosis of exclusion in patients with previous hallucinogen use. Migraines and HPPD are probably the most common causes of palinopsia. Idiopathic palinopsia may be analogous to the cerebral state in persistent visual aura with non-migraine headache or persistent visual aura without headache.
Due to the subjective nature of the symptoms and the lack of organic findings, clinicians may be dismissive of illusory palinopsia, sometimes causing the patient distress. There is considerable evidence in the literature confirming the symptom legitimacy, so validating the patient’s symptoms can help ease anxiety. Unidirectional visual trails or illusory symptoms confined to part of a visual field suggest cortical pathology and necessitate further work-up.[26][27][28]
## Treatment[edit]
There is limited data on treating the visual disturbances associated with HPPD, persistent visual aura, or post-head trauma visual disturbances, and pharmaceutical treatment is empirically-based. It is not clear if the etiology or type of illusory symptom influences treatment efficacy. Since the symptoms are usually benign, treatment is based on the patient’s zeal and willingness to try many different drugs. There are cases which report successful treatment with clonidine, clonazepam, lamotrigine, nimodipine, topiramate, verapamil, divalproex sodium, gabapentin, furosemide, and acetazolamide, as these drugs have mechanisms that decrease neuronal excitability. However, other patients report treatment failure from the same drugs.[23][24] Based on the available evidence and side-effect profile, clonidine might be an attractive treatment option.[2] Many patients report improvement from sunglasses. FL-41 tinted lenses may provide additional relief, as they have shown some efficacy in providing relief to visually-sensitive migraineurs.[29]
## References[edit]
1. ^ a b Bender, MB; Feldman, M; Sobin, AJ (Jun 1968). "Palinopsia". Brain : A Journal of Neurology. 91 (2): 321–38. doi:10.1093/brain/91.2.321. PMID 5721933.
2. ^ a b c d e f g h Gersztenkorn, D; Lee, AG (Jul 2, 2014). "Palinopsia revamped: A systematic review of the literature". Survey of Ophthalmology. 60 (1): 1–35. doi:10.1016/j.survophthal.2014.06.003. PMID 25113609.
3. ^ a b Simpson, JC; Goadsby, PJ; Prabhakar, P (Nov 2013). "Positive persistent visual symptoms (visual snow) presenting as a migraine variant in a 12-year-old girl". Pediatric Neurology. 49 (5): 361–3. doi:10.1016/j.pediatrneurol.2013.07.005. PMID 23968568.
4. ^ a b c Levi, L; Miller, NR (Jun 1990). "Visual illusions associated with previous drug abuse". Journal of Clinical Neuro-ophthalmology. 10 (2): 103–10. PMID 2141849.
5. ^ a b c d Abert, B; Ilsen, PF (Aug 2010). "Palinopsia". Optometry (St. Louis, Mo.). 81 (8): 394–404. doi:10.1016/j.optm.2009.12.010. PMID 20655497.
6. ^ a b Pomeranz, HD; Lessell, S (Feb 22, 2000). "Palinopsia and polyopia in the absence of drugs or cerebral disease". Neurology. 54 (4): 855–9. doi:10.1212/wnl.54.4.855. PMID 10690976.
7. ^ Sunness, JS (Oct 2004). "Persistent afterimages (palinopsia) and photophobia in a patient with a history of LSD use". Retina (Philadelphia, Pa.). 24 (5): 805. doi:10.1097/00006982-200410000-00022. PMID 15492641.
8. ^ Kawasaki, A; Purvin, V (Jan 1996). "Persistent palinopsia following ingestion of lysergic acid diethylamide (LSD)". Archives of Ophthalmology. 114 (1): 47–50. doi:10.1001/archopht.1996.01100130045007. PMID 8540850.
9. ^ a b Hughes, MS; Lessell, S (Mar 1990). "Trazodone-induced palinopsia". Archives of Ophthalmology. 108 (3): 399–400. doi:10.1001/archopht.1990.01070050097040. PMID 2310343.
10. ^ Evans, RW (May 2006). "Reversible palinopsia and the Alice in Wonderland syndrome associated with topiramate use in migraineurs". Headache. 46 (5): 815–8. doi:10.1111/j.1526-4610.2006.00458_1.x. PMID 16643588.
11. ^ a b c Belcastro, V; Cupini, LM; Corbelli, I; Pieroni, A; D'Amore, C; Caproni, S; Gorgone, G; Ferlazzo, E; Di Palma, F; Sarchielli, P; Calabresi, P (Jul 2011). "Palinopsia in patients with migraine: a case-control study". Cephalalgia: An International Journal of Headache. 31 (9): 999–1004. doi:10.1177/0333102411410083. PMID 21628437.
12. ^ Jacome, DE (Apr 1985). "Palinopsia and bitemporal visual extinction on fixation". Annals of Ophthalmology. 17 (4): 251–2, 257. PMID 4004004.
13. ^ Hundal, KS; Chen, S; Moore, W; Tranos, P; Joshi, N (Nov 2003). "Dyskinetopsia during light adaptation associated with nefazodone treatment". Eye (London, England). 17 (9): 1040–2. doi:10.1038/sj.eye.6700551. PMID 14704758.
14. ^ Ihde-Scholl, T; Jefferson, JW (May 2001). "Mitrazapine-associated palinopsia". The Journal of Clinical Psychiatry. 62 (5): 373. doi:10.4088/jcp.v62n0512a. PMID 11411821.
15. ^ Fontenelle, LF (Spring 2008). "Topiramate-induced palinopsia". The Journal of Neuropsychiatry and Clinical Neurosciences. 20 (2): 249–50. doi:10.1176/jnp.2008.20.2.249. PMID 18451209.
16. ^ a b >Purvin, VA (Apr 1995). "Visual disturbance secondary to clomiphene citrate". Archives of Ophthalmology. 113 (4): 482–4. doi:10.1001/archopht.1995.01100040102034. PMID 7710399.
17. ^ Lauterbach, EC; Abdelhamid, A; Annandale, JB (Jan 2000). "Posthallucinogen-like visual illusions (palinopsia) with risperidone in a patient without previous hallucinogen exposure: possible relation to serotonin 5HT2a receptor blockade". Pharmacopsychiatry. 33 (1): 38–41. doi:10.1055/s-2000-8452. PMID 10721882.
18. ^ Halpern, JH; Pope HG, Jr (Mar 1, 2003). "Hallucinogen persisting perception disorder: what do we know after 50 years?". Drug and Alcohol Dependence. 69 (2): 109–19. doi:10.1016/S0376-8716(02)00306-X. PMID 12609692.
19. ^ Chen, WT; Lin, YY; Fuh, JL; Hämäläinen, MS; Ko, YC; Wang, SJ (Aug 2011). "Sustained visual cortex hyperexcitability in migraine with persistent visual aura". Brain : A Journal of Neurology. 134 (Pt 8): 2387–95. doi:10.1093/brain/awr157. PMID 21729907.
20. ^ Wurtz, RH (Sep 2008). "Neuronal mechanisms of visual stability". Vision Research. 48 (20): 2070–89. doi:10.1016/j.visres.2008.03.021. PMC 2556215. PMID 18513781.
21. ^ Furman, M; Gur, M (Jan 2012). "And yet it moves: perceptual illusions and neural mechanisms of pursuit compensation during smooth pursuit eye movements". Neuroscience and Biobehavioral Reviews. 36 (1): 143–51. doi:10.1016/j.neubiorev.2011.05.005. PMID 21616092.
22. ^ Burr, D (Jul 26, 2005). "Vision: in the blink of an eye". Current Biology. 15 (14): R554-6. doi:10.1016/j.cub.2005.07.007. PMID 16051164.
23. ^ a b Evans, RW; Aurora, SK (Mar 2012). "Migraine with persistent visual aura". Headache. 52 (3): 494–501. doi:10.1111/j.1526-4610.2012.02103.x. PMID 22404709.
24. ^ a b Wang, YF; Fuh, JL; Chen, WT; Wang, SJ (Dec 2008). "The visual aura rating scale as an outcome predictor for persistent visual aura without infarction". Cephalalgia: An International Journal of Headache. 28 (12): 1298–304. doi:10.1111/j.1468-2982.2008.01679.x. PMID 18727635.
25. ^ Shams, PN; Plant, GT (Mar–Apr 2011). "Migraine-like visual aura due to focal cerebral lesions: case series and review". Survey of Ophthalmology. 56 (2): 135–61. doi:10.1016/j.survophthal.2010.07.005. PMID 21335146.
26. ^ Van der Stigchel, S; Nijboer, TC; Bergsma, DP; Barton, JJ; Paffen, CL (May 15, 2012). "Measuring palinopsia: characteristics of a persevering visual sensation from cerebral pathology". Journal of the Neurological Sciences. 316 (1–2): 184–8. doi:10.1016/j.jns.2012.01.006. PMID 22285276.
27. ^ Gottlieb, D (Dec 1992). "The unidirectionality of cerebral polyopia". Journal of Clinical Neuro-ophthalmology. 12 (4): 257–62. doi:10.3109/01658109209058148. PMID 1287051.
28. ^ Tsai, PH; Mendez, MF (Sep 1, 2009). "Akinetopsia in the posterior cortical variant of Alzheimer disease". Neurology. 73 (9): 731–2. doi:10.1212/WNL.0b013e3181b59c07. PMID 19720982.
29. ^ Wilkins, AJ; Patel, R; Adjamian, P; Evans, BJ (Nov 2002). "Tinted spectacles and visually sensitive migraine". Cephalalgia: An International Journal of Headache. 22 (9): 711–9. doi:10.1046/j.1468-2982.2002.00362.x. PMID 12421156.
* v
* t
* e
Optical illusions (list)
Illusions
* Afterimage
* Ambiguous image
* Ames room
* Barberpole
* Bezold
* Café wall
* Checker shadow
* Chubb
* Cornsweet
* Delboeuf
* Ebbinghaus
* Ehrenstein
* Flash lag
* Fraser spiral
* Gravity hill
* Grid
* Hering
* Impossible trident
* Jastrow
* Lilac chaser
* Mach bands
* McCollough
* Müller-Lyer
* Necker cube
* Orbison
* Penrose stairs
* Penrose triangle
* Peripheral drift
* Poggendorff
* Ponzo
* Rubin vase
* Sander
* Schroeder stairs
* Shepard tables
* Spinning Dancer
* Ternus
* Vertical–horizontal
* White's
* Wundt
* Zöllner
Popular culture
* Op art
* Trompe-l'œil
* Spectropia (1864 book)
* Ascending and Descending (1960 drawing)
* Waterfall (1961 drawing)
* The dress (2015 photograph)
Related
* Accidental viewpoint
* Auditory illusions
* Tactile illusions
* Temporal illusion
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Illusory palinopsia
|
None
| 8,605 |
wikipedia
|
https://en.wikipedia.org/wiki/Illusory_palinopsia
| 2021-01-18T18:50:03 |
{"wikidata": ["Q17747032"]}
|
A number sign (#) is used with this entry because of evidence that immunodeficiency 15A is caused by heterozygous missense mutation in the IKBKB gene (603258) on chromosome 8p11.
Homozygous mutation in IKBKB results in the more severe immunodeficiency IMD15B (615592).
Description
Immunodeficiency 15A is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.
Clinical Features
Cardinez et al. (2018) reported 2 families in which the probands presented with immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects. The first proband was an adult woman who presented with recurrent respiratory tract infections, severe and atypical eczema, dental abnormalities consistent with ectodermal dysplasia (without conical teeth), hidradenitis suppurativa and subcutaneous abscesses, mucocutaneous candidiasis, and premature cataracts. The 2 parents of the woman were alive and had no evidence of immune deficiency or dysregulation. She had 2 children, aged 2 years and 5 years, who both suffered from recurrent otitis media and sinusitis but had no inflammation or ectodermal dysplasia. Initial cellular analysis of peripheral blood mononuclear cells isolated from the proband and both children revealed lymphopenias. One child and the proband exhibited T cell deficiency, and the other child exhibited a reduction in total lymphocytes for age. Lymphopenia was a fixed phenotype in the proband, with no significant change over at least 7 years of observation. In addition, she had mild hypogammaglobulinemia and defective specific antibody responses to pneumococcal vaccination. The second proband was a 33-year-old male from an unrelated and geographically remote family who had a history of recurrent respiratory infections, otitis media, and tonsillitis since childhood. He was noted to have hypogammaglobulinemia at age 18 years and subcutaneous abscesses at age 28 years. Further investigations revealed bronchiectasis and hepatosplenomegaly. Probands of both kindreds exhibited deficiencies of CD4+ and CD8+ T cells, with a significant reduction in naive T cells in both compartments. Both had a significant increase in circulating follicular helper T cells as well as a significant deficiency of memory B cells. Transitional B cells were numerically normal but were universally CD21(hi)/CD10+. There was increased activation of naive CD4+ T cells from one proband. There was also a significant increase in circulating regulatory T cells in the first, but not the second, proband.
Molecular Genetics
In probands from 2 unrelated families with an immune deficiency with combined T and B cell deficiency as well as immune activation of both CD4+ and CD8+ T cells (IMD15A), Cardinez et al. (2018) identified the same de novo missense mutation in the IKBKB gene (V203I; 603258.0003). This mutation changes the highly conserved valine at position 203, which is conserved to at least Drosophila melanogaster and is located within the active site of IKK2 on the second lobe of the kinase domain, which phosphorylates the N-terminal region of IKB-alpha (NFKBIA; 164008) and leads to activation of NF-kappa-B (see 164011). The mutant protein was predicted to assume an unstable conformation, while maintaining its kinase activity, but disrupting the tetrameric interaction of IKK2.
Animal Model
Cardinez et al. (2018) engineered a G-to-A transition in codon 203 of mouse Ikbkb using CRISPER/CAS9. The mutant allele was propagated, and heterozygous and homozygous mice were born at expected Mendelian ratios. Analysis of isolated splenocytes revealed constitutive IKBA phosphorylation, with evidence of a gene dose effect: phosphorylation was greater in cells with homozygous mutation compared with heterozygotes, both at baseline and for at least 120 minutes after stimulation. This result, taken together with transfection results, and analysis of cells from the proband, confirmed that the V203I mutation confers gain of function on IKK2. These findings were consistent with previously reported results for the same mutation identified as a somatic mutation in patients with central nervous system B cell lymphoma, where gain of function was demonstrated biochemically (Fukumura et al., 2016).
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Otitis media Mouth \- Candidiasis RESPIRATORY \- Respiratory infections Nasopharynx \- Sinusitis IMMUNOLOGY \- Recurrent infections, non-lethal \- Recurrent fungal infections \- Hypogammaglobulinemia: Decreased CD4+ and CD8+ T cells \- Decreased number of B cells \- Decreased memory B cells \- Increased or normal T reg cells \- Increased naive T cell activation MISCELLANEOUS \- Onset in childhood \- Based on a report of 2 families (last curated November 2018) MOLECULAR BASIS \- Caused by mutation in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, beta gene (IKBKB, 603258.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
IMMUNODEFICIENCY 15A
|
c3810043
| 8,606 |
omim
|
https://www.omim.org/entry/618204
| 2019-09-22T15:43:05 |
{"omim": ["615592", "618204"], "orphanet": ["397787"], "synonyms": ["SCID due to IKK2 deficiency"]}
|
Hunter et al. (1976) concluded that humeroradial synostosis occurs as either a dominant or a recessive (see 236400) malformation and also as part of the SC phocomelia syndrome (269000). Families with dominant inheritance were reported by Romanus (1933), Fuhrmann et al. (1966) and Mouchet and St. Pierre (1931).
Lenz and Rehmann (1976) reported a remarkable kindred in which 12 of the 27 persons in 4 generations had bilateral humeroradial synostosis and the other 15 had ventral luxation of the radius. In addition, various degrees of malformations and aplasia of the carpal, tarsal and interphalangeal joints as well as shortening of the proximal phalanx of the thumbs were observed. The authors considered this to be a distinct syndrome.
Humeral 'bifurcation' due to humeroradial synostosis, and amelia (see 601360) are both very rare limb anomalies. Marles et al. (2003) described a Canadian Aboriginal boy with both of these limb deficiencies. The family history was unremarkable, but the proband had been exposed prenatally to cocaine at the time of limb development. His exposure was thought to be the likely cause.
Limbs \- Humeroradial synostosis Inheritance \- Autosomal dominant ▲ Close
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*[LSS]: lumbar spinal stenosis
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*[E2]: estradiol
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*[7d avg]: Average of the last 7 days
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*[et al.]: et alia (and others)
*[a.k.a.]: also known as
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*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
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*[lit.]: literal translation
|
HUMERORADIAL SYNOSTOSIS
|
c2930865
| 8,607 |
omim
|
https://www.omim.org/entry/143050
| 2019-09-22T16:40:08 |
{"doid": ["0060467"], "mesh": ["C535284"], "omim": ["236400", "143050"], "orphanet": ["3265"], "synonyms": ["Humero-radial fusion"]}
|
Diverse collection of blood-related cancers that involve ineffective production of certain blood cells
Myelodysplastic syndrome
Other namesPreleukemia, myelodysplasia[1][2]
Blood smear from a person with myelodysplastic syndrome. A hypogranular neutrophil with a pseudo-Pelger-Huet nucleus is shown. There are also abnormally shaped red blood cells, in part related to removal of the spleen.
SpecialtyHaematology, oncology
SymptomsNone, feeling tired, shortness of breath, easy bleeding, frequent infections[3]
Usual onset~ 70 years old[4]
Risk factorsPrevious chemotherapy, radiation therapy, certain chemicals such as tobacco smoke, pesticides, and benzene, exposure to mercury or lead[3]
Diagnostic methodBlood test, bone marrow biopsy[3]
TreatmentSupportive care, medications, stem cell transplantation[3]
MedicationLenalidomide, antithymocyte globulin, azacitidine[3]
PrognosisTypical survival time 2.5 years[3]
A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, so do not become healthy blood cells.[3] Early on, no symptoms typically are seen.[3] Later, symptoms may include feeling tired, shortness of breath, bleeding disorders, anemia, or frequent infections.[3] Some types may develop into acute myeloid leukemia.[3]
Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead.[3] Problems with blood cell formation result in some combination of low red blood cell, platelet, and white blood cell counts.[3] Some types have an increase in immature blood cells, called blasts, in the bone marrow or blood.[3] The types of MDS are based on specific changes in the blood cells and bone marrow.[3]
Treatments may include supportive care, drug therapy, and hematopoietic stem cell transplantation.[3] Supportive care may include blood transfusions, medications to increase the making of red blood cells, and antibiotics.[3] Drug therapy may include the medications lenalidomide, antithymocyte globulin, and azacitidine.[3] Certain people can be cured with chemotherapy followed by a stem-cell transplant from a donor.[3]
About seven per 100,000 people are affected with about four per 100,000 people newly acquiring the condition each year.[4] The typical age of onset is 70 years.[4] The outlook depends on the type of cells affected, the number of blasts in the bone marrow or blood, and the changes present in the chromosomes of the affected cells.[3] The typical survival time following diagnosis is 2.5 years.[4] The conditions were first recognized in the early 1900s.[5] The current name came into use in 1976.[5]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 3.1 Genetics
* 3.2 5q- syndrome
* 3.3 Splicing factor mutations
* 3.4 IDH1 and IDH2 mutations
* 3.5 GATA2 deficiency
* 3.6 Transient myeloproliferative disease
* 4 Diagnosis
* 4.1 Differential diagnosis
* 4.2 Classification
* 4.2.1 French-American-British (FAB) classification
* 4.2.2 World Health Organization
* 4.2.3 Myelodysplastic syndrome unclassified
* 5 Management
* 5.1 Iron levels
* 6 Prognosis
* 6.1 Genetic markers
* 7 Epidemiology
* 8 History
* 9 Notable cases
* 10 See also
* 11 References
* 12 External links
## Signs and symptoms[edit]
Enlarged spleen due to myelodysplastic syndrome; CT scan coronal section, spleen in red, left kidney in green
Signs and symptoms are nonspecific and generally related to the blood cytopenias:
* Anemia (low RBC count or reduced hemoglobin) – chronic tiredness, shortness of breath, chilled sensation, sometimes chest pain
* Neutropenia (low neutrophil count) – increased susceptibility to infection
* Thrombocytopenia (low platelet count) – increased susceptibility to bleeding and ecchymosis (bruising), as well as subcutaneous hemorrhaging resulting in purpura or petechiae[6]
Many individuals are asymptomatic, and blood cytopenia or other problems are identified as a part of a routine blood count:[citation needed]
* Neutropenia, anemia, and thrombocytopenia
* Splenomegaly or rarely hepatomegaly
* Abnormal granules in cells, abnormal nuclear shape and size
* Chromosome abnormality, including chromosomal translocations and abnormal chromosome number
Although some risk exists for developing acute myelogenous leukemia, about 50% of deaths occur as a result of bleeding or infection. However, leukemia that occurs as a result of myelodysplasia is notoriously resistant to treatment. Anemia dominates the early course. Most symptomatic patients complain of the gradual onset of fatigue and weakness, dyspnea, and pallor, but at least half the patients are asymptomatic and their MDS is discovered only incidentally on routine blood counts. Previous chemotherapy or radiation exposure is an important factor in the person's medical history. Fever and weight loss should point to a myeloproliferative rather than myelodysplastic process.[citation needed]
## Cause[edit]
Some people have a history of exposure to chemotherapy (especially alkylating agents such as melphalan, cyclophosphamide, busulfan, and chlorambucil) or radiation (therapeutic or accidental), or both (e.g., at the time of stem cell transplantation for another disease). Workers in some industries with heavy exposure to hydrocarbons such as the petroleum industry have a slightly higher risk of contracting the disease than the general population. Xylene and benzene exposures have been associated with myelodysplasia. Vietnam veterans exposed to Agent Orange are at risk of developing MDS. A link may exist between the development of MDS "in atomic-bomb survivors 40 to 60 years after radiation exposure" (in this case, referring to people who were in close proximity to the dropping of the atomic bombs in Hiroshima and Nagasaki during World War II).[7] Children with Down syndrome are susceptible to MDS, and a family history may indicate a hereditary form of sideroblastic anemia or Fanconi anemia.[citation needed]
## Pathophysiology[edit]
MDS most often develops without an identifiable cause. Risk factors include exposure to an agent known to cause DNA damage, such as radiation, benzene, and certain chemotherapies; other risk factors have been inconsistently reported. Proving a connection between a suspected exposure and the development of MDS can be difficult, but the presence of genetic abnormalities may provide some supportive information. Secondary MDS can occur as a late toxicity of cancer therapy (therapy associated MDS, t-MDS). MDS after exposure to radiation or alkylating agents such as busulfan, nitrosourea, or procarbazine, typically occurs 3–7 years after exposure and frequently demonstrates loss of chromosome 5 or 7. MDS after exposure to DNA topoisomerase II inhibitors occurs after a shorter latency of only 1–3 years and can have a 11q23 translocation. Other pre-existing bone-marrow disorders such as acquired aplastic anemia following immunosuppressive treatment and Fanconi anemia can evolve into MDS.[citation needed]
MDS is thought to arise from mutations in the multipotent bone-marrow stem cell, but the specific defects responsible for these diseases remain poorly understood. Differentiation of blood precursor cells is impaired, and a significant increase in levels of apoptotic cell death occurs in bone-marrow cells. Clonal expansion of the abnormal cells results in the production of cells that have lost the ability to differentiate. If the overall percentage of bone-marrow myeloblasts rises over a particular cutoff (20% for WHO and 30% for FAB), then transformation to acute myelogenous leukemia (AML) is said to have occurred. The progression of MDS to AML is a good example of the multistep theory of carcinogenesis in which a series of mutations occurs in an initially normal cell and transforms it into a cancer cell.[citation needed]
While recognition of leukemic transformation was historically important (see History), a significant proportion of the morbidity and mortality attributable to MDS results not from transformation to AML, but rather from the cytopenias seen in all MDS patients. While anemia is the most common cytopenia in MDS patients, given the ready availability of blood transfusion, MDS patients rarely suffer injury from severe anemia. The two most serious complications in MDS patients resulting from their cytopenias are bleeding (due to lack of platelets) or infection (due to lack of white blood cells). Long-term transfusion of packed red blood cells leads to iron overload.
### Genetics[edit]
The recognition of epigenetic changes in DNA structure in MDS has explained the success of two (namely the hypomethylating agents 5-azacytidine and decitabine) of three (the third is lenalidomide) commercially available medications approved by the U.S. Food and Drug Administration to treat MDS. Proper DNA methylation is critical in the regulation of proliferation genes, and the loss of DNA methylation control can lead to uncontrolled cell growth and cytopenias. The recently approved DNA methyltransferase inhibitors take advantage of this mechanism by creating a more orderly DNA methylation profile in the hematopoietic stem cell nucleus, thereby restoring normal blood counts and retarding the progression of MDS to acute leukemia.[citation needed]
Some authors have proposed that the loss of mitochondrial function over time leads to the accumulation of DNA mutations in hematopoietic stem cells, and this accounts for the increased incidence of MDS in older patients. Researchers point to the accumulation of mitochondrial iron deposits in the ringed sideroblast as evidence of mitochondrial dysfunction in MDS.[8]
### 5q- syndrome[edit]
Since at least 1974, the deletion in the long arm of chromosome 5 has been known to be associated with dysplastic abnormalities of hematopoietic stem cells.[9][10] By 2005, lenalidomide, a chemotherapy drug, was recognized to be effective in MDS patients with the 5q- syndrome,[11] and in December 2005, the US FDA approved the drug for this indication. Patients with isolated 5q-, low IPSS risk, and transfusion dependence respond best to lenalidomide. Typically, prognosis for these patients is favorable, with a 63-month median survival. Lenalidomide has dual action, by lowering the malignant clone number in patients with 5q-, and by inducing better differentiation of healthy erythroid cells, as seen in patients without 5q deletion.[citation needed]
### Splicing factor mutations[edit]
Mutations in splicing factors have been found in 40-80% of cases with myelodysplastic syndrome, particularly in those with ringed sideroblasts.[12]
### IDH1 and IDH2 mutations[edit]
Mutations in the genes encoding for isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in 10-20% of patients with myelodysplastic syndrome,[13] and confer a worsened prognosis in low-risk MDS.[14] Because the incidence of IDH1/2 mutations increases as the disease malignancy increases, these findings together suggest that IDH1/2 mutations are important drivers of progression of MDS to a more malignant disease state.[14]
### GATA2 deficiency[edit]
GATA2 deficiency is a group of disorders caused by a defect, familial, or sporadic inactivating mutations, in one of the two GATA2 genes. These autosomal dominant mutations cause a reduction, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lymph-forming, and other tissue-forming stem cells. In consequence of these mutations, cellular levels of GATA2 are low and individuals develop over time hematological, immunological, lymphatic, or other presentations. Prominent among these presentations is MDS that often progresses to acute myelocytic leukemia or less commonly chronic myelomonocytic leukemia.[15][16]
### Transient myeloproliferative disease[edit]
Transient myeloproliferative disease is the abnormal proliferation of a clone of noncancerous megakaryoblasts in the liver and bone marrow. The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops during pregnancy or shortly after birth, and resolves within 3 months, or in about 10% of cases, progresses to acute megakaryoblastic leukemia.[17][15][18]
## Diagnosis[edit]
The elimination of other causes of cytopenias, along with a dysplastic bone marrow, is required to diagnose a myelodysplastic syndrome, so differentiating MDS from anemia, thrombocytopenia, and leukopenia is important.
A typical diagnostic investigation includes:
* Full blood count and examination of blood film: The blood film morphology can provide clues about hemolytic anemia, clumping of the platelets leading to spurious thrombocytopenia, or leukemia.
* Blood tests to eliminate other common causes of cytopenias such as lupus, hepatitis, B12, folate, or other vitamin deficiencies, kidney failure or heart failure, HIV, hemolytic anemia, monoclonal gammopathy: Age-appropriate cancer screening should be considered for all anemic patients.
* Bone marrow examination by a hematopathologist: This is required to establish the diagnosis, since all hematopathologists consider dysplastic marrow the key feature of myelodysplasia.
* Cytogenetics or chromosomal studies: This is ideally performed on the bone marrow aspirate. Conventional cytogenetics require a fresh specimen, since live cells are induced to enter metaphase to allow chromosomes to be seen.
* Interphase fluorescence in situ hybridization testing, usually ordered together with conventional cytogenetic testing, offers rapid detection of several chromosome abnormalities associated with MDS, including del 5q, -7, +8, and del 20q.
* Virtual karyotyping can be done for MDS,[19] which uses computational tools to construct the karyogram from disrupted DNA. Virtual karyotyping does not require cell culture and has dramatically higher resolution than conventional cytogenetics, but cannot detect balanced translocations.
* Flow cytometry is helpful to identify blasts, abnormal myeloid maturation, and establish the presence of any lymphoproliferative disorder in the marrow.
* Testing for copper deficiency should not be overlooked, as it can morphologically resemble MDS in bone-marrow biopsies.[20]
The features generally used to define a MDS are blood cytopenias, ineffective hematopoiesis, dyserythropoiesis, dysgranulopoiesis, dysmegakaropoiesis, and increased myeloblasts.
Dysplasia can affect all three lineages seen in the bone marrow. The best way to diagnose dysplasia is by morphology and special stains (PAS) used on the bone marrow aspirate and peripheral blood smear. Dysplasia in the myeloid series is defined by:
* Granulocytic series:
1. Hypersegmented neutrophils (also seen in vit B12/folate deficiency)
2. Hyposegmented neutrophils (pseudo Pelger-Huet)
3. Hypogranular neutrophils or pseudo Chediak-Higashi (large azurophilic granules)
4. Auer rods \- automatically RAEB II (if blast count < 5% in the peripheral blood and < 10% in the bone marrow aspirate); also note Auer rods may be seen in mature neutrophils in AML with translocation t(8;21)
5. Dimorphic granules (basophilic and eosinophilic granules) within eosinophils
* Erythroid series:
1. Binucleated erythroid precursors and karyorrhexis
2. Erythroid nuclear budding
3. Erythroid nuclear strings or internuclear bridging (also seen in congenital dyserythropoietic anemias)
4. Loss of e-cadherin in normoblasts is a sign of aberrancy.
5. Periodic acid-Schiff (PAS) (globular in vacuoles or diffuse cytoplasmic staining) within erythroid precursors in the bone marrow aspirate (has no bearing on paraffin-fixed bone-marrow biopsy). Note: one can see PAS vacuolar positivity in L1 and L2 blasts (FAB classification; the L1 and L2 nomenclature is not used in the WHO classification)
6. Ringed sideroblasts (10 or more iron granules encircling one-third or more of the nucleus) seen on Perls' Prussian blue iron stain (>15% ringed sideroblasts when counted among red cell precursors for refractory anemia with ring sideroblasts)
* Megakaryocytic series (can be the most subjective):
1. Hyposegmented nuclear features in platelet producing megakaryocytes (lack of lobation)
2. Hypersegmented (osteoclastic appearing) megakaryocytes
3. Ballooning of the platelets (seen with interference contrast microscopy)
Other stains can help in special cases (PAS and napthol ASD chloroacetate esterase positivity) in eosinophils is a marker of abnormality seen in chronic eosinophilic leukemia and is a sign of aberrancy.
On the bone-marrow biopsy, high-grade dysplasia (RAEB-I and RAEB-II) may show atypical localization of immature precursors, which are islands of immature precursors cells (myeloblasts and promyelocytes) localized to the center of the intertrabecular space rather than adjacent to the trabeculae or surrounding arterioles. This morphology can be difficult to differentiate from treated leukemia and recovering immature normal marrow elements. Also, topographic alteration of the nucleated erythroid cells can be seen in early myelodysplasia (RA and RARS), where normoblasts are seen next to bony trabeculae instead of forming normal interstitially placed erythroid islands.[citation needed]
### Differential diagnosis[edit]
Myelodysplasia is a diagnosis of exclusion and must be made after proper determination of iron stores, vitamin deficiencies, and nutrient deficiencies are ruled out. Also, congenital diseases such as congenital dyserythropoietic anemia (CDA I through IV) have been recognized, Pearson's syndrome (sideroblastic anemia), Jordans anomaly \- vacuolization in all cell lines may be seen in Chanarin-Dorfman syndrome, aminolevulinic acid enzyme deficiency, and other more esoteric enzyme deficiencies are known to give a pseudomyelodysplastic picture in one of the cell lines; however, all three cell lines are never morphologically dysplastic in these entities with the exception of chloramphenicol, arsenic toxicity, and other poisons.[citation needed]
All of these conditions are characterized by abnormalities in the production of one or more of the cellular components of blood (red cells, white cells other than lymphocytes, and platelets or their progenitor cells, megakaryocytes).
### Classification[edit]
#### French-American-British (FAB) classification[edit]
In 1974 and 1975, a group of pathologists from France, the US, and Britain produced the first widely used classification of these diseases. This French-American-British classification was published in 1976,[21] and revised in 1982. It was used by pathologists and clinicians for almost 20 years. Cases were classified into five categories:
ICD-O Name Description
M9980/3 Refractory anemia (RA) characterized by less than 5% primitive blood cells (myeloblasts) in the bone marrow and pathological abnormalities primarily seen in red cell precursors
M9982/3 Refractory anemia with ring sideroblasts (RARS) also characterized by less than 5% myeloblasts in the bone marrow, but distinguished by the presence of 15% or greater of red cell precursors in the marrow being abnormal iron-stuffed cells called "ringed sideroblasts"
M9983/3 Refractory anemia with excess blasts (RAEB) characterized by 5-19% myeloblasts in the marrow
M9984/3 Refractory anemia with excess blasts in transformation (RAEB-T) characterized by 5%-19% myeloblasts in the marrow (>20% blasts is defined as acute myeloid leukemia)
M9945/3 Chronic myelomonocytic leukemia (CMML), not to be confused with chronic myelogenous leukemia or CML characterized by less than 20% myeloblasts in the bone marrow and greater than 1*109/L monocytes (a type of white blood cell) circulating in the peripheral blood.
(A table comparing these is available from the Cleveland Clinic.[22])
The best prognosis is seen with RA and RARS, where some nontransplant patients live more than a decade (typical is on the order of 3–5 years, although long-term remission is possible if a bone-marrow transplant is successful). The worst outlook is with RAEB-T, where the mean life expectancy is less than 1 year. About one-quarter of patients develop overt leukemia. The others die of complications of low blood count or unrelated disease. The International Prognostic Scoring System is another tool for determining the prognosis of MDS, published in Blood in 1997.[23] This system takes into account the percentage of blasts in the marrow, cytogenetics, and number of cytopenias.
#### World Health Organization[edit]
In the late 1990s, a group of pathologists and clinicians working under the World Health Organization (WHO) modified this classification, introducing several new disease categories and eliminating others. Most recently, the WHO has evolved a new classification scheme (2008) that is based more on genetic findings, but morphology of the cells in the peripheral blood, bone marrow aspirate, and bone marrow biopsy are still the screening tests used to decide which classification is best and which cytogenetic aberrations may be related.
The list of dysplastic syndromes under the new WHO system includes:
Old system New system
Refractory anemia (RA) Refractory cytopenia with unilineage dysplasia (Refractory anemia, Refractory neutropenia, and Refractory thrombocytopenia)
Refractory anemia with ringed sideroblasts (RARS) Refractory anemia with ring sideroblasts (RARS)
Refractory anemia with ring sideroblasts - thrombocytosis (RARS-t) (provisional entity) which is in essence a myelodysplastic/myeloproliferative disorder and usually has a JAK2 mutation (janus kinase) - New WHO classification 2008
Refractory cytopenia with multilineage dysplasia (RCMD) includes the subset Refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). RCMD includes patients with pathological changes not restricted to red cells (i.e., prominent white cell precursor and platelet precursor (megakaryocyte) dysplasia.
Refractory anemia with excess blasts (RAEB) Refractory anemias with excess blasts I and II. RAEB was divided into RAEB-I (5-9% blasts) and RAEB-II (10-19%) blasts, which has a poorer prognosis than RAEB-I. Auer rods may be seen in RAEB-II which may be difficult to distinguish from acute myeloid leukemia.
Refractory anemia with excess blasts in transformation (RAEB-T) This category was eliminated; such patients are now considered to have acute leukemia.
5q- syndrome, typically seen in older women with normal or high platelet counts and isolated deletions of the long arm of chromosome 5 in bone marrow cells, was added to the classification.
Chronic myelomonocytic leukemia (CMML) CMML was removed from the myelodysplastic syndromes and put in a new category of myelodysplastic-myeloproliferative overlap syndromes.
Myelodysplasia unclassifiable (seen in those cases of megakaryocyte dysplasia with fibrosis and others)
Refractory cytopenia of childhood (dysplasia in childhood) - New in WHO classification 2008
Note : not all physicians concur with this reclassification, because the underlying pathology of this diseases is not well understood.
#### Myelodysplastic syndrome unclassified[edit]
The WHO has proposed a criterion for diagnosis and classification of MDS that may apply to most cases. However, occasional cases are difficult to classify into defined categories because of one or more unusual features:[citation needed]
* Rare cases with less than 5% blast will present with Auer rods. These cases usually have the features of RAMD.
* Occasionally, cases of MDS present with isolated neutropenia or thrombocytopenia without anemia and with dysplastic changes confined to the single lineage. The term refractory neutropenia and refractory thrombocytopenia have sometimes been used to describe these cases. A diagnosis of MDS in patients with neutropenia or thrombocytopenia without anemia should be made with caution.
* Patients with RA or RAEB occasionally present with leukocytosis or thrombocytosis instead of the usual cytopenia.
## Management[edit]
The goals of therapy are to control symptoms, improve quality of life, improve overall survival, and decrease progression to AML.
The IPSS scoring[24] system can help triage patients for more aggressive treatment (i.e. bone marrow transplant) as well as help determine the best timing of this therapy.[25] Supportive care with blood products and hematopoietic growth factors (e.g. erythropoietin) is the mainstay of therapy. The regulatory environment for the use of erythropoietins is evolving, according to a recent US Medicare National coverage determination. However, no comment on the use of hematopoietic growth factors for MDS was made in that document.[26]
Agents have been approved by the U.S. Food and Drug Administration (FDA) for the treatment of MDS:
1. 5-azacytidine: 21-month median survival[27][28][29][30]
2. Decitabine: Complete response rate reported as high as 43%. A phase I study has shown efficacy in AML when decitabine is combined with valproic acid.[31][32][33][34]
3. Lenalidomide: Effective in reducing red blood cell transfusion requirement in patients with the chromosome 5q deletion subtype of MDS[35]
4. Decitabine/cedazuridine (Inqovi) is a fixed-dosed combination medication for the treatment of adults with myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML).[36]
Chemotherapy with the hypomethylating agents 5-azacytidine and decitabine has been shown to decrease blood transfusion requirements and to retard the progression of MDS to AML. Lenalidomide was approved by the FDA in December 2005 only for use in the 5q- syndrome. In the United States, treatment of MDS with lenalidomide costs about $9,200 per month.[37] The chemotherapy may be supported by other drugs like all-trans retinoic acid (ATRA), however the evidence of benefit is not clear.[38]
HLA-matched allogeneic stem cell transplantation, particularly in younger (i.e. less than 40 years of age) and more severely affected patients, offers the potential for curative therapy. Success of bone marrow transplantation has been found to correlate with severity of MDS as determined by the IPSS score, with patients having a more favorable IPSS score tending to have a more favorable outcome with transplantation.[39] If patient receive a stem cell transplant, they can develop a graft-versus-host disease (GvHD). The evidence is very uncertain about the therapeutic effect of mesenchymal stromal cells to treat graft-versus-host diseases after a stem cell transplantation on the all-cause mortality and complete disappear of chronic acute graft-versus-host diseases. Mesenchymal stromal cells may results in little to no difference in the all-cause mortality, relapse of malignant disease and incidence of acute and chronic graft-versus-host diseases if they are used for prophylactic reason.[40]
Patients that receive a stem cell transplant or a chemotherapy as a treatment might have a higher risk for bleeding and may require platelet transfusions.[41][42] Physical exercises in addition to the standard treatment for adult patients with haematological malignancies may result in little to no difference in the mortality, in the quality of life and in the physical functioning. These exercises may result in a slight reduction in depression. Furthermore, aerobic physical exercises probably reduce fatigue. The evidence is very uncertain about the effect on anxiety and serious adverse events.[43]
### Iron levels[edit]
Iron overload can develop in MDS as a result of the RBC transfusions, which are a major part of the supportive care for anemic MDS patients. A particular risk exists of delayed engraftment and a need for repeated red-cell transfusion following HLA-identical allogeneic stem-cell transplantation if the recipient is blood type O and the stem-cell donor, type A.[44] Although the specific therapies patients receive may alleviate the RBC transfusion need in some cases, many MDS patients may not respond to these treatments, thus may develop secondary hemochromatosis due to iron overload from repeated RBC transfusions. Patients requiring relatively large numbers of RBC transfusions can experience the adverse effect of chronic iron overload on their liver, heart, and endocrine functions. The resulting organ dysfunction from transfusional iron overload might be a contributor to increased illness and death in early-stage MDS.[citation needed]
For patients requiring many RBC transfusions, serum ferritin levels, number of RBC transfusions received, and associated organ dysfunction (heart, liver, and pancreas) should be monitored to determine iron levels. Monitoring serum ferritin may also be useful, aiming to decrease ferritin levels to < 1000 µg/l.Currently, two iron chelators are available in the US, deferoxamine for intravenous use and deferasirox for oral use. These options now provide potentially useful drugs for treating this iron overload problem. A third chelating agent is available in Europe, deferiprone, for oral use, but is not available in the US.[citation needed]
Clinical trials in the MDS are ongoing with iron chelating agents to address the question of whether iron chelation alters the natural history of patients with MDS who are transfusion dependent. Reversal of some of the consequences of iron overload in MDS by iron chelation therapy have been shown.Both the MDS Foundation and the National Comprehensive Cancer Network MDS Guidelines Panel have recommended that chelation therapy be considered to decrease iron overload in selected MDS patients. Evidence also suggests a potential value exists to iron chelation in patients who will undergo a stem-cell transplant.Although deferasirox is generally well tolerated (other than episodes of gastrointestinal distress and kidney dysfunction in some patients), recently a safety warning by the FDA and Novartis was added to deferasirox treatment guidelines. Following postmarketing use of deferasirox, rare cases of acute kidney failure or liver failure occurred, some resulting in death. Due to this, patients should be closely monitored on deferasirox therapy prior to the start of therapy and regularly thereafter.[citation needed]
## Prognosis[edit]
The outlook in MDS is variable, with about 30% of patients progressing to refractory AML. The median survival time varies from years to months, depending on type. Stem-cell transplantation offers possible cure, with survival rates of 50% at 3 years, although older patients do poorly.[45]
Indicators of a good prognosis: Younger age; normal or moderately reduced neutrophil or platelet counts; low blast counts in the bone marrow (< 20%) and no blasts in the blood; no Auer rods; ringed sideroblasts; normal or mixed karyotypes without complex chromosome abnormalities; and in vitro marrow culture with a nonleukemic growth pattern
Indicators of a poor prognosis: Advanced age; severe neutropenia or thrombocytopenia; high blast count in the bone marrow (20-29%) or blasts in the blood; Auer rods; absence of ringed sideroblasts; abnormal localization or immature granulocyte precursors in bone marrow section; completely or mostly abnormal karyotypes, or complex marrow chromosome abnormalities and in vitro bone marrow culture with a leukemic growth pattern
Karyotype prognostic factors:
* Good: normal, -Y, del(5q), del(20q)
* Intermediate or variable: +8, other single or double anomalies
* Poor: complex (>3 chromosomal aberrations); chromosome 7 anomalies[46]
The IPSS is the most commonly used tool in MDS to predict long-term outcome.[23]
Cytogenetic abnormalities can be detected by conventional cytogenetics, a FISH panel for MDS, or virtual karyotype.
### Genetic markers[edit]
Although not yet formally incorporated in the generally accepted classification systems, molecular profiling of myelodysplastic syndrome genomes has increased the understanding of prognostic molecular factors for this disease. For example, in low-risk MDS, IDH1 and IDH2 mutations are associated with significantly worsened survival.[14]
## Epidemiology[edit]
The exact number of people with MDS is not known because it can go undiagnosed and no tracking of the syndrome is mandated. Some estimates are on the order of 10,000 to 20,000 new cases each year in the United States alone. The number of new cases each year is probably increasing as the average age of the population increases, and some authors propose that the number of new cases in those over 70 may be as high as 15 per 100,000 per year.[47]
The typical age at diagnosis of MDS is between 60 and 75 years; a few people are younger than 50, and diagnoses are rare in children. Males are slightly more commonly affected than females.
## History[edit]
Since the early 20th century, some people with acute myelogenous leukemia were begun to be recognized to have a preceding period of anemia and abnormal blood cell production. These conditions were lumped together with other diseases under the term "refractory anemia". The first description of "preleukemia" as a specific entity was published in 1953 by Block et al.[48] The early identification, characterization and classification of this disorder were problematical, and the syndrome went by many names until the 1976 FAB classification was published and popularized the term MDS.[citation needed]
## Notable cases[edit]
* Roald Dahl
* Carl Sagan[49]
* Susan Sontag[50]
* Michael Brecker[51]
* Pat Hingle[52]
* Jeff Conaway[53]
* Paul Motian[54]
* John Kirby (attorney)
* James W. Nance
* Robin Roberts (newscaster)
## See also[edit]
* Chloroma
* Myeloproliferative syndrome
* Clonal hematopoiesis
## References[edit]
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2. ^ "Myelodysplastic Syndromes". NORD (National Organization for Rare Disorders). Retrieved 23 May 2019.
3. ^ a b c d e f g h i j k l m n o p q r s "Myelodysplastic Syndromes Treatment (PDQ®)–Patient Version". NCI. 12 August 2015. Archived from the original on 5 October 2016. Retrieved 27 October 2016.
4. ^ a b c d Germing U, Kobbe G, Haas R, Gattermann N (November 2013). "Myelodysplastic syndromes: diagnosis, prognosis, and treatment". Deutsches Ärzteblatt International. 110 (46): 783–90. doi:10.3238/arztebl.2013.0783. PMC 3855821. PMID 24300826.
5. ^ a b Hong WK, Holland JF (2010). Holland-Frei Cancer Medicine 8 (8 ed.). PMPH-USA. p. 1544. ISBN 9781607950141. Archived from the original on 2016-10-27.
6. ^ Myelodysplastic Syndrome. The Leukemia & Lymphoma Society. White Plains, NY. 2001. p 24. Retrieved 05-12-2008.
7. ^ Iwanaga M, Hsu WL, Soda M, Takasaki Y, Tawara M, Joh T, et al. (February 2011). "Risk of myelodysplastic syndromes in people exposed to ionizing radiation: a retrospective cohort study of Nagasaki atomic bomb survivors". Journal of Clinical Oncology. 29 (4): 428–34. doi:10.1200/JCO.2010.31.3080. PMID 21149671.
8. ^ Cazzola M, Invernizzi R, Bergamaschi G, Levi S, Corsi B, Travaglino E, et al. (March 2003). "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia". Blood. 101 (5): 1996–2000. doi:10.1182/blood-2002-07-2006. PMID 12406866.
9. ^ Bunn HF (November 1986). "5q- and disordered haematopoiesis". Clinics in Haematology. 15 (4): 1023–35. PMID 3552346.
10. ^ Van den Berghe H, Cassiman JJ, David G, Fryns JP, Michaux JL, Sokal G (October 1974). "Distinct haematological disorder with deletion of long arm of no. 5 chromosome". Nature. 251 (5474): 437–8. Bibcode:1974Natur.251..437V. doi:10.1038/251437a0. PMID 4421285. S2CID 4286311.
11. ^ List A, Kurtin S, Roe DJ, Buresh A, Mahadevan D, Fuchs D, et al. (February 2005). "Efficacy of lenalidomide in myelodysplastic syndromes". The New England Journal of Medicine. 352 (6): 549–57. doi:10.1056/NEJMoa041668. PMID 15703420.
12. ^ Rozovski U, Keating M, Estrov Z (2012) The significance of spliceosome mutations in chronic lymphocytic leukemia. Leuk Lymphoma
13. ^ Molenaar RJ, Radivoyevitch T, Maciejewski JP, van Noorden CJ, Bleeker FE (December 2014). "The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation". Biochimica et Biophysica Acta (BBA) - Reviews on Cancer. 1846 (2): 326–41. doi:10.1016/j.bbcan.2014.05.004. PMID 24880135.
14. ^ a b c Molenaar RJ, Thota S, Nagata Y, Patel B, Clemente M, Przychodzen B, et al. (November 2015). "Clinical and biological implications of ancestral and non-ancestral IDH1 and IDH2 mutations in myeloid neoplasms". Leukemia. 29 (11): 2134–42. doi:10.1038/leu.2015.91. PMC 5821256. PMID 25836588.
15. ^ a b Crispino JD, Horwitz MS (April 2017). "GATA factor mutations in hematologic disease". Blood. 129 (15): 2103–2110. doi:10.1182/blood-2016-09-687889. PMC 5391620. PMID 28179280.
16. ^ Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM (August 2017). "Heterogeneity of GATA2-related myeloid neoplasms". International Journal of Hematology. 106 (2): 175–182. doi:10.1007/s12185-017-2285-2. PMID 28643018.
17. ^ Bhatnagar N, Nizery L, Tunstall O, Vyas P, Roberts I (October 2016). "Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update". Current Hematologic Malignancy Reports. 11 (5): 333–41. doi:10.1007/s11899-016-0338-x. PMC 5031718. PMID 27510823.
18. ^ Seewald L, Taub JW, Maloney KW, McCabe ER (September 2012). "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism. 107 (1–2): 25–30. doi:10.1016/j.ymgme.2012.07.011. PMID 22867885.
19. ^ Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3):1534-42.
20. ^ Huff JD, Keung YK, Thakuri M, Beaty MW, Hurd DD, Owen J, Molnár I (July 2007). "Copper deficiency causes reversible myelodysplasia". American Journal of Hematology. 82 (7): 625–30. doi:10.1002/ajh.20864. PMID 17236184. S2CID 44398996.
21. ^ Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C (August 1976). "Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group". British Journal of Haematology. 33 (4): 451–8. doi:10.1111/j.1365-2141.1976.tb03563.x. PMID 188440. S2CID 9985915.
22. ^ "Table 1: French-American-British (FAB) Classification of MDS". Archived from the original on 2006-01-17.
23. ^ a b Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. (March 1997). "International scoring system for evaluating prognosis in myelodysplastic syndromes". Blood. 89 (6): 2079–88. doi:10.1182/blood.V89.6.2079. PMID 9058730.
24. ^ "Marrowforums.org: MDS - Myelodysplastic Syndromes". www.marrowforums.org. Archived from the original on June 14, 2011.
25. ^ Cutler CS, Lee SJ, Greenberg P, Deeg HJ, Pérez WS, Anasetti C, et al. (July 2004). "A decision analysis of allogeneic bone marrow transplantation for the myelodysplastic syndromes: delayed transplantation for low-risk myelodysplasia is associated with improved outcome". Blood. 104 (2): 579–85. doi:10.1182/blood-2004-01-0338. PMID 15039286.
26. ^ "Centers for Medicare & Medicaid Services". Archived from the original on 2008-10-05. Retrieved 2007-10-29.
27. ^ Wijermans P, Lübbert M, Verhoef G, Bosly A, Ravoet C, Andre M, Ferrant A (March 2000). "Low-dose 5-aza-2'-deoxycytidine, a DNA hypomethylating agent, for the treatment of high-risk myelodysplastic syndrome: a multicenter phase II study in elderly patients". Journal of Clinical Oncology. 18 (5): 956–62. doi:10.1200/JCO.2000.18.5.956. PMID 10694544.
28. ^ Lübbert M, Wijermans P, Kunzmann R, Verhoef G, Bosly A, Ravoet C, et al. (August 2001). "Cytogenetic responses in high-risk myelodysplastic syndrome following low-dose treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine". British Journal of Haematology. 114 (2): 349–57. doi:10.1046/j.1365-2141.2001.02933.x. PMID 11529854.
29. ^ Silverman LR, Demakos EP, Peterson BL, Kornblith AB, Holland JC, Odchimar-Reissig R, et al. (May 2002). "Randomized controlled trial of azacitidine in patients with the myelodysplastic syndrome: a study of the cancer and leukemia group B". Journal of Clinical Oncology. 20 (10): 2429–40. doi:10.1200/JCO.2002.04.117. PMID 12011120.
30. ^ Silverman LR, McKenzie DR, Peterson BL, Holland JF, Backstrom JT, Beach CL, Larson RA (August 2006). "Further analysis of trials with azacitidine in patients with myelodysplastic syndrome: studies 8421, 8921, and 9221 by the Cancer and Leukemia Group B". Journal of Clinical Oncology. 24 (24): 3895–903. doi:10.1200/JCO.2005.05.4346. PMID 16921040.
31. ^ Kantarjian HM, O'Brien S, Shan J, Aribi A, Garcia-Manero G, Jabbour E, et al. (January 2007). "Update of the decitabine experience in higher risk myelodysplastic syndrome and analysis of prognostic factors associated with outcome". Cancer. 109 (2): 265–73. doi:10.1002/cncr.22376. PMID 17133405. S2CID 41205800.
32. ^ Kantarjian H, Issa JP, Rosenfeld CS, Bennett JM, Albitar M, DiPersio J, et al. (April 2006). "Decitabine improves patient outcomes in myelodysplastic syndromes: results of a phase III randomized study". Cancer. 106 (8): 1794–803. doi:10.1002/cncr.21792. PMID 16532500. S2CID 9556660.
33. ^ Kantarjian H, Oki Y, Garcia-Manero G, Huang X, O'Brien S, Cortes J, et al. (January 2007). "Results of a randomized study of 3 schedules of low-dose decitabine in higher-risk myelodysplastic syndrome and chronic myelomonocytic leukemia". Blood. 109 (1): 52–7. doi:10.1182/blood-2006-05-021162. PMID 16882708.
34. ^ Blum W, Klisovic RB, Hackanson B, Liu Z, Liu S, Devine H, et al. (September 2007). "Phase I study of decitabine alone or in combination with valproic acid in acute myeloid leukemia". Journal of Clinical Oncology. 25 (25): 3884–91. doi:10.1200/JCO.2006.09.4169. PMID 17679729.
35. ^ List A, Dewald G, Bennett J, Giagounidis A, Raza A, Feldman E, et al. (October 2006). "Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion". The New England Journal of Medicine. 355 (14): 1456–65. doi:10.1056/NEJMoa061292. PMID 17021321.
36. ^ "FDA Approves New Therapy for Myelodysplastic Syndromes (MDS) That Can Be Taken at Home". U.S. Food and Drug Administration (FDA) (Press release). 7 July 2020. Retrieved 7 July 2020. This article incorporates text from this source, which is in the public domain.
37. ^ "Lenalidomide (Revlimid) for anemia of myelodysplastic syndrome". The Medical Letter on Drugs and Therapeutics. 48 (1232): 31–2. April 2006. PMID 16625140.
38. ^ Küley-Bagheri Y, Kreuzer KA, Monsef I, Lübbert M, Skoetz N, et al. (Cochrane Haematological Malignancies Group) (August 2018). "Effects of all-trans retinoic acid (ATRA) in addition to chemotherapy for adults with acute myeloid leukaemia (AML) (non-acute promyelocytic leukaemia (non-APL))". The Cochrane Database of Systematic Reviews. 8: CD011960. doi:10.1002/14651858.CD011960.pub2. PMC 6513628. PMID 30080246.
39. ^ Oosterveld M, Wittebol SH, Lemmens WA, Kiemeney BA, Catik A, Muus P, et al. (October 2003). "The impact of intensive antileukaemic treatment strategies on prognosis of myelodysplastic syndrome patients aged less than 61 years according to International Prognostic Scoring System risk groups". British Journal of Haematology. 123 (1): 81–9. doi:10.1046/j.1365-2141.2003.04544.x. PMID 14510946. S2CID 24037285.
40. ^ Fisher SA, Cutler A, Doree C, Brunskill SJ, Stanworth SJ, Navarrete C, Girdlestone J, et al. (Cochrane Haematological Malignancies Group) (January 2019). "Mesenchymal stromal cells as treatment or prophylaxis for acute or chronic graft-versus-host disease in haematopoietic stem cell transplant (HSCT) recipients with a haematological condition". The Cochrane Database of Systematic Reviews. 1: CD009768. doi:10.1002/14651858.CD009768.pub2. PMC 6353308. PMID 30697701.
41. ^ Estcourt L, Stanworth S, Doree C, Hopewell S, Murphy MF, Tinmouth A, Heddle N, et al. (Cochrane Haematological Malignancies Group) (May 2012). "Prophylactic platelet transfusion for prevention of bleeding in patients with haematological disorders after chemotherapy and stem cell transplantation". The Cochrane Database of Systematic Reviews (5): CD004269. doi:10.1002/14651858.CD004269.pub3. PMID 22592695.
42. ^ Estcourt LJ, Stanworth SJ, Doree C, Hopewell S, Trivella M, Murphy MF, et al. (Cochrane Haematological Malignancies Group) (November 2015). "Comparison of different platelet count thresholds to guide administration of prophylactic platelet transfusion for preventing bleeding in people with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation". The Cochrane Database of Systematic Reviews (11): CD010983. doi:10.1002/14651858.CD010983.pub2. PMC 4717525. PMID 26576687.
43. ^ Knips L, Bergenthal N, Streckmann F, Monsef I, Elter T, Skoetz N, et al. (Cochrane Haematological Malignancies Group) (January 2019). "Aerobic physical exercise for adult patients with haematological malignancies". The Cochrane Database of Systematic Reviews. 1: CD009075. doi:10.1002/14651858.CD009075.pub3. PMC 6354325. PMID 30702150.
44. ^ Tefferi A, Vardiman JW (November 2009). "Myelodysplastic syndromes". The New England Journal of Medicine. 361 (19): 1872–85. doi:10.1056/NEJMra0902908. PMID 19890130.
45. ^ Kasper, Dennis L; Braunwald, Eugene; Fauci, Anthony; et al. (2005). Harrison's Principles of Internal Medicine (16th ed.). New York: McGraw-Hill. p. 625. ISBN 978-0-07-139140-5.
46. ^ Solé F, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Luño E, et al. (February 2000). "Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Español de Citogenética Hematológica". British Journal of Haematology. 108 (2): 346–56. doi:10.1046/j.1365-2141.2000.01868.x. PMID 10691865. S2CID 10149222.
47. ^ Aul C, Giagounidis A, Germing U (June 2001). "Epidemiological features of myelodysplastic syndromes: results from regional cancer surveys and hospital-based statistics". International Journal of Hematology. 73 (4): 405–410. doi:10.1007/BF02994001. PMID 11503953. S2CID 24340387.
48. ^ Block M, Jacobson LO, Bethard WF (July 1953). "Preleukemic acute human leukemia". Journal of the American Medical Association. 152 (11): 1018–28. doi:10.1001/jama.1953.03690110032010. PMID 13052490.
49. ^ "Remembering Carl Sagan - Universe Today". Universe Today. 9 November 2012. Archived from the original on 12 March 2017. Retrieved 10 March 2017.
50. ^ "Illness as More Than Metaphor". The New York Times. 4 December 2005. Retrieved 18 December 2017.
51. ^ "Saxophonist Brecker dies from MDS". Variety. 14 January 2007. Retrieved 23 September 2018.
52. ^ Staff, JournalNow. "Veteran actor Pat Hingle dies at 84 in NC home". Winston-Salem Journal.
53. ^ "Autopsy: The Last Hours of Jeff Conaway." Autopsy: The Last Hours of.... Nar. Eric Meyers. Exec. Prod. Suzy Davis and Michael Kelpie. Reelz, 17 Mar. 2019. Television.
54. ^ McClellan D (November 24, 2011). "Paul Motian dies at 80; jazz drummer and composer". Los Angeles Times. Archived from the original on April 14, 2016. Retrieved 22 February 2020.
## External links[edit]
Wikimedia Commons has media related to Myelodysplastic syndrome.
* Myelodysplastic syndrome at Curlie
* Fenaux, P., et al. (2014). [1] Myelodysplastic syndromes: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of Oncology 25(suppl 3): iii57-iii69.
Classification
D
* ICD-10: D46
* ICD-9-CM: 238.7
* ICD-O: 9980/0-M9989/3
* MeSH: D009190
* DiseasesDB: 8604
* SNOMED CT: 109995007
External resources
* eMedicine: med/2695 ped/1527
* Orphanet: 52688
* v
* t
* e
Myeloid-related hematological malignancy
CFU-GM/
and other granulocytes
CFU-GM
Myelocyte
AML:
* Acute myeloblastic leukemia
* M0
* M1
* M2
* APL/M3
MP
* Chronic neutrophilic leukemia
Monocyte
AML
* AMoL/M5
* Myeloid dendritic cell leukemia
CML
* Philadelphia chromosome
* Accelerated phase chronic myelogenous leukemia
Myelomonocyte
AML
* M4
MD-MP
* Juvenile myelomonocytic leukemia
* Chronic myelomonocytic leukemia
Other
* Histiocytosis
CFU-Baso
AML
* Acute basophilic
CFU-Eos
AML
* Acute eosinophilic
MP
* Chronic eosinophilic leukemia/Hypereosinophilic syndrome
MEP
CFU-Meg
MP
* Essential thrombocytosis
* Acute megakaryoblastic leukemia
CFU-E
AML
* Erythroleukemia/M6
MP
* Polycythemia vera
MD
* Refractory anemia
* Refractory anemia with excess of blasts
* Chromosome 5q deletion syndrome
* Sideroblastic anemia
* Paroxysmal nocturnal hemoglobinuria
* Refractory cytopenia with multilineage dysplasia
CFU-Mast
Mastocytoma
* Mast cell leukemia
* Mast cell sarcoma
* Systemic mastocytosis
Mastocytosis:
* Diffuse cutaneous mastocytosis
* Erythrodermic mastocytosis
* Adult type of generalized eruption of cutaneous mastocytosis
* Urticaria pigmentosa
* Mast cell sarcoma
* Solitary mastocytoma
Systemic mastocytosis
* Xanthelasmoidal mastocytosis
Multiple/unknown
AML
* Acute panmyelosis with myelofibrosis
* Myeloid sarcoma
MP
* Myelofibrosis
* Acute biphenotypic leukaemia
Authority control
* GND: 4281183-1
* NDL: 01159248
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Myelodysplastic syndrome
|
c3463824
| 8,608 |
wikipedia
|
https://en.wikipedia.org/wiki/Myelodysplastic_syndrome
| 2021-01-18T18:57:20 |
{"gard": ["7132"], "mesh": ["D009190"], "umls": ["C0026985", "C3463824"], "icd-9": ["238.7"], "icd-10": ["D46"], "orphanet": ["52688"], "wikidata": ["Q954625"]}
|
Pulmonary atresia
Other namesPulmonary atresia - intact ventricular septum[1]
Pulmonary valve (center left)
SpecialtyCardiology
SymptomsCyanosis[1]
CausesNo known cause for pulmonary atresia[1]
Diagnostic methodChest x-ray, Echocardiogram[1]
TreatmentProstaglandin E1, Heart catheterization[1]
Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs.[2] The pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery. In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close[3]
In congenital heart defects such as pulmonary atresia, structural abnormalities can include the valves of the heart, and the walls and arteries/veins near the heart muscle. Consequently, blood flow due to the aforementioned structural abnormalities is affected, either by blocking or altering the flow of blood through the human cardiac muscle.[4]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
* 8 Further reading
* 9 External links
## Signs and symptoms[edit]
The symptoms/signs of pulmonary atresia that will occur in babies are consistent with cyanosis, some fatigue and some shortness of breath (eating may be a problem as well).[1]
In the case of pulmonary atresia with ventricular septal defect, one finds that decreased pulmonary blood flow may cause associated defects such as:[5]
* Tricuspid atresia
* Tetralogy of Fallot (severe)
* RV w/ double-outlet
## Cause[edit]
Smoking
In terms of the cause of pulmonary atresia, there is uncertainty as to what instigates this congenital heart defect.[2] Potential risk factors that can cause this congenital heart defect are those the pregnant mother may come in contact with, such as:[2][6]
* Certain medications
* Diet
* Smoking
## Diagnosis[edit]
In regards to the diagnosis of pulmonary atresia the body requires oxygenated blood for survival. pulmonary atresia is not threatening to a developing fetus however, because the mother's placenta provides the needed oxygen since the baby's lungs are not yet functional. Once the baby is born its lungs must now provide the oxygen needed for survival, but with pulmonary atresia there is no opening on the pulmonary valve for blood to get to the lungs and become oxygenated. Due to this, the newborn baby is blue in color and pulmonary atresia can usually be diagnosed within hours or minutes after birth.[medical citation needed]
The diagnosis of pulmonary atresia can be done via the following exams/methods: an echocardiogram, chest x-ray, EKG and an exam to measure the amount of O
2in the body.[1]
### Classification[edit]
Ventricular septal defect via echocardiogram
There are two types of pulmonary atresia.
* Pulmonary Atresia with Intact Ventricular Septum (PA-IVS) is a rare congenital malformation. PA-IVS involves complete blockage of the pulmonary valve located on the right side of the heart. This blockage prevents the flow of blood to the lungs. Because of this lack of blood flowing through the right side of the heart, the structures on that side, such as the pulmonary valve and the tricuspid valve, are abnormally small.[2][7]
* Pulmonary atresia with Ventricular Septal Defect (PA-VSD) is identified by underdevelopment of the right ventricle. The Ventricular Septal Defect (VSD) is a second opening in the ventricular wall, which provides a way out for blood in the right ventricle. When this second opening does not exist, very little blood goes to the right ventricle, which is what causes it to be underdeveloped in PA-IVS, this defect can be determined before birth.[2][5]
## Treatment[edit]
Prostaglandin E1
The treatment of pulmonary atresia consists of: an IV medication called prostaglandin E1, which is used for treatment of pulmonary atresia, as it stops the ductus arteriosus from closing, allowing mixing of the pulmonary and systemic circulations, but prostaglandin E1 can be dangerous as it can cause apnea. Another example of preliminary treatment is heart catheterization to evaluate the defect or defects of the heart; this procedure is much more invasive. Ultimately, however, the individual will need to have a series of surgeries to improve the blood flow permanently. The first surgery will likely be performed shortly after birth. A shunt can be created between the aorta and the pulmonary artery to help increase blood flow to the lungs. As the child grows, so does the heart and the shunt may need to be revised in order to meet the body's requirements.[5][8][9]
Fontan procedure
The type of surgery recommended depends on the size of the right ventricle and the pulmonary artery, if the right ventricle is small and unable to act as a pump, the surgery performed would be the Fontan procedure. In this three-stage procedure, the right atrium is disconnected from the pulmonary circulation. The systemic venous return goes directly to the lungs, by-passing the heart. Very young children with elevated pulmonary vascular resistance may not able to undergo the Fontan procedure. Cardiac catheterization may be done to determine the resistance before going ahead with the surgery.[10][11][12]
## Prognosis[edit]
The prognosis for pulmonary atresia varies for every child, if the condition is left uncorrected it may be fatal, but the prognosis has greatly improved over the years for those with pulmonary atresia. Some factors that affect how well the child does include how well the heart is beating, and the condition of the blood vessels that supply the heart. Most cases of pulmonary atresia can be helped with surgery, if the patient's right ventricle is exceptionally small, many surgeries will be needed in order to help stimulate normal circulation of blood to the heart. If uncorrected, babies with this type of congenital heart disease may only survive for the first few days of life. Many children with pulmonary atresia will go on to lead normal lives, though complications such as endocarditis, stroke and seizures are possible.[1][8][13]
## See also[edit]
* Heart valves
* Percutaneous pulmonary valve implantation
## References[edit]
1. ^ a b c d e f g h "Pulmonary atresia: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 2016-05-27.
2. ^ a b c d e "Facts about Pulmonary Atresia | Congenital Heart Defects | NCBDDD | CDC". www.cdc.gov. Retrieved 2016-06-24.
3. ^ "Pulmonic Valve Anatomy: Overview, Pathophysiologic Variants". 2017-09-14. Cite journal requires `|journal=` (help)
4. ^ "Congenital Heart Defects: MedlinePlus". Retrieved 2016-06-24.
5. ^ a b c "Pulmonary Atresia With Ventricular Septal Defect: Background, Epidemiology, Etiology". August 2018. Cite journal requires `|journal=` (help)
6. ^ "Research | Congenital Heart Defects | NCBDDD | CDC". www.cdc.gov. Retrieved 24 June 2016.
7. ^ "Pulmonary Atresia With Intact Ventricular Septum: Background, Pathophysiology, Etiology". 2018-06-07. Cite journal requires `|journal=` (help)
8. ^ a b Murthy, KS; Reddy, K Pramod; Nagarajan, R; Goutami, V; Cherian, KM (2010-01-01). "Management of ventricular septal defect with pulmonary atresia and major aorto pulmonary collateral arteries: Challenges and controversies". Annals of Pediatric Cardiology. 3 (2): 127–135. doi:10.4103/0974-2069.74040. ISSN 0974-2069. PMC 3017916. PMID 21234191.
9. ^ "Alprostadil (PGE1) for Maintaining Ductal Patency".
10. ^ Fredenburg, Tyler B.; Johnson, Tiffanie R.; Cohen, Mervyn D. (2011-03-01). "The Fontan Procedure: Anatomy, Complications, and Manifestations of Failure". RadioGraphics. 31 (2): 453–463. doi:10.1148/rg.312105027. ISSN 0271-5333. PMID 21415190.
11. ^ White, Charles S.; Haramati, Linda B.; Chen, Joseph Jen-Sho; Levsky, Jeffrey M. (2014-06-03). Cardiac Imaging. Oxford University Press. p. 477. ISBN 9780199829484.
12. ^ Feltes, Timothy F.; Bacha, Emile; Beekman, Robert H.; Cheatham, John P.; Feinstein, Jeffrey A.; Gomes, Antoinette S.; Hijazi, Ziyad M.; Ing, Frank F.; Moor, Michael de (2011-06-07). "Indications for Cardiac Catheterization and Intervention in Pediatric Cardiac Disease A Scientific Statement From the American Heart Association". Circulation. 123 (22): 2607–2652. doi:10.1161/CIR.0b013e31821b1f10. ISSN 0009-7322. PMID 21536996.
13. ^ Abuhamad, Alfred Z.; Chaoui, Rabih (2012-03-28). A Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts. Lippincott Williams & Wilkins. pp. 185–86. ISBN 9781451147803.
## Further reading[edit]
* Daubeney, Piers E. F; Delany, David J; Anderson, Robert H; Sandor, George G. S; Slavik, Zdenek; Keeton, Barry R; Webber, Steven A (2002-05-15). "Pulmonary atresia with intact ventricular septum: Range of morphology in a population-based study". Journal of the American College of Cardiology. 39 (10): 1670–1679. doi:10.1016/S0735-1097(02)01832-6. PMID 12020496.
* Tzifa, Aphrodite; Barker, Claire; Tibby, Shane M; Simpson, John M (2007-05-01). "Prenatal diagnosis of pulmonary atresia: impact on clinical presentation and early outcome". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (3): F199–F203. doi:10.1136/adc.2006.093880. ISSN 1359-2998. PMC 2675326. PMID 16840499.
* Awori, Mark Nelson; Mehta, Nikita P.; Mitema, Frederick O.; Kebba, Naomi (18 May 2017). "Optimal -Score Use in Surgical Decision-Making in Pulmonary Atresia With Intact Ventricular Septum". World Journal for Pediatric and Congenital Heart Surgery. 8 (3): 385–388. doi:10.1177/2150135117701407. ISSN 2150-136X. PMID 28520535.
## External links[edit]
Classification
D
* ICD-10: Q25.5
* ICD-9-CM: 747.3
* MeSH: D018633
External resources
* MedlinePlus: 001091
* eMedicine: ped/2526 ped/2898
Scholia has a topic profile for Pulmonary atresia.
* v
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* e
Congenital vascular defects / Vascular malformation
Great arteries/
other arteries
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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
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*[ITA]: Italy
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*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Pulmonary atresia
|
c0242855
| 8,609 |
wikipedia
|
https://en.wikipedia.org/wiki/Pulmonary_atresia
| 2021-01-18T19:02:19 |
{"mesh": ["D018633"], "umls": ["C0242855"], "icd-9": ["747.3"], "icd-10": ["Q25.5"], "wikidata": ["Q2090736"]}
|
A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Early-onset non-syndromic cataract
|
c1855179
| 8,610 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91492
| 2021-01-23T19:05:55 |
{"mesh": ["C538282"], "omim": ["115650", "115660", "115665", "115700", "115800", "115900", "116100", "116200", "116300", "116400", "116600", "116700", "116800", "212500", "302200", "600881", "601202", "601547", "601885", "604219", "604307", "605387", "605728", "605749", "607304", "609376", "609741", "610019", "610202", "610425", "610623", "611391", "611544", "611597", "613763", "614422", "614691", "615188", "615274", "615277", "616279", "616509", "616851"], "icd-10": ["Q12.0"]}
|
Adenosquamous carcinoma
Micrograph of an adenosquamous carcinoma of the lung. The adeno- or glandular component is on the left of the image and the squamous component on the right of the image. H&E stain.
SpecialtyOncology
Adenosquamous carcinoma is a type of cancer that contains two types of cells: squamous cells (thin, flat cells that line certain organs) and gland-like cells. It has been associated with more aggressive characteristics when compared to adenocarcinoma in certain cancers.[1][2] It is responsible for 1% to 4% of exocrine forms of pancreas cancer.[3]
## Diagnosis[edit]
Micrograph of adenosquamous carcinoma of the pancreas.
Light microscopy shows a combination of gland-like cells and squamous epithelial cells.[4] On immunohistochemistry, it is typically positive for CK5/6, CK7 and p63, and negative for CK20, p16 and p53. On genetic testing, KRAS and p53 are typically altered.[4]
## References[edit]
1. ^ Mahendraraj, Krishnara; Di Como, Joseph A. (October 2014). "Adenosquamous carcinoma of the pancreas: a population based clinical outcomes studies involving 700 patients from the Surveillance, Epidemiology, and End Results (SEER) database (1973-2010)". Journal of the American College of Surgeons. 219 (4): 109. doi:10.1016/j.jamcollsurg.2014.07.676.
