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Abdominal wall defect SpecialtyMedical genetics Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.[1][unreliable medical source?] During the development of the fetus, many unexpected changes occur inside the womb. Specifically, the stomach, intestines, or other organs begin to develop outside the fetus’ abdomen through the abnormal hole in the abdomen and, as development progresses, the abdominal wall eventually encloses these organs. In some cases of defect either the umbilical opening is too oversized or has developed improperly which allows the organs to remain outside or to squeeze through the abdominal wall.[1] There are two main types of abdominal wall defects that result due to the changes during development. They are omphalocele and gastroschisis. Gastroschisis develops when the abdominal wall does not completely close, and the organs are present outside of the infant's body. Omphalocele occurs when some of the organs protrude through the muscles of the abdomen in the area surrounding the umbilical cord. Omphalocele can be either minor, with only some of the organs exposed, or severe, with most, if not all of the abdominal organs being exposed.[1] ## Contents * 1 Presentation * 1.1 Complications * 2 Cause * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 Incidence * 7 See also * 8 References * 9 External links ## Presentation[edit] ### Complications[edit] Concerns that arise due to abdominal wall defects can be threatening and require immediate and intensive medical care. Some infections may persist for long periods of time and lead to serious complications, such as feeding problems, which can cause the infant to require several surgeries. Since these complications can be severe, it is recommended that parents work closely with a team of physicians throughout the duration of the treatment. After the treatment is completed, children with abdominal wall defects may need additional help. Additional services are usually necessary for with omphalocele and the associated chromosomal abnormalities and birth defects that also arise. Treatments in these cases are long-term and focus on the physical and developmental difficulties that the children will endure. The parents may find this process difficult and need assistance in dealing with the process by a service that is provided by the healthcare team.[1] ## Cause[edit] Out of all of the causes of birth defects information about a great number is still unknown. As of 2004, the reason that abdominal wall defects occur has yet to be determined or understood. The symptoms that the mother may present that would indicate the development of the defect and unnoticeable .[1] Most cases of abdominal wall defects have been found to be sporadic and have no relationship with the history of the disorder within the family.[2] The EPA is aware that a common herbicide called Atrazine causes abdominal wall defects as well as other birth defects and cancer. Atrazine has been banned in the EU since 2004, yet is still commonly used in the US despite the evidence of harm. Atrazine affects the drinking water supply, most predominantly in the midwest.[citation needed] The Center for Disease Control and Prevention did a study on the relationship between Atrazine and abdominal wall defects:[3] "Gastroschisis and omphalocele are congenital abdominal wall defects (AWD). Atrazine and nitrates are common agricultural fertilizers" and concluded: "Indiana has significantly higher rates of AWD [abdominal wall defects] compared with national rates. Increased atrazine levels correlate with increased incidence of AWD." ## Diagnosis[edit] Before birth, openings in the abdomen can usually be detected by a detailed ultrasound or AFP screening. In addition to the ultrasound or AFP scanning, it is also necessary for children with this defect to be checked for other birth defects because genetic disorders are usually associated with some of the abdominal wall defects. In looking for other genetic disorders that may be associated, Genetic counseling and further genetic testing, such as amniocentesis, are offered.[1][4][5] ## Treatment[edit] Abdominal wall defects can be treated surgically if there are no accompanying anomalies. The surgical procedure also called omphalocele repair/closure or gastroschisis repair/closure is not overcomplicated. The organs are normal but are misplaced.[citation needed] However, if the abdominal cavity is too small or when the organs are too large or swollen to close the skin, it may be difficult to fit all the viscera into the small abdominal cavity. In such cases, the surgeon will place a covering pouch generally made of silastic, commonly called a silo (because it's shaped like an agricultural silo), over the abdominal organs on the outside of the infant.[6] The silo serves to conserve heat and prevent infection.[6] The silo is spring-loaded so that the device can be attached to the inside of the abdominal wall without sutures. The top of the silo is secured in a way that causes it to stand upright, so that the bowels are gradually coaxed into the abdominal cavity by gravity. This process can take up to a week, and final closure may be performed a few weeks later. More surgery may be required to repair the abdominal muscles at a later time.[citation needed] ## Prognosis[edit] If there are no other defects, the prognosis after surgical repair of this condition is relatively good. However, 10% of those with more severe or additional abnormalities die from it. The organs themselves are fully functional; the difficulty lies in fitting them inside the abdomen. The condition is, in fact, a hernia requiring only replacement and strengthening of the passageway through which it occurred. After surgery, increased pressure in the stretched abdomen can compromise the function of the organs inside.[citation needed] ## Incidence[edit] Abdominal wall defects, specifically the main two types, gastroschisis and omphalocele, are rare, occurring in about one out of every 5000 births.[1] There is no difference in prevalence between boys and girls. Mothers who are below the age of twenty are almost four times as likely to have an offspring that has developed an abdominal wall defect compared to mothers who is in her late twenties and older.[1] ## See also[edit] * Abdominal wall ## References[edit] 1. ^ a b c d e f g h "Abdominal Wall Defects". Encyclopedia of Children's Health. Retrieved November 28, 2012. 2. ^ "Abdominal Wall Defects". Genetics Home Reference. Retrieved November 28, 2012. 3. ^ Mattix, KD; Winchester, PD; Scherer, LR (June 2007). "Incidence of abdominal wall defects is related to surface water atrazine and nitrate levels". Journal of Pediatric Surgery. 42 (6): 947–9. doi:10.1016/j.jpedsurg.2007.01.027. PMID 17560200. 4. ^ Agarwal, R (2005). "Prenatal diagnosis of anterior abdominal wall defects: Pictorial essay". Indian J Radiol Imaging. 15 (3): 361–372. doi:10.4103/0971-3026.29157. 5. ^ Kamata, S; Ishikawa, S; Usui, N; Kitayama, Y; Sawai, T; Okuyama, H; Fukui, Y; Kubota, A; Imura, K; Okada, A (February 1996). "Prenatal diagnosis of abdominal wall defects and their prognosis". Journal of Pediatric Surgery. 31 (2): 267–71. doi:10.1016/s0022-3468(96)90012-3. PMID 8938356. 6. ^ a b Abdominal Wall Defects by Sajani Shah MD, at M&M Conference at SUNY Downstate Medical Center. Feb 24, 2006. ## External links[edit] Classification D * ICD-10: Q79 * ICD-9-CM: 756.7 * v * t * e Congenital diaphragm and abdominal wall defects, abdominopelvic cavity Thoracic diaphragm * Hernia * Congenital diaphragmatic hernia * Bochdalek hernia Abdominal wall * Omphalocele * Gastroschisis * Prune belly syndrome [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Abdominal wall defect	c0238577	26,100	wikipedia	https://en.wikipedia.org/wiki/Abdominal_wall_defect	2021-01-18T18:50:50	{"umls": ["C0238577"], "icd-9": ["756.7"], "icd-10": ["Q79"], "wikidata": ["Q2852251"]}
A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Germinoma of the central nervous system	c1333813	26,101	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91352	2021-01-23T18:41:59	{"umls": ["C1333813"]}
## Clinical Features Blue rubber bleb nevus is a bladderlike variety of hemangioma found particularly on the trunk and upper arms. Nocturnal pain and regional hyperhidrosis are features. Bleeding hemangiomas of the gastrointestinal tract are an important complication. Berlyne and Berlyne (1960) demonstrated transmission through 5 generations. Other cases have been sporadic, perhaps new dominant mutations. Bean (1958) gave the name to this condition which, furthermore, he was mainly instrumental in delineating. Rice and Fischer (1962) observed the association of cerebellar medulloblastoma. They illustrated the extraordinary appearance of the skin lesions. Intestinal hemangiomas were found at autopsy. Fretzin and Potter (1965) described a particularly dramatic case with involvement of the skin and gastrointestinal tract and angiomatous gigantism of the right arm requiring amputation in infancy. In a single case in a Japanese woman, Sakurane et al. (1967) described cavernous hemangiomas characteristic of blue rubber bleb nevi over the entire surface of the body and in the mucosa of the oropharynx, esophagus, distal ileum and anus. In addition the patient had multiple enchondromatosis. This, then, had many of the features of Maffucci syndrome (614569). Munkvad (1983) reported a family with 7 affected persons in 3 generations, including father-to-son transmission. The skin lesions are rubberlike nipples, easily compressible and promptly refilling after compression. They vary in color, size, shape and number and may be tender. The affected persons in Munkvad's pedigree had no evidence of visceral abnormality. Satya-Murti et al. (1986) described a 19-year-old man with extensive central nervous system involvement who had a chronic, slowly progressive, and nonfatal course. See 600195 for a familial venous malformation syndrome (VMCM) that may be the same as the blue rubber bleb nevus syndrome of Bean (1958) and is caused by mutation in the TEK gene (600221). Gallione et al. (1995) suggested that VMCM is identical to the Bean syndrome. Several members of the family they studied had gastrointestinal bleeding from vascular lesions as did the family originally described by Bean (1958). Ertem et al. (2001) described a 6-year-old boy with blue rubber bleb nevus syndrome who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. Endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations of various sizes. Inheritance Two families with affected persons in 3 and 5 successive generations, supporting autosomal dominant inheritance, were reported by Walshe et al. (1966). Nomenclature Although the lesions of blue rubber bleb nevus syndrome have often been termed 'angiomas' or 'hemangiomas' in the literature, histologically they are venous malformations. Mulliken and Young (1988) proposed a biologic classification system which divides vascular anomalies into hemangiomas, which are neoplastic lesions with endothelial hyperplasia, and vascular malformations, which are congenital lesions with normal epithelial turnover. INHERITANCE \- Autosomal dominant HEAD & NECK Mouth \- Oral mucosa venous malformations CARDIOVASCULAR Vascular \- Thrombi \- Phleboliths \- Low flow state RESPIRATORY Lung \- Pulmonary venous malformations ABDOMEN Liver \- Hepatic venous malformations Gastrointestinal \- Intestinal venous malformations \- Intussusception \- Volvulus \- Intestinal bleeding \- Rectal prolapse \- Polypoid filling defects seen on barium enema SKELETAL \- Coarsened trabeculae \- Cortical remodeling Limbs \- Limb hypertrophy \- Limb hypotrophy \- Pathologic fracture due to focal lytic defects \- Limb bowing SKIN, NAILS, & HAIR Skin \- Multiple, red-blue, soft, compressible vascular papules or macules (especially on trunk or upper arms) NEUROLOGIC Central Nervous System \- CNS venous malformations \- Cerebellar medulloblastoma (rare) \- Sinus pericranii (rare) HEMATOLOGY \- Iron deficiency anemia \- Thrombocytopenia \- Chronic consumption coagulopathy MISCELLANEOUS \- Usually sporadic, few cases described with autosomal dominant inheritance \- Presents at birth or early childhood \- Venous malformations previously referred to as angiomas or hemangiomas ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	BLUE RUBBER BLEB NEVUS	c0346072	26,102	omim	https://www.omim.org/entry/112200	2019-09-22T16:44:11	{"mesh": ["C536240"], "omim": ["112200"], "orphanet": ["1059"], "synonyms": ["Alternative titles", "BEAN SYNDROME"]}
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-1 (HSCR1) is associated with variation in the RET gene (164761) on chromosome 10q11. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. ### Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008). Clinical Features Boggs and Kidd (1958) described sibs with absence of the innervation of the entire intestinal tract below the ligament of Treitz. Bodian and Carter (1963) suggested that cases of Hirschsprung disease with extensive involvement of the gut, such as those reported by Boggs and Kidd (1958), are more likely to be familial. For the series of Hirschsprung disease as a whole, they could not demonstrate simple mendelian inheritance. Lipson and Harvey (1987) described nonsyndromic, biopsy-proven Hirschsprung disease involving both short and long segments of the large bowel in members of 3 successive generations, with a total of 4 definitely affected members and 2 probably affected members. The authors suggested that because of improved diagnosis and treatment over the last few decades, other such families may be described. Lipson et al. (1990) provided further information on the family: the affected mother of the propositus (a member of the third generation) had another child, fathered by a different man, with Hirschsprung disease affecting the entire large bowel. A history of long-segment Hirschsprung disease in a half cousin who had normal parents and grandparents suggested multifactorial inheritance with females, when affected, having a higher likelihood of transmitting the condition to their children. Staiano et al. (1999) evaluated the autonomic nervous system in patients with Hirschsprung disease. Pupillary and cardiovascular testing of sympathetic adrenergic and cholinergic function and cardiovagal cholinergic function was undertaken in 17 children (mean age, 8.6 years) with Hirschsprung disease and 19 age- and sex-matched control children (mean age, 9.9 years). Autonomic dysfunction was found in 7 of 17 patients with Hirschsprung disease. Evidence of sympathetic denervation was found in 3 of the 7 patients; 2 showed a parasympathetic dysfunction, and the remaining 2 had dysfunction of both sympathetic and parasympathetic tests. A RET mutation was found in one of the patients. ### Hirschsprung Disease as a Feature of Other Disorders Aganglionic megacolon is clearly a heterogeneous category. It is a frequent finding in cases of trisomy 21 (Down syndrome; 190685). See the review by Passarge (1993) who gave a listing of disorders in which congenital intestinal aganglionosis is a feature. Six of 63 probands in the Passarge (1967) study were cases of Down syndrome. Garver et al. (1985) confirmed the relatively high frequency of Hirschsprung disease in Down syndrome (5.9%). Of 134 cases, 103 had short-segment disease and 31 had the long-segment type of aganglionosis. For the 2 types, the sex ratio was 5.4 and 1.4, respectively. Quinn et al. (1994) cited a 10 to 15% incidence of HSCR in trisomy 21. Sakai et al. (1999) described a 1-year-old male patient with short-segment sporadic HSCR associated with Down syndrome. The patient carried mutations in both the RET gene (164761) and the EDNRB gene (131244). Other syndromes in which Hirschsprung disease occurs include cartilage-hair hypoplasia (250250), Smith-Lemli-Opitz syndrome (270400), and primary central hypoventilation syndrome (Ondine-Hirschsprung disease; 209880). Skinner and Irvine (1973) described 4 unrelated patients with Hirschsprung disease and profound congenital deafness. There were no stigmata of Waardenburg syndrome, which is sometimes accompanied by megacolon (see 193500). Megacolon has also been reported in familial piebaldness (172800). McKusick (1966) observed a child with heterochromia iridis and megacolon who also had congenital deafness. Liang et al. (1983) reported a Mexican family in which 2 brothers and a sister of second-cousin parents had Hirschsprung disease and bicolored irides. (They used the term 'bicolor' rather than the more usual 'heterochromia' to emphasize that 2 distinct colors were present in the same iris.) They suggested that the inheritance was autosomal recessive. This may have been been the Waardenburg-Shah syndrome, which is a recessive disorder (277580). Kim et al. (1994) reported a 15-year-old dysmorphic boy who was found to have Hirschsprung disease shortly after birth. He had pharyngeal webbing, short stature, microcephaly, ptosis, and dysmorphic features characterized by a flat occiput, receding forehead, low anterior hairline, bushy eyebrows, long eyelashes, anteverted ears, high nasal bridge, long nose, small mandible, and severe malocclusion. Developmental delay, speech abnormalities, ataxia, spasticity, and scoliosis developed later. A muscle biopsy performed when he was 15 years old demonstrated numerous minicores as well as a preponderance of type 1 fibers and fiber type disproportion. Chromosomes were normal. The patient's brother had mild developmental delay. Multicore myopathy (see 602771) in association with mental retardation and short stature has been reported with hypogonadism (253320), but the association with Hirschsprung disease was novel. A paternal cousin of the proband had Hirschsprung disease but no other abnormalities. Total colonic aganglionosis was described in association with congenital failure of autonomic control of ventilation (Ondine's curse; 209880) by O'Dell et al. (1987). Hirschsprung disease has been observed in association with MEN2A (171400; see Verdy et al., 1982) and MEN2B (162300; see Mahaffey et al., 1990). Inheritance Because they could not demonstrate simple mendelian inheritance in their series of Hirschsprung disease as a whole, Bodian and Carter (1963) concluded that Hirschsprung disease is probably multifactorial (polygenic) in its causation. Multifactorial traits have a 'sliding' risk. Not only does the recurrence risk increase as the number of affected sibs increases, but it also is greater when involvement is more severe. Thus it is not unexpected that cases with more extensive involvement are more likely to be familial. Passarge (1967) arrived at a similar conclusion of multifactorial inheritance. Empiric risk figures were as follows: 7.2% for the sibs of an affected female, 2.6% for the sibs of an affected male. In at least 4 instances, parent-child involvement is known (Ehrenpreis, 1970). In all 4 cases, the affected parent was the mother. Lipson et al. (1990) pointed to a male predominance of 3:1 to 5:1 in Hirschsprung disease. Badner et al. (1990) performed complex segregation analysis of data on 487 probands and their families. An increased sex ratio (3.9 males:1 female) and an elevated risk to sibs (4%), as compared with the population incidence (0.02%), were observed, with the sex ratio decreasing and the recurrence risk to sibs increasing as the aganglionosis became more extensive. For cases with aganglionosis beyond the sigmoid colon, the mode of inheritance was compatible with a dominant gene with incomplete penetrance, while for cases with aganglionosis extending no farther than the sigmoid colon, the inheritance pattern was equally likely to be either multifactorial or due to a recessive gene with very low penetrance. Auricchio et al. (1996) raised the intriguing hypothesis that CIIPX (300048) may represent an additional, X-linked susceptibility locus in Hirschsprung disease. Hofstra et al. (1997) pointed out that mutations of the RET, GDNF (600837), EDNRB (131244), and EDN3 (131242) genes appear to give dominant, recessive, or polygenic patterns of inheritance. They concluded that Hirschsprung disease, with major and modifying sequence variants in a variety of genes, may serve as a model for other complex disorders for which the search for defective genes has begun. Pathogenesis Lipson (1988) raised the question of hyperthermia in early gestation as a factor in Hirschsprung disease. Larsson et al. (1989) could not confirm a correlation between hyperthermia during pregnancy and Hirschsprung disease in the offspring. Carrasquillo et al. (2002) used a genomewide association study and a mouse model to identify interaction between the RET and EDNRB pathways in the pathogenesis of Hirschsprung disease. Torroglosa et al. (2014) compared the expression patterns of genes involved in human stem cell pluripotency between enteric precursors from controls and patients with Hirschsprung disease. The authors further evaluated the role of DNMT3B (602900) in the context of Hirschsprung disease by immunocytochemistry, global DNA methylation assays, and mutational screening. Seven differentially expressed genes were identified, and 3 missense mutations were found in DNMT3B that could potentially be pathogenic. These mutations were present in conjunction with RET mutations in patients with long-segment Hirschsprung disease. Torroglosa et al. (2014) found that Hirschsprung disease neural precursors derived from neurosphere-like bodies (NLBs) had reduced levels of DNMT3B mRNA and protein compared to control cells. Additionally, methylation levels in Hirschsprung disease NLBs were lower than those of control NLBs. Mapping Taking advantage of a proximal deletion of chromosome 10q, del10(q11.21q21.2), in a patient with total colonic aganglionosis (Martucciello et al., 1992) and making use of a high-density genetic map of microsatellite DNA markers, Lyonnet et al. (1993) performed genetic linkage analysis in 15 nonsyndromic long-segment and short-segment Hirschsprung disease families. Multipoint linkage analysis indicated a likely location for a HSCR locus between D10S208 and D10S196, suggesting that a dominant gene for this disorder maps to 10q11.2, a region to which other neural crest defects have been mapped. Fewtrell et al. (1994) also found total colonic aganglionosis in association with a 10q deletion: del(10)(q11.2q21.2). By the molecular characterization of the previously reported familial microdeletion and of 3 additional cytogenetically visible de novo deletions, isolated in somatic cell hybrids, Luo et al. (1993) identified a smallest region of overlap of 250 kb. This region contained the RET (164761) gene. Adult HSCR patients with deletions of the RET gene were negative by the pentagastrin test, which detects preclinical forms of MEN2A (171400) or MEN2B (162300). Because of the striking phenotypic diversity displayed by alleles at the same locus, such as spinal bulbar muscular atrophy and testicular feminization, due to different mutations in the androgen receptor gene (313700), Luo et al. (1993) considered it plausible that the RET gene is the site of the mutation causing Hirschsprung disease. In 5 HSCR families, Angrist et al. (1993) identified linkage to the pericentromeric region of chromosome 10. A maximum 2-point lod score of 3.37 at theta = 0.045 was observed between HSCR and D10S176, under an incompletely penetrant dominant model. Multipoint, affecteds-only and nonparametric analyses supported this finding and localized the gene to a region of approximately 7 cM, in close proximity to the locus for MEN2. Molecular Genetics ### Susceptibility to Hirschsprung Disease Edery et al. (1994) presented strong evidence that both the short-segment (accounting for 80% of cases of Hirschsprung disease) and long-segment (accounting for 20% of cases) forms of aganglionic megacolon are fundamentally the same disorder due to mutations in the RET gene. Genetic linkage analysis using microsatellite DNA markers of 10q in 11 long-segment families and 8 short-segment families showed tight linkage with no recombination between the disease locus and the RET locus. Thus, the 2 anatomical forms of familial Hirschsprung disease, which have been separated on the basis of clinical criteria, have no fundamental reason to be separated but must be regarded as the variable clinical expression of mutations at the RET locus. Such point mutations had specifically been identified in 6 HSCR families linked to 10q11.2. These mutations resulted in either amino acid substitutions or protein termination. Long-segment and short-segment HSCR occurred in the same family and lack of penetrance was observed. The arg180-to-ter nonsense mutation (164761.0021) was observed in 2 patients with long-segment HSCR and in their unaffected mother in family 3. The pro64-to-leu mutation (164761.0019) was observed in a proband with short-segment HSCR and in 2 persons with severe constipation in family 15. The arg330-to-gln mutation (164761.0022) was found in 1 patient with short-segment HSCR, 1 patient with long-segment HSCR, and in 3 unaffected subjects in family 2. Finally, the ser32-to-leu mutation (164761.0018) was found in a patient with long-segment HSCR, in 2 patients with short-segment HSCR, in a subject with severe constipation, and in an unaffected subject in family 5. Chakravarti (1996) estimated that RET mutations account for approximately 50% of HSCR cases and EDNRB mutations account for approximately 5%. Short-segment HSCR occurs in about 25% of RET-caused cases and in more than 95% of EDNRB-related cases. Whereas homozygosity for mutations of the EDNRB gene causes deafness and pigmentary anomalies in addition to HSCR (e.g., 131244.0002), the homozygous phenotype for RET had not been observed. Chakravarti (1996) provided a figure showing the distribution of RET mutations causing HSCR; they numbered about 48 and were widely distributed through the gene. Iwashita et al. (1996) introduced 5 HSCR mutations into the extracellular domain of human RET cDNA. These mutations were introduced with or without a MEN2A mutation (cys634arg; 164761.0011). The investigators demonstrated that with the 5 HSCR extracellular domain RET mutations cell surface expression of the protein was low. Iwashita et al. (1996) concluded that sufficient levels of RET expression on the cell surface are required for migration of ganglia toward the distal portion of the colon or for full differentiation. Borrego et al. (1999) studied polymorphic sequence variation in RET in 64 prospectively ascertained individuals with HSCR from the Andalusia region of Spain. For 2 polymorphic variants the rare allele was overrepresented in HSCR cases as compared to controls, while the rare allele for 2 other variants was underrepresented in HSCR cases. Borrego et al. (1999) concluded that RET polymorphisms predispose to HSCR in a complex low-penetrance manner and may modify phenotypic expression. Sakai et al. (1999) described a 1-year-old male patient with short-segment sporadic HSCR associated with Down syndrome. Two mutations were found: a de novo T-to-A heterozygous transition at the splicing donor site of intron 10 of the RET gene (164761), and a G-to-A substitution in exon 1 in the noncoding region of the EDNRB gene (131244), inherited from the mother. They stated that no patient had been described to that time with point mutations in different loci known to lead to HSCR. Sijmons et al. (1998) investigated the possibility that some patients with Hirschsprung disease and germline mutations in the RET gene may be exposed to an increased risk of tumor formation. Among 60 patients with Hirschsprung disease, the authors found 3 with MEN2A-type RET mutations, 2 with cys620 to arg (164761.0009) and 1 with cys609 to tyr (164761.0029). Two of these patients were children in whom no evidence of MEN2A-related pathology was found. One of these children had inherited her mutation from her mother, who presented with medullary thyroid carcinoma and pheochromocytoma at the age of 28. This child underwent prophylactic thyroidectomy. The adult patient was a 34-year-old woman who had undergone surgery for short-segment Hirschsprung disease at the age of 8 weeks and in whom pentagastrin stimulation had produced grossly abnormal calcitonin levels, raising the possibility of thyroid C-cell pathology. The authors concluded that these cases, together with a small number of others reported in the literature, suggest that screening for RET mutations in patients with familial or sporadic Hirschsprung disease is not recommended outside a complete clinical research setting. They added that if a MEN2A-type RET mutation is found in such a patient, screening for MEN2 tumors should be offered. Borrego et al. (2000) reported that isolated cases of Hirschsprung disease are more likely to have genotypes containing the allelic variant ala45 to ala (A45A; 164761.0038) than do controls or unaffected parents. Gabriel et al. (2002) stated that RET (164761) appears to be the major gene involved in HSCR because (i) only 1 affected family unlinked to RET had been reported (Bolk et al., 2000); (ii) coding sequence mutations occur in RET in 50% of familial and 15 to 35% of sporadic cases (Attie et al., 1995); (iii) even when the major mutation is in EDNRB (131244), RET variants make some contribution to susceptibility (Puffenberger et al., 1994); and (iv) homozygous RET-null mice have full sex-independent penetrance of aganglionosis (Schuchardt et al., 1994). RET mutations may not be sufficient to lead to aganglionosis, as the penetrance of mutant alleles is 65% in males and 45% in females. As indicated, mutations in RET (164761), GDNF (600837), EDNRB, EDN3 (131242), and SOX10 (602229) lead to long-segment Hirschsprung disease (L-HSCR) and syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). Gabriel et al. (2002) conducted a genome scan in families with S-HSCR and identified susceptibility loci at 3p21 (HSCR6; 606874), 10q11, and 19q12 (HSCR7; 606875) that seemed to be necessary and sufficient to explain recurrence risk and population incidence. The gene at 10q11 was thought to be RET, supporting its crucial role in all forms of HSCR; however, coding sequence mutations in RET were present in only 40% of families linked to 10q11, suggesting the importance of noncoding variation. Gabriel et al. (2002) showed oligogenic inheritance of S-HSCR with 3p21 and 19q12 loci functioning as RET-dependent modifiers. They also demonstrated a parent-of-origin effect at the RET locus. Of the 49 families they studied, 27 shared 1 allele identical by descent (IBD) at the RET locus; although the shared allele was expected to be equally transmitted by either parent, they observed, instead, 21 maternal and 6 paternal transmissions. This effect was not gender-specific but a true parent-of-origin effect, as, within the 27 nuclear families with 1 allele IBD, there were 29 affected males and 25 affected females. No similar parent-of-origin effect was observed at the 3p21 and 19q12 loci. Carrasquillo et al. (2002) noted that although 8 genes with mutations that could be associated with Hirschsprung disease had been identified, mutations at individual loci are neither necessary nor sufficient to cause clinical disease. They conducted a genomewide association study in 43 Mennonite family trios (parents and affected child) using 2,083 microsatellites and SNPs and a new multipoint linkage disequilibrium method that searched for association arising from common ancestry. They identified susceptibility loci at 10q11, 13q22, and 16q23 (HSCR8; 608462); they showed that the gene at 13q22 is EDNRB and the gene at 10q11 is RET. Statistically significant joint transmission of RET and EDNRB alleles in affected individuals and noncomplementation of aganglionosis in mouse intercrosses between Ret-null and the Ednrb hypomorphic piebald allele were suggestive of epistasis between EDNRB and RET. Thus, genetic interaction between mutations in RET and EDNRB is an underlying mechanism for this complex disorder. Passarge (2002) reviewed the genes implicated in Hirschsprung disease. Burzynski et al. (2004) typed 13 markers within and flanking the RET gene in 117 Dutch patients with sporadic HSCR, 64 of whom had been screened for RET mutations and found negative, and their parents. There was a strong association between 6 markers in the 5-prime region of RET and HSCR, with significant transmission distortion of those markers. Homozygotes for this 6-marker haplotype had a highly increased risk of developing HSCR (OR greater than 20). Burzynski et al. (2004) concluded that RET may play a crucial role in HSCR even when no RET mutations are found, and that disease-associated variants are likely to be located between the promoter region and exon 2 of the RET gene. Emison et al. (2005) used family-based association studies to identify a disease interval, and integrated this with comparative and functional genomic analysis to prioritize conserved and functional elements within which mutations in RET can be sought. Emison et al. (2005) showed that a common noncoding RET variant within a conserved enhancer-like sequence in intron 1 (164761.0050) is significantly associated with HSCR susceptibility and makes a 20-fold greater contribution to risk than rare alleles do. This mutation reduces in vitro enhancer activity markedly, has low penetrance, and has different genetic effects in males and females, and explains several features of the complex inheritance pattern of HSCR. Thus, Emison et al. (2005) concluded that common low-penetrance variants identified by association studies can underlie both common and rare diseases. Emison et al. (2005) concluded that RET mutations, coding and/or noncoding, are probably a necessary feature in all cases of HSCR. However, RET mutations are not sufficient for HSCR because disease incidence also requires mutations at additional loci. Amiel et al. (2008) reviewed the genetics of Hirschsprung disease and associated syndromes and stated that isolated HSCR appears to be a nonmendelian malformation with low, sex-dependent penetrance and variable expression that can serve as a model for genetic disorders with complex patterns of inheritance. Tilghman et al. (2019) genotyped and exome sequenced samples from 190 patients with Hirschsprung disease to quantify the genetic burden in patients with this condition. The presence of 5 or more variants in 4 noncoding elements defined a widespread risk of Hirschsprung disease (48.4% of patients and 17.1% of controls; odds ratio (OR) = 4.54, 95% confidence interval (CI) 3.19 to 6.46). Rare coding variants in 24 genes that play roles in enteric neural crest cell fate, 7 of which were novel, were also common (34.7% of patients and 5.0% of controls) and conferred a much greater risk than noncoding variants (OR = 10.02, 95% CI 6.45 to 15.58). Large copy number variants, which were present in fewer patients (11.4%, as compared with 0.2% of controls), conferred the highest risk (OR = 63.07, 95% CI 36.75 to 108.25). At least 1 identifiable genetic risk factor was found in 72.1% of the patients, and at least 48.4% of patients had a structural or regulatory deficiency in the RET gene. For individual patients, the estimated risk of Hirschsprung disease ranged from 5.33 cases per 100,000 live births (approximately 1 per 18,800) to 8.38 per 1,000 live births (approximately 1 per 120). Tilghman et al. (2019) concluded that among the patients in their study, Hirschsprung disease arose from common noncoding variants, rare coding variants, and copy number variants affecting genes involved in enteric neural crest cell fate that exacerbate the widespread genetic susceptibility associated with RET. For individual patients, the genotype-specific odds ratios varied by a factor of approximately 67, which provided a basis for risk stratification and genetic counseling. ### Protection Against Hirschsprung Disease Griseri et al. (2000) analyzed a 2508C-T SNP in exon 14 of the RET gene, finding that the T variant was less frequent in patients with HSCR than in the normal population. They demonstrated that the anomalous allelic distribution was due to nonrandom segregation of the T and C alleles in Italian families with HSCR. Griseri et al. (2002) undertook a study to determine whether the observed segregation distortion was due to an increased risk of developing HSCR conferred by the C allele or to a protective effect of the T allele. The typing of several different markers across the RET gene demonstrated that a whole conserved haplotype displayed anomalous distribution and nonrandom segregation in families with HSCR. They provided genetic evidence concerning a protective role of this low-penetrant haplotype in the pathogenesis of HSCR and demonstrated a possible functional effect linked to RET mRNA expression, namely a decrease in the total amount of RET, with enrichment of the RET51 isoform. Griseri et al. (2007) identified a 128496T-C polymorphism (rs3026785; 164761.0052) in the 3-prime untranslated region of the RET gene that was responsible for the protective effect of the haplotype identified by Griseri et al. (2000, 2002). The SNP slows down the physiologic decay of RET mRNA. Genotype/Phenotype Correlations Kashuk et al. (2005) reported the alignment of the human RET protein sequence with the orthologous sequences of 12 nonhuman vertebrates, their comparative analysis, the evolutionary topology of the RET protein, and predicted tolerance for all published missense mutations. Other Features Using gene expression profiling, Iwashita et al. (2003) determined that genes associated with Hirschsprung disease were highly upregulated in rat gut neural crest stem cells relative to whole-fetus RNA. Among the genes with highest expression were GDNF (600837), SOX10 (602229), GFRA1 (601496), and EDNRB (131244). The highest expression was seen in RET, which was found to be necessary for neural crest stem cell migration in the gut. GDNF promoted the migration of neural crest stem cells in culture but did not affect their survival or proliferation. The observations made by Iwashita et al. (2003) were confirmed by quantitative RT-PCR, flow cytometry, and functional analysis. Animal Model Hultgren (1982) described ileocolonic aganglionosis in the horse. The lethal white foal syndrome is a congenital abnormality of overo spotted horses which appears to be a model for human aganglionic megacolon. Affected foals are all white or nearly all white and succumb to intestinal obstruction in the first few days of life. (The designation 'overo' comes from the Spanish for 'egg-colored' or 'speckled.') McCabe et al. (1990) described 2 affected foals and discussed 2 possible mechanisms of inheritance. In mice, aganglionic megacolon is associated with piebald trait and is inherited apparently as an autosomal recessive (Bielschowsky and Schofield, 1962). The disorder in both the horse and the mouse is caused by mutation in Ednrb (131244). Another possible cause of, or contributing factor to, megacolon in humans was suggested by the results of 'knockout' experiments in mice by Hatano et al. (1997) involving a Hox11 gene: Ncx/Hox11L.1. This gene was inactivated in embryonic stem cells by homologous recombination. The homozygous mutant mice were viable and had no morphologic abnormalities at birth, but developed megacolon with enteric ganglia by age 3 to 5 weeks. Histochemical analysis of the ganglia revealed that the enteric neurons 'hyperinnervated' in the narrow segment of megacolon. Some of these neuronal cells degenerated and neuronal cell death occurred in later stages. Hatano et al. (1997) proposed that Ncx/Hox11L.1 is required for maintenance of proper functions of the enteric nervous system. They pointed out that neuronal intestinal dysplasia is a human congenital disorder that is characterized by megacolon with a normal number of ganglia or hyperplasia of enteric neurons (MacMahon et al., 1981; Munakata et al., 1985). History Passarge (1993) stated that Harald Hirschsprung (1830-1916) was a Danish physician in Copenhagen and that his family lent its name to the Hirschsprung Art Gallery of Copenhagen. The Danish pediatrician Harald Hirschsprung (1888) first described 2 unrelated boys who died from chronic severe constipation with abdominal distention resulting from congenital megacolon. The absence of intramural ganglion cells of the myenteric and submucosal plexuses (the Auerbach and Meissner plexuses, respectively) downstream of the dilated part of the colon was recognized as the cause of the disorder in the 1940s (Whitehouse and Kernohan, 1948). For a long time this disorder was considered to be multifactorial in its inheritance with the possible operation of a major autosomal recessive gene. Indeed, this disorder appeared in the autosomal recessive catalog of Mendelian Inheritance in Man and OMIM (without an asterisk) through many editions. As an increasing number of surviving patients reached child-bearing age, families consistent with autosomal dominant inheritance were reported by Carter et al. (1981), Lipson and Harvey (1987), and Lipson et al. (1990). INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Failure to pass meconium in first 48 hours of life \- Constipation \- Abdominal distention \- Vomiting \- Enterocolitis \- Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel LABORATORY ABNORMALITIES \- Absent enteric ganglia beginning at the rectum and extends proximally by varying degrees \- Acetylcholinesterase staining reveals nerve trunk hypertrophy MISCELLANEOUS \- Male predominance of 3:1 to 5:1 \- Familial (10%) and isolated cases MOLECULAR BASIS \- Caused by mutation in the RET protooncogene (RET, 164761.0014 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	c0019569	26,103	omim	https://www.omim.org/entry/142623	2019-09-22T16:40:14	{"mesh": ["D006627"], "omim": ["142623"], "orphanet": ["388"], "synonyms": ["Alternative titles", "HIRSCHSPRUNG DISEASE", "AGANGLIONIC MEGACOLON", "MEGACOLON, AGANGLIONIC"], "genereviews": ["NBK1439"]}
Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincially with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Mixed autoinflammatory and autoimmune syndrome	None	26,104	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324933	2021-01-23T17:16:54	{}
A number sign (#) is used with this entry because of evidence that immunodeficiency-38 (IMD38) is caused by homozygous mutation in the ISG15 gene (147571) on chromosome 1p36. Description IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015). Clinical Features Bogunovic et al. (2012) reported 2 unrelated patients with IMD38 presenting as unexplained susceptibility to mycobacterial disease, a 15-year-old girl from Turkey (P1) and a 12-year-old boy from Iran (P2), both born to consanguineous parents. The first patient presented at 2 months of age after development of bilateral axillary lymphadenopathy shortly after BCG vaccination. She also developed skin lesions on the scapular area, which drained, leaving large scars. Lymph node involvement in the inguinal area and fistulas in the vulvar area were subsequently observed. The patient required antimycobacterial treatment for 1.5 years and subsequently did well. She had chicken pox and mumps with no complications, and never had severe influenza infection. The second patient developed bilateral fistulizing inguinal lymphadenopathy and diffuse necrotic ulcers in the buttocks after BCG vaccination. These progressed to involve other parts of the body. He had 1 episode of pulmonary infiltrate in the left lower lobe that resolved after treatment. The patient had required 3 courses of anti-tuberculosis medication with 3 agents. His response to treatment was very slow and continued for 4.5 years, resulting in the complete healing of the ulcers and fistulizing lymphadenopathies. His brother (P3) developed left axillary lymphadenitis close to the site of BCG vaccination, which fistulized without treatment. Zhang et al. (2015) investigated 3 sibs from China with idiopathic basal ganglia calcification (IBGC). The oldest child (P4) died during an episode of epileptic seizures at the age of 13 years; the other 2 sibs, aged 11 and 13 years at the time of study, suffered only occasional seizures. These children had not received BCG vaccination at birth and so had shown no evidence of mendelian susceptibility to mycobacterial disease (MSMD). Despite having been exposed to common childhood viruses, these children had experienced no severe infectious disease. Upon identification of a homozygous nonsense mutation in the ISG15 gene in the 2 surviving sibs (Q55X; 147571.0003), Zhang et al. (2015) performed CT imaging of the Turkish and Iranian children with ISG15 deficiency reported by Bogunovic et al. (2012) and found that 2 had IBGC and 1 had calcification along the cerebral falx. Zhang et al. (2015) found that the ISG15-deficient children reported by them and by Bogunovic et al. (2012) displayed abnormally strong IFNA (147660)/IFNB (147640) immunity, as demonstrated by high levels of circulating IFNA and/or leukocyte interferon-stimulated genes. Molecular Genetics In 2 individuals with IMD38, Bogunovic et al. (2012) identified homozygous mutations in the ISG15 gene. A 15-year-old girl from Turkey carried a nonsense mutation (147571.0001), and a 12-year-old boy from Iran and his brother carried a frameshift mutation (147571.0002). Using whole-exome sequencing in 2 sibs from a Chinese family with IBGC, Zhang et al. (2015) identified a homozygous nonsense mutation in the ISG15 gene (Q55X; 147571.0003) that had not been reported in public databases or in in-house whole-exome sequencing data for 1,500 other individuals. These patients were not vaccinated with BCG at birth, consistent with their lack of an MSMD phenotype. Familial segregation was consistent with an autosomal recessive mode of inheritance. INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Herpetic lesions (in 1 patient) SKIN, NAILS, & HAIR Skin \- Necrotic skin ulcers (in 1 patient) NEUROLOGIC Central Nervous System \- Basal ganglia calcifications \- Calcification along the cerebral falx \- Seizures (in one patient) \- Normal psychomotor development IMMUNOLOGY \- Susceptibility to mycobacterial disease \- Lymphadenopathy subsequent to BCG vaccination \- Lymphadenitis subsequent to BCG vaccination (in 1 patient) \- No severe viral infections MISCELLANEOUS \- Based on report of 2 Iranian siblings, 1 Turkish patient, and 1 Chinese family (last curated October 2017) MOLECULAR BASIS \- Caused by mutation in the ISG15 ubiquitin-like modifier gene (ISG15, 147571.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION	c4015293	26,105	omim	https://www.omim.org/entry/616126	2019-09-22T15:49:52	{"omim": ["616126"], "orphanet": ["319563"], "synonyms": ["IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Alternative titles", "MSMD due to complete ISG15 deficiency", "ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE"]}
A number sign (#) is used with this entry because cataract 11 (CTRCT11) is caused by heterozygous mutation in the PITX3 gene (602669) on chromosome 10q24. There is also evidence that cataract 11 with microphthalmia and neurodevelopmental abnormalities is caused by homozygous mutation in the PITX3 gene. Description Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar. The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.' Clinical Features Berry et al. (2004) examined affected members of a 4-generation English family with autosomal dominant posterior polar cataract. The opacity, which was bilateral in all cases, consisted of a single well-defined plaque that was confined to the posterior pole of the lens. Hospital records indicated that usually the opacity was present at birth or developed within the first few months of life and progressed, with age, to other regions of the lens. One member of the family had severe anterior segment mesenchymal dysgenesis (see 107250) in addition to posterior polar cataract; all other affected members had only posterior polar cataract and no other ocular or systemic abnormalities. Berry et al. (2004) investigated another 4-generation family of English descent with posterior polar cataract in which 4 of 11 affected members also had ASMD but no other clinical abnormalities. The authors also studied 3 large families of English, Chinese, and Hispanic descent in which all affected individuals had progressive posterior polar cataract and no other abnormalities. Bidinost et al. (2006) reported a 3-generation Lebanese family in which 26 members had posterior polar cataract. Two affected brothers from a consanguineous mating in this family had a more severe phenotype. In addition to posterior polar cataract, they had severe bilateral microphthalmia, blindness, and a neurologic disorder characterized by mental retardation, choreiform movements, and increased muscle tone and decreased deep tendon reflexes of the lower extremities. Imaging studies in these brothers revealed no gross abnormalities of brain development. Mapping Berry et al. (2004) performed linkage analysis in a 4-generation English family with autosomal dominant posterior polar cataract and obtained a 2-point lod score of 3.91 (theta = 0) at marker D10S192, flanked by D10S1686 and D10S1693 and encompassing the PITX3 locus. They also demonstrated linkage of posterior polar cataract to chromosome 10q25 in another 4-generation English family and in 3 large families of English, Chinese, and Hispanic descent. Molecular Genetics Semina et al. (1998) screened a collection of 80 DNA samples from individuals with various eye anomalies for mutations in the PITX3 gene. In a mother and son with congenital total cataract, they identified a heterozygous missense mutation (S13N; 602669.0002), and in an unrelated patient with anterior segment mesenchymal dysgenesis (ASGD1; 107250) and cataracts, they identified a heterozygous 17-bp insertion (602669.0001). In affected members of 4 large unrelated families with autosomal dominant posterior polar cataract, 3 of English descent and 1 of Chinese descent, Berry et al. (2004) identified heterozygosity for a 17-bp duplication in the PITX3 gene (602669.0001). In affected members of a 4-generation family of Hispanic descent with posterior polar cataract, Berry et al. (2004) identified heterozygosity for a 1-bp deletion in the PITX3 gene (650delG; 602669.0003). Bidinost et al. (2006) identified heterozygosity for the 650delG mutation in the PITX3 gene in 26 members with posterior polar cataract in a 3-generation Lebanese family. Two affected brothers from a consanguineous mating in this family were homozygous for the deletion and had a more severe phenotype. In addition to posterior polar cataract, they had severe bilateral microphthalmia, blindness, and a neurologic disorder characterized by mental retardation, choreiform movements, and increased muscle tone and decreased deep tendon reflexes of the lower extremities. INHERITANCE \- Autosomal dominant \- Autosomal recessive (in 2 patients) HEAD & NECK Eyes \- Cataract, posterior polar, congenital progressive \- Anterior segment mesenchymal dysgenesis (in some patients) \- Microphthalmia (in homozygous patients) \- Blindness (in homozygous patients) NEUROLOGIC Central Nervous System \- Mental retardation (in homozygous patients) \- Choreiform movements (in homozygous patients) \- Increased muscle tone (in homozygous patients) \- Decreased deep tendon reflexes (in homozygous patients) MISCELLANEOUS \- Two individuals in a large Lebanese CTRCT11 family were homozygous for the PITX3 mutation and had severe ocular disease and neurologic features MOLECULAR BASIS \- Caused by mutation in the paired-like homeodomain transcription factor-3 gene (PITX3, 602669.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	CATARACT 11, MULTIPLE TYPES	c1864567	26,106	omim	https://www.omim.org/entry/610623	2019-09-22T16:04:25	{"doid": ["0110249"], "mesh": ["C535344"], "omim": ["610623"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": ["Alternative titles", "CATARACT, POSTERIOR POLAR, 4", "CPP4"]}
Acute kidney injury Other namesAcute renal failure (ARF) Pathologic kidney specimen showing marked pallor of the cortex, contrasting to the darker areas of surviving medullary tissue. The patient died with acute kidney injury. SpecialtyNephrology, Urology Acute kidney injury (AKI), previously called acute renal failure (ARF),[1][2] is an abrupt loss of kidney function that develops within 7 days.[3] Its causes are numerous. Generally it occurs because of damage to the kidney tissue caused by decreased kidney blood flow (kidney ischemia) from any cause (e.g., low blood pressure), exposure to substances harmful to the kidney, an inflammatory process in the kidney, or an obstruction of the urinary tract that impedes the flow of urine. AKI is diagnosed on the basis of characteristic laboratory findings, such as elevated blood urea nitrogen and creatinine, or inability of the kidneys to produce sufficient amounts of urine. AKI may lead to a number of complications, including metabolic acidosis, high potassium levels, uremia, changes in body fluid balance, and effects on other organ systems, including death. People who have experienced AKI may have an increased risk of chronic kidney disease in the future. Management includes treatment of the underlying cause and supportive care, such as renal replacement therapy. ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Classification * 2.2 Prerenal * 2.3 Intrinsic or renal * 2.4 Postrenal * 3 Diagnosis * 3.1 Definition * 3.2 Staging * 3.3 Evaluation * 4 Treatment * 4.1 Prerenal * 4.2 Intrinsic * 4.3 Postrenal * 4.4 Renal replacement therapy * 4.5 Complications * 4.6 Early recovery of AKI * 5 Prognosis * 5.1 Mortality * 5.2 Kidney function * 6 Epidemiology * 7 History * 8 See also * 9 References * 10 External links ## Signs and symptoms[edit] The clinical picture is often dominated by the underlying cause. The various symptoms of acute kidney injury result from the various disturbances of kidney function that are associated with the disease. Accumulation of urea and other nitrogen-containing substances in the bloodstream lead to a number of symptoms, such as fatigue, loss of appetite, headache, nausea and vomiting.[4] Marked increases in the potassium level can lead to abnormal heart rhythms, which can be severe and life-threatening.[5] Fluid balance is frequently affected, though blood pressure can be high, low or normal.[6] Pain in the flanks may be encountered in some conditions (such as clotting of the kidneys' blood vessels or inflammation of the kidney); this is the result of stretching of the fibrous tissue capsule surrounding the kidney.[7] If the kidney injury is the result of dehydration, there may be thirst as well as evidence of fluid depletion on physical examination.[7] Physical examination may also provide other clues as to the underlying cause of the kidney problem, such as a rash in interstitial nephritis (or vasculitis) and a palpable bladder in obstructive nephropathy.[7] ## Causes[edit] ### Classification[edit] Acute kidney injury is diagnosed on the basis of clinical history and laboratory data. A diagnosis is made when there is a rapid reduction in kidney function, as measured by serum creatinine, or based on a rapid reduction in urine output, termed oliguria (less than 400 mLs of urine per 24 hours). Classic laboratory findings in AKI Type UOsm UNa FeNa BUN/Cr Prerenal >500 <10 <1% >20[8] Intrinsic <350 >20 >2% <10-15[8] Postrenal <350 >40 >4% >20[8] AKI can be caused by systemic disease (such as a manifestation of an autoimmune disease, e.g. lupus nephritis), crush injury, contrast agents, some antibiotics, and more. AKI often occurs due to multiple processes. The most common cause is dehydration and sepsis combined with nephrotoxic drugs, especially following surgery or contrast agents. The causes of acute kidney injury are commonly categorized into prerenal, intrinsic, and postrenal. Acute kidney injury occurs in up to 30% of patients following cardiac surgery.[9] Mortality increases by 60-80% in post-cardiopulmonary bypass patients who go on to require renal replacement therapy. Preoperative creatinine greater than 1.2 mg/dL, combined valve and bypass procedures, emergency surgery, and preoperative intraaortic balloon pump are risk factors most strongly correlated with post-cardiopulmonary bypass acute kidney injury. Other well-known minor risk factors include: female gender, congestive heart failure, chronic obstructive pulmonary disease, insulin-requiring diabetes, and depressed left ventricular ejection fraction.