2. ^ Di Como, Joseph A. (October 2015). "Adenosquamous carcinoma of the colon and rectum: a population based clinical outcomes study involving 578 patients from the Surveillance Epidemiology and End Result (SEER) database (1973-2010)". Journal of the American College of Surgeons. 221 (4): 56. doi:10.1016/j.jamcollsurg.2015.08.044.
3. ^ Skafida, Evangelia; Grammatoglou, Xanthippi; Glava, Chryssoula; Zissis, Dimitrios; Paschalidis, Nikolaos; Katsamagkou, Eleftheria; Firfiris, Nikolaos; Vasilakaki, Thivi (2010). "Adenosquamous carcinoma of the pancreas: a case report". Cases Journal. 3 (1). doi:10.1186/1757-1626-3-41. ISSN 1757-1626.
4. ^ a b Pishvaian MJ, Brody JR (2017). "Therapeutic Implications of Molecular Subtyping for Pancreatic Cancer". Oncology (Williston Park). 31 (3): 159–66, 168. PMID 28299752.
## External links[edit]
Classification
D
* ICD-O: M8560/3
* MeSH: D018196
* Adenosquamous carcinoma entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Adenosquamous carcinoma
|
c0206623
| 8,611 |
wikipedia
|
https://en.wikipedia.org/wiki/Adenosquamous_carcinoma
| 2021-01-18T18:57:23 |
{"mesh": ["D018196"], "umls": ["C0206623"], "wikidata": ["Q3658380"]}
|
Senile pruritus
SpecialtyDermatology
Senile pruritus is an itch in the elderly of unknown cause.[1]
## See also[edit]
* Drug-induced pruritus
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 86. ISBN 1-4160-2999-0.
## External links[edit]
Classification
D
* ICD-10: L29.8 (ILDS L29.840)
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
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* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
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* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Senile pruritus
|
c0263351
| 8,612 |
wikipedia
|
https://en.wikipedia.org/wiki/Senile_pruritus
| 2021-01-18T18:48:59 |
{"umls": ["C0263351"], "icd-10": ["L29.8"], "wikidata": ["Q7450636"]}
|
A number sign (#) is used with this entry because autosomal dominant spastic ataxia-1 (SPAX1) is caused by heterozygous mutation in the VAMP1 gene (185880) on chromosome 12p13.
Description
Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012).
### Genetic Heterogeneity of Spastic Ataxia
See also SPAX2 (611302), caused by mutation in the KIF1C gene (603060) on chromosome 17p13; SPAX3 (611390), caused by rearrangements of the MARS2 gene (609728) on chromosome 2q33; SPAX4 (613672), caused by mutation in the MTPAP gene (613669) on chromosome 10p11; SPAX5 (614487), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; SPAX6 (270550), caused by mutation in the SACS gene (604490) on chromosome 13q12; SPAX7 (108650); SPAX8 (617560), caused by mutation in the NKX6-2 gene (605955) on chromosome 8q21; and SPAX9 (618438), caused by mutation in the CHP1 gene (606988) on chromsome 15q15.
Clinical Features
Mahloudji (1963) described a rare hereditary syndrome of spastic ataxia, closely resembling disseminated sclerosis (126200), in 18 persons in an Iranian family. The pedigree, covering 5 generations, strongly suggested autosomal dominant transmission. It appeared to be the same disorder as that reported by Ferguson and Critchley (1929). Gayle and Williams (1933) described 17 cases in 4 generations of a disorder beginning in the sixth decade with stiffness in the leg muscles, followed by stumbling, dysarthria, and loss of memory. Although progression to severe spastic paraplegia occurred, the disorder did not shorten life. These patients lived in Accomac and Northampton counties on the eastern shore of Virginia.
Meijer et al. (2002) described 3 large Newfoundland families with autosomal dominant hereditary spastic ataxia in which most affected individuals initially presented with progressive leg spasticity of variable degrees followed by ataxia in the form of involuntary head jerk, dysarthria, dysphagia, and ocular movement abnormalities with no signs of amyotrophy. The lower limbs showed hyperreflexia and hypertonicity. The ocular movement abnormalities included slow saccades, impaired vertical gaze, and, in some cases, lid retraction. A few patients had additional features, such as dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. This phenotype resembled that observed in autosomal recessive Charlevoix-Saguenay spastic ataxia (ARSACS; 270550); however, these families were from a different population and showed a clear pattern of dominant inheritance with a later age at onset than is seen in ARSACS. The severity of the phenotype in the 3 families studied by Meijer et al. (2002) varied greatly within and among the families, and the age at onset was from early childhood to early twenties, although most presented with onset of symptoms at age 10 to 20 years. Neuropathologic findings included degeneration of the corticospinal tracts and posterior columns. The life span and cognition of patients was not affected. There was no recognized kinship between these 3 families, although the detection of a shared disease haplotype suggested that they originated from a common ancestor.
In further studies of the 3 large families reported by Meijer et al. (2002) from a historically isolated cluster of rural communities, Grewal et al. (2004) assumed that the affected individuals had the same condition, although they were apparently unrelated. They noted that significant mobility problems were present by the fourth decade, with a broad-based ataxic and spastic gait. MRI scans of the brain and spinal cord were normal. Neuropathologic changes included midbrain neuronal loss. Variability of phenotypic expression could be observed even within the same sibship. Pedigree analysis showed no evidence of anticipation or any sex differences in severity. The condition was unusually prevalent in the province of Newfoundland, which is a characteristic of a founder effect followed by isolation and large family size.
Mapping
Meijer et al. (2002) performed linkage studies in 3 large Newfoundland families with autosomal dominant hereditary spastic ataxia. A genomewide scan was performed on 1 family and linkage to a novel locus was identified on 12p13, which the authors termed 'SAX1,' that remained to be identified. (The locus is referred to here as SPAX1, to prevent confusion with previously named gene symbols.) Fine mapping confirmed linkage in the 2 large families, and the third smaller family showed lod scores suggestive of linkage. It was found that affected individuals in all 3 families shared a disease haplotype. SAX1 was said to have been the first locus mapped for autosomal dominant hereditary spastic ataxia.
Grewal et al. (2004) reported fine mapping of the SAX1 locus on 12p13 that reduced the critical interval to 1.9 Mb.
Molecular Genetics
In multiple affected members of 4 large multigenerational families from Newfoundland with autosomal dominant SPAX1, as well as in 3 isolated cases from Ontario with a similar disease, Bourassa et al. (2012) identified a heterozygous mutation in the VAMP1 gene (185880.0001). Three of the families had been reported by Meijer et al. (2002). The mutation, which was found by sequencing genes within the candidate disease locus on chromosome 12p13, segregated with the disorder in the families. Considering the structure of the VAMP1 isoforms and their tissue-specific expression, Bourassa et al. (2012) concluded that the mutation results in alternative splicing with the production of an abnormal inactive isoform in neurons, resulting in haploinsufficiency of VAMP1 in the brain. This would result in decreased neurotransmitter exocytosis and neurologic symptoms. However, no biopsy or autopsy tissue from the patients was available.
History
In their classic study into the genetic nosology of spinocerebellar 'degenerations,' Bell and Carmichael (1939) classified the conditions as Friedreich ataxia, familial spastic ataxia, and hereditary spastic paraplegia. They recognized 2 forms of familial spastic ataxia, a dominant form with relatively late onset and a recessive form with onset at ages 10 to 12 years. It is difficult to know whether these dominant and recessive forms are entities separate from some of the other cerebelloparenchymal, olivopontocerebellar and spinocerebellar disorders listed here.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Head jerks Eyes \- Ocular movement abnormalities \- Slow saccades \- Supranuclear gaze palsy \- Ptosis ABDOMEN Gastrointestinal \- Dysphagia SKELETAL Feet \- Pes cavus MUSCLE : Leg muscle stiffness NEUROLOGIC Central Nervous System \- Spastic ataxia \- Spastic paraplegia \- Gait disturbances \- Dysarthria \- Hyperreflexia \- Dystonia \- Memory loss Peripheral Nervous System \- Decreased vibration sense in the lower limbs (in some patients) MISCELLANEOUS \- Onset between 10 and 20 years of age \- Variable severity \- Prevalent in Newfoundland MOLECULAR BASIS \- Caused by mutation in the vesicle-associated membrane protein 1 gene (VAMP1, 185880.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT
|
c1970107
| 8,613 |
omim
|
https://www.omim.org/entry/108600
| 2019-09-22T16:44:42 |
{"doid": ["0050772"], "mesh": ["C566993"], "omim": ["108600"], "orphanet": ["251282"]}
|
This article needs attention from an expert in Medicine. The specific problem is: May need to be merged with existing articles. WikiProject Medicine may be able to help recruit an expert. (October 2019)
The acid peptic diseases, also known as acid peptic disorders are a collection of diseases involving acid production in the stomach and nearby parts of the gastrointestinal tract. It includes gastroesophageal reflux disease, gastritis, gastric ulcer, duodenal ulcer, esophageal ulcer, Zollinger–Ellison syndrome and Meckel's diverticulum ulcer.[1] Acid peptic disorders are the result of distinctive, but overlapping pathogenic mechanisms leading to either excessive acid secretion or diminished mucosal defense.[2]
## References[edit]
1. ^ Singh, Dr. G. Jeba (March 10, 2016). "Kunmam (Acid Peptic Disease)". National Health Portal.
2. ^ Mejia, Alex; Kraft, Walter K (May 2009). "Acid peptic diseases: pharmacological approach to treatment". Expert Review of Clinical Pharmacology. 2 (3): 295–314. doi:10.1586/ecp.09.8. ISSN 1751-2433. PMC 3149864. PMID 21822447.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Acid peptic diseases
|
None
| 8,614 |
wikipedia
|
https://en.wikipedia.org/wiki/Acid_peptic_diseases
| 2021-01-18T18:55:45 |
{"wikidata": ["Q85850165"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is caused by homozygous mutation in the TOR1AIP1 gene (614512) on chromosome 1q25. One such family has been reported.
Description
Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by Kayman-Kurekci et al., 2014).
Clinical Features
Kayman-Kurekci et al. (2014) reported 3 patients from a consanguineous Turkish family with a myopathic disorder. Detailed clinical features were only available for 2 sibs, whose phenotype varied somewhat. The 29-year-old sister had onset of proximal muscle weakness at age 7 years. As a young adult, she could walk, but could not rise from the floor. She had a thin appearance with flexion contractures of the proximal and distal interphalangeal hand joints, as well as mild spinal rigidity in the cervical region. She had restricted pulmonary function, but normal cardiac function; serum creatine kinase was normal. Her 36-year-old brother had onset at age 17 years of proximal weakness of the lower limbs, which progressed to marked distal muscle weakness and atrophy affecting the upper and lower limbs within a few years, resulting in an inability to walk long distances. He also developed contractures, with spine, ankle, and hand involvement. Serum creatine kinase was increased, and EMG showed a myopathic pattern. The brother also had cardiac involvement, with mild diastolic and systolic dysfunction and an ejection fraction of 57%. Pulmonary function was moderately restricted. Neither patient had elbow contractures. Skeletal muscle biopsies in both patients showed mild dystrophic changes, including variation in fiber size, increased internal nuclei, atrophic fibers, and increased endomysial connective tissue. There were no rimmed vacuoles. Electron microscopic studies showed nuclear fragmentation and deformation, chromatin clump formation, and naked chromatin resulting from karyoplasmic leakage into the sarcoplasmic compartment. Sewry and Goebel (2014) commented that the ultrastructural features of the nuclei identified by Kayman-Kurekci et al. (2014) were nonspecific, and that some of the material may have represented lipofuscin rather than DNA. Kayman-Kurekci et al. (2014) responded that no autofluorescence was detected and that some of the fibers may have contained lipofuscin, but that the material they identified was extruded chromatin; these authors also corrected the legend in figure 3(C) in the original article to designate a degenerated nucleus and not naked chromatin.
Inheritance
The transmission pattern of MRRSDC in the family reported by Kayman-Kurekci et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 members of a consanguineous Turkish family with MRRSDC, Kayman-Kurekci et al. (2014) identified a homozygous truncating mutation in the TOR1AIP1 gene (614512.0001). The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. Linkage analysis excluded other known LGMD2 loci. Skeletal muscle samples from 1 patient showed a 5-fold decrease in TOR1AIP1 mRNA compared to controls. Western blot analysis showed absence of the wildtype 66.3-kD TOR1AIP1 protein (LAP1B), but increased amounts of a 50-kD protein compared to controls. Expression of LULL1 (TOR1AIP2; 614513) was also increased compared to controls. Skeletal muscle biopsy showed dystrophic changes and a substantial loss of LAP1B immunostaining, although there appeared to be LAP1B in the endomysial regions, which likely represented the 50-kD isoform.
INHERITANCE \- Autosomal recessive CARDIOVASCULAR Heart \- Diastolic and systolic dysfunction, mild (1 patient) \- Decreased ejection fraction (1 patient) RESPIRATORY \- Restricted pulmonary function SKELETAL \- Joint contractures Spine \- Rigid spine Limbs \- Ankle contractures Hands \- Flexion contractures of the fingers MUSCLE, SOFT TISSUES \- Muscular dystrophy, limb-girdle \- Muscle weakness, proximal, early in disease course \- Muscle weakness, distal, later in disease course \- Lower and upper limb weakness \- Lower and upper limb muscle atrophy \- Dystrophic changes seen on muscle biopsy \- Variation in fiber size \- Internalized nuclei \- Atrophic fibers \- Increased endomysial connective tissue \- Degeneration of the nuclear envelope seen on electron microscopy \- Nuclear fragmentation \- Chromatin bleb formation \- Myopathic changes seen on EMG LABORATORY ABNORMALITIES \- Increased serum creatine kinase (1 patient) MISCELLANEOUS \- Onset in first or second decade \- Slowly progressive \- One consanguineous Turkish family has been reported (last curated August 2016) MOLECULAR BASIS \- Caused by mutation in the torsin A-interacting protein 1 gene (TOR1AIP1, 614512.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
|
c4310731
| 8,615 |
omim
|
https://www.omim.org/entry/617072
| 2019-09-22T15:46:58 |
{"doid": ["0110289"], "omim": ["617072"], "orphanet": ["424261"], "synonyms": ["MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y", "Autosomal recessive muscular dystrophy due to LAP1B deficiency", "Muscular dystrophy with progressive weakness, distal contractures and rigid spine", "LGMD2Y", "Alternative titles", "Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency"]}
|
Human disease
Liebenberg syndrome
Other namesBrachydactyly-elbow wrist dysplasia syndrome[1]
Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs.[2] In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures.[3]
The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family,[4] but it has since been noticed in other family lineages across the world.[2]
## Contents
* 1 Symptoms
* 1.1 Phenotype
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Symptoms[edit]
People who are affected by Liebenberg Syndrome suffer from three main symptoms:
1. Dysplasia (improper formation) of the bony components of the elbow
2. Abnormal shape of carpal bones
3. Brachydactyly, a symptom where the fingers and toes are shorter than normal.
### Phenotype[edit]
People with Liebenberg Syndrome have normal overall body structure. Their morphological differences are in both of their distal humeri, elbows, hands and wrists.[5] The elbows are enlarged with abnormally large olecranons and radial heads. Patients have relatively fixed elbow positions and are therefore unable to pronate or supinate their forearms. Their wrists are also limited in their active movements and have very prominent ulnar sides of the joints. The fingers adopt toe-like structures. Brachydactyly and camptodactyly occur; fingers are short and abnormally bent. These changes in finger shape result in small club shaped appendages. Motion is reduced in all digital joints of the hand.[5]
## Genetics[edit]
Example of autosomal dominant inheritance
Liebenberg Syndrome follows an autosomal dominant mode of inheritance,[4][6] whereby heterozygotes with this mutation express the disease phenotype.
It is caused by a heterozygous mutation to chromosome 5. It involves the inappropriate enhancement of the PITX1 gene due to genetic deletions and chromosome translocations.[5]
PITX1 is a homeobox gene which are genes that regulate proper body structure development. This PT1X gene encodes a transcription factor expressed in hind limbs. When expressed, it causes the formation of hindlimb structures.
Liebenberg Syndrome is a result of one of two different genetic mutations. The first is a deletion upstream of the PITX1 gene on chromosome 5. This deletion includes the H2AFY gene, which is responsible for suppressing an upstream enhancer element known as hs1473. When H2AFY is removed, the enhancer is brought closer to PITX1 and inappropriately enhances it in forelimbs, causing them to adopt hindlimb morphology.[7]
The second mutation that can cause the phenotype for Liebenberg syndrome is a translocation of chromosome 18 and chromosome 5. Translocation mutations are ones that switch parts of non-homologous chromosomes with each other. This move introduces two enhancers from chromosome 18 to move to a position directly upstream of PITX1 on chromosome 5. The enhancers increase transcription of the PITX1 gene and cause patients to develop the same phenotype described above.[7]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (January 2018)
## Treatment[edit]
Surgery is an option to correct some of the morphological changes made by Liebenberg Syndrome. Cases exist where surgery is performed to correct radial deviations and flexion deformities in the wrist. A surgery called a carpectomy has been performed on a patient whereby a surgeon removes the proximal row of the carpal bones.[8] This procedure removes some of the carpal bones to create a more regular wrist function than is observed in people with this condition.
## References[edit]
1. ^ Reference, Genetics Home. "Liebenberg syndrome". Genetics Home Reference. Retrieved 15 March 2019.
2. ^ a b Al-Quattan, Mohammad (2013). "Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics". Gene. 524 (1): 65–71. doi:10.1016/j.gene.2013.03.120. PMID 23587911.
3. ^ Logan M.; Tabin C.J. (1999). "Role of Pitx1 upstream of Tbx4 in specification of hind limb identity". Science. 283 (5408): 1736–1739. Bibcode:1999Sci...283.1736L. doi:10.1126/science.283.5408.1736. PMID 10073939.
4. ^ a b Liebenberg, F., 1973. A pedigree with unusual anomalies of the elbows, wrist, and hands in fine generations. S. Afr. Med. J. 47, 745–747. Accessed October 4, 2015.
5. ^ a b c Mennen, U; et al. (2013). "The Liebenberg syndrome: in depth analysis of the original family". The Journal of Hand Surgery. 39 (9): 919–925. doi:10.1177/1753193413502162. PMID 23940102.
6. ^ Tiberio, G; et al. (2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550)". Journal of Medical Genetics. 37 (7): 548–551. doi:10.1136/jmg.37.7.548. PMC 1734641. PMID 10970192.
7. ^ a b Spielmann, Malte; et al. (2012). "Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus". American Journal of Human Genetics. 91 (4): 629–35. doi:10.1016/j.ajhg.2012.08.014. PMC 3484647. PMID 23022097.
8. ^ Abdel-Ghani, Hisham (2013). "Liebenberg Syndrome: Case Report and Insight Into Molecular Basis". Journal of Hand Surgery.
## External links[edit]
Classification
D
* OMIM: 186550
* MeSH: C566090
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Liebenberg syndrome
|
c1861313
| 8,616 |
wikipedia
|
https://en.wikipedia.org/wiki/Liebenberg_syndrome
| 2021-01-18T19:00:06 |
{"gard": ["966"], "mesh": ["C566090"], "umls": ["C1861313"], "orphanet": ["1275"], "wikidata": ["Q6543864"]}
|
Superior canal dehiscence syndrome
Other namesSSCDS
SpecialtyNeurology
Superior semicircular canal dehiscence syndrome is a set of hearing and balance symptoms, related to a rare medical condition of the inner ear, known as superior canal dehiscence.[1][2][3] The symptoms are caused by a thinning or complete absence of the part of the temporal bone overlying the superior semicircular canal of the vestibular system. There is evidence that this rare defect, or susceptibility, is congenital.[4][5] There are also numerous cases of symptoms arising after physical trauma to the head. It was first described in 1998 by Lloyd B. Minor of Johns Hopkins University in Baltimore.[6]
## Contents
* 1 Symptoms
* 1.1 Symptoms in detail
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Eponym
* 6 References
* 7 External links
## Symptoms[edit]
Superior canal dehiscence (SCD) can affect both hearing and balance to different extents in different people.[citation needed]
Symptoms of SCDS include:
* Autophony – person's own speech or other self-generated noises (e.g. heartbeat, eye movements, creaking joints, chewing) are heard unusually loudly in the affected ear
* Dizziness/ vertigo/ chronic disequilibrium caused by the dysfunction of the superior semicircular canal
* Tullio phenomenon – sound-induced vertigo, disequilibrium or dizziness, nystagmus and oscillopsia
* Pulse-synchronous oscillopsia
* Hyperacusis – the over-sensitivity to sound
* Low-frequency conductive hearing loss
* A feeling of fullness in the affected ear
* Pulsatile tinnitus
* Brain fog
* Fatigue
* Headache/migraine
* Tinnitus – high pitched ringing in the ear
### Symptoms in detail[edit]
* SCDS-related autophony differs greatly in quality and range from the more common form which results from an open, or patulous Eustachian tube through which sufferers of this disorder hear the sound of their own voice and breathing. In contrast, patients with SCDS-related autophony report hearing their own voice as a disturbingly loud and distorted "kazoo-like" sound deep inside the head as if relayed through "a cracked loudspeaker." Additionally they may hear the creaking and cracking of joints, the sound of their footsteps when walking or running, their heartbeat and the sound of chewing and other digestive noises. Some sufferers of this condition experience such a high level of conductive hyperacusis that a tuning fork placed on the ankle will be heard in the affected ear. The bizarre phenomenon of being able to hear the sound of the eyeballs moving in their sockets (e.g. when reading in a quiet room) "like sandpaper on wood" is one of the more distinctive features of this condition and is almost exclusively associated with SCDS.[7]
* Tullio phenomenon, another of the more identifiable symptoms leading to a positive SCD diagnosis is sound-induced loss of balance. Patients showing this symptom may experience a loss of equilibrium, a feeling of motion sickness or even actual nausea, triggered by normal everyday sounds. Although this is often associated with loud noises, volume is not necessarily a factor. Patients describe a wide range of sounds that affect balance: the 'rattle' of a plastic bag; a cashier tossing coins into the register; a telephone ringing; a knock at the door; music; the sound of children playing and even the patient's own voice are typical examples of sounds that can cause a loss of balance when this condition is present, although there are countless others. The presence of Tullio may also mean that involuntary eye movements (nystagmus), sometimes rotational, are set off by sound, giving the sufferer the impression that the world is tipping, clockwise or anticlockwise, depending on the site of the dehiscence. Some patients report this tilt as being as much as 15°. For such persons, a visit to the concert hall or to a noisy playground may seem like being at the epicenter of an earthquake. A change of pressure within the middle ear (for example when flying or nose-blowing) may equally set off a bout of disequilibrium or nystagmus.[citation needed]
* Low-frequency conductive hearing loss is present in many patients with SCDS and is explained by the dehiscence acting as a "third window." Vibrations entering the ear canal and middle ear are then abnormally diverted through the superior semicircular canal and up into the intracranial space where they become absorbed instead of being registered as sound in the hearing center, the cochlea. Due to the difference in resistance between the normal round window and the pathological dehiscence window this hearing loss is more serious in the lower frequencies and may initially be mistaken for otosclerosis. In some patients there is true enhancement of low frequency hearing via bone conducted sound. A clinical sign of this phenomenon is the ability of the patient to hear (not feel) a tuning fork placed upon the ankle bone.
* Pulsatile tinnitus is yet another of the typical symptoms of SCDS and is caused by the gap in the dehiscent bone allowing the normal pulse-related pressure changes within the cranial cavity to enter the inner ear abnormally. These pressure change thus affect the sound of the tinnitus which will be perceived as containing a pulse-synchronized "wave" or "blip" which patients describe as a "swooshing" sound or as being like the chirrup of a cricket or grasshopper.
* Brain fog and fatigue are both common SCDS symptoms and are caused by the brain having to spend an unusual amount of its energy on the simple act of keeping the body in a state of equilibrium when it is constantly receiving confusing signals from the dysfunctional semicircular canal.
* Headache and migraine are also often mentioned by patients showing other symptoms of SCDS due to the body overcompensating for poor hearing in the affected ear by tensing up nearby parts of the face, head, and neck and using them as almost a secondary eardrum.
## Causes[edit]
According to current research, in approximately 2.5% of the general population the bones of the head develop to only 60–70% of their normal thickness in the months following birth. This genetic predisposition may explain why the section of temporal bone separating the superior semicircular canal from the cranial cavity, normally 0.8 mm thick, shows a thickness of only 0.5 mm, making it more fragile and susceptible to damage through physical head trauma or from slow erosion. An explanation for this erosion of the bone has not yet been found.[citation needed]
## Diagnosis[edit]
The presence of dehiscence can be detected by a high definition (0.6 mm or less) coronal CT scan of the temporal bone, currently the most reliable way to distinguish between superior canal dehiscence syndrome (SCDS) and other conditions of the inner ear involving similar symptoms such as Ménière's disease, perilymphatic fistula and cochlea-facial nerve dehiscence.[8][9] Other diagnostic tools include the vestibular evoked myogenic potential or VEMP test, videonystagmography (VNG), electrocochleography (ECOG) and the rotational chair test. An accurate diagnosis is of great significance as unnecessary exploratory middle ear surgery may thus be avoided. Several of the symptoms typical to SCDS (e.g. vertigo and Tullio) may also be present singly or as part of Ménière's disease, sometimes causing the one illness to be confused with the other. There are reported cases of patients being affected by both Ménière's disease and SCDS concurrently.[citation needed]
As SCDS is a very rare and still a relatively unknown condition, obtaining an accurate diagnosis of this distressing (and even disabling) disease may take some time as many health care professionals are not yet aware of its existence and frequently dismiss symptoms as being mental health-related.[citation needed]
## Treatment[edit]
Once diagnosed, the gap in the temporal bone can be repaired by surgical resurfacing of the affected bone or plugging of the superior semicircular canal.[10][11] These techniques are performed by accessing the site of the dehiscence either via a middle fossa craniotomy or via a canal drilled through the transmastoid bone behind the affected ear. Bone cement has been the material most often used, in spite of its tendency to slippage and resorption, and a consequent high failure rate; recently, soft tissue grafts have been substituted.[12]
## Eponym[edit]
Occasionally this disorder has been referred to as Minor's syndrome, after its discoverer, Lloyd B. Minor. However, that eponym has also been given to an unrelated condition, the paralysis and anaesthesia following a spinal injury, which is named after the Russian neurologist, Lazar Salomowitch Minor (1855–1942). In the latter case this term is now nearly obsolete.[13]
## References[edit]
1. ^ Minor LB (January 2000). "Superior canal dehiscence syndrome". The American Journal of Otology. 21 (1): 9–19. doi:10.1016/s0196-0709(00)80105-2. PMID 10651428.
2. ^ Minor, Lloyd B.; Cremer, Phillip D.; Carey, John P.; Santina, Charles C. Della; Streubel, Sven-Olrik; Weg, Noah (2001). "Symptoms and Signs in Superior Canal Dehiscence Syndrome". Annals of the New York Academy of Sciences. 942 (1): 259–273. Bibcode:2001NYASA.942..259M. doi:10.1111/j.1749-6632.2001.tb03751.x. PMID 11710468.
3. ^ Minor LB (October 2005). "Clinical manifestations of superior semicircular canal dehiscence". The Laryngoscope. 115 (10): 1717–27. doi:10.1097/01.mlg.0000178324.55729.b7. PMID 16222184. S2CID 16760670.
4. ^ Murray, Melissa (March 8, 1999). "Old Bone Collection Reveals Basis for Some Dizziness". The Johns Hopkins Gazette. 28 (25).
5. ^ Duffy, Jim (1999). "The Clue in the Old Bones". Hopkins Medical News. Archived from the original on 2016-06-05. Retrieved 2008-01-20.
6. ^ Minor, Lloyd B.; Solomon, David; Zinreich, James S.; Zee, David S. (1 March 1998). "Sound- and/or Pressure-Induced Vertigo Due to Bone Dehiscence of the Superior Semicircular Canal". Archives of Otolaryngology–Head & Neck Surgery. 124 (3): 249–58. doi:10.1001/archotol.124.3.249. PMID 9525507.
7. ^ Albuquerque W, Bronstein AM (September 2004). "'Doctor, I can hear my eyes': report of two cases with different mechanisms". Journal of Neurology, Neurosurgery, and Psychiatry. 75 (9): 1363–4. doi:10.1136/jnnp.2003.030577. PMC 1739236. PMID 15314139.
8. ^ "Symptoms of Superior Canal Dehiscence Syndrome". Johns Hopkins Medicine.
9. ^ Wackym, P. Ashley; Balaban, Carey D.; Zhang, Pengfei; Siker, David A.; Hundal, Jasdeep S. (13 December 2019). "Third Window Syndrome: Surgical Management of Cochlea-Facial Nerve Dehiscence". Frontiers in Neurology. 10: 1281. doi:10.3389/fneur.2019.01281. PMC 6923767. PMID 31920911.
10. ^ "superior semicircular canal dehiscence - superior canal dehiscence syndrome". www.otosurgery.org.[unreliable source?]
11. ^ Kertesz, Thomas R; Shelton, Clough; Wiggins, Richard; Galstonbury, Christine; Layton, Bryan J.; Worthington, Don W.; Harnsberger, H. Ric (October 2001). "Superior semi-circular canal dehiscence: Resurfacing with calcium phosphate bone cement". Australian Journal of Otolaryngology. 4 (3): 167–173.
12. ^ Teixido, Michael; Seymour, Peter E.; Kung, Brian; Sabra, Omar (July 2011). "Transmastoid Middle Fossa Craniotomy Repair of Superior Semicircular Canal Dehiscence Using a Soft Tissue Graft". Otology & Neurotology. 32 (5): 877–881. doi:10.1097/MAO.0b013e3182170e39. PMID 21659938. S2CID 8313147.
13. ^ synd/1691 at Who Named It?
## External links[edit]
* Ward, Bryan K.; Carey, John P.; Minor, Lloyd B. (28 April 2017). "Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years". Frontiers in Neurology. 8: 177. doi:10.3389/fneur.2017.00177. PMC 5408023. PMID 28503164.
Classification
D
* ICD-10: H83.8
External resources
* Orphanet: 420402
* v
* t
* e
Disorders of hearing and balance
Hearing
Symptoms
* Hearing loss
* Excessive response
* Tinnitus
* Hyperacusis
* Phonophobia
Disease
Loss
* Conductive hearing loss
* Otosclerosis
* Superior canal dehiscence
* Sensorineural hearing loss
* Presbycusis
* Cortical deafness
* Nonsyndromic deafness
Other
* Deafblindness
* Wolfram syndrome
* Usher syndrome
* Auditory processing disorder
* Spatial hearing loss
Tests
* Hearing test
* Rinne test
* Tone decay test
* Weber test
* Audiometry
* pure tone
* visual reinforcement
Balance
Symptoms
* Vertigo
* nystagmus
Disease
* Balance disorder
* Peripheral
* Ménière's disease
* Benign paroxysmal positional vertigo
* Labyrinthitis
* Labyrinthine fistula
Tests
* Dix–Hallpike test
* Unterberger test
* Romberg's test
* Vestibulo–ocular reflex
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Superior canal dehiscence syndrome
|
c3275929
| 8,617 |
wikipedia
|
https://en.wikipedia.org/wiki/Superior_canal_dehiscence_syndrome
| 2021-01-18T18:59:56 |
{"gard": ["10993"], "icd-9": ["386.8"], "icd-10": ["H83.8"], "orphanet": ["420402"], "synonyms": ["SCD syndrome"], "wikidata": ["Q685200"]}
|
Basilar invagination
SpecialtyNeurology
Basilar invagination is invagination (infolding) of the base of the skull that occurs when the top of the C2 vertebra migrates upward. It can cause narrowing of the foramen magnum (the opening in the skull where the spinal cord passes through to the brain). It also may press on the lower brainstem.[1]
This is similar to Chiari malformation. That, however, is usually present at birth.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Symptoms[edit]
Symptoms vary depending on whether the spinal cord, brain stem, nerves or their blood supply is affected by the pressure.
Symptoms become apparent when the neck is bent. They include:
* Posterior head pain
* Neck weakness
* Periods of confusion
* Dysarthria (difficulty swallowing or talking due to loss of muscle control)
* Dizziness
* Loss of sensation
* Cranial nerve disturbance
* Loss of the ability to know how joints are positioned
* Lhermitte's sign ('electric shock sensation' down spine and/or to the extremities when the neck is flexed forward)
* Weakness of the arms and legs
* Orthostatic hypotension
* Patients will go into a pool and notice that below their belly button the water is not as cold as it is above.
Complications from this can include hydrocephalus, pseudotumor cerebri or syringomyelia because it blocks the flow of fluid around the brain and spinal cord.
## Causes[edit]
Basilar invagination can be present at birth. If the condition develops after birth, it is usually the result of injury or diseases. If due to injury, about half the time it is caused by vehicle or bicycle accidents; 25% of the time by falls and 10% of the time by recreational activities such as diving accidents.
It also occurs in patients with bone diseases, such as osteomalacia, rheumatoid arthritis, Paget's disease, Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta.
## Diagnosis[edit]
Basilar invagination in an infant with Wolf-Hirschhorn syndrome.
A doctor will base his or her diagnosis on the symptoms the patient has and the results of tests, including:
* An X-ray
* Magnetic resonance imaging (MRI), which usually provides the most information
* Computed tomography (CT) scan [2]
## Treatment[edit]
If there aren't neurological symptoms (such as difficulties moving, loss of sensation, confusion, etc.) and there is no evidence of pressure on the spinal cord, a conservative approach may be taken such as:
* Drugs, such as aspirin, without steroids to relieve inflammation
* Cervical traction, in which the neck is pulled along its length, thus relieving pressure on the spinal cord
* Using a neck collar or cervical-thoracic suit
If there is pressure on the spinal cord or life-threatening symptoms are present, surgery is recommended.
## See also[edit]
* Chiari malformation
* Syringomyelia
* Hydrocephalus
* Rheumatoid arthritis
* Ehlers-Danlos syndrome
* Marfan syndrome
* Dysautonomia
## References[edit]
1. ^ [1]
2. ^ "Archived copy". Archived from the original on 2010-04-11. Retrieved 2009-04-10.CS1 maint: archived copy as title (link)
## External links[edit]
Classification
D
* ICD-10: Q75.8
* OMIM: 109500
* MeSH: C566226
External resources
* Orphanet: 2285
* v
* t
* e
Congenital malformations and deformations of nervous system
Brain
Neural tube defect
* Anencephaly
* Acephaly
* Acrania
* Acalvaria
* Iniencephaly
* Encephalocele
* Chiari malformation
Other
* Microcephaly
* Congenital hydrocephalus
* Dandy–Walker syndrome
* other reduction deformities
* Holoprosencephaly
* Lissencephaly
* Microlissencephaly
* Pachygyria
* Hydranencephaly
* Septo-optic dysplasia
* Megalencephaly
* Hemimegalencephaly
* CNS cyst
* Porencephaly
* Schizencephaly
* Polymicrogyria
* Bilateral frontoparietal polymicrogyria
Spinal cord
Neural tube defect
* Spina bifida
* Rachischisis
Other
* Currarino syndrome
* Diastomatomyelia
* Syringomyelia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Basilar invagination
|
c1862299
| 8,618 |
wikipedia
|
https://en.wikipedia.org/wiki/Basilar_invagination
| 2021-01-18T18:37:01 |
{"mesh": ["C566226"], "umls": ["C1862299"], "orphanet": ["2285"], "wikidata": ["Q4867295"]}
|
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-2 (MRD2) is caused by disruption of the DOCK8 gene (611432) on chromosome 9p24.
Clinical Features
Griggs et al. (2008) reported 2 unrelated patients with mental retardation and developmental disability. One patient was a 55-year-old man with profound mental retardation, no speech, mild dysmorphic features, a history of seizures, and stooped posture. The second patient was a girl with anhidrotic ectodermal dysplasia (ED1; 305100) previously reported by MacDermot and Hulten (1990). She was reported to have delayed speech and psychomotor development, but attended a special school.
Molecular Genetics
Both patients with mental retardation and developmental disability reported by Griggs et al. (2008) had a heterozygous disruption of the DOCK8 gene. The male had a genomic deletion of approximately 230 kb in subtelomeric 9p. The female carried a de novo balanced translocation t(X;9)(q13.1;p24), which also interrupted the EDA gene (300451). Mapping of the critical region shared by the 2 patients showed truncation of the longest isoform of DOCK8.
INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Mental retardation, moderate to profound \- Seizures (in one patient) \- Delayed speech \- Delayed psychomotor development \- Developmental disability LABORATORY ABNORMALITIES \- Balanced translocation t(X,9)(q13.1,p24) in one patient MISCELLANEOUS \- Two patients have been reported (last curated July 2011) MOLECULAR BASIS \- Caused by deletion or disruption of 9p24 including the DOCK8 gene ( 611432 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
|
c3279842
| 8,619 |
omim
|
https://www.omim.org/entry/614113
| 2019-09-22T15:56:28 |
{"doid": ["0070032"], "omim": ["614113"], "orphanet": ["178469"], "synonyms": []}
|
PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
PMM2-CDG
|
c0349653
| 8,620 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79318
| 2021-01-23T18:53:31 |
{"gard": ["9826"], "mesh": ["C535739"], "omim": ["212065"], "umls": ["C0349653"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Ia", "CDG-Ia", "CDG1A", "Carbohydrate deficient glycoprotein syndrome type Ia", "Congenital disorder of glycosylation type 1a", "Congenital disorder of glycosylation type Ia", "Phosphomannomutase 2 deficiency"]}
|
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: "Mucolipidosis type IV" – news · newspapers · books · scholar · JSTOR (April 2008) (Learn how and when to remove this template message)
Mucolipidosis type IV
SpecialtyEndocrinology
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1.[1][2] These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.[3]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
Most patients with ML IV show psychomotor retardation (i.e., delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency resulting from an absence of acid secretion in the stomach, achlorhydria. Achlorhydria in these patients results in an increase in blood gastrin levels. These symptoms typically manifest early in life (within the first year). After disease onset there occurs a period of stability, typically lasting two to three decades during which very little disease progression occurs.[4]
## Pathophysiology[edit]
Mucolipidosis type IV has an autosomal recessive pattern of inheritance.
Mucolipin1 is thought to be localized in endosomes. An important property of mucolipin1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are at least 29 known mutations in MCOLN1, located throughout the gene.[5] Many of the known mutations result in no expression of mucolipin1. Milder mutations, such as ΔF408 and V446L, produce a dysfunctioning form of the cation channel.[6] Mutations that alter only the C-terminal of the protein also result in a mild phenotype of the disorder, usually sparing the brain.[7] ML IV causes affected cells to accumulate auto-fluorescent vacuoles considered to be aberrant lysosomes.[8] Several evidences exist for a defect in both exocytosis and endocytosis.[9] There are conflicting indications of abnormal lysosomal pH in MLIV.[citation needed] It is not yet clear why these abnormalities will cause incomplete development of the brain, achlorhydria, and failure in the maintenance of retinal tissue.
## Diagnosis[edit]
Diagnosis includes genetic testing and Gastrin blood test to check for low iron in the blood.
## Treatment[edit]
There is no specific treatment to this disorder. However, several symptoms may be alleviated. For instance, anemia is treated by iron supplements. Some of the movement deficiencies may be corrected with orthopedic intervention. The corneal clouding can be, at least, temporarily corrected by corneal transplantation. See the equivalent section in the main mucolipidosis article.
## Epidemiology[edit]
Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed as cerebral palsy. In the Ashkenazi Jewish population there are two severe mutations with a higher carrier frequency[10] of 1:90 to 1:100.[11]
## References[edit]
1. ^ Nilius, B.; Owsianik, G.; Voets, T.; Peters, J. A. (2007). "Transient Receptor Potential Cation Channels in Disease". Physiological Reviews. 87 (1): 165–217. doi:10.1152/physrev.00021.2006. PMID 17237345.
2. ^ Sun, M.; Goldin, E; Stahl, S; Falardeau, J. L.; Kennedy, J. C.; Acierno Jr, J. S.; Bove, C; Kaneski, C. R.; Nagle, J; Bromley, M. C.; Colman, M; Schiffmann, R; Slaugenhaupt, S. A. (2000). "Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel". Human Molecular Genetics. 9 (17): 2471–8. doi:10.1093/hmg/9.17.2471. PMID 11030752.
3. ^ Dong, Xian-Ping; Cheng, Xiping; Mills, Eric; Delling, Markus; Wang, Fudi; Kurz, Tino; Xu, Haoxing (2008). "The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel". Nature. 455 (7215): 992–6. Bibcode:2008Natur.455..992D. doi:10.1038/nature07311. PMC 4301259. PMID 18794901.
4. ^ Wakabayashi, K.; Gustafson, A. M.; Sidransky, E.; Goldin, E. (2011). "Mucolipidosis type IV: An update". Molecular Genetics and Metabolism. 104 (3): 206–213. doi:10.1016/j.ymgme.2011.06.006. PMC 3205274. PMID 21763169.
5. ^ Goldin E, Slaugenhaupt SA, Smith J, Schiffmann R (2005) Mucolipidosis IV, GeneReviews at GeneTests: Medical Genetics Information Resource https://www.ncbi.nlm.nih.gov/books/NBK1214/
6. ^ Altarescu, G.; Sun, M.; Moore, D. F.; Smith, J. A.; Wiggs, E. A.; Solomon, B. I.; Patronas, N. J.; Frei, K. P.; Gupta, S.; Kaneski, C. R.; Quarrell, O. W.; Slaugenhaupt, S. A.; Goldin, E.; Schiffmann, R. (2002). "The neurogenetics of mucolipidosis type IV". Neurology. 59 (3): 306–13. doi:10.1212/wnl.59.3.306. PMID 12182165.
7. ^ Goldin, E.; Caruso, R. C.; Benko, W.; Kaneski, C. R.; Stahl, S.; Schiffmann, R. (2008). "Isolated Ocular Disease is Associated with Decreased Mucolipin-1 Channel Conductance". Investigative Ophthalmology & Visual Science. 49 (7): 3134–42. doi:10.1167/iovs.07-1649. PMC 5267708. PMID 18326692.
8. ^ Goldin, Ehud; Blanchette-Mackie, E Joan; Dwyer, Nancy K; Pentchev, Peter G; Brady, Roscoe O (1995). "Cultured Skin Fibroblasts Derived from Patients with Mucolipidosis 4 Are Auto-Fluorescent". Pediatric Research. 37 (6): 687–92. doi:10.1203/00006450-199506000-00003. PMID 7651750.
9. ^ Chen, C. S.; Bach, G; Pagano, R. E. (1998). "Abnormal transport along the lysosomal pathway in Mucolipidosis, type IV disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (11): 6373–6378. Bibcode:1998PNAS...95.6373C. doi:10.1073/pnas.95.11.6373. PMC 27719. PMID 9600972.
10. ^ Bach, Gideon; Webb, Michael B.T.; Bargal, Ruth; Zeigler, Marcia; Ekstein, Joseph (2005). "The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations". Human Mutation. 26 (6): 591. doi:10.1002/humu.9385. PMID 16287144.
11. ^ Bargal, Ruth; Avidan, Nili; Olender, Tzvia; Ben Asher, Edna; Zeigler, Marcia; Raas-Rothschild, Annick; Frumkin, Ayala; Ben-Yoseph, Omer; Friedlender, Yechiel; Lancet, Doron; Bach, Gideon (2001). "Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population". Human Mutation. 17 (5): 397–402. doi:10.1002/humu.1115. PMID 11317355.
## External links[edit]
Classification
D
* ICD-10: E75.1
* OMIM: 252650
* MeSH: D009081
* DiseasesDB: 32693
External resources
* GeneReviews: Mucolipidosis IV
* Mucolipidosis type 4 at NIH's Office of Rare Diseases
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism
* Dolichol kinase deficiency
* Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
* Mucolipidosis: I-cell disease (ML II)
* Pseudo-Hurler polydystrophy (ML III)
Catabolism
* Aspartylglucosaminuria
* Fucosidosis
* mannosidosis
* Alpha-mannosidosis
* Beta-mannosidosis
* Sialidosis
* Schindler disease
Other
* solute carrier family (Salla disease)
* Galactosialidosis
* v
* t
* e
Diseases of ion channels
Calcium channel
Voltage-gated
* CACNA1A
* Familial hemiplegic migraine 1
* Episodic ataxia 2
* Spinocerebellar ataxia type-6
* CACNA1C
* Timothy syndrome
* Brugada syndrome 3
* Long QT syndrome 8
* CACNA1F
* Ocular albinism 2
* CSNB2A
* CACNA1S
* Hypokalemic periodic paralysis 1
* Thyrotoxic periodic paralysis 1
* CACNB2
* Brugada syndrome 4
Ligand gated
* RYR1
* Malignant hyperthermia
* Central core disease
* RYR2
* CPVT1
* ARVD2
Sodium channel
Voltage-gated
* SCN1A
* Familial hemiplegic migraine 3
* GEFS+ 2
* Febrile seizure 3A
* SCN1B
* Brugada syndrome 6
* GEFS+ 1
* SCN4A
* Hypokalemic periodic paralysis 2
* Hyperkalemic periodic paralysis
* Paramyotonia congenita
* Potassium-aggravated myotonia
* SCN4B
* Long QT syndrome 10
* SCN5A
* Brugada syndrome 1
* Long QT syndrome 3
* SCN9A
* Erythromelalgia
* Febrile seizure 3B
* Paroxysmal extreme pain disorder
* Congenital insensitivity to pain
Constitutively active
* SCNN1B/SCNN1G
* Liddle's syndrome
* SCNN1A/SCNN1B/SCNN1G
* Pseudohypoaldosteronism 1AR
Potassium channel
Voltage-gated
* KCNA1
* Episodic ataxia 1
* KCNA5
* Familial atrial fibrillation 7
* KCNC3
* Spinocerebellar ataxia type-13
* KCNE1
* Jervell and Lange-Nielsen syndrome
* Long QT syndrome 5
* KCNE2
* Long QT syndrome 6
* KCNE3
* Brugada syndrome 5
* KCNH2
* Short QT syndrome
* KCNQ1
* Jervell and Lange-Nielsen syndrome
* Romano–Ward syndrome
* Short QT syndrome
* Long QT syndrome 1
* Familial atrial fibrillation 3
* KCNQ2
* BFNS1
Inward-rectifier
* KCNJ1
* Bartter syndrome 2
* KCNJ2
* Andersen–Tawil syndrome
* Long QT syndrome 7
* Short QT syndrome
* KCNJ11
* TNDM3
* KCNJ18
* Thyrotoxic periodic paralysis 2
Chloride channel
* CFTR
* Cystic fibrosis
* Congenital absence of the vas deferens
* CLCN1
* Thomsen disease
* Myotonia congenita
* CLCN5
* Dent's disease
* CLCN7
* Osteopetrosis A2, B4
* BEST1
* Vitelliform macular dystrophy
* CLCNKB
* Bartter syndrome 3
TRP channel
* TRPC6
* FSGS2
* TRPML1
* Mucolipidosis type IV
Connexin
* GJA1
* Oculodentodigital dysplasia
* Hallermann–Streiff syndrome
* Hypoplastic left heart syndrome
* GJB1
* Charcot–Marie–Tooth disease X1
* GJB2
* Keratitis–ichthyosis–deafness syndrome
* Ichthyosis hystrix
* Bart–Pumphrey syndrome
* Vohwinkel syndrome)
* GJB3/GJB4
* Erythrokeratodermia variabilis
* Progressive symmetric erythrokeratodermia
* GJB6
* Clouston's hidrotic ectodermal dysplasia
Porin
* AQP2
* Nephrogenic diabetes insipidus 2
See also: ion channels
* v
* t
* e
Lysosomal storage diseases: Inborn errors of lipid metabolism (Lipid storage disorders)
Sphingolipidoses
(to ceramide)
From ganglioside
(gangliosidoses)
* Ganglioside: GM1 gangliosidoses
* GM2 gangliosidoses (Sandhoff disease
* Tay–Sachs disease
* AB variant)
From globoside
* Globotriaosylceramide: Fabry's disease
From sphingomyelin
* Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
* type C)
* Glucocerebroside: Gaucher's disease
From sulfatide
(sulfatidoses
* leukodystrophy)
* Sulfatide: Metachromatic leukodystrophy
* Multiple sulfatase deficiency
* Galactocerebroside: Krabbe disease
To sphingosine
* Ceramide: Farber disease
NCL
* Infantile
* Jansky–Bielschowsky disease
* Batten disease
Other
* Cerebrotendineous xanthomatosis
* Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
* Sea-blue histiocytosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Mucolipidosis type IV
|
c0238286
| 8,621 |
wikipedia
|
https://en.wikipedia.org/wiki/Mucolipidosis_type_IV
| 2021-01-18T18:55:07 |
{"gard": ["94"], "mesh": ["D009081"], "umls": ["C0238286"], "icd-10": ["E75.1"], "orphanet": ["578"], "wikidata": ["Q931538"]}
|
Drug intolerance or drug sensitivity refers to an inability to tolerate the adverse effects of a medication, generally at therapeutic or subtherapeutic doses. Conversely, a patient is said to be "tolerating" a drug when they can tolerate its adverse effects. It is not to be confused with a drug allergy, which is a form of drug intolerance, but requires an immune-mediated component. It is also not to be confused with drug tolerance ("drug resistance," or tachyphylaxis) which refers to a lack of adverse effects even at higher than average doses. Some instances of drug intolerance are known to result from genetic variations in drug metabolism.
Venn Diagram for Drug Intolerance
## Contents
* 1 Pathophysiology
* 2 Examples of drug sensitivity
* 3 Analgesic intolerance
* 4 See also
* 5 References
## Pathophysiology[edit]
Drugs in systemic circulation have a certain concentration in the blood, which serves as a surrogate marker for how much drug will be delivered throughout the body (how much drug the rest of the body will "see"). There exists a minimum concentration of drug within the blood that will give rise to the intended therapeutic effect (minimum effective concentration, MEC), as well as a minimum concentration of drug that will give rise to an unintended adverse drug event (minimum toxic concentration, MTC). The difference between these two values is generally referred to as the therapeutic window. Different drugs have different therapeutic windows, and different people will have different MECs and MTCs for a given drug. If someone has a very low MTC for a drug, they are likely to experience adverse effects at drug concentrations lower than what it would take to produce the same adverse effects in the general populace; thus, the individual will experience significant toxicity at a dose that is otherwise considered "normal" for the average person. This individual will be considered "intolerant" to that drug.
There are a variety of factors that can affect the MTC, which is often the subject of clinical pharmacokinetics. Variations in MTC can occur at any point in the ADME (absorption, distribution, metabolism, and excretion) process. For example, a patient could possess a genetic defect in a drug metabolizing enzyme in the cytochrome P450 superfamily. While most individuals will possess the effective metabolizing machinery, a person with a defect will have a difficult time trying to clear the drug from their system. Thus, the drug will accumulate within the blood to higher-than-expected concentrations, reaching a MTC at a dose that would otherwise be considered normal for the average person. In other words, in a person that is intolerant to a medication, it is possible for a dose of 10 mg to "feel" like a dose of 100 mg, resulting in an overdose—a "normal" dose can be a "toxic" dose in these individuals, leading to clinically significant effects.
There is also an aspect of drug intolerance that is subjective. Just as different people have different pain tolerances, so too do people have different tolerances for dealing with the adverse effects from their medications. For example, while opioid-induced constipation may be tolerable to some individuals, other people may stop taking an opioid due to the unpleasantness of the constipation even if it brings them significant pain relief.
## Examples of drug sensitivity[edit]
* Tinnitus after a normal dose of aspirin
* Aspirin-exacerbated respiratory disease[1]
* Liver failure (possibly also kidney failure) after a normal dose of acetaminophen
Fatal poisoning can be caused to a breastfed newborn baby due to normal use of codeine by the mother.
* Fatal poisoning in a breastfed newborn baby due to normal use of codeine by the mother.[2]
* Muscle pain or weakness due to statin therapy[3]
## Analgesic intolerance[edit]
Intolerance to analgesics, particularly NSAIDs, is relatively common. It is thought that a variation in the metabolism of arachidonic acid is responsible for the intolerance. Symptoms include chronic rhinosinusitis with nasal polyps, asthma, gastrointestinal ulcers, angioedema, and urticaria.[4]
## See also[edit]
* Adverse drug reaction
* Contraindication
* DRESS syndrome (drug hypersensitivity syndrome)
* Drug tolerance
* Food intolerance
## References[edit]
1. ^ Jennedy, Joshua; Stoner, Ashley; Borrish, Larry (2016). "Aspirin-exacerbated respiratory disease: Prevalence, diagnosis, treatment, and considerations for the future". Am J Rhinol Allergy. 30 (6): 407–413. doi:10.2500/ajra.2016.30.4370. PMC 5108840. PMID 28124651.
2. ^ Madadi P, Koren G, Cairns J, et al. (January 2007). "Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine". Can Fam Physician. 53 (1): 33–5. PMC 1952551. PMID 17872605.
3. ^ Backes, James; Ruisinger, Janelle; Gibson, Cheryl; Moriarty, Patrick (2017). "Statin-associated muscle symptoms--Managing the highly intolerant". Journal of Clinical Lipidology. 11: 24–33. doi:10.1016/j.jacl.2017.01.006. PMID 28391891.
4. ^ Förster U, Olze H (April 2008). "[Analgesic intolerance (AI). Key position of ENT physicians for early detection of this condition]". HNO (in German). 56 (4): 443–50, quiz 451. doi:10.1007/s00106-008-1701-6. PMID 18389300.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Drug intolerance
|
c0277585
| 8,622 |
wikipedia
|
https://en.wikipedia.org/wiki/Drug_intolerance
| 2021-01-18T18:30:03 |
{"wikidata": ["Q1671531"]}
|
Reactive perforating collagenosis
SpecialtyDermatology
Reactive perforating collagenosis is a rare, familial, nonpuritic skin disorder characterized by papules that grow in a diameter of 4 to 6mm and develop a central area of umbilication to which keratinous material is lodged.[1][2] The cause of reactive perforating collagenosis is unknown.
## See also[edit]
* Elastosis perforans serpiginosa
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 510. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-10: L87.1 (ILDS L87.100)
* DiseasesDB: 31375
* 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 condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Reactive perforating collagenosis
|
c0263419
| 8,623 |
wikipedia
|
https://en.wikipedia.org/wiki/Reactive_perforating_collagenosis
| 2021-01-18T18:37:24 |
{"umls": ["C0263419"], "icd-10": ["L87.1", "L87.100"], "wikidata": ["Q7300317"]}
|
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
## Epidemiology
Around 50 cases of pure distal monosomy 10p have been reported.
## Clinical description
Distal monosomy 10p encompassing the 10p13 band is associated with cardiac malformations and immune anomalies that overlap with the anomalies reported in the deletion 22q11 syndrome (DiGeorge syndrome/velocardiofacial syndrome spectrum (DGS/VCFS); see this term) with hypoparathyroidism, hypocalcemia, congenital conotruncal heart defects, thymus hypoplasia leading to T-cell deficiency and intellectual deficit. More than 25 patients have been reported with del(10)(p13). In addition to the anomalies related to the DiGeorge syndrome (e.g. conotruncal malformation with thymic hypoplasia), these patients often show an abnormally shaped skull, microcephaly, a long face, high forehead, broad nasal bridge, downslanting palpebral fissures, anteverted nares, hand and foot abnormalities, genitourinary anomalies, hearing loss and severe psychomotor retardation, resulting in a clinical picture that clearly differs from that of the classic 22q11 deletion syndrome. However, due to the similarities in the malformations observed in the two syndromes, del(10)(p13) is referred to as DGS2. The critical region for DGS2 has been mapped to within a 1cM interval in 10p13 which contains the CUGBP2 gene, a candidate gene for developmental heart defects. Smaller deletions involving the region 10p14-pter have been described in < than 10 patients. Some of these patients exhibited the triad: Hypoparathyroidism, sensorineural Deafness, and Renal anomaly (HDR syndrome; see this term). Haploinsufficiency for the trans-acting T-cell-specific transcription factor GATA-3 (encoded by the GATA3 gene, and mapped to the 10p14-pter region) is responsible for this phenotype. Pure subtelomeric deletions involving 10p15-ter are very rare (< 6 children reported so far).
## Etiology
The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation.
## Diagnostic methods
Diagnosis requires cytogenetic analysis and molecular characterization and should include a search for a translocation because deletion may be the result of transmission of a derivative chromosome.
## Differential diagnosis
The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype.
## Antenatal diagnosis
Prenatal diagnosis is feasible and genetic counseling should be proposed and depends on the cytogenetic rearrangement responsible for the deletion (de novo or translocation).
## Management and treatment
Management of 10p monosomy includes a comprehensive evaluation of the major clinical criteria: developmental delay, feeding difficulties, hypocalcemia, deafness, cardiac defects, and recurrent infections. Pediatricians, neurologists, nephrologists and endocrinologists should be involved as appropriate. Developmental assessments with speech, physical and occupational therapists are required.
## Prognosis
The prognosis is variable, depending on the malformations associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Distal monosomy 10p
|
c1832431
| 8,624 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1580
| 2021-01-23T18:19:57 |
{"gard": ["1323"], "mesh": ["C563337"], "omim": ["601362"], "umls": ["C1832431"], "icd-10": ["Q93.5"], "synonyms": ["Distal 10p deletion", "Monosomy 10pter", "Telomeric deletion 10p"]}
|
Botswana is experiencing one of the most severe HIV/AIDS epidemics in the world. The national HIV prevalence rate among adults ages 15 to 49 is 24.8 percent, which is the third highest in the world, behind Lesotho and Eswatini.[1] HIV/AIDS threatens the many developmental gains Botswana has achieved since its independence in 1966, including economic growth, political stability, a rise in life expectancy, and the establishment of functioning public educational and health care systems.
The prevalence and impact of HIV/AIDS in Botswana is notoriously hard to estimate. For example, it was in 2006 calculated that high HIV infection rates should cause slight annual population decline.[2] However the 2011 census showed robust population growth averaging 1.9% per year since the previous census in 2001.[3]
## Contents
* 1 Groups most affected by HIV/AIDS in Botswana
* 2 Prevalence
* 3 Efforts to control
* 4 See also
* 5 References
## Groups most affected by HIV/AIDS in Botswana[edit]
* Women
* Young people
* Female sex workers
* Bisexual and homosexual men
* Prisoners
## Prevalence[edit]
Botswana is in general well-equipped and with strong infrastructure to test the population for HIV, meaning the level of contamination may in fact be on par with other African nations, whilst being reported as being the nation with the second highest HIV prevalence rates in the world.[4] The primary mode of transmission is heterosexual contact, with the military and young women at higher risk of HIV infection than other sectors of the population. Young women (ages 15–24) who have HIV in Botswana outnumber young men with HIV by more than two-to-one.[1] The national incidence rate is 1.5 per cent, or more than 15,000 new infections per year.[5] HIV infection rates vary by geographical region: They are highest in cities, lower in towns, and lowest in villages. Extended families and communities have exhibited resourcefulness and generosity in their willingness to absorb and care for orphaned children, but this capacity is being exhausted, especially as the current generation of grandparents begins to die.[6] Although the country has been somewhat effective in fighting HIV, it remains particularly prevalent in eastern regions such as Bobirwa and Selebi Phikwe, where the prevalence remains as high as 40%.[7]
## Efforts to control[edit]
Following the first reported case of HIV in Botswana in 1985, the country's response was mainly focused on screening blood to eliminate the risk of transmission through transfusion.[1] Public spending on tackling HIV/AIDS was minimal by today's standards and remained so until 1997. Consequently, while life expectancy in Botswana stood at 65 years in 1990, it was estimated to have fallen to 57 years by 1997 and to just 35 years in 2005.[8] However, after the 2011 census life expectancy was revised upwards to 54.5 years.[9] In 1997, the government of Quett Masire outlined a 'national vision' (Vision 2016) to outline the country's long-term aims. It stated that "By the year 2016, the spread of the HIV virus that causes AIDS will have stopped, so that there will be no new infections by the virus in that year."[10]
Since 1997, the government has been significantly more proactive in combating the epidemic. Under the governments of Festus Mogae, a programme was introduced in 1999 for the Prevention of Mother-to-Child Transmission (PMTCT). In August 2000, the Gates Foundation, with the Harvard AIDS Initiative and the pharmaceutical companies Merck and Bristol-Myers Squibb, started an HIV/AIDS treatment program, working with the government. The program's target was to treat every citizen of Botswana infected with HIV/AIDS. In addition, anti-retrovirals (ARVs) would be given out to those who were at an advanced stage of the disease. However, Botswana lacked adequate health-care workers and a stable medical infrastructure to implement the program.[11] In 2003, the government introduced the first National Strategic Framework against AIDS. In 2004, with adult HIV prevalence at nearly 40 percent nationwide,[12] the government introduced routine HIV testing for citizens.[13] By 2008, spending on Botswana's response to HIV/AIDS had risen to US$340 million, of which approximately two-thirds was provided by Botswana's central government (a significantly higher proportion than in other sub-Saharan nations).[1]
In 2011, the Ministry of Education introduced new HIV/AIDS education technology for schools. The TeachAIDS prevention software, developed at Stanford University, was distributed to every primary, secondary, and tertiary educational institution in the country, reaching all learners from 6 to 24 years of age.[14] There is evidence that these policies are having some impact, for example HIV prevalence among 15- to 19-year-olds fell from 24.7 percent in 2001 to 13.2 percent in 2009.[15] However, at the household level, families face increasing health expenditures to meet the needs of family members with HIV/AIDS. At the same time, they are experiencing loss of income as productive family members become sick and die.
Botswana's workforce is being depleted as many productive adults develop AIDS and are no longer able to work. According to the US State Department, between 1999 and 2005 Botswana lost approximately 17 percent of its health care workforce due to AIDS.[16] By 2020, it has been projected that the loss in agricultural labour force due to AIDS could be more than 23 percent.[17]
## See also[edit]
* AIDS pandemic
* HIV/AIDS in Africa
* Joint United Nations Programme on HIV/AIDS
## References[edit]
1. ^ a b c d "HIV & Aids in Botswana". AVERT International HIV & Aids Charity. Retrieved 15 January 2013.
2. ^ Central Intelligence Agency (2007). "Botswana". The World Factbook 2007. Retrieved 18 February 2014.
3. ^ 2011 Population & Housing Census Preliminary Results Brief
4. ^ Kandala, Ngianga-Bakwin; Campbell, Eugene K; Rakgoasi, Serai Dan; Madi-Segwagwe, Banyana C; Fako, Thabo T (2012-07-18). "The geography of HIV/AIDS prevalence rates in Botswana". HIV/AIDS (Auckland, N.Z.). 4: 95–102. doi:10.2147/HIV.S30537. ISSN 1179-1373. PMC 3411371. PMID 22870041.
5. ^ Edwin, Patricia (18 October 2012). "Botswana falls short in AIDS fight". MmegiOnline. Retrieved 19 October 2012.
6. ^ "2008 Country Profile: Botswana". U.S. State Department. 2008. This article incorporates text from this source, which is in the public domain.
7. ^ "Botswana's stunning achievement against AIDS". National Public Radio. Retrieved 15 January 2013.
8. ^ "Botswana 2012 Global AIDS response report" (PDF). UN AIDS. Retrieved 15 January 2013.
9. ^ Central Intelligence Agency (2014). "Botswana". The World Factbook. Retrieved 18 February 2014.
10. ^ "Vision 2016" (PDF). Botswana National Vision Council. Retrieved 15 January 2013.
11. ^ Garrett, Laurie (Jan–Feb 2007). "The Challenge of Global Health". Foreign Affairs. 86 (1): 14–38.
12. ^ "Hope Out of Pain: Botswana's AIDS story". BBC. Retrieved 15 January 2013.
13. ^ "Progress Report of the National Response to the 2011 Declaration of the Commitments on HIV and AIDS" (PDF). National AIDS Coordinating Agency. Retrieved 15 January 2013.
14. ^ "UNICEF funds TeachAIDS work in Botswana". TeachAIDS. 2 June 2010. Retrieved 24 January 2011.
15. ^ "Country spotlight Botswana: 'the AIDS response has been catalytic in strengthening our health system'". UN AIDS. Retrieved 13 January 2013.
16. ^ "2007 Country Profile: Botswana" (PDF).
17. ^ "The impact of HIV/AIDS on agriculture and food security". www.fao.org.
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* List of countries by HIV/AIDS adult prevalence rate
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
HIV/AIDS in Botswana
|
None
| 8,625 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Botswana
| 2021-01-18T18:59:04 |
{"wikidata": ["Q5629825"]}
|
Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma.
During an episode, people with carbonic anhydrase VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base balance in the blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood (hypoglycemia), and reduced production of a substance called bicarbonate in the liver. These imbalances lead to the signs and symptoms that occur during the episodes.
People with carbonic anhydrase VA deficiency typically first experience episodes of the disorder by age 2. These episodes may be triggered by going without food (fasting) for longer than usual between meals or when energy demands are increased, such as during illness. Between episodes, children with carbonic anhydrase VA deficiency are generally healthy, and more than half have no further episodes after the first one. Some affected children have mildly delayed development or learning disabilities, while others develop normally for their age.
The risk of metabolic crisis and acute encephalopathy is thought to decrease after childhood. Because of the small number of people with carbonic anhydrase VA deficiency who have come to medical attention, the effects of this disorder in adults are not well understood.
## Frequency
The prevalence of carbonic anhydrase VA deficiency is unknown. Only a small number of affected individuals have been described in the medical literature. However, the disorder may be underdiagnosed because the metabolic crisis often does not recur after the first episode; researchers suspect that some babies diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA deficiency.
## Causes
Carbonic anhydrase VA deficiency is caused by mutations in the CA5A gene. This gene provides instructions for making the carbonic anhydrase VA enzyme, which helps convert carbon dioxide to a substance called bicarbonate. Bicarbonate is necessary to maintain the proper acid-base balance in the body, which is necessary for most biological reactions to proceed properly. The carbonic anhydrase VA enzyme is particularly important in the liver, where it provides bicarbonate needed by four enzymes in the energy-producing centers of cells (mitochondria). These enzymes help control the amount of various other substances in the body.
Mutations in the CA5A gene result in absent or impaired carbonic anhydrase VA enzyme function, leading to reduced bicarbonate production. Insufficient bicarbonate results in impaired control of acid-base balance and reduces the activity of the four affected mitochondrial enzymes, resulting in the various biochemical abnormalities associated with carbonic anhydrase VA deficiency. These imbalances cause acute encephalopathy and the other signs and symptoms associated with this disorder. Studies suggest that a related enzyme produced from the CA5B gene may increasingly compensate for the lack of carbonic anhydrase VA as affected individuals mature, which may result in a reduced risk of metabolic crisis and acute encephalopathy after childhood.
### Learn more about the gene associated with Carbonic anhydrase VA deficiency
* CA5A
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Some people who have two copies of the altered gene never develop the condition, a situation known as reduced penetrance. Researchers suggest that if people with these mutations get through the vulnerable period of childhood without having an episode of encephalopathy, they may never show signs or symptoms of 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
*[lit.]: literal translation
|
Carbonic anhydrase VA deficiency
|
c3810404
| 8,626 |
medlineplus
|
https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency/
| 2021-01-27T08:25:24 |
{"omim": ["615751"], "synonyms": []}
|
Autoimmune hypophysitis
Other namesLymphocytic hypophysitis
SpecialtyEndocrinology
Autoimmune hypophysitis is defined as inflammation of the pituitary gland due to autoimmunity.
## Contents
* 1 Signs and symptoms
* 1.1 Antibodies
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 History
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
Autoimmune hypophysitis can lead to deficiencies in one or more pituitary hormones, causing central diabetes insipidus if the posterior pituitary gland is affected as well as central adrenal insufficiency and central hypothyroidism if the anterior pituitary gland is affected. [1]The symptoms depend on what part of the pituitary is affected. Lymphocytic adenohypophysitis (LAH) occurs when the anterior pituitary cells are affected by autoimmune inflammation resulting in either no symptoms, adrenal insufficiency (if the ACTH producing cells are affected), hypothyroidism (if the TSH producing cells are damaged), or hypogonadism (if the LH and/or FSH producing cells are involved). In some cases, the presence of inflammation within the pituitary gland leads to interruption of dopamine flow from the hypothalamus into the pituitary causing high levels of the hormone prolactin and, often as a consequence, milk production from the breasts (in older girls and women). Lymphocytic Infundibuloneurohypophysitis (LINH) occurs when the posterior pituitary is affected resulting in diabetes insipidus. Both LAH and LINH may also lead to symptoms of an intracranial mass such as headache or disturbance of vision, i.e. bitemporal hemianopia. The pituitary produces multiple hormones relating to various metabolic functions. Sufficiently low production of certain pituitary hormones can be fatal resulting in the failure of the thyroid or adrenal glands.[citation needed] Common symptoms include nausea, vomiting, fatigue, loss of libido, amenorrhea, and dizziness. [2] It is estimated that, typically, it takes from 12 to 40 years for autoimmune destruction to present symptoms.[3] However, there have been cases of isolated attacks as a result of drug reactions (i.e., use of blocking antibody ipilimumab)[4][5] or idiopathic events that have presented symptoms which may disappear after relatively short term treatment (i.e., 1 year on corticoids or other immune suppressants).[6] However, more rapid development of the disorder is the rule when it occurs during, or shortly after, pregnancy (even after miscarriage or abortion). Indeed, autoimmune hypophysitis occurs more commonly during and shortly after pregnancy than at any other time.[7]
### Antibodies[edit]
80% of patients with pituitary antibodies also have antibodies to thyroid gland or its hormones.[3] Likewise, 20% of autoimmune thyroid patients also have pituitary antibodies.[8] It follows that a subset of thyroid patients may have a disease related to autoimmune hypophysitis. Recent research has focused on a defect at the CTLA-4 gene which, coupled with other factors, may result in autoimmunity primarily focusing on certain endocrine glands including the pituitary and thyroid.[3]
## Diagnosis[edit]
Lymphocytic hypophysitis continues to be a diagnosis of exclusion, and histopathology with tissue biopsy is needed for a definitive diagnosis.[3] However, clinical, laboratory data, and imaging can all help with the diagnosis.[8] First and foremost, patients present with symptoms of hypopituitarism and must undergo pituitary hormone function evaluation. [9] Biopsy is the only means of accurate diagnosis as no autoantigen has been discovered.[8][10] Biopsy of the pituitary gland is not easily performed with safety as it sits under the brain, however, a test does exist to detect antibodies to the pituitary without biopsy: autoantibodies to M(r) 49,000 pituitary cytosolic protein may represent markers for an immunological process affecting the pituitary gland.[3] Tests for normal pituitary gland hormone production tend to be expensive and in some cases difficult to administer. In addition, certain hormone levels vary largely throughout the day and in response to metabolic factors, making abnormal levels difficult to calibrate—further hampering diagnosis.[11][12][13][14][15][16] Assessment for other autoimmune and inflammatory diseases should also be performed by obtaining complete blood count, complete metabolic panel, c-reactive protein, erythrocyte sedimentation rate, antinuclear antibody, and lupus antibodies at the very least. Gadolinium-enhanced MRI of the pituitary is the imagining of choice as well, and it is important to distinguish lymphocytic hypophysitis from a pituitary adenoma. [17]
## Treatment[edit]
Inflammation resolves usually after several months of glucocorticoid treatment[citation needed] For those that show no improvement with corticosteroids or have relapsed after treatment with corticosteroids, immunosuppressive medications such as methotrexate, azathioprine, and cyclosporine can be used as well. There have also been some cases where dopamine agonists such as cabergoline/bromocriptine have also been successfully used in those with hyperprolactinemia due to pituitary inflammation. Surgery is only an option for those suffering from visual problems/ophthalmoplegia, have a mass like an effect from compression of nearby structures, or for those that require histology for diagnosis. [18]
## Epidemiology[edit]
A large scale study on cadavers done in Sweden, performed biopsies on hundreds of pituitary glands. The study indicated that perhaps as much as 5% of the population experiences some amount of autoimmune pituitary destruction. It is further hypothesized that perhaps half that many show, or may experience, clinical manifestations.[citation needed] The prevalence of all the types of hypophysitis is low, with an incidence of approximately 1 in 9 million. However, it is thought that this may be an underestimate, especially due to the recent use of immune checkpoint inhibitors for cancer treatments, which have endocrine side effects affecting the pituitary gland. [19] Although cases have been reported in children and the elderly, the mean age of diagnosis for men is 44.7 years, and the mean age of diagnosis for women is 34 years.[20]
## History[edit]
Autoimmune attack of the pituitary gland resulting in reduced hormone production was first discovered as a result of an autopsy in 1962. The autopsy described destruction of the pituitary and thyroid consistent with autoimmune attack and included atrophy of the adrenal glands.[21] As magnetic resonance imaging became more available diagnosis increased dramatically.[21] At this time it is believed that the disease is far more prevalent than is diagnosed.[8] Nevertheless, autoimmune hypophysitis is frequently referred to as a rare disease and the most recent estimates as to its prevalence give it a value of around 5 per million.[22]
## See also[edit]
* Hypophysitis
* Hypopituitarism
* Pituitary disease
## References[edit]
1. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
2. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
3. ^ a b c d Strömberg S, Crock P, Lernmark A, Hulting AL (1998). "Pituitary autoantibodies in patients with hypopituitarism and their relatives". J. Endocrinol. 157 (3): 475–80. doi:10.1677/joe.0.1570475. PMID 9691980.
4. ^ Phan GQ, Yang JC, Sherry RM, Hwu P, Topalian SL, Schwartzentruber DJ, Restifo NP, Haworth LR, Seipp CA, Freezer LJ, Morton KE, Mavroukakis SA, Duray PH, Steinberg SM, Allison JP, Davis TA, Rosenberg SA (2003). "Cancer regression and autoimmunity induced by cytotoxic T lymphocyte-associated antigen 4 blockade in patients with metastatic melanoma". Proc. Natl. Acad. Sci. U.S.A. 100 (14): 8372–7. Bibcode:2003PNAS..100.8372P. doi:10.1073/pnas.1533209100. PMC 166236. PMID 12826605.
5. ^ Hepatitis Weekley, Autoimmune Diseases, "Cytotoxic Antigen Induces Hypophysitis in Cancer Patients," 2006-1-9;
see also, Weston SN, Weston CF (January 2000). "The mysterious case of the lost pituitary: amiodarone-induced hypothyroidism". Hosp Med. 61 (1): 64–5. doi:10.12968/hosp.2000.61.1.1869. PMID 10735160.
6. ^ Minakshi B, Alok S, Hillol KP (2005). "Lymphocytic hypophysitis presenting as pituitary apoplexy in a male". Neurol India. 53 (3): 363–4. doi:10.4103/0028-3886.16948. PMID 16230817.
7. ^ Foyouzi, N (February 2011). "Lymphocytic adenohypophysitis". Obstetrical & Gynecological Survey. 66 (2): 109–13. doi:10.1097/ogx.0b013e31821d4047. PMID 21592417. S2CID 30199333.
8. ^ a b c Caturegli, P (2007). "Autoimmune hypophysitis: an underestimated disease in search of its autoantigen(s)". J. Clin. Endocrinol. Metab. 92 (6): 2038–40. doi:10.1210/jc.2007-0808. PMID 17554056.
9. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
10. ^ Crock, Patricia A., et al., Pituitary autoantibodies, Neuroendocrinology, Current Opinion in Endocrinology & Diabetes, 13(4):344-350, August 2006.
11. ^ Soule SG, Fahie-Wilson M, Tomlinson S (February 1996). "Failure of the short ACTH test to unequivocally diagnose long-standing symptomatic secondary hypoadrenalism". Clin. Endocrinol. 44 (2): 137–40. doi:10.1046/j.1365-2265.1996.540363.x. PMID 8849565. S2CID 37708979.
12. ^ Maghnie M, Uga E, Temporini F, Di Iorgi N, Secco A, Tinelli C, Papalia A, Casini MR, Loche S (May 2005). "Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests". Eur. J. Endocrinol. 152 (5): 735–41. doi:10.1530/eje.1.01911. PMID 15879359.
13. ^ Clayton, Richard. "EVALUATION OF PATIENTS WITH PITUITARY/ HYPOTHALAMIC SPACE OCCUPYING LESIONS". endotext.org. Archived from the original on 25 February 2013. Retrieved 2 January 2013.
14. ^ Maghnie M, Aimaretti G, Bellone S, Bona G, Bellone J, Baldelli R, de Sanctis C, Gargantini L, Gastaldi R, Ghizzoni L, Secco A, Tinelli C, Ghigo E (April 2005). "Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurement". Eur. J. Endocrinol. 152 (4): 589–96. doi:10.1530/eje.1.01873. PMID 15817915.
15. ^ Biller BM, Samuels MH, Zagar A, Cook DM, Arafah BM, Bonert V, Stavrou S, Kleinberg DL, Chipman JJ, Hartman ML (May 2002). "Sensitivity and specificity of six tests for the diagnosis of adult GH deficiency". J. Clin. Endocrinol. Metab. 87 (5): 2067–79. doi:10.1210/jc.87.5.2067. PMID 11994342.
16. ^ "Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated With hGH". National Endocrine and Metabolic Diseases Information Service. Archived from the original on 27 January 2013. Retrieved 2 January 2013.
17. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
18. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
19. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
20. ^ Naran, J; Can, AS (January 2020). "Lymphocytic Hypophysitis". PMID 32965926. Cite journal requires `|journal=` (help)
21. ^ a b Caturegli, Patrizio, and Tzou, Shey-Cherng, Hypophysitis, in Rose, Noel R., and Mack, Ian R., The Autoimmune diseases, chap. 40, at pg. 548.
22. ^ Howlett T.A.; Levy M.J.; Robertson I.J. (2010). "How reliably can autoimmune hypophysitis be diagnosed without pituitary biopsy". Clinical Endocrinology. 73 (1): 18–21. doi:10.1111/j.1365-2265.2009.03765.x. PMID 20039888. S2CID 12311424.
## External links[edit]
Classification
D
* ICD-10: E23.6
* MeSH: D000069281
* DiseasesDB: 34426
* SNOMED CT: 237706000
External resources
* Orphanet: 95506
* v
* t
* e
Pituitary disease
Hyperpituitarism
Anterior
* Acromegaly
* Hyperprolactinaemia
* Pituitary ACTH hypersecretion
Posterior
* SIADH
General
* Nelson's syndrome
* Hypophysitis
Hypopituitarism
Anterior
* Kallmann syndrome
* Growth hormone deficiency
* Hypoprolactinemia
* ACTH deficiency/Secondary adrenal insufficiency
* GnRH insensitivity
* FSH insensitivity
* LH/hCG insensitivity
Posterior
Neurogenic diabetes insipidus
General
* Empty sella syndrome
* Pituitary apoplexy
* Sheehan's syndrome
* Lymphocytic hypophysitis
* Pituitary adenoma
* v
* t
* e
Hypersensitivity and autoimmune diseases
Type I/allergy/atopy
(IgE)
Foreign
* Atopic eczema
* Allergic urticaria
* Allergic rhinitis (Hay fever)
* Allergic asthma
* Anaphylaxis
* Food allergy
* common allergies include: Milk
* Egg
* Peanut
* Tree nut
* Seafood
* Soy
* Wheat
* Penicillin allergy
Autoimmune
* Eosinophilic esophagitis
Type II/ADCC
* * IgM
* IgG
Foreign
* Hemolytic disease of the newborn
Autoimmune
Cytotoxic
* Autoimmune hemolytic anemia
* Immune thrombocytopenic purpura
* Bullous pemphigoid
* Pemphigus vulgaris
* Rheumatic fever
* Goodpasture syndrome
* Guillain–Barré syndrome
"Type V"/receptor
* Graves' disease
* Myasthenia gravis
* Pernicious anemia
Type III
(Immune complex)
Foreign
* Henoch–Schönlein purpura
* Hypersensitivity vasculitis
* Reactive arthritis
* Farmer's lung
* Post-streptococcal glomerulonephritis
* Serum sickness
* Arthus reaction
Autoimmune
* Systemic lupus erythematosus
* Subacute bacterial endocarditis
* Rheumatoid arthritis
Type IV/cell-mediated
(T cells)
Foreign
* Allergic contact dermatitis
* Mantoux test
Autoimmune
* Diabetes mellitus type 1
* Hashimoto's thyroiditis
* Multiple sclerosis
* Coeliac disease
* Giant-cell arteritis
* Postorgasmic illness syndrome
* Reactive arthritis
GVHD
* Transfusion-associated graft versus host disease
Unknown/
multiple
Foreign
* Hypersensitivity pneumonitis
* Allergic bronchopulmonary aspergillosis
* Transplant rejection
* Latex allergy (I+IV)
Autoimmune
* Sjögren syndrome
* Autoimmune hepatitis
* Autoimmune polyendocrine syndrome
* APS1
* APS2
* Autoimmune adrenalitis
* Systemic autoimmune disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Autoimmune hypophysitis
|
c0342410
| 8,627 |
wikipedia
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https://en.wikipedia.org/wiki/Autoimmune_hypophysitis
| 2021-01-18T19:08:18 |
{"gard": ["10349"], "mesh": ["D000069281"], "umls": ["C0342410"], "orphanet": ["95506"], "wikidata": ["Q4826342"]}
|
Paraphilia associated with urine or urination
"Golden shower" redirects here. For other uses, see Golden shower (disambiguation).
"Urophile" redirects here. It is not to be confused with Europhile.
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: "Urolagnia" – news · newspapers · books · scholar · JSTOR (August 2007) (Learn how and when to remove this template message)
Urolagnia
Other namesUrophilia, undinism, golden shower, watersports
A woman in stockings raising her skirt and urinating into the mouth of a man
Urolagnia (also urophilia, golden shower and watersports) is a paraphilia in which sexual excitement is associated with the sight or thought of urine or urination.[1][2][3]
The term has origins in the Greek language (from ouron – urine, and lagneia – lust).[4][3] Golden shower is slang for the practice of urinating on another person for sexual pleasure.
## Contents
* 1 Overview
* 2 Common variations
* 3 Frequency
* 4 Notable cases
* 5 See also
* 6 References
* 7 External links
## Overview
Urolagnia is a paraphilia.[2][3] During the activity, urine may be consumed or the person may bathe in it. Other variations include arousal from wetting or seeing someone else urinate in their pants or underclothes, or wetting the bed. Other forms of urolagnia may involve a tendency to be sexually aroused by smelling urine-soaked clothing or body parts. In many cases, a strong correlation or conditioning arises between urine smell or sight, and the sexual act. For some individuals the phenomenon may include a diaper fetish and/or arousal from infantilism.
Urolagnia is sometimes associated with, or confused with, arousal from having a full bladder or a sexual attraction to someone else experiencing the discomfort or pain of a full bladder, possibly a sadomasochistic inclination.
## Common variations
* Golden shower: A shower or stream of urine is directed onto another person or persons.[5]
* Clothes wetting: The person is sexually aroused by wetting one's clothing or observing another person doing so. Usually that person prefers to stage the wetting so that his/her legs (or other body parts) become soaked with urine. The warm sensation felt when urine trickles on the body seems to give very relaxing and pleasurable feelings to the person. In many cases, that person is also aroused by smelling body parts that have a urine scent. Others get aroused by telling some people about when they lost control and wet themselves. Some prefer a particular type of clothing to urinate.[citation needed]
* Exhibitionism: Becoming noticeably desperate or wetting oneself with the express purpose of being seen by strangers. Practitioners have described going to public places such as a mall or a park. Some intend to create situations where others can see their wet clothing.
* Human urinal: Within the BDSM community, some individuals desire to be used as a human urinal and some desire to use a human urinal. The submissive is usually strictly forbidden from placing their lips directly on the body of the dominant so the practice routinely involves them receiving much of the spray all over their face, hair and body; however, another way of doing this that applies mostly to male dominants, is to place the mouth on the head of the penis and drink the urine as it is released. One other, less common variation of this kink involves the dominant partner urinating inside the submissive partner's vagina or anus, which is usually followed up by the submissive partner ejecting the urine from their orifice(s).[citation needed]
* Omorashi: The act of holding one's own urine until the need to urinate is urgent, making another hold in their urine, or watching another person with an urgent need to urinate. This fetish sometimes originates from childhood memories of needing, or of seeing another needing, to urinate. Arousal may be triggered by seeing the body movements or facial expressions of that person. It can also be heightened by the person saying that they have to urinate. The arousal from being desperate comes from the sensation of having a full bladder.
* Voyeurism: Seeing another urinate without the person's knowledge either through video taping by a hidden camera, or by lurking in locations where people are urinating or are likely to have an urge to urinate.
## Frequency
Jennifer Eve Rehor of San Francisco State University points out that such data as exists on what she calls "unconventional" or "kink" sexual behavior is generally problematic because of the way that it has been collected, through criminal and clinical case studies.[6] Behavior that appears neither in criminal trials nor in clinical studies (for example, because the individuals concerned do not commonly seek professional help) is therefore under-reported. Rehor therefore surveyed 1,764 female participants in "kink" behavior (mostly association with BDSM) in 2010–11, receiving 1,580 valid responses. What Rehor calls "urine play" is relatively infrequent, with only 36.52% of her sample reporting having done it or having had it done to them. In contrast, 93.99% of her sample reported having done spanking or having had it done to them, and 61.96% reported having used or been exposed to feathers/fur.[7] It is impossible to extrapolate Rehor's data onto the general population, but her study does give a guide to prevalence in the North American BDSM community.
In Channel 4’s 2017 nationwide Great British Sex survey, watersports (or urolagnia) was ranked ninth in popularity among sexual fetishes in the UK.[8][9]
## Notable cases
British sexologist Havelock Ellis
* Chuck Berry: American musician who was featured urinating on a woman in a sex tape, and was sued for videotaping dozens of women in the restroom of a restaurant he owned.[10][11]
* Havelock Ellis: British sexologist who was impotent until at age sixty he discovered that he was aroused by the sight of a woman urinating.[12]
* Albert Fish: an American serial killer, also known as The Grayman, The Boogeyman. He wrote several letters to widows with want-ads in The New York Times and described in detail women urinating on him, inside of him, and in cups so that he could drink it. He later forced children to drink urine.[13]
* Ashley MacIsaac: Nova Scotian fiddler and singer. In 1996 he spoke with a Maclean's interviewer mentioning his sexual life, including his boyfriend and his taste for urolagnia. In 2003 he told an interviewer for the Montreal Mirror that he loves to have men urinate on him.[14]
* Ricky Martin: a Puerto Rican singer. He gave an interview with Blender magazine in which he stated that he enjoyed "giving the golden shower."[15][16]
* Patrice O'Neal: American standup comedian who had on several occasions mentioned his appreciation for golden showers, even stating that his girlfriend noticing that his urine tasted like "birthday cake" is how he came to find out that he suffered from diabetes.[17][18]
* Annie Sprinkle: an American porn actress, later turned sex educator and advocate for female sexual enjoyment. Her stage name is derived from her obsession with fluids.[19]
* Troughman: an Australian noted in the Sydney media for lying down in urinal troughs at Sydney Mardi Gras parties and other events.[20]
* Ian Watkins: the former lead singer for the Welsh rock band Lostprophets. Convicted in December 2013 of numerous child sex abuse charges, which include urolagnia.[21]
## See also
* Urination and sexual activity
* Urophagia
## References
1. ^ "MerckEngage® - Healthy Living Tips and Health Information". Archived from the original on 24 August 2010. Retrieved 26 May 2016.
2. ^ a b Balon R (2016). Practical Guide to Paraphilia and Paraphilic Disorders. Springer. p. 188. ISBN 3319426508.
3. ^ a b c Laws DR, O'Donohue WT (2012). Sexual Deviance: Theory, Assessment, and Treatment. Guilford Press. pp. 395, 403. ISBN 1462506690.
4. ^ Colman, Andrew M. (2006). A Dictionary of Psychology. Oxford University Press. ISBN 978-0-19-280632-1. Retrieved 2009-01-08.
5. ^ "Definition of GOLDEN SHOWER". www.merriam-webster.com.
6. ^ Jennifer Eve Rehor (2015), "Sensual, Erotic, and Sexual Behaviors of Women from the ‘'Kink’ Community," Archives of Sexual Behavior 44:825–836, DOI 10.1007/s10508-015-0524-2
7. ^ Rehor (2015).
8. ^ https://metro.co.uk/2019/03/22/meet-man-gets-turned-women-peeing-8917001/?
9. ^ Mangan, Lucy (February 26, 2016). "The Great British Sex Survey review: the nation's fetishes get aired in all their gory glory" – via www.theguardian.com.
10. ^ Gilmore, Mikal (7 April 2017). "Chuck Berry: Farewell to the Father of Rock". rollingstone.com.
11. ^ "The Complicated Truth About Chuck Berry". mtv.com.
12. ^ Andrew Brink (1980), "Havelock Ellis: eros and explanation (review of Phyllis Grosskurth, Havelock Ellis: a Biography)", Russell: The Journal of Bertrand Russell Studies, 100 (1)
13. ^ Harold Schechter (1990), Deranged: The Shocking True Story of America's Most Fiendish Killer (reedited, illustrated ed.), Simon and Schuster, pp. 92, 271–272, ISBN 9780671678753
14. ^ Montreal Mirror report Archived 2003-09-22 at the Wayback Machine.
15. ^ "Ricky Martin outraged over controversy caused by his 'golden shower' comment". Singapore: Agence France-Presse / Yahoo! Singapore Pte. Ltd. 2006-01-14. Archived from the original on 2007-01-25. Retrieved 2013-03-11. "Latin crooner Ricky Martin has expressed outrage over controversy that emerged after he told a leading US music magazine he enjoyed "golden showers" -- the act of urinating on another person. ... "I love giving the golden shower," he told Blender magazine earlier."
16. ^ "Ricky Martin Criticised Over "Giving The Golden Shower"". Contactmusic.com. Retrieved 26 May 2016.
17. ^ https://www.youtube.com/watch?v=GIYFR1zBIZ0 Patrice O'Neal: Elephant in the Room on YouTube
18. ^ http://www.jonahweiner.com/RS_Patrice_Jonah_Weiner.html Archived 2014-01-11 at the Wayback Machine Patrice O'Neal: Death of a Stand-Up by Jonah Weiner, originally published in Rolling Stone
19. ^ Redaction, "Annie Sprinkle", Miradas (in Spanish), archived from the original on 2011-07-18, "(...) she made herself get called Annie Sprinkle. Sprinkle (...) made reference to her obsession with fluids: "I was attracted by the sprinkles over ice cones and by the sound of humidity. I like cascades, urine, vaginal fluid, sweat, anything wet. So the name "Annie Sprinkle" seemed perfect.""
20. ^ Barry Charles (July 2003). "Troughman". Journal of Gay and Lesbian Social Services. 15 (3&4): 65–74. doi:10.1300/J041v15n03_06.Robert Reynolds (July 2003). "Editor's Comment: Afternoon Tea with Troughman". Journal of Gay and Lesbian Social Services. 15 (3&4): 70–74. doi:10.1300/J041v15n03_06.
21. ^ "Disturbing Ian Watkins Trial Details Surface: Singer Sexually Touched, Had Sex With and Urinated on Children". Retrieved 26 May 2016.
## External links
Media related to Urolagnia at Wikimedia Commons
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Urolagnia
|
None
| 8,628 |
wikipedia
|
https://en.wikipedia.org/wiki/Urolagnia
| 2021-01-18T19:05:13 |
{"wikidata": ["Q457251"]}
|
For academic procrastination, see Student syndrome.
Medical students' disease (also known as second year syndrome or intern's syndrome) is a condition frequently reported in medical students, who perceive themselves to be experiencing the symptoms of a disease that they are studying.
The condition is associated with the fear of contracting the disease in question. Some authors suggested that the condition must be referred to as nosophobia[1][2] rather than "hypochondriasis", because the quoted studies show a very low percentage of hypochondriacal character of the condition, and hence the term "hypochondriasis" would have ominous therapeutic and prognostic indications. The reference[1] suggests that the condition is associated with immediate preoccupation with the symptoms in question, leading the student to become unduly aware of various casual psychological and physiological dysfunctions; cases show little correlation with the severity of psychopathology, but rather with accidental factors related to learning and experience.
## Contents
* 1 Overview
* 2 In popular culture
* 3 See also
* 4 Notes
* 5 References
## Overview[edit]
Baars (2001) writes that medical students who study "frightening diseases" for the first time routinely experience vivid delusions of having contracted such diseases, and describes it as a "temporary kind of hypochondria". Baars says that the experience is so common that it has become known as "medical student syndrome".
Hodges (2004), reviewing the literature, said that "the first descriptions of medical students' disease appeared in the 1960s." He may have been referring to the phrase, for the phenomenon itself was noted much earlier. George Lincoln Walton (1908) reported that
Medical instructors are continually consulted by students who fear that they have the diseases they are studying. The knowledge that pneumonia produces pain in a certain spot leads to a concentration of attention upon that region which causes any sensation there to give alarm. The mere knowledge of the location of the appendix transforms the most harmless sensations in that region into symptoms of serious menace.
Hodges also said that it was suggested in the 1960s that:
This phenomenon caused a significant amount of stress for students and was present in approximately 70 to 80 percent of students... papers written in the 1980s and 1990s conceptualised the condition as an illness in the psychiatric spectrum of hypochondriasis.... Marcus found that the dream content of year two medical students frequently involved a preoccupation with personal illness. Marcus's subjects reported many dreams in which they suffered illnesses of the heart, the eyes and the bowels, among others.
Hodges went on to describe work by Moss-Morris and Pétrie who saw medical students' disease as "a normal perceptual process, rather than a form of hypochondriasis." Learning about a disease "creates a mental schema or representation of the illness which includes the label of the illness and the symptoms associated with the condition. Once this representation is formed, symptoms or bodily sensations that the individual is currently experiencing which are consistent with the schema may be noticed, while inconsistent symptoms are ignored."
Howes and Salkovskis (1998) noted that "medical students frequently develop fears and symptoms of illness. This has been termed medical students' disease, nosophobia, hypochondriasis of medical students, and medicalstudentitis." They mentioned two studies, one concluding that about 70% of medical students have groundless medical fears during their studies, and one which found that 78.8% of a randomly chosen sample of medical students showed a history of "medical student disease." However, they cite a number of studies showing a similar incidence of hypochondria in law students and other non-medical students, which they said call into question "the widely held view that medical students are more likely than others to have excessive anxiety about their health."
## In popular culture[edit]
An episode of the TV show Scrubs called "Our Driving Issues" features a class of medical students who, despite having been warned about medical students' disease, nevertheless suffer from it.
In the Indian movie Dharmadhurai (Tamil) starring Vijay Sethupathy, one of the lead heroine Dr.Stella suffer from second year syndrome.
In episode eight of the Canadian TV show Total Drama, season two, Total Drama Action, called "One Flu Over the Cuckoos Nest" features a challenge for the contestants where they are forced to read medical textbooks all night - combined with the lack of sleep many contestants had Medical Students' Disease, and in the end Leshawna is the one who calms the rest of the contestants down after figuring out that the diseases they all thought they had were fake, securing the win for her and her team.
In the novel Code Orange, Mitty, a student researching smallpox for a report, finds smallpox scabs in an old book and wonders if they can still transmit the virus. He believes he is infected with smallpox after he begins feeling sick.
## See also[edit]
* Apophenia
* Cyberchondria
* Self diagnosis
## Notes[edit]
1. ^ a b Hunter R.C.A, Lohrenz J.G., Schwartzman A.E. "Nosophobia and hypochondriasis in medical students". J Nerv Ment Dis 1964;130:147-52. PMID 14206454
2. ^ Nikhil Thakur, Bogdan Preunca "Nosophobia presented as acute hypochondria". TMJ 56(2), 120
## References[edit]
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (October 2014) (Learn how and when to remove this template message)
* http://www.medicalis.ro/2009/?q=node/38[permanent dead link]
* Medical Student Syndrome: Nosophobia presented as Acute Hypochondria, (2008) Thakur N, Preunca B, Victor Babeș University of Medicine and Pharmacy, Timișoara, Romania
* Baars, Bernard J. (2001). In the Theater of Consciousness: The Workspace of the Mind. Oxford University Press US. ISBN 0-19-514703-0.
* Hodges, Brian. (2004) Medical Student Bodies and the Pedagogy of Self-Reflection, Self-Assessment, and Self-Regulation, JCT Rochester (Journal of Curriculum Theorizing) 20(2)41.
* Howes, Oliver D. and Paul M. Salkovskis (1998) Health anxiety in medical students. The Lancet v351.n9112 (May 2, 1998): pp1332.
* Walton, George Lincoln (1908) Why Worry? J. B. Lippincott, Philadelphia. Project Gutenberg text
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Medical students' disease
|
None
| 8,629 |
wikipedia
|
https://en.wikipedia.org/wiki/Medical_students%27_disease
| 2021-01-18T19:08:51 |
{"wikidata": ["Q3141344"]}
|
A type of acute lymphoblastic leukemia
T-Cell Acute Lymphoblastic Leukemia (T-ALL)
SpecialtyHaematology, oncology
SymptomsRecurrent infections, unusual or common bleeding and bruising, extreme tiredness, unexplained fever, unexplained weight gain, swollen lymph nodes
Usual onsetMost prevalent in the adult population with incidences diminishing with age. Amongst pediatric population, median onset of age 9. Marked male predominance [1]
CausesCurrently unknown
Diagnostic methodBlood test, bone marrow aspiration,[2] biopsy, CT, MRI, lumbar puncture,[2] genetic testing
TreatmentLong-term chemotherapy,[3] CNS radiation therapy,[1] stem cell transplantation [4]
Prognosis5-Year Event Free Survival: 70%, Overall Survival: 80% [1]
Frequency7% at ages 1-10, 14% at ages 10-15, and 29% at ages 15-18 [5]
T-Cell Lymphoblastic Leukemia (T-ALL) is a type of acute lymphoblastic leukemia with aggressive malignant neoplasm of the bone marrow.[6] Acute Lymphoblastic Leukemia (ALL) is a condition where immature white blood cells accumulate in the bone marrow, subsequently crowding out normal white blood cells[7] and create build-up in the liver, spleen, and lymph nodes.[8] The two most common types of ALL are B-Lymphocytes and T-Lymphocytes, where the first protects the body against viruses and bacteria through antibody production which can directly destroy target cells or trigger others to do so, whilst the latter directly destroy bacteria or cells infected with viruses.[9] Approximately 20% of all ALL patients are categorized specifically to suffer from T-ALL and it is seen to be more prevalent in the adult population in comparison to children, with incidences shown to diminish with age.[6][10] Amongst T-ALL cases in the pediatric population, a median onset of age 9 has been identified and the disease is particularly prominent amongst adolescents.[6] The disease stems from cytogenic and molecular abnormalities, resulting in disruption of developmental pathways controlling thymocyte development, tumor suppressor development, and alterations in control of cell growth and proliferation.[1] Distinct from adult T-Cell Leukemia where T-Cell Lymphotropic Virus Type I causes malignant maturation of T-cells, T-ALL is a precursor for lymphoid neoplasm.[6] Its clinical presentation most commonly includes infiltration of the central nervous system (CNS), and further identifies mediastinal mass presence originating from the thymus, along with extramedullary involvement of multiple organs including the lymph node as a result of hyperleukocytosis.
## Contents
* 1 Clinical manifestations
* 2 Pathology
* 2.1 Causes of T-ALL
* 2.1.1 Genetic conditions
* 2.1.2 Radiation exposure
* 2.1.3 Chemical exposure
* 2.1.4 Viruses
* 3 Risk factors of T-ALL
* 4 Signs and symptoms
* 5 Diagnosis
* 5.1 Assessments
* 5.1.1 Blood tests
* 5.1.2 Bone marrow aspiration and biopsy
* 5.1.3 X-rays and ultrasound
* 5.1.4 Lumbar puncture
* 5.1.5 Genetic test
* 5.2 Staging
* 6 Treatment
* 7 Prognosis
* 8 Cytogenetics and etiology
* 8.1 Epidemiology
* 9 References
## Clinical manifestations[edit]
Originating from epigenetic and genetic alterations in immature thymocytes, T-ALL is a highly aggressive and heterogenous disease. Patients often present extensive bone marrow involvement, mediastinal mass, adenopathy, CNS involvement, and splenomegaly.[1] Symptoms can be presented acutely or develop progressively over time. The most common clinical feature amongst patients is the proliferation of malignant clones, hence suppressing normal hematopoiesis, resulting in deficiency of functioning peripheral blood cells (particularly thrombocytes) deficiency.[1]
## Pathology[edit]
Like most cancers, mutations in the DNA begin T-ALL development and lead to loss of function of white blood cells. Different subtypes of leukemia have similarities in their causes, which are a combination of genetics, epigenetic changes, and environmental factors. However, because there are few T-ALL cases in comparison to other subtypes of leukemia, there is currently no clear cause of T-ALL. T-ALL is not contagious nor inherited but specific genetic mutations, commonly including NOTCH1 and CDKN2A, may be passed along which increases susceptibility of T-ALL.[10]
### Causes of T-ALL[edit]
#### Genetic conditions[edit]
Some patients may have familial histories with leukemia predispositions which increases risk of developing T-ALL. Li-Fraumeni syndrome is an inherited condition that leads to mutation of TP53, a tumor suppressor gene, which then increases risk of T-ALL. Mutation in gene SPRED1 is also associated with development of T-ALL.
Patients with immature thymocytes in the thymus begins T-ALL development. Furthermore, hereditary conditions such as Down syndrome, neurofibromatosis type 1, ataxia telangiectasia, and Noonan syndrome are associated with higher risk of developing T-ALL.
#### Radiation exposure[edit]
Play media
Human T-Lymphotropic Virus
Those who have had pervious chemotherapy and exposure to radiation may have increased risks of developing T-ALL. CDKN2A is an inherited polymorphism variant that is seen to be associated with development of T-ALL. SR-90 emission from nuclear reactor accidents is also believed to increase risk of developing T-ALL.
#### Chemical exposure[edit]
Benzene, a chemical classified as being carcinogenic to humans, is associated with increased risk of T-ALL, as well as other forms of leukemia.[11]
#### Viruses[edit]
Human T-Lymphotropic virus (HTLV-1) is a retroviral infection that affect white blood cells (T cells), which may later develop into T-ALL and other subtypes of leukemia.[12]
## Risk factors of T-ALL[edit]
T-ALL is not a contagious nor inherited condition. Its two main risk factors are age and gender.[8] Most cases of leukemia increase with age, with ALL being the main exception, which peaks in children aged 2 to 5 years. T-ALL is seen to be most prevalent in the adult population, but amongst cases in the pediatric population, it is seen to have a median onset of age 9 and is most prominent to adolescents.[6][10] The disease also is marked male predominance with a three-fold increased risk of developing T-ALL in comparison to females. It is currently unclear as to why T-ALL is preferential towards older children and males.[1]
## Signs and symptoms[edit]
T-ALL patients may not always experience the all signs and symptoms below. Patients with other medical conditions that are not leukemia may also experience similar symptoms.
* Recurrent infections due to lack of normal white blood cells (neutrophils)[13]
* Unusual and/or common bleeding and bruising
* Extreme tiredness and swellings in the neck (lymph nodes) or the middle of the chest, causing possible facial swelling
* Unexplained fevers, chills, and/or night sweats
* Unexplained weight loss and/or loss of appetite
* Swollen lymph nodes
* Unexplained skin itch
## Diagnosis[edit]
When doctors are suspicious of a patient potentially suffering from T-ALL after careful examination of background (including medical history, signs, and symptoms), doctors would then conduct tests, procedures, and scans to proceed with diagnosis of T-ALL. Some symptoms and medical history may not be specific enough to diagnose T-ALL, so further testing may be required. Doctors may consider some factors mentioned but would not necessarily conduct all tests possible.[13]
### Assessments[edit]
#### Blood tests[edit]
Complete blood count (CBC) is done to test for T-ALL by measuring the different types and maturity of cells in the patient's blood, which allows the donor to determine whether leukemic cells are present in the patient. Additionally, blood tests that show high levels of white blood cells or low levels of red blood cells may also be a sign of T-ALL. Further testing could also help indicate whether T-ALL has affected other organs such as the kidneys as well as the genetic alterations of the disease.
#### Bone marrow aspiration and biopsy[edit]
Bone marrow consists of a combination of solid and liquid components. Bone marrow aspiration and biopsies are typically done simultaneously to help determine and confirm the type and severity of T-ALL. Further biopsies such as skin and lymph node biopsies may also need to be done to check for the spread of T-ALL.[2]
#### X-rays and ultrasound[edit]
As swollen spleen and lymph nodes are symptoms of T-ALL, X-rays and ultrasound scans, such as CT and MRI, can help confirm the diagnosis. This also provides information on the impact T-ALL has on other organs of the body.
#### Lumbar puncture[edit]
To prevent ineffective treatments towards T-Cells that have invaded the CNS, lumbar puncture allows doctors to determine whether the treatments will be effective. This also reveals the spread of T-ALL.[2]
Lumbar Puncture Positions
#### Genetic test[edit]
Genetic testing helps identify chromosomal abnormalities in the patients. This can help identify the genetic mutations and therefore diagnose the specific leukemia subtype.
### Staging[edit]
Normal staging is not used for T-ALL because it is already spread throughout the body when first diagnosed. However, they have their own system of classifying T-ALL cases.[14] First, patterns of gene expression are investigated to define T-ALL. Then, stages of thymic development can be determined by identifying specific expressions in chromosomal abnormalities. This forms the stages of T-ALL cases being either at high or low risk.[8] Patients will then receive the appropriate treatment in respect to whichever class they are in.[14]
## Treatment[edit]
Currently, standard treatment of T-ALL takes the form of long-term chemotherapy and drug intake to prevent or treat side effects associated with low white blood cell count as a result of intensive chemotherapy regimes. The treatment typically takes place over three stages: induction, consolidation, and maintenance.[3] Treatment is expected to span over approximately two years with the maintenance phase lasting the longest. T-ALL can spread to areas of the brain and spinal cord,[2] which can be diagnosed through lumbar puncture assessment in patients suspected to suffer from T-ALL. Lumbar puncture helps to identify leukemic cells surrounding the cerebrospinal fluid (CSF).[3] Even if leukemic cells are not found in the CSF at the time of diagnosis, it is highly likely that they will spread there with time and progression of the disease. Henceforth, Prophylactic Intrathecal Chemotherapy in CNS lymphoma, a treatment to lower risk of leukemia spreading to the spinal cord and brain by directly administering chemotherapy to the CSF, is crucial.[3]
In comparison to B-ALL, T-ALL patients present more high-risk features including tendency for earlier relapse, CNS involvement, and resistance to chemotherapy. In response, Prophylactic Intrathecal Chemotherapy is further enhanced with CNS radiation therapy.[1] In treating high-risk T-ALL patients, allogeneic hematopoietic stem cell transplantation has been deemed to produce highly successful and promising results. However, its consequence includes increased relapse, which reduces its curative potential. Patients undergoing transplantation must be continuously monitored for Minimal Residual Disease (MRD), usually via qPCR analysis of T-Cell Receptor (TCR) genes to evaluate for fusion transcripts such as SIL-TAL1.[15] Mutation of TAL1 is frequently present in T-ALL patients, where SIL/TAL1 fusion gives rise to inappropriate TAL1 expression, in turn promoting T-Cell leukemogenesis.[4] The analysis is critical to ensure that immediate intervention is taken during early stages of relapse.
Young T-ALL patients showed significant improvement through multimodal therapy, involving initial induction therapy – including a glucocorticoid, vincristine, L-asparaginase, and an anthracycline \- for 4 to 6 weeks, intensive combination therapy for 6–8 months, lastly 18–30 months of low-intensity anti-metabolite-based therapy.[8] It is crucial to note the importance of differential treatment amongst youth and adults. Studies have shown that through administering a random variation of either traditional pediatric scheme or intensive block-based chemotherapy, the two groups showed significantly different responses.[4] Although both treatments included administering high-dose methotrexate and asparaginase and allogeneic hematopoietic stem cell transplantation, high survival and low death rates were present for all patients for the first treatment whereas the latter led to a high toxic death rate amongst adults.[16]
## Prognosis[edit]
T-ALL patients can expect a 5-year event free survival and overall survival of, respectively, 70% and 80%.[1] Amongst approximately 25% of children who relapse, survival rate sits at 30-50% and the patients show much poorer prognosis.[1] Monitoring for MRD is critical as previously mentioned, through qPCR analysis, in order to evaluate the efficacy of treatment.
Recent genomic studies have found that a selection of genetic variants in relation to clonal evolution that drive resistance have been found as the basis for T-ALL relapse. Over 20% of patients with relapsed T-ALL showed mutation in the variant cytosolic 5’-nucleotidase II (NT5C2) gene, while the TFDP3 gene has also been found to confer chemoresistance in children.[1]
## Cytogenetics and etiology[edit]
Basic karyotyping showed structural chromosomal rearrangements in 50-75% of T-ALL patients, primarily inversion and translocations.[1] Diagnostic yield can be substantially increased through further diagnosis through Fluorescent In Situ Hybridization (FISH) and other various molecular technologies, for example Single Nucleotide Polymorphism (SNP) array. The most common structural abnormality is rearrangement of the TCR gene. 95% of T-Cell TCR consist of an alpha and beta chain (encoded by TRA and TRB, respectively), where only 5% of T-Cell TCR consists of gamma and delta chains (encoded by TRG and TRD, respectively).[4]
Karyotyping showed that TRD and TRB undergo recombination most commonly, whereas TRA is seldom involved and TRG is rarely rearranged. These rearrangements affect the normal process of TCR and could lead to cellular machinery failing to correctly repair recombination-activating RAG protein induced double-strand breaks (DSBs).[1] All 30 genes known to illegitimately recombine with TCR genes function primarily to regulate epigenetics through roles such as signal transducers, transcription factors (tumor suppressors or oncogenes), cell cycle regulators, or ribosomal proteins.
T-Cell TCR encoded by TRA, TRD, and TRG at chromosome bands 14q11 and 7q34 become malignant in T-ALL patients.[1] The build-up of malignant T-cells in T-ALL are clones with identical T-cell receptor gene arrangements having taken rise from a single cell. The gene rearrangements, as a result of the malignant cell, juxtapose both TCR genes and other critical genes that code for transcription factors. This results in dysregulation of partner gene transcription, which serves as the main cause of leukemogenesis \- a multi-step process of induction, development, and progression of leukemic diseases.[1] 20% of all leukemias demonstrate simultaneous rearrangement of these genes.
### Epidemiology[edit]
Although over 100 genes mutations have been identified in T-ALL patients, only NOTCH1 and CDKN2A mutations are considered to be common.[12]
In over 50% of pediatric T-ALL cases, mutations in epigenetic regulators have been identified.[5] This activates mutations of NOTCH1 and gene FBXW7 causes the tumor-suppressing gene to lose its functions, leading to T-ALL.[17]
Near-telomeric location may sometimes generate subtle exchanges in DNA material at the loci involved in oncogenic rearrangements of T-ALL. This causes cryptic translocation and therefore deletes the putative tumor suppressor gene CDKN2A (INK4A). At the same time, TLX1 and NOTCH1 may also be activated at higher frequency than usual. The multistep prognosis of T-ALL has hence been said to intensify and rapidly progress due to accumulation of effects resulting from dysregulation of multiple signaling pathways.[5]
## References[edit]
1. ^ a b c d e f g h i j k l m n o "Pediatric T-Cell Acute Lymphoblastic Leukemia". atlasgeneticsoncology.org. Retrieved 2020-04-07.
2. ^ a b c d e "Acute lymphoblastic leukemia (ALL): Symptoms, causes, and treatment". www.medicalnewstoday.com. Retrieved 2020-04-07.
3. ^ a b c d "Typical Treatment of Acute Lymphocytic Leukemia (ALL)". www.cancer.org. Retrieved 2020-04-07.
4. ^ a b c d D’Angiò, Mariella; Valsecchi, Maria G.; Testi, Anna M.; Conter, Valentino; Nunes, Vittorio; Parasole, Rosanna; Colombini, Antonella; Santoro, Nicola; Varotto, Stefania; Caniglia, Maurizio; Silvestri, Daniela (January 2015). "Clinical features and outcome of SIL/TAL1-positive T-cell acute lymphoblastic leukemia in children and adolescents: a 10-year experience of the AIEOP group". Haematologica. 100 (1): e10–e13. doi:10.3324/haematol.2014.112151. ISSN 0390-6078. PMC 4281327. PMID 25304610.
5. ^ a b c "T-lineage acute lymphoblastic leukemia (T-ALL)". atlasgeneticsoncology.org. Retrieved 2020-04-07.
6. ^ a b c d e Litzow, Mark R.; Ferrando, Adolfo A. (2015-08-13). "How I treat T-cell acute lymphoblastic leukemia in adults". Blood. 126 (7): 833–841. doi:10.1182/blood-2014-10-551895. ISSN 0006-4971.
7. ^ "Acute Lymphoblastic Leukemia (ALL)". www.stjude.org. Retrieved 2020-04-07.
8. ^ a b c d "T-cell Acute Lymphoblastic Leukaemia". Leukaemia Care. Retrieved 2020-04-07.
9. ^ "What is the Difference Between B-cell Lymphoma and T-cell Lymphoma?". Dana-Farber Cancer Institute. 18 Jun 2019. Retrieved 7 Apr 2020.
10. ^ a b c "T-Cell Acute Lymphoblastic Leukemia - My Cancer Genome". www.mycancergenome.org. Retrieved 2020-04-07.
11. ^ Khalade, Abdul; Jaakkola, Maritta S.; Pukkala, Eero; Jaakkola, Jouni J. K. (2010-06-28). "Exposure to benzene at work and the risk of leukemia: a systematic review and meta-analysis". Environmental Health: A Global Access Science Source. 9: 31. doi:10.1186/1476-069X-9-31. ISSN 1476-069X. PMC 2903550. PMID 20584305.
12. ^ a b "Human T-cell leukemia virus type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-04-07.
13. ^ a b "Leukemia - Chronic T-Cell Lymphocytic - Stages". Cancer.Net. 2012-06-25. Retrieved 2020-04-07.
14. ^ a b "Acute lymphocytic leukemia - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org. Retrieved 2020-04-07.
15. ^ D’Angiò, Mariella; Valsecchi, Maria G.; Testi, Anna M.; Conter, Valentino; Nunes, Vittorio; Parasole, Rosanna; Colombini, Antonella; Santoro, Nicola; Varotto, Stefania; Caniglia, Maurizio; Silvestri, Daniela (2015-01-16). "Clinical features and outcome of SIL/TAL1-positive T-cell acute lymphoblastic leukemia in children and adolescents: a 10-year experience of the AIEOP group". Haematologica. 100 (1): e10–e13. doi:10.3324/haematol.2014.112151. ISSN 0390-6078. PMC 4281327. PMID 25304610. Retrieved 2020-04-03.
16. ^ Quist-Paulsen, P.; Toft, N.; Heyman, M.; Abrahamsson, J.; Griškevičius, L.; Hallböök, H.; Jónsson, Ó G.; Palk, K.; Vaitkeviciene, G.; Vettenranta, K.; Åsberg, A. (2020-02-20). "T-cell acute lymphoblastic leukemia in patients 1–45 years treated with the pediatric NOPHO ALL2008 protocol". Leukemia. 34 (2): 347–357. doi:10.1038/s41375-019-0598-2. ISSN 1476-5551.
17. ^ Belver, Laura; Ferrando, Adolfo (2016-08-30). "The genetics and mechanisms of T cell acute lymphoblastic leukaemia". Nature Reviews Cancer. 16 (8): 494–507. doi:10.1038/nrc.2016.63. ISSN 1474-1768. Retrieved 2020-04-05.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
T-Cell Acute Lymphoblastic Leukemia
|
c1961099
| 8,630 |
wikipedia
|
https://en.wikipedia.org/wiki/T-Cell_Acute_Lymphoblastic_Leukemia
| 2021-01-18T18:29:52 |
{"mesh": ["D054218"], "umls": ["C1961099"], "wikidata": ["Q55949881"]}
|
White piedra
Other namesTinea blanca
SpecialtyInfectious disease
White piedra (or tinea blanca) is a mycosis of the hair[1] caused by several species of fungi in the genus Trichosporon. It is characterized by soft nodules composed of yeast cells and arthroconidia that encompass hair shafts.
## Contents
* 1 Diagnosis
* 2 Treatment
* 3 See also
* 4 References
* 5 External links
## Diagnosis[edit]
This section needs expansion. You can help by adding to it. (March 2019)
White piedra can occur on the hair of the scalp; Trichosporon ovoides is likely the cause in this case.[2] White piedra on scalp hair is rarely caused by Trichosporon inkin; pubic hair with white piedra is what T. inkin is mainly associated with.[3] White piedra can occur on pubic hair; T. inkin likely causes this.[2]
Trichosporon beigelii
## Treatment[edit]
There are several approaches to treat this infectious disease. One approach involves shaving the affected areas. Another approach involves the use of antifungal medication.[4]
## See also[edit]
* Trichobacteriosis axillaris
## References[edit]
1. ^ Pontes ZB, Ramos AL, Lima Ede O, Guerra Mde F, Oliveira NM, Santos JP (July 2002). "Clinical and mycological study of scalp white piedra in the State of Paraíba, Brazil". Memórias do Instituto Oswaldo Cruz. 97 (5): 747–50. doi:10.1590/S0074-02762002000500028. PMID 12219146.
2. ^ a b Hay, Roderick J. (2015). "Dermatophytosis (Ringworm) and Other Superficial Mycoses". Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases. pp. 2985–2994.e1. doi:10.1016/B978-1-4557-4801-3.00268-X. ISBN 9781455748013.
3. ^ Kriplani, Dimple; Patel, Bharti; Viswanath, Vishalakshi; Miskeen, Autarkishen; Torsekar, Raghunandangovind (2011). "White piedra of scalp hair by Trichosporon inkin". Indian Journal of Dermatology, Venereology, and Leprology. 77 (5): 591–3. doi:10.4103/0378-6323.84065. PMID 21860159.
4. ^ Kiken DA, Sekaran A, Antaya RJ, Davis A, Imaeda S, Silverberg NB (December 2006). "White piedra in children". Journal of the American Academy of Dermatology. 55 (6): 956–61. doi:10.1016/j.jaad.2005.11.1033. PMID 17097391.
## External links[edit]
Classification
D
* ICD-10: B36.2
* ICD-9-CM: 111.2
* MeSH: D010854
* DiseasesDB: 31871
* DermAtlas 2062238337
* 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 condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
White piedra
|
c0040249
| 8,631 |
wikipedia
|
https://en.wikipedia.org/wiki/White_piedra
| 2021-01-18T18:47:26 |
{"mesh": ["D010854"], "umls": ["C0040249"], "wikidata": ["Q3902759"]}
|
A number sign (#) is used with this entry because of evidence that the Kondo-Fu type of spondyloepiphyseal dysplasia is caused by compound heterozygous mutation in the MBTPS1 gene (603355) on chromosome 16q23. One such patient has been reported.
Description
The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed (Kondo et al., 2018).
Clinical Features
Kondo et al. (2018) studied an 11.5-year-old girl who showed severely retarded growth with skeletal anomalies, including a bone mineral density that was approximately 60% of that of healthy controls. She was small for gestational age at birth, with lengths and weights initially in the 5th centile, and after 6 months of age, growth in weight and height slowed down. At 2 years of age, bilateral cataracts were extracted, and at age 3.5 years, she underwent bilateral inguinal hernia repair. Although gross motor milestones were delayed, speech and cognitive development were normal. She showed limited response to growth hormone (GH1; 139250) replacement therapy, which was discontinued after 1 year. Evaluation at age 6 years for back pain showed short stature, pectus carinatum, kyphosis, and waddling gait; x-rays revealed spondyloepiphyseal dysplasia. At age 8, she was found to have markedly elevated plasma levels of various lysosomal enzymes, with normal urinary glycosaminoglycans. Bone mineral density was low at age 10, with DXA scan showing a z-score of -4.5 for total body less head and -3.3 for anterior-posterior spine. Echocardiogram at 10.5 years of age was normal. X-rays at 11.5 years of age showed stable complete anterolisthesis of vertebra L5 on S1, and bilateral shortening of the femoral necks with irregular and dysplastic appearance of the femoral and proximal tibial epiphyses. The fibulae were gracile, with valgus tibial bowing due to defective endochondral ossification. She also had brachydactyly and dysmorphic facial features, including prominent forehead and cheekbones and large posteriorly rotated ears. Her parents and 2 sisters were unaffected.
Molecular Genetics
In an 11.5-year-old girl with spondyloepiphyseal dysplasia and elevated plasma lysosomal enzymes, who was negative for mutation in mucolipidosis-associated genes, Kondo et al. (2018) performed whole-exome sequencing and identified compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication (603355.0001) and a missense mutation (D365G; 603355.0002). Her unaffected parents and sisters were each heterozygous for 1 of the mutations.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low weight Other \- Small for gestational age \- Growth drop-off at 6 months of age HEAD & NECK Face \- Prominent forehead \- Prominent cheekbones Ears \- Large ears \- Posteriorly rotated ears Eyes \- Bilateral cataracts, early-onset CHEST External Features \- Pectus carinatum GENITOURINARY External Genitalia (Female) \- Bilateral inguinal hernias SKELETAL \- Spondyloepiphyseal dysplasia \- Low bone mineral density Spine \- Kyphosis \- Stable complete anterolisthesis of L5 on S1 Limbs \- Bilateral shortening of femoral necks \- Irregular and dysplastic appearance of femoral epiphyses \- Irregular and dysplastic appearance of proximal tibial epiphyses \- Gracile fibulae \- Valgus bowing of tibiae \- Defective endochondral ossification \- Delayed ossification of epiphyses Hands \- Delayed ossification of carpal bones \- Brachydactyly \- Shortening of tubular bones NEUROLOGIC Central Nervous System \- Delayed gross motor milestones LABORATORY ABNORMALITIES \- Markedly elevated lysosomal enzymes \- Elevated beta-galactosidase \- Elevated beta-mannosidase \- Elevated alpha-mannosidase \- Elevated beta-glucuronidase \- Elevated alpha-glucosaminidase \- Elevated beta-hexosaminidase MISCELLANEOUS \- Waddling gait \- Based on report of 1 patient (last curated April 2019) MOLECULAR BASIS \- Caused by mutation in the membrane-bound transcription factor protease, site-1 gene ( 603355.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
|
None
| 8,632 |
omim
|
https://www.omim.org/entry/618392
| 2019-09-22T15:42:10 |
{"omim": ["618392"], "synonyms": ["Alternative titles", "SED WITH ELEVATED BLOOD LYSOSOMAL ENZYMES"]}
|
Primary lateral sclerosis
Other namesAdult-onset primary lateral sclerosis [1]
This condition is inherited via an autosomal dominant manner[2]
SpecialtyNeurology
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
PLS only affects upper motor neurons.[3] There is no evidence of the degeneration of spinal motor neurons or muscle wasting (amyotrophy) that occurs in amyotrophic lateral sclerosis (ALS).
## Contents
* 1 Symptoms
* 1.1 Spasticity
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 References
* 7 External links
## Symptoms[edit]
Onset of PLS usually occurs spontaneously after age 50 and progresses gradually over a number of years, or even decades. The disorder usually begins in the legs, but it may start in the tongue or the hands. Symptoms may include difficulty with balance, weakness and stiffness in the legs, and clumsiness. Other common symptoms are spasticity (involuntary muscle contraction due to the stretching of muscle, which depends on the velocity of the stretch) in the hands, feet, or legs, foot dragging, and speech and swallowing problems due to involvement of the facial muscles. Breathing may also become compromised in the later stages of the disease, causing those patients who develop ventilatory failure to require noninvasive ventilatory support.[4] Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[5] Some people present with emotional lability and bladder urgency,[5] and occasionally people with PLS experience mild cognitive changes detectable on neuropsychological testing, particularly on measures of executive function.[6]
PLS is not considered hereditary when onset is in adulthood; however, juvenile primary lateral sclerosis (JPLS) has been linked to a mutation in the ALS2 gene which encodes the cell-signalling protein alsin.[7]
The issue of whether PLS exists as a different entity from ALS is not clear, as some patients initially diagnosed as having PLS ultimately develop lower motor neuron signs.[8][9] When this happens it is classed as ALS.[10]
### Spasticity[edit]
Primary lateral sclerosis (PLS) usually presents with gradual-onset, progressive, lower-extremity stiffness and pain due to muscle spasticity. Onset is often asymmetrical.[4] Although the muscles do not appear to atrophy as in ALS (at least initially), the disabling aspect of PLS is muscle spasticity and cramping, and intense pain when those muscles are stretched, resulting in joint immobility. A normal walking stride may become a tiny step shuffle with related instability and falling.[citation needed]
## Cause[edit]
Researchers do not fully understand what causes PLS, although it is thought it could be due to a combination of environmental and genetic factors.[11] Studies are being done to evaluate the possible causes, although linking causality can be difficult due to the relatively low number of people who are diagnosed with PLS.[citation needed]
Juvenile PLS may be caused by the ALS2 gene, although this condition is very rare.[citation needed]
## Diagnosis[edit]
There are no specific tests for the diagnosis of PLS. Therefore, the diagnosis occurs as the result of eliminating other possible causes of the symptoms and by an extended observation period.[12]
Like ALS, diagnosing PLS is a diagnosis of exclusion, as there is no one test that can confirm a diagnosis of PLS. The Pringle Criteria,[13] proposed by Pringle et al, provides a guideline of nine points that, if confirmed, can suggest a diagnosis of PLS. Due to the fact that a person with ALS may initially present with only upper motor neuron symptoms, indicative of PLS, one key aspect of the Pringle Criteria is requiring a minimum of three years between symptom onset and symptom diagnosis. When these criteria are met, a diagnosis of PLS is highly likely.[14] Other aspects of Pringle Criteria include normal EMG findings, thereby ruling out lower motor neuron involvement that is indicative of ALS, and absence of family history for Hereditary Spastic Paraplegia (HSP) and ALS. Imaging studies to rule out structural or demyelinating lesions may be done as well. Hoffman's sign and Babinski reflex may be present and indicative of upper motor neuron damage.[citation needed]
## Treatment[edit]
Treatment for individuals with PLS is symptomatic. Baclofen and tizanidine may reduce spasticity. Quinine or phenytoin may decrease cramps. Some patients who do not receive adequate relief from oral treatment may consider intrathecal baclofen (i.e., infusion of medication directly into the cerebrospinal fluid via a surgically placed continuous infusion pump). However, patients are carefully selected for this type of procedure to ensure that they will likely benefit from this invasive procedure.[4]
Physical therapy often helps prevent joint immobility. Speech therapy may be useful for those with involvement of the facial muscles. Physiotherapy treatment focuses on reducing muscle tone, maintaining or improving range of motion, increasing strength and coordination, and improving functional mobility. In PLS, stretching is thought to improve flexibility and can also reduce muscle spasticity and cramps.[5]
Patients with PLS may find it beneficial to have an evaluation, as well as follow-up visits at multidisciplinary clinics, similar to those available for people with ALS. These multidisciplinary clinics may provide patients with the necessary treatment that they require by having an occupational therapist, physical therapist, speech language pathologist, dietician and nutritionist, all in one site.[4]
## Prognosis[edit]
Patients can often live with PLS for many years and very often outlive their neurological disease and succumb to some unrelated condition. There is currently no effective cure, and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.[citation needed]
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Primary lateral sclerosis". www.orpha.net. Retrieved 18 May 2019.
2. ^ "OMIM Entry - % 611637 - PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1". omim.org. Retrieved 5 August 2017.
3. ^ "Motor neuron diseases". Archived from the original on April 28, 2009. Retrieved 2009-06-02.
4. ^ a b c d Primary Lateral Sclerosis at eMedicine
5. ^ a b c "Primary Lateral Sclerosis". Spastic Paraplegia Foundation. February 15, 2009. Archived from the original on January 16, 2013. Retrieved 2011-05-11.
6. ^ Grace, G. M.; Orange, J. B.; Rowe, A; Findlater, K; Freedman, M; Strong, M. J. (2011). "Neuropsychological functioning in PLS: A comparison with ALS". The Canadian Journal of Neurological Sciences. 38 (1): 88–97. doi:10.1017/S0317167100120803. PMID 21156436. INIST:23743303.
7. ^ Rollins, Yvonne D.; Oskarsson, Björn; Ringel, Steven P. (2011). "Primary lateral sclerosis". In Lisak, Robert; Truong, Daniel; Carroll, William; Bhidayasiri, Roongroj (eds.). International Neurology. John Wiley & Sons. pp. 203–4. ISBN 978-1-4443-1701-5.
8. ^ Tartaglia, Maria Carmela; Rowe, Ann; Findlater, Karen; Orange, J. B.; Grace, Gloria; Strong, Michael J. (2007). "Differentiation Between Primary Lateral Sclerosis and Amyotrophic Lateral Sclerosis". Archives of Neurology. 64 (2): 232–6. doi:10.1001/archneur.64.2.232. PMID 17296839.
9. ^ Gotkine, Marc; Argov, Zohar (2007). "Clinical Differentiation Between Primary Lateral Sclerosis and Upper Motor Neuron Predominant Amyotrophic Lateral Sclerosis". Archives of Neurology. 64 (10): 1545, author reply 1545. doi:10.1001/archneur.64.10.1545-a. PMID 17923644.
10. ^ "ICD-11 - Mortality and Morbidity Statistics". icd.who.int.
11. ^ http://www.mayoclinic.org/diseases-conditions/primary-lateral-sclerosis/symptoms-causes/dxc-20214456[full citation needed]
12. ^ "Primary Lateral Sclerosis Information Page". National Institute of Neurological Disorders and Stroke. April 23, 2010. Archived from the original on June 6, 2011. Retrieved 2011-05-11.
13. ^ Pringle, C. E.; Hudson, A. J.; Munoz, D. G.; Kiernan, J. A.; Brown, W. F.; Ebers, G. C. (1992). "Primary Lateral Sclerosis: Clinical Features, Neuropathology and Diagnostic Criteria". Brain. 115 (2): 495–520. doi:10.1093/brain/115.2.495. PMID 1606479.
14. ^ Floeter, Mary Kay; Mills, Reversa (2009). "Progression in primary lateral sclerosis: A prospective analysis". Amyotrophic Lateral Sclerosis. 10 (5–6): 339–46. doi:10.3109/17482960903171136. PMC 3434688. PMID 19922121.
## External links[edit]
Classification
D
* ICD-10: G12.2
* ICD-9-CM: 335.24
* OMIM: 606353
* MeSH: D016472
* DiseasesDB: 29150
External resources
* eMedicine: neuro/324
* Orphanet: 35689
* primary_lateral_sclerosis at NINDS
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic
Brain and spinal cord
* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis
Brain/
encephalopathy
Degenerative
Extrapyramidal and
movement disorders
* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA
* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia
* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person
Dementia
* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS
Episodic/
paroxysmal
Seizures and epilepsy
* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache
Cerebrovascular
* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases
Other
* Sleep disorders
* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension
Other
* Brain herniation
* Reye syndrome
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy
Both/either
Degenerative
SA
* Friedreich's ataxia
* Ataxia–telangiectasia
MND
* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia
* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Primary lateral sclerosis
|
c1968845
| 8,633 |
wikipedia
|
https://en.wikipedia.org/wiki/Primary_lateral_sclerosis
| 2021-01-18T18:37:18 |
{"gard": ["10684"], "mesh": ["C566900"], "umls": ["C1968845"], "orphanet": ["35689"], "wikidata": ["Q2881413"]}
|
Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Malignant non-dysgerminomatous germ cell tumor of ovary
|
None
| 8,634 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206538
| 2021-01-23T18:17:51 |
{"icd-10": ["C56"], "synonyms": ["Non-dysgerminomatous germ cell cancer of ovary"]}
|
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
## Epidemiology
The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected.
## Clinical description
Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial features, hypertelorism, eye abnormalities (nystagmus, congenital cataracts, glaucoma, retinal detachment), decreased hearing, and characteristic radiologic findings (flattened vertebral bodies, flat acetabular roof, delayed ossification of the femoral heads with degenerative changes). Decreased joint mobility and arthritis often develop early in life. Intelligence is usually unaffected.
## Etiology
SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2).
## Genetic counseling
The inheritance is autosomal dominant.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Spondyloepiphyseal dysplasia congenita
|
c2745959
| 8,635 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94068
| 2021-01-23T17:15:00 |
{"gard": ["4987"], "mesh": ["C535788"], "omim": ["183900"], "umls": ["C2745959"], "icd-10": ["Q77.7"], "synonyms": ["Congenital spondyloepiphyseal dysplasia", "SEDC", "Spranger-Wiedemann disease"]}
|
A number sign (#) is used with this entry because of evidence that hereditary sensory and autonomic neuropathy type VI (HSAN6) is caused by homozygous mutation in the DST gene (113810) on chromosome 6p12. One such family has been reported.
Description
Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).
For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Clinical Features
Edvardson et al. (2012) reported a large consanguineous family of Ashkenazi Jewish descent in which 3 infants and 1 fetus had a severe form of sensory and autonomic neuropathy with joint contractures. All had neonatal hypotonia with poor feeding and poor respiratory effort with apneic spells necessitating artificial ventilation. Features consistent with HSAN included alacrima and absent corneal reflexes with subsequent corneal scarring, decreased fungiform papillae, absent deep tendon reflexes, absence of an axon flare with intradermal histamine, recurrent hyperpyrexia, and episodic bradycardia or tachycardia with labile blood pressure. Two had episodic erythematous blotching of the skin. One was noted to have decreased pain response. Flexion contractions of the hands were present; 1 also had limited hip extension and 2 had clubfeet. Two had paucity of facial expression with persistently open mouth. Mild dysmorphic features, including low-set ears, high-arched palate, and small chin were noted in 1 infant. Brain MRI was normal in all 3 patients, and none had seizures. However, there was essentially no neurologic development, and all died by age 2 years. Edvardson et al. (2012) noted the phenotypic similarities to HSAN3 (223900).
Inheritance
The transmission pattern of hereditary sensory and autonomic neuropathy in the kindred reported by Edvardson et al. (2012) was consistent with autosomal recessive inheritance.
Molecular Genetics
By homozygosity mapping followed by whole-exome sequencing in an Ashkenazi Jewish family with hereditary sensory and autonomic neuropathy type VI, Edvardson et al. (2012) identified a homozygous truncating mutation in the DST gene (113810.0001).
INHERITANCE \- Autosomal recessive GROWTH Other \- Poor growth HEAD & NECK Face \- Paucity of facial expression \- Small chin (1 patient) Ears \- Low-set ears (1 patient) Eyes \- Alacrima \- Decreased or absent corneal reflexes \- Corneal scarring Mouth \- Persistently open mouth \- Decreased fungiform papillae on the tongue \- High-arched palate (1 patient) CARDIOVASCULAR Heart \- Bradycardia \- Tachycardia Vascular \- Labile blood pressure \- Vasomotor instability RESPIRATORY \- Respiratory insufficiency \- Poor respiratory effort \- Episodic apnea ABDOMEN Gastrointestinal \- Poor feeding SKELETAL \- Joint contractures Pelvis \- Limited hip extension Hands \- Clenched hands Feet \- Club feet SKIN, NAILS, & HAIR Skin \- Erythematous blotching, episodic \- Sweating, episodic \- Absent axonal flare response after intradermal histamine injection MUSCLE, SOFT TISSUES \- Hypotonia, neonatal NEUROLOGIC Central Nervous System \- Lack of neurologic development \- Areflexia \- Decreased pain response \- Autonomic symptoms METABOLIC FEATURES \- Unexplained fever MISCELLANEOUS \- One consanguineous family of Ashkenazi Jewish origin has been reported (last cureated May 2012) \- Death by age 2 years MOLECULAR BASIS \- Caused by mutation in the dystonin gene (DST, 113810.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
|
c3539003
| 8,636 |
omim
|
https://www.omim.org/entry/614653
| 2019-09-22T15:54:37 |
{"doid": ["0070151"], "omim": ["614653"], "orphanet": ["314381"], "synonyms": ["Hereditary sensory and autonomic neuropathy type VI", "Familial dysautonomia with contractures", "HSAN VI", "Alternative titles", "HSAN6"]}
|
A number sign (#) is used with this entry because of evidence that type I primary hyperoxaluria (HP1) is caused by homozygous or compound heterozygous mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT; 604285) on chromosome 2q37.
Description
Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009)
### Genetic Heterogeneity of Primary Hyperoxaluria
Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.
Clinical Features
Williams and Smith (1968) were able to distinguish 2 distinct genetic disorders among cases of primary hyperoxaluria. The largest proportion of patients had glycolic aciduria and hyperoxaluria, marked reduction in metabolism of C14-labeled glyoxylate or glycolate to carbon dioxide, increased conversion of glyoxylate to urinary glycolate, and a defect of the enzyme-soluble 2-oxo-glutarate:glyoxylate carboligase. However, later work (Danpure et al., 1986; Danpure and Jennings, 1988) indicated that 2-oxo-glutarate:glyoxylate carboligase is probably the same gene product as the mitochondrial matrix enzyme 2-oxoglutarate dehydrogenase (OGDH; see 203750); that the so-called soluble carboligase was probably an artifact caused by mitochondrial damage; and that in any case the latter is not deficient in this disorder. Williams and Smith (1968) found that another group of patients with primary hyperoxaluria excreted normal amounts of glycolic acid but large amounts of l-glyceric acid, more consistent with HP2.
Lindenmayer (1970) reported on 4 cases of oxalosis in 3 sibships. He traced 5 of the 6 parents to a common ancestral couple born in the 1700s. A useful review of published cases was provided.
Coltart and Hudson (1971) reported a girl with oxalosis in whom deposition of oxalate in the cardiac conduction system caused fatal heart block.
Boquist et al. (1973) reported a 46-year-old man with primary oxalosis who had onset of symptoms as an adult characterized by elevated levels of serum and urinary oxalic acid, as well as increased urinary excretion of glycolic and glyoxylic acid. He developed uremia and was treated with dialysis, but the disease progressed, with the appearance of polyneuropathy and peripheral ischemic changes leading to atrophy and gangrene. He died in uremia after 14 months of hemodialysis. Boquist et al. (1973) suggested that hemodialysis should not be utilized in patients with primary oxalosis. There was a family history of the disorder. Postmortem examination showed calcium oxalate deposits in the kidneys, including the glomeruli, interstitium, and tubular epithelial cells and lumens, myocardium, spongy bone, prostate, testes, striated muscles, aorta, inferior vena caval vein, and in numerous arteries and arterioles. The oxalate crystals were believed to be primarily formed intracellularly in the various organs. Additional findings were chronic pyelonephritis, degeneration of peripheral nerve fibers and perineural fibrosis. There was a family history of the disorder. The authors noted the unusually long survival of this patient.
Dennis et al. (1980) found that another complication of the disorder is peripheral vascular insufficiency resulting from spasm or arterial occlusion. Raynaud phenomenon, livedo reticularis, acrocyanosis, spasms of large arteries, gangrene and intermittent claudication have also been reported (Dennis et al., 1980); these are late complications in patients with uremia.
Morris et al. (1982) reported 3 infants with nephrocalcinosis and terminal renal failure due to oxalosis. All 3 had widespread oxalate deposition. Although biochemical evidence of primary hyperoxaluria was sought, the presence of severe renal failure and the lack of established normal values for urinary and plasma oxalate and glycollate in infants made the diagnosis difficult to establish. At least 1 patient appeared to have type I, since plasma glycolate was elevated. Morris et al. (1982) commented that it was unusual for primary oxalosis to display so early an onset and so rapid a course.
Chesney et al. (1983) reported a girl with HP1 who presented with renal failure at age 5 years and underwent bilateral renal transplants. A large radiopaque stone developed in 1 ureter after surgery. She had frequent pathologic fractures through large radiolucent areas that initially were interpreted as osteitis fibrosa cystica, but were found histologically to be areas of massive calcium oxalate deposition with localized histiocytic destruction of bone. The patient also had extensive soft-tissue calcification limiting motion in several joints. Material extruded from some of these deposits represented oxalates. Calcium oxalate crystals were extruded from under the patient's nails.
Danpure et al. (1989) reported 2 unrelated patients with HP1. One was a 16-year-old boy with a history of calcium oxalate kidney stones, hyperoxaluria, and hyperglycolic aciduria who had reached end-stage renal failure and was on dialysis. Residual AGXT activity was 8.7%. The second patient was a 33-year-old man with a milder form of the disorder, a history of calcium oxalate kidney stones, and a favorable response to pyridoxine treatment. Residual AGXT activity was 27.1%.
Small et al. (1990) examined 24 patients with primary hyperoxaluria and found that 8 had a crystalline retinopathy; 3 of the 8 also had optic neuropathy.
Theodossiadis et al. (2002) reported a 22-year-old man with type I primary hyperoxaluria who developed slowly progressive visual loss due to crystalline retinopathy. He then developed rapid, severe visual loss in both eyes. Fluorescein angiography confirmed the presence of choroidal neovascularization in both eyes at the edges of his previous macular scars. The authors concluded that mechanical factors from oxalate deposition may promote choroidal neovascularization.
Biochemical Features
Danpure and Jennings (1986) demonstrated that total alanine:glyoxylate aminotransferase levels were reduced in 2 patients with primary hyperoxaluria type I. In 1 patient, reduction in enzyme activity was found to be due to complete absence of the peroxisomal form of the enzyme.
Danpure et al. (1987) found that AGT activity, assayed in unfractionated liver tissue, ranged from 11 to 47% of the mean control value and appeared to be related to the clinical severity of the disorder and to several biochemical variables that indicate the degree of pathophysiologic derangement.
Danpure (1988) indicated that deficiency of AGT had been demonstrated in 27 patients with this disorder. The finding is compatible with earlier work showing that a few patients respond to pyridoxine; pyridoxal phosphate is a cofactor for AGT. Both soluble and mitochondrial alpha-ketoglutarate glyoxylate carboligase activity of muscle were normal in a patient with l-glycolic hyperoxaluria reported by Bourke et al. (1972). The patient may have suffered from a different disorder, or the enzyme of muscle may be an isozyme of that in liver, spleen and kidney which was deficient in this patient.
In liver tissue isolated from a patient with a severe form of HP1 with 8.7% residual AGXT activity, Danpure et al. (1989) showed that the AGXT activity was entirely within mitochondria, rather than in peroxisomes. In contrast, control liver AGXT was localized entirely within peroxisomes. The findings indicated that the defect resulted from intracellular rerouting of the AGXT enzyme.
Danpure (1993) published a review of primary hyperoxaluria type 1, including a discussion of mitochondrial targeting sequences and peroxisomal targeting sequences.
Diagnosis
Yendt and Cohanim (1985) noted that the diagnosis in some screened patients may be obscured if the subject is ingesting a pyridoxine-rich diet or multivitamin tablets containing even small amounts of pyridoxine.
Danpure et al. (1987) suggested that this disorder can be diagnosed by percutaneous hepatic needle biopsy in assay of AGT, the activity of which may be useful in determining the prognosis and likely severity of the disease.
### Prenatal Diagnosis
Danpure et al. (1988) showed that prenatal diagnosis can be made by study of fetal liver tissue obtained by ultrasound-guided needle aspiration. They were able to exclude the diagnosis by the finding of normal AGT activity and normal immunoreactive AGT protein in the liver of a fetus at risk.
Danpure and Rumsby (1996) reviewed the strategies that had been adopted over the previous 13 years for the prenatal diagnosis of this disorder. These included (1) glyoxylate metabolite analysis of amniotic fluid in the second trimester; (2) AGT enzyme assay, immunoassay, and immunoelectron microscopy of fetal liver biopsies, also in the second trimester; and (3) linkage and mutation analysis of DNA isolated from chorionic villus samples in the first trimester. The methods have evolved in parallel with increasing understanding of the molecular etiology and pathogenesis of the disease. Danpure and Rumsby (1996) stated that, although the usefulness of metabolite analysis remained unproven, all the other methods had been successfully applied to the prenatal diagnosis of this disorder.
Clinical Management
### Management with Oral Medications
Will and Bijvoet (1979) observed favorable clinical and biochemical response to oral B6 treatment in primary hyperoxaluria. Pyridoxine (B6) is a cofactor in the alanine-glyoxylate transaminase enzyme pathway.
In 2 patients with type I primary hyperoxaluria, Yendt and Cohanim (1985) found that pyridoxine in a physiologic dose of 2 mg per day caused a marked fall in urinary oxalate and glycolate excretion and that excretion became completely normal when the dose was increased to 25 mg per day. In 2 other patients, who also differed by having normal urinary glycolate excretion, higher doses of pyridoxine were required: in 1, 200 mg per day produced moderate reduction in oxalate excretion and in the other, 25 mg per day had that effect.
Pyridoxine in high dosage is beneficial (O'Regan and Joekes, 1980), but since sensory neuropathy from high doses of pyridoxine has been observed (Berger and Schaumburg, 1984), use of low dosage is desirable. Orthophosphate prevents the progress of calcium oxalate stones. Small doses of a thiazide diuretic may be useful.
Milliner et al. (1994) reported experience with the treatment of primary hyperoxaluria with orthophosphate and pyridoxine in 25 patients treated for an average of 10 years (range, 0.3 to 26). They concluded that double therapy decreases urinary calcium oxalate crystallization and helps preserve renal function. Pyridoxine may be helpful even when renal failure has set in. If renal transplantation is necessary, these measures may help avoid damage to the transplanted kidney.
### Renal and Hepatic Transplantation
Klauwers et al. (1969) had demonstrated that renal transplantation in primary oxalosis is unsuccessful because the donor kidney becomes involved, causing functional failure.
Watts et al. (1985) reported failure of renal transplant because of oxalate deposits. Thereafter, combined liver and renal transplantation was done. The postoperative observations were compatible with correction of the metabolic lesion by the grafted liver; the patient died of complications of immunosuppressive therapy. Watts et al. (1987) reported the successful treatment of a 23-year-old patient with combined hepatic and renal transplantation. The metabolic lesion was corrected by replacement of the deficient hepatic enzyme activity. Two previous renal transplants had failed, including 1 from a live, related donor.
McDonald et al. (1989) described a 38-year-old man in whom kidney transplantation and later liver transplantation were performed with correction of the metabolic defect and resorption of deposits of oxalate in the renal allograft. This patient was described also by Baethge et al. (1988) as an instance of livedo reticularis and peripheral gangrene due to oxalate sludge. The patient also had third-degree heart block, a recognized complication of oxalosis (Massie et al., 1981), which resolved after transplantation.
Latta and Brodehl (1990) reviewed the disorder on the basis of data from 330 published cases. They emphasized that whereas kidney transplantation is associated with a high rate of recurrence, liver transplantation offers the possibility of correcting the metabolic defect and preventing progression of crystal deposits. Attempts at prenatal diagnosis by analysis of organic acids in amniotic fluid have been unsuccessful.
Gruessner (1998) described a 22-month-old child with primary hyperoxaluria type I who received a liver transplant from her father. Eight months after transplantation and despite the use of nephrotoxic tacrolimus-based immunosuppressive therapy, her kidney function was stable, without the need for dialysis or kidney transplantation. The patient had presented at 5 weeks of age with dehydration, uremia, and nephrocalcinosis, as demonstrated by ultrasound. Kidney biopsy at the time of transplantation of the 320-gm liver from the father showed moderate to severe oxalosis. Eight months after transplantation, the urine oxalate concentration was normal.
Walden et al. (1999) reported a 6-year follow-up of a 10-year-old male patient who underwent hepatorenal transplantation at the age of 4 years. The boy showed significant catch-up growth, with height standard deviation score for chronologic age improving from -2.4 before transplantation to -0.3 after 6 years. Radiologic bone density improved at the same time.