[9] ### Prerenal[edit] Prerenal causes of AKI ("pre-renal azotemia") are those that decrease effective blood flow to the kidney and cause a decrease in the glomerular filtration rate (GFR). Both kidneys need to be affected as one kidney is still more than adequate for normal kidney function. Notable causes of prerenal AKI include low blood volume (e.g., dehydration), low blood pressure, heart failure (leading to cardiorenal syndrome), hepatorenal syndrome in the context of liver cirrhosis, and local changes to the blood vessels supplying the kidney. The latter include renal artery stenosis, or the narrowing of the renal artery which supplies the kidney with blood, and renal vein thrombosis, which is the formation of a blood clot in the renal vein that drains blood from the kidney. ### Intrinsic or renal[edit] Intrinsic AKI refers to disease processes which directly damage the kidney itself. Intrinsic AKI can be due to one or more of the kidney's structures including the glomeruli, kidney tubules, or the interstitium. Common causes of each are glomerulonephritis, acute tubular necrosis (ATN), and acute interstitial nephritis (AIN), respectively. Other causes of intrinsic AKI are rhabdomyolysis and tumor lysis syndrome.[10] Certain medication classes such as calcineurin inhibitors (e.g., tacrolimus) can also directly damage the tubular cells of the kidney and result in a form of intrinsic AKI. ### Postrenal[edit] Postrenal AKI refers to acute kidney injury caused by disease states downstream of the kidney and most often occurs as a consequence of urinary tract obstruction. This may be related to benign prostatic hyperplasia, kidney stones, obstructed urinary catheter, bladder stones, or cancer of the bladder, ureters, or prostate. ## Diagnosis[edit] ### Definition[edit] Introduced by the KDIGO in 2012,[11] specific criteria exist for the diagnosis of AKI. AKI can be diagnosed if any one of the following is present: * Increase in SCr by ≥0.3 mg/dl (≥26.5 μmol/l) within 48 hours; or * Increase in SCr to ≥1.5 times baseline, which has occurred within the prior 7 days; or * Urine volume < 0.5 ml/kg/h for 6 hours. ### Staging[edit] The RIFLE criteria, proposed by the Acute Dialysis Quality Initiative (ADQI) group, aid in assessment of the severity of a person's acute kidney injury. The acronym RIFLE is used to define the spectrum of progressive kidney injury seen in AKI:[12][13] Pathophysiology of acute kidney injury in the proximal renal tubule * Risk: 1.5-fold increase in the serum creatinine, or glomerular filtration rate (GFR) decrease by 25 percent, or urine output <0.5 mL/kg per hour for six hours. * Injury: Two-fold increase in the serum creatinine, or GFR decrease by 50 percent, or urine output <0.5 mL/kg per hour for 12 hours * Failure: Three-fold increase in the serum creatinine, or GFR decrease by 75 percent, or urine output of <0.3 mL/kg per hour for 24 hours, or no urine output (anuria) for 12 hours * Loss: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than four weeks * End-stage kidney disease: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than three months ### Evaluation[edit] The deterioration of kidney function may be signaled by a measurable decrease in urine output. Often, it is diagnosed on the basis of blood tests for substances normally eliminated by the kidney: urea and creatinine. Additionally, the ratio of BUN to creatinine is used to evaluate kidney injury. Both tests have their disadvantages. For instance, it takes about 24 hours for the creatinine level to rise, even if both kidneys have ceased to function. A number of alternative markers have been proposed (such as NGAL, KIM-1, IL18 and cystatin C), but none of them are currently established enough to replace creatinine as a marker of kidney function.[14] Once the diagnosis of AKI is made, further testing is often required to determine the underlying cause. It is useful to perform a bladder scan or a post void residual to rule out urinary retention. In post void residual, a catheter is inserted into the urinary tract immediately after urinating to measure fluid still in the bladder. 50–100 ml suggests neurogenic bladder dysfunction. These may include urine sediment analysis, renal ultrasound and/or kidney biopsy. Indications for kidney biopsy in the setting of AKI include the following:[15] 1. Unexplained AKI, in a patient with two non-obstructed normal sized kidneys 2. AKI in the presence of the nephritic syndrome 3. Systemic disease associated with AKI 4. Kidney transplant dysfunction In medical imaging, the acute changes in the kidney are often examined with renal ultrasonography as the first-line modality, where CT scan and magnetic resonance imaging (MRI) are used for the follow-up examinations and when US fails to demonstrate abnormalities. In evaluation of the acute changes in the kidney, the echogenicity of the renal structures, the delineation of the kidney, the renal vascularity, kidney size and focal abnormalities are observed.[16] CT is preferred in renal traumas, but US is used for follow-up, especially in the patients suspected for the formation of urinomas. A CT scan of the abdomen will also demonstrate bladder distension or hydronephrosis. However, in AKI, the use of IV contrast is contraindicated as the contrast agent used is nephrotoxic. * Renal ultrasonograph of acute pyelonephritis with increased cortical echogenicity and blurred delineation of the upper pole.[16] * Renal ultrasonograph in renal failure after surgery with increased cortical echogenicity and kidney size. Biopsy showed acute tubular necrosis.[16] * Renal ultrasonograph in renal trauma with laceration of the lower pole and subcapsular fluid collection below the kidney.[16] ## Treatment[edit] The management of AKI hinges on identification and treatment of the underlying cause. The main objectives of initial management are to prevent cardiovascular collapse and death and to call for specialist advice from a nephrologist. In addition to treatment of the underlying disorder, management of AKI routinely includes the avoidance of substances that are toxic to the kidneys, called nephrotoxins. These include NSAIDs such as ibuprofen or naproxen, iodinated contrasts such as those used for CT scans, many antibiotics such as gentamicin, and a range of other substances.[17] Monitoring of kidney function, by serial serum creatinine measurements and monitoring of urine output, is routinely performed. In the hospital, insertion of a urinary catheter helps monitor urine output and relieves possible bladder outlet obstruction, such as with an enlarged prostate. ### Prerenal[edit] In prerenal AKI without fluid overload, administration of intravenous fluids is typically the first step to improving kidney function. Volume status may be monitored with the use of a central venous catheter to avoid over- or under-replacement of fluid. If low blood pressure persists despite providing a person with adequate amounts of intravenous fluid, medications that increase blood pressure (vasopressors) such as norepinephrine and in certain circumstances medications that improve the heart's ability to pump (known as inotropes) such as dobutamine may be given to improve blood flow to the kidney. While a useful vasopressor, there is no evidence to suggest that dopamine is of any specific benefit and may be harmful.[18] ### Intrinsic[edit] The myriad causes of intrinsic AKI require specific therapies. For example, intrinsic AKI due to vasculitis or glomerulonephritis may respond to steroid medication, cyclophosphamide, and (in some cases) plasma exchange. Toxin-induced prerenal AKI often responds to discontinuation of the offending agent, such as ACE inhibitors, ARB antagonists, aminoglycosides, penicillins, NSAIDs, or paracetamol.[7] The use of diuretics such as furosemide, is widespread and sometimes convenient in improving fluid overload. It is not associated with higher mortality (risk of death),[19] nor with any reduced mortality or length of intensive care unit or hospital stay.[20] ### Postrenal[edit] If the cause is obstruction of the urinary tract, relief of the obstruction (with a nephrostomy or urinary catheter) may be necessary. ### Renal replacement therapy[edit] Renal replacement therapy, such as with hemodialysis, may be instituted in some cases of AKI. Renal replacement therapy can be applied intermittently (IRRT) and continuously (CRRT). Study results regarding differences in outcomes between IRRT and CRRT are inconsistent. A systematic review of the literature in 2008 demonstrated no difference in outcomes between the use of intermittent hemodialysis and continuous venovenous hemofiltration (CVVH) (a type of continuous hemodialysis).[21] Among critically ill patients, intensive renal replacement therapy with CVVH does not appear to improve outcomes compared to less intensive intermittent hemodialysis.[17][22] However, other studies demonstrated that compared with IRRT, initiation of CRRT is associated with a lower likelihood of chronic dialysis.[23][24] ### Complications[edit] Metabolic acidosis, hyperkalemia, and pulmonary edema may require medical treatment with sodium bicarbonate, antihyperkalemic measures, and diuretics. Lack of improvement with fluid resuscitation, therapy-resistant hyperkalemia, metabolic acidosis, or fluid overload may necessitate artificial support in the form of dialysis or hemofiltration.[5] ### Early recovery of AKI[edit] AKI recovery can be classified into three stages 1–3 on the basis of the inverse of the AKI KDIGO serum creatinine criteria. [25] ## Prognosis[edit] ### Mortality[edit] Mortality after AKI remains high, AKI has a death rate as high as 20%, which may reach up to 50% in the intensive care unit (ICU). Each year, around two million people die of AKI worldwide.[26] AKI develops in 5% to 30% of patients who undergo cardiothoracic surgery, depending on the definition used for AKI.[27] If AKI develops after major abdominal surgery (13.4% of all people who have undergone major abdominal surgery) the risk of death is markedly increased (over 12-fold).[28] ### Kidney function[edit] Depending on the cause, a proportion of patients (5–10%) will never regain full kidney function, thus entering end-stage kidney failure and requiring lifelong dialysis or a kidney transplant. Patients with AKI are more likely to die prematurely after being discharged from hospital, even if their kidney function has recovered.[2] The risk of developing chronic kidney disease is increased (8.8-fold).[29] ## Epidemiology[edit] New cases of AKI are unusual but not rare, affecting approximately 0.1% of the UK population per year (2000 ppm/year), 20x incidence of new ESKD (end-stage kidney disease). AKI requiring dialysis (10% of these) is rare (200 ppm/year), 2x incidence of new ESKD.[30] There is an increased incidence of AKI in agricultural workers, particularly those paid by the piece. No other traditional risk factors, including age, BMI, diabetes, or hypertension, were associated with incident AKI. Agricultural workers are at increased risk for AKI because of occupational hazards such as dehydration and heat illness.[31] Acute kidney injury is common among hospitalized patients. It affects some 3–7% of patients admitted to the hospital and approximately 25–30% of patients in the intensive care unit.[32] Acute kidney injury was one of the most expensive conditions seen in U.S. hospitals in 2011, with an aggregated cost of nearly $4.7 billion for approximately 498,000 hospital stays.[33] This was a 346% increase in hospitalizations from 1997, when there were 98,000 acute kidney injury stays.[34] According to a review article of 2015, there has been an increase in cases of acute kidney injury in the last 20 years which cannot be explained solely by changes to the manner of reporting.[35] ## History[edit] Before the advancement of modern medicine, acute kidney injury was referred to as uremic poisoning while uremia was contamination of the blood with urine. Starting around 1847, uremia came to be used for reduced urine output, a condition now called oliguria, which was thought to be caused by the urine's mixing with the blood instead of being voided through the urethra.[citation needed] Acute kidney injury due to acute tubular necrosis (ATN) was recognized in the 1940s in the United Kingdom, where crush injury victims during the London Blitz developed patchy necrosis of kidney tubules, leading to a sudden decrease in kidney function.[36] During the Korean and Vietnam wars, the incidence of AKI decreased due to better acute management and administration of intravenous fluids.[37] ## See also[edit] * BUN-to-creatinine ratio * Chronic kidney disease * Dialysis * Kidney failure * Rhabdomyolysis * Contrast-induced nephropathy * Ischemia-reperfusion injury of the appendicular musculoskeletal system * Kidney Ischemia ## References[edit] 1. ^ Webb S, Dobb G (December 2007). "ARF, ATN or AKI? It's now acute kidney injury". Anaesthesia and Intensive Care. 35 (6): 843–44. doi:10.1177/0310057X0703500601. PMID 18084974. 2. ^ a b Dan Longo; Anthony Fauci; Dennis Kasper; Stephen Hauser; J. Jameson; Joseph Loscalzo (July 21, 2011). Harrison's Principles of Internal Medicine, 18 edition. McGraw-Hill Professional. 3. ^ Mehta RL, Kellum JA, Shah SV, Molitoris BA, Ronco C, Warnock DG, Levin A (2007). "Acute Kidney Injury Network: report of an initiative to improve outcomes in acute kidney injury". Critical Care (London, England). 11 (2): R31. doi:10.1186/cc5713. PMC 2206446. PMID 17331245. 4. ^ Skorecki K, Green J, Brenner BM (2005). "Chronic renal failure". In Kasper DL, Braunwald E, Fauci AS, et al. (eds.). Harrison's Principles of Internal Medicine (16th ed.). New York, NY: McGraw-Hill. pp. 1653–63. ISBN 978-0-07-139140-5. 5. ^ a b Weisberg LS (December 2008). "Management of severe hyperkalemia". Crit. Care Med. 36 (12): 3246–51. doi:10.1097/CCM.0b013e31818f222b. PMID 18936701. S2CID 33811639. 6. ^ Tierney, Lawrence M.; Stephen J. McPhee; Maxine A. Papadakis (2004). "22". CURRENT Medical Diagnosis and Treatment 2005 (44th ed.). McGraw-Hill. p. 871. ISBN 978-0-07-143692-2. 7. ^ a b c d Brady HR, Brenner BM (2005). "Chronic renal failure". In Kasper DL, Braunwald E, Fauci AS, et al. (eds.). Harrison's Principles of Internal Medicine (16th ed.). New York, NY: McGraw-Hill. pp. 1644–53. ISBN 978-0-07-139140-5. 8. ^ a b c Goldman-Cecil medicine. Goldman, Lee (Physician),, Schafer, Andrew I. (25th ed.). Philadelphia, PA. 15 April 2015. p. 781. ISBN 978-1455750177. OCLC 899727756.CS1 maint: others (link) 9. ^ a b Thiele, R. Et al. AKI Associated with Cardiac Surgery. Clinical Journal of the American Society of Nephrology. 2015; Vol 10, n 3. 10. ^ Jim Cassidy; Donald Bissett; Roy A. J. Spence; Miranda Payne (1 January 2010). Oxford Handbook of Oncology. Oxford University Press. p. 706. ISBN 978-0-19-956313-5. 11. ^ Kidney Disease: Improving Global Outcomes (KDIGO) Acute Kidney Injury Work Group. KDIGO Clinical Practice Guideline for Acute Kidney Injury. Kidney inter. 12. ^ Bellomo R, Ronco C, Kellum JA, Mehta RL, Palevsky P (2004). "Acute renal failure - definition, outcome measures, animal models, fluid therapy and information technology needs: the Second International Consensus Conference of the Acute Dialysis Quality Initiative (ADQI) Group". Crit Care. 8 (4): R204–12. doi:10.1186/cc2872. PMC 522841. PMID 15312219. 13. ^ Lameire N, Van Biesen W, Vanholder R (2005). "Acute renal failure". Lancet. 365 (9457): 417–30. doi:10.1016/S0140-6736(05)17831-3. PMID 15680458. S2CID 37093076. 14. ^ Hall, P (2018). "The future for diagnostic tests of acute kidney injury in critical care: evidence synthesis, care pathway analysis and research prioritisation". Health Technol Assess. 22 (32): 1–274. doi:10.3310/hta22320. PMC 6004543. PMID 29862965. 15. ^ Papadakis MA, McPhee SJ (2008). Current Medical Diagnosis and Treatment. McGraw-Hill Professional. ISBN 978-0-07-159124-9. 16. ^ a b c d Content initially copied from: Hansen, Kristoffer; Nielsen, Michael; Ewertsen, Caroline (2015). "Ultrasonography of the Kidney: A Pictorial Review". Diagnostics. 6 (1): 2. doi:10.3390/diagnostics6010002. ISSN 2075-4418. PMC 4808817. PMID 26838799. (CC-BY 4.0) Archived 2017-10-16 at the Wayback Machine 17. ^ a b Palevsky PM, Zhang JH, O'Connor TZ, Chertow GM, Crowley ST, Choudhury D, Finkel K, Kellum JA, Paganini E, Schein RM, Smith MW, Swanson KM, Thompson BT, Vijayan A, Watnick S, Star RA, Peduzzi P (July 2008). "Intensity of renal support in critically ill patients with acute kidney injury". The New England Journal of Medicine. 359 (1): 7–20. doi:10.1056/NEJMoa0802639. PMC 2574780. PMID 18492867. 18. ^ Holmes CL, Walley KR (2003). "Bad medicine: low-dose dopamine in the ICU". Chest. 123 (4): 1266–75. doi:10.1378/chest.123.4.1266. PMID 12684320. 19. ^ Uchino S, Doig GS, Bellomo R, Morimatsu H, Morgera S, Schetz M, Tan I, Bouman C, Nacedo E, Gibney N, Tolwani A, Ronco C, Kellum JA (2004). "Diuretics and mortality in acute renal failure". Crit. Care Med. 32 (8): 1669–77. doi:10.1097/01.CCM.0000132892.51063.2F. PMID 15286542. S2CID 2642777. 20. ^ Davis A, Gooch I (2006). "The use of loop diuretics in acute renal failure in critically ill patients to reduce mortality, maintain renal function, or avoid the requirements for renal support". Emergency Medicine Journal. 23 (7): 569–70. doi:10.1136/emj.2006.038513. PMC 2579558. PMID 16794108. 21. ^ Pannu N, Klarenbach S, Wiebe N, Manns B, Tonelli M (February 2008). "Renal replacement therapy in patients with acute renal failure: a systematic review". JAMA: The Journal of the American Medical Association. 299 (7): 793–805. doi:10.1001/jama.299.7.793. PMID 18285591. 22. ^ Bellomo R, Cass A, Cole L, Finfer S, Gallagher M, Lo S, McArthur C, McGuinness S, Myburgh J, Norton R, Scheinkestel C, Su S (October 2009). "Intensity of continuous renal-replacement therapy in critically ill patients" (PDF). The New England Journal of Medicine. 361 (17): 1627–38. doi:10.1056/NEJMoa0902413. PMID 19846848. 23. ^ Schoenfelder, T; Chen, X; Bless, HH (March 2017). "Effects of continuous and intermittent renal replacement therapies among adult patients with acute kidney injury". GMS Health Technol Assess. 13 (Doc01 (20170301)). Archived from the original on 8 August 2017. Retrieved 8 August 2017. 24. ^ Schneider, AG; Bellomo, R; Bagshaw, SM; Glassford, NJ; Lo, S; Jun, M; Cass, A; Gallagher, M (June 2013). "Choice of renal replacement therapy modality and dialysis dependence after acute kidney injury: a systematic review and meta-analysis" (PDF). Intensive Care Medicine. 39 (6): 987–97. doi:10.1007/s00134-013-2864-5. hdl:11343/218110. PMID 23443311. S2CID 25491242. 25. ^ Duff, Stephen; Murray, Patrick T. (7 September 2020). "Defining Early Recovery of Acute Kidney Injury". Clinical Journal of the American Society of Nephrology. 15 (9): 1358–1360. doi:10.2215/CJN.13381019. ISSN 1555-9041. PMID 32238366. 26. ^ Duan, Shao-Bin; Liu, Fu-You; Liu, Hong; Tang, Mi-Mi; Li, Xu-Wei; Cheng, Wei; Xu, Jun; Yang, Yuan; Luo, Min (2017-08-11). "A new scoring model for the prediction of mortality in patients with acute kidney injury". Scientific Reports. 7 (1): 7862. Bibcode:2017NatSR...7.7862L. doi:10.1038/s41598-017-08440-w. ISSN 2045-2322. PMC 5554175. PMID 28801674. 27. ^ Hobson Charles E.; Yavas Sinan; Segal Mark S.; Schold Jesse D.; Tribble Curtis G.; Layon A. Joseph; Bihorac Azra (2009-05-12). "Acute Kidney Injury Is Associated With Increased Long-Term Mortality After Cardiothoracic Surgery". Circulation. 119 (18): 2444–2453. doi:10.1161/CIRCULATIONAHA.108.800011. PMID 19398670. 28. ^ O'Connor, M. E.; Kirwan, C. J.; Pearse, R. M.; Prowle, J. R. (24 November 2015). "Incidence and associations of acute kidney injury after major abdominal surgery". Intensive Care Medicine. 42 (4): 521–30. doi:10.1007/s00134-015-4157-7. PMID 26602784. S2CID 9298414. 29. ^ Coca, SG; Singanamala, S; Parikh, CR (March 2012). "Chronic kidney disease after acute kidney injury: a systematic review and meta-analysis". Kidney International. 81 (5): 442–48. doi:10.1038/ki.2011.379. PMC 3788581. PMID 22113526. 30. ^ "Renal Medicine: Acute Kidney Injury (AKI)". Renalmed.co.uk. 2012-05-23. Archived from the original on 2013-08-08. Retrieved 2013-07-17. 31. ^ Moyce, Sally, RN, BSN; Joseph, Jill, MD, PhD; Tancredi, Daniel, PhD; Mitchell, Diane, PhD; Schenker, Marc, MD, MPH (2016) "Cumulative Incidence of Acute Kidney Injury in California's Agricultural Workers" Journal of Environmental Medicine JOEM 58 Number 4, April 2016 391–97 32. ^ Brenner and Rector's The Kidney. Philadelphia: Saunders. 2007. ISBN 978-1-4160-3110-9. 33. ^ Torio CM, Andrews RM. National Inpatient Hospital Costs: The Most Expensive Conditions by Payer, 2011. HCUP Statistical Brief #160. Agency for Healthcare Research and Quality, Rockville, MD. August 2013. "Statistical Brief #160". Archived from the original on 2017-03-14. Retrieved 2017-05-01. 34. ^ Pfuntner A., Wier L.M., Stocks C. Most Frequent Conditions in U.S. Hospitals, 2011. HCUP Statistical Brief #162. September 2013. Agency for Healthcare Research and Quality, Rockville, MD. "Most Frequent Conditions in U.S. Hospitals, 2011 #162". Archived from the original on 2016-03-04. Retrieved 2016-02-09. 35. ^ Siew ED, Davenport A (2015). "The growth of acute kidney injury: a rising tide or just closer attention to detail?". Kidney International (Review). 87 (1): 46–61. doi:10.1038/ki.2014.293. PMC 4281297. PMID 25229340. 36. ^ Bywaters EG, Beall D (1941). "Crush injuries with impairment of renal function". Br Med J. 1 (4185): 427–32. doi:10.1136/bmj.1.4185.427. PMC 2161734. PMID 20783577. 37. ^ Schrier RW, Wang W, Poole B, Mitra A (2004). "Acute renal failure: definitions, diagnosis, pathogenesis, and therapy". J. Clin. Invest. 114 (1): 5–14. doi:10.1172/JCI22353. PMC 437979. PMID 15232604. ## External links[edit] Classification D * ICD-10: N17 * ICD-9-CM: 584 * MeSH: D058186 * DiseasesDB: 11263 External resources * MedlinePlus: 000501 * eMedicine: med/1595 * Patient UK: Acute kidney injury * 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 Organ failure General * Heart failure * Respiratory failure * Liver failure * Acute * Chronic * Renal failure * Acute * Chronic * Encephalopathy Multiple * Multiple organ dysfunction syndrome [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Acute kidney injury	c2609414	26,107	wikipedia	https://en.wikipedia.org/wiki/Acute_kidney_injury	2021-01-18T18:58:18	{"mesh": ["D058186"], "umls": ["C2609414", "C0022660"], "icd-9": ["584"], "icd-10": ["N17"], "wikidata": ["Q424337"]}
For the deep-sea gastropod that incorporates iron into its shell and foot, see Chrysomallon squamiferum. Scaly face in a budgie Scaly foot, or knemidocoptiasis is a bird ailment that is common among caged birds and also affects many other bird species. It is caused by mites in the genus Knemidocoptes which burrow into the bird's flesh. The tunnels made by the mites within the skin cause dermatitis and scaly lesions. Scaly face is caused by the same mite responsible for scaly foot and other related mites cause depluming. The condition is transmitted from one bird to another by direct prolonged contact. ## Contents * 1 Causes * 2 Symptoms * 3 Etymology * 4 References * 5 See also * 5.1 External links ## Causes[edit] Scaly foot, otherwise known as knemidocoptiasis, is caused by burrowing mites in the genus Knemidocoptes. The condition can be compared with sarcoptic mange in mammals, but does not seem to cause the same level of itching. The birds chiefly affected are galliformes (chickens and turkeys), passerines (finches, canaries, sparrows, robins, wrens), and psittacine birds (parrots, macaws, parakeets, budgerigars). The condition sometimes additionally affects piciformes (woodpeckers, toucans) and anseriformes (ducks, geese, swans), raptors and other birds. The two species of mite most often implicated are K. jamaicensis and K. intermedius. Other related species of mite affect feather follicles and cause depluming. The mites are mostly transmitted by prolonged direct contact, particularly from parent bird to unfledged nestling.[1] ## Symptoms[edit] Scaly foot causes lesions of the skin with dermatitis and thickening of the skin. Commonly known as scaly face, scaly legs, or tassel foot, knemidocoptiasis affects primarily the face and legs of birds around the world worldwide and can be fatal. [2] ## Etymology[edit] Knemidocoptic mange [neʺmĭ-do-kopʹtik mānj] From the Latin manducare (to itch), mange is a skin disease caused by mites in domestic and wild animals. Knemidocoptic, from the Greek knemid (greave, a piece of armor that protects the leg) and koptein (to cut), refers to the morphology and pathogenesis of mites of the genus Knemidocoptes, which are burrowing mites of birds. [2] ## References[edit] This article incorporates public domain text from the CDC as cited 1. ^ Wade, Laura (1 December 2006). "Knemidocoptiasis in birds". DVM360. Retrieved 26 January 2016. 2. ^ a b Somda, Begaleaon Helene (October 2014). "Etymologia: Knemidocoptic Mange". Emerg Infect Dis [Internet]. 20 (10): 1715. doi:10.3201/eid2010.ET2010. PMC 4193189. ## See also[edit] * Scaly leg ### External links[edit] * http://www3.sympatico.ca/davehansen/scaly.html \- Describes the infection and treatment possibilities. * http://veterinarymedicine.dvm360.com/knemidocoptiasis-birds \- Describes the Life Cycle and Transimission pattern of the Knemidocoptes mites, disease symptoms in various bird species, diagnosis techniques, and treatments commonly used by veterinary professionals [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Scaly foot	c0277459	26,108	wikipedia	https://en.wikipedia.org/wiki/Scaly_foot	2021-01-18T18:32:28	{"umls": ["C0277459"], "wikidata": ["Q7429850"]}
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600). Clinical Features Wang et al. (2000) described a form of agenesis of permanent teeth in a large Chinese kindred. Penetrance was estimated to be 0.88, and no significant clinical manifestations other than the oligodontia were found. Agenesis ranged from a few teeth to the entire set of teeth, involved only the permanent teeth, and usually appeared at age 7 or 8 years, when primary teeth are normally replaced by permanent teeth. Some of the affected individuals had development of first and second molars. In some cases, it appeared that the remaining teeth were not permanent teeth; instead, they were primary and sometimes remained until the forties. Because of the impression that the tooth abnormality in this kindred had been hitherto undescribed, Wang et al. (2000) referred to it as 'He-Zhao deficiency.' The kindred came from a small village in Xunyi County of Shaanxi Province in northwest China. Mapping By linkage analysis in the large Chinese kindred with selective tooth agenesis studied by Wang et al. (2000), Liu et al. (2001) found maximum 2-point and multipoint lod scores of 13.29 at theta = zero (on marker D10S196) and 18.09 (between markers D10S1772 and D10S1766), respectively. Haplotype analysis narrowed the assignment to a 5.5-cM interval flanked by markers D10S604 and D10S568 on chromosome 10q11.2. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	TOOTH AGENESIS, SELECTIVE, 5	c1858210	26,109	omim	https://www.omim.org/entry/610926	2019-09-22T16:03:54	{"doid": ["0050591"], "mesh": ["C565757"], "omim": ["610926"], "orphanet": ["99798"], "synonyms": ["Alternative titles", "HE-ZHAO DEFICIENCY", "Selective tooth agenesis", "HYPODONTIA/OLIGODONTIA 5"]}