Cochat et al. (1999) conducted a questionnaire survey of cases of primary hyperoxaluria type I in specialized centers worldwide. They identified 78 infants, of whom 44% were of Muslim origin and 56% were non-Muslim. The consanguinity rate was 76% and 0%, respectively. Thirty-three percent were treated in developing countries (group 1) and 67% in developed countries (group 2). Initial presentation (4.9 +/- 2.8 months) consisted of failure to thrive (22%), urinary tract infection (21%), and uremia (14%). Radiologic findings included nephrocalcinosis (91%), urolithiasis (44%), or both (22%). The diagnosis was based on family history, tissue biopsy, and urine oxalate levels in most patients from group 1, and on urine oxalate and glycolate levels, alanine:glyoxalate aminotransferase activity, and DNA analysis in patients from group 2. Therapeutic withdrawal was the final option for 40% of the children; financial reasons were given for 10 of 17 patients from group 1 and none of 9 patients from group 2. End-stage renal disease started at 3.2 +/- 6.4 years of age and was present in half of the patients at the time of diagnosis. Fifty-two percent of the patients died: 82% in group 1 versus 33% in group 2; 33% of patients who underwent transplantation died versus 71% of those who did not. Cochat et al. (1999) pointed out that the management of this disorder is a major example of the ethical, epidemiologic, technical, and financial challenges that are raised by autosomal recessive diseases with early life-threatening onset. In certain circumstances, oxalosis can be regarded as a condition for which therapeutic withdrawal may be an acceptable option.
Molecular Genetics
In a patient with primary hyperoxaluria type I, Nishiyama et al. (1991) identified a mutation in the AGXT gene (S205P; 604285.0001). SPT activity was approximately 1% of that in control liver.
Purdue et al. (1990) found that approximately one-third of patients with type I primary hyperoxaluria have an allele carrying 2 point mutations: P11L (604285.0002) and G170R (604285.0013). Purdue et al. (1991) showed that the substitution of P11L variant is necessary and sufficient for the generation of a mitochondrial targeting sequence (MTS) in the AGT protein such that it is incorrectly targeted to the mitochondria instead of to the peroxisome. Although the P11L mutation creates an MTS, the G170R mutation appeared to be necessary for redirection of AGT to the mitochondria, presumably by interfering with the mechanism of targeting to peroxisomes.
In 15 unrelated Italian patients with primary hyperoxaluria type I, Pirulli et al. (1999) identified the mutant AGXT alleles in each individual and found 8 new mutations. The screening strategy made use of the SSCP technique, followed by sequencing of bands with abnormal mobility derived from the AGXT exons. The most frequent mutation was G630A (604285.0013), accounting for 30% of alleles, followed by G588A (604285.0012), with a 13% frequency. Ten of the 15 patients were homozygotes; in only 1 case were the parents identified as first cousins. Pirulli et al. (1999) stated that a total of 7 polymorphisms and 17 mutations had been identified in the AGXT gene, including the 8 new mutations they found.
In a mutation update of the AGXT gene, Williams et al. (2009) stated that 146 mutations had been identified to date, with all exons of the AGXT gene represented. The authors identified 50 novel mutations in patients with HP1. There were no apparent genotype/phenotype correlations.
Fargue et al. (2013) showed that 3 disease-causing missense mutations, I244T (604285.0007), F152I (604285.0006), and G41R (604285.0005), which occur on the background of the minor allele characterized by the P11L polymorphism, can, like G170R, unmask the cryptic P11L-generated mitochondrial targeting sequence and result in AGT protein being mistargeted to mitochondria. These 4 missense mutations together constitute 40% of HP1 alleles.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Optic atrophy \- Retinopathy \- Choroidal neovascularization \- Mild vision impairment Teeth \- Root resorption \- Pulp exposure \- Tooth mobility CARDIOVASCULAR Heart \- Heart block Vascular \- Peripheral vascular insufficiency \- Arterial spasm \- Arterial occlusion \- Raynaud phenomenon \- Intermittent claudication \- Gangrene GENITOURINARY Kidneys \- Calcium oxalate urolithiasis \- Nephrocalcinosis \- Hematuria \- Renal failure SKELETAL \- Bone pain \- Pathologic fractures \- Osteosclerosis SKIN, NAILS, & HAIR Skin \- Livedo reticularis \- Calcinosis cutis metastatica \- Acrocyanosis NEUROLOGIC Peripheral Nervous System \- Peripheral neuropathy METABOLIC FEATURES \- Metabolic acidosis LABORATORY ABNORMALITIES \- Hyperoxaluria \- Hyperoxalemia \- Hyperglycolic aciduria \- Diffuse deposition of calcium oxalate in various tissues \- Decreased AGT activity MISCELLANEOUS \- Variable age at onset, but usually in childhood \- Most patients die of renal failure in early adulthood \- About 10% of patients have a severe early onset in the first months of life \- Incidence of 1 in 120,000 live births MOLECULAR BASIS \- Caused by mutation in the alanine-glyoxylate aminotransferase gene (AGXT, 604285.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
HYPEROXALURIA, PRIMARY, TYPE I
|
c0268164
| 8,637 |
omim
|
https://www.omim.org/entry/259900
| 2019-09-22T16:23:48 |
{"mesh": ["C536414"], "omim": ["259900"], "orphanet": ["93598", "416"], "synonyms": ["Alternative titles", "OXALOSIS I", "GLYCOLIC ACIDURIA", "ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY", "PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY", "HEPATIC AGT DEFICIENCY", "SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY"], "genereviews": ["NBK1283"]}
|
"Dermanyssosis" redirects here. For similar conditions, see Acariasis.
Gamasoidosis
Other namesAcariasis, Avian mite dermatitis or Bird mite dermatitis[1]
Dermanyssus gallinae piercing skin with its long chelicerae to reach dermal capillaries (not to scale).
SpecialtyDermatology
Gamasoidosis or dermanyssosis is a frequently unrecognized ectoparasitosis[2] and source of growing concern in human medicine,[3] occurring after contact with avian mites which infest canaries,[4] sparrows, starlings, pigeons[5] and poultry[6] and caused by two genera of mites, Ornithonyssus and Dermanyssus.[7] Avian mite species implicated include the red mite (Dermanyssus gallinae),[8] tropical fowl mite (Ornithonyssus bursa)[9] and northern fowl mite (Ornithonyssus sylviarum)[8]. Mite dermatitis is also associated with rodents infested with the tropical rat mite (Ornithonyssus bacoti),[10][11] spiny rat mite (Laelaps echidnina)[12] and house-mouse mite (Liponyssoides sanguineus), where the condition is known as rodent mite dermatitis.[13] Urban gamasoidosis is associated with window-sills, ventilation and air-conditioning intakes, rooves and eaves, which serve as shelters for nesting birds. Humans bitten by these mites experience a non-specific dermatitis with intense itching.[14][15]
## Contents
* 1 Clinical signs
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 See also
* 6 References
## Clinical signs[edit]
The most common symptoms are "itching and punctiform, erythematous papules"[14] with a size of "1–3 mm"[3] and a "central punctum",[16] the itching and irritation are reactions to the saliva the mites secrete when feeding.[9]
Bites are normally located in groups around the neck and body areas covered by clothes (waist, trunk, upper extremities and abdomen),[3][10][17] but can also be found on the legs,[14] finger webs, axillae, the groin, and buttocks.[17] If feeding occurs while a patient is sleeping, bedclothes and pillows may show red spots caused by droppings or crushed mites.[3]
D. gallinae is capable of infesting the ear canal, with symptoms including itching, internal inflammation and discharge.[18] It can also infest the scalp, with severe itching — particularly at night as the primary symptom[19] — as well as "the nares, orbits and eyelids, and genitourinary and rectal orifices.“[20]
Additional symptoms include pinpricks, secondary infections, scarring, hyperpigmentation as well as psychological trauma resulting in anxiety and depression.[21]
## Diagnosis[edit]
Diagnosis can be challenging as the small size of avian mites make them "barely visible to the unaided eye".[22] Identification of the species is best carried out by a medical entomologist using a microscope,[8] positive identification of species is critical for recommendation of suitable treatment. Samples can be obtained using corrugated cardboard traps, left in infested areas.[23]
Diagnoses of gamasoidosis have a long history, with "cases [...] reported since the 17th century, documented in the leading medical literature since at least the 1920s."[24] Avian and rodent mites have been documented infesting residential buildings, work spaces, schools and hospitals.[10][24] Despite this, there is considered to be widespread ignorance and misinformation "regarding human infestation with D. gallinae across healthcare, science and pest control fields", which in turn has led to increasing numbers of infestations and a dangerous propagation of the disease.[21]
Due to it being an uncommon diagnosis, physicians are generally not aware of the condition,[3] meaning gamasoidosis may be misdiagnosed as scabies or pediculosis[25] or bites mistakenly identified as coming from bed bugs.[26] Many cases of gamasoidosis go unreported, suggesting that the actual incidence is higher than generally believed.[6] As a result, in cases of unexplained bites in residential areas, the involvement of D. gallinae should always be considered,[14] especially during late spring and early summer when wild birds make their nests.[17]
Mite bite on the chest of a patient.
The life cycle of the mite is another important method of diagnosis.[21] Hematophagic mites generally feed at night[27] but may also feed during the day if the room is sufficiently dark.[28] Attacks in public and office buildings tend to occur during the daytime.[3] O. bursa is an exception as it generally remains on its hosts and will feed during the day.[29] D. gallinae may be commonly found in the bedroom or where the patient sleeps, as they prefer to stay close to their host for optimal feeding.[30] They are attracted to warm hiding places that simulate the body temperature of birds (e.g. pigeons 42 °C), "such as the electrical devices running in stand-by mode (e.g. laptop computers, television, radio clocks etc.)" which generate heat. As a result, "it is strongly recommended to check these electrical appliances for the mite detection".[14] D. gallinae generally visit their host for up to 1–2 hours, leave after completing their blood meal[14] and typically feed every 2–4 days.[24] They are able to move extremely quickly[16] and can take less than 1 second to bite, enough time to inject their saliva and to induce rash and itching.[14] They locate potential hosts through temperature changes,[14] vibration and CO
2.[31][32]
It has been hypothesized the D. gallinae is capable of 'learning'[33] "to associate non-host skin with a blood-meal if the host selection process permitted feeding."[24] Combined with a generalist approach to finding hosts and the capability of digesting non-avian blood could potentially explain their documented host expansion to mammals and humans.[24]
There is documented "co-occurrence of gamasoidosis and various immunosuppressive disorders"[24] and physicians should bear in mind that immunocompromised patients, patients that take corticosteroids, and patients with dementia may have a more severe infestation than healthy patients,[21] Despite this, while immunosuppression can "increase susceptibility, it is not necessarily a pre-requisite for infestation".[24]
Dermatoscopy can help to exclude the diagnosis of delusional parasitosis.[2]
Pets such as canaries,[14] cats,[34] dogs[35] and gerbils[16] can be infested also, diagnosis can be made by examining their feathers or fur for mites and is best carried out by a veterinary professional.
## Treatment[edit]
Treatment of gamasoidosis can be difficult; avian mites have developed resistance to multiple pesticides and the different species concerned display varied ecologies that necessitate divergent treatment approaches.[21]
For a patient to achieve full recovery, the mites must be eradicated from the person's environment through the removal of nests and appropriate disinfestation of infested areas by a pest control professional.[15] Total eradication can be difficult to achieve as D. gallinae can survive for longer than nine months without a blood meal[36][37] and is capable of both digesting[38] and completing its life cycle on human blood alone.[19] Additionally, populations can expand rapidly, with a single female capable of laying up to "30 eggs in their lifetime";[39] prolonged darkness has been found to significantly promote mite population growth.[40]
Feral pigeon nests are common sources of avian mites and should be removed as part of the treatment process.
Patients are advised to:[3][14]
* Shower frequently to remove mites from their skin and hair.
* Washing clothes and bedding at temperatures, at or above 60 °C.
* Remove the source of the mites, such as infested animal shelters, cages and nests.
* Perform regular intensive vacuum cleaning and steam cleaning — the vacuum bag should be placed in a sealed bag and thrown away outside in a contained bin.
* Disinfect infested household items and areas with effective acaricides such as pyrethroids.
* Washing of textiles or steam cleaning (cushions, carpets, curtains) at or above 60 °C, and drying them using an automated laundry drier.
* Dust infested areas with amorphous silica gels[41] such as CimeXa.[42]
* Heat treat their residence — raising the temperature of their living space above 55 °C for a sustained period.
* Reduce the relative humidity of their home below 55%.[36]
Fluralaner, an effective acaricide, available commercially as Bravecto[43] may be administered to cats and dogs after consulting a vet.
Antihistamines and topical corticosteroids can be used for temporary relief of symptoms.[44]
Certain essential oils are known to have an acaricide effect on avian mites.[45] Cardboard traps impregnated with neem extracts or other acaricides[46] can be used to reduce avian mite populations.[47]
In the case of scalp infestation, treatments with 1% permethrin shampoo can be used to remove the mites.[27] For ear canal infestation, aural toilet is recommended with a course of 1% permethrin to be used as ear drops and for infected wax to be removed by a professional.[18]
Ineffective and often prolonged attempts to eradicate infestations commonly result in economic issues, due to a significant financial outlay when patients relocate or attempt to control these infestations.[21]
## Epidemiology[edit]
D. gallinae poses a significant threat to public health as the mite may be a vector/reservoir of several zoonotic pathogens,[24] such as Chlamydia psittaci, Erysipelothrix rhusiopathiae, Salmonella spp., Lyme disease,[24] Mycobacterium spp., Coxiella burnetii, Bartonella spp.,[26] Borrelia burgdorferi,[48] Venezuelan equine encephalitis virus, Eastern equine encephalitis virus, and Fowlpox virus.[49]
## See also[edit]
* Acariasis
* Chigger bite
* Rodent mite dermatitis
* Skin lesion
## References[edit]
1. ^ Kowalska M, Kupis B (1976). "Gamasoidosis (gamasidiosis)-not infrequent skin reactions, frequently unrecognized". Polish Medical Sciences and History Bulletin. 15–16 (4): 391–4. PMID 826895.
2. ^ a b Wambier CG, Wambier SP (2012). "Gamasoidosis illustrated--from the nest to dermoscopy". Anais Brasileiros de Dermatologia. 87 (6): 926–7. doi:10.1590/S0365-05962012000600021. PMC 3699918. PMID 23197219.
3. ^ a b c d e f g Cafiero MA, Barlaam A, Camarda A, Radeski M, Mul M, Sparagano O, Giangaspero A (September 2019). "Dermanysuss gallinae attacks humans. Mind the gap!". Avian Pathology. 48 (sup1): S22–S34. doi:10.1080/03079457.2019.1633010. PMID 31264450.
4. ^ Sulzberger MB (1936-01-01). "Avian Itch Mites as a Cause of Human Dermatoses". Archives of Dermatology and Syphilology. 33 (1): 60. doi:10.1001/archderm.1936.01470070063006.
5. ^ Sparagano OA, George DR, Harrington DW, Giangaspero A (2014). "Significance and control of the poultry red mite, Dermanyssus gallinae". Annual Review of Entomology. 59: 447–66. doi:10.1146/annurev-ento-011613-162101. PMID 24397522.
6. ^ a b Sigognault Flochlay A, Thomas E, Sparagano O (August 2017). "Poultry red mite (Dermanyssus gallinae) infestation: a broad impact parasitological disease that still remains a significant challenge for the egg-laying industry in Europe". Parasites & Vectors. 10 (1): 357. doi:10.1186/s13071-017-2292-4. PMC 5537931. PMID 28760144.
7. ^ James WD, Timothy G B, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
8. ^ a b c Orton DI, Warren LJ, Wilkinson JD (March 2000). "Avian mite dermatitis". Clinical and Experimental Dermatology. 25 (2): 129–31. doi:10.1046/j.1365-2230.2000.00594.x. PMID 10733637.
9. ^ a b Mentz MB, Silva GL, Silva CE (2015). "Dermatitis caused by the tropical fowl mite Ornithonyssus bursa (Berlese) (Acari: Macronyssidae): a case report in humans". Revista da Sociedade Brasileira de Medicina Tropical. 48 (6): 786–8. doi:10.1590/0037-8682-0170-2015. PMID 26676510.
10. ^ a b c Cafiero MA, Raele DA, Mancini G, Galante D (July 2016). "Dermatitis by Tropical Rat Mite, Ornithonyssus bacoti (Mesostigmata, Macronyssidae) in Italian city-dwellers: a diagnostic challenge". Journal of the European Academy of Dermatology and Venereology. 30 (7): 1231–3. doi:10.1111/jdv.13162. PMID 25912467.
11. ^ Hetherington GW, Holder WR, Smith EB (March 1971). "Rat mite dermatitis". JAMA. 215 (9): 1499–500. doi:10.1001/jama.1971.03180220079019. PMID 5107633.
12. ^ Watson J (2008-01-01). "New building, old parasite: Mesostigmatid mites--an ever-present threat to barrier facilities". ILAR Journal. 49 (3): 303–9. doi:10.1093/ilar.49.3.303. PMC 7108606. PMID 18506063.
13. ^ Alexander JO (1984). "Infestation with Gamasid Mites". Arthropods and Human Skin. Springer, London. pp. 303–315. doi:10.1007/978-1-4471-1356-0_17. ISBN 9781447113584.
14. ^ a b c d e f g h i j Cafiero MA, Galante D, Raele DA, Nardella MC, Piccirilli E (2017). "Outbreaks of Dermanyssus gallinae (Acari, Mesostigmata) Related Dermatitis in Humans in Public and Private Residences. Italy (2001-2017): An Expanding Skin Affliction". J Clin Case Rep. 7 (1035): 2.
15. ^ a b Cafiero MA, Camarda A, Galante D, Mancini G, Circella E, Cavaliere N, Santagada G, Caiazzo M, Lomuto M (2013). "Outbreaks of red mite (Dermanyssus gallinae) dermatitis in city-dwellers: an emerging urban epizoonosis". Hypothesis in Clinical Medicine: 413–24.
16. ^ a b c Lucky AW, Sayers C, Argus JD, Lucky A (February 2001). "Avian mite bites acquired from a new source--pet gerbils: report of 2 cases and review of the literature". Archives of Dermatology. 137 (2): 167–70. PMID 11176688.
17. ^ a b c Kong TK, To WK (April 2006). "Images in clinical medicine. Bird-mite infestation". The New England Journal of Medicine. 354 (16): 1728. doi:10.1056/nejmicm050608. PMID 16625011.
18. ^ a b Rossiter A (April 1997). "Occupational otitis externa in chicken catchers". The Journal of Laryngology and Otology. 111 (4): 366–7. doi:10.1017/s0022215100137338. PMID 9176622.
19. ^ a b Pampiglione S, Pampiglione G, Pagani M, Rivasi F (September 2001). "[Persistent scalp infestation by Dermanyssus gallinae in an Emilian country-woman]". Parassitologia. 43 (3): 113–5. PMID 11921537.
20. ^ Ahmed N, El-Kady A, Abd Elmaged W, Almatary A (2018-08-01). "Dermanyssus gallinae (Acari: Dermanyssidae) a cause of recurrent papular urticaria diagnosed by light and electron microscopy". Parasitologists United Journal. 11 (2): 112–118. doi:10.21608/PUJ.2018.16320. ISSN 1687-7942.
21. ^ a b c d e f Sparagano O, Finn R, Mul M, Giangaspero A, Cafiero MA, Willingham N, Lyons K, Lovers A, George D (2017). "The emergence of Dermanyssus gallinae as an arthropod pest in urban context and the "one Health" approach". Proceedings of the Ninth International Conference on Urban Pests: 203–208.
22. ^ "Pruritic Dermatitis Caused by Bird Mite Infestation". Cutis. 97 (1). 2016-01-01.
23. ^ Nordenfors H, Chirico J (December 2001). "Evaluation of a sampling trap for Dermanyssus gallinae (Acari: Dermanyssidae)". Journal of Economic Entomology. 94 (6): 1617–21. doi:10.1603/0022-0493-94.6.1617. PMID 11777073.
24. ^ a b c d e f g h i George DR, Finn RD, Graham KM, Mul MF, Maurer V, Moro CV, Sparagano OA (March 2015). "Should the poultry red mite Dermanyssus gallinae be of wider concern for veterinary and medical science?". Parasites & Vectors. 8: 178. doi:10.1186/s13071-015-0768-7. PMC 4377040. PMID 25884317.
25. ^ Regan AM, Metersky ML, Craven DE (December 1987). "Nosocomial dermatitis and pruritus caused by pigeon mite infestation". Archives of Internal Medicine. 147 (12): 2185–7. doi:10.1001/archinte.1987.00370120121021. PMID 3689070.
26. ^ a b Cafiero MA, Viviano E, Lomuto M, Raele DA, Galante D, Castelli E (July 2018). "Dermatitis due to Mesostigmatic mites (Dermanyssus gallinae, Ornithonyssus [O.] bacoti, O. bursa, O. sylviarum) in residential settings". Journal of the German Society of Dermatology. 16 (7): 904–906. doi:10.1111/ddg.13565. PMID 29933524.
27. ^ a b Pezzi M, Leis M, Chicca M, Roy L (October 2017). "Gamasoidosis caused by the special lineage L1 of Dermanyssus gallinae (Acarina: Dermanyssidae): A case of heavy infestation in a public place in Italy". Parasitology International. 66 (5): 666–670. doi:10.1016/j.parint.2017.05.001. PMID 28483708.
28. ^ Bardach H (January 1981). "[Acariasis due to dermanyssus gallinae (gamosoidosis) in Vienna (author's transl)]". Zeitschrift für Hautkrankheiten. 56 (1): 21–6. PMID 7222880.
29. ^ Powlesland R (1978-06-01). "Behaviour of the haematophagous mite Ornithonyssus bursa in starling nest boxes in New Zealand". New Zealand Journal of Zoology. 5 (2): 395–399. doi:10.1080/03014223.1978.10428325.
30. ^ Williams RW (November 1958). "An infestation of a human habitation by Dermanyssus gallinae (Degeer, 1778) (Acarina: Dermanyssidae) in New York City resulting in sanguisugent attacks upon the occupants". The American Journal of Tropical Medicine and Hygiene. 7 (6): 627–9. doi:10.4269/ajtmh.1958.7.627. PMID 13595207.
31. ^ Kilpinen O, Mullens BA (December 2004). "Effect of food deprivation on response of the mite, Dermanyssus gallinae, to heat". Medical and Veterinary Entomology. 18 (4): 368–71. doi:10.1111/j.0269-283X.2004.00522.x. PMID 15642003.
32. ^ Kilpinen O (2005). "How to obtain a bloodmeal without being eaten by a host: the case of poultry red mite, Dermanyssus gallinae". Physiological Entomology. 30 (3): 232–240. doi:10.1111/j.1365-3032.2005.00452.x. ISSN 0307-6962.
33. ^ Dukas R (2008). "Evolutionary biology of insect learning". Annual Review of Entomology. 53 (1): 145–60. doi:10.1146/annurev.ento.53.103106.093343. PMID 17803459. S2CID 18299890.
34. ^ Di Palma A, Leone F, Albanese F, Beccati M (April 2018). "A case report of Dermanyssus gallinae infestation in three cats". Veterinary Dermatology. 29 (4): 348–e124. doi:10.1111/vde.12547. PMID 29708634.
35. ^ Ramsay GW, Mason PC, Hunter AC (July 1975). "Letter: Chicken mite (Dermanyssus gallines) infesting a dog". New Zealand Veterinary Journal. 23 (7): 155–6. doi:10.1080/00480169.1975.34225. PMID 1058385.
36. ^ a b Nordenfors H, Höglund J, Uggla A (January 1999). "Effects of temperature and humidity on oviposition, molting, and longevity of Dermanyssus gallinae (Acari: Dermanyssidae)". Journal of Medical Entomology. 36 (1): 68–72. doi:10.1093/jmedent/36.1.68. PMID 10071495. S2CID 14208397.
37. ^ Kirkwood A (1963-12-01). "Longevity of the mites Dermanyssus gallinae and Liponyssus sylviarum". Experimental Parasitology. 14 (3): 358–366. doi:10.1016/0014-4894(63)90043-2. ISSN 0014-4894. PMID 14099848.
38. ^ Williams RW (November 1958). "An infestation of a human habitation by Dermanyssus gallinae (Degeer, 1778) (Acarina: Dermanyssidae) in New York City resulting in sanguisugent attacks upon the occupants". The American Journal of Tropical Medicine and Hygiene. 7 (6): 627–9. doi:10.4269/ajtmh.1958.7.627. PMID 13595207.
39. ^ Chauve C (November 1998). "The poultry red mite Dermanyssus gallinae (De Geer, 1778): current situation and future prospects for control". Veterinary Parasitology. 79 (3): 239–45. doi:10.1016/S0304-4017(98)00167-8. PMID 9823064.
40. ^ Wang C, Ma Y, Huang Y, Su S, Wang L, Sun Y, et al. (May 2019). "Darkness increases the population growth rate of the poultry red mite Dermanyssus gallinae". Parasites & Vectors. 12 (1): 213. doi:10.1186/s13071-019-3456-1. PMC 6505187. PMID 31064400.
41. ^ Schulz J, Berk J, Suhl J, Schrader L, Kaufhold S, Mewis I, et al. (September 2014). "Characterization, mode of action, and efficacy of twelve silica-based acaricides against poultry red mite (Dermanyssus gallinae) in vitro". Parasitology Research. 113 (9): 3167–75. doi:10.1007/s00436-014-3978-6. PMID 24908434.
42. ^ "Does Cimexa kill mites as well?". www.domyown.com. Retrieved 2019-09-29.
43. ^ Brauneis MD, Zoller H, Williams H, Zschiesche E, Heckeroth AR (December 2017). "The acaricidal speed of kill of orally administered fluralaner against poultry red mites (Dermanyssus gallinae) on laying hens and its impact on mite reproduction". Parasites & Vectors. 10 (1): 594. doi:10.1186/s13071-017-2534-5. PMC 5712167. PMID 29197422.
44. ^ Dogramaci AC, Culha G, Ozçelik S (September 2010). "Dermanyssus gallinae infestation: an unusual cause of scalp pruritus treated with permethrin shampoo". The Journal of Dermatological Treatment. 21 (5): 319–21. doi:10.3109/09546630903287437. PMID 20687864.
45. ^ Kim SI, Yi JH, Tak JH, Ahn YJ (April 2004). "Acaricidal activity of plant essential oils against Dermanyssus gallinae (Acari: Dermanyssidae)". Veterinary Parasitology. 120 (4): 297–304. doi:10.1016/j.vetpar.2003.12.016. PMID 15063940.
46. ^ Chirico J, Tauson R (December 2002). "Traps containing acaricides for the control of Dermanyssus gallinae". Veterinary Parasitology. 110 (1–2): 109–16. doi:10.1016/S0304-4017(02)00310-2. PMID 12446095.
47. ^ Lundh J, Wiktelius D, Chirico J (June 2005). "Azadirachtin-impregnated traps for the control of Dermanyssus gallinae". Veterinary Parasitology. 130 (3–4): 337–42. doi:10.1016/j.vetpar.2005.02.012. PMID 15890446.
48. ^ Raele DA, Galante D, Pugliese N, La Salandra G, Lomuto M, Cafiero MA (May 2018). "Mesostigmata, Acari), related to urban outbreaks of dermatitis in Italy". New Microbes and New Infections. 23: 103–109. doi:10.1016/j.nmni.2018.01.004. PMC 5913367. PMID 29692913.
49. ^ Cafiero MA, Camarda A, Circella E, Santagada G, Schino G, Lomuto M (November 2008). "Pseudoscabies caused by Dermanyssus gallinae in Italian city dwellers: a new setting for an old dermatitis". Journal of the European Academy of Dermatology and Venereology. 22 (11): 1382–3. doi:10.1111/j.1468-3083.2008.02645.x. PMID 18384564.
* v
* t
* e
Mite-borne diseases and infestations
Infestations
* Acariasis
* Baker's itch
* Cheyletiellosis
* Demodicosis
* Feather pillow dermatitis
* Gamasoidosis
* Grain itch
* Grocer's itch
* Rodent mite dermatitis
* Scabies
* Trombiculosis
Other diseases
* House dust mite allergy
* Oral mite anaphylaxis
* List of mites associated with cutaneous reactions
Species and bites
Trombidiformes
* Demodex brevis / Demodex folliculorum
* demodicosis
* Demodex mite bite
* Trombicula
* trombiculosis
* Pyemotes herfsi
* Cheyletiella (cheyletiellosis)
* Leptotrombidium deliense
Sarcoptiformes
* Sarcoptes scabiei
* scabies
Mesostigmata
* Dermanyssus gallinae
* gamasoidosis
* Liponyssoides sanguineus
* rickettsialpox
Other
* House dust mite
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Gamasoidosis
|
c0277419
| 8,638 |
wikipedia
|
https://en.wikipedia.org/wiki/Gamasoidosis
| 2021-01-18T18:52:40 |
{"umls": ["C0277419"], "wikidata": ["Q4132950"]}
|
A number sign (#) is used with this entry because of evidence that Paget disease of bone-5 (PDB5), also known as juvenile Paget disease, results from osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene (602643) on chromosome 8q24.
Description
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).
For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Clinical Features
Bakwin and Eiger (1956) and Bakwin et al. (1964) described a familial disorder manifesting itself from early in life by large head and expanded and bowed extremities. Alkaline phosphatase was elevated. The long bones are greatly expanded with osteoporosis and coarse trabeculations. The calvaria is markedly thickened with islands of increased bone density. Muscular weakness may be striking. In Bakwin's family, 2 sisters, of Puerto Rican parentage, were severely affected. Both had retinal degeneration. In one, the changes included angioid streaks. The parents were first cousins and the mother was mildly affected. The findings in her would probably have escaped detection if x-rays had not been made. The authors thought this to be the same as the condition described in 2 sisters by Swoboda (1958) as hyperostosis corticalis deformans juvenilis and by Choremis et al. (1958) as Paget disease in an 11-year-old boy. Caffey (1961) and Rubin (1964) presented cases.
Fanconi et al. (1964) described the x-ray and histologic changes in a young Brazilian male and suggested the designation osteochalasia desmalis familiaris. The condition called familial osteoectasia by Stemmermann (1966) appears to be the same. His cases were in brother and sister, aged 2 and 3, of Puerto Rican ancestry.
Brother and sister of mixed Hawaiian, Filipino, and Puerto Rican ancestry were described by Eyring and Eisenberg (1968). Fragile bones, premature loss of teeth, and dwarfism were features. Increased bone formation and destruction were thought to be present. Both acid and alkaline phosphatases and leucine aminopeptidase were elevated. Increased hydroxyproline in blood and urine and hyperuricemia were also demonstrated. Thompson et al. (1969) and Smith (1976) reported further on the brother and sister described by Eyring and Eisenberg (1968). Singer et al. (1994) provided a 20-year follow-up of the same family. Of 8 sibs, 3 were affected. One brother, at the age of 36, had roentgenographic signs only. The second affected brother suffered from recurrent renal colic from calcium-containing stones. The affected sister had died at the age of 30 from pneumonia and respiratory failure.
Caffey (1973) reviewed the findings in 14 patients distributed in 10 families.
Golob et al. (1996) investigated extensively a mentally retarded 21-year-old woman with unusually mild juvenile Paget disease. Progressive bowing deformity of her lower limbs began at age 1.5 years. Nontraumatic fractures of both femurs and both tibias occurred between ages 9 and 14 years. During adulthood, cortical thickening, osteosclerosis, and bowing affected these bones. Serum alkaline phosphatase activity was persistently elevated. They found that her serum osteocalcin (112260) and urinary hydroxyproline and pyridinoline:deoxypyridinoline activities were also increased. The skeletal histopathology was considered to be quite different from that of classic Paget bone disease. Electron microscopy revealed no cytoplasmic or nuclear inclusions. Whyte et al. (1996) found that the patient's circulating monocytes were free of viral transcripts that have been associated with classic Paget bone disease.
Naot et al. (2014) reported 2 unrelated patients with PDB5. A 3.5-year-old boy, born of consanguineous Turkish parents, had a severe phenotype, with delayed development, short stature, brachycephaly, bowing of the limbs, and severe sensorineural hearing loss with inability to speak. Laboratory studies showed increased alkaline phosphatase. Pamidronate treatment resulted in decreased pain. The second patient was less severely affected. He presented with frequent fractures in infancy and delayed motor development. At age 19, he needed a wheelchair to walk long distances, had barrel chest, long bone deformities, kyphosis, short stature, and hearing loss. Radiographs showed skull expansion of the diploic space with mottled mineralization, ankylosis of the vertebral bodies and sacroiliac joints, shortening of the humeri with thickened cortices, and areas of sclerosis and demineralization in the temporal bones. He also had angioid streaks and macular scarring in the retina. Laboratory studies showed increased alkaline phosphatase and low vitamin D.
Clinical Management
Singer et al. (1994) reported benefit from disodium etidronate in the treatment of this disorder.
Spindler et al. (1992) described the case of a 38-year-old woman with 24 years of progressive skeletal deformity resulting from this disorder. Treatment with a bisphosphonate caused a drop in serum alkaline phosphatase with relief of bone pain and return of skin temperature to normal.
Cundy et al. (2005) reported the use of recombinant osteoprotegerin in the treatment of juvenile Paget disease in a 31-year-old woman and her 24-year-old brother, originally described by Cundy et al. (2002). In both patients, bone deformity began to develop at around 5 years of age, and by the age of 15 years both were wheelchair-bound. Both had severe kyphosis as a result of widespread vertebral deformity as well as severe acetabular protrusion, short stature, macrocephaly, and deafness. Bone resorption (assessed by N-telopeptide excretion) was suppressed by once-weekly subcutaneous doses of 0.3 to 0.4 mg per kilogram of body weight. After 15 months of treatment, radial bone mass increased in one patient by 9% and in the other by 30%, skeletal bisphosphonate retention decreased by 37% and 55%, respectively, and there was radiographic improvement. Apart from mild hypocalcemia and hypophosphatemia, no apparent adverse effects occurred.
Inheritance
The transmission pattern of PDB5 in the families reported by Naot et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 patients with juvenile Paget disease, Whyte et al. (2002) identified a causative homozygous deletion in the TNFRSF11B gene (602643.0001).
In a consanguineous family of Iraqi origin, Cundy et al. (2002) found that all 3 sibs affected with idiopathic hyperphosphatasia were homozygous for a 3-bp in-frame deletion in exon 3 of the TNFRSF11B gene, resulting in the loss of an aspartate residue (602643.0002). Recombinant wildtype and mutant osteoprotegerin (OPG) cDNAs were expressed in human epithelial kidney cells, and secreted OPG was collected from the conditioned medium. In vitro measurements of bone resorption showed that wildtype OPG suppressed bone resorption, whereas the mutant form did not, confirming this to be an inactivating mutation.
Chong et al. (2003) studied 8 patients with juvenile Paget disease and identified homozygosity for mutations in the TNFRSF11B gene in 5 of them. Missense mutations in the cysteine residues (see, e.g., 602643.0003), predicted to cause major disruption to the ligand-binding region, were associated with a severe phenotype in which deformity developed before 18 months of age and caused major disability. Noncysteine missense mutations in the ligand-binding domain (see, e.g., 602643.0004) were associated with an intermediate phenotype, with deformity recognized around the age of 5 years and an increased rate of long bone fracture. An insertion/deletion mutation in exon 5 (602643.0005) was associated with the mildest phenotype. Chong et al. (2003) concluded that mutations in TNFRSF11B account for the majority of, but not all, cases of juvenile Paget disease, and that there are distinct genotype-phenotype relationships.
In 2 unrelated patients with PDB5, Naot et al. (2014) identified 2 different homozygous mutations in the TNFRSF11B gene (602643.0006 and 602643.0007). One patient with a more severe phenotype had a large intragenic deletion resulting in a severely truncated protein predicted to be nonfunctional.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Ears \- Hearing loss, sensorineural Eyes \- Angioid streaks (in some patients) \- Retinopathy (in some patients) \- Macular scarring (in some patients) CHEST External Features \- Barrel chest SKELETAL \- Paget disease of bone \- Osteoporosis \- Demineralization \- Osteosclerosis \- Increased fractures Skull \- Thickening of the skull \- Skull expansion Spine \- Kyphosis \- Ankylosis Limbs \- Bowing of the long bones \- Deformities of the long bones NEUROLOGIC Central Nervous System \- Delayed motor development (in some patients) LABORATORY ABNORMALITIES \- Increased serum alkaline phosphatase MISCELLANEOUS \- Onset in first decade \- Progressive disorder \- Variable severity MOLECULAR BASIS \- Caused by mutation in the tumor necrosis factor receptor superfamily, member 11B gene (TNFRSF11B, 602643.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
PAGET DISEASE OF BONE 5, JUVENILE-ONSET
|
c0268414
| 8,639 |
omim
|
https://www.omim.org/entry/239000
| 2019-09-22T16:26:49 |
{"mesh": ["C537701"], "omim": ["239000"], "orphanet": ["2801"], "synonyms": ["Alternative titles", "JUVENILE PAGET DISEASE", "HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS", "HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC", "HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC", "OSTEOECTASIA, FAMILIAL"]}
|
Aquagenic pruritus
SpecialtyDermatology
Aquagenic pruritus is a skin condition characterized by the development of severe, intense, prickling-like epidermal itching without observable skin lesions and evoked by contact with water. [1][2]
## Contents
* 1 Presentation
* 2 Pathogenesis
* 3 Diagnosis
* 4 Treatment
* 5 Etymology
* 6 See also
* 7 References
* 8 External links
## Presentation[edit]
Presentation varies from person to person. Some people have discrete attacks, which can last between 10 and 120 minutes[3] while others are symptomatic almost constantly due to atmospheric humidity levels and/or sweating. Itching most frequently occurs on the legs, arms, chest, back, and abdomen, though it can also occur elsewhere.[4]
Itching on contact with water that also includes hives is known as Aquagenic Urticaria.
## Pathogenesis[edit]
The exact mechanism of the condition is unknown. Some studies have suggested the itching occurs in response to increased fibrinolytic activity in the skin,[5][6] inappropriate activation of the sympathetic nervous system,[7] increased activity of Acetylcholinesterase,[8][9] or an increase in mast cell degranulation that releases histamine and other chemicals into the body.[10]
## Diagnosis[edit]
No definitive medical test is known for aquagenic pruritus. Rather, diagnosis is made by excluding all other possible causes of the patient's itching, including polycythemia vera. Since pruritus is a symptom of many serious diseases, it is important to rule out other causes before making a final diagnosis.[11]
## Treatment[edit]
Beta-Alanine, a nonessential amino acid and freely available as a nutritional supplement in many countries, has been found to suppress or significantly reduce the symptoms in many cases.[12] Anecdotal evidence indicates that it is commonly consumed in doses of 750 mg to 2 grams before water contact.[13] A study found that a dose of 2 grams twice per day led to a "dramatic and sustained improvement" of symptoms in a 13-year-old male patient, allowing him to comfortably shower, exercise, and swim.[14]
Other treatment is usually focused on topical itch management. This can be effected by the application of hot water at the end of a bath or shower, antipruritic lotions or creams such as lotion containing capsaicin, using phototherapy, or the application of hot or cold packs to the skin after water contact.[15] Paradoxically, hot baths or showers help many patients, possibly because heat causes mast cells in the skin to release their supply of histamine and to remain depleted for up to 24 hours afterward.[16][17]
H1 and H2 blockers, such as loratadine, doxepin, or cimetidine, have historically been the first line of pharmacological treatment, but not all sufferers find relief with these medications. When antihistamines do work, loratadine seems to be the most effective for mild cases and doxepin most effective for more severe cases.
Naltrexone, hydrocortisone, or propranolol may relieve itching for some people.[18][7]
Sertraline or other Selective serotonin reuptake inhibitors (SSRIs) is also a line of treatment.
## Etymology[edit]
The name is derived from Latin: aquagenic, meaning water-induced, and pruritus, meaning itch.
## See also[edit]
* Aquadynia
* Aquagenic urticaria
* List of cutaneous conditions
* List of allergies
## References[edit]
Notes
1. ^ Freedberg, Irwin M.; Eisen, Arthur Z.; Wolff, Klaus; Austen, K. Frank; Goldsmith, Lowell A.; Katz, Stephen I., eds. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 401. ISBN 978-0-07-138066-9.
2. ^ James, William Daniel; Berger, Timothy G.; Elston, Dirk M. (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 56. ISBN 978-0-7216-2921-6.
3. ^ Steinman, Howard K.; Greaves, Malcolm W. (1985). "Aquagenic pruritus". Journal of the American Academy of Dermatology. 13 (1): 91–6. doi:10.1016/S0190-9622(85)70149-1. PMID 2411768.
4. ^ "Aquagenic pruritus". U.S. Department of Health and Human Services.
5. ^ Sekar, Cshanmuga; Jacob, Sheja; Srinivas, CR (2011). "Aquagenic pruritus: Beneath water 'lies'". Indian Journal of Dermatology. 56 (4): 446–7. doi:10.4103/0019-5154.84734. PMC 3179019. PMID 21965864.
6. ^ Lotti, T.; Steinman, H. K.; Greaves, M. W.; Fabbri, P.; Brunetti, L.; Panconesi, E. (1986). "Increased Cutaneous Fibrinolytic Activity in Aquagenic Pruritus". International Journal of Dermatology. 25 (8): 508–10. doi:10.1111/j.1365-4362.1986.tb00863.x. PMID 3771051.
7. ^ a b Nosbaum, Audrey; Pecquet, Catherine; Bayrou, Olivier; Amsler, Emmanuelle; Nicolas, Jean F.; Bérard, Frédéric; Francès, Camille (2011). "Treatment with propranolol of 6 patients with idiopathic aquagenic pruritus". The Journal of Allergy and Clinical Immunology. 128 (5): 1113. doi:10.1016/j.jaci.2011.05.001. PMID 21616525.
8. ^ Bircher, Andreas J.; Meier-Ruge, William (1988). "Aquagenic Pruritus: Water-Induced Activation of Acetylcholinesterase". Arch. Dermatol. 124 (1): 84–89. doi:10.1001/archderm.1988.01670010048020.
9. ^ Kligman, Albert M.; Greaves, Malcolm W.; Steinman, Howard (1986). "Water-Induced Itching Without Cutaneous Signs: Aquagenic Pruritus". Arch. Dermatol. 122 (2): 183–186. doi:10.1001/archderm.1986.01660140073021.
10. ^ "Aquagenic pruritus | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-12-03.
11. ^ Butler, David F (Aug 17, 2018). James, William D (ed.). "Pruritus and Systemic Disease". Medscape.
12. ^ https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.14440
13. ^ https://www.facebook.com/groups/230640150306723/
14. ^ https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.14440
15. ^ Holme, S. A.; Anstey, A. V. (2001). "Aquagenic pruritus responding to intermittent photochemotherapy". Clinical and Experimental Dermatology. 26 (1): 40–1. doi:10.1046/j.1365-2230.2001.00757.x. PMID 11260176.
16. ^ People's Pharmacy (2012-06-18). "Hot Water for Itches". Retrieved 25 July 2012.
17. ^ Sulzberger, Marion B (1961). Dermatology: Diagnosis and Treatment (2nd ed.). Chicago: Year Book Publishers. p. 94. ISBN 978-0801648083. Retrieved 11 September 2018.
18. ^ Ingber, Sarah; Cohen, Paul D. (2006). "Successful Treatment of Refractory Aquagenic Pruritus with Naltrexone". Journal of Cutaneous Medicine and Surgery. 9 (5): 215–6. doi:10.1007/s10227-005-0144-x. PMID 16502200.
Further reading
* Steinman, Howard K.; Greaves, Malcolm W. (1985). "Aquagenic pruritus". Journal of the American Academy of Dermatology. 13 (1): 91–6. doi:10.1016/S0190-9622(85)70149-1. PMID 2411768.
* Office of Rare Diseases Research. "Aquagenic pruritus". National Institute of Health. Retrieved 18 April 2012.
* Salami, TA; Samuel, SO; Eze, KC; Irekpita, E; Oziegbe, E; Momoh, MO (2009). "Prevalence and characteristics of aquagenic pruritus in a young African population". BMC Dermatology. 9: 4. doi:10.1186/1471-5945-9-4. PMC 2673209. PMID 19374742.
* Santoso, Ivan; Santoso-Pham, Julia C. (September 1999). "Aquagenic Pruritus: Two Cases That Resolved with Histamine1 and Histamine2 Antagonists" (PDF). Hospital Physician: 67–8.
* "Aquagenic Pruritus". Family Practice Notebook. Archived from the original on 8 May 2013. Retrieved 14 June 2020.
* Boodman, Sandra G. (May 16, 2011). "Common symptom, uncommon cause". Washington Post. Retrieved 3 Jul 2012.
* Sekine, R.; et al. (Mar 2012). "Anti pruritic effects of topical crotamiton, capsaicin, and a corticosteroid on pruritogen-induced scratching behavior". 21 (3): 201–4. Cite journal requires `|journal=` (help)
## External links[edit]
Classification
D
* ICD-10: L29.8 (ILDS L29.83)
* v
* t
* e
Dermatitis and eczema
Atopic dermatitis
* Besnier's prurigo
Seborrheic dermatitis
* Pityriasis simplex capillitii
* Cradle cap
Contact dermatitis
(allergic, irritant)
* plants: Urushiol-induced contact dermatitis
* African blackwood dermatitis
* Tulip fingers
* other: Abietic acid dermatitis
* Diaper rash
* Airbag dermatitis
* Baboon syndrome
* Contact stomatitis
* Protein contact dermatitis
Eczema
* Autoimmune estrogen dermatitis
* Autoimmune progesterone dermatitis
* Breast eczema
* Ear eczema
* Eyelid dermatitis
* Topical steroid addiction
* Hand eczema
* Chronic vesiculobullous hand eczema
* Hyperkeratotic hand dermatitis
* Autosensitization dermatitis/Id reaction
* Candidid
* Dermatophytid
* Molluscum dermatitis
* Circumostomy eczema
* Dyshidrosis
* Juvenile plantar dermatosis
* Nummular eczema
* Nutritional deficiency eczema
* Sulzberger–Garbe syndrome
* Xerotic eczema
Pruritus/Itch/
Prurigo
* Lichen simplex chronicus/Prurigo nodularis
* by location: Pruritus ani
* Pruritus scroti
* Pruritus vulvae
* Scalp pruritus
* Drug-induced pruritus
* Hydroxyethyl starch-induced pruritus
* Senile pruritus
* Aquagenic pruritus
* Aquadynia
* Adult blaschkitis
* due to liver disease
* Biliary pruritus
* Cholestatic pruritus
* Prion pruritus
* Prurigo pigmentosa
* Prurigo simplex
* Puncta pruritica
* Uremic pruritus
Other
* substances taken internally: Bromoderma
* Fixed drug reaction
* Nummular dermatitis
* Pityriasis alba
* Papuloerythroderma of Ofuji
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Aquagenic pruritus
|
c0406409
| 8,640 |
wikipedia
|
https://en.wikipedia.org/wiki/Aquagenic_pruritus
| 2021-01-18T18:51:29 |
{"gard": ["10278"], "umls": ["C0406409"], "icd-10": ["L29.8"], "wikidata": ["Q623023"]}
|
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
CCDC115-CDG
|
c4225191
| 8,641 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=468684
| 2021-01-23T18:52:54 |
{"omim": ["616828"], "synonyms": ["CDG syndrome type IIo", "CDG-IIo", "CDG2O", "Carbohydrate deficient glycoprotein syndrome type IIo", "Congenital disorder of glycosylation type 2o", "Congenital disorder of glycosylation type IIo"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to osteoarthritis-3 (OS3) is conferred by variation in the ASPN gene (608135) on chromosome 9q22.
For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).
Molecular Genetics
Kizawa et al. (2005) found a significant association between osteoarthritis of the knee and hip and a polymorphism in the aspartic acid repeat in the N-terminal region of the ASPN protein (608135.0001). The aspartic acid repeat polymorphism inhibits chondrogenesis and increases susceptibility to osteoarthritis. Asporin is an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis.
Jiang et al. (2006) genotyped the aspartic acid repeat in the ASPN gene in 218 Han Chinese with radiographically confirmed symptomatic knee osteoarthritis and 454 age-matched controls and found that the D14 allele was significantly overrepresented in knee osteoarthritis patients (p = 0.0063 after Bonferroni correction; odds ratio, 2.04). D14 was more frequent in early-onset patients, and the age at onset in patients with D14 was earlier.
INHERITANCE \- Autosomal dominant SKELETAL Hands \- Joint pain \- Joint stiffness \- Osteoarthritis of the distal interphalangeal joint (DIP) \- Osteophytes of the DIP (Heberden nodes) \- Osteoarthritis of the first carpometacarpal joint (CMC1) \- Decreased volume of articular cartilage \- Disorganization of articular cartilage MISCELLANEOUS \- Presumed autosomal dominant with incomplete penetrance MOLECULAR BASIS \- Susceptibility conferred by mutations in the matrilin-3 gene (MATN3, 602109.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
OSTEOARTHRITIS SUSCEPTIBILITY 3
|
c2675609
| 8,642 |
omim
|
https://www.omim.org/entry/607850
| 2019-09-22T16:08:39 |
{"omim": ["607850"], "synonyms": ["Alternative titles", "OSTEOARTHRITIS OF KNEE/HIP"]}
|
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.
The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part of the eye (iris), and the clear covering of the eye (cornea). An eye problem called Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves abnormal development of the anterior segment, which results in a cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may also be associated with clouding of the lenses of the eyes (cataracts) or other lens abnormalities. Peters anomaly is usually bilateral, which means that it affects both eyes. The severity of corneal clouding and other eye problems can vary between individuals with Peters plus syndrome, even among members of the same family. Many people with Peters plus syndrome experience vision loss that worsens over time.
All people with Peters plus syndrome have short stature, which is evident before birth. The height of adult males with this condition ranges from 141 centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the height of adult females ranges from 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).
The characteristic facial features of Peters plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose and mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). The neck may also be broad and webbed. A cleft lip with or without a cleft palate is present in about half of the people with this condition.
Developmental milestones, such as walking and speech, are delayed in most children with Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although some have normal intelligence. The severity of physical features does not predict the level of intellectual disability.
Less common signs and symptoms of Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities.
## Frequency
Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide.
## Causes
Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. Most mutations in the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the B3Glc-T enzyme, which disrupts glycosylation. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.
### Learn more about the gene associated with Peters plus syndrome
* B3GLCT
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Peters plus syndrome
|
c0796012
| 8,643 |
medlineplus
|
https://medlineplus.gov/genetics/condition/peters-plus-syndrome/
| 2021-01-27T08:25:06 |
{"gard": ["8422"], "mesh": ["C537617"], "omim": ["261540"], "synonyms": []}
|
## Summary
### Clinical characteristics.
Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.
### Diagnosis/testing.
The diagnosis of HFS is established in a proband with characteristic clinical features and/or biallelic pathogenic variants in ANTXR2 identified by molecular genetic testing. Skin biopsy may reveal hyaline material accumulation in the dermis or nondiagnostic findings; intestinal biopsy may demonstrate villous atrophy and lymphangiectasia. Skeletal x-rays may reveal osteopenia, periosteal reaction, and lucent lesions.
### Management.
Treatment of manifestations: Possible nasogastric tube, gastrostomy tube feeding, or parenteral nutrition under supervision of a gastroenterologist and nutritionist; nutrition tailored for the possibility of malabsorption or lymphangiectasia; hydration and albumin infusions for protein-losing enteropathy; physiotherapy for joint contractures can be considered although pain may be problematic; nonsteroidal anti-inflammatory drugs, opiates, and possibly gabapentin for pain; gentle handling; splinting may reduce pain; consultation with a pain management specialist as needed; lesions that obstruct the airway or interfere with feedings can be excised, but may recur; anesthesiologists need to be aware of potential difficulties with endotracheal intubation; perianal masses may be resected; treatment of skin nodules as recommended by dermatology and/or plastic surgery; infections are treated based on the site of infection and causative agent; consider family counseling to manage chronic medical condition.
Surveillance: The following as needed based on clinical presentation: antibody levels and serum albumin; evaluation for gastrointestinal malabsorption; nutrition assessment; history and examination for contracture progression and pain; examination for concerning lesions; examination for oral lesions that affect feeding/nutrition and dental complications; cardiac assessment.
### Genetic counseling.
HFS is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an ANTXR2 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being unaffected and a carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible once the ANTXR2 pathogenic variants have been identified in an affected family member.
## Diagnosis
### Suggestive Findings
Hyaline fibromatosis syndrome (HFS) should be suspected in individuals with the following clinical, laboratory, histopathology, and radiographic features. Clinical features are presented in order of their specificity for clinical diagnosis.
Clinical features
* Hyperpigmented skin over bony prominences. Purplish patches develop over the medial and lateral malleoli of the ankles, metacarpophalangeal joints, spine, and elbows.
* Progressive contractures (e.g., hip, knee and elbow flexion, ankle dorsiflexion, wrist extension with flexion of proximal interphalangeal and distal interphalangeal joints) that may be congenital and/or cause decreased intrauterine movement. Some individuals have only mild contractures.
* Possible pain or excessive crying with passive movement
* Failure to thrive. Postnatal-onset growth deficiency is common. Some children develop chronic diarrhea and protein-losing enteropathy.
* Gingival thickening
* Skin nodules (e.g., pearly papules on the head and neck; skin nodules, papules, and fleshy lesions periorally and perianally)
* Characteristic facies. A depressed nasal bridge, variable ear malformations (large, simple or low-set ears, and preauricular skin tags), and a slightly coarse facial appearance may be present.
* Normal ophthalmologic examination can be used to differentiate HFS from some lysosomal storage disorders.
Laboratory features
* Serum albumin may be low.
* Normal or slightly elevated ESR, anemia, and/or thrombocytosis
* Immunoglobulin levels may be low and cellular immune responses depressed.
* CD3 and CD4 lymphocyte subsets and ANA are unremarkable.
Histopathology
* Skin biopsy. Light microscopy demonstrates hyaline material in the dermis.
Note: This finding may not be evident in the early stages of the disease [Arbour et al 2001]. The hyaline material appears as an amorphous eosinophilic substance that is periodic acid-Schiff (PAS) positive. It is thought to contain glycoproteins and collagen. The spindle-shaped fibroblasts dispersed in abundant amounts of hyaline material render a "chondroid appearance."
Electron microscopy demonstrates cells filled with fine, fibrillary material with an enlarged endoplasmic reticulum and Golgi apparatus.
* Intestinal biopsy. Villous atrophy, edema, lymphangiectasia, and hyalinosis may be seen in individuals with prominent gastrointestinal symptoms.
Radiographic features
* Skeletal radiographs. Generalized osteopenia, periosteal reaction, and lucent lesions are nonspecific findings that may affect long bones as well as the axial skeleton.
* Upper-gastrointestinal imaging studies may show rapid transit time.
* MRI of the brain is unremarkable.
### Establishing the Diagnosis
The diagnosis of HFS is established in a proband with the above suggestive findings and/or biallelic pathogenic variants in ANTXR2 identified by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in Suggestive Findings may be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of HFS has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
Single-gene testing. Sequence analysis of ANTXR2 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.
A multigene panel that includes ANTXR2 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of HFS is not immediately recognized, comprehensive genomic testing (which does not require the clinician to determine which gene is likely involved) is the most likely option. Exome sequencing is most commonly used; genome sequencing is also possible.
If exome sequencing is not diagnostic, 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 Hyaline Fibromatosis Syndrome
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
ANTXR2Sequence analysis 395% 4
Gene-targeted deletion/duplication analysis 5~5% 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Dowling et al [2003], Hanks et al [2003], El-Kamah et al [2010], Denadai et al [2012], Casas-Alba et al [2018], Cozma et al [2019]
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\.
Shieh et al [2006], Denadai et al [2012]
## Clinical Characteristics
### Clinical Description
Hyaline fibromatosis syndrome (HFS), named for the characteristic hyaline deposits in the papillary dermis and other tissues including the gastrointestinal tract of affected individuals, exhibits a broad spectrum of clinical severity [Casas-Alba et al 2018, Cozma et al 2019]. Individuals may present at birth or in infancy with severe pain with movement, progressive joint contractures, skin that is firm to palpation, and characteristic hyperpigmented macules/patches over bony prominences of the joints, especially the ankles, wrists, and metacarpal-phalangeal joints [Shieh et al 2006, El-Kamah & Mostafa 2009, Hammoudah & El-Attar 2016, Schussler et al 2018]. Severely affected children can die in the first years of life, possibly from gastrointestinal involvement. Some individuals demonstrate a milder phenotype, which may be of later onset. Adults with significant symptoms have also been reported.
To date, at least 93 individuals have been identified with a pathogenic variant in ANTXR2 [Cozma et al 2019, Härter et al 2020]. The following description of the phenotypic features associated with this condition is based on these reports.
### Table 2.
Features of Hyaline Fibromatosis Syndrome
View in own window
Feature% of Persons w/FeatureComment 1
Skin nodules>80%Can be diagnostic
Hyperpigmented skin over bony prominences, thickened skinCommonCan be diagnostic
Contractures~60%Variable depending on severity
Gingival enlargement93%
Protein-losing enteropathyUnknownDiarrhea, reported in >50%, is likely more common than reported
Immunodeficiency~33%Variable; may be underreported
1\.
Presence of findings may be age dependent.
Skin nodules and other manifestations. Skin nodules and white-to-pink pearly papules that are a few millimeters in size are common on the face and neck. Fleshy lesions may appear in the perianal region. These lesions appear to develop and become more numerous over time. The skin is firm to palpation and has been described as thickened. Excessive diaphoresis is common.
Hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine, and elbows. The degree of hyperpigmentation varies depending on the baseline pigmentation of the skin [Arbour et al 2001].
Progressive contractures. Affected individuals can present with congenital contractures. Some mothers report deficient fetal activity during the pregnancy of the affected infant, and many parents note decreased passive and/or active movement of the extremities of their child. Contractures are progressive, and extremities become fixed with the hips and knees flexed and the ankles dorsiflexed. The elbows exhibit flexion contractures, and the wrists are typically positioned in extension with flexion contractures of the proximal interphalangeal and distal interphalangeal joints. Some individuals demonstrate milder features [Shieh et al 2006].
Pain or excessive crying. Severe pain with passive movement in infancy or early childhood is characteristic. Pathogenesis is unclear.
Failure to thrive. Postnatal-onset growth deficiency is common. Villous atrophy, edema, and lymphangiectasia of the intestine can lead to malabsorption. Some children develop severe intractable protein-losing diarrhea, likely due to hyalinosis of the intestine. The clinical progression of severe cases has been delayed with regular gastrointestinal evaluation and nutritional support [Shieh, unpublished].
Gingival manifestations. The gingivae are thickened. Affected individuals develop masses in the gingiva, which enlarge over time. Lesions that obstruct the airway or interfere with oral intake are particularly problematic. Lesions may recur after surgical excision.
Dental abnormalities include malpositioned teeth, curved dental roots, or other dental abnormalities.
Characteristic facies. A depressed nasal bridge, variable ear malformations (large, simple, or low-set ears; preauricular skin tags), and a slightly coarse facial appearance may be present.
Other
* Cognitive function is preserved; however, individuals with delayed development have been reported [Nischal et al 2004].
* Hepatomegaly may be present.
* Susceptibility to fractures may be increased.
* Recurrent infections may develop due to impaired cellular immune responses and reduced immunoglobulin levels [Klebanova & Schwindt 2009].
* At least two clinically diagnosed individuals developed squamous cell carcinoma [Kawasaki et al 2001, Shimizu et al 2005] and an adult has been reported with colon cancer. The ANTXR2 mutation status in these individuals is unknown.
* Cardiovascular involvement is largely unknown. One instance of atrial thrombus has been reported.
Prognosis
* Individuals with severe disease can succumb to infection or complications of protein-losing enteropathy.
* Some individuals demonstrate a milder phenotype, which may be of later onset with potential survival into adulthood.
* A clinical grading system for HFS has been proposed [Denadai et al 2012] with grades from mild to severe/lethal. All grades have skin and/or gingival involvement, while increasing grades have joint and/or bone and internal organ involvement. Sepsis or organ failure is associated with the most severe forms.
Milder phenotype. Although joint contractures, skin hyperpigmentation, and skin lesions occur with the milder phenotype, the presentation is variable and disability may be less pronounced. Pain is less severe and may decrease with age. Short stature, limb shortening, and brachydactyly may be present. Intractable diarrhea is rare in milder forms of the disorder.
Pathology. Myopathic changes on muscle biopsy may be evident [Zolkipli et al 2003]. Only a few postmortem examinations have been reported. Hyaline deposition has been documented in the dermis, the small and large intestine, skeletal muscle, lymph nodes, thymus, spleen, thyroid, adrenals, and myocardium. Interstitial parenchymal fibrosis of the pancreas, skeletal muscle, lung, and liver was observed [Criado et al 2004].
### Genotype-Phenotype Correlations
Hanks et al [2003] reported on genotype/phenotype correlations in 17 families:
* Those with at least one insertion/deletion in ANTXR2 resulting in a translational frameshift had a severe phenotype (infantile systemic hyalinosis).
* In-frame and missense variants in the cytoplasmic domain were associated with a milder phenotype, with survival to adulthood without recurrent infections, diarrhea, or multiorgan failure. Skeletal manifestations, however, were variably present.
A review of ANTXR2 variant type and disease grade was published by Casas-Alba et al [2018]; missense variants in the cytoplasmic domain were found to be less severe.
### Nomenclature
Before the molecular basis of HFS was understood, severe and milder forms of the disorder were described as separate conditions (infantile systemic hyalinosis and juvenile hyaline fibromatosis, respectively). It is now known that both severe and mild forms of HFS are caused by pathogenic variants in ANTXR2.
### Prevalence
HFS is rare, but it has been recognized in families of various ethnic backgrounds on multiple continents.
## Differential Diagnosis
The conditions summarized in Table 3 exhibit some features similar to hyaline fibromatosis syndrome (HFS); however, HFS can be distinguished by the characteristic associated pain, hyperpigmented skin lesions, and perianal and perioral masses.
### Table 3.
Other Genes and Conditions of Interest in the Differential Diagnosis of Hyaline Fibromatosis Syndrome
View in own window
Gene(s)DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/HFSDifferentiating from HFS
ASAH1Farber disease (See ASAH1 Disorders.)ARTypically presents w/painful joint contractures & progressive hoarseness; skin nodules develop, esp over bony prominences.Neurologic involvement in most persons; absence of hyperpigmented patches
COL1A1Caffey disease (infantile cortical hyperostosis)ADPresents w/irritability, poor feeding, fever, & soft tissue swellingCharacteristic radiographic hyperostoses
ECM1Lipoid proteinosisARPresents w/hoarseness, followed by development of papules around eyelidsFacial papules, tongue enlargement, dental hypoplasia, & distinct skin lesions (vesicles & crusted bullae evolving into waxy plaques)
FBN1Stiff skin syndrome (OMIM 184900)ADThickened skin & flexion contractures; mucopolysaccharide deposition has been found in the skin but mucopolysacchariduria has not been detected.Absence of characteristic HFS skin findings
GNPTABMucolipidosis II (See GNPTAB Disorders.)ARGingival thickening & dysostosis multiplex; facies are coarse & joint contractures develop over time.
Mucolipidosis IIIα/β (See GNPTAB Disorders.)ARPhenotype varies in severity; principal features: contractures & dysostosis multiplex.
MMP2Multicentric osteolysis nodulosis & arthropathy 1ARShort stature & osteolysis of interphalangeal & metacarpal-phalangeal joints
PDGFRBCongenital generalized fibromatosis (OMIM 228550)ADSolitary, multiple, or generalized nodules composed of cells w/features of differentiated fibroblasts & smooth muscle cells
AD = autosomal dominant; AR = autosomal recessive; HFS = hyaline fibromatosis syndrome; MOI = mode of inheritance
1\.
In addition to multicentric osteolysis nodulosis and arthropathy (MONA), this phenotype has been reported in the literature as Torg syndrome, Winchester-Torg (or Torg-Winchester) syndrome, and nodulosis-arthropathy-osteolysis (NAO) syndrome. All of these conditions have been shown to be caused by biallelic pathogenic variants in MMP2 with no discernible genotype-phenotype correlation.
Note: Periosteal reaction or fractures on skeletal radiographs in systemic hyalinosis have been mistaken for non-accidental trauma. The hyperpigmented skin lesions may mistakenly be considered post-traumatic, and the perianal masses can resemble condylomata, prompting a workup for an infectious etiology.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with hyaline fibromatosis syndrome (HFS), the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) should be considered.
### Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with Hyaline Fibromatosis Syndrome
View in own window
System/ConcernEvaluationComment
GI/NutritionComplete GI & nutritional evalIncl eval for intestinal malabsorption & protein-losing enteropathy
MusculoskeletalConsider pain management eval, orthopedic eval.For contractures
ImmunologicConsider immunology eval.To evaluate for immune deficiency both cellular & humoral; protein-losing enteropathy
CardiacConsider echocardiogram.To evaluate cardiac function
EndocrineConsider endocrine eval.Possible osteopenia, recurrent fractures
DentalConsider dental eval.For gingival hypertrophy & dental abnormalities
Genetic
counselingBy genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of HFS in order to facilitate medical & personal decision-making
GI = gastrointestinal; HFS = hyaline fibromatosis syndrome; MOI= mode of inheritance
1\.
Medical geneticist, certified genetic counselor, certified advanced genetic nurse
### Treatment of Manifestations
### Table 5.
Treatment of Manifestations in Individuals with Hyaline Fibromatosis Syndrome
View in own window
Manifestation/
ConcernTreatmentConsiderations/Other
Failure to thriv
* Early consideration of nasogastric tube or gastrostomy tube feeding or parenteral nutrition
* Nutrition should be tailored for possibility of malabsorption or lymphangiectasia.
A nutritionist should follow affected persons.
Protein-losing enteropathyDiarrhea & protein-losing enteropathy w/subsequent edema should be treated w/hydration & albumin infusions.An effective long-term treatment is lacking; the effectiveness of dietary therapies w/intestinal lymphangiectasia is not known.
Joint contracturesPT assessmentWhen passive movement of joint contractures is painful, PT should be carried out w/care; in some cases PT is not tolerated because of pain.
PainNonsteroidal anti-inflammatory drugs & opiatesAgents such as gabapentin should also be considered.
* Gentle handling may ↓ pain that is worsened w/movement.
* Splinting of affected joints may provide comfort.
* Consultation w/a pain mgmt specialist may be helpful.
* Palliative care consultation may be an option in severe cases.
Skin nodules, gingival thickening, & lesions of the mouth
* Surgical excision is an option.
* Anesthesiologists should be aware of difficulty of endotracheal intubation & mgmt in some affected persons [Pollard et al 2008, Qasem et al 2012].
* Lesions may recur after excision.
* Significant complication w/anesthesia has been reported [El-Kamah & Mostafa 2009].
Perianal massesSurgical excision is possible.Masses may recur after excision.
Skin nodules
* Dermatology eval
* Plastic surgery eval
Intertriginous, perianal, & neck areas are prone to masses / hypertrophic skin lesions.
Immune deficiency
* Treatment of infection based on site & causative agent
* Consider humoral & cellular immune workup.
PsychosocialConsider family counseling.To develop coping strategies for affected person & family
PT = physiotherapy
### Surveillance
### Table 5.
Recommended Surveillance for Individuals with Hyaline Fibromatosis Syndrome
View in own window
System/ConcernEvaluationFrequency
Gastrointestinal/
Nutrition
* Assessment of antibody levels, albumin
* Assessment for GI malabsorption
* Nutrition assessment
As needed based on clinical presentation
MusculoskeletalClinical history & examination for contracture progression & pain
IntegumentExam for concerning lesions
Immune systemAssessment of antibody levels
ENT/DentalExam for oral lesions affecting feeding/nutrition & → dental complications
CardiologyCardiac assessment
GI = gastrointestinal
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Hyaline Fibromatosis Syndrome
|
c2745948
| 8,644 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1525/
| 2021-01-18T21:19:19 |
{"mesh": ["D057770"], "synonyms": ["Inherited Systemic Hyalinosis"]}
|
The association of bilateral occipital calcifications with epilepsy and, in most cases, with celiac disease has been recognized as a new syndrome, the etiology of which is unknown (Gobbi et al., 1992). Tortorella et al. (1993) described 17-year-old and 14-year-old Italian sisters who had familial calcifications with epilepsy but without celiac disease. Occipital calcifications were unilateral in one and bilateral in the other.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS
|
c1856930
| 8,645 |
omim
|
https://www.omim.org/entry/226810
| 2019-09-22T16:28:10 |
{"mesh": ["C535496"], "omim": ["226810"], "orphanet": ["1459"], "synonyms": ["CEC"]}
|
Tetter refers to any skin condition characterized by reddish vesicular eruptions and intense itching. Common diseases called tetter include:
* Eczema and Duhring's disease
* Herpes
* Porphyria cutanea tarda (PCT)
* Psoriasis
* Ringworm and jock itch
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Tetter
|
None
| 8,646 |
wikipedia
|
https://en.wikipedia.org/wiki/Tetter
| 2021-01-18T18:50:45 |
{"wikidata": ["Q56291629"]}
|
A number sign (#) is used with this entry because susceptibility to Legionnaire disease is associated with polymorphisms in the gene encoding Toll-like receptor-5 (TLR5; 603031).
Description
Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).
Molecular Genetics
Hawn et al. (2003) identified 4 SNPs in the TLR5 coding region in 40 healthy individuals. One of the SNPs, a C-to-T transition at nucleotide 1174, changed arg392 to a stop codon (603031.0001), truncating the extracellular domain and eliminating the transmembrane domain and cytoplasmic tail. Cells expressing the stop codon variant, but not the other 3 variants, were unable to respond to flagellin or to the flagellated bacterium Legionella pneumophila. Hawn et al. (2003) examined genotypes in a case-control cohort from the 1999 Bovenkarspel, Netherlands, flower show LD epidemic and found that 2 of the variants, the stop codon variant and an A-to-G transition at nucleotide 1775 that changed asn592 to ser (603031.0002), were associated with susceptibility to LD independent of smoking, a known risk factor for LD. All cases with the stop codon variant were heterozygotes. No DNA from the 18 fatal cases was available for analysis. Stimulation of a lung cell line with flagellin, but not with the TLR4 (603030) ligand lipopolysaccharide, potently induced dose-dependent production of IL8 (146930) and IL6 (147620). Individuals heterozygous for the stop codon variant produced significantly less IL6 compared with individuals with wildtype TLR5, suggesting a dominant effect of the variant in association with impaired proinflammatory cytokine production. Hawn et al. (2003) noted that the genotype frequency of 1174TC and 1174TT is approximately 10%.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
|
c1837872
| 8,647 |
omim
|
https://www.omim.org/entry/608556
| 2019-09-22T16:07:40 |
{"omim": ["608556"]}
|
## Summary
### Clinical characteristics.
The two clinical presentations observed in autosomal dominant tubulointerstitial kidney disease – REN (ADTKD-REN) correlate with the renin protein domains affected by the causative REN variants.
* Childhood/adolescent onset, the more common presentation (caused by REN variants encoding the signal peptide or prosegment domains), is characterized by decreased estimated glomerular filtration rate, acidosis, hyperkalemia, and anemia early in life, followed by slowly progressive chronic kidney disease (CKD) and gout.
* Adult onset, the less common presentation (caused by REN variants encoding the mature renin peptide), is characterized by gout or mild slowly progressive CKD, beginning in the third decade. Anemia, hyperkalemia, and acidemia do not occur.
### Diagnosis/testing.
The diagnosis of ADTKD-REN is established in a proband with suggestive findings and a heterozygous pathogenic variant in REN identified by molecular genetic testing.
### Management.
Treatment of manifestations: Care by a nephrologist as soon as ADTKD-REN is diagnosed. In persons with childhood/adolescent-onset disease, anemia may be treated with erythropoietin. Fludrocortisone (a pharmacologic analog of aldosterone) corrects aldosterone deficiency (and associated mild hypotension), hyperkalemia, and acidemia. Treatment with fludrocortisone prior to the development of Stage 3 CKD may be indicated.
In all persons with ADTKD-REN, lifelong treatment of hyperuricemia with allopurinol prevents gout. Renal replacement therapies (such as hemodialysis and peritoneal dialysis) can replace renal function, but are associated with potential complications. Kidney transplantation is curative, as the transplanted kidney does not develop the disease.
Surveillance: Childhood/adolescent-onset disease: measurement of hemoglobin concentration and serum concentration of uric acid, bicarbonate, and creatinine at least every six months starting at the time of diagnosis. Adult-onset disease: similar laboratory testing every six to 12 months, depending on the level of kidney function.
Agents/circumstances to avoid: Nonsteroidal anti-inflammatory drugs, especially in persons who are dehydrated. Angiotensin-converting enzyme inhibitors could aggravate the underlying relative renin deficit. Volume depletion and dehydration as well as high meat and seafood intake may worsen hyperuricemia and exacerbate gout. Affected individuals should not be on the low-sodium diet typically used in the treatment of CKD.
Evaluation of relatives at risk: It is appropriate to clarify the genetic status (by molecular genetic testing for the familial REN pathogenic variant) of apparently asymptomatic at-risk relatives, as CKD – one of the primary manifestations of this disorder – is often asymptomatic. Diagnosis of an affected individual as early as possible allows prompt initiation of treatment and awareness of agents/circumstances to avoid. Particularly important are: (1) children and adolescents because of their increased risk for acute kidney injury, anemia, acidemia, and hyperuricemia and gout; and (2) relatives interested in donating a kidney to an affected family member.
### Genetic counseling.
ADTKD-REN is inherited in an autosomal dominant manner. Each child of an affected individual has a 50% chance of inheriting the REN pathogenic variant. Once the REN pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic testing are possible.
## Diagnosis
Consensus clinical diagnostic criteria for autosomal dominant tubulointerstitial kidney disease due to REN pathogenic variants (ADTKD-REN) have been published [Eckardt et al 2015] (full text).
### Suggestive Findings
ADTKD-REN should be suspected in individuals with the following clinical findings (grouped by age) and a family history consistent with autosomal dominant inheritance [Živná et al 2020].
#### Clinical Findings – Childhood/Adolescent-Onset Disease
Low renin production (low to low-normal plasma renin and aldosterone levels associated with the following in most, but not all, individuals) manifesting as:
* Blood pressure that is often borderline low, but usually asymptomatic
* Hyperkalemia (serum potassium levels >5 mEq/L, sometimes as high as 6.5 mEq/L) in about 50% of individuals, often present from birth
* Acidosis (serum bicarbonate levels between 15 and 24 mEq/L), often present from birth
Hypoproliferative anemia in most affected children by age one year characterized by:
* Low erythropoietin concentration
* Low hemoglobin concentrations (usually 9-11 g/dL)
* Low reticulocyte count relative to the hemoglobin concentration
* Otherwise normal hematologic findings
Hyperuricemia resulting from decreased renal excretion of uric acid:
* Hyperuricemia (serum uric acid concentration >6 mg/dL) is present in 80% of affected individuals beginning in childhood.
* Usually, hyperuricemia in an individual with normal kidney function corresponds to a serum concentration of uric acid >1 SD of the normal value for age and sex. It is important to use age-related norms for serum urate [Wilcox 1996] (see Table 1).
* Decreased fractional excretion of urinary uric acid in the vast majority of individuals with ADTKD-REN. See Table 2 for reference ranges by age in individuals with normal kidney function.
The fractional excretion of uric acid is usually <5% in adult men and <6% in adult women. The reduction of urate excretion can be detected in affected children with preserved renal function [Moro et al 1991, McBride et al 1998].
Note: (1) The fractional excretion of urinary uric acid can be measured from a spot urine sample; however, a 24-hour urine collection is preferable. (2) Aspirin, diuretics, and nonsteroidal agents should be avoided during the collection. (3) Because the fractional excretion of uric acid rises above 5% as renal function worsens, this test is not sensitive in individuals who have an eGFR <70 mL/min.
### Table 1.
Serum Uric Acid Concentration in Individuals with Normal Renal Function
View in own window
AgeSerum Concentration (mg/dL)
MalesFemales
<5 yrs3.6±0.93.6±0.9
5-10 yrs4.1±1.04.1±1.0
12 yrs4.4±1.14.5±0.9
15 yrs5.6±1.14.5±0.9
>18 yrs6.2±0.84.0±0.7
Mikkelsen et al [1965], Harkness & Nicol [1969], Wilcox [1996]
### Table 2.
Fractional Excretion of Urinary Uric Acid in Individuals with Normal Renal Function
View in own window
AgeMeanStandard Deviation 1
0-6 wks29.1%11.7
6 wks-1 yr23.9%10.4
1-3 yrs15.2%6.2
3-13 yrs12.2%5.5
>13 yrsFemale8.0%3.7
Male10.3%4.2
Stibůrková et al [2006]
The fractional excretion of urinary uric acid can be calculated as follows: urine uric acid concentration x serum creatinine concentration ÷ serum uric acid concentration x urine creatinine concentration
1\.
A fractional excretion of urate >1 SD below the mean suggests reduced urate excretion.
Gout (due to hyperuricemia) may first appear in the early teen years, but has been described in some younger children.
Kidney
* Estimated glomerular filtration rate (eGFR) of <60 mL/min/1.73 m2 was seen at earliest clinical presentation in most children.
* Bland urinary sediment (i.e., little blood or protein). Hematuria is generally not present, and excretion of protein is <1 g per 24 hours except when CKD is advanced.
* Kidney ultrasound examination shows normal-to-small kidney size without cysts.
* Predisposition to acute, but reversible, kidney injury in the setting of dehydration or viral illness, especially if there has been concomitant treatment with a nonsteroidal anti-inflammatory drug [Bleyer et al 2010b]
#### Clinical Findings – Adult-Onset Disease (from 3rd decade)
Slowly progressive chronic tubulointerstitial kidney disease evident as a slowly rising serum creatinine in the absence of hematuria and proteinuria
Hyperuricemia (serum urate level >6 mg/dL in adults) and gout, resulting from decreased renal excretion of uric acid
#### Family History
Family history consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known family history does not preclude the diagnosis.
### Establishing the Diagnosis
Note: Kidney biopsy should not be performed because it is an invasive procedure with some risk, and pathologic findings are too nonspecific to reliably identify the causative disorder (see Clinical Description). Molecular genetic testing, the gold standard for diagnosis, is safer and less expensive than kidney biopsy.
The diagnosis of ADTKD-REN is established in a proband with suggestive findings and a heterozygous pathogenic variant in REN identified by molecular genetic testing (see Table 3).
Note: Identification of a heterozygous REN variant of uncertain significance does not establish or rule out the diagnosis of this disorder.
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing and multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of ADTKD-REN has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
Single-gene testing. Sequence analysis of REN is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Typically, if no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications; however, to date such variants have not been identified as a cause of this disorder, and thus are unlikely to cause this disorder.
A kidney disease multigene panel that includes REN and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
Comprehensive genomic testing does not require the clinician to determine which gene is likely involved. Exome sequencing is most commonly used; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 3.
Molecular Genetic Testing Used in ADTKD-REN
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
RENSequence analysis 3All variants reported to date 4
Gene-targeted deletion/duplication analysis 5None reported
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Živná et al [2020] and references therein
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.
## Clinical Characteristics
### Clinical Description
In the most comprehensive report of autosomal dominant tubulointerstitial kidney disease due to REN pathogenic variants (ADTKD-REN) to date, comprising 111 individuals from 30 families, Živná et al [2020] observed two clinical presentations, childhood/adolescent onset and adult onset, which correlate with the protein domains encoded by REN variants (see Table 4).
Childhood/adolescent onset, the more common presentation, is caused by REN variants encoding the signal peptide or prosegment domains. It is characterized by decreased estimated glomerular filtration rate (eGFR), acidosis, hyperkalemia, and anemia early in life, followed by slowly progressive chronic kidney disease and gout. Some children also experience polyuria.
Adult onset, the less common presentation, is caused by REN variants encoding the mature renin peptide. It is characterized by gout or mild, slowly progressive CKD, beginning in the third decade. Anemia, hyperkalemia, and acidemia do not occur.
### Table 4.
ADTKD-REN: Comparison of Phenotypes by Genotype and Select Features
View in own window
FeaturesChildhood/Adolescent OnsetAdult Onset
Signal peptide 1Prosegment 1Mature peptide 2
# of families/persons21/694/275/15
Mean age at presentation ± SD19.7±15.7 yrs22.4±20.2 yrs37.0±12.4 yrs
Age at
presentation<10 yrs39%61%0
10-20 yrs32%11%0
>20 yrs29%28%100%
Presented
with:AKI10%00
Anemia, acidosis, CKD13%00
Anemia31%50%0
CKD22%14%25%
Gout25%36%75%
Anemia as child91%69%0
Gout56%65%54%
Age of first gout attack29.7±9.9 yrs25.7±8.2 yrs32.9±11.2 yrs
Age of ESRD53.1±10.6 yrs50.8±17.6 yrs63.6±7.6 yrs
Adapted from Živná et al [2020]
AKI = acute kidney injury; CKD = chronic kidney disease; ESRD = end-stage renal disease
1\.
Correlated with REN variants encoding the signal peptide and prosegment (See Genotype-Phenotype Correlations.)
2\.
Correlated with REN variants encoding the mature peptide (See Genotype-Phenotype Correlations.)
#### Childhood/Adolescent Onset
Individuals often present between birth and age ten years with manifestations related to renin deficiency. As renin is important in prenatal kidney development, the eGFR is low (usually <60 mL/min/1.73 m2) from early in life. These individuals frequently have mildly low blood pressure, hyperkalemia, acidosis, and hyperkalemia. They often first come to medical attention with acute kidney injury during a viral infection [Bleyer et al 2010a]. Although acute kidney failure usually resolves if treated appropriately, chronic kidney disease remains, and the associated findings of hyperkalemia, anemia, and acidemia are first noted.
Chronic kidney disease may slowly worsen in the second decade; acidemia and hyperkalemia persist. Gout may develop at this time due to decreased renal excretion of uric acid.
Despite low eGFR at presentation, only one child required renal replacement therapy at age 15 years; others did not reach end-stage renal disease (ESRD) until after age 30 years (mean age ~52 years). For these individuals, kidney function continues to worsen very slowly over time, with a mean age of ESRD of 53 in the signal peptide group and 51 in the prosegment group (see Table 4).
#### Adult Onset
Individuals present in their twenties with gout and chronic kidney disease. Gout is easily controlled with allopurinol. The serum creatinine slowly rises with slow progression to ESRD at a mean age of 64 years [Živná et al 2020]. Although CKD occurs in all individuals with adult-onset disease, progression may be very slow, with ESRD occurring as late as the seventh decade in some individuals.
#### Kidney Biopsy
The following information is provided in the event that some affected individuals (or their relatives) may have undergone kidney biopsy prior to consideration of ADTKD-REN as a diagnostic possibility.
Histologic examination reveals focal tubular atrophy, secondary glomerular scarring, and interstitial fibrosis [Zivná et al 2009]. Early in the disease course immunostaining for renin and prorenin is markedly decreased (compared to control tissues) in the granular cells of the juxtaglomerular apparatus and undetectable in the tubular epithelium. In advanced stages, neither the granular cells of the juxtaglomerular apparatus or the tubular epithelium stain for renin or prorenin.
### Genotype-Phenotype Correlations
The following phenotype-genotype correlations have been identified based on the REN variants encoding the signal peptide and prosegment protein domains [Živná et al 2020, Table 4]. See Table 7 for details about specific REN pathogenic variants.
Childhood/adolescent-onset disease with a more severe disease course is associated with the following:
* REN variants involving nucleotides c.45-113 in exon 1, which encode the signal peptide domain (i.e., the first 23 amino acids of preprorenin)
* REN variants involving nucleotides c.114-242 in exon 1 and exon 2, which encode the prosegment protein domain (i.e., amino acids 24-66 of preprorenin)
Adult-onset and milder disease course is associated with REN variants involving nucleotides c.243-1262 in exons 2 to 10, which encode the mature renin peptide segment of preprorenin (i.e., amino acids 67-406).
### Penetrance
Penetrance is age related. Thus, in individuals with childhood-onset disease, manifestations of ADTKD-REN, especially anemia, are evident early in life; and in individuals with adult-onset disease, manifestations (gout and chronic kidney disease) do not become evident until adulthood.
### Nomenclature
According to the 2015 nomenclature [Eckardt et al 2015], the term "autosomal dominant tubulointerstitial kidney disease" (ADTKD) refers to disorders characterized by the following:
* Autosomal dominant inheritance
* Slowly progressive chronic tubulointerstitial kidney disease resulting in ESRD in the third through seventh decade of life
* Urinalysis revealing a bland urinary sediment (i.e., little blood or protein)
* Renal ultrasound examination that is normal early in the disease course [Bleyer et al 2010a]
### Prevalence
ADTKD-REN is extremely rare, with approximately 30 families reported worldwide [Živná et al 2020 and references therein].
The prevalence of disease is expected to be similar in all populations.
## Differential Diagnosis
See Figure 1 for a diagnostic algorithm for inherited kidney disease.
#### Figure 1.
Testing strategy for inherited kidney disease
### Table 5.
Monogenic Kidney Diseases in the Differential Diagnosis of ADTKD-REN
View in own window
Gene(s)DisorderMOIRenal PhenotypeDistinguishing Features of Disorder
CEP290
INVS
IQCB1
NPHP1
NPHP3
NPHP4
TMEM67
(19 genes 1)Isolated nephronophthisis (NPH)ARTubulointerstitial kidney disease; often seen in childhood & can be assoc w/anemia & mild hypotension
* Absence of affected family members in multiple generations
* Anemia usually correlates w/level of kidney function (i.e., may not be present in childhood).
* Severity of kidney failure is usually much greater (usually requiring dialysis in teens & early 20s).
* Hyperkalemia & acidemia are not as pronounced.
COL4A3
COL4A4
COL4A5Alport syndrome (& other types of hereditary glomerulonephritis)XL
AR
ADMicroscopic hematuria (microhematuria), proteinuria, progression to ESRD
* Frequent cochlear & ocular manifestations
* Hematuria is present.
* Much more severe in males than in females
DNAJB11
GANAB
PKD1
PKD2Autosomal dominant polycystic kidney disease (ADPKD)ADBland urinary sediment 2; large # of cysts > age 25 yrsNumerous cysts seen on kidney ultrasound
GLAFabry disease, classic formXLProteinuria (usually ↑ than in ADTKD-UMOD); gradual deterioration of renal function to ESRD in ~3rd-5th decade 3Classic form (males w/<1% α-Gal A activity) usually has onset in childhood or adolescence w/periodic crises of severe pain in extremities (acroparesthesias); vascular cutaneous lesions (angiokeratomas), hypohidrosis, & characteristic corneal & lenticular opacities.
MUC1ADTKD-MUC1ADMinimal proteinuria; slowly progressive CKDOnly clinical findings are chronic kidney disease & its sequelae. 4
UMODADTKD-UMODADProteinuria is rare; slowly progressive CKD
* Not assoc w/anemia in childhood or acidemia & hyperkalemia often seen in ADTKD-REN 4
* Phenotype is indistinguishable from adult-onset ADTKD-REN.
DNAJB11 4Atypical ADPKD-ADTKDADSlowly progressive CKD, multiple renal cystsNumerous kidney cysts are common.
HNF1BADTKD-HNF1BADVariable other manifestations incl maturity-onset diabetes of the young, hyperuricemia & gout, CKD, CAKUT, & unexplained liver function abnormalitiesIncomplete penetrance for characteristic renal involvement & absence of other variable manifestations
mtDNAm.547A>T 5MatChronic tubulointerstitial kidney diseaseAbsence of childhood anemia, hyperkalemia, & acidemia
PAX2PAX2-related disorderADGlomerular proteinuria, hematuria, CKD, & ocular colobomaAbsence of hematuria, proteinuria, & coloboma
SEC61A1ADTKD-SEC61A1ADSlowly progressive CKD, leukopenia, abscess formation, & intrauterine & postnatal growth restrictionAbsence of leukopenia, abnormal growth
α-Gal A = alpha-galactosidase A; AD = autosomal dominant; AR = autosomal recessive; CAKUT = congenital anomalies of the kidneys and urinary tract; CKD = chronic kidney disease; ESRD = end-stage renal disease; Mat = maternal; MOI = mode of inheritance; XL = X-linked
1\.
Listed genes represent the most common genetic causes of isolated nephronophthisis. Other genes known to be associated with nephronophthisis are ANKS6, CEP164, CEP83, DCDC2, GLIS2, IFT172, NEK8, RPGRIP1L, SDCCAG8, TTC21B, WDR19, and ZNF423.
2\.
"Bland" refers to urinary sediment with little blood or protein.
3\.
Males with >1% alpha-galactosidase A activity have a cardiac or renal variant phenotype. Rarely, heterozygous carrier females may have symptoms as severe as those observed in males with the classic phenotype.
4\.
Devuyst et al [2019]
5\.
Connor et al [2017]
## Management
Consensus management guidelines for autosomal dominant tubulointerstitial kidney disease due to pathogenic variants in REN (ADTKD-REN) have been published [Eckardt et al 2015] (full text).
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with ADTKD-REN, the evaluations summarized in Table 6 (if not performed as part of the evaluation that led to the diagnosis) are recommended.
### Table 6.
Recommended Evaluations Following Initial Diagnosis in Individuals with ADTKD-REN
View in own window
System/ConcernEvaluation 1
Anemia
* Hemoglobin level
* In childhood/adolescent-onset ADTKD-REN: possibly erythropoietin level
AcidosisSerum bicarbonate (part of basic metabolic panel)
HyperkalemiaSerum potassium (part of basic metabolic panel)
Gout riskSerum urate
HypotensionIn childhood/adolescent-onset ADTKD-REN: plasma renin/aldosterone level
PolyuriaIn childhood/adolescent-onset ADTKD-REN:
* Obtain history for enuresis & excessive thirst or urination.
* 24-hr urine collection to quantify urine output
Kidney functionSerum creatinine (part of basic metabolic panel)
Nephrology referral
Kidney structureEval by kidney ultrasound
Genetic counselingEval by genetics professionals 2 to inform patients re nature, MOI, & implications of ADTKD-REN to facilitate medical & personal decision making
MOI = mode of inheritance
1\.
Applies to both presentations of ADTKD-REN except where indicated
2\.
Medical geneticist, certified genetic counselor, or certified advanced genetic nurse
### Treatment of Manifestations
Care by a nephrologist is recommended.
#### Childhood/Adolescent-Onset Disease Only
Anemia may be reversed by treatment with erythropoietin [Zivná et al 2009], a medication that is given subcutaneously and managed by hematologists or pediatric nephrologists. Dose is based on response to therapy. No clear target dose has been established to date; dosage is left to the discretion of the hematologist or nephrologist.
Many children have relatively mild anemia with hemoglobin levels of 10-11 g/dL, and can be safely followed off erythropoietin.
Note: The dose of erythropoietin will need to be reduced as hemoglobin concentration increases during adolescence.
Iron stores should be replenished as needed to treat iron deficiency (an unrelated condition) if it is present.
Mild hypotension, hyperkalemia, and acidemia. Fludrocortisone, a synthetic analog of aldosterone, has been used for many years as a form of aldosterone replacement. In individuals with childhood/adolescent-onset ADTKD-REN, fludrocortisone corrects aldosterone deficiency and associated mild hypotension, as well as serum levels of urate, potassium, and bicarbonate.
In a retrospective cohort study [Živná et al 2020], treatment of acidosis with sodium bicarbonate was often suboptimal (i.e., treated serum bicarbonate levels <24 mEq/L); whereas individuals receiving fludrocortisone were more likely to have a serum bicarbonate level >24 mEq/L. Another consideration is that the small dose of the fludrocortisone pill (0.1 mg) vs the higher dose required for sodium bicarbonate (often >1300 mg/day) is favorable, especially for children.
Because fludrocortisone increases estimated glomerular filtration rate (eGFR), fludrocortisone treatment should be started prior to chronic kidney disease (CKD) Stage 3 (eGFR >60 mL/min/1.73 m2). Note: When eGFR is <60 mL/min/1.73 m2, fluid retention and hypertension may develop from fludrocortisone [Author, personal observation].
Hypotension is usually asymptomatic but will respond to a dietary sodium intake of 3-4 g/day, administration of sodium bicarbonate tablets, or the use of fludrocortisone.
Acidosis can be treated with sodium bicarbonate tablets or sodium citrate in a liquid formulation, dosed based on body size and degree of acidemia; however, Živná et al [2020] found that treatment of acidemia with sodium bicarbonate was often suboptimal.
Hyperkalemia responds to dietary potassium restriction; administration of sodium bicarbonate will also lower serum potassium.
Risk of acute kidney injury. The use of nonsteroidal anti-inflammatory drugs (NSAIDs) in a febrile child with ADTKD-REN precipitated acute renal failure [Bleyer et al 2010b]. The use of other analgesics/antipyretics should be considered.
#### Both Childhood/Adolescent-Onset and Adult-Onset Disease
Hyperuricemia/gout. Prevention of gout attacks with allopurinol should be considered in individuals with gout. With allopurinol treatment, serum uric acid concentration returns to normal and gout attacks can be entirely prevented. Lifelong therapy with allopurinol is required for future gout prevention.
Acute gout typically responds well to prednisone or colchicine. Prednisone is preferred to nonsteroidal anti-inflammatory drugs because the combination of NSAIDs and the low renin state in individuals with ADTKD-REN can lead to acute kidney injury.
For individuals with allergies or intolerance to allopurinol, febuxostat may be considered.
Renal disease. Refer to a nephrologist to monitor kidney function, evaluate for manifestations of chronic kidney disease, and prepare for renal replacement therapy when ESRD occurs. Note: Affected individuals should not be on the low-sodium diet typically used in the treatment of CKD.
Renal replacement therapies such as hemodialysis and peritoneal dialysis replace renal function but are associated with potential complications.
Kidney transplantation cures ADTKD-REN, as the transplanted kidney does not develop the disease.
### Surveillance
Childhood/adolescent-onset disease. Monitor blood pressure, serum potassium, bicarbonate, creatinine, and hemoglobin at least every six months.
Adult-onset disease. Monitor blood pressure, serum potassium, bicarbonate, creatinine, and hemoglobin every six to 12 months, depending on the level of kidney function.
### Agents/Circumstances to Avoid
Avoid use of the following:
* NSAIDs, especially in a person who is dehydrated or in a febrile child, as they can precipitate acute renal failure [Bleyer et al 2010b]. The use of other analgesics/antipyretics should be considered.
* Angiotensin-converting enzyme inhibitors, which may not be beneficial in the treatment of CKD and could aggravate the underlying relative renin deficit
* Drugs known to be nephrotoxic
* The low-sodium diet typically prescribed in the treatment of CKD
Avoid the following, which may worsen hyperuricemia, leading to more frequent attacks of gout:
* Volume depletion, dehydration, and physical exertion under extreme conditions (e.g., when it is hot)
* High meat and seafood intake
### Evaluation of Relatives at Risk
For early diagnosis and treatment. It is appropriate to clarify the genetic status of apparently asymptomatic* at-risk relatives (by molecular genetic testing for the familial REN pathogenic variant) to identify individuals with the familial REN variant as early as possible in order to monitor their serum creatinine levels, and promptly initiate treatment and awareness of agents/circumstances to avoid. Early evaluation of children and adolescents is particularly important because of their increased risk for acute kidney injury, anemia, acidemia, and hyperuricemia.
* Chronic kidney disease, one of the primary manifestations of this disorder, is often asymptomatic.
For kidney donation. Any relative who is a potential kidney donor should undergo molecular genetic testing to clarify his/her genetic status so that only those who do not have the REN pathogenic variant are evaluated further.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Successful pregnancies have been documented in women with ADTKD-REN. The rate of miscarriages or other adverse outcomes was not increased.
Allopurinol. Published data on the fetal risk associated with use of allopurinol during pregnancy is limited. While a number of pregnancies in which allopurinol use resulted in the birth of healthy infants, the rare occurrence of a pattern of malformations similar to that observed in women who took mycophenolate mofetil during pregnancy was reported in two infants born to women who took allopurinol throughout pregnancy [Kozenko et al 2011, Hoeltzenbein et al 2013]. This finding is concerning because the mechanism of action of allopurinol (inhibiting purine degradation) is similar to the mechanism of action of mycophenolate mofetil (inhibition of de novo purine biosynthesis).
In the authors' experience, in ADTKD-REN, most women complete pregnancy without developing gout while not on allopurinol; therefore, the authors recommend discontinuing use of allopurinol during pregnancy.
Prednisone. Use of prednisone during pregnancy has been associated with fetal growth restriction. Use in the first trimester of pregnancy is associated with a slightly increased risk of orofacial clefting [Carmichael et al 2007].
Colchicine. Chronic use of colchicine that includes the immediate preconception and conception period has been associated with an increased risk of fetal chromosome abnormalities [Berkenstadt et al 2005]. However, the risk of adverse fetal outcome for short courses of colchicine during pregnancy outside of the periconceptional period is low.
Erythropoietin use during pregnancy is unlikely to lead to congenital anomalies in the fetus [Cyganek et al 2011].
Fludrocortisone. Women who use high doses of fludrocortisone during pregnancy may be at increased risk of having an infant who has clinical hyperaldosteronism (see Prescribing Information).
See MotherToBaby for further information on medication use during pregnancy.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Autosomal Dominant Tubulointerstitial Kidney Disease – REN
|
None
| 8,648 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK53700/
| 2021-01-18T21:41:23 |
{"synonyms": ["ADTKD-REN", "Familial Juvenile Hyperuricemic Nephropathy Type 2 (FJHN2)"]}
|
A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
## Epidemiology
Prevalence is estimated between 1/100,000 and 1/1,000,000. The condition is more prevalent in the Mediterranean area and in areas where consanguineous marriages are common.
## Clinical description
Combined FV and FVIII deficiency can manifest at any age. Epistaxis, easy bruising, post-surgical or post partum bleeding and menorrhagia are the most common symptoms. Hemarthrosis and muscular hematomas may occur. The symptoms are usually mild.
## Etiology
Combined deficiency of factor V and factor VIII is caused by mutations either in the LMAN1 gene (chromosome 18; 18q21) or in the MCFD2 gene (chromosome 2; 2p21). LMAN1 encodes ERGIC-53, a transmembrane lectin, while MCFD2 is an EF-hand-containing protein. The ERGIC-53/MCFD2 protein complex functions as a cargo receptor that facilitates the transport of coagulation factors V and VIII from the endoplasmic reticulum to the Golgi apparatus. Mutations in LMAN1 account for approximately 70% of cases and include only null mutations. Mutations in MCFD2 account for approximately 30% of cases and include both null and missense mutations.
## Diagnostic methods
Diagnosis is based on the measurement of factor V and factor VIII levels and on the detection of prolonged activated partial thromboplastin and prothrombin times. Levels of factor V and factor VIII range from as low as 1% to as high as 46%, but generally fall between 5% and 30%.
## Differential diagnosis
Differential diagnosis includes co-inheritance of both FV deficiency (chromosome 1) and FVIII deficiency (chromosome X).
## Genetic counseling
Transmission is autosomal recessive.
## Management and treatment
Management aims at controlling the bleeding and includes treatments with fresh frozen plasma, FVIII concentrates and desmopressin administration.
## Prognosis
The prognosis is favorable for moderate forms of the disease. Management of patients with more severe forms should be carried out at a specialized center.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Combined deficiency of factor V and factor VIII
|
c1856883
| 8,649 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35909
| 2021-01-23T19:07:16 |
{"mesh": ["C565577"], "omim": ["227300", "227310", "613625"], "umls": ["C1856883"], "icd-10": ["D68.8"], "synonyms": ["F5F8D", "FV and FVIII combined deficiency"]}
|
Multiple hamartoma syndrome
SpecialtyOncology, medical genetics
Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma.[1]:673
It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS).
## See also[edit]
* PTEN (gene)
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* OMIM: 158350
* MeSH: D006223
* DiseasesDB: 31336
* v
* t
* e
Phakomatosis
Angiomatosis
* Sturge–Weber syndrome
* Von Hippel–Lindau disease
Hamartoma
* Tuberous sclerosis
* Hypothalamic hamartoma (Pallister–Hall syndrome)
* Multiple hamartoma syndrome
* Proteus syndrome
* Cowden syndrome
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
Neurofibromatosis
* Type I
* Type II
Other
* Abdallat–Davis–Farrage syndrome
* Ataxia telangiectasia
* Incontinentia pigmenti
* Peutz–Jeghers syndrome
* Encephalocraniocutaneous lipomatosis
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
*[lit.]: literal translation
|
Multiple hamartoma syndrome
|
c1959582
| 8,650 |
wikipedia
|
https://en.wikipedia.org/wiki/Multiple_hamartoma_syndrome
| 2021-01-18T19:00:10 |
{"gard": ["12800"], "mesh": ["D006223"], "umls": ["C1959582"], "orphanet": ["306498"], "wikidata": ["Q3508737"]}
|
Cooper and Jabs (1987) described the cases of 2 sisters born with atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and mental retardation. A tabular review of disorders associated with aural atresia was provided.
Neuro \- Mental retardation Inheritance \- Autosomal recessive Skeletal \- Clubfoot Ears \- Auditory canal atresia GI \- Anus anteriorly displaced Cardiovascular \- Ventricular septal defect ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
|
c1859591
| 8,651 |
omim
|
https://www.omim.org/entry/209770
| 2019-09-22T16:30:36 |
{"mesh": ["C565923"], "omim": ["209770"], "orphanet": ["1488"]}
|
Scheuermann's disease
Other namesScheuermann's kyphosis, Calvé disease, idiopathic juvenile kyphosis of the spine
Scheuermann's disease on lateral Xray of the T spine
Pronunciation
* /ˈʃuːərmən/, though very often mispronounced as 'Sherman'
SpecialtyOrthopaedics, Rheumatology Osteopathy, Chiropractic
ComplicationsChronic pain, lower than average bone density hence greater risk for osteoporosis and osteopenia[1]
Usual onsetAdolescence
DurationLifelong
TypesUnknown, genetic factors
TreatmentPhysical therapy, avoiding excessive weight bearing exercises, back brace, surgery
PrognosisSelf-limiting
Frequency5% (range 0.4% - 8%)[2]
A pre-operative image of a 22-year-old male with a very extreme case of Scheuermann's disease
Scheuermann's disease is a self-limiting skeletal disorder of childhood. Scheuermann's disease describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior. This uneven growth results in the signature "wedging" shape of the vertebrae, causing kyphosis. It is named after Danish surgeon Holger Scheuermann.[3][4][5]
## Contents
* 1 Signs and symptoms
* 1.1 Associated conditions
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 Conservative
* 4.2 Surgery
* 5 Prognosis
* 6 Notable cases
* 7 References
* 8 External links
## Signs and symptoms[edit]
Scheuermann's disease is considered to be a form of juvenile osteochondrosis of the spine. It is found mostly in teenagers and presents a significantly worse deformity than postural kyphosis. Patients suffering with Scheuermann’s kyphosis cannot consciously correct their posture. The apex of their curve, located in the thoracic vertebrae, is quite rigid.[citation needed]
Scheuermann's disease is notorious for causing lower and mid-level back and neck pain, which can be severe and disabling. The sufferer may feel pain at the apex of the curve, which is aggravated by physical activity and by periods of standing or sitting; this can have a significantly detrimental effect to their lives as their level of activity is curbed by their disability. The sufferer may feel isolated or uneasy amongst their peers if they are children, depending on the level of deformity.[citation needed]
In addition to the pain associated with Scheuermann's disease, many sufferers of the disorder have loss of vertebral height, and depending on where the apex of the curve is, may have a visual 'hunchback' or 'roundback'. It has been reported that curves in the lower thoracic region cause more pain, whereas curves in the upper region present a more visual deformity. Nevertheless, it is typically pain or cosmetic reasons that prompt sufferers to seek help for their condition. In studies, kyphosis is better characterized for the thoracic spine than for the lumbar spine.[6][7]
The seventh and tenth thoracic vertebrae are most commonly affected. It causes backache and spinal curvature. In very serious cases it may cause internal problems and spinal cord damage, but these cases are extremely rare. The curvature of the back decreases height, thus putting pressure on internal organs, wearing them out more quickly than the natural aging process; surgical procedures are almost always recommended in this case.[citation needed]
### Associated conditions[edit]
Many with Scheuermann's disease often have an excessive lordotic curve in the lumbar spine; this is the body's natural way to compensate for the kyphotic curve above. Many with Scheuermann's disease have very large lung capacities and males often have broad, barrel chests. Most people have forced vital capacity (FVC) scores above average. It has been proposed that this is the body's natural way to compensate for a loss of breathing depth.[citation needed]
Often patients have tight hamstrings, which, again, is related to the body compensating for excessive spinal curvature, though this is also debated (for example, some suggest the tightness of ligament is the initial cause of the growth abnormality). In addition to the common lordosis, it has been suggested that between 20–30% of patients with Scheuermann's Disease also have scoliosis, though most cases are negligible. In more serious cases, however, the combination is classified as a separate condition known as kyphoscoliosis.[citation needed]
Patients with Scheurmann's disease are prone to having a lower than average bone density. They are hence at a statistical greater long term risk for osteopenia and osteoperosis, the reason for this is unknown.[1]
## Causes[edit]
The cause is not currently known, and the condition appears to be multifactorial.[8] Several candidate genes (such as FBN1, which has been associated with Marfan) have been proposed and excluded.[9]
## Diagnosis[edit]
A 20-year-old male with Scheuermann's disease, showing various measurement of kyphotic/lordotic degrees and their supplementary angles. Notice the signature 'wedging' shape of the four vertebrae in the lower thoracic area. The other vertebral bodies are otherwise normal. The measured kyphosis for this patient is ~70°.
Scheuermann's disease on lateral CT of the T spine
Diagnosis is typically by medical imaging. The degree of kyphosis can be measured by Cobb's angle and sagittal balance.[citation needed]
## Treatment[edit]
### Conservative[edit]
Scheuermann's disease is self-limiting after growth is complete, meaning that it generally runs its course and never presents further complication. Typically, however, once the patient is fully grown, the bones will maintain the deformity. For this reason, there are many treatment methods and options available that aim to correct the kyphosis while the spine is still growing, and especially aim to prevent it from worsening.[citation needed]
While there is no explanation for what causes Scheuermann's Disease, there are ways to treat it. For less extreme cases, manual medicine, physical therapy and/or back braces can help reverse or stop the kyphosis before it does become severe. Because the disease is often benign, and because back surgery includes many risks, surgery is usually considered a last resort for patients. In severe or extreme cases, patients may be treated through an extensive surgical procedure in an effort to prevent the disease from worsening or harming the body.
In Germany, a standard treatment for both Scheuermann's disease and lumbar kyphosis is the Schroth method, a system of specialized physical therapy for scoliosis and related spinal deformities.[10] The method has been shown to reduce pain and decrease kyphotic angle significantly during an inpatient treatment program.[11][12]
### Surgery[edit]
A post-operative X-ray of a 22-year-old male with Scheuermann's disease. After a 12-level spinal fusion to correct the excessive curvature, the person now presents a normal degree of kyphosis, with a minimal loss of flexibility.
Scheuermann's disease can be successfully corrected with surgical procedures, almost all of which include spinal fusion and hardware instrumentation, i.e., rods, pedicle screws, etc. While many patients are typically interested in getting surgery for their correction, it is important to realize the surgery aims to reduce pain, and not cosmetic defect. As always, surgical intervention should be used as a last resort once conservative treatment fails or the patient's health is in imminent danger as any surgical procedure is not without risk. However, the chances of complication are relatively low, and the surgeries are often successful.[citation needed]
There are two primary surgical techniques to correct kyphosis: posterior-only fusion and anterior/posterior fusion. While debate lingers over which surgical approach is optimal, several studies published since 2018 suggest treatment trends are favoring posterior-only fusion.[13][14][15]
The classic surgical procedure entails entering two titanium rods, each roughly 1.5 feet (0.46 m) long (depending on the size of the kyphosis) into the back on either side of the spine. Eight titanium screws and hardware are drilled through the bone to secure the rods onto either side of the spine. On the internal-facing side of the spine, ligaments (which can be too short, pulling the spine into its abnormal shape) must be surgically cut or released, not only stopping part of the cause of the kyphosis, but also allowing the titanium rods to pull the spine into a more natural position. The damaged discs between the troubled vertebrae (wedged vertebrae) are normally removed and replaced with bone grafting from the hip or other parts of the vertebrae, which once healed or "fused" will solidify. The titanium instrumentation holds everything in place during healing. The patient can expect to remain in hospital for minimum of a week, and possibly longer. They may then be required to wear a brace for several months more to ensure the spine heals appropriately. The titanium instrumentation may stay in the body permanently, or be removed years later. Patients who have undergone such surgery may need physical therapy to manage pain and mobility. Recovery can be prolonged: typically patients are not allowed to lift anything above 5–10 pounds (2.3–4.5 kg) for 6 months to 1 year, and many are out of work for at least 6 months. However, once the fusion is solidified, most patients can return to their usual lifestyle within 1–2 years.[citation needed]
## Prognosis[edit]
Spinal fusion for kyphosis and scoliosis is an extremely invasive surgery. The risk of complications is estimated to be about 10%. Possible complications may be inflammation of the soft tissue or deep inflammatory processes, breathing impairments, bleeding and nerve injuries, or infection. As early as five years after surgery around 5% require reoperation and long-term issues remain unclear.[16][17] Taking into account that some of the symptoms of the spinal deformity cannot be changed by surgical intervention, surgery remains a cosmetic indication,[16][18] though the cosmetic effects of surgery are not necessarily stable.[16]
## Notable cases[edit]
* Milan Lucic, NHL hockey player for the Calgary Flames[19]
* Hunter Pence, professional baseball player for the San Francisco Giants[20]
* George Sampson, winner of the second series of Britain's Got Talent[21]
* Marcel Dettmann, leading German techno DJ[22]
* Angus Gardner, Australian Rugby Union referee[23]
## References[edit]
1. ^ a b Yuxi Chen, MD, Andrew Bloomfield, MD, Amara Nasir, MD. "Scheuermann's disease". Statistics Canada. Retrieved 17 January 2021.CS1 maint: multiple names: authors list (link)
2. ^ https://radiopaedia.org/articles/scheuermann-disease-2
3. ^ synd/3305 at Who Named It?
4. ^ Scheuermann, H. W. (1920). "Kyphosis dorsalis juvenilis". Ugeskrift for Læger (in Danish). 82: 385–93. Republished as: Scheuermann, H. W. (1977). "The classic: Kyphosis dorsalis juvenilis". Clinical Orthopaedics and Related Research. 128 (128): 5–7. PMID 340099.
5. ^ "Scheuermann's disease". Medcyclopaedia. GE. Archived from the original on 2012-05-24.
6. ^ Summers, B N; Singh, J P; Manns, R A (2008). "The radiological reporting of lumbar Scheuermann's disease: An unnecessary source of confusion amongst clinicians and patients". The British Journal of Radiology. 81 (965): 383–5. doi:10.1259/bjr/69495299. PMID 18440942.
7. ^ Blumenthal, Scott L.; Roach, James; Herring, J. A. (1987). "Lumbar Scheuermannʼs". Spine. 12 (9): 929–32. doi:10.1097/00007632-198711000-00015. PMID 3441839. S2CID 42294338.
8. ^ Fotiadis, E.; Kenanidis, E.; Samoladas, E.; Christodoulou, A.; Akritopoulos, P.; Akritopoulou, K. (2008). "Scheuermann's disease: Focus on weight and height role". European Spine Journal. 17 (5): 673–8. doi:10.1007/s00586-008-0641-x. PMC 2367416. PMID 18301929.
9. ^ McKenzie, L; Sillence, D (1992). "Familial Scheuermann disease: A genetic and linkage study". Journal of Medical Genetics. 29 (1): 41–5. doi:10.1136/jmg.29.1.41. PMC 1015820. PMID 1552543.
10. ^ Lehnert-Schroth, Christa (2007). Three-Dimensional Treatment for Scoliosis: A Physiotherapeutic Method for Deformities of the Spine. Palo Alto, CA: The Martindale Press. pp. 185–187, 211–17, and passim. ISBN 978-3-8334-8138-3.
11. ^ Weiss HR, Dieckmann J, Gerner HJ (2002). "Effect of intensive rehabilitation on pain in patients with Scheuermann's disease". Stud Health Technol Inform. 88: 254–7. PMID 15456045.
12. ^ Weiss HR, Dieckmann J, Gerner HJ (2002). "Outcome of in-patient rehabilitation in patients with M. Scheuermann evaluated by surface topography". Stud Health Technol Inform. 88: 246–9. PMID 15456043.
13. ^ Horn, Samantha R.; Poorman, Gregory W.; Tishelman, Jared C.; Bortz, Cole A.; Segreto, Frank A.; Moon, John Y.; Zhou, Peter L.; Vaynrub, Max; Vasquez-Montes, Dennis; Beaubrun, Bryan M.; Diebo, Bassel G. (2019-01-01). "Trends in Treatment of Scheuermann Kyphosis: A Study of 1,070 Cases From 2003 to 2012". Spine Deformity. 7 (1): 100–106. doi:10.1016/j.jspd.2018.06.004. ISSN 2212-134X. PMC 7102192. PMID 30587300.
14. ^ Huq, Sakibul; Ehresman, Jeffrey; Cottrill, Ethan; Ahmed, A. Karim; Pennington, Zach; Westbroek, Erick M.; Sciubba, Daniel M. (2019-11-01). "Treatment approaches for Scheuermann kyphosis: a systematic review of historic and current management". Journal of Neurosurgery: Spine. -1 (aop): 235–247. doi:10.3171/2019.8.SPINE19500. PMID 31675699.
15. ^ Riouallon, Guillaume; Morin, Christian; Charles, Yann-Philippe; Roussouly, Pierre; Kreichati, Gaby; Obeid, Ibrahim; Wolff, Stéphane; French Scoliosis Study Group (2018-09-01). "Posterior-only versus combined anterior/posterior fusion in Scheuermann disease: a large retrospective study". European Spine Journal. 27 (9): 2322–2330. doi:10.1007/s00586-018-5633-x. ISSN 1432-0932. PMID 29779056. S2CID 29169417.
16. ^ a b c Hawes, Martha (2006). "Impact of spine surgery on signs and symptoms of spinal deformity". Developmental Neurorehabilitation. 9 (4): 318–39. doi:10.1080/13638490500402264. PMID 17111548. S2CID 20680230.
17. ^ Weiss, Hans-Rudolf; Goodall, Deborah (2008). "Rate of complications in scoliosis surgery – a systematic review of the Pub Med literature". Scoliosis. 3: 9. doi:10.1186/1748-7161-3-9. PMC 2525632. PMID 18681956.
18. ^ Hawes, Martha C.; O'Brien, Joseph P. (2008). "A century of spine surgery: What can patients expect?". Disability & Rehabilitation. 30 (10): 808–17. doi:10.1080/09638280801889972. PMID 18432439. S2CID 19443315.
19. ^ Shinzawa, Fluto (2007-10-18). "Bruins rookie Lucic punches up résumé – The Boston Globe". Boston.com. Retrieved 2010-08-31.
20. ^ Rosenthal, Ken (12 October 2014). "There's a good reason why Hunter Pence throws like that". Fox Sports. Retrieved 13 October 2014.
21. ^ "One Year On George Sampson". The Times. London. 2009-05-17. Retrieved 2010-05-23.
22. ^ Telekom Electronic Beats (3 July 2013). "MARCEL DETTMANN In the car with EB.TV" – via YouTube.
23. ^ Robinson, Georgina (17 March 2018). "The secret life of referees featuring Australian Angus Gardner". Sydney Morning Herald. Retrieved 2 April 2018.
## External links[edit]
* http://www.emedicine.com/pmr/topic129.htm
Classification
D
* ICD-10: M42.0
* ICD-9-CM: 732.0
* OMIM: 181440
* MeSH: D012544
* DiseasesDB: 11845
External resources
* eMedicine: orthoped/555 pmr/129
Wikimedia Commons has media related to Scheuermann's disease.
* v
* t
* e
Spinal disease
Deforming
Spinal curvature
* Kyphosis
* Lordosis
* Scoliosis
Other
* Scheuermann's disease
* Torticollis
Spondylopathy
inflammatory
* Spondylitis
* Ankylosing spondylitis
* Sacroiliitis
* Discitis
* Spondylodiscitis
* Pott disease
non inflammatory
* Spondylosis
* Spondylolysis
* Spondylolisthesis
* Retrolisthesis
* Spinal stenosis
* Facet syndrome
Back pain
* Neck pain
* Upper back pain
* Low back pain
* Coccydynia
* Sciatica
* Radiculopathy
Intervertebral disc disorder
* Schmorl's nodes
* Degenerative disc disease
* Spinal disc herniation
* Facet joint arthrosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Scheuermann's disease
|
c0036310
| 8,652 |
wikipedia
|
https://en.wikipedia.org/wiki/Scheuermann%27s_disease
| 2021-01-18T18:55:16 |
{"gard": ["7610"], "mesh": ["D012544"], "umls": ["C0036310"], "orphanet": ["3135"], "wikidata": ["Q1532790"]}
|
Facial trauma
1865 illustration of a private injured in the American Civil War by a shell two years previously
SpecialtyOral and maxillofacial surgery
Facial trauma, also called maxillofacial trauma, is any physical trauma to the face. Facial trauma can involve soft tissue injuries such as burns, lacerations and bruises, or fractures of the facial bones such as nasal fractures and fractures of the jaw, as well as trauma such as eye injuries. Symptoms are specific to the type of injury; for example, fractures may involve pain, swelling, loss of function, or changes in the shape of facial structures.
Facial injuries have the potential to cause disfigurement and loss of function; for example, blindness or difficulty moving the jaw can result. Although it is seldom life-threatening, facial trauma can also be deadly, because it can cause severe bleeding or interference with the airway; thus a primary concern in treatment is ensuring that the airway is open and not threatened so that the patient can breathe. Depending on the type of facial injury, treatment may include bandaging and suturing of open wounds, administration of ice, antibiotics and pain killers, moving bones back into place, and surgery. When fractures are suspected, radiography is used for diagnosis. Treatment may also be necessary for other injuries such as traumatic brain injury, which commonly accompany severe facial trauma.
In developed countries, the leading cause of facial trauma used to be motor vehicle accidents, but this mechanism has been replaced by interpersonal violence; however auto accidents still predominate as the cause in developing countries and are still a major cause elsewhere. Thus prevention efforts include awareness campaigns to educate the public about safety measures such as seat belts and motorcycle helmets, and laws to prevent drunk and unsafe driving. Other causes of facial trauma include falls, industrial accidents, and sports injuries.
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 3.1 Classification
* 4 Prevention
* 5 Treatment
* 6 Prognosis and complications
* 7 Epidemiology
* 8 References
* 8.1 Cited texts
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
Bruising, a common symptom in facial trauma
Fractures of facial bones, like other fractures, may be associated with pain, bruising, and swelling of the surrounding tissues (such symptoms can occur in the absence of fractures as well). Fractures of the nose, base of the skull, or maxilla may be associated with profuse nosebleeds.[1] Nasal fractures may be associated with deformity of the nose, as well as swelling and bruising.[2] Deformity in the face, for example a sunken cheekbone or teeth which do not align properly, suggests the presence of fractures. Asymmetry can suggest facial fractures or damage to nerves.[3] People with mandibular fractures often have pain and difficulty opening their mouths and may have numbness in the lip and chin.[4] With Le Fort fractures, the midface may move relative to the rest of the face or skull.[5]
## Cause[edit]
Injury mechanisms such as falls, assaults, sports injuries, and vehicle crashes are common causes of facial trauma in children[4] as well as adults.[6] Blunt assaults, blows from fists or objects, are a common cause of facial injury.[7][1] Facial trauma can also result from wartime injuries such as gunshots and blasts. Animal attacks and work-related injuries such as industrial accidents are other causes.[8] Vehicular trauma is one of the leading causes of facial injuries. Trauma commonly occurs when the face strikes a part of the vehicle's interior, such as the steering wheel.[9] In addition, airbags can cause corneal abrasions and lacerations (cuts) to the face when they deploy.[9]
## Diagnosis[edit]
Left orbital floor fracture
Radiography, imaging of tissues using X-rays, is used to rule out facial fractures.[2] Angiography (X-rays taken of the inside of blood vessels) can be used to locate the source of bleeding.[10] However the complex bones and tissues of the face can make it difficult to interpret plain radiographs; CT scanning is better for detecting fractures and examining soft tissues, and is often needed to determine whether surgery is necessary, but it is more expensive and difficult to obtain.[4] CT scanning is usually considered to be more definitive and better at detecting facial injuries than X-ray.[3] CT scanning is especially likely to be used in people with multiple injuries who need CT scans to assess for other injuries anyway.[11]
### Classification[edit]
Le Fort I fractures
Le Fort II fractures
Le Fort III fractures
Soft tissue injuries include abrasions, lacerations, avulsions, bruises, burns and cold injuries.[3]
The facial bones
Commonly injured facial bones include the nasal bone (the nose), the maxilla (the bone that forms the upper jaw), and the mandible (the lower jaw). The mandible may be fractured at its symphysis, body, angle, ramus, and condyle.[4] The zygoma (cheekbone) and the frontal bone (forehead) are other sites for fractures.[12] Fractures may also occur in the bones of the palate and those that come together to form the orbit of the eye.
At the beginning of the 20th century, René Le Fort mapped typical locations for facial fractures; these are now known as Le Fort I, II, and III fractures (right).[6] Le Fort I fractures, also called Guérin or horizontal maxillary fractures,[13] involve the maxilla, separating it from the palate.[14] Le Fort II fractures, also called pyramidal fractures of the maxilla,[15] cross the nasal bones and the orbital rim.[14] Le Fort III fractures, also called craniofacial disjunction and transverse facial fractures,[16] cross the front of the maxilla and involve the lacrimal bone, the lamina papyracea, and the orbital floor, and often involve the ethmoid bone,[14] are the most serious.[17] Le Fort fractures, which account for 10–20% of facial fractures, are often associated with other serious injuries.[14] Le Fort made his classifications based on work with cadaver skulls, and the classification system has been criticized as imprecise and simplistic since most midface fractures involve a combination of Le Fort fractures.[14] Although most facial fractures do not follow the patterns described by Le Fort precisely, the system is still used to categorize injuries.[5]
## Prevention[edit]
Measures to reduce facial trauma include laws enforcing seat belt use and public education to increase awareness about the importance of seat belts[7] and motorcycle helmets.[8] Efforts to reduce drunk driving are other preventative measures; changes to laws and their enforcement have been proposed, as well as changes to societal attitudes toward the activity.[7] Information obtained from biomechanics studies can be used to design automobiles with a view toward preventing facial injuries.[6] While seat belts reduce the number and severity of facial injuries that occur in crashes,[7] airbags alone are not very effective at preventing the injuries.[3] In sports, safety devices including helmets have been found to reduce the risk of severe facial injury.[18] Additional attachments such as face guards may be added to sports helmets to prevent orofacial injury (injury to the mouth or face);[18] mouth guards also used.
## Treatment[edit]
An immediate need in treatment is to ensure that the airway is open and not threatened (for example by tissues or foreign objects), because airway compromisation can occur rapidly and insidiously, and is potentially deadly.[19] Material in the mouth that threatens the airway can be removed manually or using a suction tool for that purpose, and supplemental oxygen can be provided.[19] Facial fractures that threaten to interfere with the airway can be reduced by moving the bones back into place; this both reduces bleeding and moves the bone out of the way of the airway. Tracheal intubation (inserting a tube into the airway to assist breathing) may be difficult or impossible due to swelling.[1] Nasal intubation, inserting an endotracheal tube through the nose, may be contraindicated in the presence of facial trauma because if there is an undiscovered fracture at the base of the skull, the tube could be forced through it and into the brain.[1] If facial injuries prevent orotracheal or nasotracheal intubation, a surgical airway can be placed to provide an adequate airway.[1] Although cricothyrotomy and tracheostomy can secure an airway when other methods fail, they are used only as a last resort because of potential complications and the difficulty of the procedures.[4]
Sutures may be used to close wounds.
A dressing can be placed over wounds to keep them clean and to facilitate healing, and antibiotics may be used in cases where infection is likely.[12] People with contaminated wounds who have not been immunized against tetanus within five years may be given a tetanus vaccination.[3] Lacerations may require stitches to stop bleeding and facilitate wound healing with as little scarring as possible.[4] Although it is not common for bleeding from the maxillofacial region to be profuse enough to be life-threatening, it is still necessary to control such bleeding.[20] Severe bleeding occurs as the result of facial trauma in 1–11% of patients, and the origin of this bleeding can be difficult to locate.[10] Nasal packing can be used to control nose bleeds and hematomas that may form on the septum between the nostrils.[2] Such hematomas need to be drained.[2] Mild nasal fractures need nothing more than ice and pain killers, while breaks with severe deformities or associated lacerations may need further treatment, such as moving the bones back into alignment and antibiotic treatment.[2]
Treatment aims to repair the face's natural bony architecture and to leave as little apparent trace of the injury as possible.[1] Fractures may be repaired with metal plates and screws commonly made from Titanium.[1] Resorbable materials are also available; these are biologically degraded and removed over time but there is no evidence supporting their use over conventional Titanium plates.[21] Fractures may also be wired into place. Bone grafting is another option to repair the bone's architecture, to fill out missing sections, and to provide structural support.[1] Medical literature suggests that early repair of facial injuries, within hours or days, results in better outcomes for function and appearance.[11]
Surgical specialists who commonly treat specific aspects of facial trauma are otolaryngologists, plastic surgeons, and oral and maxillofacial surgeons.[4] These surgeons are trained in the comprehensive management of trauma to the lower, middle and upper face and have to take written and oral board examinations covering the management of facial injuries.
## Prognosis and complications[edit]
Diagram of lateral view of face showing the imaginary line between the tragus of the ear and the middle of the upper lip. The middle third of this line is the approximate location of the course of the parotid duct. If facial lacerations cross this line, there is a risk that the parotid duct is damaged.
By itself, facial trauma rarely presents a threat to life; however it is often associated with dangerous injuries, and life-threatening complications such as blockage of the airway may occur.[4] The airway can be blocked due to bleeding, swelling of surrounding tissues, or damage to structures.[22] Burns to the face can cause swelling of tissues and thereby lead to airway blockage.[22] Broken bones such as combinations of nasal, maxillary, and mandibular fractures can interfere with the airway.[1] Blood from the face or mouth, if swallowed, can cause vomiting, which can itself present a threat to the airway because it has the potential to be aspirated.[23] Since airway problems can occur late after the initial injury, it is necessary for healthcare providers to monitor the airway regularly.[23]
Even when facial injuries are not life-threatening, they have the potential to cause disfigurement and disability, with long-term physical and emotional results.[6] Facial injuries can cause problems with eye, nose, or jaw function[1] and can threaten eyesight.[11] As early as 400 BC, Hippocrates is thought to have recorded a relationship between blunt facial trauma and blindness.[11] Injuries involving the eye or eyelid, such as retrobulbar hemorrhage, can threaten eyesight; however, blindness following facial trauma is not common.[24]
Incising wounds of the face may involve the parotid duct. This is more likely if the wound crosses a line drawn between the tragus of the ear to the upper lip. The approximate location of the course of the duct is the middle third of this line.[25]
Nerves and muscles may be trapped by broken bones; in these cases the bones need to be put back into their proper places quickly.[4] For example, fractures of the orbital floor or medial orbital wall of the eye can entrap the medial rectus or inferior rectus muscles.[26] In facial wounds, tear ducts and nerves of the face may be damaged.[3] Fractures of the frontal bone can interfere with the drainage of the frontal sinus and can cause sinusitis.[27]
Infection is another potential complication, for example when debris is ground into an abrasion and remains there.[4] Injuries resulting from bites carry a high infection risk.[3]
## Epidemiology[edit]
As many as 50–70% of people who survive traffic accidents have facial trauma.[3] In most developed countries, violence from other people has replaced vehicle collisions as the main cause of maxillofacial trauma; however in many developing countries traffic accidents remain the major cause.[8] Increased use of seat belts and airbags has been credited with a reduction in the incidence of maxillofacial trauma, but fractures of the mandible (the jawbone) are not decreased by these protective measures.[9] The risk of maxillofacial trauma is decreased by a factor of two with use of motorcycle helmets.[9] A decline in facial bone fractures due to vehicle accidents is thought to be due to seat belt and drunk driving laws, strictly enforced speed limits and use of airbags.[7] In vehicle accidents, drivers and front seat passengers are at highest risk for facial trauma.[9]
Facial fractures are distributed in a fairly normal curve by age, with a peak incidence occurring between ages 20 and 40, and children under 12 suffering only 5–10% of all facial fractures.[28] Most facial trauma in children involves lacerations and soft tissue injuries.[4] There are several reasons for the lower incidence of facial fractures in children: the face is smaller in relation to the rest of the head, children are less often in some situations associated with facial fractures such as occupational and motor vehicle hazards, there is a lower proportion of cortical bone to cancellous bone in children's faces, poorly developed sinuses make the bones stronger, and fat pads provide protection for the facial bones.[4]
Head and brain injuries are commonly associated with facial trauma, particularly that of the upper face; brain injury occurs in 15–48% of people with maxillofacial trauma.[29] Coexisting injuries can affect treatment of facial trauma; for example they may be emergent and need to be treated before facial injuries.[11] People with trauma above the level of the collar bones are considered to be at high risk for cervical spine injuries (spinal injuries in the neck) and special precautions must be taken to avoid movement of the spine, which could worsen a spinal injury.[23]
## References[edit]
1. ^ a b c d e f g h i j Seyfer AE, Hansen JE (2003). pp. 423–24.
2. ^ a b c d e Munter DW, McGurk TD (2002). "Head and facial trauma". In Knoop KJ, Stack LB, Storrow AB (eds.). Atlas of emergency medicine. New York: McGraw-Hill, Medical Publishing Division. pp. 9–10. ISBN 0-07-135294-5.
3. ^ a b c d e f g h Jordan JR, Calhoun KH (2006). "Management of soft tissue trauma and auricular trauma". In Bailey BJ, Johnson JT, Newlands SD, et al. (eds.). Head & Neck Surgery: Otolaryngology. Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 935–36. ISBN 0-7817-5561-1. Archived from the original on 2017-02-02. Retrieved 2008-10-19.
4. ^ a b c d e f g h i j k l Neuman MI, Eriksson E (2006). pp. 1475–77.
5. ^ a b Kellman RM. Commentary on Seyfer AE, Hansen JE (2003). p. 442.
6. ^ a b c d Allsop D, Kennett K (2002). "Skull and facial bone trauma". In Nahum AM, Melvin J (eds.). Accidental injury: Biomechanics and prevention. Berlin: Springer. pp. 254–258. ISBN 0-387-98820-3. Archived from the original on 2017-11-06. Retrieved 2008-10-08.
7. ^ a b c d e Shapiro AJ, Johnson RM, Miller SF, McCarthy MC (June 2001). "Facial fractures in a level I trauma centre: the importance of protective devices and alcohol abuse". Injury. 32 (5): 353–56. doi:10.1016/S0020-1383(00)00245-X. PMID 11382418.
8. ^ a b c Adeyemo WL, Ladeinde AL, Ogunlewe MO, James O (October 2005). "Trends and characteristics of oral and maxillofacial injuries in Nigeria: A review of the literature". Head & Face Medicine. 1 (1): 7. doi:10.1186/1746-160X-1-7. PMC 1277015. PMID 16270942.
9. ^ a b c d e Hunt JP, Weintraub SL, Wang YZ, Buechter KJ (2003). "Kinematics of trauma". In Moore EE, Feliciano DV, Mattox KL (eds.). Trauma. Fifth Edition. McGraw-Hill Professional. p. 149. ISBN 0-07-137069-2.
10. ^ a b Jeroukhimov I, Cockburn M, Cohn S (2004). pp.10–11.
11. ^ a b c d e Perry M (March 2008). "Advanced Trauma Life Support (ATLS) and facial trauma: can one size fit all? Part 1: dilemmas in the management of the multiply injured patient with coexisting facial injuries". International Journal of Oral and Maxillofacial Surgery. 37 (3): 209–14. doi:10.1016/j.ijom.2007.11.003. PMID 18178381.
12. ^ a b Neuman MI, Eriksson E (2006). pp. 1480–81.
13. ^ "Le Fort I fracture" at Dorland's Medical Dictionary.
14. ^ a b c d e Shah AR, Valvassori GE, Roure RM (2006). "Le Fort Fractures". EMedicine. Archived from the original on 2008-10-20.
15. ^ "Le Fort II fracture" at Dorland's Medical Dictionary.
16. ^ "Le Fort III fracture" at Dorland's Medical Dictionary.
17. ^ "Le Fort fracture" at Dorland's Medical Dictionary.
18. ^ a b McIntosh AS, McCrory P (June 2005). "Preventing head and neck injury". British Journal of Sports Medicine (Free Registration Required). 39 (6): 314–18. doi:10.1136/bjsm.2005.018200. PMC 1725244. PMID 15911597. Archived from the original on 2007-10-09.
19. ^ a b Jeroukhimov I, Cockburn M, Cohn S (2004). pp.2–3.
20. ^ Perry M, O'Hare J, Porter G (May 2008). "Advanced Trauma Life Support (ATLS) and facial trauma: Can one size fit all? Part 3: Hypovolaemia and facial injuries in the multiply injured patient". International Journal of Oral and Maxillofacial Surgery. 37 (5): 405–14. doi:10.1016/j.ijom.2007.11.005. PMID 18262768.
21. ^ Dorri, Mojtaba; Nasser, Mona; Oliver, Richard (2009-01-21). "Resorbable versus titanium plates for facial fractures". The Cochrane Database of Systematic Reviews (1): CD007158. doi:10.1002/14651858.CD007158.pub2. ISSN 1469-493X. PMID 19160326. (Retracted, see doi:10.1002/14651858.cd007158.pub3. If this is an intentional citation to a retracted paper, please replace `{{Retracted}}` with `{{Retracted|intentional=yes}}`.)
22. ^ a b Parks SN (2003). "Initial assessment". In Moore EE, Feliciano DV, Mattox KL (eds.). Trauma. Fifth Edition. McGraw-Hill Professional. p. 162. ISBN 0-07-137069-2.
23. ^ a b c Perry M, Morris C (April 2008). "Advanced trauma life support (ATLS) and facial trauma: Can one size fit all? Part 2: ATLS, maxillofacial injuries and airway management dilemmas". International Journal of Oral and Maxillofacial Surgery. 37 (4): 309–20. doi:10.1016/j.ijom.2007.11.002. PMID 18207702.
24. ^ Perry M, Dancey A, Mireskandari K, Oakley P, Davies S, Cameron M (August 2005). "Emergency care in facial trauma—A maxillofacial and ophthalmic perspective". Injury. 36 (8): 875–96. doi:10.1016/j.injury.2004.09.018. PMID 16023907.
25. ^ Remick, KN; Jackson, TS (July 2010). "Trauma evaluation of the parotid duct in an austere military environment" (PDF). Military Medicine. 175 (7): 539–40. doi:10.7205/milmed-d-09-00128. PMID 20684461. Archived (PDF) from the original on 2016-03-04.
26. ^ Seyfer AE, Hansen JE (2003). p. 434.
27. ^ Seyfer AE, Hansen JE (2003). p. 437.
28. ^ Neuman MI, Eriksson E (2006). p. 1475. "The age distribution of facial fractures follows a relatively normal curve, with a peak incidence between 20 and 40 years of age."
29. ^ Jeroukhimov I, Cockburn M, Cohn S (2004). p. 11. "The incidence of brain injury in patients with maxillofacial trauma varies from 15 to 48%. The risk of serious brain injury is particularly high with upper facial injury."
### Cited texts[edit]
* Jeroukhimov I, Cockburn M, Cohn S (2004). "Facial trauma: Overview of trauma care". In Thaller SR (ed.). Facial trauma. New York, N.Y: Marcel Dekker. ISBN 0-8247-4625-2. Retrieved 2008-10-19.
* Neuman MI, Eriksson E (2006). "Facial trauma". In Fleisher GR, Ludwig S, Henretig FM (eds.). Textbook of Pediatric Emergency Medicine. Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-5074-1. Retrieved 2008-10-19.
* Seyfer AE, Hansen JE (2003). "Facial trauma". In Moore EE, Feliciano DV, Mattox KL (eds.). Trauma. Fifth Edition. McGraw-Hill Professional. pp. 423–24. ISBN 0-07-137069-2.
## Further reading[edit]
* The Gillies Archives at Queen Mary's Hospital, Sidcup \- Documents and images from the early days of reconstructive surgery for severe facial trauma experienced by soldiers in World War I.
## External links[edit]
Classification
D
* ICD-10: S00 S02.2–S02.9
* ICD-9-CM: 802 804 910 920 925 941
* MeSH: D005151
External resources
* MedlinePlus: 001062
* eMedicine: plastic/227 plastic/482 plastic/481
* 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
Trauma
Principles
* Polytrauma
* Major trauma
* Traumatology
* Triage
* Resuscitation
* Trauma triad of death
Assessment
Clinical prediction rules
* Revised Trauma Score
* Injury Severity Score
* Abbreviated Injury Scale
* NACA score
Investigations
* Diagnostic peritoneal lavage
* Focused assessment with sonography for trauma
Management
Principles
* Advanced trauma life support
* Trauma surgery
* Trauma center
* Trauma team
* Damage control surgery
* Early appropriate care
Procedures
* Resuscitative thoracotomy
Pathophysiology
Injury
* MSK
* Bone fracture
* Joint dislocation
* Degloving
* Soft tissue injury
* Resp
* Flail chest
* Pneumothorax
* Hemothorax
* Diaphragmatic rupture
* Pulmonary contusion
* Cardio
* Internal bleeding
* Thoracic aorta injury
* Cardiac tamponade
* GI
* Blunt kidney trauma
* Ruptured spleen
* Neuro
* Penetrating head injury
* Traumatic brain injury
* Intracranial hemorrhage
Mechanism
* Blast injury
* Blunt trauma
* Burn
* Penetrating trauma
* Crush injury
* Stab wound
* Ballistic trauma
* Electrocution
Region
* Abdominal trauma
* Chest trauma
* Facial trauma
* Head injury
* Spinal cord injury
Demographic
* Geriatric trauma
* Pediatric trauma
Complications
* Posttraumatic stress disorder
* Wound healing
* Acute lung injury
* Crush syndrome
* Rhabdomyolysis
* Compartment syndrome
* Contracture
* Volkmann's contracture
* Embolism
* air
* fat
* Chronic traumatic encephalopathy
* Subcutaneous emphysema
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
Facial trauma
|
c0015459
| 8,653 |
wikipedia
|
https://en.wikipedia.org/wiki/Facial_trauma
| 2021-01-18T19:05:40 |
{"mesh": ["D005151"], "icd-9": ["925", "804", "920", "802", "910", "941"], "icd-10": ["S02.9", "S02.2", "S00"], "wikidata": ["Q3632931"]}
|
Barbosa Sueiro and Piloto (1964) reported 5 cases occurring in 4 generations of a family.
GU \- Labia minora incomplete adhesion Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
|
LABIA MINORA, INCOMPLETE ADHESION OF
|
c1835613
| 8,654 |
omim
|
https://www.omim.org/entry/149600
| 2019-09-22T16:39:06 |
{"omim": ["149600"]}
|
Type of kidney disease, urea in the blood
Uremia
Other namesUraemia
Uremic frost present on the forehead and scalp of a young man who presented with complaints of anorexia and fatigue, with blood urea nitrogen and serum creatinine levels of approximately 100 and 50 mg/dL respectively.
SpecialtyNephrology
Uremia is the condition of having high levels of urea in the blood. Urea is one of the primary components of urine. It can be defined as an excess of amino acid and protein metabolism end products, such as urea and creatinine, in the blood that would be normally excreted in the urine. Uremic syndrome can be defined as the terminal clinical manifestation of kidney failure (also called renal failure).[1] It is the signs, symptoms and results from laboratory tests which result from inadequate excretory, regulatory, and endocrine function of the kidneys.[2] Both uremia and uremic syndrome have been used interchangeably to denote a very high plasma urea concentration that is the result of renal failure.[1] The former denotation will be used for the rest of the article.
Azotemia is a similar, less severe condition with high levels of urea, where the abnormality can be measured chemically but is not yet so severe as to produce symptoms. Uremia describes the pathological and symptomatic manifestations of severe azotemia.[1]
There is no specific time for the onset of uremia for people with progressive loss of kidney function. People with kidney function below 50% (i.e. a glomerular filtration rate [GFR] between 50 and 60 mL/min) and over 30 years of age may have uremia to a degree. This means an estimated 8 million people in the United States with a GFR of less than 60 mL/min have uremic symptoms.[3] The symptoms, such as fatigue, can be very vague, making the diagnosis of impaired kidney function difficult. Treatment can be by dialysis or a kidney transplant, though some patients choose to pursue symptom control and conservative care instead.[3]
## Contents
* 1 Signs and symptoms
* 1.1 Residual syndrome
* 2 Causes
* 3 Diagnosis
* 3.1 Blood tests
* 3.2 Urine tests
* 3.3 Radioisotope tests
* 3.4 Other
* 4 Mechanism
* 4.1 Uremic toxins
* 4.2 Biochemical characteristics
* 5 History
* 6 Oral manifestations
* 7 Dental considerations
* 8 Notes
* 9 References
* 10 External links
## Signs and symptoms[edit]
Classical signs of uremia are: progressive weakness and easy fatigue, loss of appetite due to nausea and vomiting, muscle atrophy, tremors, abnormal mental function, frequent shallow respiration, and metabolic acidosis. Without intervention via dialysis or kidney transplant, uremia due to renal failure will progress and cause stupor, coma, and death.[2] Because uremia is mostly a consequence of kidney failure, its signs and symptoms often occur concomitantly with other signs and symptoms of kidney failure.
Clinical features of uremia[3][4][5] Area affected Signs and symptoms
Central nervous system diurnal somnolence, night insomnia, memory and concentration disorders, asthenia, headache, confusion, fatigue, seizures, coma, encephalopathy, decreased taste and smell, hiccups, serositis
Peripheral nervous system polyneuritis, restless legs, cramps, peripheral neuropathy, oxidative stress, reduced body temperature
Gastrointestinal anorexia, nausea, vomiting, gastroparesis, parotitis, stomatitis, superficial gastrointestinal ulcers
Hematologic anemia, hemostasis disorders, granulocytic, lymphocytic and platelet dysfunction
Cardiovascular hypertension, atherosclerosis, coronary artery disease, pericarditis, peripheral and pulmonary edema
Skin itching, skin dryness, calciphylaxis, uremic frost (excretion of urea through the skin)
Endocrinology growth impairment, impotence, infertility, sterility, amenorrhea
Skeletal osteomalacia, β2-microglobulin amyloidosis, bone disease (via vitamin D deficiency, secondary hyperparathyroidism and hyperphosphatemia)
Nutrition malnutrition, weight loss, muscular catabolism
Other uremic fetor
immunity low response rate to vaccination, increased sensitivity to infectious diseases, systemic inflammation
Glomerular filtration rate (GFR) measures the amount of plasma in millilitres being filtered through the kidneys each minute. As the GFR decreases, the prognosis worsens. Some of the effects can be reversed, albeit temporarily, with dialysis.
GFR and their effects[3] GFR (mL/min) Effects
100–120 Normal GFR
<60 Uremic symptoms may be present, reduced well-being
30–60 Cognitive impairment
55 Fatigue and reduced stamina
<50 Insulin resistance
<30 Increasing likelihood of symptoms
≤15 Kidney failure
### Residual syndrome[edit]
People on dialysis acquire what is known as "residual syndrome".[5] Residual syndrome is a non-life-threatening disease which is displayed as toxic effects causing many of the same signs and symptoms that uremia displays. There are several hypotheses why residual syndrome is present. They are: the accumulation of large molecular weight solutes that are poorly dialyzed (e.g. β2-microglobulin); the accumulation of protein-bound small molecular weight solutes that are poorly dialyzed (e.g. p-cresyl sulfate and indoxyl sulfate); the accumulation of dialyzable solutes that are incompletely removed (e.g. sequestered solutes like phosphate in cells or insufficient elimination of other more toxic solutes); indirect phenomena such as carbamylation of proteins, tissue calcification, or a toxic effect of hormone imbalance (e.g. parathyroid hormone) and; the toxic effects of dialysis itself (e.g. removal of unknown important vitamins or minerals).[5][6] Dialysis increases life span but patients may have more limited function. They suffer physical limitations which include impairment of balance, walking speed, and sensory functions. They also suffer cognitive impairments such as impairment in attention, memory, and performance of higher-order tasks.[3] Patients have been maintained longer than three decades on dialysis, but average mortality rates and hospitalizations are high. Also, patient rehabilitation and quality of life is poor.[3][5]
## Causes[edit]
Urea
Conditions causing increased blood urea fall into three different categories: prerenal, renal, and postrenal.
Prerenal azotemia can be caused by decreased blood flow through the kidneys (e.g. low blood pressure, congestive heart failure, shock, bleeding, dehydration) or by increased production of urea in the liver via a high protein diet or increased protein catabolism (e.g. stress, fever, major illness, corticosteroid therapy, or gastrointestinal bleeding).[1]
Renal causes can be attributed to decreased kidney function. These include acute and chronic kidney failure, acute and chronic glomerulonephritis, tubular necrosis, and other kidney diseases.[1]
Postrenal causes can be due to decreased elimination of urea. These could be due to urinary outflow obstruction such as by calculi, tumours of the bladder or prostate, or a severe infection.[1]
## Diagnosis[edit]
A detailed and accurate history and physical examination will help determine if uremia is acute or chronic. In the cases of acute uremia, causes may be identified and eliminated, leading to a higher chance for recovery of normal kidney function, if treated correctly.[7]
### Blood tests[edit]
Primary tests performed for the diagnosis of uremia are basic metabolic panel with serum calcium and phosphorus to evaluate the GFR, blood urea nitrogen and creatinine as well as serum potassium, phosphate, calcium and sodium levels. Principal abnormality is very low GFR (<30 mL/min). Uremia will demonstrate elevation of both urea and creatinine, likely elevated potassium, high phosphate and normal or slightly high sodium, as well as likely depressed calcium levels. As a basic work up a physician will also evaluate for anemia, and thyroid and parathyroid functions. Chronic anemia may be an ominous sign of established renal failure. The thyroid and parathyroid panels will help work up any symptoms of fatigue, as well as determine calcium abnormalities as they relate to uremia versus longstanding or unrelated illness of calcium metabolism.
### Urine tests[edit]
A 24-hour urine collection for determination of creatinine clearance may be an alternative, although not a very accurate test due to the collection procedure. Another laboratory test that should be considered is urinalysis with microscopic examination for the presence of protein, casts, blood and pH.[7]
### Radioisotope tests[edit]
The most trusted test for determining GFR is iothalamate clearance. However, it may be cost-prohibitive and time-consuming. Clinical laboratories generally calculate the GFR with the modification of diet in renal disease (MDRD) formula or the Cockcroft-Gault formula.[7]
### Other[edit]
In addition, coagulation studies may indicate prolonged bleeding time with otherwise normal values.
## Mechanism[edit]
Uremia results in many different compounds being retained by the body. With the failure of the kidneys, these compounds can build up to dangerous levels. There are more than 90 different compounds that have been identified. Some of these compounds can be toxic to the body.
Uremic solutes[3] Solute group Example Source[note 1] Characteristics
Peptides and small proteins β2-microglobulin shed from major histocompatibility complex poorly dialyzed because of large size
Guanidines guanidinosuccinic acid arginine increased production in uremia
Phenols ρ-cresyl sulfate phenylalanine, tyrosine protein bound, produced by gut bacteria
Indoles indican tryptophan protein bound, produced by gut bacteria
Aliphatic amines dimethylamine choline large volume of distribution, produced by gut bacteria
Polyols CMPF unknown tightly protein bound
Ucleosides pseudouridine tRNA most prominent of several altered RNA species
Dicarboxylic acids oxalate ascorbic acid formation of crystal deposits
Carbonyls glyoxal glycolytic intermediates reaction with proteins to form advanced glycation end-products
### Uremic toxins[edit]
Uremic toxins are any biologically active compounds that are retained due to kidney impairment.[4] Many uremic salts can also be uremic toxins.