Controversial psychiatric diagnosis Psychiatry in Russia and the USSR * KGB (managing organ of psychiatry) * Mental health in Russia * Political abuse in Russia * Political abuse in the USSR * Campaign Against Psychiatric Abuse * Working Commission * Cases of political abuse * Struggle against political abuse * Serbsky Center * Bekhterev Psychoneurological Institute * Independent Psychiatric Association * Sluggish schizophrenia * Sulfozinum * Psikhushka Sluggish schizophrenia or slow progressive schizophrenia (Russian: вялотеку́щая шизофрени́я, vyalotekushchaya shizofreniya)[1] was a diagnostic category used in the Soviet Union to describe what was claimed to be a form of schizophrenia characterized by a slowly progressive course; it was diagnosed even in patients who showed no symptoms of schizophrenia or other psychotic disorders, on the assumption that these symptoms would appear later.[2] It was developed in the 1960s by Soviet psychiatrist Andrei Snezhnevsky and his colleagues,[3][4] and was used exclusively in the USSR and several Eastern Bloc countries, until the fall of Communism starting in 1989.[5] The diagnosis has long been discredited because of its scientific inadequacy and its use as a means of confining dissenters.[6] It has never been used or recognized outside of the Soviet Union,[7] or by international organizations such as the World Health Organization.[8] It is considered a prime example of the political abuse of psychiatry in the Soviet Union.[9] Sluggish schizophrenia was the most infamous of diagnoses used by Soviet psychiatrists, due to its usage against political dissidents.[10] After being discharged from a hospital, persons diagnosed with sluggish schizophrenia were deprived of their civic rights, credibility and employability.[11] The usage of this diagnosis has been internationally condemned.[12] In the Russian version of the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10), which has long been used throughout present-day Russia, sluggish schizophrenia is no longer listed as a form of schizophrenia,[13] but it is still included as a schizotypal disorder in section F21 of chapter V.[14] According to Sergei Jargin, the same Russian term "vyalotekushchaya" for sluggish schizophrenia continues to be used and is now translated in English summaries of articles not as "sluggish" but as "slow progressive".[1] ## Contents * 1 Development of theory * 2 Use against political dissidents * 3 Premises for using the diagnosis * 4 Popularity of diagnosis * 5 Systematics by Snezhnevsky * 5.1 Conditions posed as symptoms * 6 Recognizing method, treatment and study * 7 Western criticism * 8 Recurrence in post-Soviet Russia * 9 See also * 10 References * 11 Sources * 12 Further reading ## Development of theory[edit] In the 1960s, professor Andrei Snezhnevsky, the most prominent theorist of Soviet psychiatry and director of the Institute of Psychiatry of the USSR Academy of Medical Sciences, developed a novel classification of mental disorders postulating an original set of diagnostic criteria.[15] Snezhnevsky and his colleagues who developed the concept were supported by Soviet psychiatrists Fedor Kondratev, Sergei Semyonov, and Yakov Frumkin.[16] All were members of the "Moscow school" of psychiatry. A majority of experts believe that the concept was developed under instructions from the Soviet secret service KGB and the Communist Party.[17] ## Use against political dissidents[edit] See also: Political abuse of psychiatry in the Soviet Union Psychiatric diagnoses such as sluggish schizophrenia were used in the USSR for political purposes;[18] the diagnosis of sluggish schizophrenia was most frequently used for Soviet dissidents.[19] Sluggish schizophrenia as a diagnostic category was created to facilitate the stifling of dissidents and was a root of self-deception among psychiatrists to placate their consciences when the doctors acted as a tool of oppression in the name of a political system.[20] American psychiatrist Peter Breggin points out that the term “sluggish schizophrenia” was created to justify involuntary treatment of political dissidents with drugs normally used for psychiatric patients.[21] Critics implied that Snezhnevsky designed the Soviet model of schizophrenia (and this diagnosis) to make political dissent a mental illness.[22] St. Petersburg academic psychiatrist professor Yuri Nuller notes that the concept of Snezhnevsky's school allowed psychiatrists to consider, for example, schizoid psychopathy and even schizoid character traits as early, delayed in their development, stages of the inevitable progredient process, rather than as personality traits inherent to the individual, the dynamics of which might depend on various external factors.[23] The same also applied to a number of other personality disorders.[23] It entailed the extremely broadened diagnostics of sluggish (neurosis-like, psychopathy-like) schizophrenia.[23] Despite a number of its controversial premises, but in line with the traditions of then Soviet science, Snezhnevsky's hypothesis immediately acquired the status of dogma, which was later overcome in other disciplines but firmly stuck in psychiatry.[24] Snezhnevsky's concept, with its dogmatism, proved to be psychologically comfortable for many psychiatrists, relieving them from doubt when making a diagnosis.[24] On the covert orders of the KGB, thousands of social and political reformers—Soviet dissidents—were incarcerated in mental hospitals after being labelled with diagnoses of sluggish schizophrenia.[25] Snezhnevsky himself diagnosed, or was otherwise involved in, a series of famous dissident cases,[19] and in dozens of cases he personally signed a commission decision on the legal insanity of dissidents who were in fact mentally healthy, including Vladimir Bukovsky, Natalya Gorbanevskaya, Leonid Plyushch, Mikola Plakhotnyuk,[26] and Pyotr Grigorenko.[27] Revaz Korinteli, a professor of the Grigol Robakidze University, says that Snezhnevsky broadened the borders of schizophrenia, and in this connection there was legal and theoretical justification for employing compulsory, involuntary treatment of dissenters in mental hospitals.[28] ## Premises for using the diagnosis[edit] According to the Global Initiative on Psychiatry chief executive Robert van Voren, the political abuse of psychiatry in the USSR arose from the concept that people who opposed the Soviet regime were mentally ill (since there was no logical reason to oppose the sociopolitical system considered the best in the world).[29] The diagnosis of sluggish schizophrenia furnished a framework for explaining this behavior.[29] This seemed to many Soviet psychiatrists a logical explanation for why someone would be willing to abandon his happiness, family, and career for a conviction so different from what most individuals seemed to believe.[17] ## Popularity of diagnosis[edit] Because of diagnoses of sluggish schizophrenia, Russia in 1974 had 5–7 cases of schizophrenia per 1,000 population, compared to 3–4 per 1,000 in the United Kingdom.[30] In the 1980s, Russia had three times as many schizophrenic patients per capita as the US, twice as many schizophrenic patients as West Germany, Austria and Japan,[31] and more schizophrenic patients than any Western country.[31] The city with the highest diagnosed prevalence of schizophrenia in the world was Moscow.[32] Along with paranoia, sluggish schizophrenia was the diagnosis most frequently used for the psychiatric incarceration of dissenters.[15] Darrel Regier of the National Institute of Mental Health, one of the U.S. experts who visited Soviet psychiatric hospitals in 1989, testified that a "substantial number" of political dissenters had been recognized as mentally sick on the basis of such symptoms as "anti-Soviet thoughts" or "delusions of reformism".[33] According to Moscow psychiatrist Alexander Danilin, the nosological approach in the Moscow psychiatric school established by Andrei Snezhnevsky (whom Danilin considered a state criminal) boiled down to the ability to diagnose schizophrenia.[34] ## Systematics by Snezhnevsky[edit] The Soviet model of schizophrenia is based on the hypothesis that a fundamental characteristic (by which schizophrenia spectrum disorders are distinguished clinically) is its longitudinal course.[35] The hypothesis implies three main types of schizophrenia: * Continuous: unremitting, proceeding rapidly ("malignant") or slowly ("sluggish"), with a poor prognosis * Periodic (or recurrent): characterized by an acute attack, followed by full remission with little or no progression * Mixed (German: schubweise; in German, schub means "phase" or "attack"): mixture of continuous and periodic types which occurs periodically and is characterized by only partial remission.[35] The classification of schizophrenia types attributed to Snezhnevsky[36] is still used in Russia,[37] and considers sluggish schizophrenia an example of the continuous type.[38] The prevalence of Snezhnevsky's theories has particularly led to a broadening of the boundaries of disease such that even the mildest behavioral change is interpreted as indication of mental disorder.[39] ### Conditions posed as symptoms[edit] A carefully crafted description of sluggish schizophrenia established that psychotic symptoms were non-essential for the diagnosis, but symptoms of psychopathy, hypochondria, depersonalization or anxiety were central to it.[15] Symptoms considered part of the "negative axis" included pessimism, poor social adaptation and conflict with authorities, and were themselves sufficient for a formal diagnosis of "sluggish schizophrenia with few symptoms".[15] According to Snezhnevsky, patients with sluggish schizophrenia could present as seemingly sane but manifest minimal (and clinically relevant) personality changes which could remain unnoticed by the untrained eye.[15] Patients with non-psychotic mental disorders (or who were not mentally ill) could be diagnosed with sluggish schizophrenia.[15] Harold Merskey and Bronislava Shafran write that many conditions which would probably be diagnosed elsewhere as hypochondriacal or personality disorders, anxiety disorders or depressive disorders appear liable to come under the banner of slowly progressive schizophrenia in Snezhnevsky's system.[40] The incidence of sluggish schizophrenia increased because, according to Snezhnevsky and his colleagues, patients with this diagnosis were capable of socially functioning almost normally.[29] Their symptoms could resemble those of a neurosis or paranoia.[29] Patients with paranoid symptoms retained insight into their condition, but overestimated their significance and had grandiose ideas of reforming society.[29] Sluggish schizophrenia could have such symptoms as "reform delusions", "perseverance" and "struggle for the truth".[29] As Viktor Styazhkin reported, Snezhnevsky diagnosed a reform delusion in every case where a patient "develops a new principle of human knowledge, drafts an ideal of human happiness or other projects for the benefit of mankind".[41] During the 1960s and 1970s, theories which contained ideas about reforming society, struggling for the truth, and religious convictions were not considered delusional paranoid disorders in nearly any foreign classifications; however, Soviet psychiatry (for ideological reasons) considered critiques of the political system and proposals to reform it as delusional behavior.[42] The diagnoses of sluggish schizophrenia and paranoid states with delusions of reform were used only in the Soviet Union and several Eastern European countries.[43] An audience member at a lecture by Georgi Morozov on forensic psychiatry in the Serbsky Institute asked, “Tell us, Georgi Vasilevich, what is actually the diagnosis of sluggish schizophrenia?”[44] Since the question was asked ironically Morozov replied ironically: “You know, dear colleagues, this is a very peculiar disease. There are not delusional disorders, there are not hallucinations, but there is schizophrenia!”[44] The two Soviet psychiatrists Marat Vartanyan and Andrei Mukhin in their interview to the Soviet newspaper Komsomolskaya Pravda issued on 15 July 1987 explained how it was possible that a person might be mentally ill, while people surrounding him did not notice it, for example, in the case of "sluggish schizophrenia".[45] What was meant by saying that a person is mentally ill?[45] Marat Vartanyan said, "… When a person is obsessively occupied with something. If you discuss another subject with him, he is a normal person who is healthy, and who may be your superior in intelligence, knowledge and eloquence. But as soon as you mention his favourite subject, his pathological obsessions flare up wildly."[45] Vartanyan confirmed that hundreds of people with this diagnosis were hospitalized in the Soviet Union.[45] According to Mukhin, it took place because "they disseminate their pathological reformist ideas among the masses."[45] A few months later the same newspaper listed "an exceptional interest in philosophical systems, religion and art" among symptoms of sluggish schizophrenia from a Manual on Psychiatry of Snezhnevsky's Moscow school.[46] ## Recognizing method, treatment and study[edit] The Leningrad Special Psychiatric Hospital of Prison Type of the USSR Ministry of Internal Affairs where Vladimir Bukovsky, Pyotr Grigorenko, Alexander Yesenin-Volpin and Viktor Fainberg were imprisoned[47] was one of the psychiatric hospitals of a special type used to "treat" litigiousness and reformism Only specially instructed psychiatrists could recognize sluggish schizophrenia to indefinitely treat dissenters in a "Special Psychiatric Hospital" with heavy doses of antipsychotic medication.[11] Convinced of the immortality of the totalitarian USSR, Soviet psychiatrists, especially in Moscow, did not hesitate to form "scientific" articles and defend dissertations by using the cases of dissidents.[48] For example, Snezhnevsky diagnosed dissident Vladimir Bukovsky as schizophrenic on 5 July 1962[49] and on 12 November 1971 wrote to writer Viktor Nekrasov that the characteristics of Bukovsky's mental disease were included in the dissertation by Snezhnevsky's colleague.[50] All the paper products were available in medical libraries.[48] As Semyon Gluzman recollects, when he returned to Kiev in 1982 after his absence of ten years, he was amazed to see all this "scientific" literature in open storage at the Kiev medical library and was even more amazed to read all the "ridiculous stuff" hardly put into scientific psychiatric terminology.[48] In their papers and dissertations on treatment for litigiousness and reformism, Kosachyov and other Soviet psychiatrists recommended compulsory treatment for persons with litigiousness and reformism, in the same psychiatric hospitals used for murderers:[51] > Compulsory treatment in psychiatric hospitals of special type is to be recommended in cases of brutal murders committed on delusional grounds as well as in cases of persistent litigiousness and reformism with an inclination to induce surrounding persons and with a tendency to repetition of the illegal acts. ## Western criticism[edit] Westerners first became aware of sluggish schizophrenia and its political uses in the mid-1970s, as a result of the high reported incidence of schizophrenia in the Russian population.[30] Snezhnevsky was personally attacked in the West as an example of psychiatric abuse in the USSR.[19] He was charged with cynically developing a system of diagnosis that could be bent for political purposes. American psychiatrist Alan A. Stone stated that Western criticism of Soviet psychiatry focused on Snezhnevsky personally because he was responsible for the diagnosis of sluggish schizophrenia for "reformism" and other such symptoms.[52] ## Recurrence in post-Soviet Russia[edit] In 2010, Yuri Savenko, the president of the Independent Psychiatric Association of Russia, warned that Professor Anatoly Smulevich, author of the monographs Problema Paranoyi (The Problem of Paranoia) (1972) and Maloprogredientnaya Shizofreniya (Continuous Sluggish Schizophrenia) (1987), which had contributed to the hyperdiagnosis of sluggish schizophrenia, had again begun to play the same role. Under his influence, therapists have begun to widely use antidepressants and antipsychotics but often in inadequate cases and in inappropriate doses, without consulting psychiatrists. This situation has opened up a huge new market for pharmaceutical firms, and the flow of the mentally ill to internists.[53] In their joint book Sociodinamicheskaya Psikhiatriya (Sociodynamic Psychiatry), Doctor of Medical Sciences professor of psychiatry Caesar Korolenko and Doctor of Psychological Sciences Nina Dmitrieva note that Smulevich's clinical description of sluggish schizophrenia is extremely elusive and includes almost all possible changes in mental status and conditions that occur in a person without psychopathology: euphoria, hyperactivity, unfounded optimism, irritability, explosiveness, sensitivity, inadequacy and emotional deficit, hysterical reactions with conversive and dissociative symptoms, infantilism, obsessive-phobic states and stubbornness.[54] At present, the hyperdiagnosis of schizophrenia becomes especially negative due to a large number of schizophreniform psychoses caused by the increasing popularity of various esoteric sects. They practice meditation, sensory deprivation, special exercises with rhythmic movements which directly stimulate the deep subconscious and, by doing so, lead to the development of psychoses with mainly reversible course.[55] Smulevich[56] bases the diagnosis of continuous sluggish schizophrenia, in particular, on appearance and lifestyle and stresses that the forefront in the picture of negative changes is given to the contrast between retaining mental activity (and sometimes quite high capacity for work) and mannerism, unusualness of one's appearance and entire lifestyle.[57] In his 2014 interview, Anatoly Smulevich says, "Now everything has slightly turned in a different way, sluggish schizophrenia has been transformed into schizotypal disorder, etc. I think it is not the end of his [Snezhnevsky's] teaching, because after a while, everything will get back into a rut, but it will not be a simple repetition but will get some new direction."[58] In 2009, Tatyana Dmitrieva, the then director of the Serbsky Center, said to the BBC Russian Service, "A diagnosis is now made only according to the international classification, so called ICD-10. In this classification, there is no sluggish schizophrenia, and therefore, even this diagnosis has not just been made for a long time."[59] However, according to the 2012 interview by the president of the Ukrainian Psychiatric Association Semyon Gluzman to Radio Liberty, though the diagnosis of sluggish schizophrenia no longer exists in Ukraine, in Russia, as far as he knows, this diagnosis still exists, and was given to Mikhail Kosenko, one of the accused in the Bolotnaya Square case.[60] The prosecution's case for his forced hospitalization rested on confirmation of the diagnosis of sluggish schizophrenia[8] that he has been treated for over the last 12 years, until 2013 when the diagnosis was changed to that of paranoid schizophrenia by the Serbsky Center experts who examined Kosenko and convinced the court to send him for compulsory treatment to a psychiatric hospital.[61] Zurab Kekelidze (ru), who heads the Serbsky Center and is the chief psychiatrist of the Ministry of Health and Social Development of the Russian Federation,[62] confirmed that Kosenko was diagnosed with sluggish schizophrenia.[63] According to the commentary by the Independent Psychiatric Association of Russia on the 2007 text by Vladimir Rotstein, a doctrinist of Snezhnevsky's school, there are sufficient patients with delusion of reformism in psychiatric inpatient facilities for involuntary treatment.[64] In 2012, delusion of reformism was mentioned as a symptom of mental disorder in Psychiatry: National Manual.[65] In the same year, Vladimir Pashkovsky in his paper reported that he diagnosed 4.7 percent of 300 patients with delusion of reform.[66] As Russian sociologist Alexander Tarasov wrote, "you will be treated in a hospital so that you and all your acquaintances get to learn forever that only such people as Anatoly Chubais or German Gref can be occupied with reforming in our country."[67] According to Raimonds Krumgolds, a former member of the political party The Other Russia, he was examined because of his "delusion of reformism", which gave rise to an assumption of slow progressive schizophrenia.[68] In 2012, Tyuvina and Balabanova in their joint paper reported that they used sulpiride to treat slow progressive schizophrenia.[69] ## See also[edit] * Drapetomania * Excited delirium * Female hysteria * The Protest Psychosis: How Schizophrenia Became a Black Disease ## References[edit] 1. ^ a b Jargin 2011. 2. ^ Sfera 2013. 3. ^ Smulevich 1989. sfn error: multiple targets (2×): CITEREFSmulevich1989 (help) 4. ^ Korolenko & Kensin 2002. 5. ^ Wilkinson 1986; Merskey & Shafran 1986; Gluzman 2013a; Korotenko & Alikina 2002, p. 18; Gershman 1984; Targum, Chaban & Mykhnyak 2013 6. ^ Merskey 1988. 7. ^ Moran 2010. 8. ^ a b RIANovosti 2013. 9. ^ Arutyunov Henry & 1987year.(Time of Perestroika). sfn error: no target: CITEREFArutyunov_Henry1987year.(Time_of_Perestroika) (help) 10. ^ Robertson & Walter 2013, p. 84. 11. ^ a b Plante 2013, p. 110. 12. ^ Gershman 1984. 13. ^ Savenko 2008. 14. ^ Russian adapted version of the ICD-10. 15. ^ a b c d e f Ougrin, Gluzman & Dratcu 2006. 16. ^ Korotenko & Alikina 2002, p. 46. 17. ^ a b Voren 2010b. 18. ^ Katona & Robertson 2005, p. 77. 19. ^ a b c Reich 1983. 20. ^ Tobin 2013. 21. ^ Breggin 1993. 22. ^ Stone 2002. 23. ^ a b c Nuller 2008, p. 17. 24. ^ a b Nuller 2008, p. 18. 25. ^ Healey 2011. 26. ^ Gluzman 2013b. 27. ^ Stone 1985, p. 11. 28. ^ Korinteli 2013. sfn error: no target: CITEREFKorinteli2013 (help) 29. ^ a b c d e f Voren (2010b, 2013) 30. ^ a b Gosden 2001, p. 22. 31. ^ a b Vasilenko 2004, p. 33. 32. ^ Park et al. 2014. 33. ^ Moseley 1989. 34. ^ Danilin 2008. 35. ^ a b Lavretsky 1998, p. 543. 36. ^ Bleikher 1984, p. 278. 37. ^ Zharikov & Tyulpin 2000, p. 371. 38. ^ Tiganov 1999, p. 414. 39. ^ Bloch & Reddaway 1985, p. 40. 40. ^ Merskey & Shafran 1986. 41. ^ Styazhkin 1992, p. 66. 42. ^ Korotenko & Alikina 2002, p. 19. 43. ^ Korotenko & Alikina 2002, p. 18. 44. ^ a b Gluzman 2009. 45. ^ a b c d e Voren (2010a, p. 492, 2013) 46. ^ Voren 2010a, p. 492. 47. ^ Fainberg 1975. 48. ^ a b c Gluzman 2013a. 49. ^ Popov 1992, p. 70. 50. ^ Snezhnevsky (2012, p. 287, 2014) 51. ^ UPA Herald 2013. 52. ^ Stone 1985, p. 8. 53. ^ Savenko 2010. 54. ^ Korolenko & Dmitrieva 2000, p. 18. 55. ^ Korolenko & Dmitrieva 2000, p. 21. 56. ^ Smulevich, AB (1989). "Sluggish schizophrenia in the modern classification of mental illness". Schizophr Bull. 15 (4): 533–9. doi:10.1093/schbul/15.4.533. PMID 2696084. 57. ^ Smulevich 2009. 58. ^ Smulevich & Morozov 2014. 59. ^ Fedenko 2009. 60. ^ Pavlova & Polyakovskaya 2012. 61. ^ Davidoff 2013. 62. ^ Safina 2011. 63. ^ Kekelidze 2013. 64. ^ NPZ 2007. 65. ^ Dmitrieva, Krasnov & Neznanov 2012, p. 322. 66. ^ Pashkovsky 2012. 67. ^ Tarasov 2006, p. 159. 68. ^ Krumgold 2012. 69. ^ Tyuvina & Balabanova 2012. ## Sources[edit] * The ICD-10 Classification of Mental and Behavioural Disorders. F21 Schizotypal Disorder. * МКБ-10: Классификация психических и поведенческих расстройств. F21 Шизотипическое расстройство [archived 2016-04-22]. Russian. * Проблема социальной опасности психически больных. Nezavisimiy Psikhiatricheskiy Zhurnal [The Independent Psychiatric Journal]. 2007 [Retrieved 18 February 2014];(№ 4):12–17. Russian. * Цитатник номера. Вестник Ассоциации психиатров Украины [The Herald of the Ukrainian Psychiatric Association]. 2013;(5). Russian. * RIA Novosti. Russian Protester Committed to Psychiatric Hospital Over Riot; 8 October 2013 [Retrieved 13 January 2014]. * Bleikher, Vadim [Вадим Блейхер]. Эпонимические термины в психиатрии, психотерапии и медицинской психологии. Словарь. Kiev: Головное издательство Издательского объединения «Вища школа» [Headquarters publishers of Publishing Association "Higher school"]; 1984. Russian. * Bloch, Sidney; Reddaway, Peter. Soviet psychiatric abuse: The shadow over world psychiatry. Westview Press; 1985. ISBN 0-8133-0209-9. p. 40. * Breggin, Peter. Psychiatry's role in the holocaust. International Journal of Risk & Safety in Medicine. 1993 [archived September 6, 2013];4(2):133–148. doi:10.3233/JRS-1993-4204. PMID 23511221. * Danilin, Alexander [Александр Данилин]. Тупик. Russkaya Zhizn. 28 March 2008 [Retrieved 21 April 2011]. Russian. * Davidoff, Victor. Soviet Psychiatry Returns. 13 October 2013 [Retrieved 9 January 2014]. * Dmitrieva, Tatyana; Krasnov, Valery; Neznanov, Nikolai; Semke, Valentin; Tiganov, Alexander [Татьяна Дмитриева, Валерий Краснов, Николай Незнанов, Валентин Семке, Александр Тиганов] (eds.). Психиатрия: Национальное руководство. Moscow: ГЭОТАР-Медиа [GEOTAR-Media]; 2012. Russian. ISBN 5970420301. p. 322. * Fainberg, Victor. My five years in mental hospitals. Index on Censorship. 1975;4(2):67–71. doi:10.1080/03064227508532427. * Fedenko, Pavel [Павел Феденко]. The BBC Russian Service. Был бы человек, а диагноз найдется; 9 October 2009. Russian. * Gershman, Carl. Psychiatric abuse in the Soviet Union. Society. July–August 1984;21(5):54–59. doi:10.1007/BF02695434. PMID 11615169. * Gluzman, Semyon [Семён Глузман]. История психиатрических репрессий. Вестник Ассоциации психиатров Украины [The Herald of the Ukrainian Psychiatric Association]. 2013a;(2). Russian. * Gluzman, Semyon [Семён Глузман]. Снежневский. 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International Journal of Culture and Mental Health. 2011;4(2):116–120. doi:10.1080/17542863.2010.519485. * Katona, Cornelius; Robertson, Mary. Psychiatry at a glance. Wiley-Blackwell; 2005. ISBN 1-4051-2404-0. p. 77. * Kekelidze, Zurab [Зураб Кекелидзе]. Independent Psychiatric Association of Russia. Кому выгоден миф о карательной психиатрии? (Пресс-конференция проф. З.И. Кекелидзе в связи с направлением на принудительное лечение оппозиционера Михаила Косенко); 22 October 2013 [Retrieved 9 August 2014]. Russian. * Korolenko, Caesar; Dmitrieva, Nina [Цезарь Короленко, Нина Дмитриева]. Социодинамическая психиатрия. Moscow: Академический проект [Academic project]; 2000. Russian. ISBN 5829100150. * Korolenko, Caesar; Kensin, Dennis. Reflections on the past and present state of Russian psychiatry. Anthropology & Medicine. 2002;9(1):51–64. doi:10.1080/13648470220130017. PMID 26953493. * Korotenko, Ada; Alikina, Natalia [Ада Коротенко, Наталия Аликина]. Советская психиатрия: Заблуждения и умысел. Kiev: Издательство «Сфера» [Publishing house "Sphere"]; 2002. Russian. ISBN 966-7841-36-7. * Krumgold, Raimond [Раймонд Крумголд]. Экспертиза. In: Prilepin, Zakhar [Захар Прилепин] (ed.). Лимонка в тюрьму. Moscow: Центрполиграф [Centerpoligraf]; 2012. Russian. ISBN 978-5-227-03569-1. * Lavretsky, Helen. The Russian Concept of Schizophrenia: A Review of the Literature. Schizophrenia Bulletin. 1998 [Retrieved 21 April 2011];24(4):537–557. doi:10.1093/oxfordjournals.schbul.a033348. PMID 9853788. * Merskey, Harold. IPPNW: Forum for Soviet Anti-American propaganda?. Canadian Medical Association Journal. 15 October 1988;139(8):699–700. * Merskey, Harold; Shafran, Bronislava. Political hazards in the diagnosis of 'sluggish schizophrenia'. The British Journal of Psychiatry. March 1986;148(3):247–256. doi:10.1192/bjp.148.3.247. PMID 3719218. * Moran, Mark. Psychiatric Abuses Once Led to Cold War Confrontation. Psychiatric News. 5 November 2010;45:6–7. doi:10.1176/pn.45.21.psychnews_45_21_009. * Moseley, Ray. U.S. Group Blasts Soviet Mental Wards. Chicago Tribune. 13 July 1989. * Nuller, Yuri [Юрий Нуллер]. Структура психических расстройств. Kyiv: Сфера; 2008. Russian. ISBN 966-8782-44-5. p. 17–18. See also: Nuller, Yuri [Юрий Нуллер]. О парадигме в психиатрии. The Bekhterev Review of Psychiatry and Medical Psychology. 1991;(№ 4). * Ougrin, Dennis; Gluzman, Semyon; Dratcu, Luiz. Psychiatry in post-communist Ukraine: dismantling the past, paving the way for the future. Psychiatric Bulletin. 30 November 2006;30(12):456–459. doi:10.1192/pb.30.12.456. * Park, Young Su; Park, Sang Min; Jun, Jin Yong; Kim, Seog Ju. Psychiatry in Former Socialist Countries: Implications for North Korean Psychiatry. Psychiatry Investigation. October 2014 [archived 2017-01-30];11(4):363–370. doi:10.4306/pi.2014.11.4.363. PMID 25395966. PMC 4225199. * Pashkovsky, Vladimir [Владимир Пашковский]. О клиническом значении религиозно-архаического бредового комплекса. Социальная и клиническая психиатрия [Social and Clinical Psychiatry]. 2012;22(2):43–48. Russian. * Pavlova, Svetlana; Polyakovskaya, Elena [Светлана Павлова, Елена Поляковская]. Radio Liberty. Дело Косенко: лечение и возмещение; 28 November 2012 [Retrieved 12 December 2012]. Russian. * Plante, Thomas. Abnormal Psychology across the Ages. ABC-CLIO; 2013. ISBN 0313398372. p. 110. * Popov, Yuri. Diagnosis of a "Severe Personality Disorder" as a Cause of Criminal Inresponsibility: V.K. Bukovsky. In: Popov, Yuri (ed.). The Bekhterev Review of Psychiatry and Medical Psychology. Washington, DC: American Psychiatric Press; 1992. ISBN 978-0-88048-667-5. p. 69–73. * Reich, Walter. The world of Soviet psychiatry. The New York Times. 30 January 1983 [Retrieved 1 January 2011]. * Robertson, Michael; Walter, Garry. Ethics and Mental Health: The Patient, Profession and Community. CRC Press; 2013. ISBN 1444168649. p. 84. * Safina, Nailya [Наиля Сафина]. Нет здоровья без душевного здоровья. 