Urea was one of the first metabolites identified. Its removal is directly related to patient survival but its effect on the body is not yet clear. Still, it is not certain that the symptoms currently associated with uremia are actually caused by excess urea, as one study showed that uremic symptoms were relieved by initiation of dialysis, even when urea was added to the dialysate to maintain the blood urea nitrogen level at approximately 90 mg per deciliter (that is, approximately 32 mmol per liter).[3] Urea could be the precursor of more toxic molecules but it is more likely that damage done to the body is from a combination of different compounds which may act as enzyme inhibitors or derange membrane transport.[2] Indoxyl sulfate is one of the better characterized uremic toxins. Indoxyl sulfate has been shown to aggravate vascular inflammation in atherosclerosis by modulating macrophage behavior.[8][9]
Potential uremic toxins Toxin Effect References
Urea At high concentrations [>300 mg/dL(>50 mmol/L)]: headaches, vomiting, fatigue, carbamylation of proteins [2]
Creatinine Possibly affects glucose tolerance and erythrocyte survival [2]
Cyanate Drowsiness and hyperglycemia, carbamylation of proteins and altered protein function due to being a breakdown product of urea [2]
Polyols (e.g., myoinositol) Peripheral neuropathy [2]
Phenols Can be highly toxic as they are lipid-soluble and therefore can cross cell membranes easily [2]
"Middle molecules"[note 2] Peritoneal dialysis patients clear middle molecules more efficiently than hemodialysis patients. They show fewer signs of neuropathy than hemodialysis patients [2]
β2-Microglobulin Renal amyloid [2]
Indoxyl sulfate Induces renal dysfunction and cardiovascular dysfunction; associated with chronic kidney disease and cardiovascular disease [8] [9] [10]
ρ-cresyl sulfate Accumulates in and predicts chronic kidney disease [10]
### Biochemical characteristics[edit]
Many regulatory functions of the body are affected. Regulation of body fluids, salt retention, acid and nitrogenous metabolite excretion are all impaired and can fluctuate widely. Body fluid regulation is impaired due to a failure to excrete fluids, or due to fluid loss from vomiting or diarrhea. Regulation of salt is impaired when salt intake is low or the vascular volume is inadequate. Acid excretion and nitrogenous metabolite excretion are impaired with the loss of kidney function.[2]
Biochemistry[2][3][5] Retained nitrogenous metabolites Fluid, acid-base, and electrolyte disturbances Carbohydrate intolerance Anormal lipid metabolism Altered endocrine function
Urea Fixed urine osmolality Insulin resistance (hypoglycemia may also occur) Hypertriglyceridemia Secondary hyperparathyroidism
Cyanate Metabolic acidosis Plasma insulin normal or increased Decreased high-density lipoprotein cholesterol Altered thyroxine metabolism
Creatinine Hyponatremia or hypernatremia or hypercalcemia Delayed response to carbohydrate loading Hyperlipoproteinemia Hyperreninemia and hyperaldosteronism
Guanidine compounds Hyperchloremia Hyperglucagonemia Hyporeninemia
"Middle molecules"[note 2] Hypocalcemia Hypoaldosteronism
Uric acid Hyperphosphatemia Decreased erythropoietin production
Hypermagnesemia Gonadal dysfunction (increased prolactin and luteinizing hormone, decreased testosterone)
Decreased sodium-potassium ATPase activity Increased serum gastrin and melanocyte-stimulating hormone
## History[edit]
Urea was crystallized and identified between 1797 and 1808.[11] Urea was hypothesized to be the source of urinary ammonia during this time and was confirmed in 1817. It was hypothesized that excess urea may lead to specific disorders. Later in 1821, it was confirmed that the body did produce urea and that it was excreted by the kidneys.[11] In 1827, urea was first synthesized in the lab, confirming the composition of urea and making it the first biological substance synthesized. In 1856, urea was produced in vitro via oxidation of proteins. It was in 1850 that Thomas Dutrochet seeded the idea of dialysis with the discovery of separating smaller molecules from larger molecules through a semipermeable membrane.[11] It was in 1829 and 1831 when convincing proof was obtained that in certain patients, blood urea was elevated. They also suggested that harm may be caused by this. Later research suggested that major neurological disorders like coma and convulsions did not correlate with physical findings which included generalized edema of the brain. This suggested that uremia was a form of blood poisoning.[11] In 1851, E.T. Frerich described clinical uremic syndrome and suggested that a toxicity was the mechanism of its cause. It was in 1856 that J. Picard developed a sensitive method to reproducibly measure blood urea. He was able to detect a 40% decrease of urea concentration between the renal artery and the renal vein. This work solidified the fact that renal failure coincided with an increase in blood urea. It was J. Picard with E.T. Frerich's work that made the term uremia popular.[11]
## Oral manifestations[edit]
Oral symptoms of uremia can be found in up to 90% of renal patients. The patients may present with ammonia-like taste and smell in mouth, stomatitis, gingivitis, decreased salivary flow, xerostomia and parotitis.[12]
One of the early symptoms of renal failure is uremic fetor. It is an ammonia odour in the mouth caused by the high concentration of urea in the saliva which subsequently breaks down to ammonia.[12] As the blood urea nitrogen (BUN) level increases, patient might develop uremic stomatitis. Uremic stomatitis appears as a pseudo membrane or the frank ulcerations with redness and a pultaceous coat in the mouth. These lesions could be related to high BUN level >150 mg/dl and disappear spontaneously when the BUN level is reduced with medical treatment. It is believed to be caused by loss of tissue resistance and failure to withstand traumatic influences.[12] Besides that, the patient may develop a rare manifestation which is uremic frost. It is a white plaque found on the skin or in the mouth, it is caused by residual urea crystals left on the epithelial surface after perspiration and saliva evaporation or as a result of reduced salivary flow.[12] Xerostomia is a common oral finding, it results from a combination of direct involvement of salivary glands, chemical inflammation, dehydration and mouth breathing.[12] It may be due to restricted fluid intake, adverse effect of drug therapy or low salivary rate.[13] Salivary swelling can be seen sometimes.[12]
In patients with renal disease, pallor of the oral mucosa can sometimes be noticed due to anaemia caused by reduction of erythropoietin. Uraemia can lead to alteration of platelet aggregation. This situation, combined with the use of heparin and other anticoagulants in haemodialysis, causes the patients to become predisposed to ecchymosis, petechiae, and haemorrhages in the oral cavity.[13] It can also lead to mucositis and glossitis which can bring about pain and inflammation of the tongue and oral mucosa. In addition, patients might also experience altered taste sensations, dysgeusia, and be predisposed to bacterial and candidiasis infections. Candidiasis is more frequent in renal transplant patients because of generalized immunosuppression.[13]
In children with renal disease, enamel hypoplasia of the primary and permanent dentition has been observed. The abnormalities of dental development correlate with the age at which metabolic disturbances occur. For example, enamel hypoplasia in the form of white or brown discoloration of primary teeth is commonly seen in young children with early-onset renal disease.[13] Poor oral hygiene, a carbohydrate-rich diet, disease-related debilitation, hypoplastic enamel, low salivary flow rate and long-term medication contribute to increased risk of caries formation.[13] However, the patients usually have low caries activity, particularly in children.[12] This is due to the presence of highly buffered and alkaline saliva caused by the high concentration of urea nitrogen and phosphate in saliva. The salivary pH will usually be above the critical pH level for demineralization of the enamel to occur and this helps to prevent the formation of caries.[13] Besides that, pulpal narrowing and calcifications is a frequent finding in patients with renal disease.[13] For patients who are on dialysis, the nausea and vomiting resulting from dialysis treatment may lead to severe tooth erosion.[12]
## Dental considerations[edit]
When treating patients with renal insufficiency, a dentist should collect a complete medical history, with particular attention to ESRD-related illnesses, drugs with prescribed dosages, blood parameters, timing, and type of dialysis performed.[14] These aspects can be directly discussed with the nephrologist when necessary. Any alterations in drugs or other aspects of treatment must be previously agreed upon by the nephrologist.[15]
Dental examination for such patients consists of a non-invasive complete assessment of dental, periodontal, and mucosal tissues, with radiographs to aid with the diagnostic process. All potential foci of infection should be intercepted; these include periodontal and endodontic lesions, residual roots, partially erupted and malpositioned third molars, peri-implantitis, and mucosal lesions. When periodontitis is suspected, a periodontal chart should be recorded. Orthodontic appliances can be maintained if they do not interfere with oral hygiene.[14]
Uremia is commonly seen in patients who undergo dialysis due to renal insufficiency. For hemodialysis patients, it is important to determine the treatment schedule. Dental treatment should be started on the day after hemodialysis due to several reasons: there is no accumulation of uremic toxins in the blood, and circulating heparin is absent. Treatment should not commence on the same day as hemodialysis as patients usually feel unwell and their blood is heparinized, which might cause excessive bleeding. For patients undergoing peritoneal dialysis, there are no contraindications to dental treatment except in cases of acute peritoneal infections, where elective procedure should be deferred.[12][15]
Special care should be taken when positioning the patient, avoiding compression of the arm with the vascular access for hemodialysis. Any injections or blood pressure measurement should not be performed on an arm with an arteriovenous (AV) fistula. If the AV site is located on a leg, the patient should avoid sitting for lengthy periods, as venous drainage may be obstructed. During long dental procedures, the dentist should allow patients with AV sites on their legs to take a brief walk or stand for a while every hour.
Hemostatic aids should be instituted in cases of excessive bleeding, which is commonly seen in uremia and renal failure. To manage postoperative bleeding, primary closure techniques and local hemostatic agents should be used routinely. To reduce bleeding during and after a procedure, tranexamic acid, both as a rinse or administered orally, can be used.[12][15]
Patients undergoing dialysis are exposed to numerous transfusions and renal failure-related immunosuppression; thus, they are at greater risks of infection by human immunodeficiency virus (HIV) and hepatitis types B and C. It is important to adopt infection control measures to avoid cross-contamination in the dental clinic and prevent risk of exposure to dental personnel.[15]
A majority of medications are eliminated from the body at least partially by the kidney. Due to renal failure, the plasma half-lives of drugs normally excreted in urine will be prolonged, leading to increased toxicity. Many drugs which are normally safely administered cannot be given to patients with reduced renal function. Besides, some drugs can be given, but the dosage must be reduced. However, in patients undergoing dialysis, reduced plasma half-lives of drugs will be observed.[12] Antibiotics of the aminoglycoside and tetracycline families need to be avoided due to their nephrotoxicities. The antibiotics of choice are penicillins, clindamycin, and cephalosporins, which can be administered at normal doses even if the therapeutic range will be extended.[15] For analgesics, paracetamol is the option of choice for cases of episodic pain. Aspirin is characterized by an anti-platelet activity and thus its use should be avoided in uremic patients.[15] The challenge in pharmacotherapy for patients with renal disease is to maintain a medication's therapeutic level within a narrow range in order to avoid subtherapeutic dosing and toxicity.[12]
## Notes[edit]
1. ^ There may be multiple sources. Only one is listed.
2. ^ a b The "middle molecules" include: atrial natriuretic peptide, cystatin C, delta sleep-inducing peptide, interleukin-6, tumor necrosis factor alpha, and parathyroid hormone.
## References[edit]
1. ^ a b c d e f Bishop, M.L.; Fody, E.P.; Schoeff, L.E. (2010). Clinical Chemistry: Techniques, Principles, Correlations (6th ed.). Lippincott Williams and Wilkins. p. 268.
2. ^ a b c d e f g h i j k l Burtis, C.A.; Ashwood, E.R.; Bruns, D.E. Tietz (2006). Textbook of Clinical Chemistry and Molecular Diagnostics (5th ed.). Elsevier Saunders. p. 1554.
3. ^ a b c d e f g h i Meyer TW; Hostetter, TH (2007). "Uremia". N Engl J Med. 357 (13): 1316–25. doi:10.1056/NEJMra071313. PMID 17898101.
4. ^ a b Almeras, C.; Argiles, A. (2009). "The General Picture of Uremia". Semin. Dial. 22 (44): 321–322. doi:10.1111/j.1525-139X.2009.00575.x. PMID 19708976.
5. ^ a b c d e Depner, T.A. (2001). "Uremic Toxicity: Urea and Beyond". Semin. Dial. 14 (4): 246–251. doi:10.1046/j.1525-139X.2001.00072.x. PMID 11489197.
6. ^ Dobre, M.; Meyer, T.W.; Hostetter, T.H. (2012). "Searching for Uremic Toxins". Clin J Am Soc Nephrol. 8 (2): 1–6. doi:10.2215/CJN.04260412. PMC 3562857. PMID 23024165.
7. ^ a b c "Uremia Workup". A Brent Alper Jr. Medscape
8. ^ a b Nakano, T; Katsuki, S; Chen, M; Decano, JL; Halu, A; Lee, LH; Pestana, DVS; Kum, AST; Kuromoto, RK; Golden, WS; Boff, MS; Guimaraes, GC; Higashi, H; Kauffman, KJ; Maejima, T; Suzuki, T; Iwata, H; Barabási, AL; Aster, JC; Anderson, DG; Sharma, A; Singh, SA; Aikawa, E; Aikawa, M (2 January 2019). "Uremic Toxin Indoxyl Sulfate Promotes Proinflammatory Macrophage Activation Via the Interplay of OATP2B1 and Dll4-Notch Signaling". Circulation. 139 (1): 78–96. doi:10.1161/CIRCULATIONAHA.118.034588. PMC 6311723. PMID 30586693.
9. ^ a b Hoyer, FF; Nahrendorf, M (2 January 2019). "Uremic Toxins Activate Macrophages". Circulation. 139 (1): 97–100. doi:10.1161/CIRCULATIONAHA.118.037308. PMC 6394415. PMID 30592654.
10. ^ a b Zhang LS, Davies SS (April 2016). "Microbial metabolism of dietary components to bioactive metabolites: opportunities for new therapeutic interventions". Genome Med. 8 (1): 46. doi:10.1186/s13073-016-0296-x. PMC 4840492. PMID 27102537.
Table 2: Microbial metabolites: their synthesis, mechanisms of action, and effects on health and disease
Figure 1: Molecular mechanisms of action of indole and its metabolites on host physiology and disease
11. ^ a b c d e Richet, Gabriel (1988). "Early history of Uremia". Kidney International. 33 (5): 1013–1015. doi:10.1038/ki.1988.102. PMID 3292814.
12. ^ a b c d e f g h i j k l Burket's oral medicine. Glick, Michael (12th ed.). Shelton, Connecticut. ISBN 978-1-60795-280-0. OCLC 903962852.CS1 maint: others (link)
13. ^ a b c d e f g Gupta, Megha; Gupta, Mridul; Abhishek (July 2015). "Oral conditions in renal disorders and treatment considerations – A review for pediatric dentist". The Saudi Dental Journal. 27 (3): 113–119. doi:10.1016/j.sdentj.2014.11.014. ISSN 1013-9052. PMC 4501439. PMID 26236123.
14. ^ a b Costantinides, Fulvia; Castronovo, Gaetano; Vettori, Erica; Frattini, Costanza; Artero, Mary Louise; Bevilacqua, Lorenzo; Berton, Federico; Nicolin, Vanessa; Di Lenarda, Roberto (2018-11-13). "Dental Care for Patients with End-Stage Renal Disease and Undergoing Hemodialysis". International Journal of Dentistry. 2018: 9610892. doi:10.1155/2018/9610892. ISSN 1687-8728. PMC 6258100. PMID 30538746.
15. ^ a b c d e f Dioguardi, Mario; Caloro, Giorgia Apollonia; Troiano, Giuseppe; Giannatempo, Giovanni; Laino, Luigi; Petruzzi, Massimo; Lo Muzio, Lorenzo (2016-01-02). "Oral manifestations in chronic uremia patients". Renal Failure. 38 (1): 1–6. doi:10.3109/0886022X.2015.1103639. ISSN 0886-022X. PMID 26513593.
## External links[edit]
* Uremia, WebMD.com
* Understanding Uremia, uspharmacist.com
Classification
D
* ICD-10: N19, R39.2
* ICD-9-CM: 585-586, 788.9
* MeSH: D014511
* DiseasesDB: 26060
External resources
* eMedicine: med/2341
* v
* t
* e
Kidney disease
Glomerular disease
* See Template:Glomerular disease
Tubules
* Renal tubular acidosis
* proximal
* distal
* Acute tubular necrosis
* Genetic
* Fanconi syndrome
* Bartter syndrome
* Gitelman syndrome
* Liddle's syndrome
Interstitium
* Interstitial nephritis
* Pyelonephritis
* Balkan endemic nephropathy
Vascular
* Renal artery stenosis
* Renal ischemia
* Hypertensive nephropathy
* Renovascular hypertension
* Renal cortical necrosis
General syndromes
* Nephritis
* Nephrosis
* Renal failure
* Acute renal failure
* Chronic kidney disease
* Uremia
Other
* Analgesic nephropathy
* Renal osteodystrophy
* Nephroptosis
* Abderhalden–Kaufmann–Lignac syndrome
* Diabetes insipidus
* Nephrogenic
* Renal papilla
* Renal papillary necrosis
* Major calyx/pelvis
* Hydronephrosis
* Pyonephrosis
* Reflux nephropathy
* v
* t
* e
Symptoms and signs relating to the urinary system
Pain
* Dysuria
* Renal colic
* Costovertebral angle tenderness
* Vesical tenesmus
Control
* Urinary incontinence
* Enuresis
* Diurnal enuresis
* Giggling
* Nocturnal enuresis
* Post-void dribbling
* Stress
* Urge
* Overflow
* Urinary retention
Volume
* Oliguria
* Anuria
* Polyuria
Other
* Lower urinary tract symptoms
* Nocturia
* urgency
* frequency
* Extravasation of urine
* Uremia
Eponymous
* Addis count
* Brewer infarcts
* Lloyd's sign
* Mathe's sign
Authority control
* NDL: 00575462
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
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Uremia
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c0041948
| 8,655 |
wikipedia
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https://en.wikipedia.org/wiki/Uremia
| 2021-01-18T18:34:46 |
{"mesh": ["D014511"], "umls": ["C0041948"], "icd-9": ["585", "788.9", "586"], "wikidata": ["Q13365776"]}
|
Mondor's disease
Other namesMondor's syndrome of superficial thrombophlebitis[1]
Play media
Clot seen on ultrasound of the dorsal penile vein[2]
SpecialtyCardiology
Mondor's disease is a rare condition which involves thrombophlebitis of the superficial veins of the breast and anterior chest wall. It sometimes occurs in the arm or penis.[3] In axilla, this condition is known as axillary web syndrome.[4]
Patients with this disease often have abrupt onset of superficial pain, with possible swelling and redness of a limited area of their anterior chest wall or breast. There is usually a lump present, which may be somewhat linear and tender. Because of the possibility of the lump being from another cause, patients are often referred for mammogram and/or breast ultrasound.[5]
Mondor's disease is self-limiting and generally benign. A cause is often not identified, but when found includes trauma, surgery, or inflammation such as infection. There have been occasional cases of associated cancer.[6] Management is with warm compresses and pain relievers, most commonly NSAIDS such as ibuprofen. When thrombophlebitis affects the greater veins, it can progress into the deep venous system, and may lead to pulmonary embolism.[7]
It is named after Henri Mondor (1885–1962), a surgeon in Paris, France who first described the disease in 1939.[8]
## See also[edit]
* Breast cancer
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
2. ^ "UOTW #43 - Ultrasound of the Week". Ultrasound of the Week. 2 April 2015. Retrieved 27 May 2017.
3. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 827. ISBN 978-0-7216-2921-6.
4. ^ Shoham Y, Rosenberg N, Krieger Y, Silberstein E, Arnon O, Bogdanov-Berezovsky A (December 2011). "[Axillary web syndrome—a variant of Mondor's disease, following excision of an accessory breast]". Harefuah (in Hebrew). 150 (12): 893–4, 937, 936.
5. ^ Shetty MK, Watson AB (October 2001). "Mondor's disease of the breast: sonographic and mammographic findings". American Journal of Roentgenology. 177 (4): 893–6. doi:10.2214/ajr.177.4.1770893. PMID 11566698.
6. ^ Catania S, Zurrida S, Veronesi P, Galimberti V, Bono A, Pluchinotta A (May 1992). "Mondor's disease and breast cancer". Cancer. 69 (9): 2267–70. doi:10.1002/1097-0142(19920501)69:9<2267::aid-cncr2820690910>3.0.co;2-u. PMID 1562972.
7. ^ Menesez, Nelson. "Superficial thrombophebitis". MedScape. Retrieved 28 August 2012.
8. ^ Henri Mondor: Tronculite sous-cutanée subaiqure de la paroi thoracique antero-laterale, In: Mem. Acad. Chir. 1271, 1939
## External links[edit]
Classification
D
* ICD-10: I80.8 (ILDS I80.81)
* ICD-9-CM: 451.89
* DiseasesDB: 32183
External resources
* eMedicine: derm/909
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Mondor's disease
|
c0265070
| 8,656 |
wikipedia
|
https://en.wikipedia.org/wiki/Mondor%27s_disease
| 2021-01-18T19:08:58 |
{"gard": ["7054"], "icd-9": ["451.89"], "icd-10": ["I80.8"], "wikidata": ["Q555816"]}
|
Secondary malignant neoplasm
SpecialtyOncology
Secondary malignant neoplasm is a malignant tumor whose cause is the treatment (usually radiation or chemotherapy) which was used for a prior tumor.[1] It must be distinguished from Metastasis from the prior tumor or a relapse from it since a secondary malignant neoplasm is a different tumor.
## References[edit]
1. ^ "Secondary Malignancies".
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Secondary malignant neoplasm
|
c0751623
| 8,657 |
wikipedia
|
https://en.wikipedia.org/wiki/Secondary_malignant_neoplasm
| 2021-01-18T18:52:48 |
{"mesh": ["D016609"], "umls": ["C0751623"], "wikidata": ["Q55632784"]}
|
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
## Epidemiology
The prevalence is unknown but the disease has been described in at least 8 families with over 30 affected members in some large kindreds.
## Clinical description
The disease shows significant inter and intrafamilial clinical variation, with enamel hypoplasia and taurodontism being the most consistent features, however, the extent of the enamel defects may also vary between affected family members. The hair and bone manifestations are more variable and age dependent. Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence. The BMD measurements show increasing variability with age, particularly in the radius and ulna. In addition, spinal BMD shows an increase with age. Other reported features include flat/brittle fingernails, increased susceptibility for caries and abscesses, delayed dental eruption, tubular sclerosis of the long bones, dolichocephaly (as a result of craniosynostosis), and an absence of mastoid pneumatisation, the frontal sinus and calvarial diploe.
## Etiology
The syndrome is caused by mutations in the distal-less homeobox gene (DLX3), located on the long arm of chromosome 17 (17q21.3-q22).
## Diagnostic methods
Diagnosis can be made by clinical and radiological examination and confirmed by detection of DLX3 mutations.
## Differential diagnosis
The differential diagnosis should include amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism (AIHHT), oculodentoosseous dysplasia (see this term) and the autosomal dominant form of osteopetrosis (see this term).
## Genetic counseling
The disease is transmitted as a highly penetrant autosomal dominant trait.
## Management and treatment
Treatment is symptomatic and patients require frequent dental follow-up.
## Prognosis
The prognosis is good and there appearsto be no predisposition for developing fractures.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Tricho-dento-osseous syndrome
|
c0265333
| 8,658 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3352
| 2021-01-23T17:50:20 |
{"gard": ["7799"], "mesh": ["C536549"], "omim": ["190320"], "umls": ["C0265333"], "icd-10": ["Q82.4"], "synonyms": ["TDO syndrome"]}
|
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes. Treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Arthrogryposis multiplex congenita
|
c0003886
| 8,659 |
gard
|
https://rarediseases.info.nih.gov/diseases/777/arthrogryposis-multiplex-congenita
| 2021-01-18T18:02:02 |
{"mesh": ["C536613", "D001176"], "icd-10": ["Q74.3"], "orphanet": ["1037"], "synonyms": ["Fibrous ankylosis of multiple joints", "Rossi syndrome", "Guerin-Stern syndrome", "Guérin-Stern syndrome", "Rocher-Sheldon syndrome", "Congenital multiple arthrogryposis", "AMC", "Arthrogryposis", "Otto syndrome", "Myodystrophia fetalis deformans", "Congenital arthromyodysplasia", "Multiple congenital arthrogryposis"]}
|
Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Carcinofibroma of the corpus uteri
|
None
| 8,660 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213605
| 2021-01-23T18:50:05 |
{"icd-10": ["C54.0", "C54.1", "C54.2", "C54.3", "C54.8"]}
|
## Clinical Features
Waaler and Aarskog (1980) reported a Norwegian family in which the mother had hydrocephalus, rib malformations, dysplasia of thoracic vertebrae and Sprengel anomaly, and each of her 3 daughters had 1 or more of these 4 features. The hydrocephalus (present in the mother and a daughter) was moderate and compensated spontaneously, making shunt operation unnecessary.
Ferlini et al. (1995) reported a family in which a mother and her 3 daughters had delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, and skeletal anomalies consisting of brachydactyly and Sprengel anomaly.
Inheritance
Ferlini et al. (1995) raised the possibility X-linked dominant inheritance of this disorder, but an autosomal dominant pattern of inheritance could not be ruled out in this family or in the family reported by Waaler and Aarskog (1980). It may be noteworthy that the mother reported by Ferlini et al. (1995) had had a spontaneous male abortion and a neonatal death of a male offspring, the cause of death being unknown.
INHERITANCE \- ?Autosomal dominant HEAD & NECK Face \- Malar hypoplasia (in one family) \- High forehead (in one family) \- Prognathism Ears \- Low-set ears (in one family) Eyes \- Hypertelorism \- Epicanthus (in one family) Nose \- Bulbous nose (in one family) \- Low nasal bridge (in one family) \- Broad nasal bridge (in one family) \- Anteverted nostrils (in one family) Mouth \- High-arched palate Teeth \- Enamel hypoplasia (in one family) CHEST Ribs Sternum Clavicles & Scapulae \- Sprengel deformity \- Malformed ribs SKELETAL Skull \- Prominent mandible Spine \- Costovertebral dysplasia \- Malformed thoracic vertebrae \- Kyphoscoliosis Hands \- Brachydactyly (in one family) Feet \- Sandal gap (in one family) NEUROLOGIC Central Nervous System \- Hydrocephalus \- Convulsions, febrile (in some patients) \- White matter alterations (in one family) \- Arachnoid cysts (in one family) \- Dilatation of the lateral ventricles (in one family) \- Dilatation of the 3rd ventricle (in one family) \- Psychomotor delay (in one family) \- Gross motor delay (in one family) \- Mental retardation (rare) Behavioral Psychiatric Manifestations \- Psychosis (rare) MISCELLANEOUS \- Two families reported (last curated February 2013) \- All reported patients are female \- Possible X-linked dominant inheritance ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA
|
c2931197
| 8,661 |
omim
|
https://www.omim.org/entry/600991
| 2019-09-22T16:15:31 |
{"mesh": ["C536461"], "omim": ["600991"], "orphanet": ["2180"]}
|
Urticarial erythema multiforme
SpecialtyDermatology
Urticarial erythema multiforme is an unusual reaction virtually always associated with antibiotic ingestions, characterized by skin lesions that consist of urticarial papules and plaques, some of which clear centrally forming annular lesions, but with no true urticarial lesions.[1]:130
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: Y40
* ICD-9-CM: E930.8
* v
* t
* e
Adverse drug reactions
Antibiotics
* Penicillin drug reaction
* Sulfonamide hypersensitivity syndrome
* Urticarial erythema multiforme
* Adverse effects of fluoroquinolones
* Red man syndrome
* Jarisch–Herxheimer reaction
Hormones
* Steroid acne
* Steroid folliculitis
Chemotherapy
* Chemotherapy-induced acral erythema
* Chemotherapy-induced hyperpigmentation
* Scleroderma-like reaction to taxanes
* Hydroxyurea dermopathy
* Exudative hyponychial dermatitis
Anticoagulants
* Anticoagulant-induced skin necrosis
* Warfarin necrosis
* Vitamin K reaction
* Texier's disease
Immunologics
* Adverse reaction to biologic agents
* Leukotriene receptor antagonist-associated Churg–Strauss syndrome
* Methotrexate-induced papular eruption
* Adverse reaction to cytokines
Other drugs
* Anticonvulsant hypersensitivity syndrome
* Allopurinol hypersensitivity syndrome
* Vaccine adverse event
* Eczema vaccinatum
* Bromoderma
* Halogenoderma
* Iododerma
General
Skin and body membranes
* Acute generalized exanthematous pustulosis
* Bullous drug reaction
* Drug-induced acne
* Drug-induced angioedema
* Drug-related gingival hyperplasia
* Drug-induced lichenoid reaction
* Drug-induced lupus erythematosus
* Drug-induced nail changes
* Drug-induced pigmentation
* Drug-induced urticaria
* Stevens–Johnson syndrome
* Injection site reaction
* Linear IgA bullous dermatosis
* Toxic epidermal necrolysis
* HIV disease-related drug reaction
* Photosensitive drug reaction
Other
* Drug-induced pseudolymphoma
* Fixed drug reaction
* Serum sickness-like reaction
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Urticarial erythema multiforme
|
None
| 8,662 |
wikipedia
|
https://en.wikipedia.org/wiki/Urticarial_erythema_multiforme
| 2021-01-18T18:29:44 |
{"icd-9": ["E930.8"], "icd-10": ["Y40"], "wikidata": ["Q7901362"]}
|
## Summary
### Clinical characteristics.
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
### Diagnosis/testing.
The diagnosis of NBCCS is established in a proband who fulfills existing diagnostic clinical criteria. Identification of a heterozygous germline pathogenic variant in PTCH1 or SUFU on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.
### Management.
Treatment of manifestations: Best provided by specialists experienced with the condition; keratocysts usually require surgical excision; early treatment of BCCs to ensure complete eradication of aggressive BCCs and to preserve normal tissue to prevent disfigurement; sonic hedgehog inhibitors such as vismodegib to treat severe BCCs; preservation of ovarian tissue whenever ovarian fibromas require surgical treatment. However, the cost of treatment has meant that the National Institute for Health and Care Excellence in the UK has judged the treatment not cost effective.
Prevention of primary manifestations: Avoidance of direct sun exposure through the use of complete sunblock and covering of exposed skin with long sleeves, high collars, and hats.
Surveillance: Monitoring of head circumference throughout childhood; developmental assessment and physical examination every six months in the first years of life because of increased risk for medulloblastoma; in those older than age eight years, orthopantogram every 12-18 months to identify jaw keratocysts; skin examination at least annually.
Agents/circumstances to avoid: Radiotherapy if there are alternative treatments, especially in childhood; diagnostic x-rays should be used sparingly; direct sun exposure should be limited; excessive sun exposure increases the likelihood of developing BCCs.
Evaluation of relatives at risk: Because of the need for surveillance for complications of NBCCS (medulloblastoma in children; jaw cysts and BCCs in adults) and the need to avoid sun exposure, clarification of the genetic status of at-risk relatives, including children, is appropriate.
### Genetic counseling.
NBCCS is inherited in an autosomal dominant manner. Approximately 70%-80% of individuals with NBCCS have an affected parent and about 20%-30% have NBCCS as the result of a de novo pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting NBCCS. Prenatal testing for pregnancies at risk is possible if the PTCH1 or SUFU pathogenic variant has been identified in an affected family member.
## Diagnosis
### Suggestive Findings
Nevoid basal cell carcinoma syndrome (NBCCS) should be suspected in individuals with the following findings, which constitute major or minor diagnostic criteria.
Major criteria
* Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger than age 20 years. Falx calcification is nearly always present and is visible on anteroposterior (AP) x-rays of the skull after age 20 years (see Notes regarding radiographs).
* Jaw keratocyst. Odontogenic keratocyst histologically; seen on orthopantogram as an area of translucency
* Palmar/plantar pits (≥2); particularly useful in diagnosis and more pronounced when the hands and feet are soaked in warm water for up to ten minutes. Pits may appear as white "punched-out" or pink "pin-prick" lesions.
* Multiple basal cell carcinomas (BCCs) (>5 in a lifetime) or a BCC before age 30 years. Provision needs to be made for decreased risk of BCC in individuals with dark skin and increased risk in those with light skin living in hot sunny climates, particularly those with type 1 Celtic skin and red hair, and of this group, particularly those with the common MC1R variant (rs1805007), which can modify age of onset for NBCCS [Yasar et al 2015].
* First-degree relative with NBCCS
Minor criteria
* Childhood medulloblastoma (also called primitive neuroectodermal tumor)
Note: A consensus meeting consisting of US-based experts (with one French participant) has suggested changing medulloblastoma to a major criterion and allowing the diagnosis of NBCCS with only two minor criteria in addition to a major criterion [Bree et al 2011]. The concern would be that this would reduce the specificity of diagnostic criteria, as individuals with medulloblastoma undergoing radiotherapy without NBCCS are likely to develop more than one BCC. Confining the medulloblastoma diagnosis to nodular/desmoplastic and disallowing BCCs occurring after radiotherapy as a major criterion may improve sensitivity without losing specificity. These changes have not yet been adopted. A consensus conference on screening recommendations convened by the American Association of Cancer Research did not propose adopting the Bree et al criteria [Foulkes et al 2017].
* Lympho-mesenteric or pleural cysts
* Macrocephaly (OFC >97th centile)
* Cleft lip/palate
* Vertebral/rib anomalies observed on chest x-ray and/or spinal x-ray (see Notes regarding radiographs): bifid/splayed/extra ribs; bifid vertebrae
* Preaxial or postaxial polydactyly
* Ovarian/cardiac fibromas
* Ocular anomalies (e.g., cataract, developmental defects, and pigmentary changes of the retinal epithelium)
Notes regarding radiographs
* To verify a clinical diagnosis of NBCCS, AP and lateral x-rays of the skull, an orthopantogram, chest x-ray, and spinal x-ray are usually necessary.
* Clinicians should avoid using x-rays in childhood if the diagnosis is obvious without them or if a known pathogenic variant exists in the family.
* If radiographs have already been taken (i.e., before the diagnosis of NBCCS is being considered) it is preferable to obtain and review the original radiographs rather than repeat them because individuals with NBCCS are susceptible to x-irradiation.
* Even when present, bifid ribs, bifid vertebrae, and falx calcification are often not mentioned in formal reports of radiographic findings, as these can also be normal variations in the general population.
* X-ray findings may be helpful in suggesting or confirming the diagnosis in young children with cardiac fibromas, cleft lip/palate, polydactyly, or macrocephaly [Debeer & Devriendt 2005, Veenstra-Knol et al 2005].
### Establishing the Diagnosis
The diagnosis of NBCCS is established in a proband with the following findings:
* Two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria [Evans et al 1993]. A similar series of diagnostic criteria was proposed by Kimonis et al [1997]. No study has been able to assess which combination of diagnostic criteria represents the best trade-off between sensitivity and specificity.
* Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing (see Table 1). This finding establishes the diagnosis if clinical features are inconclusive.
Note: (1) Occasional variants in PTCH2 have been found in individuals with NBCCS but these may not be conclusive [Fujii et al 2013]. Likewise, SUFU pathogenic variants may not always cause typical NBCCS (see Genetically Related Disorders). (2) Identification of an identical PTCH1 pathogenic variant in two or more separate tumors but not present (or present at a lower-than-normal ratio) in lymphocyte DNA confirms the presence of mosaicism [Evans et al 2007].
Molecular testing approaches can include serial single-gene testing, use of a multigene panel, and more comprehensive genomic testing.
Serial single-gene testing. Suggested order:
1.
Sequence analysis of PTCH1
2.
Gene-targeted deletion/duplication analysis of PTCH1
3.
Sequence analysis of SUFU
4.
Gene-targeted deletion/duplication analysis of SUFU
5.
RNA analysis of PTCH1
Note: SUFU molecular testing should be considered first in families with medulloblastoma and without jaw keratocysts [Smith et al 2014].
A multigene panel that includes PTCH1, SUFU and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) If only NBCCS is being considered, a bespoke panel of just PTCH1 and SUFU should be considered optimal as large multigene panels may have decreased sensitivity and may not include gene-targeted deletion/duplication analysis or PTCH1 RNA analysis necessary to identify large rearrangements [Smith et a 2014, Smith et al 2016]. (2) 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. (3) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is mot likely to identify the genetic cause of 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. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Nevoid Basal Cell Carcinoma Syndrome
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PTCH1Sequence analysis 3, 450%-85% 4, 5
Gene-targeted deletion/duplication analysis 66%-21% 7
SUFUSequence analysis 35% 8
Gene-targeted deletion/duplication analysis 6~1% 8
UnknownNA15%-27% 9
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Sequence analysis that detects deep intronic variants may be appropriate. Rare deep intronic variants that alter splicing are predicted to cause loss of function of protein patched homolog 1 [Bholah et al 2014].
5\.
Sequence analysis of exons 2-23 with intron-exon junctions and one of the splice forms of exon 1 of transcript variant NM_000264.4 detects pathogenic variants in 50%-85% of individuals with typical clinical findings of NBCCS. Individuals and families with no other features apart from multiple BCCs have a very small probability of having a PTCH1 pathogenic variant [Klein et al 2005, Marsh et al 2005, Evans et al 2017].
6\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
7\.
Eight of 38 individuals with NBCCS had large deletions that were not identified using sequence analysis [Nagao et al 2011].
8\.
Smith et al [2014]
9\.
Smith et al [2014], Evans et al [2017]
## Clinical Characteristics
### Clinical Description
More than 100 features that are variable within and among families have been associated with nevoid basal cell carcinoma syndrome (NBCCS) [Farndon 2004]. Findings are presented here in the usual order of manifestation.
Macrocephaly. The first feature likely to be observed is relative macrocephaly. A large proportion of babies with NBCCS require delivery by cesarean section because of large head size. After birth, the head growth pattern often resembles that of arrested hydrocephalus, but hydrocephaly requiring treatment is rare. Head circumference increases above the 97th centile until age ten to 18 months and then maintains its centile.
Other congenital malformations, found in approximately 5%, include cleft lip/palate (5%), polydactyly, and severe eye anomalies. Eye findings include strabismus, cataract, orbital cyst, microphthalmia, and pigmentary changes of the retinal epithelium [Black et al 2003, Ragge et al 2005].
Gross motor delay. There is often some delay in motor milestones; most individuals catch up by about age five years. No published psychometric evidence for global delay exists.
Medulloblastoma. Approximately 5% of all individuals with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuroectodermal tumor) [Cowan et al 1997]. The tumor tends to be of desmoplastic histology [Amlashi et al 2003] and to have a favorable prognosis. Peak incidence of medulloblastoma in NBCCS is at approximately age one to two years, compared to age seven years in its sporadic form [Cowan et al 1997, Amlashi et al 2003].
More recently, nonsense and missense variants and multiexon deletion of SUFU were identified in three families with classic NBCCS features; one individual in each family had medulloblastoma [Smith et al 2014]. SUFU-related NBCCS is associated with a high risk for medulloblastoma of up to 33% (3/9) and a high meningioma risk post radiation. The risk for medulloblastoma in PTCH1-related NBCCS was less than 2% [Smith et al 2014].
Facies. Approximately 60% of individuals with a PTCH1 pathogenic variant have a recognizable appearance with frontal bossing, coarse facial features, and facial milia. Facial features are likely more subtle in individuals with an SUFU pathogenic variant.
Skeletal features. Congenital bone anomalies are present at birth but will not be evident clinically in a newborn. The shoulders slope downward. Most individuals have skeletal anomalies identified on radiographs (e.g., bifid ribs, wedge-shaped vertebrae). Severe skeletal defects resulting from multiple rib/vertebral anomalies have been reported but are uncommon, as is open spina bifida.
Ectopic calcification, particularly in the falx, is present in more than 90% of individuals by age 20 years [Ratcliffe et al 1995, Kimonis et al 2004]. Sella calcification, when present, is visible on lateral x-rays of the skull.
Jaw keratocysts. Approximately 90% of individuals with PTCH1-related NBCCS develop multiple jaw keratocysts. They can occur as early as age five years, but the peak occurrence is in the teenage years. Jaw keratocysts usually present as painless swellings. Untreated, they can lead to major tooth disruption and fracture of the jaw. Jaw cysts rarely occur after age 30 years.
Jaw cysts have not been reported in individuals with SUFU-related NBCCS [Smith et al 2014].
A rare malignant transformation of a keratocyst called ameloblastoma has been reported in individuals with NBCCS at least six times [Ponti et al 2012].
Basal cell carcinomas (BCCs). Brownish/pink/orange basal cell nevi may occur in early childhood and may lie quiescent without evidence of aggressive behavior. The histologic appearance is that of a typical BCC which, when excised, can be the first, unexpected finding of NBCCS in simplex cases (i.e., affected individuals with no known family history of NBCCS), especially children. Active BCCs may grow from existing basal cell nevi that may be numerous, or typical BCCs may appear from virtually blemish-free skin. BCCs may also crust, bleed, and ulcerate, or may present as a localized infection.
BCCs can occur in early childhood, but in general do not present until the late teens or early adulthood. They occur more frequently with age, although 10% of individuals with NBCCS never develop a BCC. Individuals with type 1 skin (white skin that burns, but never tans, e.g., Celtic skin) and individuals with excessive ultraviolet light exposure seem especially prone to developing large numbers of BCCs. Clinically some affected individuals appear to be particularly radiosensitive, with new BCCs appearing in the field of radiation following radiotherapy.
Other skin manifestations include meibomian cysts in the eyelids, sebaceous cysts, and dermoid cysts. Skin tags (especially around the neck) often have the histologic appearance of BCCs but do not act aggressively.
Other tumors. Cardiac and ovarian fibromas occur, respectively, in approximately 2% and 20% of females [Evans et al 1993, Gorlin 2004]. Cardiac fibromas are usually present at birth or soon after. They can be asymptomatic or can cause arrhythmia or obstruction of cardiac flow. Rhabdomyomas may occur at other sites as well as in the heart [Watson et al 2004].
Ovarian fibromas occur with both SUFU and PTCH1-related NBCCS and may be more common in individuals with SUFU-related NBCCS [Evans et al 2017]. They are usually an incidental finding on ultrasound examination or at cesarean section. They may cause torsion of the ovary, but are not thought to affect fertility. They can become large and calcified; however, malignant transformation is uncommon.
The risk for other malignant tumors is not clearly increased, although lymphoma [Pereira et al 2011] and meningioma have been reported [Kijima et al 2012].
Morbidity/mortality. Life expectancy in NBCCS is not significantly different from average [Wilding et al 2012]. The major problem is with the cosmetic effect of treatment of multiple skin tumors and usually, to a lesser extent, treatment of jaw keratocysts. A poor cosmetic outcome can lead to social difficulties, including difficulty maintaining employment.
### Phenotype Correlations by Gene
#### PTCH1
A recent review of 182 genotyped individuals with NBCCS found that individuals with PTCH1-related NBCCS were more likely to be diagnosed earlier (p=0.02), have jaw cysts (p=0.002), and have bifid ribs (p=0.003) or any skeletal abnormality (p=0.003), than individuals with no identified pathogenic variant [Evans et al 2017].
Approximately 90% of individuals with PTCH1-related NBCCS develop multiple jaw keratocysts.
Approximately 60% of individuals with a PTCH1 pathogenic variant have a recognizable appearance with frontal bossing, coarse facial features, and facial milia.
The risk for medulloblastoma in PTCH1-related NBCCS was lower than 2% [Smith et al 2014].
#### SUFU
SUFU-related NBCCS is associated with a high risk for medulloblastoma of up to 33% (3/9) and a high meningioma risk post radiation.
Facial features are likely more subtle in individuals with an SUFU pathogenic variant.
Overall, clinical features are milder in individuals with SUFU-related NBCCS with less BCCs, and no jaw cysts reported [Evans et al 2017].
### Genotype-Phenotype Correlations
PTCH1. Individuals with PTCH1 missense variants were diagnosed later (p=0.03) and were less likely to develop ten or more BCCs and jaw cysts than those with other PTCH1 pathogenic variants (p=0.03).
### Penetrance
Although NBCCS shows intra- and interfamilial variation in expression, experience clinically and from molecular testing is compatible with complete penetrance [Author, personal observation]. A previous report of reduced penetrance in a family with medulloblastoma based on PTCH1 linkage analysis was refuted when the family was shown to have an SUFU pathogenic variant. [Smith et al 2014]. The penetrance of SUFU pathogenic variants is more difficult to determine, but is likely to be reduced.
### Prevalence
Few studies of NBCCS prevalence exist. The most quoted prevalence figure, 1:57,000, comes from a study of a UK population of four million in northwest England [Evans et al 1991b]. Since publication of the study, an increased awareness of NBCCS and consequent increased diagnosis has led to a revision of that figure to nearer to 1:30,827 [Evans et al 2010]. The true figure may be even higher, as individuals with milder features may not be recognized.
A study in Australia gave a minimum prevalence of 1:164,000 [Shanley et al 1994].
Birth incidence has been confirmed to be as high as1:18,976 [Evans et al 2010].
## Differential Diagnosis
The differential diagnosis depends on the mode of presentation.
### Macrocephaly
If the proband is a baby with macrocephaly and other birth defects, a limited number of overgrowth syndromes including Sotos syndrome and Beckwith-Wiedemann syndrome need to be considered.
Sotos syndrome is characterized by three cardinal clinical features: a distinctive facial appearance, learning disability, and overgrowth (increased height and head circumference ≥2 SD above the mean). Major features of Sotos syndrome include behavioral problems, advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity/pes planus, maternal preeclampsia, neonatal jaundice, neonatal hypotonia, renal anomalies, scoliosis, and seizures. The risk for sacrococcygeal teratoma and neuroblastoma is slightly increased. The diagnosis is established in a proband by identification of a heterozygous NSD1 pathogenic variant. Sotos syndrome is inherited in an autosomal dominant manner with more than 95% of individuals having a de novo pathogenic variant.
Beckwith-Wiedemann syndrome (BWS) is a disorder of growth variably characterized by neonatal hypoglycemia, macrosomia (large body size), macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, nephromegaly), and ear creases/pits. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. A provisional diagnosis of BWS based on clinical assessment may be confirmed by molecular/cytogenetic testing. BWS is associated with abnormal regulation of gene transcription in two imprinted domains on chromosome 11p15.5.
Isolated hydrocephaly or megalencephaly may be distinguished by clinical examination, family history, and x-rays.
### Basal Cell Carcinomas (BCCs)
If the initial presentation is multiple BCCs, clinical examination and radiographs should nearly always establish the diagnosis of NBCCS.
Other inherited disorders with similar skin findings include the following:
* Brooke-Spiegler syndrome, characterized by trichoepitheliomas, milia, and cylindromas. Brooke-Spiegler syndrome presents in the second or third decade. It is caused by pathogenic variants in CYLD and inherited in an autosomal dominant manner. The milia are miniature trichoepitheliomas and appear only in sun-exposed areas.
* Bazex syndrome, characterized by multiple BCCs, follicular atrophoderma on the dorsum of hands and feet, decreased sweating, and hypotrichosis (OMIM 301845). The pitting on the backs of the hands is reminiscent of orange peel and quite unlike the palmar and plantar pits of NBCCS. The inheritance pattern is either autosomal dominant or X-linked.
* Rombo syndrome, a dominantly inherited condition similar to Bazex syndrome, reported in a single family (OMIM 180730). Skin findings are vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, BCCs, and peripheral vasodilation with cyanosis. The skin is normal until later childhood; BCCs develop in adulthood. Sweating is normal.
* An autosomal dominant or X-linked syndrome of hypotrichosis and BCCs, reported in a single family [Oley et al 1992] (OMIM 301845)
* Autosomal dominant inheritance of multiple basal cell carcinomas in the absence of other features
Acquired causes of multiple BCCs include arsenic exposure.
### Jaw Keratocysts
If the initial presentation is jaw keratocysts, clinical examination and radiographs should nearly always establish the diagnosis of NBCCS. In addition to examination of the child, a medical history and examination of the parents is advised.
### Medulloblastoma
Children presenting with medulloblastoma need to be assessed for NBCCS, particularly if they are younger than age three years and/or have desmoplastic histology. In addition to examining the child, a medical history and examination of the parents is advised.
Children with nodular or desmoplastic medulloblastoma also need to be assessed for a germline heterozygous pathogenic variant in SUFU [Brugières et al 2012]. Brugières and colleagues found that 3/3 individuals with nodular medulloblastoma and 4/20 individuals with desmoplastic medulloblastoma caused by a germline heterozygous pathogenic variant in SUFU had some features of NBCCS. Furthermore, a germline pathogenic variant in SUFU is associated with macrocephaly and 1/8 individuals with an SUFU heterozygous germline pathogenic variant who had medulloblastoma developed BCCs in the radiation field [Brugières et al 2012].
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with nevoid basal cell carcinoma syndrome (NBCCS), the following evaluations are recommended if they have not already been completed:
* Baseline measurement of head circumference, preferably plotted on a chart that accounts for height. Evidence of rapid increase in centiles should prompt further investigation to exclude hydrocephalus.
* Physical examination for birth defects of clinical significance (e.g., orofacial clefts, polydactyly)
* X-rays to evaluate for rib and vertebral anomalies and falx calcification
* Ophthalmologic evaluation for evidence of strabismus, cataract, orbital cyst, microphthalmia, and pigmentary changes of the retinal epithelium
* Evaluation by a dentist or orthodontist familiar with NBCCS; jaw x-ray (orthopantogram) in individuals age eight years or older to evaluate for jaw keratocysts and other anomalies
* Skin examination by a dermatologist familiar with NBCCS
* Ultrasound examination of the ovaries to evaluate for ovarian fibromas prior to pregnancy
* Echocardiography in the first year of life to evaluate for cardiac fibromas
* Consultation with a clinical geneticist and/or genetic counselor
Because mesenteric and pleural cysts are rare, evaluation is not necessary in the absence of symptoms.
### Treatment of Manifestations
Manifestations should be treated by specialists (e.g., oral surgeon, dermatologist, plastic surgeon, pediatrician, clinical geneticist) experienced with the condition.
* Keratocysts usually require surgical excision.
* Early treatment of BCCs is essential to prevent long-term cosmetic problems, particularly on the face. The priorities are to ensure complete eradication of aggressive BCCs, and to preserve normal tissue to prevent disfigurement. Surgical excision is supplemented by a number of other possible treatments including cryotherapy and laser treatment for early lesions and photodynamic therapy. Photodynamic therapy is particularly suitable for thin lesions of <2 mm on ultrasound [Basset-Seguin et al 2014]. Surgical treatment using Mohs' microsurgery [Mohs et al 1980] appears particularly effective.
Systemic treatment with retinoids (e.g., etretinate) is possible but often not well tolerated.
Treatment of individuals with severe BCC manifestations and/or advanced lesions with sonic hedgehog inhibitors such as vismodegib is now possible; although side effects are common and quite severe, there is a high resolution of advanced lesions and reduction in new BCCs [Sekulic et al 2012]. Sonic hedgehog inhibitors may be particularly helpful with lesions around the eyes [Ozgur et al 2015]. However, the cost of treatment has meant that the National Institute for Health and Care Excellence (NICE) in the UK has judged the treatment not cost effective.
* Cardiac fibromas may be asymptomatic and can be monitored by a pediatric cardiologist.
* If ovarian fibromas require surgical treatment, preservation of ovarian tissue is recommended, although it involves a risk of recurrence [Seracchioli et al 2001].
### Prevention of Primary Manifestations
Affected individuals should avoid UV exposure and cover up exposed skin by wearing long sleeves, high collars, and hats; complete sunblock should be used.
Avoid unnecessary radiation exposure from the environment, investigative radiology, or radiotherapy treatment.
### Surveillance
Head circumference should be followed throughout childhood and plotted on appropriate growth charts. Rapid enlargement should prompt evaluation for possible hydrocephalus.
Awareness of the risk of medulloblastoma in the first years of life is important and may justify developmental assessment and physical examination every six months. No evidence for the efficacy of regular neuroimaging exists; frequent computed tomography scans should be avoided because of risks associated with radiation sensitivity. A consensus meeting has suggested annual head MRI scans until age eight years in affected children [Bree et al 2011], but this would require general anesthesia for many children and is probably not now justified in PTCH1-related NBCCS with only a 2% risk [Foulkes et al 2017]. However, it may well be justified in infants with SUFU pathogenic variants [Smith et al 2014]; this has been supported by a consensus statement recommendation to "consider brain MRI every four months through age three years, then brain MRI every six months until the age five years" [Foulkes et al 2017].
A baseline heart ultrasound examination in infants has been advocated by Foulkes et al [2017].
Ovarian ultrasound in women at age 18 has been advocated by Foulkes et al [2017].
No other tumors occur at a frequency that warrants surveillance above that offered to members of the general population.
Orthopantogram is indicated every 12-18 months in individuals older than age eight years to identify jaw keratocysts [Foulkes et al 2017].
Skin should be examined at least annually; some physicians recommend skin examination by a professional every three to four months.
### Agents/Circumstances to Avoid
Use of radiotherapy can lead to the development of thousands of BCCs in the radiation field [Strong 1977, Evans et al 1991a] and therefore should be avoided if there are alternative treatments, especially in childhood. If the treating team believes that no other treatment modality is possible, radiotherapy should be used through as few skin ports as possible.
Diagnostic x-rays should be used sparingly.
Individuals with NBCCS should be advised to avoid direct sun exposure as much as possible. Excessive sun exposure increases the likelihood of developing BCCs.
### Evaluation of Relatives at Risk
It is appropriate to evaluate apparently asymptomatic older and younger at-risk relatives (including children) of an affected individual in order to identify as early as possible those who would benefit from surveillance (see Surveillance) for complications of NBCCS (most notably medulloblastoma in children and jaw cysts and BCCs in adults) and avoidance of x-rays and sun exposure (see Agents/Circumstances to Avoid).
Evaluations can include:
* Molecular genetic testing if the pathogenic variant in the family is known;
* Clinical examination and x-rays of the skull for calcification if the pathogenic variant in the family is not known; these may be less likely to clarify the genetic status in a very young child because of the age-related features of NBCCS.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Since individuals with NBCCS have a large head circumference, a woman who is carrying an affected fetus should be assessed for the need for either early induction of labor or cesarean section delivery due to cephalopelvic disproportion.
### Therapies Under Investigation
Photodynamic therapy (with infra-red light) showed early promise and appears safe [Haylett et al 2003]. A recent study showed outcomes in 33 individuals with NBCCS treated with photodynamic therapy (PDT) with a near-60% control rate [Loncaster et al 2009].
Aminolevulinic acid has been investigated [Itkin & Gilchrest 2004, Oseroff et al 2005]. It is usually used in conjunction with PDT [Loncaster et al 2009].
Topical treatment with 5-fluorouracil (Efudex®) or imiquimod (5%) has been investigated [Kagy & Amonette 2000, Marks et al 2001, Stockfleth et al 2002]. A recent review suggested control rates approaching 90% for superficial BCCs and 50% for aggressive or nodular BCCs with imiquimod [Alessi et al 2009].
Topical 5-fluorouracil appears effective for superficial multicentric BCCs without follicular involvement but should not be used for deeply invasive BCCs.
Recently topical use of sonic hedgehog antagonists has entered clinical trials and is showing promise [Saran 2010]. Systemic use of sonic hedgehog antagonists in individuals with NBCCS who have advanced or refractory BCCs has also been effective [Sekulic et al 2012, Tang et al 2012], with a 43% response rate in 63 affected individuals with locally advanced BCCs. Response rates were very high in individuals with NBCCS but 53% discontinued therapy because of adverse side effects [Tang et al 2012]. Sonic hedgehog antagonists may be particularly useful for periocular lesions [Ozgur et al 2015]. A recent report suggests that anti-sonic hedgehog agents may also resolve keratocysts when given for BCC treatment [Goldberg et al 2011].
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Nevoid Basal Cell Carcinoma Syndrome
|
c0004779
| 8,663 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1151/
| 2021-01-18T21:07:58 |
{"mesh": ["D001478"], "synonyms": ["Basal Cell Nevus Syndrome (BCNS)", "Gorlin Syndrome", "NBCCS"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (August 2016) (Learn how and when to remove this template message)
Kyphoscoliosis
Kyphoscoliosis in a 10-year-old girl with HSANIII.
SpecialtyOrthopedic
Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles.
## Contents
* 1 Signs and symptoms
* 1.1 Kyphosis
* 1.2 Scoliosis
* 2 Cause
* 3 Diagnosis
* 4 Treatments
* 4.1 Surgery
* 4.2 Risks of corrective spine surgery: studies
* 5 See also
* 6 References
* 7 External links
## Signs and symptoms[edit]
The following are clear signs of Kyphoscoliosis:[citation needed]
* Abnormal hunch along with a presence of S or C-like shape.
* * Presence of associated disorders like hypertension, neurological disorders
* Abnormal gait
### Kyphosis[edit]
Kyphosis by itself refers to an excessive convex curvature of spine occurring in the thoracic and sacral regions. A normal thoracic curvature from the 1st to the 12th spine has a naturally occurring convex shape with angles ranging from 20 degrees to 45 degrees. When the curvature goes past 45 degrees, the condition is termed as Kyphosis.[citation needed]
Kyphosis, depending on the extent of curvature can result in many discomforts including breathing and digestion difficulties, cardiovascular issues, and even neurological deformities. The greater the extent of deformity, the more pressing the need becomes for a surgery.[citation needed]
Kyphosis by itself is of several types, including postural kyphosis caused by slouching. Such forms of kyphosis can be reversed to a certain extent by correcting muscular imbalances. The more debilitating version of kyphosis is Scheuermann’s kyphosis, found mostly in teenagers. There are few other causes of Kyphosis as well, such as congenital, nutritional or osteoporosis induced and post-traumatic.[citation needed]
Depending on the type of Kyphosis, the extent of curvature, the age of the patient, various treatment modalities can be suggested including the provision for posture correction, braces, physiotherapy for correcting the muscular imbalance, and finally the surgery. Surgery can be most useful in patients who have an extensive deformity. The rate of post-surgery complications may be higher in elderly patients.[citation needed]
### Scoliosis[edit]
Scoliosis refers to yet another form of abnormal curvature in which the person’s spine takes an "S" or "C" shape. Scoliosis has forms of treatments available similar to those for kyphosis including bracing, physical therapy and various types of surgeries. Typically, a human spine is straight laterally, but in scoliosis patients, there may be a curve of ten degrees in either direction, left or right.[citation needed]
## Cause[edit]
Kyphoscoliosis may manifest in an individual at different stages of life and for various causes. When present at a young age ranging from childhood to teenage, kyphoscoliosis may be present from birth due to congenital abnormalities including spina bifida.[citation needed]
Certain infections can also lead to the development of kyphoscoliosis such as vertebral tuberculosis or general tuberculosis. Osteochondrodysplasia, a disorder related to the development of bone and cartilage, can also cause this disease.[citation needed]
In later ages, kyphoscoliosis can occur in patients suffering from chronic degenerative diseases like osteoporosis and osteoarthritis. This type of incidence is usually seen in patients above 50 years of age and is mainly attributed to structural changes in the spine and adjoining tissues. Sometimes, a traumatic injury can also lead to its development.[citation needed]
Further, there are many idiopathic occurrences of kyphoscoliosis where the exact cause is not very well known but is suspected to be caused by genetic factors.[citation needed]
## Diagnosis[edit]
Kyphoscoliosis is one of the main criteria in kyphoscoliotic Ehlers–Danlos syndrome. It is caused by mutation in the PLOD1 gene and/or FKBP14[1] gene. The diagnosis is confirmed by molecular testing[2] and suggested when a patient meets criteria 1 and criteria 2: congenital muscle hypotonia and congenital or early onset kyphoscoliosis (progressive or non-progressive), respectively.[3]
## Treatments[edit]
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Skeletal specimen of adult female showing kyphoscoliosis (curvature of the spine), 1830–1860. Photographer: Kikel, V. R.
The decision to choose a particular treatment approach very much depends on multiple factors such as the age of the patient, understanding the root cause of the condition i.e. postural, congenital, etc., risks involved in surgery for the patient, etc.
* Physical therapy: When the extent of curvature is mild, and the underlying cause is bad posture, and then physical therapy becomes the first line of treatment. Physical therapy may also be advised for other causes as well to delay the development of abnormal curvatures, such as in the case of elderly patients suffering from the degenerative disease of bones and cartilage. The primary objective of physical therapy is to strengthen the spinal tissues for either correcting the curvature to the maximum extent possible or contain further damage.
* Back braces: In the cases when the underlying reason for deformity is postural and is detected before the growing age of bones, braces can be used. Braces provide support to the muscles and bones, as well as apply corrective pressure to reduce the curvature. The braces for kyphoscoliosis have to be designed such that it becomes effective with both abnormal curvatures in the coronal and sagittal plan. The latest in brace design is through the use of CAD/CAM, which is available only in few developed countries such as Germany. The efficacy of braces for correcting curvature issues has been analyzed by a few studies. In one such study, it was found that bracing led to successful outcomes in 72% of patients and correlated strongly with hours of braces worn.[citation needed] However, compliance with wearing braces for a period up to 18 hours or more can be physiologically and psychologically limiting, especially when one considers the teenage period.
* Surgery: see below.
* Oxygen on long term may be necessary in patients with significant hypoxemia.
### Surgery[edit]
Surgery is usually indicated when the extent of deformity is large, causes issues in physiological functions such as breathing, interferes with the daily activities or cosmetically unacceptable to the adult. It is also advised when the patient has passed the age where other therapies such as braces are no longer effective. Kyphoscoliosis implies that the patient has both types of curvature deformity.
The decision to undergo surgery or not is always a complex one, but sometimes, it becomes inevitable such as when the deformity begins to interface with crucial physiological functions like breathing or makes every day normal activities extremely painful. Sometimes, patients in their early adulthood may choose to have surgery because the presence of such deformity causes social issues such as acceptability among their peers, a disability that comes in the way of working, etc. In the case of elderly patients who suffer from such deformity triggered at a later age, other factors are to be considered such as the presence of underlying disease that caused it, whether a progressive decline is expected, and if conservative treatments using physiotherapy or drugs have failed to give relief from debilitating pain.
Surgical correction is attempted in some to fix the spine and arrest progression of the deformity. Surgical operations may include the use of spinal implants like the Harrington Rod, or the VEPTR.
### Risks of corrective spine surgery: studies[edit]
A study measured outcome from surgery of 49 cases of scoliosis and kyphoscoliosis. Of this sample, 36 patients were monitored for a period of 8 years.
* 23% – excellent condition
* 29% – good condition
* 34% – satisfactory
* 14% – bad
'Bad' refers to cases where the surgery failed to address the disease and the patient either had to undergo a revision surgery or continues to suffer from a poor quality of life as before surgery.
Typically post-surgery complications range up to 5% involving all major and minor complications when measured within one year of surgery. However, there may be a progressive decline in patient's condition after a few years.
In another study that evaluated surgical treatment of kyphoscoliosis and scoliosis due to congenital reasons, 91% of surgeries were found to be successful and met their intended objectives for the two-year follow-up period after surgery. The sample consisted of 23 patients of whom 17 were male and 6 were female, with an average age of 27 years, ranging from 13 to 61 years. The most popular type of surgeries for spinal correction includes pedicle subtraction osteotomy (PSO) and posterior vertebral column resection (pVCR).
Another study which focused on elderly patients found that the rate of complications was much higher for a sample population of 72 cases with mean age of 60.7 years. The rate of complications was as high as 22% in the entire sample. The study points that in the case of elderly patients, surgery should only be considered when there is no other option left; the disease is in progression stage, and the quality of life has degraded to an extent where conservative treatments can no longer help with pain.
While there are many surgical approaches for spinal deformity correction including anterior only, posterior only, anterior-posterior, the techniques that are most popular nowadays include the posterior only VCR or pVCR. One of the studies which analyze pVCR technique also noted the benefit of using a technique called NMEP monitoring in assisting the surgeon avoid any neurological complications while performing a spine surgery.
## See also[edit]
* Lordosis
* Pott's disease
* Ehlers-Danlos Syndrome
## References[edit]
1. ^ https://ghr.nlm.nih.gov/gene/FKBP14
2. ^ "EDS Types". The Ehlers-Danlos Society. Retrieved 22 May 2018.
3. ^ Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. 2017. "The Ehlers–Danlos syndromes, rare types". American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175C:70–115.
* MedEd at Loyola medicine/pulmonar/diseases/pul22.htm
* Bracing adolescents with idiopathic scoliosis; Journal of Paediatrics and Child Health, Volume 50 (5) – May 1, 2014
* Effects of bracing in adolescents with idiopathic scoliosis by Weinstein S.L., Dolan L.A., Wright J.G. & Dobbs M.B. (2013) The New England Journal of Medicine, 369, 1512 – 1521.
* Surgical treatment of adult degenerative scoliosis; Matteo, Palmisano; Eugen, Dema; Stefano, Cervellati; European Spine Journal, Volume 22 (6) – Nov 1, 2013
* The posterior surgical correction of congenital kyphosis and kyphoscoliosis: 23 cases with minimum 2 years follow-up; Yan, Zeng; Chongqing, Chen; Qiang, Qi; Zhaoqing, Guo; Weishi, Li; European Spine Journal, Volume 22 (2) – Feb 1, 2013
* Complication rate in adult deformity surgical treatment: safety of the posterior osteotomies; Giovanni, Maida; Francesco, Lucero; Francesco, Gallozzi; Marcello, Ferraro; Maggi, Bernardo; European Spine Journal, Volume 24 (7) – Nov 1, 2015
* Vertebral Column Resection for the Treatment of Severe Spinal Deformity; Lawrence, Lenke; Brenda, Sides; Linda, Koester; Marsha, Hensley; Kathy, Blanke; Clinical Orthopaedics and Related Research, Volume 468 (3) – Mar 1, 2010
* Péréon Y, Bernard JM, Fayet G, Delécrin J, Passuti N, Guihéneuc P (1998). "Usefulness of neurogenic motor evoked potentials for spinal cord monitoring: findings in 112 consecutive patients undergoing surgery for spinal deformity". Electroencephalogr Clin Neurophysiol. 108: 17–23. doi:10.1016/s0168-5597(97)00056-7. PMID 9474058.
## External links[edit]
Classification
D
* ICD-10: M41, Q67.5
* ICD-9-CM: 737.30, 756.19
Media related to kyphoscoliosis at Wikimedia Commons
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Kyphoscoliosis
|
c0575158
| 8,664 |
wikipedia
|
https://en.wikipedia.org/wiki/Kyphoscoliosis
| 2021-01-18T18:48:33 |
{"umls": ["C0575158"], "icd-9": ["737.30", "756.19"], "icd-10": ["M41", "Q67.5"], "wikidata": ["Q2856379"]}
|
MORM syndrome
Other namesIntellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome
The image shows chromosome 9. The location of the INPP5E gene has been identified in this image and is relevant as it has been associated with MORM syndrome. The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3.
MORM syndrome is an autosomal recessive congenital disorder[1] characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis".[1] The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders.[1][2] MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age.[1] The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder.
The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans.[3] Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905.[4]
## Contents
* 1 Presentation
* 2 Genetic
* 3 Diagnosis
* 4 Management
* 5 References
* 6 External links
## Presentation[edit]
For individuals with MORM syndrome, symptoms do not appear until about one year of age.[1] From conception to birth, individuals with MORM syndrome appear asymptotic, with no abnormal characteristics.[1] Vision is negatively affected within the first year of life, particularly night vision.[1] Individuals with MORM syndrome experience decreased visual acuity, meaning their ability to see distinct sharp lines decreases.[1][5] Vision quality continues to deteriorate until age three.[1] Any further reduction in vision acuity is not observed until the individual is between the ages thirty to forty.[1] Delayed sentence processing and intellectual disability is associated with individuals with MORM syndrome, primarily observed at age four.[1] Individuals continue to develop and grow until they are five to twelve years old. During this age bracket, truncal obesity can develop,[1] characterized by the buildup of fat around one's trunk or torso as opposed to the person's extremities.[6] Males enter puberty at around age twelve and develop normally, except for their penis, which will remain at the prepubescent size, resulting in a micropenis.[1] Both the life span and fertility of individuals with MORM syndrome is unclear .[1]
## Genetic[edit]
MORM syndrome is associated with the gene INPP5E.[4] INPP5E is a gene whose function is not well understood.[7] It is hypothesized to play a role in primary cilia stability.[7] A homozygous mutation in the INPP5E gene, on chromosome 9q34, is the cause for MORM syndrome.[4] The mutation causes a homozygous transition in the last exon of the INPP5E gene.[8] This transition results in the DNA bases changing from a cytosine residue to a thymine residue.[8] The resulting protein will then have an altered amino acid sequence. In unaffected individuals this specific codon (region of DNA bases) is supposed to code for the amino acid glutamine.[8] In cases of MORM syndrome this codon codes for a termination sequence, which prematurely stops the production of the protein.[8] In unaffected individuals the protein is evenly disbursed throughout the cilia axoneme, which stabilizes the cilia, which are antenna like structures which protrude from the extracellular surface of the cell.[7][3] They play an importatn role in extracellular signalling/communication between cells and their environment.[3] When the INPP5E gene is mutated, the protein is damaged and is unable to spread out along the cilia axoneme or interact with other stabilizing proteins.[8] This inability to stabilize one's cilia axoneme results in MORM syndrome.[8] The exact mechanism as to how the mutation in the INPP5E gene causes cilia instability is still not well understood.[3]
## Diagnosis[edit]
MORM syndrome is a genetic disorder obtained through inheritance.[4] The main method for testing individuals showing symptoms of MORM syndrome is sequence analysis of the entire coding region.[9] When performing a sequence analysis of the entire coding region the gene INPP5E is targeted.[9] Sequence analysis is the biotechnological process in which the structure and sequence of DNA, RNA, or protein sequence is determined through the use of technology. This sequence can be analyzed to determine mutations or abnormalities in that particular region. When testing for MORM syndrome, sequence analysis of the region of the genome which contains the gene INPP5E is targeted and examined to look for mutations.[9]
## Management[edit]
This section is empty. You can help by adding to it. (July 2017)
## References[edit]
1. ^ a b c d e f g h i j k l m n Hampshire, D. J.; Ayub, M.; Springell, K.; Roberts, E.; Jafri, H.; Rashid, Y.; Bond, J.; Riley, J. H.; Woods, C. G. (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (PDF). European Journal of Human Genetics. 14 (5): 543–548. doi:10.1038/sj.ejhg.5201577. PMID 16493448. S2CID 20931689.
2. ^ Kniffin, Cassandra. "#610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS". OMIM. Retrieved 15 October 2015.
3. ^ a b c d Jacoby M, Cox JJ, Gayral S, et al. (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse" (PDF). Nat. Genet. 41 (9): 1027–31. doi:10.1038/ng.427. PMID 19668215. S2CID 5249668.
4. ^ a b c d Hartz, Patricia. "*613037 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E". OMIM. Retrieved 15 October 2015.
5. ^ "Visual Acuity". American Optometric Association. Retrieved 3 December 2015.
6. ^ Romero-Corral, Abel; Caples, Sean; Lopez-Jimenez, Francisco; Somers, Virend (2010). "Interactions Between Obesity and Obstructive Sleep Apnea". Chest. 137 (3): 711–719. doi:10.1378/chest.09-0360. PMC 3021364. PMID 20202954.
7. ^ a b c Plotnikova, Olga; Seo, Seongjin; Cottle, Denny; Conduit, Sarah; Hakim, Sandra; Dyson, Jennifer; Mitchell, Christina; Smyth, Ian (2015). "INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability" (PDF). Journal of Cell Science. 128 (2): 364–372. doi:10.1242/jcs.161323. PMC 4294778. PMID 25395580. Retrieved 15 October 2015.
8. ^ a b c d e f Hartz, Patricia. "Inositol Polyphosphate-5-Phosphatase, 72-KD; INPP5E". OMIM. Johns Hopkins University. Retrieved 3 December 2015.
9. ^ a b c "MORM syndrome". Genetic Testing Registry. National Centre for Biotechnological Information. Retrieved 3 November 2015.
## External links[edit]
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
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*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
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*[SSRIs]: Selective serotonin reuptake inhibitors
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*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
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*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
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*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
MORM syndrome
|
c1857802
| 8,665 |
wikipedia
|
https://en.wikipedia.org/wiki/MORM_syndrome
| 2021-01-18T18:44:23 |
{"gard": ["10121"], "mesh": ["C536984"], "umls": ["C1857802"], "orphanet": ["75858"], "wikidata": ["Q6717114"]}
|
This article is about the disease found in humans. For the disease that affects mustelids, see Aleutian disease.
Plasmacytosis
Plasmacytosis is a condition in which there is an unusually large proportion of plasma cells in tissues, exudates, or blood.[1]:743 Plasmacytosis may be divided into two types—cutaneous and systemic—both of which have identical skin findings.[1]:743
Patients with plasmacytosis have been predominantly found to have lung infections (pneumonia, tuberculosis, abscess) whereas multiple myeloma is rarely found.[2]
## See also[edit]
* Cutaneous B-cell lymphoma
* Multiple myeloma
* Plasmacytoma
* Skin lesion
## References[edit]
1. ^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Callaway, MW; Braud, EL; McDonald, CR; Paine, CJ; Eichner, ER (Feb 1977). "Clinical correlates of bone marrow plasmacytosis". Southern Medical Journal. 70 (2): 138–41, 152. doi:10.1097/00007611-197702000-00004. PMID 841386. S2CID 30558250.
## External links[edit]
Classification
D
* ICD-10-CM: D72.822
* ICD-9-CM: 288.64
* SNOMED CT: 37465004
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Plasmacytosis
|
c0085663
| 8,666 |
wikipedia
|
https://en.wikipedia.org/wiki/Plasmacytosis
| 2021-01-18T18:53:25 |
{"icd-9": ["288.64"], "wikidata": ["Q7201798"]}
|
Not to be confused with Palpable purpura.
Erythema anulare centrifugum
Other namesDeep gyrate erythema, Erythema perstans, Palpable migrating erythema and SSuperficial gyrate erythema[1]
SpecialtyDermatology
Erythema annulare centrifugum (EAC), is a descriptive term for a class of skin lesion[2] presenting redness (erythema) in a ring form (anulare) that spreads from a center (centrifugum). It was first described by Darier in 1916.[3][4][5] Many different terms have been used to classify these types of lesions and it is still controversial on what exactly defines EAC. Some of the types include annular erythema (deep and superficial), erythema perstans, erythema gyratum perstans, erythema gyratum repens, darier erythema (deep gyrate erythema) and erythema figuratum perstans.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Treatment
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Symptoms[edit]
Occurring at any age these lesions appear as raised pink-red ring or bulls-eye marks. They range in size from 0.5–8 cm (0.20–3.15 in). The lesions sometimes increase size and spread over time and may not be complete rings but irregular shapes. Distribution is usually on the thighs and legs but can also appear on the upper extremities, areas not exposed to sunlight, trunk or face. Currently EAC is not known to be contagious, but as many cases are incorrectly diagnosed as EAC, it is difficult to be certain.
## Causes[edit]
Often no specific cause for the eruptions is found. However, it is sometimes linked to underlying diseases and conditions such as:
* Food (including blue cheese or tomatoes).
* Contact Dermatitis (i.e. cleaning agents, fabric softeners, etc.)
* Fungal, Bacterial and Viral infections such as sinusitis, tuberculosis, candidiasis or tinea.
* Drugs including finasteride,[6] etizolam (and benzodiazepines), chloroquine, hydroxychloroquine, oestrogen, penicillin and amitriptyline.
* Cancer (especially the type known as erythema gyratum perstans, in which there are concentric and whirling rings).
* Primary biliary cirrhosis.
* Graves disease.
* Appendicitis.
* Lupus[7]
* Pregnancy (EAC usually disappears/stops soon after delivery of baby).
* Hormone (Contraceptive Pill, Stress, Hormone Drugs)
* Lyme disease
## Diagnosis[edit]
Micrograph of erythema annulare centrifugum, showing a moderately intense superficial perivascular dermal lymphohistiocytic infiltrate with rare eosinophils, edema of papillary dermis, hyperkeratosis and focal epidermal spongiosis.
A skin biopsy can be performed to test for EAC; tests should be performed to rule out other possible diseases such as: pityriasis rosea, tinea corporis, psoriasis, nummular eczema, atopic dermatitis, drug reaction, erythema migrans and other rashes.
### Differential diagnosis[edit]
* Sarcoidosis
* Fungal infection
* Lupus erythematosus
## Treatment[edit]
No treatment is usually needed as they usually go away anywhere from months to years. The lesions may last from anywhere between 4 weeks to 34 years with an average duration of 11 months. If caused by an underlying disease or malignancy, then treating and removing the disease or malignancy will stop the lesions. It usually doesn't require treatment, but topical corticosteroids may be helpful[8] in reducing redness, swelling and itchiness.
Some supported and not supported methods of having an effect on EAC include:
* Photosensitive so it can be moved/reduced with appropriate sunlight.
* Vitamin D
* Immune system - hence it will increase in size/number when the immune system is low or overloaded.
* Hormone Drugs
* Disulone
* Stress reduction
* Topical calcipotriol - a topical vitamin D derivative has been known to be beneficial
## Epidemiology[edit]
It is very rare and estimated to affect 1 in 100,000 per year.[citation needed] Because of its rarity the documentation, cases and information are sparse and not a huge amount is known for certain, meaning that EAC could actually be a set of many un-classified skin lesions. It is known to occur at all ages and all genders equally.[citation needed] Some articles state that women are more likely to be affected than men.[citation needed]
## See also[edit]
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 277. ISBN 978-1-4160-2999-1.
3. ^ synd/488 at Who Named It?
4. ^ J. Darier. De l’érythème annulaire centrifuge (érythème papulo-circineé migrateuse et chronique) et de quelques éruptions analogues. Annales de dermatologie et de syphilographie, Paris, 1916-1917, 5: 57-58.
5. ^ Bressler GS, Jones RE (May 1981). "Erythema annulare centrifugum". J. Am. Acad. Dermatol. 4 (5): 597–602. doi:10.1016/S0190-9622(81)70063-X. PMID 7240469.
6. ^ Al Hammadi A, Asai Y, Patt ML, Sasseville D (April 2007). "Erythema annulare centrifugum secondary to treatment with finasteride". J Drugs Dermatol. 6 (4): 460–3. PMID 17668547.
7. ^ Weyers W, Diaz-Cascajo C, Weyers I (December 2003). "Erythema annulare centrifugum: results of a clinicopathologic study of 73 patients". Am J Dermatopathol. 25 (6): 451–62. doi:10.1097/00000372-200312000-00001. PMID 14631185.
8. ^ Enta T (November 1996). "Dermacase. Erythema annulare centrifugum". Can Fam Physician. 42: 2148, 2151. PMC 2146938. PMID 8939316.
## External links[edit]
Classification
D
* ICD-10: L53.1
* ICD-9-CM: 695.0
* DiseasesDB: 29798
External resources
* eMedicine: derm/131
* Patient UK: Erythema annulare centrifugum
* v
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* panniculitis (Erythema nodosum)
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* Erythema gyratum repens
Other erythema
* Necrolytic migratory erythema
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* Erythroderma
* Palmar erythema
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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
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*[COL]: Colombia
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*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
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*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Erythema annulare centrifugum
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c0263358
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wikipedia
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https://en.wikipedia.org/wiki/Erythema_annulare_centrifugum
| 2021-01-18T18:49:07 |
{"umls": ["C0263358"], "icd-10": ["L53.1"], "wikidata": ["Q17148651"]}
|
An HIV/AIDS rights demonstration held at Taipei City Hall in 2005.
Taiwan's epidemic of HIV/AIDS began with the first case reported in December 1984. On 17 December 1990 the government promulgated the AIDS Prevention and Control Act (Chinese: 後天免疫缺乏症候群防治條例). On 11 July 2007, the AIDS Prevention and Control Act was renamed the HIV Infection Control and Patient Rights Protection Act (Chinese: 人類免疫缺乏病毒傳染防治及感染者權益保障條例).[1]
As of March 2016, there are 31,620 reported cases of Taiwanese testing positive, and 1,020 foreigners testing positive.[2] Until January 2015, the original HIV Infection Control and Patient Rights Protection Act required foreigners who tested positive to be deported, therefore most of the reported foreigners are no longer in Taiwan. This policy was repealed in January 2015, allowing HIV/AIDS infected foreign individuals to remain in Taiwan.
HIV/AIDS patients' medical treatment costs are covered by Taiwan's National Health Insurance (NHI).[1]
## Contents
* 1 Epidemiology
* 2 HIV-1 epidemic
* 3 Monitoring
* 4 Control
* 5 Health Care
* 5.1 NHI Coverage
* 5.2 Organ Transplants
* 6 Responses
* 7 Society and Culture
* 7.1 Stigma
* 7.2 Economic Impact
* 8 Infected foreigners and human rights
* 8.1 1990 AIDS Prevention and Control Act
* 8.2 Amendments
* 8.3 Deportation Requirement Lifted
* 9 See also
* 10 References
* 11 Sources
* 12 External links
## Epidemiology[edit]
Reported HIV/AIDS cases in Taiwan from 1984 to 2010
The first reported case was reported in December 1984 on a foreign transit traveler. The first local infection was reported in February 1986.
According to the statistics of Taiwan's Centers for Disease Control, as of 6 February 2014, there were 26,646 cases of Taiwanese becoming infected with HIV.[3]
Of all cases:
* 93.39% are male, 6.61% female
* 72.24% are 20–49 years old, 20.08% are 15–24 years old
Another 893 foreigners have tested positive, most of whom have been deported by the Taiwan government before the policy change. The CDC has not published an analysis of foreigners who tested positive.
The ratio of patients of drug users increases rapidly. Since 1984, incidence of infections through sexual contacts had accounted for 90% of all cases for most of time. But in 2005, drug using patients accounted for more than 50%. To prevent the disease from spreading to general population rapidly, the CDC announced the "Harm Reduction Pilot Projects for IDUs". The program includes expansion of the existing education and rehabilitation network, and the establishment of a harm reduction program unprecedented to the country.[1]
## HIV-1 epidemic[edit]
Taiwan is entering a new and dangerous phase of its HIV-1/AIDS epidemic, which by far accounts for the majority of its total number of HIV infection cases.
Cumulative number of drug use HIV/AIDS cases in Taiwan from 1988-2006
By the end of 2006, 13702 individuals (including 599 foreigners) had been reported as infected with HIV-1 to the Centers for Disease Control of Taiwan.[4] In 2003, HIV-1 rates in first-time blood donors, military conscripts, and pregnant women were measured at 5.2, 57.0, and 12.0 per 100 000, respectively.[4] Data from that year indicated HIV-1 rates of 0.09% for intravenous drug users, 0.2% for female sex workers, 1.9% for patients with sexually transmitted infections, and 6.7% for men who have sex with men in saunas or bath houses.[4] Since then, the number of people living with HIV-1/AIDS in Taiwan has jumped sharply, from an 11% increase in 2003 to a 77% increase in 2004 and a 123% increase in 2005.[4]
However, after the implementation of a harm-reduction program, a 10% decrease was seen in 2006. The current estimated number of HIV-1/AIDS cases in Taiwan is about 30000, which suggests that the infection rate there could be greater than that in China: 30000 per 23 million (1/767) compared with 650,000 per 1.3 billion (1/2000).[5]
A risk-factor analysis of reported cases showed that the proportion of intravenous drug users infected with HIV-1 increased from 1.7% (13/772) in 2002, to 8.1% (70/862) in 2003, to 41.3% (628/1520) in 2004, to 72.4% (2461/3399) in 2005, and dropped to 68.6% (2017/2974) in 2006.[4] The most important risk factor for Taiwanese intravenous drug users is needle-sharing, followed by the sharing of heroin diluents.[6] A molecular epidemiological study showed that more than 95% of intravenous drug users with newly diagnosed HIV-1 in 2004 and 2005 were infected with CRF07_BC, a circulating recombinant form of subtypes B' and C.[7][8] Previously, several studies suggested that CRF07_BC originated in China's Yunnan province as a mix of subtype B' from Thailand and subtype C from India. The subtype is believed to have moved to Xinjiang in China's northwest along a major heroin-trafficking route.[9]
Of the 60,000–100,000 injecting drug users in Taiwan, 10–15% may be infected with CRF07_BC. If so, they probably represent the largest group of such intravenous drug users in northeast Asia. The circulating recombinant form might have followed a separate drug-trafficking route to Taiwan from Yunnan via southeast China, Guangxi, and Hong Kong.[10][11][12] There have been enormous increases in the amount of heroin smuggled into Taiwan and in the number of intravenous drug users since 2002, when five intravenous drug users from southern Taiwan were diagnosed as the country's first HIV-1 seropositive cases infected with CRF07_BC.[8] Even though the Hong Kong authorities identified three cases of CRF07_BC infection in 2001, a serious outbreak in that city's population of intravenous drug users is believed to have been blocked by a methadone maintenance program.[12]
## Monitoring[edit]
Close monitoring of emerging HIV-1 subtypes related to intravenous drug use and implementing harm-reduction programs has been and continue to be vital in preventing similar outbreaks in other populations of intravenous drug users in neighboring countries. In 2005, Alex Wodak, Gerry Stimson, and other harm-reduction experts were invited to Taiwan to share their experiences with government officials, medical field-workers, and public-health professionals. After careful study of harm-reduction programs in place in Hong Kong and Australia, a pilot program was started in four of Taiwan's 23 administrative areas in September, 2005. This program has since been expanded nationally, and consists of 427 service sites for syringe exchange plus centres for methadone maintenance therapy. Free methadone is provided to HIV-1-infected intravenous drug users while HIV-1 seronegative intravenous drug users have to pay about US$1600 a year. The Taiwan Centers for Disease Control plans to provide methadone maintenance to intravenous drug users in prisons, and the country's Bureau of Controlled Drugs will start producing methadone to assist in the government's commitment to providing methadone maintenance to 30,000 intravenous drug users by 2009.
All parts of Asia are reporting rising numbers of HIV-positive and AIDS patients in men who have sex with men. This is primarily because policy targets these groups of people for testing. Current Taiwanese HIV testing centers receive higher funding when they report testing homosexual men than any other gender or sexuality. This is due to the faulty belief that gay men are at higher risk for HIV contraction. Modern statistics indicate that heterosexual couples are at higher risk of contraction, in particular because they do not test as often as the homosexual population and are not targeted by country policy. What these skewed statistics show is that in Taiwan, HIV-1 infection rates in men who have sex with men in gay saunas in different cities currently range from 5.2% to 15.8%.[13][14] The same population has high rates of syphilis, 8.1–13.8%, depending on the city.[13][14] Taiwanese male homosexual and bisexual HIV-1/AIDS patients have also been diagnosed with significantly higher rates of syphilis than have heterosexual patients.[15] Furthermore, the percentage of homosexual or bisexual HIV-1/AIDS patients under the age of 20 years is significantly higher than that of heterosexual patients, 3.0% versus 1.7%.[16] One of the primary factors that leads to HIV risk is the lack of accurate information on risky behaviors that lead to HIV contraction increases the risk of contracting HIV and other sexually transmitted infections.
Taiwan's clinical spectrum of AIDS patients is similar to those reported in other developed countries, but significant differences have been noted in incidences of opportunistic infections. For example, the incidence of tuberculosis in patients with advanced illness is high in Taiwan (24.6%) and the rate of endemic fungal (Penicillium marneffei) infections is increasing.[17][18] On the positive side, the effort by the Government of the Republic of China since April, 1997, to distribute highly-active antiretroviral therapy for free[19] has resulted in dramatic decreases in morbidity and mortality from HIV-1 infection.[20]
Because of their high background prevalence, HBV and HCV coinfections with HIV are particularly important in Asian countries in terms of HIV transmission via injecting drug use.[21][22] In a survey of 459 intravenous drug users infected with HIV-1, one of us (Y-MAC) found that 456 (99.6%) also had anti-HCV antibodies and 77 (16.8%) were seropositive for HBsAg. The long-term impact of hepatitis coinfections on HIV and on morbidity and mortality from liver disease requires monitoring.
## Control[edit]
By the end of 2006, 19 confirmed cases of vertical HIV-1 transmission have been reported to the Taiwan Centers for Disease Control.[4] In January, 2005, the agency started a national program focused on prevention of mother-to-child transmission, and five cases of vertical transmission were reported in 2005. By June, 2006, the screening rate had reached 97·4%, and 47 of 338 452 pregnant women (13·9 per 100 000) tested in Taiwan have been identified as having HIV-1 infections and have received antiretroviral therapy to prevent mother-to-child transmission. To increase the participation rate, there is discussion of changing the voluntary counselling and testing strategy from opt-in to opt-out.
## Health Care[edit]
HIV/AIDS patients' medical treatment costs are covered by Taiwan's National Health Insurance (NHI).[1]
### NHI Coverage[edit]
In 2011, Taiwan's CDC was considering switching from providing HIV/AIDS treatment for free to a subsidized model. The cost of treatment for each AIDS patient in the country is estimated at NT$30,000 (US$930) per month, which is equivalent to the average monthly salary of an office worker.[23] In 2013, CDC Deputy Director Chuang Jen-hsiang (莊仁祥) said that the rise in the rate of HIV/AIDS cases was outstripping public funds, and that the NHI was NT$600 million (US$2 million) in debt due to treating HIV/AIDS patients. Chuang added that the Ministry of Health and Welfare was still considering a plan to reducing coverage for HIV-positive Taiwan nationals from their current full coverage, in addition to requiring foreign nationals to pay in full for their treatment.[24]
Other STIs and illnesses were covered under National Health Insurance during this time of debate. Criticism of reducing coverage and expecting HIV/AIDS-related treatments to be paid by the individuals, included that it further promoted the faulty idea that HIV/AIDS contraction is the fault of the individual.[citation needed]
### Organ Transplants[edit]
Currently, HIV/AIDS patients are eligible for organ transplants. Plans exist to allow HIV/AIDS positive patients to donate organs to other HIV/AIDS positive patients by the end of 2016. Until March 2016, HIV/AIDS patients were "ineligible to receive organ transplants, including transplants of the heart, lungs, liver, kidney, pancreas, cornea and small intestines."[25]
## Responses[edit]
Several positive responses to the HIV/AIDS epidemic in Taiwan should be mentioned. Since 1992, 16 non-governmental organizations registered or established in Taiwan have provided shelter, care, counselling, anonymous testing, and AIDS education. One in particular, the People Living with HIV/AIDS Rights' Advocacy Association, has been addressing human rights issues related to HIV/AIDS since 1997. However, most such organizations have their headquarters and facilities in northern Taiwan, and two-thirds of the country's intravenous drug users live in central and southern parts. In addition, many social workers employed by non-governmental organizations are still unfamiliar with issues related to drug abuse and inexperienced in interacting with intravenous drug users. There is a clear and immediate need for counselling workshops for medical staff and social workers. In the long-term, there is need for more funding for AIDS research, especially vaccine development.[citation needed]
## Society and Culture[edit]
### Stigma[edit]
While Article 6-1 of original 1990 AIDS Prevention and Control Act stated that "HIV-infected individuals shall not be discriminated against, nor shall they be deprived of their rights," a lack of specifying what those individuals' rights were left many loopholes open in the interpretation of the Act. In addition, the Japanese-era 1944 Communicable Disease Control Act contained articles that could be used to circumvent the protections intended by the 1990 AIDS Prevention and Control Act, particularly Article 35 and Article 40. Some institutions would cite the 1944 Act as a legal defense for discriminatory practices, including a school which turned away a student.[26]
> When communicable diseases occur or are expected to occur, local competent authorities may impose restrictions, prohibitions or other adequate measures on farming, husbandry, swimming or drinking water of certain area under their jurisdiction; when necessary, they may request various central enterprise competent authorities for assistance.[27]
>
> — Ministry of Health and Welfare, Article 35, Communicable Disease Control Act
> When medical personnel other than physicians, in the course of their duties, detect patients, suspected patients or the remains that they consider to have been affected by communicable diseases, they shall immediately report such cases to physicians or to competent authorities of the locality in accordance with regulations of Paragraph 2 of the preceding Article. Medical institutions shall assign a full-time person who is responsible for the supervision of subordinate medical personnel to ensure the regulations of the preceding Paragraph or the preceding Article are followed.[28]
>
> — Ministry of Health and Welfare, Article 40, Communicable Disease Control Act
As the HIV-1 infection threat increases, there are many signs of persistent denial and resurgent discrimination in Taiwan. Several important issues need to be addressed: sentinel surveillance of female sex workers, social welfare institutions and housing for homeless people with HIV/AIDS, financial support for non-governmental organizations, training and re-education programs aimed at changing the attitudes of medical staff toward people with HIV/AIDS.[citation needed]
### Economic Impact[edit]
The original 1990 AIDS Prevention and Control Act did not explicitly protect the right to work and had no penalties for refusing employment to HIV-positive people. Work discrimination in Taiwan became common, with even some state-run enterprises and government agencies requiring mandatory HIV blood tests. Examples of discrimination include the discharging of a Taipei police officer in 2001, the lay-ing off a healthcare worker in 2002, and a Taipei Metro driver who came under pressure and gave up his job.[29]
## Infected foreigners and human rights[edit]
Identification of HIV/AIDS-positive foreigners usually occurs during mandatory blood test for teachers, government agencies workers and some state-run enterprises employees. There are no penalties for enterprises refusing to hire a foreign person carrying HIV thus allowing work and employment discrimination.[30]
### 1990 AIDS Prevention and Control Act[edit]
In 1990, the government of Taiwan promulgated the AIDS Prevention and Control Act (後天免疫缺乏症候群防治條例). Under the AIDS Prevention and Control Act, foreigners who tested positive for HIV were required to be deported. The AIDS Prevention and Control Act was renamed the HIV Infection Control and Patient Rights Protection Act (人類免疫缺乏病毒傳染防治及感染者權益保障條例) on July 11, 2007,[1] and will be referred to as such hereafter.
The "original HIV Infection Control and Patient Rights Protection Act allowed the government to order HIV tests on foreign residents in Taiwan and short-term visitors staying in the country for three months or longer. Those whose tests came back positive were required to be deported."[31] During the process of deportation, "their visas [were] annulled and their names [were] permanently listed in official records, resulting in automatic refusal of any future application for an entry visa."[32] Foreigners infected by their Taiwanese spouse or from medical procedures conducted in Taiwan could appeal to be taken off of the black list, but only from abroad after being deported.
The strict requirements for appeal were laid out in Article 20 of the HIV Infection Control and Patient Rights Protection Act. As summarized by the Taipei Times, "foreign nationals who were infected by spouses who are Taiwanese nationals, or who were infected while receiving medical care in Taiwan, and who have relatives within two degrees of kinship who have household registration and current residency in Taiwan may ask those relatives to prepare a written petition — only once — within six months of their deportation."[33] Petitions appear to have been infrequently approved. Even in cases where both spouses tested positive for HIV/AIDS, petitions could fail if the couple was unable to prove that it was the Taiwanese spouse who infected the foreign spouse.[1] In 2004, the secretary-general of the Persons With HIV/AIDS Rights Advocacy Association of Taiwan reported that the association had "filed applications on behalf of 24 couples to prevent a spouse's deportation. All 24 applications were turned down."[32]
No other foreigners, not even those with permanent residency or victims of rape / human trafficking, were allowed to appeal.
### Amendments[edit]
The AIDS Prevention and Control Act was amended six times before it was renamed the HIV Infection Control and Patient Rights Protection Act in 2007. After its renaming, the act was further amended.[1]
In 2004, Taiwan's Department of Health proposed "a revision that would allow foreign HIV carriers to stay in Taiwan for less than 14 days, without restricting the number of times they can apply."[34] The revision came under criticism by patient groups and health experts as being only a small change that did not address the central issues of human rights and the lack of evidence showing a link between deportation and decreasing the HIV infection rate.[34] Eventually, the revised Article 18 of the HIV Infection Control and Patient Rights Protection Act allowed deported foreign nationals to apply, once per quarter, for a short-term visa that lasted no longer than 14 days.[35]
### Deportation Requirement Lifted[edit]
On January 20, 2015, the Legislative Yuan passed an amendment that repealed the requirement for foreign nationals diagnosed with HIV/AIDS to be subject to deportation.[36] However, foreign residents are subject to additional barriers from treatment. In addition to being a legal resident, joining the NHI after staying in Taiwan for a minimum of six months, and having their HIV status confirmed by a hospital, foreign residents are required to pay the full costs of their HIV/AIDS treatment for two years, after which the costs will be covered by the NHI.
The CDC estimates that two years of treatment costs approximately US$21,100.[37]
## See also[edit]
* Healthcare in Taiwan
* Ministry of Health and Welfare (Taiwan)
* Centers for Disease Control (Taiwan)
* Epidemiology of HIV/AIDS
* HIV/AIDS in Asia
## References[edit]
1. ^ a b c d e f Centers for Disease Control, R.O.C. (Taiwan), "Draft amendments to HIV Infection Control and Patient Rights Protection Act approved to address human rights", Centers for Disease Control, R.O.C. (Taiwan), February 5, 2015. 2016-05-03.
2. ^ "HIV月報105-03(更新)" (PDF). Centers for Disease Control, R.O.C (Taiwan). Retrieved 2 May 2016.
3. ^ https://www.cdc.gov.tw/info.aspx?treeid=1f07e8862ba550cf&nowtreeid=6c5ea6d932836f74&tid=65ED215C50763D72
4. ^ a b c d e f Centers for Disease Control, ROC (Taiwan). HIV/AIDS data. 2006 (accessed Jan 30, 2007).
5. ^ Ministry of HealthPeople's Republic of ChinaJoint United Nations Programme on HIV/AIDSWorld Health Organization. 2005 update on the HIV/AIDS epidemic and response in China. Jan 24, 2005: (accessed Jan 23, 2007).
6. ^ Chen YM. Molecular epidemiology of HIV-1 infection among injecting drug users in Taiwan. 2005 Taipei International Conference on Drug Control and Addition Treatment, Taipei, Taiwan, Nov 22–24, 2005.
7. ^ Chen YM, Lan YC, Lai SF, Yang JY, Tsai SF, Kuo SH. HIV-1 CRF07_BC infections, injecting drug users, Taiwan. Emerg Infect Dis 2006; 12: 703-705.
8. ^ a b Lin YT, Lan YC, Chen YJ, et al. Molecular epidemiology of HIV-1 infection and full-length genomic analysis of HIV-1 circulating recombinant form 07_BC strains from injecting drug users in Taiwan. J Infect Dis (in press).
9. ^ Su L, Graf M, Zhang Y, et al. Characterization of a virtually full-length human immunodeficiency virus type 1 genome of a prevalent intersubtype (C/B') recombinant strain in China. J Virol 2000; 74: 11367-11376.
10. ^ Piyasirisilp S, McCutchan FE, Carr JK, et al. A recent outbreak of human immunodeficiency virus type 1 infection in southern China was initiated by two highly homogeneous, geographically separated strains, circulating recombinant form AE and a novel BC recombinant. J Virol 2000; 74: 11286-11295.
11. ^ Cohen J. Asia and Africa: on different trajectories?. Science 2004; 304: 1932-1938.
12. ^ a b Lim WL, Xing H, Wong KH, et al. The lack of an epidemiological link between HIV type 1 infections in Hong Kong and Mainland China. AIDS Res Hum Retroviruses 2004; 20: 259-262.
13. ^ a b Lai SF, Hong CP, Lan YC, et al. Molecular epidemiology of HIV-1 in men who have sex with men from gay saunas in Taiwan from 2000 to 2003. XV International AIDS Conference, Bangkok, Thailand, July 11–16, 2004: (accessed Jan 23, 2007).
14. ^ a b Ko NY, Lee HC, Chang JL, et al. Prevalence of human immunodeficiency virus and sexually transmitted infections and risky sexual behaviors among men visiting gay bathhouses in Taiwan. Sex Transm Dis 2006; 33: 467-473.
15. ^ Chen YM, Huang KL, Jen I, et al. Temporal trends and molecular epidemiology of HIV-1 infection in Taiwan from 1988 to 1998. J Acquir Immune Defic Syndr Hum Retrovirol 2002; 26: 274-282.
16. ^ Chen YM, Huang KL, Jen I, et al. Again, these statistics reflect policy and the groups of people that policy targets. Temporal trends and molecular epidemiology of HIV-1 infection in Taiwan from 1988 to 1998. J Acquir Immune Defic Syndr Hum Retrovirol 2002; 26: 274-282.
17. ^ Hsieh SM, Hung CC, Chen MY, Hsueh PR, Chang SC, Luh KT. Clinical manifestations of tuberculosis in patients with advanced HIV-1 infection in Taiwan. J Formos Med Assoc 1996; 95: 923-928.
18. ^ Hsueh PR, Teng LJ, Hung CC, Chen YG, Luh KT, Ho SW. Molecular evidence on strain dissemination of Penicillium marneffei: an emerging pathogen in Taiwan. J Infect Dis 2000; 181: 1706-1712.
19. ^ Fang CT, Hsu SM, Twu SJ, et al. Decreased HIV transmission after a policy of providing free access to highly active antiretroviral therapy in Taiwan. J Infect Dis 2004; 190: 879-885.
20. ^ Hung CC, Chen MY, Hsieh SM, Sheng WH, Chang SC. Clinical spectrum, morbidity and mortality of acquired immunodeficiency syndrome in Taiwan: a 5-year prospective study. J Acquir Immune Defic Syndr Hum Retrovirol 2000; 24: 378-385.
21. ^ Alter MJ. Epidemiology of viral hepatitis and HIV co-infection. J Hepatol 2006; 44: S6-S9.
22. ^ Law WP, Dore GJ, Duncombe CJ, et al. Risk of severe hepatotoxicity associated with antiretroviral therapy in the HIV-NAT Cohort, Thailand, 1996–2001. AIDS 2003; 17: 2191-2199.
23. ^ Staff Writer, with CNA, "Taiwan’s HIV infection rate rising: group", Taipei Times, December 02, 2011. Retrieved 2016-05-04.
24. ^ Wei Yi-chia and Jake Chung, "HIV/AIDS law changes may stop deportations", Taipei Times, October 20, 2013. Retrieved 2016-05-04.
25. ^ Stephanie Chao, "HIV/AIDS patients eligible for transplants: MHW", The China Post, February 5, 2016. Retrieved 2016-05-04.
26. ^ Vincent Rollet, "Taiwanese NGOs and HIV/Aids: From the National to the Transnational", China Perspectives, July-August 2005. Retrieved 2016-05-03.
27. ^ Ministry of Health and Welfare, "Communicable Disease Control Act ", Laws and Regulations Database of the Republic of China, December 30, 2015. Retrieved 2016-05-03.
28. ^ Ministry of Health and Welfare, "Communicable Disease Control Act ", Laws and Regulations Database of the Republic of China, December 30, 2015. Retrieved 2016-05-03.
29. ^ Wang Hsiao-wen, "Foreign HIV victims face a quiet struggle to work", The Taipei Times, December 19, 2004. Retrieved 2016-05-03.
30. ^ Wang Hsiao-wen, "Foreign HIV victims face a quiet struggle to work", The Taipei Times, December 19, 2004. Retrieved 2016-05-03.
31. ^ Chen Wei-ting and Y.F. Low, "Taiwan lifts deportation requirement for foreigners with HIV/AIDS", Focus Taiwan News Agency, January 20, 2015. Retrieved 2016-05-02.
32. ^ a b Wang Hsiao-wen, "HIV deportations reconsidered", The Taipei Times, November 09, 2004. Retrieved 2016-05-03.
33. ^ Wei Yi-chia and Jake Chung, "HIV/AIDS law changes may stop deportations", The Taipei Times, October 20, 2013 . Retrieved 2016-05-02.
34. ^ a b Wang Hsiao-wen, "HIV deportations reconsidered", The Taipei Times, November 09, 2004. Retrieved 2016-05-03.
35. ^ Wei Yi-chia and Jake Chung, "HIV/AIDS law changes may stop deportations", The Taipei Times, October 20, 2013. Retrieved 2016-05-04.
36. ^ http://focustaiwan.tw/news/asoc/201501200010.aspx
37. ^ Lee, I-Chia (7 February 2017). "CDC dispels rumor of easy health coverage for HIV-positive foreigners". Taipei Times. Retrieved 15 February 2020.
## Sources[edit]
* (in Mandarin Chinese)^ 中央健康保險局公文
* (in Mandarin Chinese)^ 疾病管制局 HIV/AIDS統計月報表 (5月。PDF格式)
* (in Mandarin Chinese)^ 疾病管制局 毒品病患愛滋減害試辦計畫 (MS Word格式)
## External links[edit]
Wikinews has related news:
* Taipei mayor Ma hopes local HIV midway home "patients out only"
* Centers for Disease Control — Taipei, Taiwan
* AIDS Prevention and Research Center and Institute of Public Health, National Yang-Ming University, Taipei, Taiwan
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
HIV/AIDS in Taiwan
|
None
| 8,668 |
wikipedia
|
https://en.wikipedia.org/wiki/HIV/AIDS_in_Taiwan
| 2021-01-18T18:48:17 |
{"wikidata": ["Q5629887"]}
|
Rare genetic condition involving urinary, heart, facial and neurological features
Okamoto syndrome
Other namesAu–Kline syndrome (AKS),[1] neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome,[2] congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation[3]
Boy with Okamoto syndrome, showing the characteristic facial features
SpecialtyMedical genetics
SymptomsCongenital hydronephrosis, congenital heart defects, intellectual disability, dysautonomia, characteristic facial features[4]
ComplicationsUrinary tract infections[4]
CausesGenetic (autosomal dominant mutation in HNRNPK)[4]
Diagnostic methodBased on symptoms, genetic testing[4]
TreatmentSymptomatic[4]
PrognosisNot yet certain. Most patients have at least lived through childhood; mortality in infancy in a minority.[5]
FrequencyNot yet known. 26 individuals known to be affected as of May 2019[update].[1][4]
Okamoto syndrome (OS), also known as Au–Kline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis, low muscle tone, heart defects, intellectual disability and characteristic facial features.[4][6] Those affected often have neurological and skeletal abnormalities, as well as frequent urinary tract infections. Language and walking are usually delayed. Facial features include prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis).[4][5]
The syndrome is caused by mutations in the HNRNPK gene, which codes for heterogeneous nuclear ribonucleoprotein K. This protein is involved in the process of DNA transcription and translation into proteins. A mutation in this gene impairs DNA transcription, disrupting some developmental processes.[4][7] As an autosomal dominant disorder, only one faulty copy of the gene is required for the condition to occur. The syndrome is typically diagnosed based on the physical symptoms and then confirmed by genetic testing.[4][5]
Treatment has centred around the symptoms. Sign language and assistive language technology can aid communication.[4][7] The prognosis is not yet fully known, due to the lack of patients in literature, however most of the patients have at least lived through childhood. The urinary system defects have been the most significant contributors to mortality.[5] As of May 2019[update], 26 individuals worldwide were known to be affected.[1][4] The syndrome was first described in 1997 by Nobuhiko Okamoto et al.,[8] and the gene responsible was first identified in 2015 by Ping-Yee Billie Au, Antonie D. Kline et al.[7] In 2019, Okamoto proposed that Au–Kline syndrome and Okamoto syndrome were synonymous.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Kidneys
* 1.2 Heart
* 1.3 Physical features
* 1.4 Neurological
* 1.5 Skeletal
* 1.6 Growth
* 1.7 Hearing and eyesight
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
### Kidneys[edit]
Individuals with Okamoto syndrome are usually born with hydronephrosis, or dilation of the internal structures of the kidneys, due to narrowing (stenosis) of the passage between the kidneys and the ureters (the ureteropelvic junction), leading to a build-up of urine. There is also often vesicoureteral reflux, in which urine passes backwards from the bladder to the ureters, and frequent urinary tract infections.[3][4][5]
### Heart[edit]
Individuals with Okamoto syndrome are typically born with heart defects, which can include aortic valve stenosis, atrial or ventricular septal defect, bicuspid aortic valve or patent ductus arteriosus.[3][4][7]
### Physical features[edit]
The syndrome has a characteristic facial appearance which is similar to that of Kabuki syndrome, including prominent, downward-displaced ears that are underdeveloped, long eyelids, epicanthic folds, a short, broad nose, an open, downturned mouth and a deep groove in the midline of the tongue.[4] Cleft palate occurs in about half of those affected.[4] There is sometimes webbing of the neck or bulging eyes, and less commonly there is excessive hair on the forehead or other parts of the body or a unibrow.[3][8] Individuals with the syndrome may also have a broad first toe and crowding of the toes,[1][7][8] and at least two affected individuals have had polydactyly of the fifth digit (postaxial polydactyly).[4][7] Some of those affected have had undescended testicles (cryptorchidism).[1][4] A small minority of those affected have had congenital joint contractures such as club foot.[1]
### Neurological[edit]
Those with Okamoto syndrome typically have severe mental disability and are usually born with microcephaly.[1][3][4] There are typically language and walking delays, and those affected have very low muscle tone and decreased reflexes.[3][4][8] They may have neural tube defects such as lipomyelomeningocele (a form of spina bifida) or may have syringomyelia (a cyst in the spinal cord).[3][4][7] Those with the syndrome may also have symptoms of dysautonomia (impairments in the autonomic nervous system), including gastrointestinal dysmotility, contributing to gastroesophageal reflux disease, or neurogenic bladder dysfunction, in which bladder control is limited.[3][4][5] Dysautonomia has also led to high pain tolerance and reduced sweating in some patients.[4][5] Some of those with the syndrome have been found to have an underdeveloped corpus callosum, the main band of white matter that connects the two cerebral hemispheres.[3][4][5]
### Skeletal[edit]
Okamoto syndrome patients often have skeletal problems such as scoliosis or hip dysplasia, which can lead to hip dislocation.[1][3][4] They may be born with congenital vertebral anomalies; parts of the spine may be fused and fail to segment.[4] There may also be extra vertebrae in the lower back.[5][7] Some of those affected have been reported to have premature fusion of the skull bones (craniosynostosis), particularly those across the midline and at the front of the skull. This has led to an elongated skull shape known as scaphocephaly as well as a ridge on the forehead known as a metopic ridge.[4]
### Growth[edit]
Those affected may be born with low weight and size[7][8] and may display stunted growth in childhood,[3] although this symptom has been variable and not in every individual with Okamoto syndrome.[4][5]
### Hearing and eyesight[edit]
A minority of those with Okamoto syndrome have had hearing loss of both sensorineural and conductive types, and a smaller minority have had optic nerve abnormalities.[4][5][7]
## Cause[edit]
This condition is inherited in an autosomal dominant manner.
Okamoto syndrome is caused by a mutation in the HNRNPK gene, located on chromosome 9 at position q21.32.[1][4] HNRNPK codes for heterogeneous nuclear ribonucleoprotein K. Ribonucleoproteins are proteins that form complexes with RNA, and they are involved in the transcription of DNA into RNA in the nucleus. They usually bind with precursor messenger RNA (pre-mRNA), which is messenger RNA that has not yet had its introns removed during splicing to be ready for translation. A mutation in one of the two copies of HNRNPK results in defects in DNA transcription, and therefore some developmental processes are disrupted or not completed.[4][7]
Mutations in HNRNPK that have been reported include nonsense mutations, in which the protein is truncated and usually non-functional as a result, frameshift mutations, splice-site mutations and microdeletions encompassing the gene. Rarely, missense mutations, in which one amino acid in the protein is replaced by another, have also been reported.[4]
Deletions in the region encompassing HNRNPK have been found in the cells of acute myeloid leukemia in approximately 2% of cases.[9] Acute myeloid leukemia cells are immature white blood cells (myeloblasts) that remain in the stem-cell stage, dividing continually. Additionally, a 2015 study found that a majority of mice who had one of their HNRNPK genes artificially knocked out developed myeloid cancers, with a third developing lymphoid cancers and 4% developing hepatocellular carcinomas. The mice were also smaller, had less developed organs and had higher postnatal mortality (30%). The median lifespan of the mice that survived was less than 50% that of wild-type mice.[9] However, blood cancers had not yet been detected in any of the Okamoto syndrome patients as of 2018[update].[4][5]
Mutations in both copies of HNRNPK are embryonic lethal in mice. Mice with both copies of the gene knocked out die before the 14th day of embryonic development.[9]
## Diagnosis[edit]
The condition has usually been diagnosed based on the physical symptoms and confirmed by genetic testing.[4] Methods have included whole exome sequencing and comparative genomic hybridization (for microdeletions). Sanger sequencing can confirm the nature of the mutation.[5]
## Treatment[edit]
Treatment is focussed on the symptoms. Atrial or ventricular septal defects are usually treated with observation but can be surgically corrected in severe cases. Some patients have been able to use sign language or assistive language devices to facilitate communication.[4][7]
## Prognosis[edit]
The prognosis of the disorder is not yet fully known. A minority of patients have died in infancy due to complications from their urinary system defects, including infections in Okamoto's first two patients,[1] however most have lived through childhood and into adolescence.[5] Motor and language skills typically improve as the patient ages. The prognosis in adulthood is not yet known, due to the lack of known patients in this age group.[5]
As an autosomal dominant condition, there is little risk of recurrence in future conceptions from unaffected parents. However, there is a slight possibility (around 1%) due to germline mosaicism, a phenomenon in which some sperm cell precursors have the mutation and others don't. Genetic counselling may be offered for this.[4]
## Epidemiology[edit]
The prevalence of the disorder is as yet unknown. As of May 2019[update], 26 individuals worldwide were known to be affected, with 13 of these reported in literature, mostly from 2010 to 2019.[1][4]
## History[edit]
Okamoto syndrome was first described in 1997 by Nobuhiko Okamoto et al. from the Department of Medical Genetics at Osaka Women's and Children's Hospital after observing very similar symptoms and physical features in two unrelated Japanese infants. Both infants had congenital hydronephrosis due to ureteropelvic junction stenosis, low muscle tone, developmental delay and characteristic facial features including an open mouth and low-set ears.[8]
Au–Kline syndrome was first described in 2015 by Ping-Yee Billie Au, Antonie D. Kline et al. after mutations in HNRNPK were found in two individuals with similar symptoms at their respective practices in Calgary, Alberta, Canada and Baltimore, Maryland, United States. The practices were united with each other after both submitted the gene as a candidate to the online service GeneMatcher, which matched them together and allowed them to confirm the syndrome.[7]
In 2019, Okamoto proposed that Au–Kline syndrome and Okamoto syndrome were synonymous, because a mutation in the HNRNPK gene had been found in a new Okamoto syndrome patient, and the symptoms were virtually identical.[1]
## See also[edit]
* CDK13-related disorder
* Kabuki syndrome
## References[edit]
1. ^ a b c d e f g h i j k l m Okamoto, Nobuhiko (May 2019). "Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation". American Journal of Medical Genetics. Part A. 179 (5): 822–826. doi:10.1002/ajmg.a.61079. ISSN 1552-4833. PMID 30793470.
2. ^ "Orphanet: Neurodevelopmental disorder craniofacial dysmorphism cardiac defect skeletal anomalies syndrome". www.orpha.net. Retrieved 9 December 2019.
3. ^ a b c d e f g h i j k "Okamoto syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2 December 2019.
4. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak Au, Ping-Yee Billie; Innes, A. Micheil; Kline, Antonie D. (2019), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Au-Kline Syndrome", GeneReviews®, University of Washington, Seattle, PMID 30998304, retrieved 2 December 2019
5. ^ a b c d e f g h i j k l m n o Au, P. Y. Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K.; Graham, Gail E.; Galarreta, Carolina; Jones, Marilyn C. (September 2018). "Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature". European Journal of Human Genetics. 26 (9): 1272–1281. doi:10.1038/s41431-018-0187-2. ISSN 1476-5438. PMC 6117294. PMID 29904177.
6. ^ "Orphanet: Okamoto syndrome". www.orpha.net. Retrieved 30 November 2019.
7. ^ a b c d e f g h i j k l m Au, P.Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil (October 2015). "GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK". Human Mutation. 36 (10): 1009–1014. doi:10.1002/humu.22837. ISSN 1059-7794. PMC 4589226. PMID 26173930.
8. ^ a b c d e f Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi (1997). "New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face". American Journal of Medical Genetics. 68 (3): 347–349. doi:10.1002/(SICI)1096-8628(19970131)68:3<347::AID-AJMG18>3.0.CO;2-T. ISSN 1096-8628. PMID 9024570.
9. ^ a b c Gallardo, Miguel; Lee, Hun Ju; Zhang, Xiaorui; Bueso-Ramos, Carlos; Pageon, Laura R.; McArthur, Mark; Multani, Asha; Nazha, Aziz; Manshouri, Taghi; Parker-Thornburg, Jan; Rapado, Inmaculada (12 October 2015). "hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies". Cancer Cell. 28 (4): 486–499. doi:10.1016/j.ccell.2015.09.001. ISSN 1878-3686. PMC 4652598. PMID 26412324.
## External links[edit]
* Au–Kline syndrome at the US National Institutes of Health (NIH) Genetics Home Reference
Classification
D
* OMIM: 604916 616580
* MeSH: C565736
External resources
* GeneReviews: Au–Kline Syndrome
* GARD: Okamoto syndrome
* Orphanet: 2729 453499
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Okamoto syndrome
|
c1858043
| 8,669 |
wikipedia
|
https://en.wikipedia.org/wiki/Okamoto_syndrome
| 2021-01-18T19:01:04 |
{"gard": ["4064"], "mesh": ["C565736"], "umls": ["C1858043"], "orphanet": ["2729"], "wikidata": ["Q55783391"]}
|
Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Chromosome 2q duplication
|
c0795805
| 8,670 |
gard
|
https://rarediseases.info.nih.gov/diseases/5340/chromosome-2q-duplication
| 2021-01-18T18:01:22 |
{"mesh": ["C535367"], "umls": ["C0795805"], "synonyms": ["Duplication 2q", "Trisomy 2q", "2q duplication", "2q trisomy", "Partial trisomy 2q"]}
|
A number sign (#) is used with this entry because of evidence that this form of primary immunodeficiency is caused by homozygous mutation in the gene encoding the MAPBP-interacting protein (MAPBPIP; 610389) on chromosome 1q22.
Clinical Features
Bohn et al. (2007) described 4 of 15 sibs from a Caucasian Mennonite family who showed a characteristic clinical phenotype associating short stature, hypopigmented skin, coarse facial features, and recurrent bronchopulmonary infections due to Streptococcus pneumoniae. Affected individuals had consistently low peripheral neutrophil counts, with absolute neutrophil counts less than 500 per microliter, although neutrophil maturation in the bone marrow was intact. Compared to healthy sibs, CD8(+) cytotoxic T cells from affected individuals had decreased cytotoxic activity. Structural and functional analysis of patients' immune cells and melanocytes suggested abnormal maturation and function of specialized lysosomes in cytotoxic T cells, melanocytes, and neutrophil granulocytes.
Molecular Genetics
Bohn et al. (2007) performed genomewide linkage analysis in a Caucasian Mennonite family with a primary immunodeficiency syndrome and found significant linkage on chromosome 1q21-q23 between D1S498 and D1S1153. Sequencing of 19 genes in the maximal possible linkage region failed to detect a mutation. Bohn et al. (2007) combined the results of genetic linkage analysis and genomewide transcriptional profiling analysis and found that MAPBPIP (610389) was the only gene located within the crucial region on chromosome 1q21 that was underexpressed by a factor greater than 2 in affected individuals. Sequence analysis revealed that affected individuals were homozygous for a mutation in the 3-prime UTR of exon 4 (610389.0001) that was not found in 100 control alleles or in 34 alleles from healthy Mennonites.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Face \- Coarse facial features RESPIRATORY \- Recurrent bronchopulmonary infections due to Streptococcus pneumoniae SKIN, NAILS, & HAIR Skin \- Hypopigmented skin HEMATOLOGY \- Low peripheral neutrophil counts (absolute neutrophil count less than 500/microliter) \- Neutrophil maturation in bone marrow intact IMMUNOLOGY \- Increased total number of CD19+ B cells \- Increased percentage of naive IgD+ IgM+ CD27- B cells \- Decreased percentage of IgD+ IgM+ CD27+ memory B cells \- Decreased percentage of IgD- IgM- CD27+ class-switched memory B cells \- Decreased serum IgM \- Low IgG in adolescence (2 of 4 affected individuals) \- Decreased cytotoxic activity of CD8+ T cells MOLECULAR BASIS \- Caused by mutation in the late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene (LAMTOR2, 610389.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
|
c1835829
| 8,671 |
omim
|
https://www.omim.org/entry/610798
| 2019-09-22T16:04:04 |
{"mesh": ["C563663"], "omim": ["610798"], "orphanet": ["90023"]}
|
Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Roifman syndrome
|
c1846059
| 8,672 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353298
| 2021-01-23T17:07:49 |
{"gard": ["9163"], "mesh": ["C535866"], "omim": ["300258", "616651"], "umls": ["C1846059"], "icd-10": ["Q77.7"], "synonyms": ["Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome"]}
|
Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).
## Epidemiology
The prevalence of CMDs is not well known but is estimated at about 1-9/100,000 in countries where they are most frequent. Males and females are equally affected.
## Clinical description
Orthopaedic and respiratory complications that may be life-threatening often develop in the course of the disease.
## Etiology
CMDs have autosomal recessive inheritance with the exception of dominant mutations possible in at least two forms (UCMD may have autosomal dominant or recessive inheritance; L-CMD is due to dominant de novo mutations). At least 15 genes are known to be responsible for this group of disorders.
## Diagnostic methods
Diagnosis is often difficult due to the wide clinical, immunohistochemical and genetic heterogeneity. The diagnosis is based on clinical findings, immunochemical staining on muscle biopsy, and molecular genetic testing. Increased creatine kinase (CK) levels, presence of intellectual deficiency and type of distribution of different signs or symptoms are useful markers to distinguish different forms. CMDs due to collagen VI disorders are complex and may need additional studies in skin fibroblasts.
## Differential diagnosis
Differential diagnoses include congenital and early onset neuromuscular disorders, mainly congenital myopathies, spinal muscular atrophy and congenital myasthenic syndromes (see these theses terms). Patients with mutations in genes identified in other neighbour muscular disorders such as congenital myopathies may present sometimes as a CMD (including the finding of dystrophic features on muscle biopsy) without specific ultrastructural abnormalities on muscle biopsy.
## Antenatal diagnosis
Antenatal diagnosis is feasible through molecular analysis of amniocytes and in some forms coupled with immunohistochemical staining of chorionic villus samples (MDC1A).
## Management and treatment
Currently there is no curative therapy, but supportive treatments. Besides global and nutritional management, common restrictive respiratory insufficiency may need mechanical respiratory assistance. Orthopedic complications (joint contractures, spinal deformities) are a main concern and preventive or proactive treatment by regular physical and occupational therapies and trunk and limb orthesis is often useful to reduce the severity and course of the deformities. Surgical interventions in spine (spinal fusion) are used to correct or stabilise the spine if scoliosis develops. Tenotomies are also used to reduce the severity of joint contractures but do not have always a beneficial result. Cardiac and neurological symptoms may be particularly severe in certain forms and require specific treatment. Psychological support is very helpful for patients or families.
## Prognosis
The prognosis depends on the type of congenital muscular dystrophy. Respiratory insufficiency and brain pathology are the main causes of mortality.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Congenital muscular dystrophy
|
c0026850
| 8,673 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97242
| 2021-01-23T17:52:29 |
{"gard": ["9138"], "mesh": ["D009136"], "umls": ["C0026850", "C0699743"], "icd-10": ["G71.2"], "synonyms": ["CMD", "MDC"]}
|
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Congenital cataract-hearing loss-severe developmental delay syndrome
|
c3280965
| 8,674 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300313
| 2021-01-23T17:58:07 |
{"omim": ["614482"], "synonyms": ["Congenital cataract-deafness-severe developmental delay syndrome", "Huppke-Brendel syndrome", "Lethal neurodegenerative disorder due to copper transport defect"]}
|
Rossolimo's sign
Differential diagnosisPyramidal tract lesions
Rossolimo's sign is a clinical sign in which percussion of the tips of the toes causes an exaggerated flexion of the toes. It is found in patients with pyramidal tract lesions, and is one of a number of Babinski-like responses.[1]
The sign is named after Grigory Ivanovich Rossolimo.[2]
## References[edit]
1. ^ Kumar SP, Ramasubramanian D (December 2000). "The Babinski sign--a reappraisal". Neurol India. 48 (4): 314–8. PMID 11146592. Retrieved 2009-04-13.
2. ^ Rossolimo's reflex at Who Named It?
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Rossolimo's sign
|
None
| 8,675 |
wikipedia
|
https://en.wikipedia.org/wiki/Rossolimo%27s_sign
| 2021-01-18T19:05:09 |
{"wikidata": ["Q1923089"]}
|
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Clinical Features
Storey et al. (2009) reported an Australian family of Anglo-Celtic origin in which 6 individuals had a relatively pure, slowly evolving ataxia inherited in an autosomal dominant pattern. The mean reported age at onset was 52 years (range 45 to 76), but the onset was typically so insidious that it was difficult to establish. The phenotype was characterized by relatively pure, slowly evolving gait and appendicular ataxia with mild to moderate dysarthria. Four individuals had mild lower limb hyperreflexia; none had evidence of neuropathy. All patients had hypermetric saccades with normal vestibuloocular reflex gain. One patient had slight gaze-evoked nystagmus. Brain MRI of 2 patients showed cerebellar atrophy with preservation of the brainstem.
Mapping
By genomewide linkage analysis of an Australian family with a relatively pure form of spinocerebellar ataxia, Storey et al. (2009) identified a locus, termed SCA30, on chromosome 4q34.3-q35.1 (lod score of 3.0). Haplotype analysis delineated a 5-Mb region between rs1397413 and rs2175476. ODZ3 (610083) was identified as a plausible candidate gene.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Hypermetric saccades \- Gaze-evoked nystagmus (1 patient) NEUROLOGIC Central Nervous System \- Ataxia, gait and appendicular \- Dysarthria \- Hyperreflexia, lower limbs, mild \- Cerebellar atrophy MISCELLANEOUS \- Adult onset (45 to 76 years) \- Insidious onset \- Slow progression \- One family has been reported (as of 4/2010) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
SPINOCEREBELLAR ATAXIA 30
|
c2936793
| 8,676 |
omim
|
https://www.omim.org/entry/613371
| 2019-09-22T15:58:53 |
{"doid": ["0050979"], "mesh": ["C575214"], "omim": ["613371"], "orphanet": ["211017"]}
|
Lymphoid interstitial pneumonia is a rare pulmonary disease, occurring mainly in children. O'Brodovich et al. (1980) reported LIP in 2 brothers, the first and sixth born of 9 sibs from unrelated parents. In the older brother, digital clubbing was noted at age 3 years. Diagnosis was made at age 9. Death from right-sided heart failure occurred at age 12. The younger, aged 13 at the time of report, was living and able to work on the family farm in Manitoba. He also had mild aortic stenosis for which valvulotomy was performed.
Cardiac \- Cor pulmonale \- Aortic stenosis Pulmonary \- Lymphoid interstitial pneumonia Limbs \- Digital clubbing Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
LYMPHOID INTERSTITIAL PNEUMONIA
|
c0264511
| 8,677 |
omim
|
https://www.omim.org/entry/247610
| 2019-09-22T16:25:46 |
{"mesh": ["C562489"], "omim": ["247610"], "icd-10": ["J84.2"], "orphanet": ["79128"]}
|
Epidemic Dropsy
Epidemic dropsy patients with the characteristic bilateral pitting edema of the extremities (indicated by arrows)
SpecialtyEmergency medicine
Epidemic dropsy is a form of edema of extremities due to poisoning by Argemone mexicana (Mexican prickly poppy).[1][2]
Epidemic dropsy is a clinical state resulting from use of edible oils adulterated with Argemone mexicana seed oil.
Sanguinarine and dihydrosanguinarine are two major toxic alkaloids of argemone oil, which cause widespread capillary dilatation, proliferation and increased capillary permeability. When mustard oil is adulterated deliberately (as in most cases) or accidentally with argemone oil, proteinuria (specifically loss of albumin) occurs, with a resultant edema as would occur in nephrotic syndrome.
Other major symptoms are bilateral pitting edema of extremities, headache, nausea, loose bowels, erythema, glaucoma and breathlessness.
Leakage of the protein-rich plasma component into the extracellular compartment leads to the formation of edema. The haemodynamic consequences of this vascular dilatation and permeability lead to a state of relative hypovolemia with a constant stimulus for fluid and salt conservation by the kidneys. Illness begins with gastroenteric symptoms followed by cutaneous erythema and pigmentation. Respiratory symptoms such as cough, shortness of breath and orthopnoea, progressing to frank right-sided congestive cardiac failure, are seen.
Mild to moderate anaemia, hypoproteinaemia, mild to moderate renal azotemia, retinal haemorrhages, and glaucoma are common manifestations. There is no specific therapy. Removal of the adulterated oil and symptomatic treatment of congestive cardiac failure and respiratory symptoms, along with administration of antioxidants and multivitamins, remain the mainstay of treatment.[1]
Epidemic dropsy occurs as an epidemic in places where use of mustard oil from the seeds of Brassica juncea, commonly known as Indian mustard, as a cooking medium is common.[2]
## Contents
* 1 Cause
* 1.1 Argemone mexicana
* 2 Mechanism
* 3 Diagnosis
* 4 Treatment
* 5 Prevalence
* 6 References
* 7 External links
## Cause[edit]
### Argemone mexicana[edit]
Argemone mexicana
Argemone mexicana (family Papaveraceae), a native of West Indies and naturalized in India, is known as “Shailkanta” in Bengal and “Bharbhanda” in Uttar Pradesh. It is also popularly known as “Pivladhatura” or “Satyanashi”, meaning devastating. The plant grows wildly in mustard and other fields. Its seeds are black in colour and are similar to the dark coloured mustards seeds (Brassica juncea) in shape and size. Adulteration of argemone seeds in light yellow colored mustard seeds (Brassica compestris) can easily be detected, but these seeds are rather difficult to visualize when mixed with dark coloured mustard seeds.
Argemone seeds yield approximately 35% oil. Alkaloid content in argemone oil varies from 0.44% to 0.50%. Argemone seeds find use as a substitute because of the easy availability, low cost and their complete miscibility of their oil with mustard oil.[2]
## Mechanism[edit]
Mortality is usually due to heart failure, pneumonia, respiratory distress syndrome or renal failure and is around 5%. Long-term follow-up studies are scanty so the long-term effects of argemone oil toxicity have not been documented. It has been reported that 25% of cases will have oedema beyond 2 months and 10% beyond 5 months. Pigmentation of skin and excessive loss of hair, which lasted 4–5 months following the disease. The majority of patients completely recover in about 3 months.[1]
ROS and Oxidative stress : Studies in the blood of dropsy patients has revealed that there is extensive ROS production (singlet oxygen and hydrogen peroxide) in the argemone oil intoxication leading to depletion of total antioxidants in the body and especially lipid-soluble antioxidants such as vitamin E and A (tocopherol and retinol).[3] There is an extensive damage to the anti-oxidant defense system (anti-oxidant enzymes and anti-oxidants) of blood. Prior, in vitro studies have shown that reactive oxygen species (ROS) are involved in AO induced toxicity causing peroxidative damage of lipids in various hepatic sub-cellular fractions including microsomes and mitochondria of rats. The damage in hepatic microsomal membrane causes loss of activity of cytochrome P-450 and other membrane bound enzymes responsible for xenobiotic metabolism which leads to delayed bioelimination of sanguinarine and enhances its cumulative toxicity.[4] Several lines of evidence have been shown to explain the mechanism of toxicity of argemone oil/alkaloid.[5] The toxicity of sanguinarine has been shown to be dependent on the reactivity of its iminium bond with nucleophilic sites like thiol groups, present at the active sites of the enzymes and other vital proteins and thus suggesting the electrophilic nature of the alkaloid.
Pulmonary Toxicity: The decrease in glycogen levels following argemone oil intoxication could be due to enhanced glycogenolysis leading to the formation of glucose-1-phosphate, which enters the glycoltic pathway resulting in accumulation of pyruvate in the blood of experimental animals and dropsy patients. The enhancement of glycogenolysis can further be supported by the interference of sanguinarine in the uptake of glucose through blocking of sodium pump via Na+-K+-ATPase and thereby inhibiting the active transport of glucose across intestinal barrier. It is well established that increased pyruvate concentration in blood uncouples oxidative phosphorylation, and this may be responsible for thickening of interalveolar septa and disorganized alveolar spaces in lungs of argemone oil-fed rats and the breathlessness as has been observed in human victims.[2]
Cardiac Failure:The inhibition of Na+-K+-ATPase activity of heart by sanguinarine is due to interaction with the cardiac glycoside receptor site of the enzyme, which may be responsible for producing degenerative changes in cardiac muscle fibers in the auricular wall of rats fed argemone oil and could be related to tachycardia and cardiac failure in Epidemic Dropsy patients.[6]
Delayed clearance:Destruction of hepatic cytochrome P450 significantly affects the metabolic clearance by liver,.[7][8] The retention of sanguinarine in the GI tract, liver, lung, kidney, heart, and serum even after 96 hrs of exposure indicates these as the likely target sites of argemone oil toxicity.[2]
## Diagnosis[edit]
Nitric acid test and paper chromatography test are used in the detection of argemone oil. Paper chromatography test is the most sensitive test.
## Treatment[edit]
Withdrawal of the contaminated cooking oil is the most important initial step. Bed rest with leg elevation and a protein-rich diet are useful. Supplements of calcium, antioxidants (vitamin C and E), and thiamine and other B vitamins are commonly used. Corticosteroids and antihistaminics such as promethazine have been advocated by some investigators, but demonstrated efficacy is lacking. Diuretics are used universally but caution must be exercised not to deplete the intravascular volume unless features of frank congestive cardiac failure are present, as oedema is mainly due to increased capillary permeability. Cardiac failure is managed by bed rest, salt restriction, digitalis and diuretics. Pneumonia is treated with appropriate antibiotics. Renal failure may need dialysis therapy and complete clinical recovery is seen. Glaucoma may need operative intervention, but generally responds to medical management.[1]
## Prevalence[edit]
Brassica juncea
Besides India, widespread epidemics have been reported from Mauritius, Fiji Islands, Northwest Cape districts of South Africa, Madagascar and also from Nepal. Apart from a South African study, where the epidemic occurred through contamination in wheat flour, all the epidemics occurred through the consumption of mustard oil contaminated with argemone oil.[2]
In these populations mustard oil is the prime edible oil by culture.
The earliest reference to argemone oil poisoning was made by Lyon,[9] who reported four cases of poisoning in Calcutta in 1877 from the use of this oil in food.
Since then, epidemic dropsy has been reported from Bengal, Bihar, Orissa, Madhya Pradesh, Haryana, Assam, J&K, Uttar Pradesh, Gujarat, Delhi and Maharashtra, mainly due to consumption of food cooked in argemone oil mixed with mustard oil or occasionally by body massage with contaminated oil.[2]
The epidemic in 1998 at New Delhi, India is the largest so far, in which over 60 persons lost their lives and more than 3000 victims were hospitalized.[2] Few studies reported the findings in patients affected with this condition.[10]
Even after that the epidemics occurred at alarming frequency in Gwalior (2000), Kannauj (2002) and Lucknow (2005) cities of India.[3]
## References[edit]
1. ^ a b c d Sharma, B. D.; Malhotra, S.; Bhatia, V.; Rathee, M. (November 1999). "Epidemic dropsy in India". Postgraduate Medical Journal. 75 (889): 657–661. doi:10.1136/pgmj.75.889.657. PMC 1741391. PMID 10621875.
2. ^ a b c d e f g h Das, M.; Khanna, S. K. (1997). "Clinicoepidemiological, Toxicological, and Safety Evaluation Studies on Argemone Oil". Critical Reviews in Toxicology. 27 (3): 273–297. doi:10.3109/10408449709089896. PMID 9189656.
3. ^ a b Das, M.; Babu, K.; Reddy, N. P.; Srivastava, L. M. (2005). "Oxidative Damage of Plasma Proteins and Lipids in Epidemic Dropsy Patients: Alterations in Antioxidant Status". Biochimica et Biophysica Acta (BBA) - General Subjects. 1722 (2): 209–217. doi:10.1016/j.bbagen.2004.12.014. PMID 15715957.
4. ^ Reddy, N. P.; Das, M. (2008). "Interaction of Sanguinarine Alkaloid, Isolated from Argemone Oil, with Hepatic Cytochrome p450 in Rats". Toxicology Mechanisms and Methods. 18 (8): 635–643. doi:10.1080/15376510701738439. PMID 20020849.
5. ^ Das, M.; Ansari, K. M.; Dhawan, A.; Shukla, Y.; Khanna, S. K. (2005). "Correlation of DNA Damage in Epidemic Dropsy Patients to Carcinogenic Potential of Argemone Oil and Isolated Sanguinarine Alkaloid in Mice". International Journal of Cancer. 117 (5): 709–717. doi:10.1002/ijc.21234. PMID 15981203.
6. ^ Seifen, E.; Adams, R. J.; Riemer, R. K. (1979). "Sanguinarine: A Positive Inotropic Alkaloid which Inhibits Cardiac Na+, K+ -ATPase". European Journal of Pharmacology. 60 (4): 373–377. doi:10.1016/0014-2999(79)90245-0. PMID 230984.
7. ^ Upreti KK, Das M, Khanna SK (Jun 1991). "Biochemical toxicology of argemone oil. I. Effect on hepatic cytochrome P-450 and xenobiotic metabolizing enzymes". J Appl Toxicol. 11 (3): 203–9. doi:10.1002/jat.2550110309. PMID 1918795.
8. ^ Eruvaram, N. R.; Das, M. (2009). "Phenotype of Hepatic Xenobiotic Metabolizing Enzymes and CYP450 Isoforms of Sanguinarine Treated Rats: Effect of P450 Inducers on its Toxicity". Toxicology Mechanisms and Methods. 19 (8): 510–517. doi:10.1080/15376510903313825. PMID 19788401.
9. ^ Lyon, I. B. (1889). Textbook of Medical Jurisprudence for India (1st ed.). p. 214.
10. ^ Kar HK, Jain RK, Sharma PK, Gautam RK, Kumar P, Bhardwaj M (2001). "Epidemic dropsy: A study of cutaneous manifestations with histopathological correlation". Indian J Dermatol Venereol Leprol. 67 (4): 178–9. PMID 17664732.
## External links[edit]
Classification
D
* ICD-10: T62.8
* DiseasesDB: 32789
* v
* t
* e
* Poisoning
* Toxicity
* Overdose
History of poison
Inorganic
Metals
Toxic metals
* Beryllium
* Cadmium
* Lead
* Mercury
* Nickel
* Silver
* Thallium
* Tin
Dietary minerals
* Chromium
* Cobalt
* Copper
* Iron
* Manganese
* Zinc
Metalloids
* Arsenic
Nonmetals
* Sulfuric acid
* Selenium
* Chlorine
* Fluoride
Organic
Phosphorus
* Pesticides
* Aluminium phosphide
* Organophosphates
Nitrogen
* Cyanide
* Nicotine
* Nitrogen dioxide poisoning
CHO
* alcohol
* Ethanol
* Ethylene glycol
* Methanol
* Carbon monoxide
* Oxygen
* Toluene
Pharmaceutical
Drug overdoses
Nervous
* Anticholinesterase
* Aspirin
* Barbiturates
* Benzodiazepines
* Cocaine
* Lithium
* Opioids
* Paracetamol
* Tricyclic antidepressants
Cardiovascular
* Digoxin
* Dipyridamole
Vitamin poisoning
* Vitamin A
* Vitamin D
* Vitamin E
* Megavitamin-B6 syndrome
Biological1
Fish / seafood
* Ciguatera
* Haff disease
* Ichthyoallyeinotoxism
* Scombroid
* Shellfish poisoning
* Amnesic
* Diarrhetic
* Neurotoxic
* Paralytic
Other vertebrates
* amphibian venom
* Batrachotoxin
* Bombesin
* Bufotenin
* Physalaemin
* birds / quail
* Coturnism
* snake venom
* Alpha-Bungarotoxin
* Ancrod
* Batroxobin
Arthropods
* Arthropod bites and stings
* bee sting / bee venom
* Apamin
* Melittin
* scorpion venom
* Charybdotoxin
* spider venom
* Latrotoxin / Latrodectism
* Loxoscelism
* tick paralysis
Plants / fungi
* Cinchonism
* Ergotism
* Lathyrism
* Locoism
* Mushrooms
* Strychnine
1 including venoms, toxins, foodborne illnesses.
* Category
* Commons
* WikiProject
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Epidemic dropsy
|
c0413036
| 8,678 |
wikipedia
|
https://en.wikipedia.org/wiki/Epidemic_dropsy
| 2021-01-18T18:52:32 |
{"icd-10": ["T62.8"], "wikidata": ["Q5382698"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Chondropathy" – news · newspapers · books · scholar · JSTOR (October 2020)
Chondropathy
SpecialtyOrthopedics
Chondropathy refers to a disease of the cartilage. It is frequently divided into 5 grades, with 0-2 defined as normal and 3-4 defined as diseased.
## Contents
* 1 Some common diseases affecting/involving the cartilage
* 2 Repairing articular cartilage damage
* 3 References
* 4 External links
## Some common diseases affecting/involving the cartilage[edit]
* Achondroplasia: Reduced proliferation of chondrocytes in the epiphyseal plate of long bones during infancy and childhood, resulting in dwarfism.
* Cartilage tumors
* Costochondritis: Inflammation of cartilage in the ribs, causing chest pain.
* Osteoarthritis: The cartilage covering bones (articular cartilage) is thinned, eventually completely worn out, resulting in a "bone against bone" joint, resulting in pain and reduced mobility. Osteoarthritis is very common, affects the joints exposed to high stress and is therefore considered the result of "wear and tear" rather than a true disease. It is treated by Arthroplasty, the replacement of the joint by a synthetic joint made of titanium and teflon. Chondroitin sulfate, a monomer of the polysaccharide portion of proteoglycan, has been shown to reduce the symptoms of osteoarthritis, possibly by increasing the synthesis of the extracellular matrix.
* Spinal disc herniation: Asymmetrical compression of an intervertebral disc ruptures the sac-like disc, causing a herniation of its soft content. The hernia compresses the adjacent nerves and causes back pain.
* Relapsing polychondritis: a destruction, probably autoimmune, of cartilage, especially of the nose and ears, causing disfiguration. Death occurs by suffocation as the larynx loses its rigidity and collapses.
## Repairing articular cartilage damage[edit]
Though articular cartilage damage is not life-threatening, it does strongly affect the quality of life. Articular cartilage damage is often the cause of severe pain, swellings, strong barriers to mobility and severe restrictions to the patient's activities. Over the last decades, however, surgeons and biotech ventures[who?] have elaborated promising procedures[which?] that contribute to articular cartilage repair. However, these procedures do not treat osteoarthritis.
## References[edit]
## External links[edit]
* [1] American Orthopaedic Society for Sports Medicine
* [2] The Steadman-Hawkins Clinic
Classification
D
* ICD-10: M91-M94
* ICD-9-CM: 732-733
* MeSH: D002357
* SNOMED CT: 367355001
* v
* t
* e
Bone and joint disease
Bone
Inflammation
endocrine:
* Osteitis fibrosa cystica
* Brown tumor
infection:
* Osteomyelitis
* Sequestrum
* Involucrum
* Sesamoiditis
* Brodie abscess
* Periostitis
* Vertebral osteomyelitis
Metabolic
* Bone density
* Osteoporosis
* Juvenile
* Osteopenia
* Osteomalacia
* Paget's disease of bone
* Hypophosphatasia
Bone resorption
* Osteolysis
* Hajdu–Cheney syndrome
* Ainhum
* Gorham's disease
Other
* Ischaemia
* Avascular necrosis
* Osteonecrosis of the jaw
* Complex regional pain syndrome
* Hypertrophic pulmonary osteoarthropathy
* Nonossifying fibroma
* Pseudarthrosis
* Stress fracture
* Fibrous dysplasia
* Monostotic
* Polyostotic
* Skeletal fluorosis
* bone cyst
* Aneurysmal bone cyst
* Hyperostosis
* Infantile cortical hyperostosis
* Osteosclerosis
* Melorheostosis
* Pycnodysostosis
Joint
Chondritis
* Relapsing polychondritis
Other
* Tietze's syndrome
Combined
Osteochondritis
* Osteochondritis dissecans
Child
leg:
* hip
* Legg–Calvé–Perthes syndrome
* tibia
* Osgood–Schlatter disease
* Blount's disease
* foot
* Köhler disease
* Sever's disease
spine
* * Scheuermann's_disease
arm:
* wrist
* Kienböck's disease
* elbow
* Panner disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Chondropathy
|
c0007302
| 8,679 |
wikipedia
|
https://en.wikipedia.org/wiki/Chondropathy
| 2021-01-18T18:54:58 |
{"mesh": ["D002357"], "umls": ["C0007302"], "icd-9": ["732", "733"], "wikidata": ["Q851693"]}
|
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.
Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.
Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.
## Frequency
Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For unknown reasons, moyamoya disease occurs twice as often in females as in males.
## Causes
The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. It is also likely that other factors (such as infection or inflammation) in combination with genetic factors play a role in the condition's development.
The RNF213 gene provides instructions for making a protein whose function is unknown. However, research suggests that the RNF213 protein is involved in the proper development of blood vessels.
Changes in the RNF213 gene involved in moyamoya disease replace single protein building blocks (amino acids) in the RNF213 protein. The effect of these changes on the function of the RNF213 protein is unknown, and researchers are unsure how the changes contribute to the narrowing of blood vessels or the characteristic blood vessel growth of moyamoya disease. For unknown reasons, people with moyamoya disease have elevated levels of proteins involved in cell and tissue growth, including the growth of blood vessels (angiogenesis). An excess of these proteins could account for the growth of new blood vessels characteristic of moyamoya disease. It is not clear if changes in the RNF213 gene are involved in the overproduction of these proteins.
### Learn more about the gene associated with Moyamoya disease
* RNF213
## Inheritance Pattern
Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, some people who have a copy of the altered gene never develop the condition, which is a situation known as reduced penetrance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Moyamoya disease
|
c2931384
| 8,680 |
medlineplus
|
https://medlineplus.gov/genetics/condition/moyamoya-disease/
| 2021-01-27T08:24:53 |
{"gard": ["7064"], "mesh": ["C536991"], "omim": ["252350", "607151", "608796", "614042"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that Joubert syndrome-18 (JBTS18) can be caused by homozygous mutation in the TCTN3 gene (613847) on chromosome 10q24.
Mutation in the TCTN3 gene can also cause a form of orofaciodigital syndrome, OFD4 (258860).
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Clinical Features
Thomas et al. (2012) studied 2 sibs, aged 13 and 6 years, from a consanguineous Turkish family with Joubert syndrome. Both sibs had vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. The older sib also had polydactyly and camptodactyly, abnormal eye movements, breathing anomalies, severe mental retardation, and joint laxity, whereas the younger sib had intrauterine growth retardation, oral anomalies, micrognathia, horseshoe kidney, and ventricular septal defect.
Mapping
Thomas et al. (2012) analyzed genomewide linkage scans in families with Joubert syndrome that were excluded by linkage to known Joubert syndrome loci and identified a Turkish family with 3 homozygous regions, the largest of which was on chromosome 10 in a region encompassing the TCTN3 gene.
Molecular Genetics
By direct sequencing of the TCTN3 in 2 Turkish sibs with Joubert syndrome, Thomas et al. (2012) identified homozygosity for the same missense mutation in both (G314R; 613847.0006).
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation HEAD & NECK Face \- Micrognathism Eyes \- Abnormal eye movements CARDIOVASCULAR Heart \- Ventricular septal defect RESPIRATORY \- Breathing anomalies GENITOURINARY Kidneys \- Horseshoe kidney SKELETAL \- Joint laxity Spine \- Kyphoscoliosis, severe Hands \- Camptodactyly \- Polydactyly NEUROLOGIC Central Nervous System \- Vermis aplasia \- Molar tooth sign \- Mental retardation MISCELLANEOUS \- Variable phenotype \- Based on 2 siblings in 1 family (last curated September 2012) MOLECULAR BASIS \- Caused by mutation in the tectonic family member 3 gene (TCTN3, 613847.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
JOUBERT SYNDROME 18
|
c2745997
| 8,681 |
omim
|
https://www.omim.org/entry/614815
| 2019-09-22T15:54:17 |
{"doid": ["0110987"], "mesh": ["C536531"], "omim": ["614815"], "orphanet": ["2754"], "genereviews": ["NBK1325"]}
|
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Mapping
Satake et al. (2009) performed a large genomewide association study in the Japanese population involving a discovery cohort of 1,078 patients with Parkinson disease and 2,628 controls followed by replication in 612 cases and 14,139 controls and second replication in 321 cases and 1,614 controls. They identified 2 novel susceptibility loci with genomewide significance on chromosomes on 1q32, designated PARK16, and 4p15. On chromosome 1q32, rs947211 showed the strongest association with PD (p = 1.52 x 10(-12), odds ratio (OR) = 1.30). This SNP is located 8.5 kb upstream of RAB7L1 (603949) and 5.6 kb downstream of SLC41A1 (610801). SNPs with significant associations to PD were found to lie within several linkage disequilibrium blocks containing 5 genes: SLC45A3 (605097), NUCKS1 (611912), RAB7L1, SLC41A1, and PM20D1 (617124). NUCKS1, RAB7L1, and SLC41A1 were contained in the same linkage disequilibrium block. The results suggested that the PARK16 locus has multiple independent association signals. Satake et al. (2009) also found strong associations with the SNCA gene (163890) on 4q22 (p = 7.35 x 10(-17)) and the LRRK2 gene (609007) on 12q12 (p = 2.72 x 10(-8)), both of which are implicated in autosomal dominant forms of parkinsonism (PARK1, 168601 and PARK8, 607060, respectively).