23 December 2011 [archived December 5, 2013; Retrieved 21 March 2012]. Russian. * Savenko, Yuri [Юрий Савенко]. Латентные формы антипсихиатрии как главная опасность. Nezavisimiy Psikhiatricheskiy Zhurnal [The Independent Psychiatric Journal]. 2010 [Retrieved 26 February 2014];(4):13–17. Russian. * Savenko, Yuri [Юрий Савенко]. Навстречу МКБ-11. Nezavisimiy Psikhiatricheskiy Zhurnal [The Independent Psychiatric Journal]. 2008 [Retrieved 9 March 2014];(3). * Sfera, Adonis. Can psychiatry be misused again?. Frontiers in Psychiatry. 9 September 2013;(4):101. doi:10.3389/fpsyt.2013.00101. PMID 24058348. * Smulevich, Anatoly. Sluggish schizophrenia in the modern classification of mental illness. Schizophrenia Bulletin. 1989;15(4):533–539. doi:10.1093/schbul/15.4.533. PMID 2696084. * Smulevich, Anatoly [Анатолий Смулевич]. Малопрогредиентная шизофрения и пограничные состояния. Moscow: МЕДпресс-информ [MEDpress-inform]; 2009. Russian. ISBN 5983224891. Глава 1. Клиническое сходство малопрогредиентной шизофрении и пограничных состояний. * Smulevich, Anatoly; Morozov, Pyotr [Анатолий Смулевич, Пётр Морозов]. Психиатрию нельзя выдумать из головы или из учебников. Дневник психиатра [The Psychiatrist's Diary]. 2014 [archived 28 April 2014]:1–4. Russian. * Snezhnevsky, Andrei [Андрей Снежневский]. Письмо Виктору Некрасову от 12 ноября 1971. Дневник психиатра [The Psychiatrist's Diary]. 2014:12–13. Russian. * Stone, Alan. Law, Psychiatry, and Morality: Essays and Analysis. American Psychiatric Pub; 1985. ISBN 0-88048-209-5. p. 8. * Stone, Alan. Psychiatrists on the side of the angels: the Falun Gong and Soviet Jewry. The Journal of the American Academy of Psychiatry and the Law. 2002;30(1):107–111. PMID 11931357. * Styazhkin, Viktor. Diagnosis of a Paranoiac (Delusional) Personality Development in the Forensic Psychiatric Expert Examination. In: Popov, Yuri (ed.). The Bekhterev Review of Psychiatry and Medical Psychology. Washington, DC: American Psychiatric Press; 1992. ISBN 978-0-88048-667-5. p. 65–68. * Tarasov, Alexander [Александр Тарасов]. Психиатрия: контроль над сознанием или тем, что от него осталось. Альманах "Неволя" ["Bondage" Almanac]. 2006 [Retrieved 10 March 2014];(9):154–159. Russian. * Targum, Steven; Chaban, Oleh; Mykhnyak, Serhiy. Psychiatry in the Ukraine. Innovations in Clinical Neuroscience. April 2013;10(4):41–46. PMID 23696959. * Tiganov, Alexandr [Александр Тиганов] (ed.). Руководство по психиатрии [A manual on psychiatry]. Vol. 1. Moscow: Медицина [Medicine]; 1999. Russian. ISBN 5-225-02676-1. * Tobin, John. Editorial: political abuse of psychiatry in authoritarian systems. Irish Journal of Psychological Medicine. June 2013;30(2):97–102. doi:10.1017/ipm.2013.23. * Tyuvina, N.; Balabanova, V. [Н. Тювина, В. Балабанова]. Патокинез эндогенных депрессивно-ипохондрических нарушений непсихотического регистра на фоне терапии сульпиридом. Современная терапия психических расстройств [Modern therapy of mental disorders]. 2012 [archived 2013-07-12];(4):22–26. Russian. * Vasilenko, N.Y. [Н.Ю. Василенко]. Основы социальной медицины. Vladivostok: Издательство Дальневосточного университета [Publishing house of Far Eastern Federal University]; 2004. Russian. * Voren, Robert van. Abuse of psychiatry for political purposes in the USSR: a case-study and personal account of the efforts to bring them to an end. In: Helmchen, Hanfried; Sartorius, Norman (eds.). Ethics in psychiatry: European contributions. Springer Netherlands; 2010a. (International library of ethics, law, and the new medicine. Vol. 45). ISBN 90-481-8720-6. p. 489–507. * Voren, Robert van. Political Abuse of Psychiatry—An Historical Overview. Schizophrenia Bulletin. 2010b;36(1):33–35. doi:10.1093/schbul/sbp119. PMID 19892821. PMC 2800147. * Voren, Robert van [Роберт ван Ворен]. От политических злоупотреблений психиатрией к реформе психиатрической службы. Вестник Ассоциации психиатров Украины [The Herald of the Ukrainian Psychiatric Association]. 2013;(2). Russian. * Wilkinson, Greg. Political dissent and "sluggish" schizophrenia in the Soviet Union. British Medical Journal. 13 September 1986;293(6548):641–642. doi:10.1136/bmj.293.6548.641. PMID 3092963. * Zharikov, Nikolai; Tyulpin, Yuri [Николай Жариков, Юрий Тюльпин]. Психиатрия: Учебник. Moscow: Медицина [Medicine]; 2000. Russian. ISBN 5-225-04189-2. ## Further reading[edit] * Bukovsky, Vladimir. To build a castle: my life as a dissenter. Deutsch; 1978b. English. p. 194–223, 259–272, 355–391. Russian text: Bukovsky, Vladimir [Владимир Буковский]. И возвращается ветер… [And the wind returns…]. New York: Хроника [Khronika]; 1978a. Russian. p. 172–198, 233–244, 314–343. * Ternovsky, Leonard [Леонард Терновский]. Тайна ИГ [The secret of the IG]. Карта: Российский независимый исторический и правозащитный журнал [Karta: Russian Independent Historical and Human Rights Defending Journal]. 1999 [Retrieved 4 February 2014];(№22–23):68–96. Russian. * Lavretsky, Helen. The Russian Concept of Schizophrenia: A Review of the Literature. Schizophrenia Bulletin. 1998;24(4):537–557. doi:10.1093/oxfordjournals.schbul.a033348. PMID 9853788. * Voren, Robert van. On Dissidents and Madness: From the Soviet Union of Leonid Brezhnev to the "Soviet Union" of Vladimir Putin. Amsterdam—New York: Rodopi; 2009. 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[Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Sluggish schizophrenia	None	26,110	wikipedia	https://en.wikipedia.org/wiki/Sluggish_schizophrenia	2021-01-18T19:05:51	{"icd-9": ["295.5"], "wikidata": ["Q1967324"]}
## Clinical Features Garcia-Ortiz et al. (2007) reported a sister and 2 brothers who had neonatal macrosomia, mental retardation, microcephaly, distinctive facial features, large neck, narrow shoulders, prominent trapezoid muscles, polydactyly type A in all extremities, and congenital heart disease consisting of single atrium. Their facial features involved flat nasal bridge, exotropia, palpebral ptosis, short eyelashes, telecanthus, anteverted nostrils, broad nasal fossae, long philtrum, macrostomia, prominent maxilla, dental malocclusion, and micrognathia. Radiologic findings included cuboid-shaped vertebral bodies, hypoplastic pelvis, slender long bones with thin cortices, molding disturbance of metacarpal bones, proximal megaepiphyses of metatarsal bones, hypertrophy of first ray, osteopenia, and delayed and dysharmonic bone age. The unaffected parents were not known to be consanguineous but were born in small villages from the same geographic area. Four other sibs, 1 sister and 3 brothers, were reported to be healthy, without polydactyly or heart defects, and did not resemble the affected sibs facially. INHERITANCE \- Autosomal recessive GROWTH Other \- Macrosomia, neonatal HEAD & NECK Head \- Microcephaly Face \- Micrognathia Eyes \- Exotropia \- Ptosis \- Telecanthus \- Short eyelashes Nose \- Flat nasal bridge \- Anteverted nostrils \- Broad nasal fossae \- Long philtrum Mouth \- Prominent maxilla \- Macrostomia Teeth \- Malocclusion Neck \- Large neck CARDIOVASCULAR Heart \- Single atrium CHEST External Features \- Prominent trapezius muscles Ribs Sternum Clavicles & Scapulae \- Narrow shoulders SKELETAL \- Osteopenia \- Delayed and dysharmonic bone age Spine \- Cuboid-shaped vertebral bodies Pelvis \- Hypoplastic pelvis Limbs \- Slender long bones \- Long bones have thin cortices Hands \- Polydactyly type A \- Molding disturbance of metacarpal bones Feet \- Polydactyly type A \- Proximal megaepiphysis of metatarsal bones \- Hypertrophy of first ray NEUROLOGIC Central Nervous System \- Mental retardation ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	FACIOCARDIOMELIC SYNDROME	c2674798	26,111	omim	https://www.omim.org/entry/612731	2019-09-22T16:00:41	{"mesh": ["C567176"], "omim": ["612731"]}
A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood. ## Epidemiology To date, more than 500 cases of Familial primary hypomagnesemia (FPH) have been described in the literature. ## Clinical description Clinical manifestations include weakness, fatigue, increased neuromuscular excitability (muscle fasciculation, cramps, tremor carpopedal spasms, numbness in the hands and tetany), central nervous system manifestations (lethargy, drowsiness, depression, agitation and generalized seizures), and cardiac manifestations (atrial or ventricular tachycardia, and premature contractions). Chronic hypomagnesemia may be associated with chondrocalcinosis. Hypomagnesemia is frequently accompanied by hypocalcemia and sometimes by hypokalemia. Depending on the renal segment involved, FPH can be associated with hypercalcuria (when the defect of magnesium reabsorption is in the thick ascending limb of Henle's loop) or with hypocalcuria or normocalcuria (when the defect of magnesium reabsorption is in distal convoluted tubule). The severity of the clinical manifestations and the age of onset is variable (depends on the implicated transporter and type of inheritance. Severe and early presentation is observed in primary hypomagnesemia with secondary hypocalcemia (PHSH, recessive inheritance; see this term), while the mild phenotype is observed in older children and adults in dominant diseases. Other hereditary renal diseases are frequently associated with hypomagnesemia such as salt losing tubulopathies: classic Bartter syndrome, Gitelman syndrome, EAST syndrome, renal cysts and diabetes syndrome and autosomal dominant hypocalcemia (see these terms). ## Etiology Renal reabsorption of Mg occurs in the loop of Henle via a passive paracellular transport process implicating claudin-16 and claudin-19 while in the intestine and in the distal convoluted tubule (DCT), reabsorption is achieved by an active process mediated by TRPM6. FPH is caused by mutations in genes encoding key proteins with direct or indirect involvement in active Mg handling, such as CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, HNF1B and TRPM6. ## Diagnostic methods Clinically, Chvostek's (twitching of facial muscles in response to tapping over the area of the facial nerve) and Trousseau's (carpopedal spasm resulting from ischemia) signs can detect hypomagnesemia in a specific and sensitive manner. Diagnosis is also established by simultaneous evaluation of serum Mg and urinary Mg excretion. Presence of hypomagnesemia with adapted urinary Mg excretion (<1mmol/24h or fractional excretion (FE) < 1%) indicates an extra renal origin. Elevated fecal Mg levels indicate an intestinal defect. In contrast, hypomagnesemia with increased urinary Mg excretion (> 2 mmol/24h or FE >2%) indicates a renal origin. In mixed intestinal and renal hypomagnesemia (PHSH), the renal reabsorption defect is only observed after an intravenous magnesium load test. Diagnosis is confirmed by molecular screening of genes involved in FPH. ## Differential diagnosis Differential diagnosis includes isolated Mg malabsorption, hypoparathyroidism and drug toxicity (diuretics, aminoglycosides, proton pump inhibitors, pentamidin, EGF receptor antagonists, calcineurin inhibitors and platin salts). ## Genetic counseling Transmission is autosomal recessive or autosomal dominant. ## Management and treatment Treatment of FPH involves substitution with oral Mg. In cases of intolerance, patients may be treated with intramuscular Mg sulfate. Treatment and doses should be adjusted according to gastrointestinal tolerance and clinical manifestations. Intravenous Mg and calcium therapies may be given during symptomatic attacks. ## Prognosis Prognosis is highly dependent on the rapidity of diagnosis and treatment. Complications or death resulting from untreated convulsions or tetany may be observed in certain forms of FPH. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Genetic primary hypomagnesemia	None	26,112	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34526	2021-01-23T18:45:00	{"gard": ["2906"], "icd-10": ["E83.4"]}
Hemorrhagic gastroenteritis (HGE) is a disease of dogs characterized by sudden vomiting and bloody diarrhea. The symptoms are usually severe, and HGE can be fatal if not treated. HGE is most common in young adult dogs of any breed, but especially small dogs such as the Toy Poodle and Miniature Schnauzer.[1] It is not contagious. ## Contents * 1 Cause * 2 Clinical signs * 3 Diagnosis * 4 Treatment * 5 See also * 6 References ## Cause[edit] The cause is uncertain. Suspected causes include abnormal responses to bacteria or bacterial endotoxin, or a hypersensitivity to food.[2] Pathologically there is an increase in the permeability of the intestinal lining and a leakage of blood and proteins into the bowel. Clostridium perfringens has been found in large numbers in the intestines of many affected dogs.[1] ## Clinical signs[edit] Profuse vomiting is usually the first symptom, followed by depression and bloody diarrhea with a foul odor. Severe hypovolemia (low blood volume) is one of the hallmarks of the disease, and severe hemoconcentration (concentrated blood) is considered necessary for diagnosis. The progression of HGE is so rapid that hypovolemic shock and death can occur within 24 hours.[1] Disseminated intravascular coagulation (DIC) is a possible sequela of HGE. As a result, this disease can cause severe damage. ## Diagnosis[edit] Clinical signs of HGE and canine parvovirus (CPV) are similar enough that they need to be differentiated. It may or may not be detected by a high or low white blood cell count, and there may be a low hematocrit. A negative fecal parvovirus test is sometimes necessary to completely rule out CPV. Other potential causes of vomiting and diarrhea, white foam from the mouth include gastrointestinal parasites, bacterial infections including E. coli, Campylobacter, or Salmonella, protozoal infections such as coccidiosis or giardiasis, and gastrointestinal cancer. ## Treatment[edit] The most important aspect of treatment of HGE is intravenous fluid therapy to replace lost fluid volume. The vomiting and diarrhea are treated symptomatically and will usually resolve after one to two days. Antibiotics targeting C. perfringens are also used but recent studies have shown no difference in outcome or survival rate between patients given antibiotics and those not when no signs of sepsis were present. In other words, if there are no signs of sepsis, antibiotics will not hasten a recovery or improve outcome. With prompt, aggressive treatment, the prognosis is good. There is less than 10 percent mortality with treatment, but 10 to 15 percent of cases will recur.[2] ## See also[edit] * Gastroenteritis ## References[edit] 1. ^ a b c Ettinger, Stephen J.; Feldman, Edward C. (1995). Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 0-7216-6795-3. 2. ^ a b "Hemorrhagic gastroenteritis". The Merck Veterinary Manual. 2006. Retrieved 2007-03-20. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Hemorrhagic gastroenteritis	c1443851	26,113	wikipedia	https://en.wikipedia.org/wiki/Hemorrhagic_gastroenteritis	2021-01-18T18:37:15	{"wikidata": ["Q3758802"]}
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	TELO2-related intellectual disability-neurodevelopmental disorder	c4310778	26,114	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488642	2021-01-23T17:50:11	{"omim": ["616954"], "synonyms": ["You-Hoover-Fong syndrome"]}
For the Krizz Kaliko album, see Vitiligo (album). Vitiligo Non-segmental vitiligo of the hand Pronunciation * /ˌvɪtɪˈlaɪɡoʊ/ SpecialtyDermatology SymptomsPatches of white skin[1] DurationLong term[1] CausesUnknown[1] Risk factorsFamily history, other autoimmune diseases[2] Diagnostic methodTissue biopsy[2] TreatmentSunscreen, makeup, topical corticosteroids, phototherapy[1][2] Frequency1% of people[3] Vitiligo is a long-term skin condition characterized by patches of the skin losing their pigment.[1] The patches of skin affected become white and usually have sharp margins.[1] The hair from the skin may also become white.[1] The inside of the mouth and nose may also be involved.[2] Typically both sides of the body are affected.[1] Often the patches begin on areas of skin that are exposed to the sun.[2] It is more noticeable in people with dark skin.[2] Vitiligo may result in psychological stress and those affected may be stigmatized.[1] The exact cause of vitiligo is unknown.[1] It is believed to be due to genetic susceptibility that is triggered by an environmental factor such that an autoimmune disease occurs.[1][2] This results in the destruction of skin pigment cells.[2] Risk factors include a family history of the condition or other autoimmune diseases, such as hyperthyroidism, alopecia areata, and pernicious anemia.[2] It is not contagious.[4] Vitiligo is classified into two main types: segmental and non-segmental.[1] Most cases are non-segmental, meaning they affect both sides; and in these cases, the affected area of the skin typically expands with time.[1] About 10% of cases are segmental, meaning they mostly involve one side of the body; and in these cases, the affected area of the skin typically does not expand with time.[1] Diagnosis can be confirmed by tissue biopsy.[2] There is no known cure for vitiligo.[1] For those with light skin, sunscreen and makeup are all that is typically recommended.[1] Other treatment options may include steroid creams or phototherapy to darken the light patches.[2] Alternatively, efforts to lighten the unaffected skin, such as with hydroquinone, may be tried.[2] Several surgical options are available for those who do not improve with other measures.[2] A combination of treatments generally has better outcomes.[3] Counselling to provide emotional support may be useful.[1] Globally about 1% of people are affected by vitiligo.[3] In some populations it affects as many as 2–3%.[5] Males and females are equally affected.[1] About half show the disorder before age 20 and most develop it before age 40.[1] Vitiligo has been described since ancient history.[1] ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Immune * 2.2 Autoimmune associations * 3 Diagnosis * 3.1 Classification * 3.1.1 Non-segmental * 3.1.2 Segmental * 3.2 Differential diagnosis * 4 Treatment * 4.1 Immune mediators * 4.2 Phototherapy * 4.3 Skin camouflage * 4.4 De-pigmenting * 5 History * 6 Society and culture * 7 Research * 8 References * 9 External links ## Signs and symptoms[edit] The only sign of vitiligo is the presence of pale patchy areas of depigmented skin which tend to occur on the extremities.[6][7] Some people may experience itching before a new patch occurs.[8] The patches are initially small, but often grow and change shape.[6][9] When skin lesions occur, they are most prominent on the face, hands and wrists.[6][7] The loss of skin pigmentation is particularly noticeable around body orifices, such as the mouth, eyes, nostrils, genitalia and umbilicus.[6][7] Some lesions have increased skin pigment around the edges.[10] Those affected by vitiligo who are stigmatized for their condition may experience depression and similar mood disorders.[11] * Vitiligo on lighter skin * Non-segmental vitiligo on dark skin, hand facing up * Non-segmental vitiligo of the eyelids ## Causes[edit] Although multiple hypotheses have been suggested as potential triggers that cause vitiligo, studies strongly imply that changes in the immune system are responsible for the condition.[1][12] Vitiligo has been proposed to be a multifactorial disease with genetic susceptibility and environmental factors both thought to play a role.[1] The TYR gene encodes the protein tyrosinase, which is not a component of the immune system, but is an enzyme of the melanocyte that catalyzes melanin biosynthesis, and a major autoantigen in generalized vitiligo.[1] The National Institutes of Health states that some believe that sunburns can cause or exacerbate the condition, but that this idea is not well-supported by good evidence.[13] ### Immune[edit] Variations in genes that are part of the immune system or part of melanocytes have both been associated with vitiligo.[1] It is also thought to be caused by the immune system attacking and destroying the melanocytes of the skin.[14] A genome wide association study found approximately 36 independent susceptibility loci for generalized vitiligo.[15] ### Autoimmune associations[edit] Vitiligo is sometimes associated with autoimmune and inflammatory diseases such as Hashimoto's thyroiditis, scleroderma, rheumatoid arthritis, type 1 diabetes mellitus, psoriasis, Addison's disease, pernicious anemia, alopecia areata, systemic lupus erythematosus, and celiac disease.[1][16] Among the inflammatory products of NALP1 are caspase 1 and caspase 7, which activate the inflammatory cytokine interleukin-1β. Interleukin-1β and interleukin-18 are expressed at high levels in people with vitiligo.[17] In one of the mutations, the amino acid leucine in the NALP1 protein was replaced by histidine (Leu155 → His). The original protein and sequence is highly conserved in evolution, and is found in humans, chimpanzee, rhesus monkey, and the bush baby. Addison's disease (typically an autoimmune destruction of the adrenal glands) may also be seen in individuals with vitiligo.[18][19] ## Diagnosis[edit] UV photograph of a hand with vitiligo UV photograph of a foot with vitiligo An ultraviolet light can be used in the early phase of this disease for identification and to determine the effectiveness of treatment.[20] Using a Wood's light, skin will change colour (fluoresce) when it is affected by certain bacteria, fungi, and changes to pigmentation of the skin.[21] ### Classification[edit] Classification attempts to quantify vitiligo have been analyzed as being somewhat inconsistent,[22] while recent consensus have agreed to a system of segmental vitiligo (SV) and non-segmental vitiligo (NSV). NSV is the most common type of vitiligo.[1] #### Non-segmental[edit] In non-segmental vitiligo (NSV), there is usually some form of symmetry in the location of the patches of depigmentation. New patches also appear over time and can be generalized over large portions of the body or localized to a particular area. Extreme cases of vitiligo, to the extent that little pigmented skin remains, are referred to as vitiligo universalis. NSV can come about at any age (unlike segmental vitiligo, which is far more prevalent in teenage years).[10] Classes of non-segmental vitiligo include the following: * Generalized vitiligo: the most common pattern, wide and randomly distributed areas of depigmentation[23] * Universal vitiligo: depigmentation encompasses most of the body[23] * Focal vitiligo: one or a few scattered macules in one area, most common in children[23] * Acrofacial vitiligo: fingers and periorificial areas[23] * Mucosal vitiligo: depigmentation of only the mucous membranes[23] #### Segmental[edit] Segmental vitiligo (SV) differs in appearance, cause, and frequency of associated illnesses. Its treatment is different from that of NSV. It tends to affect areas of skin that are associated with dorsal roots from the spinal cord and is most often unilateral.[1][24] It is much more stable/static in course and its association with autoimmune diseases appears to be weaker than that of generalized vitiligo.[24] SV does not improve with topical therapies or UV light, however surgical treatments such as cellular grafting can be effective.[10] ### Differential diagnosis[edit] Chemical leukoderma is a similar condition due to multiple exposures to chemicals.[25] Vitiligo however is a risk factor.[25] Triggers may include inflammatory skin conditions, burns, intralesional steroid injections and abrasions.[26] Other conditions with similar symptoms include the following: * Pityriasis alba * Tuberculoid leprosy * Postinflammatory hypopigmentation * Tinea versicolor[23] * Halo nevus * Albinism * Piebaldism[23] * Idiopathic guttate hypomelanosis[23] * Progressive macular hypomelanosis[23] * Primary adrenal insufficiency ## Treatment[edit] There is no cure for vitiligo but several treatment options are available.[1] The best evidence is for applied steroids and the combination of ultraviolet light in combination with creams.[27] Due to the higher risks of skin cancer, the United Kingdom's National Health Service suggests phototherapy be used only if primary treatments are ineffective.[28] Lesions located on the hands, feet, and joints are the most difficult to repigment; those on the face are easiest to return to the natural skin color as the skin is thinner in nature.[1] ### Immune mediators[edit] Topical preparations of immune suppressing medications including glucocorticoids (such as 0.05% clobetasol or 0.10% betamethasone) and calcineurin inhibitors (such as tacrolimus or pimecrolimus) are considered to be first-line vitiligo treatments.[1] ### Phototherapy[edit] Phototherapy is considered a second-line treatment for vitiligo.[1] Exposing the skin to light from UVB lamps is the most common treatment for vitiligo. The treatments can be done at home with an UVB lamp or in a clinic. The exposure time is managed so that the skin does not suffer overexposure. Treatment can take a few weeks if the spots are on the neck and face and if they existed not more than 3 years. If the spots are on the hands and legs and have been there for more than 3 years, it can take a few months. Phototherapy sessions are done 2–3 times a week. Spots on a large area of the body may require full body treatment in a clinic or hospital. UVB broadband and narrowband lamps can be used,[29][30] but narrowband ultraviolet picked around 311 nm is the choice. It has been constitutively reported that a combination of UVB phototherapy with other topical treatments improves re-pigmentation. However, some people with vitiligo may not see any changes to skin or re-pigmentation occurring. A serious potential side effect involves the risk of developing skin cancer, the same risk as an overexposure to natural sunlight.[citation needed] Ultraviolet light (UVA) treatments are normally carried out in a hospital clinic. Psoralen and ultraviolet A light (PUVA) treatment involves taking a drug that increases the skin's sensitivity to ultraviolet light, then exposing the skin to high doses of UVA light. Treatment is required twice a week for 6–12 months or longer. Because of the high doses of UVA and psoralen, PUVA may cause side effects such as sunburn-type reactions or skin freckling.[28] Narrowband ultraviolet B (NBUVB) phototherapy lacks the side-effects caused by psoralens and is as effective as PUVA.[1] As with PUVA, treatment is carried out twice weekly in a clinic or every day at home, and there is no need to use psoralen.[28] Longer treatment is often recommended, and at least 6 months may be required for effects to phototherapy.[31] NBUVB phototherapy appears better than PUVA therapy with the most effective response on the face and neck.[31] With respect to improved repigmentation: topical calcineurin inhibitors plus phototherapy are better than phototherapy alone,[32] hydrocortisone plus laser light is better than laser light alone, gingko biloba is better than placebo, and oral mini-pulse of prednisolone (OMP) plus NB-UVB is better than OMP alone.[8] ### Skin camouflage[edit] In mild cases, vitiligo patches can be hidden with makeup or other cosmetic camouflage solutions. If the affected person is pale-skinned, the patches can be made less visible by avoiding tanning of unaffected skin.[23] ### De-pigmenting[edit] In cases of extensive vitiligo the option to de-pigment the unaffected skin with topical drugs like monobenzone, mequinol, or hydroquinone may be considered to render the skin an even color. The removal of all the skin pigment with monobenzone is permanent and vigorous. Sun-safety must be adhered to for life to avoid severe sunburn and melanomas. Depigmentation takes about a year to complete.[28] ## History[edit] Descriptions of a disease believed to be vitiligo date back to a passage in the medical text Ebers Papyrus c. 1500 BCE in ancient Egypt. Mentions of whitening of the skin were also present circa 1400 BCE in sacred Indian texts such as Atharvaveda as well as Shinto prayers in East Asia c. 1200 BCE. The Hebrew word "Tzaraath" from the Old Testament book of Leviticus[33] dating to 1280 BCE[34] (or 1312 BCE[35]) described a group of skin diseases associated with white spots, and a subsequent translation to Greek led to continued conflation of those with vitiligo with leprosy and spiritual uncleanliness.[33] Medical sources in the ancient world such as Hippocrates often did not differentiate between vitiligo and leprosy, often grouping these diseases together. In Arabic literature, the word "alabras" has been associated with vitiligo, with this word found in the Quran. The name "vitiligo" was first used by the Roman physician Aulus Cornelius Celsus in his classic medical text De Medicina.[33] The etymology of the term "vitiligo" is believed to be derived from "vitium", meaning "defect" or "blemish".[33] ## Society and culture[edit] The change in appearance caused by vitiligo can affect a person's emotional and psychological well-being and may create difficulty in becoming or remaining employed, particularly if vitiligo develops on visible areas of the body, such as the face, hands, or arms. Participating in a vitiligo support group may improve social coping skills and emotional resilience.[36] Notable cases include that of American pop singer Michael Jackson[37] and Canadian fashion model Winnie Harlow.[38] In 2020, a hoax tweet of a black woman with vitiligo was captioned as a White American turning black, claiming this was as a result of Pfizer's Covid-19 vaccine being part of a conspiracy to conduct White genocide. This was among many anti-vaccination conspiracy posts that have emerged during the COVID-19 pandemic.[39][dead link] ## Research[edit] Afamelanotide is in phase II and III clinical trials for vitiligo and other skin diseases.[40] A medication for rheumatoid arthritis, tofacitinib, has been tested for the treatment of vitiligo.[41] In October 1992, a scientific report was published of successfully transplanting melanocytes to vitiligo affected areas, effectively re-pigmenting the region.[42] The procedure involved taking a thin layer of pigmented skin from the person's gluteal region. Melanocytes were then separated out to a cellular suspension that was expanded in culture. The area to be treated was then denuded with a dermabrader and the melanocytes graft applied. Between 70 and 85 percent of people with vitiligo experienced nearly complete repigmentation of their skin. The longevity of the repigmentation differed from person to person.[43] ## References[edit] 1. ^ 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 Ezzedine, K; Eleftheriadou, V; Whitton, M; van Geel, N (4 July 2015). "Vitiligo". Lancet. 386 (9988): 74–84. doi:10.1016/s0140-6736(14)60763-7. PMID 25596811. S2CID 208791128. 2. ^ a b c d e f g h i j k l m "Questions and Answers about Vitiligo". NIAMS. June 2014. Archived from the original on 21 August 2016. Retrieved 11 August 2016. 3. ^ a b c Whitton, M; Pinart, M; Batchelor, JM; et al. (May 2016). "Evidence-based management of vitiligo: summary of a Cochrane systematic review". The British Journal of Dermatology. 174 (5): 962–69. doi:10.1111/bjd.14356. PMID 26686510. S2CID 38560830. 4. ^ Chopra, Parul; Niyogi, Rageshree; Katyal, Gauri (2009). Skin and Hair Care: Your Questions Answered. Byword Books Private Limited. p. 2. ISBN 978-8181930378. Archived from the original on 23 March 2017. 5. ^ Krüger C; Schallreuter KU (October 2012). "A review of the worldwide prevalence of vitiligo in children/adolescents and adults". Int J Dermatol. 51 (10): 1206–12. arXiv:0706.4406. doi:10.1111/j.1365-4632.2011.05377.x. PMID 22458952. S2CID 5084045. 6. ^ a b c d National Institute of Arthritis and Musculoskeletal and Skin Diseases (March 2007). "What Is Vitiligo? Fast Facts: An Easy-to-Read Series of Publications for the Public Additional". Archived from the original on 15 July 2010. Retrieved 18 July 2010. 7. ^ a b c Halder RM (2007). "72. Vitiligo". In Wolff K, Freedberg IM, Fitzpatrick TB (eds.). Fitzpatrick's dermatology in general medicine (7th ed.). New York: McGraw-Hill Professional. ISBN 978-0-07-146690-5. OCLC 154751587. 8. ^ a b Whitton, ME; Pinart, M; Batchelor, J; Leonardi-Bee, J; González, U; Jiyad, Z; Eleftheriadou, V; Ezzedine, K (24 February 2015). "Interventions for vitiligo". The Cochrane Database of Systematic Reviews (2): CD003263. doi:10.1002/14651858.CD003263.pub5. PMID 25710794. 9. ^ Halder, RM; Chappell, JL (2009). "Vitiligo update". Seminars in Cutaneous Medicine and Surgery. 28 (2): 86–92. doi:10.1016/j.sder.2009.04.008. PMID 19608058. 10. ^ a b c Huggins RH, Schwartz RA, Janniger CK (2005). "Vitiligo" (PDF). Acta Dermatovenerologica Alpina, Pannonica et Adriatica. 14 (4): 137–42, 144–45. PMID 16435042. Archived (PDF) from the original on 10 December 2006. 11. ^ Picardi A, Pasquini P, Cattaruzza MS, et al. (2003). "Stressful life events, social support, attachment security and alexithymia in vitiligo. A case-control study". Psychotherapy and Psychosomatics. 72 (3): 150–58. doi:10.1159/000069731. PMID 12707482. S2CID 22105282. 12. ^ Ongenae, Katia; Van Geel, Nanny; Naeyaert, Jean-Marie (April 2003). "Evidence for an Autoimmune Pathogenesis of Vitiligo". Pigment Cell Research. 16 (2): 90–100. doi:10.1034/j.1600-0749.2003.00023.x. PMID 12622785. 13. ^ "Questions and Answers about Vitiligo". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 30 October 2016. Retrieved 22 July 2018. 14. ^ Staff, Mayo Clinic (15 May 2014). "Vitiligo Causes". Mayoclinic. Archived from the original on 30 April 2015. Retrieved 22 April 2015. 15. ^ Spritz, Richard A. (May 2013). "Modern vitiligo genetics sheds new light on an ancient disease". The Journal of Dermatology. 40 (5): 310–18. doi:10.1111/1346-8138.12147. PMC 3783942. PMID 23668538. 16. ^ Van Driessche F, Silverberg N (2015). "Current Management of Pediatric Vitiligo". Paediatr Drugs (Review). 17 (4): 303–13. doi:10.1007/s40272-015-0135-3. PMID 26022363. S2CID 20038695. 17. ^ Lamkanfi M, Vande Walle L, Kanneganti TD (2011). "Deregulated inflammasome signaling in disease". Immunol Rev (Review). 243 (1): 163–73. doi:10.1111/j.1600-065X.2011.01042.x. PMC 3170132. PMID 21884175. 18. ^ Gregersen PK (2007). "Modern genetics, ancient defenses, and potential therapies". The New England Journal of Medicine. 356 (12): 1263–66. doi:10.1056/NEJMe078017. PMID 17377166. 19. ^ Jin Y, Mailloux CM, Gowan K, et al. (2007). "NALP1 in vitiligo-associated multiple autoimmune disease" (PDF). The New England Journal of Medicine. 356 (12): 1216–25. doi:10.1056/NEJMoa061592. PMID 17377159. 20. ^ Wang, Yen-Jen; Chang, Chang-Cheng; Cheng, Kun-Lin (December 2017). "Wood's lamp for vitiligo disease stability and early recognition of initiative pigmentation after epidermal grafting". International Wound Journal. 14 (6): 1391–94. doi:10.1111/iwj.12800. PMID 28799192. S2CID 205222684. 21. ^ Al Aboud, Daifallah M.; Gossman, William (2019). "Woods Light (Woods Lamp)". StatPearls. StatPearls Publishing. PMID 30725878. 22. ^ Picardo, Mauro; Taïeb, Alain, eds. (2009). "Introduction". Vitiligo. Berlin: Springer. ISBN 978-3-540-69360-4. 23. ^ a b c d e f g h i j Halder, R. M.; et al. (2007). "Vitiligo". In Wolff, K.; et al. (eds.). Fitzpatrick's Dermatology in General Medicine (7th ed.). New York: McGraw-Hill Professional. ISBN 978-0-07-146690-5. 24. ^ a b van Geel N, Mollet I, Brochez L, et al. (February 2012). "New insights in segmental vitiligo: case report and review of theories". British Journal of Dermatology. 166 (2): 240–46. doi:10.1111/j.1365-2133.2011.10650.x. PMID 21936857. S2CID 32746282. 25. ^ a b James, William Daniel; Berger, Timothy G.; Elston, Dirk M. (2015). "Disturbances of Pigmentation". Andrews' Diseases of the Skin: Clinical Dermatology. Elsevier. ISBN 978-0323319676. 26. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 864. ISBN 978-0-7216-2921-6. 27. ^ Whitton, ME; Ashcroft, DM; González, U (October 2008). "Therapeutic interventions for vitiligo". Journal of the American Academy of Dermatology. 59 (4): 713–17. doi:10.1016/j.jaad.2008.06.023. PMID 18793940. 28. ^ a b c d Anon. "Vitiligo -Treatment". Patient UK. NHS. Archived from the original on 6 June 2013. Retrieved 3 June 2013. 29. ^ Scherschun, L; Kim, JJ; Lim, HW (2001). "Narrow-band ultraviolet B is a useful and well-tolerated treatment for vitiligo". Journal of the American Academy of Dermatology. 44 (6): 999–1003. doi:10.1067/mjd.2001.114752. PMID 11369913. S2CID 17431219. 30. ^ Don, Philip; Iuga, Aurel; Dacko, Anne; Hardick, Kathleen (2006). "Treatment of vitiligo with broadband ultraviolet B and vitamins". International Journal of Dermatology. 45 (1): 63–65. doi:10.1111/j.1365-4632.2005.02447.x. PMID 16426381. S2CID 454415. 31. ^ a b Bae, Jung Min; Jung, Han Mi; Hong, Bo Young; Lee, Joo Hee; Choi, Won Joon; Lee, Ji Hae; Kim, Gyong Moon (1 July 2017). "Phototherapy for Vitiligo: A Systematic Review and Meta-analysis". JAMA Dermatology. 153 (7): 666–74. doi:10.1001/jamadermatol.2017.0002. ISSN 2168-6068. PMC 5817459. PMID 28355423. 32. ^ Bae, Jung Min; Hong, Bo Young; Lee, Joo Hee; Lee, Ji Hae; Kim, Gyong Moon (May 2016). "The efficacy of 308-nm excimer laser/light (EL) and topical agent combination therapy versus EL monotherapy for vitiligo: A systematic review and meta-analysis of randomized controlled trials (RCTs)". Journal of the American Academy of Dermatology. 74 (5): 907–15. doi:10.1016/j.jaad.2015.11.044. PMID 26785803. 33. ^ a b c d Gauthier, Yvon; Benzekri, Laila (2009). "Historical Aspects". In Picardo, Mauro; Taïeb, Alain (eds.). Vitiligo (Online-Ausg. ed.). Berlin: Springer. ISBN 978-3-540-69360-4. 34. ^ Kurzweil, Arthur (2008). The Torah For Dummies (PDF). For Dummies. p. 11. ISBN 978-0-470-28306-6. Retrieved 19 August 2010. 35. ^ History Crash Course #36: Timeline: From Abraham to Destruction of the Temple Archived 20 July 2014 at the Wayback Machine, by Rabbi Ken Spiro, Aish.com. Retrieved 2010-08-19. 36. ^ Chaturvedi, SK; Singh, G; Gupta, N (October 2005). "Stigma experience in skin disorders: an Indian perspective". Dermatologic Clinics. 23 (4): 635–42. doi:10.1016/j.det.2005.05.007. PMID 16112439. 37. ^ Vogel, Joseph (17 March 2018). "Black and White: how Dangerous kicked off Michael Jackson's race paradox". The Guardian. Retrieved 14 September 2019. 38. ^ "Winnie Harlow: Canadian Model With Rare Skin Condition Lands 2 Major Campaigns". Complex. Retrieved 17 February 2020. 39. ^ https://i.redd.it/wji6d0o9bl061.jpg 40. ^ Fabrikant J; et al. (July 2013). "A review and update on melanocyte stimulating hormone therapy: afamelanotide". J Drugs Dermatol. 12 (7): 775–79. PMID 23884489. 41. ^ "For vitiligo patient, arthritis drug restores skin color". 24 June 2015. Archived from the original on 22 July 2015. 42. ^ Olsson MJ, Juhlin L (1992). "Melanocyte transplantation in vitiligo". Lancet. 340 (8825): 981. doi:10.1016/0140-6736(92)92875-G. PMID 1357390. S2CID 19599682. 43. ^ Olsson MJ, Juhlin L (2002). "Long-term follow-up of leucoderma patients treated with transplants of autologous cultured melanocytes, ultrathin epidermal sheets and basal cell layer suspension". The British Journal of Dermatology. 147 (5): 893–904. doi:10.1046/j.1365-2133.2002.04837.x. PMID 12410698. S2CID 42396825. ## External links[edit] Wikimedia Commons has media related to Vitiligo. * Vitiligo at Curlie * Questions and Answers about Vitiligo – US National Institute of Arthritis and Musculoskeletal and Skin Diseases Classification D * ICD-10: L80 * ICD-9-CM: 709.01 * OMIM: 193200 * MeSH: D014820 * DiseasesDB: 13965 * SNOMED CT: 56727007 External resources * MedlinePlus: 000831 * eMedicine: derm/453 * Patient UK: Vitiligo * v * t * e Diseases of the skin and appendages by morphology Growths Epidermal * Wart * Callus * Seborrheic keratosis * Acrochordon * Molluscum contagiosum * Actinic keratosis * Squamous-cell carcinoma * Basal-cell carcinoma * Merkel-cell carcinoma * Nevus sebaceous * Trichoepithelioma Pigmented * Freckles * Lentigo * Melasma * Nevus * Melanoma Dermal and subcutaneous * Epidermal inclusion cyst * Hemangioma * Dermatofibroma (benign fibrous histiocytoma) * Keloid * Lipoma * Neurofibroma * Xanthoma * Kaposi's sarcoma * Infantile digital fibromatosis * Granular 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Necrobiosis lipoidica Miscellaneous disorders Ulcers * Hair * Telogen effluvium * Androgenic alopecia * Alopecia areata * Systemic lupus erythematosus * Tinea capitis * Loose anagen syndrome * Lichen planopilaris * Folliculitis decalvans * Acne keloidalis nuchae Nail * Onychomycosis * Psoriasis * Paronychia * Ingrown nail Mucous membrane * Aphthous stomatitis * Oral candidiasis * Lichen planus * Leukoplakia * Pemphigus vulgaris * Mucous membrane pemphigoid * Cicatricial pemphigoid * Herpesvirus * Coxsackievirus * Syphilis * Systemic histoplasmosis * Squamous-cell carcinoma * v * t * e Pigmentation disorders/Dyschromia Hypo-/ leucism Loss of melanocytes Vitiligo * Quadrichrome vitiligo * Vitiligo ponctué Syndromic * Alezzandrini syndrome * Vogt–Koyanagi–Harada syndrome Melanocyte development * Piebaldism * Waardenburg syndrome * Tietz syndrome Loss of melanin/ amelanism Albinism * Oculocutaneous albinism * Ocular albinism Melanosome transfer * Hermansky–Pudlak syndrome * Chédiak–Higashi syndrome * Griscelli syndrome * Elejalde syndrome * Griscelli syndrome type 2 * Griscelli syndrome type 3 Other * Cross syndrome * ABCD syndrome * Albinism–deafness syndrome * Idiopathic guttate hypomelanosis * Phylloid hypomelanosis * Progressive macular hypomelanosis Leukoderma w/o hypomelanosis * Vasospastic macule * Woronoff's ring * Nevus anemicus Ungrouped * Nevus depigmentosus * Postinflammatory hypopigmentation * Pityriasis alba * Vagabond's leukomelanoderma * Yemenite deaf-blind hypopigmentation syndrome * Wende–Bauckus syndrome Hyper- Melanin/ Melanosis/ Melanism Reticulated * Dermatopathia pigmentosa reticularis * Pigmentatio reticularis faciei et colli * Reticulate acropigmentation of Kitamura * Reticular pigmented anomaly of the flexures * Naegeli–Franceschetti–Jadassohn syndrome * Dyskeratosis congenita * X-linked reticulate pigmentary disorder * Galli–Galli disease * Revesz syndrome Diffuse/ circumscribed * Lentigo/Lentiginosis: Lentigo simplex * Liver spot * Centrofacial lentiginosis * Generalized lentiginosis * Inherited patterned lentiginosis in black persons * Ink spot lentigo * Lentigo maligna * Mucosal lentigines * Partial unilateral lentiginosis * PUVA lentigines * Melasma * Erythema dyschromicum perstans * Lichen planus pigmentosus * Café au lait spot * Poikiloderma (Poikiloderma of Civatte * Poikiloderma vasculare atrophicans) * Riehl melanosis Linear * Incontinentia pigmenti * Scratch dermatitis * Shiitake mushroom dermatitis Other/ ungrouped * Acanthosis nigricans * Freckle * Familial progressive hyperpigmentation * Pallister–Killian syndrome * Periorbital hyperpigmentation * Photoleukomelanodermatitis of Kobori * Postinflammatory hyperpigmentation * Transient neonatal pustular melanosis Other pigments Iron * Hemochromatosis * Iron metallic discoloration * Pigmented purpuric dermatosis * Schamberg disease * Majocchi's disease * Gougerot–Blum syndrome * Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis * Lichen aureus * Angioma serpiginosum * Hemosiderin hyperpigmentation Other metals * Argyria * Chrysiasis * Arsenic poisoning * Lead poisoning * Titanium metallic discoloration Other * Carotenosis * Tar melanosis Dyschromia * Dyschromatosis symmetrica hereditaria * Dyschromatosis universalis hereditaria See also * Skin color * Skin whitening * Tanning * Sunless * Tattoo * removal * Depigmentation [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Vitiligo	c3277701	26,115	wikipedia	https://en.wikipedia.org/wiki/Vitiligo	2021-01-18T19:01:17	{"gard": ["10751"], "mesh": ["D014820"], "umls": ["C3277701"], "orphanet": ["247871"], "wikidata": ["Q180152"]}
The consumption of grapes and raisins presents a potential health threat to dogs. Their toxicity to dogs can cause the animal to develop acute kidney injury (the sudden development of kidney failure) with anuria (a lack of urine production). The phenomenon was first identified by the Animal Poison Control Center (APCC), run by the American Society for the Prevention of Cruelty to Animals (ASPCA). Approximately 140 cases were seen by the APCC in the one year from April 2003 to April 2004, with 50 developing symptoms and seven dying.[1] It is not clear that the observed cases of kidney failure following ingestion are due to grapes only. Clinical findings suggest raisin and grape ingestion can be fatal, but the mechanism of toxicity is still considered unknown.[2] ## Contents * 1 Cause and pathology * 2 Clinical signs and diagnosis * 3 Treatment * 4 References ## Cause and pathology[edit] The reason some dogs develop kidney failure following ingestion of grapes and raisins is not known.[3] Types of grapes involved include both seedless and seeded, store-bought and homegrown, and grape pressings from wineries.[4] A mycotoxin is suspected to be involved, but none has been found in grapes or raisins ingested by affected dogs.[5] The dose-response relationship has not been determined,[2] but one study estimated ≥3 g/kg for grapes or raisins.[6] The most common pathological finding is proximal renal tubular necrosis.[7] In some cases, an accumulation of an unidentified golden-brown pigment was found within renal epithelial cells.[6] ## Clinical signs and diagnosis[edit] Vomiting and diarrhea are often the first clinical signs of grape or raisin toxicity. They often develop within a few hours of ingestion. Pieces of grapes or raisins may be present in the vomitus or stool. Further symptoms include weakness, not eating, increased drinking, and abdominal pain. Acute kidney failure develops within 48 hours of ingestion.[5] A blood test may reveal increases in blood urea nitrogen (BUN), creatinine, phosphorus, and calcium. ## Treatment[edit] Emesis (induction of vomiting) is the generally recommended treatment if a dog has eaten grapes or raisins within the past two hours. A veterinarian may use an emetic such as apomorphine to cause the dog to vomit. Further treatment may involve the use of activated charcoal to adsorb remaining toxins in the gastrointestinal tract and intravenous fluid therapy in the first 48 hours following ingestion to induce diuresis and help to prevent acute kidney failure.[8] Vomiting is treated with antiemetics and the stomach is protected from uremic gastritis (damage to the stomach from increased BUN) with H2 receptor antagonists. BUN, creatinine, calcium, phosphorus, sodium, and potassium levels are closely monitored. Dialysis of the blood (hemodialysis) and peritoneal dialysis can be used to support the kidneys if anuria develops. Oliguria (decreased urine production) can be treated with dopamine or furosemide to stimulate urine production.[2] The prognosis is guarded in any dog developing symptoms of toxicosis. A negative prognosis has been associated with oliguria or anuria, weakness, difficulty walking, and severe hypercalcemia (increased blood calcium levels).[7] ## References[edit] 1. ^ "ASPCA Animal Poison Control Center Issues Nationwide Update: Raisins and Grapes Can Be Toxic To Dogs". ASPCA. July 6, 2004. Archived from the original on April 7, 2007. Retrieved February 13, 2007. 2. ^ a b c "Food Hazards: Raisins/grapes". The Merck Veterinary Manual. 2006. Retrieved February 13, 2007. 3. ^ "Grape and Raisin Toxicity in Dogs \| VCA Animal Hospitals". Retrieved 11 December 2015. 4. ^ McKnight, Katrina (February 2005). "Grape and Raisin Toxicity in Dogs" (PDF). Veterinary Technician: 135–136. Archived from the original (PDF) on December 6, 2006. Retrieved February 13, 2007. 5. ^ a b Mazzaferro, Elisa M. (2006-01-11). "Doc, What did He Get Into? Emergency Approach to Toxins". Proceedings of the North American Veterinary Conference. Retrieved 2016-06-30. (Requires registration.) 6. ^ a b Morrow, C. M. K.; Valli, V. E.; Volmer, P. A.; Eubig, P. A. (2005). "Canine Renal Pathology Associated with Grape or Raisin Ingestion: 10 Cases". Journal of Veterinary Diagnostic Investigation. 17 (3): 223–31. doi:10.1177/104063870501700302. PMID 15945377. 7. ^ a b Eubig P, Brady M, Gwaltney-Brant S, Khan S, Mazzaferro E, Morrow C (2005). "Acute renal failure in dogs after the ingestion of grapes or raisins: a retrospective evaluation of 43 dogs (1992–2002)". Journal of Veterinary Internal Medicine. 19 (5): 663–74. doi:10.1892/0891-6640(2005)19[663:ARFIDA]2.0.CO;2. PMID 16231710. 8. ^ "News and Views". Veterinary Forum. Veterinary Learning Systems. 23 (1): 12. January 2006. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Grape and raisin toxicity in dogs	None	26,116	wikipedia	https://en.wikipedia.org/wiki/Grape_and_raisin_toxicity_in_dogs	2021-01-18T19:08:20	{"wikidata": ["Q571586"]}
May–Hegglin anomaly Other namesDöhle leukocyte inclusions with giant platelets and Macrothrombocytopenia with leukocyte inclusions[1] SpecialtyHematology May–Hegglin anomaly (MHA), is a rare genetic disorder of the blood platelets that causes them to be abnormally large. ## Contents * 1 Presentation * 2 Pathogenesis * 3 Diagnosis * 4 Treatment * 5 History * 6 References * 7 External links ## Presentation[edit] In the leukocytes, the presence of very small rods (around 3 micrometers), or Döhle-like bodies can be seen in the cytoplasm.[citation needed] ## Pathogenesis[edit] MHA is believed to be associated with the MYH9 gene.[2] The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract.[2] MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).[3] ## Diagnosis[edit] This section is empty. You can help by adding to it. (July 2018) ## Treatment[edit] May-Hegglins Anomaly can be treated by various methods:[citation needed] * Medication;Tranexamic Acid * Desmopressin Acetate * Platelet Transfusion will not work, because the affected platelets will overtake the new platelets. ## History[edit] MHA is named for German physician Richard May (January 7, 1863 – 1936) and Swiss physician Robert Hegglin.[4][5][6] The disorder was first described by Richard May in 1909 and was subsequently described by Robert Hegglin in 1945. ## References[edit] 1. ^ Online Mendelian Inheritance in Man (OMIM): 155100 2. ^ a b Saito, H.; Kunishima, S. (Apr 2008). "Historical hematology: May-Hegglin anomaly". American Journal of Hematology. 83 (4): 304–306. doi:10.1002/ajh.21102. ISSN 0361-8609. PMID 17975807. S2CID 34743130. 3. ^ Noris P et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. Am J Med 1998;104(4):355-60 4. ^ synd/113 at Who Named It? 5. ^ R. May. Leukocyteneinschlüsse. Kasuistische Mitteilung. Deutsches Archiv für klinische Medizin, Leipzig, 1909, 96: 1-6. 6. ^ R. Hegglin. Über eine neue Form einer konstitutionellen Leukozytenanomalie, kombiniert mit Throbopathie. Schweizerische medizinische Wochenschrift, Basel, 1945, 75: 91-92. ## External links[edit] Classification D * ICD-10: D72.0 * ICD-9-CM: 288.2 * OMIM: 155100 * DiseasesDB: 29517 * SNOMED CT: 250279001 External resources * eMedicine: ped/1383 * v * t * e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause * Clotting factors * Antithrombin III deficiency * Protein C deficiency * Activated protein C resistance * Protein S deficiency * Factor V Leiden * Prothrombin G20210A * Platelets * Sticky platelet syndrome * Thrombocytosis * Essential thrombocythaemia * DIC * Purpura fulminans * Antiphospholipid syndrome Clots * Thrombophilia * Thrombus * Thrombosis * Virchow's triad * Trousseau sign of malignancy By site * Deep vein thrombosis * Bancroft's sign * Homans sign * Lisker's sign * Louvel's sign * Lowenberg's sign * Peabody's sign * Pratt's sign * Rose's sign * Pulmonary embolism * Renal vein thrombosis Bleeding By cause Thrombocytopenia * Thrombocytopenic purpura: ITP * Evans syndrome * TM * TTP * Upshaw–Schulman syndrome * Heparin-induced thrombocytopenia * May–Hegglin anomaly Platelet function * adhesion * Bernard–Soulier syndrome * aggregation * Glanzmann's thrombasthenia * platelet storage pool deficiency * Hermansky–Pudlak syndrome * Gray platelet syndrome Clotting factor * Haemophilia * A/VIII * B/IX * C/XI * von Willebrand disease * Hypoprothrombinemia/II * Factor VII deficiency * Factor X deficiency * Factor XII deficiency * Factor XIII deficiency * Dysfibrinogenemia * Congenital afibrinogenemia Signs and symptoms * Bleeding * Bruise * Haematoma * Petechia * Purpura * Nonthrombocytopenic purpura By site * head * Epistaxis * Haemoptysis * Intracranial haemorrhage * Hyphaema * Subconjunctival haemorrhage * torso * Haemothorax * Haemopericardium * Pulmonary haematoma * abdomen * Gastrointestinal bleeding * Haemobilia * Haemoperitoneum * Haematocele * Haematosalpinx * joint * Haemarthrosis * v * t * e Cytoskeletal defects Microfilaments Myofilament Actin * Hypertrophic cardiomyopathy 11 * Dilated cardiomyopathy 1AA * DFNA20 * Nemaline myopathy 3 Myosin * Elejalde syndrome * Hypertrophic cardiomyopathy 1, 8, 10 * Usher syndrome 1B * Freeman–Sheldon syndrome * DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 * May–Hegglin anomaly Troponin * Hypertrophic cardiomyopathy 7, 2 * Nemaline myopathy 4, 5 Tropomyosin * Hypertrophic cardiomyopathy 3 * Nemaline myopathy 1 Titin * Hypertrophic cardiomyopathy 9 Other * Fibrillin * Marfan syndrome * Weill–Marchesani syndrome * Filamin * FG syndrome 2 * Boomerang dysplasia * Larsen syndrome * Terminal osseous dysplasia with pigmentary defects IF 1/2 * Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 * Striate palmoplantar keratoderma 3 * Epidermolytic hyperkeratosis * IHCM * KRT2E (Ichthyosis bullosa of Siemens) * KRT3 (Meesmann juvenile epithelial corneal dystrophy) * KRT4 (White sponge nevus) * KRT5 (Epidermolysis bullosa simplex) * KRT8 (Familial cirrhosis) * KRT10 (Epidermolytic hyperkeratosis) * KRT12 (Meesmann juvenile epithelial corneal dystrophy) * KRT13 (White sponge nevus) * KRT14 (Epidermolysis bullosa simplex) * KRT17 (Steatocystoma multiplex) * KRT18 (Familial cirrhosis) * KRT81/KRT83/KRT86 (Monilethrix) * Naegeli–Franceschetti–Jadassohn syndrome * Reticular pigmented anomaly of the flexures 3 * Desmin: Desmin-related myofibrillar myopathy * Dilated cardiomyopathy 1I * GFAP: Alexander disease * Peripherin: Amyotrophic lateral sclerosis 4 * Neurofilament: Parkinson's disease * Charcot–Marie–Tooth disease 1F, 2E * Amyotrophic lateral sclerosis 5 * Laminopathy: LMNA * Mandibuloacral dysplasia * Dunnigan Familial partial lipodystrophy * Emery–Dreifuss muscular dystrophy 2 * Limb-girdle muscular dystrophy 1B * Charcot–Marie–Tooth disease 2B1 * LMNB * Barraquer–Simons syndrome * LEMD3 * Buschke–Ollendorff syndrome * Osteopoikilosis * LBR * Pelger–Huet anomaly * Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin * Charcot–Marie–Tooth disease 2A * Hereditary spastic paraplegia 10 Dynein * Primary ciliary dyskinesia * Short rib-polydactyly syndrome 3 * Asphyxiating thoracic dysplasia 3 Other * Tauopathy * Cavernous venous malformation Membrane * Spectrin: Spinocerebellar ataxia 5 * Hereditary spherocytosis 2, 3 * Hereditary elliptocytosis 2, 3 Ankyrin: Long QT syndrome 4 * Hereditary spherocytosis 1 Catenin * APC * Gardner's syndrome * Familial adenomatous polyposis * plakoglobin (Naxos syndrome) * GAN (Giant axonal neuropathy) Other * desmoplakin: Striate palmoplantar keratoderma 2 * Carvajal syndrome * Arrhythmogenic right ventricular dysplasia 8 * plectin: Epidermolysis bullosa simplex with muscular dystrophy * Epidermolysis bullosa simplex of Ogna * plakophilin: Skin fragility syndrome * Arrhythmogenic right ventricular dysplasia 9 * centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II) Related topics: Cytoskeletal proteins [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	May–Hegglin anomaly	c0340978	26,117	wikipedia	https://en.wikipedia.org/wiki/May%E2%80%93Hegglin_anomaly	2021-01-18T18:30:00	{"omim": ["155100"], "icd-9": ["288.2"], "icd-10": ["D72.0"], "orphanet": ["850"], "synonyms": ["MHA", "May-Hegglin anomaly", "May-Hegglin syndrome"], "wikidata": ["Q1914356"]}