Simon-Sanchez et al. (2009) performed genomewide association studies in 1,713 individuals of European ancestry with PD and 3,978 controls, followed by replication in 3,361 cases and 4,573 controls. In collaboration with Satake et al. (2009), Simon-Sanchez et al. (2009) replicated the effect of the PARK16 locus (rs823128, OR = 0.66, p = 7.29 x 10(-8)), and found supporting evidence that common variation around LRRK2 modulates risk for PD (rs1491923, OR = 1.14, p = 1.55 x 10(-5)). However, association with the putative locus on 4p15 was not found in the European population. Overall, the data from both studies showed a role for common genetic variants in the etiology of typical PD, and suggested population-specific genetic heterogeneity in this disease. Simon-Sanchez et al. (2009) also identified association signals in the SNCA gene (rs2736990, OR = 1.23, p = 2.24 x 10(-16)) and the MAPT gene (157140) on 17q21 (rs393152, OR = 0.77, p = 1.95 x 10(-16)).
Tan et al. (2010) specifically analyzed 5 SNPs at the PARK16 locus in 433 PD patients and 916 controls, all of Chinese ethnicity. Significant disease associations were found for 3 SNPS: rs11240572, rs823128, and rs823156 with the most significant association at rs823156 (corrected p = 0.0161; OR, 0.77). However, rs16856139 and rs947211 failed to reach significance.
Vilarino-Guell et al. (2010) replicated the association between Parkinson disease and rs823128 in a cohort of 315 Taiwanese patients and 247 Taiwanese controls (p = 0.015). However, the association with this SNP was not significant in patients of European origin or those from Tunisia.
Mata et al. (2011) failed to find an association between rs823156 or rs947211 on chromosome 1q32 in a case-control study of 1,445 PD patients and 1,161 controls from northern Spain.
Molecular Genetics
### Associations Pending Confirmation
For discussion of a possible association between early-onset Parkinson disease with cognitive dysfunction and variation in the ADORA1 gene on chromosome 1q32, see 102775.0001.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
PARKINSON DISEASE 16
|
c2751012
| 8,682 |
omim
|
https://www.omim.org/entry/613164
| 2019-09-22T15:59:24 |
{"mesh": ["C567726"], "omim": ["613164"]}
|
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
## Epidemiology
The worldwide prevalence is estimated at around 1/1,000,000.
## Clinical description
The disease typically presents in the first two decades of life as a combination of nephronophthisis (NPH) with retinal degeneration. Depending on the genetic background either the visual disorder or chronic kidney disease determine the clinical picture. NPH typically presents with symptoms such as polyuria, polydipsia, secondary enuresis and anemia. Chronic kidney disease usually slowly progresses to end-stage kidney disease (ESKD). Ocular features include congenital or early-onset severe visual loss due to retinal dystrophy (Leber congenital amaurosis) or a milder phenotype determined by a slowly progressing tube-like restriction of visual fields and night blindness (tapeto-retinal degeneration). Funduscopy reveals various degrees of atrophic and pigmentary retinal alterations. In rare occasions, other additional clinical signs may be observed like liver fibrosis, obesity and neurologic disorders.
## Etiology
Senior-Loken syndrome (SLS) is a genetically heterogeneous ciliopathy. Mutations in 10 different genes (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8, WDR19, CEP164 and TRAF3IP1) have been described. These genes encode for proteins of the primary cilia playing key roles in the development and function of several cell types, including retinal photoreceptor and renal tubular epithelial cells. Epistatic interactions, oligogenic inheritance or modifying alleles have been also suggested to influence the expressivity of the different extrarenal phenotypes.
## Diagnostic methods
Complete renal (kidney function, urinary analysis and abdominal ultrasound) and ophthalmologic (funduscopy, visual acuity test, refraction defects, color vision test, ocular motility and electroretinogram) evaluations are recommended. Hepatic evaluation to exclude liver fibrosis (liver function and abdominal ultrasounds) and neurological examination for infant patients are also highly recommended. Genetic diagnosis of SLS requires the mutational screening of the implicated genes; deletion of the NPHP1 gene is the most common anomaly.
## Differential diagnosis
SLS presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPH and Joubert syndrome related diseases (JSRD) such as Joubert syndrome with oculorenal defect, Bardet-Biedl syndrome (BBS) and Alström syndrome. Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity). The phenotypic hallmark of JSRD is the presence of a 'molar tooth sign' (a midbrain-hindbrain malformation) on MRI. Other extrarenal signs to consider are nystagmus, psychomotor and learning delay, diabetes mellitus, deafness, hypogonadism, and/or scoliosis.
## Antenatal diagnosis
Prenatal diagnosis is feasible only when the genetic mutation has been previously identified in another member of the family.
## Genetic counseling
Transmission of SLS is autosomal recessive and genetic counseling should be offered to affected families. Where both parents are unaffected carriers, the risk of disease transmission to offspring is 25%. Offspring of an affected individual are obligate carriers.
## Management and treatment
Regular follow up by a pediatric nephrologist is recommended with the monitoring of growth, blood pressure, renal function (including urinary concentration and sodium excretion). In order to delay the progression of renal failure and minimize possible complications, early management of NPH is necessary. So far, there is no specific therapy correcting the genetic or functional defects in NPH. Thus, in the early stage of renal disease the main goal is the correction of water and electrolyte imbalances by replacing the ongoing loss of water and salt. Once end-stage renal disease is reached, dialysis and renal transplantation are the therapies of choice. Disease does not recur after kidney transplantation. No treatment is currently available to prevent the progression of visual loss.
## Prognosis
Prognosis mostly depends on the progression of the disease in the two affected organs (kidney and eye).
* European Reference Network
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Senior-Loken syndrome
|
c0403553
| 8,683 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3156
| 2021-01-23T18:14:47 |
{"gard": ["322"], "mesh": ["C537580"], "omim": ["266900", "606995", "606996", "609254", "610189", "613615", "614845", "616307", "616629"], "umls": ["C0403553"], "icd-10": ["Q61.5"], "synonyms": ["Nephronophthisis with retinal dystrophy", "Renal dysplasia-retinal aplasia syndrome", "SLSN"]}
|
A number sign (#) is used with this entry because of evidence that cerebellar atrophy with seizures and variable developmental delay (CASVDD) is caused by homozygous or compound heterozygous mutation in the CACNA2D2 gene (607082) on chromosome 3p21.
Description
Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging. Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder.
Clinical Features
Edvardson et al. (2013) reported 3 sibs, born of consanguineous Arab-Palestinian parents, with early infantile epileptic encephalopathy, global developmental delay, and cerebellar atrophy. The patients showed hypotonia at birth and developed refractory seizures in the first months of life. Seizure types included eye rolling and facial twitching, as well as atonic, clonic, and tonic attacks. EEG was consistent with epileptic encephalopathy and later evolved to slow background with multifocal spike and slow-wave discharges. Additional features included brisk reflexes and choreiform movements. The children had poor or absent eye contact, no speech, almost no psychomotor development, and absent purposeful hand movements. Brain imaging showed atrophy of the cerebellar vermis.
Pippucci et al. (2013) reported a 9-year-old boy, born of consanguineous Italian parents, with epileptic encephalopathy and cerebellar atrophy. The patient had a severe phenotype, presenting with seizures in the first months of life, followed by severely delayed psychomotor development, leg hypertonia, brisk reflexes, axial hypotonia, dyskinetic and myoclonic movements, no eye contact, and abnormal eye movements, such as oculomotor apraxia, strabismus, and nystagmus. He had multiple resistant seizure types, including clonic, partial, and absence. EEG showed multifocal spikes and slowed background activity. He also had facial dysmorphism, with epicanthus, arched palate, cupid's bow, and clinodactyly. Brain imaging showed cerebellar atrophy. Pippucci et al. (2013) noted the phenotypic similarities to the 'ducky' mouse (see ANIMAL MODEL).
Butler et al. (2018) reported a 5-year-old boy, born of unrelated parents, who was noted to have hypotonia and abnormal eye movements soon after birth. He developed refractory seizures at age 7 months. A ketogenic diet was partially effective, but various types of seizures recurred. EEG showed multifocal discharges, generalized spike-wave discharges, and later a photoparoxysmal response. He had global developmental delay, could sit with support but not walk, showed ataxic movements, had poor eye contact, and was nonverbal. Brain imaging showed cerebellar atrophy; dysmorphic features were not noted.
### Clinical Variability
Valence et al. (2019) reported a 20-year-old man (P12), born of consanguineous Portuguese parents, with cerebellar ataxia. Compared to previously reported patients with CACNA2D2 mutations, he had a mild phenotype. He had myoclonus at age 40 days, only a single febrile seizure at 12 months of age, and mild motor delay with walking achieved at 4 years of age. He had an ataxic gait, dysmetria, dysarthria, and cerebellar atrophy on brain imaging. Cognitive development was apparently normal and he did not have intellectual disability.
Inheritance
The transmission pattern of CASVDD in the family reported by Edvardson et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 sibs, born of consanguineous Arab-Palestinian parents, with CASVDD manifest as early infantile epileptic encephalopathy, Edvardson et al. (2013) identified a homozygous missense mutation in the CACNA2D2 gene (L1040P; 607082.0001). The variant, which was identified by linkage analysis combined with whole-exome sequencing, was not found in 102 controls or in 6,503 control exomes. In vitro expression studies in Xenopus oocytes showed that the variant had detrimental effects on channel function. Exome sequencing in 1 of the 3 affected sibs also identified a homozygous missense variant in the CELSR3 gene (M2630I; 604264.0001). This variant also segregated with the disease state in the family. Edvardson et al. (2013) could not exclude a role for the CELSR3 mutation in the epileptic phenotype in this family.
In a 9-year-old boy, born of consanguineous Italian parents, with CASVDD manifest as epileptic encephalopathy, Pippucci et al. (2013) identified a homozygous frameshift mutation in the CACNA2D2 gene (607082.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient muscle cells showed almost absent CACNA2D2 protein levels (less than 3% of controls). Genetic analysis also identified a homozygous missense variant in the CELSR3 gene (G2136D; 604264.0002) that segregated with the disorder in the family. However, calculation of statistical significance of the CELSR3 variant suggested that it was likely an incidental finding. Pippucci et al. (2013) noted the phenotypic similarities to the 'ducky' mouse (see ANIMAL MODEL).
In a 5-year-old boy, born of unrelated parents, with CASVDD, Butler et al. (2018) identified compound heterozygous missense mutations at highly conserved residues in the CACNA2D2 gene (P261L, 607082.0003 and L1046P, 607082.0004). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants and studies of patient cells were not performed. The patient also carried a heterozygous missense variant in the CELSR3 gene (Q1758R) that is common in the general population and thought not to contribute to the phenotype.
In a 20-year-old Portuguese man (patient P12), born of consanguineous parents, with CASVDD, Valence et al. (2019) identified a homozygous splice site mutation in the CACNA2D2 gene (607082.0005). The authors hypothesized that the relatively mild phenotype in this patient may be due to production of significant amounts of the wildtype protein. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The patient was from a cohort of 20 probands from consanguineous families with cerebellar ataxia who underwent exome sequencing.
Animal Model
Brodbeck et al. (2002) showed that mice with the 'ducky' (du) mutation, a model for absence epilepsy (see 600131), had a mutation in Cacna2d2 gene. The mutation resulted in the introduction of a premature stop codon and the expression of a truncated protein encoded by the first 3 exons of Cacna2d2, followed by 8 novel amino acids. The shortened mRNA and protein were expressed in mutant mouse cerebellum and Purkinje cells. Brodbeck et al. (2002) detected high expression of the normal protein in cerebellar Purkinje cells, but found that ducky mice had abnormalities in their Purkinje cell dendritic trees. Functional analysis indicated that the mutant Cacna2d2 protein failed to increase or even decreased the peak current density of the voltage-gated Ca(V)2.1 (CACNA1A; 601011)/beta-4 (CACNB4; 601949) channel combination, suggesting that it may contribute to the ducky phenotype.
Brill et al. (2004) identified a recessive mouse phenotype, 'entla,' caused by an in-frame duplication of 39 amino acids in the Cacna2d2 gene, resulting in expression of a full-length, membrane-associated protein, but with loss of the disulfide linkage between the 2 derived proteins. Mutant mice developed ataxia by postnatal day 13 to 15 followed by paroxysmal dyskinesia. The mice showed reduced size and weight, increased mortality before weaning, and female infertility. EEG studies suggested absence epilepsy, with 2- and 4-Hz spike-wave discharges in the cortex and hippocampus. Cerebellar Purkinje cells isolated from mutant mice showed about a 50% reduction in current, as well as a reduction of gabapentin binding to the membrane compared to wildtype and to heterozygous mice. Entla (ent) mice showed no neuroanatomical abnormalities.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Dysmorphic facial features (1 patient) Eyes \- Abnormal eye movements \- Nystagmus \- Strabismus \- Poor eye contact MUSCLE, SOFT TISSUES \- Axial hypotonia \- Peripheral hypertonia NEUROLOGIC Central Nervous System \- Epileptic encephalopathy (in most patients) \- Global developmental delay (in most patients) \- Inability to walk (in most patients) \- Seizures, refractory, early-onset \- Multifocal discharges seen on EEG \- Background slowing seen on EEG \- Photoparoxysmal response seen on EEG \- Ataxic gait \- Ataxia \- Dysmetria \- Dysarthria \- Choreiform movements \- Dyskinetic movements \- Cerebellar vermis atrophy MISCELLANEOUS \- Onset in infancy \- Variable severity \- One patient with only a single seizure and normal cognitive development has been reported MOLECULAR BASIS \- Caused by mutation in the calcium channel, voltage-dependent, alpha-2/delta subunit 2 gene (CACNA2D2, 607082.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
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CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
|
None
| 8,684 |
omim
|
https://www.omim.org/entry/618501
| 2019-09-22T15:41:38 |
{"omim": ["618501"]}
|
Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also 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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Nasal encephalocele
|
c0014066
| 8,685 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141118
| 2021-01-23T18:29:48 |
{"umls": ["C0014066"], "icd-10": ["Q01.1"]}
|
Poly drug use
Caffeinated alcoholic beverages, such as this Vodka Red Bull are widespread and legal.
SpecialtyPsychiatry
Ayahuasca being prepared in the Napo region of Ecuador
Poly drug use (or polysubstance use) refers to the use of combined psychoactive substances to achieve a particular effect. In many cases one drug is used as a base or primary drug, with additional drugs to leaven or compensate for the side effects of the primary drug and make the experience more enjoyable with drug synergy effects, or to supplement for primary drug when supply is low.[1]
## Contents
* 1 Combinations
* 1.1 Dangerous interactions
* 2 Risks
* 3 Scheduling
* 4 Research
* 5 See also
* 6 References
* 7 External links
## Combinations[edit]
This section 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: "Poly drug use" – news · newspapers · books · scholar · JSTOR (August 2018) (Learn how and when to remove this template message)
Drug 2 Drug 3 Poly drug name[2][3] Intoxication name Comment
Any drug Black tar heroin Whoonga Widespread use in South Africa
Any drug Cannabis Amp joint Marijuana cigarette laced with some form of narcotic
Any drug Nicotine Cooler A cigarette laced with a drug
Any depressant Any stimulant Over and under
Any pharmaceutical Any pharmaceutical Polypharmacy. Pharming
2C-B MDMA Nexus Flip[4][5] Nexus Flipping
Alcohol Caffeine Caffeinated alcoholic drink
Alcohol Benzodiazepine Time flip
Alcohol Cannabis Herb and Al. Judgement Day Cross fading Called Judgement Day in Ghana when cannabis is added to the drink
Alcohol Cocaine Snow-coning Metabolized into cocaethylene
Amphetamine Cocaine Snow seals
Amphetamine Xanax Orange Dream Blossom Cloud Rush The combination is crushed together and insufflated
Banisteriopsis caapi β-Carbolines containing plants (e.g. Peganum harmala) Ayahuasca, changa Ayahuasca is drunk. Changa is smoked or vaped.
Barbiturates Alcohol Used to be common, when Barbiturates were more readily available
Caffeine Cannabis Hippie-speedballing
Caffeine Methamphetamine Biker's coffee. Kamikaze, ya ba
Cannabis Cocaine paste Bazooka
Cannabis Crack-cocaine Crack weed (less known: champagne, chronic, cocktail, dirty joint, fry daddy, gimmie, gremmies, juice joint, lace, oolies, p dog, primo, splitting, thirty eight, turbo, wollie, yeola) Cocoa puffs
Cannabis Crack-cocaine PCP Jim Jones
Cannabis DXM Nicotine Candy blunt
Cannabis Heroin Atom bomb, stuff
Cannabis Heroin or opium A-bomb
Cannabis Opium Buddha
Cannabis PCP Killer weed (less known: Bionic, clickums, donk, dust blunt, illies, illing, leak, love leaf, lovelies, parsley, wet, zoom) Wet is cannabis dipped in PCP
Cannabis Nicotine Blunt, joint, spliff A rolled marijuana cigarette usually made with rolling paper. A blunt is a cigar hollowed out and filled with marijuana. It is rolled with the tobacco-leaf "wrapper" from an inexpensive cigar. Blunts take their name from Phillies Blunt brand cigars.
Cocaine Heroin Snowball. Other names: Belushi, bombita, murder one, whiz bang Snowballing
Cocaine Heroin LSD Frisco special
Cocaine Heroin Nicotine flamethrower, primos Cigarette laced with cocaine and heroin
Cocaine Heroin or morphine Powerball, speedball Powerballing, speedballing Speedballing, powerballing is often used to describe intravenous use. The term can also be applied to use of pharmaceutical opioids, benzodiazepines or barbiturates along with stimulants.
Cocaine Ketamine CK1, Calvin Klein, cable
Cocaine LSD Cracid (or outer limits) Cracid is a portmanteau of cocaine and acid
Cocaine Morphine C & M
Cocaine PCP Space, whack
Codeine Glutethimide Pancakes and syrups Combination of glutethimide and codeine cough syrup
Codeine Promethazine Purple drank
Crack-cocaine Fentanyl Dirty fentanyl, takeover
Crack-cocaine Heroin Chocolate rock, dragon rock, eightball, moonrock, smoking gun, tar
Crack-cocaine LSD Outerlimits
Crack-cocaine Methamphetamine Fire, twisters
Crack-cocaine PCP Nicotine Ozone PCP and crack cigarette
Crack-cocaine PCP Missile basing, P-funk, space basing, spaceball, space cadet, space dust, tragic magic
Crack-cocaine Nicotine Coolie, crimmie, woolas A cigarette laced with crack
DMT MAOIs Pharmahuasca
DXM LSD LSDXM
DXM Psilocybin or psilocybin mushroom Cherry-bombing
Fentanyl Heroin Birria, chiva loca, Facebook Facebook is mixed in a pill form
GHB Methamphetamine Cherry meth
Hashish Belladonna Alamout black hash[6] Mixed
Hashish LSD Royal temple ball The hashish is mixed with LSD and rolled into a ball intended for oral use, because LSD cannot be smoked.
Hashish Opium Black hash, black Russian
Heroin Methamphetamine Goofball
Heroin Morphine New Jack swing
Heroin PCP Alien sex fiend
Heroin Xylazine Anestesiade caballo Xylazine is a horse anesthetic
LSD Marijuana Amphetamine Hippie heart attack
LSD MDMA 2C-B Granny Flip, Coiled Flip
LSD Nitrous oxide Gasid
LSD Ketamine Dolphin flip
LSD PCP Black acid
LSD Psilocybin or psilocybin mushroom God's flesh
Psilocybin or psilocybin mushroom DMT Terence flip
LSD DMT Cosmo flip Cosmo flipping
MDMA Alcohol Tipsy flip Tipsy flipping
MDMA Cannabis Stoner flip Stoner flipping
MDMA Cocaine Sugar flip Sugar flipping
MDMA Cocaine LSD Candy-flip on a string Candy-flipping on a string
MDMA DMT Shaman flip, time flip Shaman flipping, time flipping
MDMA DXM Robo flip Robo flipping
MDMA GHB Gamma flip Gamma flipping
MDMA Ketamine Kitty flip[4] Kitty flipping
MDMA LSD Candy flip Candy flipping
MDMA LSD Ketamine Holy Trident Holy Tridenting
MDMA LSD Psilocybin or psilocybin mushroom Jedi flip,[4] twilight flip Jedi flipping, twilight flipping
MDMA Mescaline or psychoactive cactus Love flip, love trip Love flipping
MDMA Methadone Chocolate flip Chocolate flipping
MDMA Methamphetamine Trailer flip Trailer flipping
MDMA Nitrous oxide Nox
MDMA Opiates Poppy flip Poppy flipping
MDMA PCP Domex, elephant flip Elephant flipping
MDMA Psilocybin or psilocybin mushroom Hippy flip,[4] flower flip, ethno flip Hippy flipping, flower flipping, ethno flipping
MDMA Sildenafil Sextasy (or hammerheading)
Nicotine PCP Chipping
### Dangerous interactions[edit]
Tripsit Drug Combination Chart new
MDMA + LSD + KETAMINE = HOLY TRIDENT
## Risks[edit]
Tranquillizers, sleeping pills, opiates and alcohol. Opioid-related deaths often involve alcohol.
Poly drug use often carries with it more risk than use of a single drug, due to an increase in side effects, and drug synergy. The potentiating effect of one drug on another is sometimes considerable and here the licit drugs and medicines – such as alcohol, nicotine and antidepressants – have to be considered in conjunction with the controlled psychoactive substances. The risk level will depend on the dosage level of both substances. If the drugs taken are illegal, they have a chance of being mixed (also known as "cutting") with other substances which dealers are reported to do to increase the perceived quantity when selling to others to increase their returns. This is particularly common with powdered drugs such as cocaine or MDMA which can be mixed with relative ease by adding another white powdery substance to the drug. This cumulative effect can lead to further unintended harm to health dependent on what is being covertly added. Concerns also exist about a number of pharmacological pairings: alcohol and cocaine increase cardiovascular toxicity; alcohol or depressant drugs, when taken with opioids, lead to an increased risk of overdose; and opioids or cocaine taken with ecstasy or amphetamines also result in additional acute toxicity.[7] Benzodiazepines can cause death when mixed with other CNS depressants such as opioids, alcohol, or barbiturates.[8][9][10]
A spoonful of promethazine/codeine syrup showing the characteristic purple color that gave rise to the name purple drank.
## Scheduling[edit]
Within the general concept of multiple drug use, several specific meanings of the term must be considered. At one extreme is planned use, where the effects of more than one drug are taken for a desired effect. Another type is when other drugs are used to counteract the negative side effects of a different drug (e.g. depressants are used to counteract anxiety and restlessness from taking stimulants). On the other hand, the use of several substances in an intensive and chaotic way, simultaneously or consecutively, in many cases each drug substituting for another according to availability.[7]
## Research[edit]
The phenomenon is the subject of established academic literature.[11]
A study among treatment admissions found that it is more common for younger people to report polydrug drug use.[12]
## See also[edit]
* Drug overdose
* Recreational drug use
* Responsible drug use
* Speedball (drug)
## References[edit]
1. ^ "Polydrug use | www.emcdda.europa.eu". www.emcdda.europa.eu.
2. ^ Copping, Jasper (8 November 2009). "Drug slang: what police must learn A to B".
3. ^ https://ndews.umd.edu/sites/ndews.umd.edu/files/dea-drug-slang-terms-and-code-words-july2018.pdf
4. ^ a b c d Nolan, James. "'Kitty Flipping' and the Psychonaut Obsession with Mixing Drugs". VICE.com. Retrieved 16 July 2020.
5. ^ "What is 2C-B? The Complete and Honest Explainer". Double Blind. Retrieved 16 July 2020.
6. ^ "Erowid Drug Slang & Terminology Vault : A - B". erowid.org.
7. ^ a b "EMCDDA Annual Report 2006 ch. 8".
8. ^ Serfaty M, Masterton G (1993). "Fatal poisonings attributed to benzodiazepines in Britain during the 1980s". Br J Psychiatry. 163 (3): 386–93. doi:10.1192/bjp.163.3.386. PMID 8104653.
9. ^ Buckley NA, Dawson AH, Whyte IM, O'Connell DL (1995). "[Relative toxicity of benzodiazepines in overdose.]". BMJ. 310 (6974): 219–21. doi:10.1136/bmj.310.6974.219. PMC 2548618. PMID 7866122.
10. ^ Drummer OH; Ranson DL (December 1996). "Sudden death and benzodiazepines". Am J Forensic Med Pathol. 17 (4): 336–42. doi:10.1097/00000433-199612000-00012. PMID 8947361.
11. ^ Scholey AB, Parrott AC, Buchanan T, Heffernan TM, Ling J, Rodgers J (June 2004). "Increased intensity of Ecstasy and polydrug usage in the more experienced recreational Ecstasy/MDMA users: a WWW study" (PDF). Addict Behav. 29 (4): 743–52. doi:10.1016/j.addbeh.2004.02.022. PMID 15135556.
12. ^ "Polydrug Use Among Treatment Admissions: 1998." OAS Home: Alcohol, Tobacco & Drug Abuse and Mental Health Data from SAMHSA, Office of Applied Studies. Web. 29 Sept. 2011. [1]
## External links[edit]
Classification
D
* ICD-10: F19
* v
* t
* e
Recreational drug use
Major
recreational
drugs
Depressants
* Barbiturates
* Benzodiazepines
* Carbamates
* Ethanol (alcohol)
* Alcoholic drinks
* Beer
* Wine
* Gabapentinoids
* GHB
* Inhalants
* Medical
* Nitrous oxide
* Hazardous solvents
* contact adhesives
* Gasoline
* nail polish remover
* Paint thinner
* Other
* Freon
* Kava
* Nonbenzodiazepines
* Quinazolinones
Opioids
* Buprenorphine
* Suboxone
* Subutex
* Codeine
* Desomorphine
* Krokodil
* Dextropropoxyphene
* Darvocet
* Darvon
* Fentanyl
* Diamorphine
* Heroin
* Hydrocodone
* Hydromorphone
* Dilaudid
* Methadone
* Mitragyna speciosa
* Kratom
* Morphine
* Opium
* Oxycodone
* /paracetamol
* Tramadol
Stimulants
* Amphetamine
* Arecoline
* Areca
* Betel
* Caffeine
* Coffee
* Energy drinks
* Tea
* Cathinone
* Khat
* Cocaine
* Coca
* Crack
* Ephedrine
* Ephedra
* MDPV
* Mephedrone
* Methamphetamine
* Methylone
* Methylphenidate
* Modafinil
* Nicotine
* Tobacco
* Theobromine
* Cocoa
* Chocolate
Entactogens
* 2C series
* 6-APB
* Benzofury
* AMT
* MDA
* MDMA
* Ecstasy
Hallucinogens
Psychedelics
* Bufotenin
* Psychoactive toads
* Vilca
* Yopo
* DMT
* Ayahuasca
* LSA
* LSD-25
* Mescaline
* Peruvian torch
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* t
* e
Combined substance use and adulteration
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Harm reduction
* Pill testing
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Poly drug use
|
None
| 8,686 |
wikipedia
|
https://en.wikipedia.org/wiki/Poly_drug_use
| 2021-01-18T18:57:23 |
{"icd-10": ["F19"], "wikidata": ["Q1639827"]}
|
A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Isolated cerebellar vermis agenesis
|
None
| 8,687 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=269203
| 2021-01-23T17:27:50 |
{"icd-10": ["Q04.3"]}
|
Not to be confused with laryngitis.
Pharyngitis
Other namesAcute sore throat
Viral pharyngitis resulting in visible redness.
Pronunciation
* /færɪnˈdʒaɪtɪs/
SpecialtyInfectious disease
SymptomsSore throat, fever, runny nose, cough, headache, hoarse voice[1][2]
ComplicationsSinusitis, acute otitis media[2]
Duration3–5 days[2]
CausesUsually viral infection[2]
Diagnostic methodBased on symptoms, rapid antigen detection test, throat swab[2]
Differential diagnosisEpiglottitis, thyroiditis, retropharyngeal abscess[2]
TreatmentNSAIDs, lidocaine[2][3]
Frequency~7.5% of people in any 3-month period[4]
Pharyngitis is inflammation of the back of the throat, known as the pharynx.[2] It typically results in a sore throat and fever.[2] Other symptoms may include a runny nose, cough, headache, difficulty swallowing, swollen lymph nodes, and a hoarse voice.[1][5] Symptoms usually last 3–5 days.[2] Complications can include sinusitis and acute otitis media.[2] Pharyngitis is a type of upper respiratory tract infection.[6]
Most cases are caused by a viral infection.[2] Strep throat, a bacterial infection, is the cause in about 25% of children and 10% of adults.[2] Uncommon causes include other bacteria such as gonorrhea, fungus, irritants such as smoke, allergies, and gastroesophageal reflux disease.[2][3] Specific testing is not recommended in people who have clear symptoms of a viral infection, such as a cold.[2] Otherwise, a rapid antigen detection test (RADT) or throat swab is recommended.[2] Other conditions that can produce similar symptoms include epiglottitis, thyroiditis, retropharyngeal abscess, and occasionally heart disease.[2]
NSAIDs, such as ibuprofen, can be used to help with the pain.[2] Numbing medication, such as topical lidocaine, may also help.[3] Strep throat is typically treated with antibiotics, such as either penicillin or amoxicillin.[2] If steroids are useful in acute pharyngitis, other than possibly in severe cases, is unclear but a recent (2020) review found that when used in combination with antibiotics they moderately improved pain and the likelihood of resolution.[7][8]
About 7.5% of people have a sore throat in any 3-month period.[4] Two or three episodes in a year are not uncommon.[1] This resulted in 15 million physician visits in the United States in 2007.[3] Pharyngitis is the most common cause of a sore throat.[9] The word comes from the Greek word pharynx meaning "throat" and the suffix -itis meaning "inflammation".[10][11]
## Contents
* 1 Classification
* 2 Cause
* 2.1 Viral
* 2.2 Bacterial
* 2.3 Fungal
* 2.4 Noninfectious
* 3 Diagnosis
* 4 Management
* 4.1 Medications
* 4.2 Alternative
* 5 Epidemiology
* 6 References
* 7 External links
## Classification[edit]
A normal throat
Pharyngitis is a type of inflammation caused by an upper respiratory tract infection. It may be classified as acute or chronic. Acute pharyngitis may be catarrhal, purulent, or ulcerative, depending on the causative agent and the immune capacity of the affected individual. Chronic pharyngitis may be catarrhal, hypertrophic, or atrophic.[citation needed]
Tonsillitis is a subtype of pharyngitis.[12] If the inflammation includes both the tonsils and other parts of the throat, it may be called pharyngotonsillitis or tonsillopharyngitis.[13] Another subclassification is nasopharyngitis (the common cold).[14]
## Cause[edit]
Most cases are due to an infectious organism acquired from close contact with an infected individual.[citation needed]
### Viral[edit]
Exudative pharyngitis in a person with infectious mononucleosis
These comprise about 40–80% of all infectious cases and can be a feature of many different types of viral infections.[9][15]
* Adenovirus is the most common of the viral causes. Typically, the degree of neck lymph node enlargement is modest and the throat often does not appear red, although it is painful.
* The family Orthomyxoviridae which cause influenza are present with rapid onset high temperature, headache, and generalized ache. A sore throat may be associated.
* Infectious mononucleosis ("glandular fever") is caused by the Epstein–Barr virus. This may cause significant lymph-node swelling and an exudative tonsillitis with marked redness and swelling of the throat. The heterophile test can be used if this is suspected.
* Herpes simplex virus can cause multiple mouth ulcers.
* Measles
* Common cold: rhinovirus, coronavirus, respiratory syncytial virus, and parainfluenza virus can cause infection of the throat, ear, and lungs causing standard cold-like symptoms and often pain.
### Bacterial[edit]
A number of different bacteria can infect the human throat. The most common is group A streptococcus (Streptococcus pyogenes), but others include Streptococcus pneumoniae, Haemophilus influenzae, Bordetella pertussis, Bacillus anthracis, Corynebacterium diphtheriae, Neisseria gonorrhoeae, Chlamydophila pneumoniae, Mycoplasma pneumoniae, and Fusobacterium necrophorum.[16]
Streptococcal pharyngitis
Main article: Streptococcal pharyngitis
A case of strep throat
Streptococcal pharyngitis or strep throat is caused by a group A beta-hemolytic streptococcus (GAS).[17] It is the most common bacterial cause of cases of pharyngitis (15–30%).[16] Common symptoms include fever, sore throat, and large lymph nodes. It is a contagious infection, spread by close contact with an infected individual. A definitive diagnosis is made based on the results of a throat culture. Antibiotics are useful to both prevent complications (such as rheumatic fever) and speed recovery.[18]
Fusobacterium necrophorum
Fusobacterium necrophorum is a normal inhabitant of the oropharyngeal flora and can occasionally create a peritonsillar abscess. In one out of 400 untreated cases, Lemierre's syndrome occurs.[19]
Diphtheria
Diphtheria is a potentially life-threatening upper respiratory infection caused by Corynebacterium diphtheriae, which has been largely eradicated in developed nations since the introduction of childhood vaccination programs, but is still reported in the Third World and increasingly in some areas in Eastern Europe. Antibiotics are effective in the early stages, but recovery is generally slow.[citation needed]
Others
A few other causes are rare, but possibly fatal, and include parapharyngeal space infections: peritonsillar abscess ("quinsy abscess"), submandibular space infection (Ludwig's angina), and epiglottitis.[20][21][22]
### Fungal[edit]
Some cases of pharyngitis are caused by fungal infection, such as Candida albicans, causing oral thrush.[23]
### Noninfectious[edit]
Pharyngitis may also be caused by mechanical, chemical, or thermal irritation, for example cold air or acid reflux. Some medications may produce pharyngitis, such as pramipexole and antipsychotics.[24][25]
## Diagnosis[edit]
Modified Centor score Points Probability of Strep Management
1 or less <10% No antibiotic or culture needed
2 11–17% Antibiotic based on culture or rapid antigen detection test
3 28–35%
4 or 5 52% Empiric antibiotics
Throat swab
Differentiating a viral and a bacterial cause of a sore throat based on symptoms alone is difficult.[26] Thus, a throat swab often is done to rule out a bacterial cause.[27]
The modified Centor criteria may be used to determine the management of people with pharyngitis. Based on five clinical criteria, it indicates the probability of a streptococcal infection.[18]
One point is given for each of the criteria:[18]
* Absence of a cough
* Swollen and tender cervical lymph nodes
* Temperature more than 38.0 °C (100.4 °F)
* Tonsillar exudate or swelling
* Age less than 15 (a point is subtracted if age is more than 44)
The Infectious Disease Society of America recommends against empirical treatment and considers antibiotics only appropriate following positive testing.[26] Testing is not needed in children under three, as both group A strep and rheumatic fever are rare, except if they have a sibling with the disease.[26]
## Management[edit]
The majority of the time, treatment is symptomatic. Specific treatments are effective for bacterial, fungal, and herpes simplex infections.
### Medications[edit]
* Pain medication, such as NSAIDs and acetaminophen (paracetamol), can help reduce the pain associated with a sore throat. Aspirin may be used in adults, but is not recommended in children due to the risk of Reye syndrome.[28]
* Steroids (such as dexamethasone) may be useful for severe pharyngitis.[29][8] Their general use, however, is poorly supported.[7]
* Viscous lidocaine relieves pain by numbing the mucous membranes.[30]
* Antibiotics are useful if a bacterial infection is the cause of the sore throat.[31][32] For viral infections, antibiotics have no effect. In the United States, they are used in 25% of people before a bacterial infection has been detected.[33]
* Oral analgesic solutions, the active ingredient is usually phenol, but also less commonly benzocaine, cetylpyridinium chloride, and/or menthol. Chloraseptic and Cepacol are two examples of brands of these kinds of analgesics.[citation needed]
### Alternative[edit]
See also: Alternative treatments used for the common cold
Gargling salt water is often suggested, but evidence of its usefulness is lacking.[3] Alternative medicines are promoted and used for the treatment of sore throats.[34] However, they are poorly supported by evidence.[34]
## Epidemiology[edit]
Acute pharyngitis is the most common cause of a sore throat and, together with cough, it is diagnosed in more than 1.9 million people a year in the United States.[9]
## References[edit]
1. ^ a b c Rutter, Paul Professor; Newby, David (2015). Community Pharmacy ANZ: Symptoms, Diagnosis and Treatment. Elsevier Health Sciences. p. 19. ISBN 9780729583459. Archived from the original on 8 September 2017.
2. ^ a b c d e f g h i j k l m n o p q r s Hildreth, AF; Takhar, S; Clark, MA; Hatten, B (September 2015). "Evidence-Based Evaluation And Management Of Patients With Pharyngitis In The Emergency Department". Emergency Medicine Practice. 17 (9): 1–16, quiz 16–7. PMID 26276908.
3. ^ a b c d e Weber, R (March 2014). "Pharyngitis". Primary Care. 41 (1): 91–8. doi:10.1016/j.pop.2013.10.010. PMC 7119355. PMID 24439883.
4. ^ a b Jones, Roger (2004). Oxford Textbook of Primary Medical Care. Oxford University Press. p. 674. ISBN 9780198567820. Retrieved 4 August 2016.
5. ^ Neville, Brad W.; Damm, Douglas D.; Allen, Carl M.; Chi, Angela C. (2016). Oral and maxillofacial pathology (4th ed.). St. Louis, MO: Elsevier. p. 166. ISBN 9781455770526. OCLC 908336985.
6. ^ "Pharyngitis". National Library of Medicine. Archived from the original on 20 May 2016. Retrieved 4 August 2016.
7. ^ a b Principi, N; Bianchini, S; Baggi, E; Esposito, S (February 2013). "No evidence for the effectiveness of systemic corticosteroids in acute pharyngitis, community-acquired pneumonia and acute otitis media". European Journal of Clinical Microbiology & Infectious Diseases. 32 (2): 151–60. doi:10.1007/s10096-012-1747-y. PMC 7087613. PMID 22993127.
8. ^ a b de Cassan, Simone; Thompson, Matthew J.; Perera, Rafael; Glasziou, Paul P.; Del Mar, Chris B.; Heneghan, Carl J.; Hayward, Gail (1 May 2020). "Corticosteroids as standalone or add-on treatment for sore throat". The Cochrane Database of Systematic Reviews. 5: CD008268. doi:10.1002/14651858.CD008268.pub3. ISSN 1469-493X. PMC 7193118. PMID 32356360.
9. ^ a b c Marx, John (2010). Rosen's emergency medicine: concepts and clinical practice (7th ed.). Philadelphia, Pennsylvania: Mosby/Elsevier. Chapter 30. ISBN 978-0-323-05472-0.
10. ^ Beachey, Will (2013). Respiratory Care Anatomy and Physiology, Foundations for Clinical Practice,3: Respiratory Care Anatomy and Physiology. Elsevier Health Sciences. p. 5. ISBN 978-0323078665. Archived from the original on 8 September 2017.
11. ^ Hegner, Barbara; Acello, Barbara; Caldwell, Esther (2009). Nursing Assistant: A Nursing Process Approach – Basics. Cengage Learning. p. 45. ISBN 9781111780500. Archived from the original on 8 September 2017.
12. ^ "Tonsillitis". Archived from the original on 25 March 2016. Retrieved 4 August 2016.
13. ^ Rafei K, Lichenstein R (2006). "Airway Infectious Disease Emergencies". Pediatric Clinics of North America. 53 (2): 215–242. doi:10.1016/j.pcl.2005.10.001. PMID 16574523.
14. ^ "www.nlm.nih.gov". Archived from the original on 17 November 2015.
15. ^ Acerra JR. "Pharyngitis". eMedicine. Archived from the original on 17 March 2010. Retrieved 28 April 2010.
16. ^ a b Bisno AL (January 2001). "Acute pharyngitis". N Engl J Med. 344 (3): 205–11. doi:10.1056/NEJM200101183440308. PMID 11172144.
17. ^ Baltimore RS (February 2010). "Re-evaluation of antibiotic treatment of streptococcal pharyngitis". Curr. Opin. Pediatr. 22 (1): 77–82. doi:10.1097/MOP.0b013e32833502e7. PMID 19996970. S2CID 13141765.
18. ^ a b c Choby BA (March 2009). "Diagnosis and treatment of streptococcal pharyngitis". Am Fam Physician. 79 (5): 383–90. PMID 19275067. Archived from the original on 8 February 2015.
19. ^ Centor RM (1 December 2009). "Expand the pharyngitis paradigm for adolescents and young adults". Ann Intern Med. 151 (11): 812–5. CiteSeerX 10.1.1.669.7473. doi:10.7326/0003-4819-151-11-200912010-00011. PMID 19949147. S2CID 207535809.
20. ^ "UpToDate Inc". Archived from the original on 27 June 2009. (registration required)
21. ^ Reynolds SC, Chow AW (September–October 2009). "Severe soft tissue infections of the head and neck: a primer for critical care physicians". Lung. 187 (5): 271–9. doi:10.1007/s00408-009-9153-7. PMID 19653038. S2CID 9009912.
22. ^ Bansal A, Miskoff J, Lis RJ (January 2003). "Otolaryngologic critical care". Crit Care Clin. 19 (1): 55–72. doi:10.1016/S0749-0704(02)00062-3. PMID 12688577.
23. ^ Harvard Medical School. "Sore Throat (Pharyngitis)". Harvard Health Publishing Harvard Medical School. Harvard Health Publishing. Retrieved 3 December 2019.
24. ^ "Mirapex product insert" (PDF). Boehringer Ingelheim. 2009. Archived (PDF) from the original on 14 June 2010. Retrieved 30 June 2010.
25. ^ "Mosby's Medical Dictionary, 8th edition". Elsevier. 2009. Retrieved 30 June 2010.
26. ^ a b c Shulman ST, Bisno AL, Clegg HW, Gerber MA, Kaplan EL, Lee G, Martin JM, Van Beneden C (9 September 2012). "Clinical Practice Guideline for the Diagnosis and Management of Group A Streptococcal Pharyngitis: 2012 Update by the Infectious Diseases Society of America". Clinical Infectious Diseases. 55 (10): e86–102. doi:10.1093/cid/cis629. PMC 7108032. PMID 22965026.
27. ^ Del Mar C (1992). "Managing sore throat: a literature review. I. Making the diagnosis". Med J Aust. 156 (8): 572–5. doi:10.5694/j.1326-5377.1992.tb121422.x. PMID 1565052.
28. ^ Baltimore RS (February 2010). "Re-evaluation of antibiotic treatment of streptococcal pharyngitis". Current Opinion in Pediatrics. 22 (Curr. Opin. Pediatr. 22 (1)): 77–82. doi:10.1097/MOP.0b013e32833502e7. PMID 19996970. S2CID 13141765.
29. ^ Hayward G, Thompson M, Heneghan C, Perera R, Del Mar C, Glasziou P (2009). "Corticosteroids for pain relief in sore throat: systematic review and meta-analysis". BMJ. 339: b2976. doi:10.1136/bmj.b2976. PMC 2722696. PMID 19661138.
30. ^ "LIDOCAINE VISCOUS (Xylocaine Viscous) side effects, medical uses, and drug interactions". Archived from the original on 8 April 2010.
31. ^ Kocher, JJ; Selby, TD (1 July 2014). "Antibiotics for sore throat". American Family Physician. 90 (1): 23–4. PMID 25077497.
32. ^ Spinks, A; Glasziou, PP; Del Mar, CB (5 November 2013). "Antibiotics for sore throat". The Cochrane Database of Systematic Reviews. 11 (11): CD000023. doi:10.1002/14651858.CD000023.pub4. PMC 6457983. PMID 24190439.
33. ^ Urkin, J; Allenbogen, M; Friger, M; Vinker, S; Reuveni, H; Elahayani, A (November 2013). "Acute pharyngitis: low adherence to guidelines highlights need for greater flexibility in managing paediatric cases". Acta Paediatrica. 102 (11): 1075–80. doi:10.1111/apa.12364. PMID 23879261. S2CID 24465793.
34. ^ a b "Sore throat: Self-care". Mayo Clinic. Archived from the original on 29 September 2007. Retrieved 17 September 2007.
## External links[edit]
Classification
D
* ICD-10: J02, J31.2
* ICD-9-CM: 462, 472.1
* MeSH: D010612
* DiseasesDB: 24580
External resources
* MedlinePlus: 000655
* eMedicine: emerg/419
Wikimedia Commons has media related to Pharyngitis.
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
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nasal septum
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tonsil
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Adenoid hypertrophy
Peritonsillar abscess
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pharynx
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Retropharyngeal abscess
larynx
Croup
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vocal cords
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epiglottis
Epiglottitis
trachea
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(including LRTIs)
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obstructive
acute
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* v
* t
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Symptoms
* Cough
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* Weakness
Complications
* Acute bronchitis
* Bronchiolitis
* Croup
* Otitis media
* Pharyngitis
* Pneumonia
* Sinusitis
* Strep throat
Drugs
* Antiviral drugs
* Pleconaril (experimental)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Pharyngitis
|
c0031350
| 8,688 |
wikipedia
|
https://en.wikipedia.org/wiki/Pharyngitis
| 2021-01-18T19:03:36 |
{"mesh": ["D010612"], "umls": ["C0001344", "C0031345", "C0155824", "C0031350"], "wikidata": ["Q2085267"]}
|
A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-38 (CILD38) is caused by homozygous or compound heterozygous mutation in the CFAP300 gene (618058) on chromosome 11q22.
Description
Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Clinical Features
Fassad et al. (2018) reported 3 boys from 2 unrelated families with CILD. One of the families was consanguineous and of Pakistani origin (family 1), whereas the other was nonconsanguineous and of Indian origin (family 2). The patients presented early in life with typical symptoms, including neonatal respiratory distress, chronic wet cough, and rhinitis. Studies of 1 patient showed decreased nasal nitric oxide. Dextrocardia or situs abnormalities were observed in all 3 patients. Dynamic examination of nasal respiratory epithelial cells showed completely immotile cilia, and ultrastructural analysis showed significant loss of both the inner and outer dynein arms of the cilia.
Hoben et al. (2018) reported 5 unrelated patients with CILD38. They had classic features of the disorder, including chronic sinusitis, chronic otitis media, and chronic lower respiratory tract infections, as well as bronchiectasis and mucus plugging. Three patients had neonatal respiratory distress syndrome, 1 patient had situs inversus totalis, and all patients had low nasal nitric oxide production. Two of the patients, a woman and a man, had infertility problems; the man had reduced numbers of sperm and immotility of sperm flagella. High-speed video-microscopy of nasal respiratory epithelial cells showed completely immotile cilia, and transmission electron microscopy analysis of respiratory cilia and sperm flagella showed defects in the outer and inner dynein arms.
Inheritance
The transmission pattern of CILD38 in the families reported by Fassad et al. (2018) and Hoben et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 patients from 2 unrelated families with CILD38, Fassad et al. (2018) identified homozygous or compound heterozygous mutations in the CFAP300 gene (618058.0001-618058.0003). The mutations, which were found by targeted next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variants were not performed, but patient nasal respiratory epithelial cells showed completely immotile cilia with significant loss of both the inner and outer dynein arms of the cilia, and immunostaining showed decreased levels of the outer dynein arm marker DNAH5 (603335) and the inner dynein arm marker DNALI1 (602135). The cilia had a normal 9+2 ultrastructure. The patients were part of a cohort of 161 unrelated individuals with primary ciliary dyskinesia who were screened.
In 5 unrelated patients with CILD38, Hoben et al. (2018) identified homozygous loss-of-function mutations in the CFAP300 gene (618058.0002, 618058.0004, and 618058.0005). Functional studies of the variants were not performed, but patient respiratory epithelial cells and sperm flagella showed immotile cilia with loss of the axonemal inner and outer dynein arms, and immunofluorescence studies showed absence of DNAH5 and DNAH9 (603330) in the outer dynein arms and absence of DNALI1 and DNAH6 (603336) in the inner dynein arms. The mutations were found by targeted exome sequencing of 15 probands with primary ciliary dyskinesia.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Otitis media, chronic \- Conductive hearing loss (in some patients) Nose \- Rhinitis CARDIOVASCULAR Heart \- Dextrocardia (in some patients) RESPIRATORY \- Neonatal respiratory distress \- Respiratory infections, chronic, due to defective ciliary clearance \- Chronic cough Nasopharynx \- Sinusitis, chronic Airways \- Chronic airway disease Lung \- Bronchiectasis ABDOMEN \- Situs inversus (in about 50% of patients) GENITOURINARY \- Infertility Internal Genitalia (Male) \- Asthenozoospermia \- Reduced sperm count LABORATORY ABNORMALITIES \- Absent inner and outer dynein arms of the cilia see on electron microscopy of patient respiratory epithelial cells \- Absence of ciliary motility \- Decreased nasal nitric oxide MISCELLANEOUS \- Onset in early infancy MOLECULAR BASIS \- Caused by mutation in the cilia- and flagella-associated protein 300 (CFAP300, 618058.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
CILIARY DYSKINESIA, PRIMARY, 38
|
c0022521
| 8,689 |
omim
|
https://www.omim.org/entry/618063
| 2019-09-22T15:43:48 |
{"mesh": ["D007619"], "omim": ["244400", "618063"], "orphanet": ["244"], "synonyms": ["CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS", "Alternative titles", "PCD"]}
|
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
## Epidemiology
Estimated prevalence at birth is between 1/380,000 and 1/235,000 live births. Males are generally affected and heterozygous females are carriers (usually asymptomatic).
## Clinical description
Patients are normal at birth. Psychomotor delay becomes evident within 3 to 6 months with a delay in head support and sitting, hypotonia and athetoid movements. Sandy urine in diapers or crystalluria with urinary tract obstruction are common forms of presentation. Patients have severe action dystonia with baseline hypotonia that may lead to an inability to stand up and walk, and involuntary movements (choreoathetosis and ballismus) associated with voluntary movements increased by stress but not evident at rest. Dysarthria, dysphagia, and opisthotonus are frequent. Spasticity, hyperreflexia and extensor plantar reflex appear later. Patients usually show mild to moderate intellectual deficit. Obsessive-compulsive self-mutilation (lip biting or finger chewing) can appear as soon as teeth are present, does not result from lack of sensation and may be associated with or aggravated by psychological stress. Aggressive behavior (i.e. spitting, abusive language) may be directed against family and friends. Megaloblastic anemia is frequent and may be severe. Microcytic anemia may occur. UAO may result in joint inflammation, gouty arthritis and urolithiasis. Renal failure or acidosis occur rarely.
## Etiology
LNS is caused by complete HPRT deficiency due to mutations in the HPRT1 gene (Xq26). UAO is due to deficient recycling and enhanced synthesis of purine bases. Megaloblastic anemia is supposed to be due to increased folic acid consumption but it does not respond to folic supplementation. The cause of neurological and behavioral symptoms is unknown. Several neurotransmitter disorders and a toxic effect of hypoxanthine excess have been advocated.
## Diagnostic methods
Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis.
## Differential diagnosis
Differential diagnoses include cerebral palsy, other causes of intellectual deficit, dystonia and self-injury including autism, Tourette syndrome, Cornelia de Lange syndrome (see these terms), idiopathic intellectual deficit, and severe psychiatric disorders.
## Antenatal diagnosis
Prenatal diagnosis by amniocentesis or chorionic villus sampling is possible if the mutation has been identified in the family.
## Genetic counseling
Inheritance is X-linked recessive and genetic counseling is essential.
## Management and treatment
UAO is managed with allopurinol, urine alkalinization, and hydration. Doses must be adjusted to avoid xanthine urolithiasis. There is no treatment for the neurological dysfunction. Spasticity and dystonia can be managed with benzodiazepines (diazepam, alprazolam) and gamma-aminobutyric acid inhibitors (baclofen, tizanidine). Physical rehabilitation (i.e. management of dysarthria and dysphagia), devices to enable hand control, walking aids, and posture management to prevent deformities are recommended. Self-injury requires physical restraints, behavioral and pharmaceutical treatment (gabapentin, carbamazepine).
## Prognosis
Patients may die from aspiration pneumonia or complications from chronic nephrolithiasis and renal failure. With optimal care, few patients live beyond 40 years and most are confined to a wheelchair.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Lesch-Nyhan syndrome
|
c0023374
| 8,690 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=510
| 2021-01-23T18:03:12 |
{"gard": ["7226"], "mesh": ["D007926"], "omim": ["300322", "308950"], "umls": ["C0023374"], "icd-10": ["E79.1"], "synonyms": ["HPRT complete deficiency", "HPRT deficiency grade IV", "Hypoxanthine guanine phosphoribosyltransferase complete deficiency", "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV"]}
|
Autoimmune encephalitis is a type of encephalitis that can result from a number of autoimmune diseases including:
* Rasmussen encephalitis
* Systemic lupus erythematosus
* Behcet's disease
* Hashimoto's encephalopathy
* Autoimmune limbic encephalitis[1]
* Sydenham's chorea
* PANS or PANDAS
## References[edit]
1. ^ Bhalla, D.; Godet, B.; Druet-Cabanac, M.; Preux, PM. (Jun 2011). "Etiologies of epilepsy: a comprehensive review". Expert Rev Neurother. 11 (6): 861–76. doi:10.1586/ern.11.51. PMID 21651333. S2CID 21190601.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Autoimmune encephalitis
|
c0393639
| 8,691 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_encephalitis
| 2021-01-18T18:33:56 |
{"gard": ["11979"], "mesh": ["C535841"], "umls": ["C0393639"], "icd-10": ["G04.81"], "wikidata": ["Q16918461"]}
|
A number sign (#) is used with this entry because of evidence that atrioventricular septal defect-3 (AVSD3) is caused by compound heterozygous mutation in the GJA1 gene (121014) on chromosome 6q22.
For a general phenotypic description and a discussion of genetic heterogeneity of atrioventricular septal defect, see AVSD1 (606215).
Molecular Genetics
In a pediatric heart transplant patient with an atrioventricular canal defect, Dasgupta et al. (2001) identified 4 substitutions in the GJA1 gene: 2 missense mutations and 2 silent polymorphisms (see 121014.0011).
Inheritance \- Autosomal dominant with variable expression and incomplete penetrance Misc \- Characteristic feature of Down syndrome Lab \- Superior axis and first-degree heart block on EKG \- Chararacteristic 4-chamber echocardiogram Lung \- Pulmonary hypertension Skin \- Cyanosis Cardiac \- Atrioventricular septal defect (AVSD) \- Ostium primum atrial septal defect \- Ventricular septum inlet defect \- Tricuspid and mitral valves are replaced by a single inlet valve \- Congestive failure \- Lower left sternal thrill and pansystolic murmur \- Poorly localized midsystolic murmur ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
ATRIOVENTRICULAR SEPTAL DEFECT 3
|
c1389018
| 8,692 |
omim
|
https://www.omim.org/entry/600309
| 2019-09-22T16:16:21 |
{"doid": ["0050651"], "mesh": ["C562831"], "omim": ["600309"], "orphanet": ["98722"]}
|
A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Gonococcal conjunctivitis
|
c0339166
| 8,693 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1482
| 2021-01-23T18:04:25 |
{"gard": ["2546"], "mesh": ["D009878"], "umls": ["C0339166"], "icd-10": ["A54.3+", "H13.1*"]}
|
Corticosteroid-induced lipodystrophy
SpecialtyDermatology
Corticosteroid-induced lipodystrophy (CIL) is a condition of abnormal fat deposition caused by corticosteroid medications.[1] Fat accumulates in the facial area ("moon face"), dorsocervical region ("buffalo hump"), and abdominal area ("pot belly" or "beer belly"), whereas the thickness of subcutaneous fat in the limbs is decreased.[1] The resulting appearance has been described as "Cushingoid",[1] in relation to the fact that it also occurs in individuals with Cushing's syndrome (abnormally high cortisol levels).[2] The condition is considered by patients to be the most distressing side effect caused by corticosteroids.[1]
Short-term therapy (<3 months) with 10 to 30 mg/day of a prednisone equivalent has been reported to be associated with Cushingoid traits in 15 to 40%.[1] Long-term therapy (>3 months) with corticosteroids has been associated with Cushingoid features in 32 to 83% of individuals.[1] However, these symptoms have mostly been diagnosed in a subjective and observer-dependent manner.[1] In a prospective study, the cumulative incidence of CIL with high-dose prednisone therapy was found to be 61% after 3 months, 65% after 6 months, 68% after 9 months, and 69% after 12 months.[1] One study found that even a very low dosage of prednisone of 5 mg/day was associated with symptoms of "Cushing's syndrome".[1] It has been said that data on risk factors for CIL, such as corticosteroid dosage or duration of therapy, is surprisingly sparse.[1] Possible risk factors for CIL include high residual cortisol secretion, decreased clearance of corticosteroids, female sex, younger age (<50 years), high initial body-mass index, and high caloric intake.[1]
CIL has been found to be usually reversible at prednisone-equivalent dosages of less than 10 mg/day.[1] A low-calorie diet may be considered to limit the risk of CIL or to attempt to reverse it.[1] CIL is not merely an aesthetic adverse effect, as it has been associated with features of metabolic syndrome such as insulin resistance, dyslipidemia, and high blood pressure.[1]
## See also[edit]
* Steroid dementia syndrome
* Steroid diabetes
* Steroid-induced osteoporosis
* Steroid induced skin atrophy
## References[edit]
1. ^ a b c d e f g h i j k l m n Fardet L, Kassar A, Cabane J, Flahault A (2007). "Corticosteroid-induced adverse events in adults: frequency, screening and prevention". Drug Saf. 30 (10): 861–81. doi:10.2165/00002018-200730100-00005. PMID 17867724.
2. ^ Pivonello R, Isidori AM, De Martino MC, Newell-Price J, Biller BM, Colao A (July 2016). "Complications of Cushing's syndrome: state of the art" (PDF). Lancet Diabetes Endocrinol. 4 (7): 611–29. doi:10.1016/S2213-8587(16)00086-3. PMID 27177728.
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Corticosteroid-induced lipodystrophy
|
None
| 8,694 |
wikipedia
|
https://en.wikipedia.org/wiki/Corticosteroid-induced_lipodystrophy
| 2021-01-18T18:58:55 |
{"wikidata": ["Q60789104"]}
|
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: "Combined hyperlipidemia" – news · newspapers · books · scholar · JSTOR (May 2009) (Learn how and when to remove this template message)
Combined hyperlipidemia
Other namesMultiple-type hyperlipoproteinemia
Combined hyperlipidemia is inherited in an autosomal dominant manner.
SpecialtyEndocrinology
Combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL.[1]:534 On lipoprotein electrophoresis (a test now rarely performed) it shows as a hyperlipoproteinemia type IIB. It is the most commonly inherited lipid disorder, occurring in around one in 200 persons. In fact, almost one in five individuals who develop coronary heart disease before the age of 60 have this disorder.
The elevated triglyceride levels (>5 mmol/l) are generally due to an increase in very low density lipoprotein (VLDL), a class of lipoproteins prone to cause atherosclerosis.
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Types
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Cause[edit]
Hereditary factors are the most common cause. A diet high in saturated fat and cholesterol increases blood cholesterol and triglyceride levels. Other disorders, such as diabetes mellitus, kidney disease, and hypothyroidism, may promote hypertriglyceridemia. Certain drugs, such as estrogen, corticosteroids, retinoids, protease inhibitors, thiazide diuretics, and beta-blockers, may cause hypertriglyceridemia. Obesity increases the risk of hyperlipidemia. Chronic, excessive alcohol use increases the risk of hypertriglyceridemia. Smoking and not exercising may lead to hyperlipidemia. Steroid uses, alcoholism, hypothyroidism, oral contraceptives, chronic kidney failure, hypopituitarism, and nephritic syndrome are other contributors to hyperlipidemia.
## Diagnosis[edit]
### Types[edit]
The two forms of this lipid disorder are:
* Familial combined hyperlipidemia (FCH) is the familial occurrence of this disorder, probably caused by decreased LDL receptor and increased ApoB.
* Acquired combined hyperlipidemia is extremely common in patients who suffer from other diseases from the metabolic syndrome ("syndrome X", incorporating diabetes mellitus type II, hypertension, central obesity and CH). Excessive free fatty acid production by various tissues leads to increased VLDL synthesis by the liver. Initially, most VLDL is converted into LDL until this mechanism is saturated, after which VLDL levels elevate.
## Treatment[edit]
Both conditions are treated with fibrate drugs, which act on the peroxisome proliferator-activated receptors (PPARs), specifically PPARα, to decrease free fatty acid production. Statin drugs, especially the synthetic statins (atorvastatin and rosuvastatin), can decrease LDL levels by increasing hepatic reuptake of LDL due to increased LDL-receptor expression.
## See also[edit]
* Hyperlipidemia
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
## External links[edit]
Classification
D
* ICD-10: E78.4
* ICD-9-CM: 272.4
* OMIM: 144250
External resources
* MedlinePlus: 000396
* v
* t
* e
Inborn error of lipid metabolism: dyslipidemia
Hyperlipidemia
* Hypercholesterolemia/Hypertriglyceridemia
* Lipoprotein lipase deficiency/Type Ia
* Familial apoprotein CII deficiency/Type Ib
* Familial hypercholesterolemia/Type IIa
* Combined hyperlipidemia/Type IIb
* Familial dysbetalipoproteinemia/Type III
* Familial hypertriglyceridemia/Type IV
* Xanthoma/Xanthomatosis
Hypolipoproteinemia
Hypoalphalipoproteinemia/HDL
* Lecithin cholesterol acyltransferase deficiency
* Tangier disease
Hypobetalipoproteinemia/LDL
* Abetalipoproteinemia
* Apolipoprotein B deficiency
* Chylomicron retention disease
Lipodystrophy
* Barraquer–Simons syndrome
Other
* Lipomatosis
* Adiposis dolorosa
* Lipoid proteinosis
* APOA1 familial renal amyloidosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Combined hyperlipidemia
|
c2712907
| 8,695 |
wikipedia
|
https://en.wikipedia.org/wiki/Combined_hyperlipidemia
| 2021-01-18T18:49:22 |
{"icd-9": ["272.4"], "icd-10": ["E78.4"], "orphanet": ["79211"], "wikidata": ["Q5150905"]}
|
Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Duplication of the pituitary gland
|
None
| 8,696 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314621
| 2021-01-23T17:53:52 |
{"icd-10": ["Q89.2"], "synonyms": ["DPG-plus syndrome", "Duplication of the pituitary gland-plus syndrome", "Hypophyseal duplication"]}
|
Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. The symptoms of this condition include low sodium (hyponatremia), too much potassium (hyperkalemia), and a condition where the body produces too much acid (metabolic acidosis). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal blood pressure.
Hypoaldosteronism may be described as hyporeninemic (low renin level) or hyperreninemic (high renin level) based on the amount of another chemical produced in the kidneys called renin. Hypoaldosteronism can be caused by other health conditions or medications. Individuals with diabetes, kidney disease, primary adrenal insufficiency, lead poisoning, or severe illness can develop hypoaldosteronism. Certain medications, such as non-steroidal anti-inflammatories, heparin or medications used to treat heart failure can cause hypoaldosteronism. There are rare forms of congenital hypoaldosteronism that can be inherited in families.
This condition is diagnosed based on the symptoms and confirmed by various blood tests (plasma renin activity, serum aldosterone, and serum cortisol) The exact incidence of hypoaldosteronism is unknown. This condition is treated depending on the underlying cause for the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Hypoaldosteronism
|
c0020595
| 8,697 |
gard
|
https://rarediseases.info.nih.gov/diseases/2874/hypoaldosteronism
| 2021-01-18T17:59:53 |
{"mesh": ["D006994"], "umls": ["C0020595"], "synonyms": []}
|
Genetic disease
Zori–Stalker–Williams syndrome
Other namesPectus excavatum, macrocephaly, short stature and dysplastic nail
Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance.
Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,[1] is a rare autosomal dominant[2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.[3][4] Further signs are known to be associated with this syndrome.[5]
The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.[1]
It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.[1]
## References[edit]
1. ^ a b c Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 \- Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
2. ^ Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics. 6: 116–122.
3. ^ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
4. ^ "Pectus excavatum macrocephaly dysplastic nails". Orphanet.
5. ^ ORPHANET - About rare diseases - About orphan drugs[permanent dead link]
## External links[edit]
Classification
D
* OMIM: 600399
* MeSH: C536728
External resources
* Orphanet: 2835
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome
Short stature
* 1q21.1 deletion syndrome
* Aarskog–Scott syndrome
* Cockayne syndrome
* Cornelia de Lange syndrome
* Dubowitz syndrome
* Noonan syndrome
* Robinow syndrome
* Silver–Russell syndrome
* Seckel syndrome
* Smith–Lemli–Opitz syndrome
* Snyder–Robinson syndrome
* Turner syndrome
Limbs
* Adducted thumb syndrome
* Holt–Oram syndrome
* Klippel–Trénaunay–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
* Caudal regression syndrome
* Ectromelia
* Sirenomelia
* VACTERL association
Overgrowth syndromes
* Beckwith–Wiedemann syndrome
* Proteus syndrome
* Perlman syndrome
* Sotos syndrome
* Weaver syndrome
* Klippel–Trénaunay–Weber syndrome
* Benign symmetric lipomatosis
* Bannayan–Riley–Ruvalcaba syndrome
* Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl
* Bardet–Biedl syndrome
* Laurence–Moon syndrome
Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
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
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
Zori–Stalker–Williams syndrome
|
c1838160
| 8,698 |
wikipedia
|
https://en.wikipedia.org/wiki/Zori%E2%80%93Stalker%E2%80%93Williams_syndrome
| 2021-01-18T18:36:59 |
{"gard": ["374"], "mesh": ["C563941", "C536728"], "umls": ["C2931302", "C1838160"], "orphanet": ["2835"], "wikidata": ["Q8074470"]}
|
A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract-1 (CAKUT1) is caused by heterozygous mutation in the DSTYK gene (612666) on chromosome 1q32.
Description
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (120330) (summary by Renkema et al., 2011).
### Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary Tract
Also see CAKUT2 (143400), caused by mutation in the TBX18 gene (604613) on chromosome 6q14, and CAKUT3 (618270), caused by mutation in the NRIP1 gene (602490) on chromosome 21q.
Clinical Features
Doray et al. (1999) studied a family in which affected individuals in 3 generations had renal dysplasia. The proband was a male fetus, found by ultrasonography at 15 weeks' gestation to have left renal agenesis and right multicystic kidney, absence of bladder, and oligohydramnios. After termination of the pregnancy, the absence of the left kidney was confirmed and numerous cysts were found in the right kidney as well as fibrosis. Whereas the mother was in good health, the father had unilateral renal agenesis which was discovered when he had arterial hypertension at the age of 25 years. The paternal grandfather and his brother had unilateral renal agenesis.
Sanna-Cherchi et al. (2007) studied 7 multiplex kindreds ascertained via an index case with a nonsyndromic solitary kidney or renal hypoplasia. Systemic ultrasonographic screening revealed that many family members harbored malformations such as solitary kidney, hypodysplasia, or ureteric abnormalities (in a total of 29 affected individuals). One large family from Sardinia (K100) had 8 affected individuals. Five had renal hypodysplasia, 1 had a solitary kidney, 1 had asymmetric kidneys, and 1 had infundibulopelvic stenosis. Two of these patients had associated ureteropelvic junction obstruction (UPJO) and 1 had hydrocalix. Three patients had chronic renal failure requiring dialysis.
Sanna-Cherchi et al. (2013) reported 7 unrelated patients with CAKUT; 6 were diagnosed between birth and age 5 years and 1 was diagnosed prenatally. The patients were of Italian or Mediterranean descent. Six had no family history, whereas the seventh had an affected sib. Four had ureteropelvic junction obstruction, 2 had renal hypodysplasia, and 1 had congenital hydronephrosis. Two patients had developed chronic renal failure. A few patients had additional findings, such as hypercalciuria and hearing loss.
Inheritance
The transmission pattern of CAKUT in a family (K100) reported by Sanna-Cherchi et al. (2007) was consistent with autosomal dominant inheritance and incomplete penetrance.
Bound (1943) described unilateral renal agenesis in a boy and his maternal uncle. Gorvoy et al. (1962) described 2 brothers with unilateral renal agenesis.
Buchta et al. (1973) suggested that hereditary renal adysplasia is autosomal dominant, even though the disorder is more common and more severe in males than in females. Buchta et al. (1973) suggested that bilateral renal agenesis is multifactorial with a recurrence risk in sibs of about 1%.
Fitch (1977) concluded that either bilateral or unilateral renal agenesis may be an expression of a single dominant gene.
Based on several affected families, McPherson et al. (1987) concluded that renal adysplasia is most often autosomal dominant with penetrance between 50% and 90%. They estimated an empiric risk of bilateral severe renal adysplasia to be 15 to 20% in the offspring of affected or obligate heterozygotes.
Li Volti et al. (2002) described 3 Sicilian families in which unilateral renal adysplasia was present in 2 consecutive generations.
Cytogenetics
Kidney anomalies consistent with hereditary renal adysplasia were present in the Vancouver family with schizophrenia and segmental aberration of chromosome 5 described by McGillivray et al. (1990).
Mapping
By a genomewide scan in 7 multiplex kindreds segregating nonsyndromic renal hypodysplasia, Sanna-Cherchi et al. (2007) identified significant linkage to a 6.9-Mb segment on 1p33-p32 under an autosomal dominant model with reduced penetrance (peak lod score 3.5 at D1S2652 in the largest kindred). Altogether, 3 of the 7 families showed positive lod scores at this interval, demonstrating heterogeneity of the trait (peak hlod score 3.9, with 45% of families linked). Sanna-Cherchi et al. (2007) stated that the chromosome 1p33-p32 interval contains 52 transcription units, and at least 23 of these are expressed at embryonic day 12.5 in the murine ureteric bud and/or metanephric mesenchyme. Sanna-Cherchi et al. (2007) concluded that these data showed that autosomal dominant nonsyndromic renal hypodysplasia and associated urinary tract malformations are genetically heterogeneous and identified one locus for this common cause of human kidney failure.
Molecular Genetics
In 7 affected members of a Sardinian family (K100) with congenital anomalies of the kidney and urinary tract, originally reported by Sanna-Cherchi et al. (2007), Sanna-Cherchi et al. (2013) identified a heterozygous splice site mutation in the DSTYK gene (612666.0001). The mutation, which was found by linkage analysis and whole-exome sequencing, was confirmed by Sanger sequencing. The mutation was not present in 5 unaffected family members, but was present in 2 unaffected adults and in 4 family members with an unknown phenotype, suggesting incomplete penetrance. Sequencing of the DSTYK gene in 311 additional patients with CAKUT found 5 additional heterozygous mutations (see, e.g., 612666.0002-612666.0004) in 7 (2.3%) patients. None of these mutations were found in public databases or in 384 European controls. Functional studies of the mutations were not performed. DSTYK mutations predicted to be damaging were found in 14 (0.3%) of 4,300 white controls from the NHLBI Exome Variant Server. Sanna-Cherchi et al. (2013) concluded that carrying a heterozygous DSTYK mutation confers an odds ratio of 7.1 for CAKUT (p = 0.0003). DSTYK was shown to be highly expressed in the maturing epithelia of all major organs and was localized to cell membranes in the ureteric bud and metanephric mesenchyme of the developing kidney. DSTYK knockdown in HEK293T cells inhibited FGF (see 131220)-stimulated phosphorylation of ERK (600997), the principal signal downstream of receptor tyrosine kinases.
### Associations Pending Confirmation
For discussion of a possible association between CAKUT and variation in the FOXP1 gene, see 605515.
Pathogenesis
Kiprov et al. (1982) described hyperfiltration injury leading to focal segmental glomerulosclerosis in the normal kidney in unilateral renal agenesis. Hypertension and proteinuria have been observed as long-term consequences of uninephrectomy as in kidney donation (Hakim et al., 1984).
Animal Model
Sanna-Cherchi et al. (2013) demonstrated the morpholino knockdown of the Dstyk ortholog in zebrafish embryos resulted in growth retardation, small fins, abnormal morphogenesis of the tail, and loss of heartbeat. Mutant zebrafish also had cloacal malformations that corresponded to lower genitourinary defects in mammals and defects in jaw development, as well as specific loss of the median fin fold. Pericardial effusion was evident in 5-day-old morphant larvae, which was attributable to both heart and kidney failure. These data suggested an essential role of Dstyk in the development of major organs. The developmental defects resembled phenotypes produced by global loss of FGF signaling.
INHERITANCE \- Autosomal dominant GENITOURINARY Kidneys \- Congenital anomalies of the kidney and urinary tract (CAKUT) \- Renal hypodysplasia \- Solitary kidney \- Chronic renal failure Bladder \- Vesicoureteral reflux \- Ureteropelvic junction obstruction MISCELLANEOUS \- Onset at birth \- Diagnosis in early childhood \- Incomplete penetrance \- Variable abnormalities MOLECULAR BASIS \- Conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (DSTYK, 612666.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
|
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
|
c1835826
| 8,699 |
omim
|
https://www.omim.org/entry/610805
| 2019-09-22T16:04:08 |
{"mesh": ["C563661"], "omim": ["610805"], "synonyms": ["Alternative titles", "RENAL HYPODYSPLASIA, NONSYNDROMIC, 1"]}
|
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