Spectrum of disorders Ocular neuropathic pain Other namesCorneal neuralgia, keratoneuralgia, burning eye syndrome, neuropathic dry eye SpecialtyOphthalmology Ocular neuropathic pain is a spectrum of disorders of ocular pain which are caused by damage or disease affecting the nerves. Ocular neuropathic pain is frequently associated with damaged or dysfunctional corneal nerves,[1] but the condition can also be caused by peripheral or centralized sensitization.[2] The condition shares some characteristics with somatic neuropathic pain[2] in that it is similarly associated with abnormal sensations (dysesthesia) or pain from normally non-painful stimuli (allodynia), but until recent years has been poorly understood by the medical community, and frequently dismissed by ophthalmologists who were not trained to identify neuropathic pain as a source of unexplained eye pain beyond objective findings noted on slit-lamp examination.[1] This condition is frequently associated with dry eye disease since sensations of dryness and burning in the eye are a common symptom of both neuropathic eye pain and dry eye, but ocular neuropathic pain should be considered as a disease in its own right.[2] Neuropathic pain patients may have little or no signs of aqueous dry eye, and frequently respond poorly to conventional dry eye treatments.[3] Unlike conventional dry eye disease, there may be little or no sign of ocular surface damage, (the condition is sometimes referred to as "pain without stain"[3]), however patients may also have symptoms of dry eye but with pain symptoms that are out of proportion to the dry eye presentation.[1] The experience of painful sensations in this condition can vary widely, reflecting a variety of causal factors such as: types of noxious stimuli causing insult to ocular surface nociceptors, the types of corneal sensory receptors affected, (including cold-sensing thermoreceptors, mechanoreceptors, and polymodal receptors), the extent of the inflammatory responses, and the type or types of disorders and damage affecting the nervous system.[4] ## Contents * 1 Signs and symptoms * 1.1 Comorbid conditions * 2 Causes * 2.1 Corneal sensitization and evaporative hyperalgesia * 2.2 Peripheral injuries and central sensitization * 3 Treatments * 4 References ## Signs and symptoms[edit] Symptoms of ocular neuropathic pain can range from devastating, unrelenting eye pain and severe sensitivity to light (photophobia) in the worst cases, to mild hyperalgesia or dysesthesia such as a sensation of dryness, stinging, or foreign body in milder cases. Mild neuropathic pain symptoms can appear similar to clinical symptoms of aqueous dry eye which can impede proper diagnosis. Sensations and levels of pain can vary depending on the source or sources of the maladaptive signals (eg. abnormal axonal regeneration, peripheral sensitization, etc). One or both eyes may be affected, with varying degrees of severity. The sensation of pain has been described by patients as "burning eyes", "terrible, unrelenting pain", a feeling of "a knife in my eye" or "paper cuts".[5] The pain is usually described as being located in and around the eye, but can progress to the surrounding areas of the face and head. A signature characteristic of ocular neuropathic pain is inadequately explained levels of severe, constant pain in relation to little or no sign of ocular surface damage. Providers have reported their patients describing excruciating, consistently high levels of pain, or even requesting surgical removal of the painful eye.[6] Cases of severe, refractory pain and related symptoms attributed to this condition have been described in medical publications. The severe and constant nature of the pain, as well as the difficulty in effective pain management are characteristics of severe cases. Oxford Academic described a case of a post-Lasik corneal neuralgia patient whose pain was refractory to years of aggressive ophthalmological and pain management treatments, and required surgical intervention to manage the constant, debilitating pain. Prior to surgery, the patient reported daily pain which varied from 6 to 10 on a numerical rating scale (where 0 signifies no pain and 10 the worst imaginable pain), depending on environmental factors. The pain was described as sharp, non-radiating, felt like paper cuts in both eyes, and the pain had persisted for 7 years prior to successful treatment with an implanted intrathecal pain pump.[7] ### Comorbid conditions[edit] A number of comorbid conditions have been identified which may predispose the patient to ocular neuropathic pain, including peripheral neuropathic pain, fibromyalgia, and Sjogren's Syndrome.[2] ## Causes[edit] Ocular neuropathic pain is a spectrum of disorders, the various clinical expressions of this disease are believed to reflect the complexity of overlapping networks of interactive pathogenetic cascades.[2] One or more causes may be shown to be present in a single patient through clinical examinations. ### Corneal sensitization and evaporative hyperalgesia[edit] Corneal sensitization and evaporative hyperalgesia occur as a result of trauma and environmental stress, the cornea has the highest density of nociceptors of any tissue in the body, and can become more sensitive to normal environmental stimuli. Predisposing factors to developing neuropathic pain include LASIK where it can occur as a result of aberrant nerve regeneration, tear dysfunction, blepharoplasty, excessive UV light exposure, chemical injury, and trigeminal zoster.[3] ### Peripheral injuries and central sensitization[edit] Peripheral injuries trigger complex changes in the central nociceptive system which can lead to central sensitization that enhances the sensitivity and responsiveness of the brain regions involved in sensory processing. In some cases, these physiological responses progress to neuropathic centralized pain.[2] ## Treatments[edit] Because the nerve damage and inflammation often originates in the ocular surface, conventional dry eye treatments including artificial tears are often the first line of treatment. A nonfenestrated scleral lens such as the Boston Ocular Surface Prosthesis (PROSE) can insulate the corneal surface from unwanted stimuli. Gabapentin and other neuropathic pain medications may be used to blunt sensory nerve stimulation or the perception of nerve stimulation.[1] Recent publications have shown that neuro-regenerative therapies such as 20% autologous serum eye drops and topical nerve growth factor, and anti-inflammatory agents that minimize nerve injury and sensitization from uncontrolled inflammation (e.g., corticosteroids) can be effective in patients that have not responded to prior treatments.[8] For severe refractory ocular neuropathic pain cases where conservative treatments have proven ineffective, Intrathecal Targeted Drug Delivery with an implanted intrathecal pain pump has been used to successfully treat pain symptoms[7] ## References[edit] 1. ^ a b c d "Addressing the Pain of Corneal Neuropathy". American Academy of Ophthalmology. July 2010. Retrieved 2018-04-16. 2. ^ a b c d e f Rosenthal, Perry; Borsook, David (2016). "Ocular neuropathic pain". British Journal of Ophthalmology. 100: 128–134. doi:10.1136/bjophthalmol-2014-306280. PMC 4717373. Retrieved 2018-04-16. 3. ^ a b c "Pain without stain poses diagnostic and therapeutic dilemma". Retrieved 2018-04-16. 4. ^ Kalangara, Jerry P.; Galor, Anat; Levitt, Roy C.; Felix, Elizabeth R.; Alegret, Ramon; Sarantopoulos, Constantine D. (2015). "Burning Eye Syndrome: Do Neuropathic Pain Mechanisms Underlie Chronic Dry Eye?". Pain Medicine. pp. 746–755. doi:10.1093/pm/pnv070. PMC 6281056. Missing or empty `\|url=` (help) 5. ^ "A Closer Look at Unexplained Eye Pain". Boston Eye Pain Foundation. 6. ^ "Addressing the Pain of Corneal Neuropathy". American Academy of Ophthalmology. July 2010. 7. ^ a b Hayek, Salim M.; Sweet, Jennifer A.; Miller, Jonathan P.; Sayegh, Rony R. (2016). "Successful Management of Corneal Neuropathic Pain with Intrathecal Targeted Drug Delivery". Pain Medicine. pp. 1302–1307. doi:10.1093/pm/pnv058. Missing or empty `\|url=` (help) 8. ^ "Neuropathic dry eye: When serum defeats tears". Ophthalmology Times. Retrieved 2018-05-02. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Ocular neuropathic pain	None	26,118	wikipedia	https://en.wikipedia.org/wiki/Ocular_neuropathic_pain	2021-01-18T19:07:58	{"wikidata": ["Q55627275"]}
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. Signs and symptoms vary among people with this condition; however, infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. When caused by a mutation in the CHD7 gene, it can be inherited in an autosomal dominant pattern; although most cases result from new (de novo) mutations in the gene and occur in people with no history of the condition in their family. Although there is no specific treatment or cure, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	CHARGE syndrome	c0265354	26,119	gard	https://rarediseases.info.nih.gov/diseases/29/charge-syndrome	2021-01-18T18:01:30	{"mesh": ["D058747"], "omim": ["214800"], "umls": ["C0265354"], "orphanet": ["138"], "synonyms": ["Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "CHARGE association", "Hall-Hittner syndrome"]}
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Brachydactyly type C	c1862103	26,120	gard	https://rarediseases.info.nih.gov/diseases/986/brachydactyly-type-c	2021-01-18T18:01:44	{"mesh": ["C537093"], "omim": ["113100"], "umls": ["C1862103"], "orphanet": ["93384"], "synonyms": ["BDC", "Brachydactyly Haws type"]}
Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Diffuse leptomeningeal melanocytosis	c1266114	26,121	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252031	2021-01-23T18:38:18	{"synonyms": ["DLM", "Leptomeningeal melanomatosis"]}
Superficial thrombophlebitis Other namesSuperficial vein thrombosis (SVT) Play media Superficial thrombophlebitis as seen by ultrasound[1] Superficial thrombophlebitis is a thrombosis and inflammation of superficial veins which presents as a painful induration with erythema, often in a linear or branching configuration forming cords.[2]:826–7[3] Superficial thrombophlebitis is due to inflammation and/or thrombosis, and less commonly infection of the vein. It is generally a benign, self-limited disorder, however, it can be complicated by deep vein thrombosis (DVT) and even pulmonary embolism (PE)[4] Migratory superficial thrombophlebitis is known as Trousseau's syndrome.[5] ## Contents * 1 Signs and symptoms * 1.1 Complications * 2 Risk factors * 3 Diagnosis * 4 Treatment * 5 Epidemiology * 6 See also * 7 References ## Signs and symptoms[edit] Findings of tenderness, induration, pain and/or erythema along the course of a superficial vein usually establish a clinical diagnosis, especially in patients with known risk factors. In addition, there is often a palpable, sometimes nodular cord, due to thrombus within the affected vein. Persistence of this cord when the extremity is raised suggests the presence of thrombus.[6] ### Complications[edit] Superficial vein thrombosis extension to the deep vein system and/or recurrence of SVT. Suppurative thrombophlebitis is suspected when erythema extends significantly beyond the margin of the vein and is likely to be associated with significant fever. If suspected, antibiotic treatment, surgical drainage and potentially vein excision are indicated.[7] Venous thromboembolism can occur with superficial vein thrombosis. Estimates of the percentage of patients with SVT who also have DVT vary between 6% and 53%, and symptomatic pulmonary embolism has been reported in 0% to 10% of patients with SVT.[4] ## Risk factors[edit] Patient characteristics and predisposing factors for thrombophlebitis nearly mirror those for DVT; thrombophlebitis is a risk factor for the development of DVT, and vice versa.[8] Lower extremity superficial phlebitis is associated with conditions that increase the risk of thrombosis, including abnormalities of coagulation or fibrinolysis, endothelial dysfunction, infection, venous stasis, intravenous therapy and intravenous drug abuse.[6] ## Diagnosis[edit] Clinical evaluation is the primary diagnostic tool for thrombophlebitis. Patients with thrombophlebitis complain of pain along the affected area. Some report constitutional symptoms such as low grade fever and aches. On physical examination, the skin over the affected vein exhibits erythema, warmth, swelling, and tenderness. Later in the disease, as induration subsides, erythema gives way to a ruddy or bruised color.[9] Duplex ultrasound identifies the presence, location and extent of venous thrombosis, and can help identify other pathology that may be a source of the patient's complaints. Ultrasound is indicated if superficial phlebitis involves or extends into the proximal one-third of the medial thigh, there is evidence for clinical extension of phlebitis, lower extremity swelling is greater than would be expected from a superficial phlebitis alone or diagnosis of superficial thrombophlebitis in question.[6] ## Treatment[edit] Treatment with compression stockings should be offered to patients with lower extremity superficial phlebitis, if not contraindicated (e.g., peripheral artery disease). Patients may find them helpful for reducing swelling and pain once the acute inflammation subsides. Nonsteroidal anti-inflammatory drugs (NSAID) are effective in relieving the pain associated with venous inflammation and were found in a randomized trial to significantly decrease extension and/or recurrence of superficial vein thrombosis.[10] Anticoagulation for patients with lower extremity superficial thrombophlebitis at increased risk for thromboembolism (affected venous segment of ≥5 cm, in proximity to deep venous system, positive medical risk factors).[11] Treatment with fondaparinux reduces the risk of subsequent venous thromboembolism.[12] Surgery reserved for extension of the clot to within 1 cm of the saphenofemoral junction in patients deemed unreliable for anticoagulation, failure of anticoagulation and patients with intense pain.[9] Surgical therapy with ligation of saphenofemoral junction or stripping of thrombosed superficial veins appears to be associated higher rates of venous thromboembolism compared with treatment with anticoagulants.[13] ## Epidemiology[edit] Some 125,000 cases a year have been reported in the United States, but actual incidence of spontaneous thrombophlebitis is unknown.[14] A fourfold increased incidence from the third to the eight decade in men and a preponderance among women of approximately 55-70%.[15] The average mean age of affected patients is 60 years.[8] Thrombophlebitis can develop along the arm, back, or neck veins, the leg is by far the most common site. When it occurs in the leg, the great saphenous vein is usually involved, although other locations are possible.[9] ## See also[edit] * Septic thrombophlebitis * Superficial vein thrombosis ## References[edit] 1. ^ Smith B (27 March 2015). "UOTW #42". Ultrasound of the Week. Retrieved 27 May 2017. 2. ^ James WD, Elston DM, Berger TG, Andrews GC (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. 3. ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. 4. ^ a b Decousus H, Quéré I, Presles E, Becker F, Barrellier MT, Chanut M, Gillet JL, Guenneguez H, Leandri C, Mismetti P, Pichot O, Leizorovicz A (February 2010). "Superficial venous thrombosis and venous thromboembolism: a large, prospective epidemiologic study". Annals of Internal Medicine. 152 (4): 218–24. doi:10.7326/0003-4819-152-4-201002160-00006. PMID 20157136. 5. ^ Creager M, Loscalzo J, Beckman JA (30 August 2012). Vascular Medicine: A Companion to Braunwald's Heart Disease. Elsevier Health Sciences. p. 141. ISBN 9781455737369. 6. ^ a b c Fernandez L, Scovell S, Eidt JF, Mills JL, Collins KA (2011). "Superficial thrombophlebitis of the lower extremity". UpToDate. Waltham, MA. 7. ^ Davidović L, Kostić D, Lotina S, Cinara I (1990). "[Indications for surgical treatment of acute superficial thrombophlebitis]". Srpski Arhiv Za Celokupno Lekarstvo. 118 (11–12): 471–3. PMID 2133604. 8. ^ a b Decousus H, Epinat M, Guillot K, Quenet S, Boissier C, Tardy B (September 2003). "Superficial vein thrombosis: risk factors, diagnosis, and treatment". Current Opinion in Pulmonary Medicine. 9 (5): 393–7. doi:10.1097/00063198-200309000-00009. PMID 12904709. 9. ^ a b c Karwowski JK (November 2007). "How to manage thrombophlebitis of the lower extremities: why this malady warrants close attention". Contemporary Surgery. 63 (11): 552–8. 10. ^ Superficial Thrombophlebitis Treated By Enoxaparin Study Group (July 2003). "A pilot randomized double-blind comparison of a low-molecular-weight heparin, a nonsteroidal anti-inflammatory agent, and placebo in the treatment of superficial vein thrombosis". Archives of Internal Medicine. 163 (14): 1657–63. doi:10.1001/archinte.163.14.1657. PMID 12885680. 11. ^ Kearon C, Kahn SR, Agnelli G, Goldhaber S, Raskob GE, Comerota AJ (June 2008). "Antithrombotic therapy for venous thromboembolic disease: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition)". Chest. 133 (6 Suppl): 454S–545S. doi:10.1378/chest.08-0658. PMID 18574272. 12. ^ Di Nisio M, Wichers IM, Middeldorp S (February 2018). "Treatment for superficial thrombophlebitis of the leg". The Cochrane Database of Systematic Reviews. 2: CD004982. doi:10.1002/14651858.CD004982.pub6. PMC 6491080. PMID 29478266. 13. ^ Belcaro G, Nicolaides AN, Errichi BM, Cesarone MR, De Sanctis MT, Incandela L, Venniker R (July 1999). "Superficial thrombophlebitis of the legs: a randomized, controlled, follow-up study". Angiology. 50 (7): 523–9. doi:10.1177/000331979905000701. PMID 10431991. 14. ^ Blumenberg RM, Barton E, Gelfand ML, Skudder P, Brennan J (February 1998). "Occult deep venous thrombosis complicating superficial thrombophlebitis". Journal of Vascular Surgery. 27 (2): 338–43. doi:10.1016/S0741-5214(98)70364-7. PMID 9510288. 15. ^ Coon WW, Willis PW, Keller JB (October 1973). "Venous thromboembolism and other venous disease in the Tecumseh community health study". Circulation. 48 (4): 839–46. doi:10.1161/01.cir.48.4.839. PMID 4744789. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Superficial thrombophlebitis	c0235511	26,122	wikipedia	https://en.wikipedia.org/wiki/Superficial_thrombophlebitis	2021-01-18T19:02:35	{"umls": ["C0235511"], "wikidata": ["Q3525982"]}
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255). Mapping To identify genetic variants influencing adult human height, Weedon et al. (2008) used genomewide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. They identified strong association with a single-nucleotide polymorphism (SNP) in the CDK6 gene (603368), rs2282978 (combined P = 7.8 x 10(-23)). The CDK6 gene is located on chromosome 7q21 and encodes a cyclin-dependent kinase implicated in cell cycle progression. Overall, Weedon et al. (2008) identified 20 variants associated with adult height (P less than 5 x 10(-7), with 10 reaching P less than 1 x 10(-10)). The 20 SNPs together explain approximately 3% of height variation, with an approximately 5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. Each of the robustly associated variants identified in the study altered height by between approximately 0.2 and 0.6 centimeters per allele. Lettre et al. (2008) carried out a metaanalysis of genomewide association study data of height for 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in greater than 10,000 subjects. A SNP in the CDK6 gene, rs2040494 showed strong association (P = 3.8 x 10(-7)). Lettre et al. (2008) identified 12 loci in all that were strongly associated with variation in height (P values from 4 x 10(-7) to 8 x 10(-22)) and that together accounted for approximately 2% of the population variation in height. Individuals with 8 or fewer height-increasing alleles and 16 or more height-increasing alleles differed in height by approximately 3.5 cm. The combined effect size of the rs2040494 C allele was -0.262 cm. Gudbjartsson et al. (2008) searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans, and 1,148 African Americans. The authors then combined their data with previously published results from the Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research (2007) on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. Two SNPs in the CDK6 gene, rs2282978 and rs11765954, achieved P values of 9.8 x 10(-9) and 6.9 x 10(-8), respectively. In all Gudbjartsson et al. (2008) identified 27 regions of the genome with 1 or more sequence variants showing significant association with height. To identify loci associated with stature, Soranzo et al. (2009) performed a genomewide scan in 12,611 participants followed by replication in an additional 7,187 individuals. All participants were of British or Dutch descent. Soranzo et al. (2009) confirmed the association with rs2282978 (combined P = 1.2 x 10(-8)). [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	STATURE QUANTITATIVE TRAIT LOCUS 11	c2677134	26,123	omim	https://www.omim.org/entry/612223	2019-09-22T16:02:15	{"omim": ["612223"]}
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: "Mohr–Tranebjærg syndrome" – news · newspapers · books · scholar · JSTOR (March 2020) (Learn how and when to remove this template message) Mohr–Tranebjærg syndrome Other namesDeafness–dystonia–optic neuronopathy syndrome, Deafness–dystonia–optic atrophy syndrome, Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency Mohr–Tranebjærg syndrome is inherited in an X-linked recessive manner Mohr–Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration. ## Contents * 1 Genetics * 2 Clinical * 3 Diagnosis * 3.1 Differential diagnosis * 4 Treatment * 5 History * 6 See also * 7 References * 8 External links ## Genetics[edit] This condition is caused by mutations in the TIMM8A gene. This gene is located on the long arm of X chromosome (Xq22). The protein encoded by this gene localizes to the intermembrane space in mitochondria where it functions in the import of nuclear encoded proteins into the mitochondrial inner membrane. How this produces the clinical picture is not yet clear. ## Clinical[edit] The usual presentation is of early childhood onset hearing loss. This is followed by adolescent onset progressive dystonia or ataxia, visual impairment in early adulthood and early onset of dementia. The onset of dystonia is accompanied by brisk tendon reflexes, ankle clonus and extensor plantar responses. Loss of vision, photophobia, acquired color vision defect and central scotomas usually occur about 20 years of age. By the age of 30 to 40 many are legally blind. This visual loss is normally accompanied by a slowly progressive dementia. ## Diagnosis[edit] This is made by sequencing the TIMM8A gene. ### Differential diagnosis[edit] This is long and includes * Arts syndrome * Autosomal recessive nonsyndromic sensorineural deafness type DFNB * Friedreich ataxia * MELAS syndrome * Mitochondrial DNA depletion syndrome (encephalomyopathic form with methylmalonic aciduria) * McLeod neuroacanthocytosis syndrome * Pendred syndrome * Usher syndrome type 1 and 2 * Wolfram syndrome * X-linked spinocerebellar ataxia type 3 and 4 ## Treatment[edit] Cocheal implants are of dubious value in this condition. Hearing aids are of use. Treatment is supportive. ## History[edit] This condition was first described in 1960.[1] ## See also[edit] * Mitochondrial disorders * TIMM13 and TIMM8A * Dystonia ## References[edit] 1. ^ Mohr J, Mageroy K (1960). "Sex-linked deafness of a possibly new type". Acta Genet Stat Med. 10: 54–62. PMID 13771732. ## External links[edit] Classification D * ICD-10: G31.8 * OMIM: 304700 * MeSH: C535808 External resources * Orphanet: 52368 * GeneReviews/NCBI/NIH/UW entry on Deafness–Dystonia–Optic Neuronopathy Syndrome * MTS — a page at NIH website * v * t * e X-linked disorders X-linked recessive Immune * Chronic granulomatous disease (CYBB) * Wiskott–Aldrich syndrome * X-linked severe combined immunodeficiency * X-linked agammaglobulinemia * Hyper-IgM syndrome type 1 * IPEX * X-linked lymphoproliferative disease * Properdin deficiency Hematologic * Haemophilia A * Haemophilia B * X-linked sideroblastic anemia Endocrine * Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy * KAL1 Kallmann syndrome * X-linked adrenal hypoplasia congenita Metabolic * Amino acid: Ornithine transcarbamylase deficiency * Oculocerebrorenal syndrome * Dyslipidemia: Adrenoleukodystrophy * Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency * Pyruvate dehydrogenase deficiency * Danon disease/glycogen storage disease Type IIb * Lipid storage disorder: Fabry's disease * Mucopolysaccharidosis: Hunter syndrome * Purine–pyrimidine metabolism: Lesch–Nyhan syndrome * Mineral: Menkes disease/Occipital horn syndrome Nervous system * X-linked intellectual disability: Coffin–Lowry syndrome * MASA syndrome * Alpha-thalassemia mental retardation syndrome * Siderius X-linked mental retardation syndrome * Eye disorders: Color blindness (red and green, but not blue) * Ocular albinism (1) * Norrie disease * Choroideremia * Other: Charcot–Marie–Tooth disease (CMTX2-3) * Pelizaeus–Merzbacher disease * SMAX2 Skin and related tissue * Dyskeratosis congenita * Hypohidrotic ectodermal dysplasia (EDA) * X-linked ichthyosis * X-linked endothelial corneal dystrophy Neuromuscular * Becker's muscular dystrophy/Duchenne * Centronuclear myopathy (MTM1) * Conradi–Hünermann syndrome * Emery–Dreifuss muscular dystrophy 1 Urologic * Alport syndrome * Dent's disease * X-linked nephrogenic diabetes insipidus Bone/tooth * AMELX Amelogenesis imperfecta No primary system * Barth syndrome * McLeod syndrome * Smith–Fineman–Myers syndrome * Simpson–Golabi–Behmel syndrome * Mohr–Tranebjærg syndrome * Nasodigitoacoustic syndrome X-linked dominant * X-linked hypophosphatemia * Focal dermal hypoplasia * Fragile X syndrome * Aicardi syndrome * Incontinentia pigmenti * Rett syndrome * CHILD syndrome * Lujan–Fryns syndrome * Orofaciodigital syndrome 1 * Craniofrontonasal dysplasia * v * t * e Mitochondrial diseases Carbohydrate metabolism * PCD * PDHA Primarily nervous system * Leigh disease * LHON * NARP Myopathies * KSS * Mitochondrial encephalomyopathy * MELAS * MERRF * PEO No primary system * DAD * MNGIE * Pearson syndrome Chromosomal * OPA1 * Kjer's optic neuropathy * SARS2 * HUPRA syndrome * TIMM8A * Mohr–Tranebjærg syndrome see also mitochondrial proteins This article about an ophthalmic disease is a stub. You can help Wikipedia by expanding it. * v * t * e This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it. * v * t * e 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 [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Mohr–Tranebjærg syndrome	c0796074	26,124	wikipedia	https://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome	2021-01-18T19:00:44	{"gard": ["8331"], "mesh": ["C535808"], "umls": ["C0796074"], "orphanet": ["3213", "52368"], "wikidata": ["Q3508677"]}
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Find sources: "Antepartum bleeding" – news · newspapers · books · scholar · JSTOR (September 2010) (Learn how and when to remove this template message) Antepartum bleeding Other namesAntepartum haemorrhage (APH), prepartum haemorrhage SpecialtyObstetrics Antepartum bleeding, also known as antepartum haemorrhage or prepartum hemorrhage, is genital bleeding during pregnancy after the 28th week of pregnancy up to delivery.[1][2] It can be associated with reduced fetal birth weight.[3] Use of aspirin before 16 weeks of pregnancy to prevent pre-eclampsia also appears effective at preventing antepartum bleeding.[4] In regard to treatment, it should be considered a medical emergency (regardless of whether there is pain), as if it is left untreated it can lead to death of the mother or baby. ## Contents * 1 Classification * 2 Causes * 2.1 Placenta praevia * 2.2 Abnormal placentation * 2.3 Placental abruption * 2.4 Vasa praevia * 2.5 Abnormal placental shape * 2.6 Minor causes * 3 Diagnosis * 3.1 Differential diagnosis * 4 See also * 5 References * 6 External links ## Classification[edit] The total amount of blood loss and signs of circulatory shock due to blood determine the severity of the antepartum haemorrhaging. There are 4 degrees of antepartum haemorrhaging:[5] Stage Amount of Blood Loss Spotting Stains, streaking, or spotting of blood Minor Haemorrhage Less than 50mL Major Haemorrhage 50-1000mL without signs of circulatory shock Massive Haemorrhage Greater than 1000mL with or without signs of circulatory shock ## Causes[edit] ### Placenta praevia[edit] Placenta praevia refers to when the placenta of a growing foetus is attached abnormally low within the uterus. Intermittent antepartum haemorrhaging occurs in 72% of women living with placenta praevia.[6] The severity of a patient's placenta praevia depends on the location of placental attachment; Type Location of Placental Attachment Type 1 Lower segment of uterus, no attachment to the cervix Type 2 Touching but not covering the internal orifice of the cervix Type 3 Partially covering the internal orifice of the cervix Type 4 Completely covering the internal orifice of the cervix Types 1 and 2 are classified as minor placental praevia as these typically result in minor antepartum haemorrhaging. Types 3 and 4 are referred to as major placental praevia due to the risk of heavy haemorrhaging in the case of a rupture due to the location of placental attachment.[7] During the third trimester of pregnancy, thinning of the lower uterine segment or contractions caused by cervical dilation can increase the amount of stress placed on the placental attachment to the uterine wall. In patients with placenta praevia, these stresses can cause detachment of the placenta from the uterine wall causing haemorrhaging. To prevent further haemorrhaging patients with major placental praevia are recommended to have a caesarean delivery.[8] ### Abnormal placentation[edit] During pregnancy the layer of endometrium that attaches directly to developing blastocyst becomes the maternal portion of the placenta, also known as the decidua basalis.[9] In the absence of a decidua basalis, trophoblast cells on the developing blastocyst form an abnormally deep attachment to the uterine wall, this is known as abnormal placentation. Abnormal placentation can categorised into 3 types, depending on the depth of infiltration of the chorionic villi into the uterine wall:[10] Type Depth of Chorionic Villus Placenta Accreta Attached to outermost portion of the myometrium Placenta Increta Invading the myometrium Placenta Percreta Invading past the myometrium into the perimetrium In placenta percreta, the chorionic villi have grow entirely through the myometrium and invade into the perimetrium. Placenta percreta results in the most intense haemorrhaging that can be expected caused by abnormal placentation. In the event of placental detachment from the uterine wall, the depth of chorionic villi attachment dictates the amount of haemorrhaging that can be expected.[11] The chance of abnormal placentation increases in subsequent pregnancies, if there is scar tissue present from previous pregnancies. For example, previously undergoing a caesarean or placenta previa increases the likelihood of abnormal placentation, therefore increasing the chances of antepartum haemorrhaging.[12] ### Placental abruption[edit] Placental abruption occurs when the placenta detaches from the endometrium. Detachment causes antepartum haemorrhaging at the location of abruption. Depending on the site of detachment, haemorrhaging may or may not be apparent. If abruption occurs behind the placenta where blood cannot escape through the cervix, blood will pool and form a retroplacental clot. Only when the site of detachment occurs on the side facing the cervical opening can the total amount of haemorrhaging be measured by vaginal bleeding. Using vaginal bleeding as a measurement of the severity of the placental abruption is therefore ineffective. The scale of haemorrhaging depends on the degree to which the placenta has separated from the uterine wall. In the case of partial placental separation, haemorrhaging can be minor. However, in the case of total placental separation haemorrhaging will be major and emergency delivery will typically be the course of action.[13] Placental abruption causes blood loss from the mother and loss of oxygen and nutrients to the placenta occasionally leading to preterm labour.[14] Other causes of placental abruption can be abdominal trauma or sudden decompression of amniotic fluid, however it is not uncommon for the cause of placental abruption to be unknown.[15] ### Vasa praevia[edit] Vasa praevia is the presence of unprotected foetal blood vessels running along the placenta and over the internal cervical opening. Vasa praevia is a very rare, presenting only 4:10,000 cases from the largest study of the condition.[16] Risks of antepartum bleeding due to vasa praevia greatly increase during the third trimester of pregnancy during cervical dilation or placenta praevia. Vessel rupture is very likely in the event of a membranous rupture as foetal blood vessels aren't protected by the umbilical cord of the placenta. In the event of foetal vessel rupture, antepartum haemorrhaging occurs however blood is lost from the foetal blood supply. If the foetus is developed enough caesarean sections are often recommended.[17] ### Abnormal placental shape[edit] * Circumvallate placenta A circumvallate placenta refers to when the foetal membrane wraps twice around, over the foetal side around the edge of the placenta. This is to compensate for an undersized chorionic plate resulting in a decreased nutritional supply to the foetus. Thickening of the placental edge due to a circumvallate placenta can lead to placental abruption, causing antepartum haemorrhaging.[18] * Bilobed Placenta A bilobed placenta has a cleavage in the middle dividing it into two lobes with membranous vessels branching in between. The exposed connecting membranous vessels present risk of rupturing due to limited protection from thrombosis and trauma. Bilobing of the placenta can be caused by placental implantation occurring over areas of uterine fibroid scarring, previous surgery, decreased blood supply or implantation occurring over the internal cervical orifice. Chances of vasa previa and placental abruption increase in the presence of a bilobed placenta due to decreased surface area for attachment to the uterine wall and the exposure of membranous vessels.[19] * Multilobed or Succenturiate Placenta When a placenta has multiple lobes which are distal and not of equal size this is referred to as a succenturiate placenta. Distal lobes are connected by a placental artery and vein extending from the main placenta, which tends to be centrally located and is the largest in mass.[20] At the time of contraction or delivery the connecting placental arteries and veins may rupture resulting in significant haemorrhaging. Incidences of vasa previa and haemorrhaging in the presence of a succenturiate placenta are highly increased.[21] * Fetal blood (can be distinguished with Apt test) ### Minor causes[edit] Cervical ectropion There are 2 types of epithelial cells present within the cervical canal. In the endocervix the epithelia is columnar glandular which transitions into stratified squamous towards the ectocervix and external cervical orifice. During cervical ectropion the epithelial transitional zone (also called the squamo-columnar junction) migrates from the endocervical canal towards the ectocervix exposing some columnar glandular cells on the external cervical orifice. Unlike stratified squamous epithelial cells, glandular cells are columnar and not used to external stresses such as abrasion. The translocation of these cells causes bleeding and mucus secretion. Cervical ectropion can be attributed to rises in oestrogen levels during foetal development. Antepartum haemorrhage caused by cervical ectropion can be expected and is typically harmless.[22] Vaginal infection The presence of severe vaginal infections at the time of pregnancy may cause minor antepartum haemorrhaging. For example, the presence of chlamydia, thrush, cervicitis or other infections are all irritants to the vaginal and cervical lining, causing bleeding from those surfaces where the infection is severe.[23] Cervical canal and distal genital tract Most cases of Antepartum haemorrhaging originate from within the cervical canal or vagina. The amount of bleeding in these areas are typically limited to spotting or minor antepartum haemorrhaging. Cervical ectropion, dysplasia, polyps or cervical carcinoma may cause lesions in the cervix leading to minor haemorrhaging or spotting. Abrasion or slight trauma caused by intercourse, clinical examinations and pap smear may also cause spotting from the cervix. Vaginal bleeding from atrophy, vaginitis, and ulcers also attribute to minor haemorrhaging. Similarly, varicosities, tumours or inflammation in the vulva can cause minor antepartum haemorrhaging. Non genital tract bleeding caused by haematuria or haemorrhoids can often be mistaken for antepartum haemorrhaging and are typically harmless.[24] ## Diagnosis[edit] ### Differential diagnosis[edit] * GI bleed \- haemorrhoids, inflammatory bowel disease ## See also[edit] * Obstetrical haemorrhage ## References[edit] 1. ^ patient.info » PatientPlus » Antepartum Haemorrhage 2. ^ The Royal Women’s Hospital > antepartum haemorrhage Archived 2010-01-08 at the Wayback Machine Retrieved on Jan 13, 2009 3. ^ Lam CM, Wong SF, Chow KM, Ho LC (2000). "Women with placenta praevia and antepartum haemorrhage have a worse outcome than those who do not bleed before delivery". Journal of Obstetrics and Gynaecology. 20 (1): 27–31. doi:10.1080/01443610063417. PMID 15512459. 4. ^ Roberge, S; Bujold, E; Nicolaides, KH (May 2018). "Meta-analysis on the effect of aspirin use for prevention of preeclampsia on placental abruption and antepartum hemorrhage". American Journal of Obstetrics and Gynecology. 218 (5): 483–489. doi:10.1016/j.ajog.2017.12.238. PMID 29305829. 5. ^ Antepartum Haemorrhage. (2015). Perth, Western Australia: Department of Health Western Australia, pp.3-6. 6. ^ Love, C. and Wallace, E. (1996). Pregnancies complicated by placenta praevia: what is appropriate management?. BJOG: An International Journal of Obstetrics and Gynaecology, 103(9), pp.864-867. 7. ^ Royal College of Obstetricians & Gynaecologists. (2018). Placenta Praevia, Placenta Praevia Accreta and Vasa Praevia: Diagnosis and Management (Green-top Guideline No. 27). [online] Available at: https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg27/ [Accessed 27 Apr. 2018]. 8. ^ Better Helth Channel. (2018). Placenta Previa. [online] Available at: https://www.betterhealth.vic.gov.au/health/healthyliving/placenta-previa [Accessed 27 Apr. 2018]. 9. ^ Gest, T. (2018). Placenta and Extraembryonic Membranes. [online] The University of Michigan Medical School - Anatomy. Available at: https://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm [Accessed 31 May 2018]. 10. ^ Silver, R. (2015). Abnormal Placentation. Obstetrics & Gynecology, 126(3), pp.654-668. 11. ^ Smith, Z., Sehgal, S., Van Arsdalen, K. and Goldstein, I. (2014). Placenta Percreta With Invasion into the Urinary Bladder. Urology Case Reports, 2(1), pp.31-32. 12. ^ Nielsen, T., Hagberg, H. and Ljungblad, U. (1989). Placenta previa and Antepartum Hemorrhage after Previous Cesarean Section. Gynecologic and Obstetric Investigation, 27(2), pp.88-90. 13. ^ American Pregnancy Association. (2018). Placental Abruption: Risks, Causes, Symptoms and Treatment. [online] Available at: http://americanpregnancy.org/pregnancy-complications/placental-abruption/ [Accessed 27 Apr. 2018]. 14. ^ Better Health Channel. (2014). Placental Abruption. [online] Available at: https://www.betterhealth.vic.gov.au/health/healthyliving/placental-abruption [Accessed 27 Apr. 2018]. 15. ^ TIKKANEN, M. (2010). Placental abruption: epidemiology, risk factors and consequences. Acta Obstetricia et Gynecologica Scandinavica, 90(2), pp.140-149. 16. ^ Derbala, Y., Grochal, F. and Jeanty, P. (2007). Vasa Praevia. Journal of Prenatal Medicine. 17. ^ Ruiter, L., Kok, N., Limpens, J., Derks, J., de Graaf, I., Mol, B. and Pajkrt, E. (2015). Incidence of and risk indicators for vasa praevia: a systematic review. BJOG: An International Journal of Obstetrics & Gynaecology, 123(8), pp.1278-1287. 18. ^ Hermann, Z. (1963). Circumvallate Placenta, a Cause of Antepartum Bleeding, Premature Delivery, and Perinatal Mortality. Obstetrics & Gynecology, 22(6), pp.798-802. 19. ^ Rathburn, K. and Hildebrand, J. (2017). Placenta, Abnormalities. 20. ^ Antepartum haemorrhage or bleeding in the second half of pregnancy. (2013). p.14. 21. ^ Suzuki, S. and Igarashi, M. (2007). Clinical significance of pregnancies with succenturiate lobes of placenta. Archives of Gynecology and Obstetrics, 277(4), pp.299-301. 22. ^ Cervical ectropion (cervical erosion). (2015). Guy's and St Rhomas' NHS Foundation Trust, pp.1-2. 23. ^ Mater Patient Information. (2018). Antepartum haemorrhage - Mater Patient Information. [online] Available at: http://brochures.mater.org.au/brochures/mater-mothers-hospital/antepartum-haemorrhage [Accessed 27 Apr. 2018]. 24. ^ Antepartum haemorrhage or bleeding in the second half of pregnancy. (2013). p.11. ## External links[edit] Classification D * ICD-10: O46 * ICD-9-CM: 641 * DiseasesDB: 30077 * v * t * e Pathology of pregnancy, childbirth and the puerperium Pregnancy Pregnancy with abortive outcome * Abortion * Ectopic pregnancy * Abdominal * Cervical * Interstitial * Ovarian * Heterotopic * Embryo loss * Fetal resorption * Molar pregnancy * Miscarriage * Stillbirth Oedema, proteinuria and hypertensive disorders * Gestational hypertension * Pre-eclampsia * HELLP syndrome * Eclampsia Other, predominantly related to pregnancy Digestive system * Acute fatty liver of pregnancy * Gestational diabetes * Hepatitis E * Hyperemesis gravidarum * Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy * Gestational pemphigoid * Impetigo herpetiformis * Intrahepatic cholestasis of pregnancy * Linea nigra * Prurigo gestationis * Pruritic folliculitis of pregnancy * Pruritic urticarial papules and plaques of pregnancy (PUPPP) * Striae gravidarum Nervous system * Chorea gravidarum Blood * Gestational thrombocytopenia * Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity * amniotic fluid * Oligohydramnios * Polyhydramnios * Braxton Hicks contractions * chorion / amnion * Amniotic band syndrome * Chorioamnionitis * Chorionic hematoma * Monoamniotic twins * Premature rupture of membranes * Obstetrical bleeding * Antepartum * placenta * Circumvallate placenta * Monochorionic twins * Placenta accreta * Placenta praevia * Placental abruption * Twin-to-twin transfusion syndrome Labor * Amniotic fluid embolism * Cephalopelvic disproportion * Dystocia * Shoulder dystocia * Fetal distress * Locked twins * Nuchal cord * Obstetrical bleeding * Postpartum * Pain management during childbirth * placenta * Placenta accreta * Preterm birth * Postmature birth * Umbilical cord prolapse * Uterine inversion * Uterine rupture * Vasa praevia Puerperal * Breastfeeding difficulties * Low milk supply * Cracked nipples * Breast engorgement * Childbirth-related posttraumatic stress disorder * Diastasis symphysis pubis * Postpartum bleeding * Peripartum cardiomyopathy * Postpartum depression * Postpartum psychosis * Postpartum thyroiditis * Puerperal fever * Puerperal mastitis Other * Concomitant conditions * Diabetes mellitus * Systemic lupus erythematosus * Thyroid disorders * Maternal death * Sexual activity during pregnancy * Category [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Antepartum bleeding	c0269608	26,125	wikipedia	https://en.wikipedia.org/wiki/Antepartum_bleeding	2021-01-18T18:38:38	{"icd-9": ["641"], "icd-10": ["O46"], "wikidata": ["Q2071048"]}
VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. Treatment depends on the symptoms, and may include surgery to repair the birth defects, followed by long-term managment. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	VACTERL association	c0220708	26,126	gard	https://rarediseases.info.nih.gov/diseases/5443/vacterl-association	2021-01-18T17:57:12	{"mesh": ["C536534"], "omim": ["192350"], "orphanet": ["887"], "synonyms": ["VATER association"]}
## Clinical Features Carnevale et al. (1976) described a brother and sister with congenital absence of gluteal muscles and with spina bifida occulta. They posited that the sibs were homozygous for a gene that, in heterozygous form in both parents and 2 apparently normal sibs, was expressed as sacral spina bifida occulta. Two other sibs had died soon after birth, one with anencephaly and the other with probable spina bifida. Edgar et al. (2012) reported the case of a 15-year-old white male with congenital absence of the gluteus maximus muscles associated with spina bifida occulta, learning disability, optic nerve hypoplasia, scoliosis, and central nervous system hamartomas. INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Optic nerve hypoplasia (in 1 patient) SKELETAL Spine \- Spina bifida occulta \- Scoliosis (in 1 patient) MUSCLE, SOFT TISSUES \- Congenital absence of gluteal muscles NEUROLOGIC Central Nervous System \- Mental retardation (in 2 patients) Learning disability (in 1 patient) MISCELLANEOUS \- Based on 2 reports of 3 patients (last curated September 2012) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	GLUTEAL MUSCLES, ABSENCE OF	c1856398	26,127	omim	https://www.omim.org/entry/231970	2019-09-22T16:27:33	{"omim": ["231970"]}
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures). People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes. A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs. MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely. ## Frequency Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. ## Causes The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C. The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein. Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia. ### Learn more about the genes associated with Mandibuloacral dysplasia * LMNA * ZMPSTE24 ## Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	Mandibuloacral dysplasia	c0432291	26,128	medlineplus	https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/	2021-01-27T08:24:57	{"gard": ["11893"], "mesh": ["C535705"], "omim": ["248370", "608612"], "synonyms": []}
A number sign (#) is used with this entry because of evidence that familial temporal lobe epilepsy-8 (ETL8) is caused by heterozygous mutation in the GAL gene (137035) on chromosome 11q13. One such family has been reported. For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512). Clinical Features Guipponi et al. (2015) reported a pair of monozygotic twin brothers who developed temporal lobe epilepsy at age 13 years. Both reported aura variably characterized by abdominal discomfort, incoherent speech, blurred vision, auditory hallucinations, slow ideation, or deja vu. The symptoms were consistent with complex partial seizures with occasional secondary generalization. Brain MRI was normal. Both patients responded well to antiepileptic medication. Molecular Genetics In 2 monozygotic male twins with ETL8, Guipponi et al. (2015) identified a de novo heterozygous missense mutation in the GAL gene (A39E; 137035.0001). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro functional studies showed that the mutant protein had antagonistic activity against GALR1 (600377)-mediated responses as well as decreased binding affinity and reduced agonist properties for GALR2 (603691). These findings suggested that the mutant protein could impair galanin signaling in the hippocampus, leading to increased glutamatergic excitation and ultimately to epilepsy. Sequencing of the GAL gene in a cohort of 582 additional patients with epilepsy did not identify any mutations. INHERITANCE \- Autosomal dominant NEUROLOGIC Central Nervous System \- Temporal lobe epilepsy \- Complex partial seizures \- Aura \- Secondary generalization MISCELLANEOUS \- Onset in teenage years \- Favorable response to antiepileptic medication \- A pair of monozygotic twins have been reported (last curated July 2015) MOLECULAR BASIS \- Caused by mutation in the galanin gene (GAL, 137035.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	EPILEPSY, FAMILIAL TEMPORAL LOBE, 8	c1838062	26,129	omim	https://www.omim.org/entry/616461	2019-09-22T15:48:50	{"doid": ["0060754"], "mesh": ["C537297"], "omim": ["616461"], "orphanet": ["101046"]}
## Description Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998). Clinical Features Grundfast and Milmoe (1982) reported congenital bilateral abductor vocal cord paralysis in a father and his son and daughter. The vocal cord paralysis was associated with swallowing difficulty during infancy in all 3. Although both the son and daughter required tracheostomies during the neonatal period, both showed improvement of vocal cord movement during infancy so that decannulation was possible before 14 months of age. Grundfast and Milmoe (1982) suspected delay in neurologic maturation as the cause of the disorder. Morelli et al. (1980, 1982) described 5 members of a family with autosomal dominant inheritance of Gerhardt syndrome. The severity of the disorder was variable: 2 died of neonatal asphyxia, one had partial paralysis with mild symptoms, and 3 required surgery. Two of those affected had clubfoot. Cunningham et al. (1985) described a brother and 2 sisters with neonatal stridor due to abductor paralysis. Temporary tracheostomy was necessary in 1. On the mother's side the family history was noncontributory; the father's family history was unavailable. Schinzel et al. (1990) described a family in which a brother and 2 sisters with remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the 2 older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, who was healthy and of normal intelligence, was found on laryngoscopy to have unilateral laryngeal abductor paralysis. Manaligod and Smith (1998) reported a family in which 3 members had autosomal dominant inheritance of laryngeal abductor paralysis. Two other family members had hoarseness or a soft voice. Inheritance Although X-linked recessive inheritance has been suggested by some pedigrees (see 308850), autosomal dominant inheritance is clear in the kindred reported by Morelli et al. (1980, 1982) which had 5 affected persons in 3 generations with 2 instances of male-to-male transmission, and in the family of Gacek (1976) with father and 2 sons affected. Brunner and Herrmann (1982) reported an autosomal dominant pedigree with laryngeal abductor and adductor paralysis and suggested linkage to HLA on chromosome 6. Schinzel et al. (1990) suggested autosomal dominant inheritance of congenital laryngeal abductor paralysis and moderate mental retardation in 3 affected sibs of remotely consanguineous parents; however, autosomal recessive inheritance, with both parents carriers and the mother an affected homozygote, and X-linked inheritance were also considered possible. INHERITANCE \- Autosomal dominant RESPIRATORY \- Recurrent cyanosis in infancy Larynx \- Laryngeal abductor paralysis \- Vocal fold paralysis (VFP) Airways \- Stridor SKELETAL Limbs \- Clubfoot (in some patients) VOICE \- Soft voice \- Hoarseness MISCELLANEOUS \- Onset in infancy \- Death due to asphyxia (in some patients) \- Vocal cord paralysis is also seen in Charcot-Marie-Tooth disease (see 607706 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports	LARYNGEAL ABDUCTOR PARALYSIS	c0396059	26,130	omim	https://www.omim.org/entry/150260	2019-09-22T16:39:06	{"mesh": ["C536354"], "omim": ["150260"], "orphanet": ["2808"], "synonyms": ["Alternative titles", "LABD", "GERHARDT SYNDROME", "VOCAL CORD DYSFUNCTION, FAMILIAL"]}
Eye condition Eye strain Other namesAsthenopia, aesthenopia SpecialtyOphthalmology 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: "Eye strain" – news · newspapers · books · scholar · JSTOR (October 2020) (Learn how and when to remove this template message) Eye strain, also known as asthenopia (from Greek a-sthen-opia, Ancient Greek: ἀσθεν-ωπία, transl. weak-eye-condition), is an eye condition that manifests through non-specific symptoms such as fatigue, pain in or around the eyes, blurred vision, headache, and occasional double vision. Symptoms often occur after long-term use of computers, digital devices, reading or other activities that involve extended visual tasks [1] which are broadly classified into external and internal symptom factors.[2] When concentrating on a visually intense task, such as continuously focusing on a book or computer monitor, the ciliary muscles and the extraocular muscles are strained. This causes discomfort, soreness or pain on the eyeballs. Closing the eyes for ten minutes and relaxing the muscles of the face and neck at least once an hour usually alleviates the problem. A page or photograph with the same image twice, but slightly displaced (from a printing mishap, a camera moving during the shot, etc.) can cause eye strain due to the brain misinterpreting the image fault as diplopia and trying in vain to adjust the sideways movements of the two eyeballs to fuse the two images into one. Eye strain can also happen when viewing a blurred image (including images deliberately partly blurred for censorship), due to the ciliary muscle tightening trying in vain to focus the blurring out. ## Contents * 1 Symptoms * 2 Therapy * 3 See also * 4 References * 5 External links ## Symptoms[edit] Fatigue related eye strain[3][4]: * blurred vision * difficulty in refocusing * irritated or burning eyes * dry eyes * tired eyes * sensitivity to bright lights * eye discomfort * headaches * sore eyes ## Therapy[edit] Fatigue related eye strain Known methods of relieving strain of the ocular muscles are: taking periodic breaks by closing the eyes,[5] obtaining good sleep and proper nutrition.[6] ## See also[edit] * Astigmatism * Computer vision syndrome * Eye examination * Ocular neurosis * Photophobia * Vision therapy * Visual looming syndrome ## References[edit] 1. ^ FT, Vaz; SP, Henriques; DS, Silva; J, Roque; AS, Lopes; M, Mota (April 2019). "Digital Asthenopia: Portuguese Group of Ergophthalmology Survey". Acta Med Port. 32(4): 260–265. doi:10.20344/amp.10942. 2. ^ JE, Sheedy; JN, Hayes; J, Engle (November 2003). "Is all asthenopia the same?". Optom Vis Sci. 80(11): 732–739. doi:10.1097/00006324-200311000-00008. 3. ^ B, Antona; AR, Barrio; A, Gascó; A, Pinar; M, González-Pérez; MC, Puell (April 2018). "Symptoms associated with reading from a smartphone in conditions of light and dark". doi:10.1016/j.apergo.2017.10.014. Cite journal requires `\|journal=` (help) 4. ^ S, Jaiswal; L, Asper; J, Long; A, Lee; K, Harrison; B, Golebiowski (September 2019). "Ocular and visual discomfort associated with smartphones, tablets and computers: what we do and do not know". 102(5): 463–477. doi:10.1111/cxo.12851. Cite journal requires `\|journal=` (help) 5. ^ S, Lertwisuttipaiboon; T, Pumpaibool; KJ, Neeser; N, Kasetsuwan (May 2017). "Effectiveness of a participatory eye care program in reducing eye strain among staff computer users in Thailand". Risk Manag Healthc Policy. doi:10.2147/RMHP.S134940. 6. ^ CC, Han; R, Liu; RR, Liu; ZH, Zhu; RB, Yu; L, Ma (18 October 2013). "Prevalence of asthenopia and its risk factors in Chinese college students". Int J Ophthalmol. doi:10.3980/j.issn.2222-3959. ## External links[edit] Classification D * ICD-10: H53.1 * ICD-9-CM: 368.13 * MeSH: D001248 Look up asthenopia in Wiktionary, the free dictionary. * v * t * e * Diseases of the human eye Adnexa Eyelid Inflammation * Stye * Chalazion * Blepharitis * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * Ankyloblepharon Eyelash * Trichiasis * Madarosis Lacrimal apparatus * Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia Orbit * Exophthalmos * Enophthalmos * Orbital cellulitis * Orbital lymphoma * Periorbital cellulitis Conjunctiva * Conjunctivitis * allergic * Pterygium * Pseudopterygium * Pinguecula * Subconjunctival hemorrhage Globe Fibrous tunic Sclera * Scleritis * Episcleritis Cornea * Keratitis * herpetic * acanthamoebic * fungal * Exposure * Photokeratitis * Corneal ulcer * Thygeson's superficial punctate keratopathy * Corneal dystrophy * Fuchs' * Meesmann * Corneal ectasia * Keratoconus * Pellucid marginal degeneration * Keratoglobus * Terrien's marginal degeneration * Post-LASIK ectasia * Keratoconjunctivitis * sicca * Corneal opacity * Corneal neovascularization * Kayser–Fleischer ring * Haab's striae * Arcus senilis * Band keratopathy Vascular tunic * Iris * Ciliary body * Uveitis * Intermediate uveitis * Hyphema * Rubeosis iridis * Persistent pupillary membrane * Iridodialysis * Synechia Choroid * Choroideremia * Choroiditis * Chorioretinitis Lens * Cataract * Congenital cataract * Childhood cataract * Aphakia * Ectopia lentis Retina * Retinitis * Chorioretinitis * Cytomegalovirus retinitis * Retinal detachment * Retinoschisis * Ocular ischemic syndrome / Central retinal vein occlusion * Central retinal artery occlusion * Branch retinal artery occlusion * Retinopathy * diabetic * hypertensive * Purtscher's * of prematurity * Bietti's crystalline dystrophy * Coats' disease * Sickle cell * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane (Macular pucker) * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy Other * Glaucoma / Ocular hypertension / Primary juvenile glaucoma * Floater * Leber's hereditary optic neuropathy * Red eye * Globe rupture * Keratomycosis * Phthisis bulbi * Persistent fetal vasculature / Persistent hyperplastic primary vitreous * Persistent tunica vasculosa lentis * Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc * Optic neuritis * optic papillitis * Papilledema * Foster Kennedy syndrome * Optic atrophy * Optic disc drusen Optic neuropathy * Ischemic * anterior (AION) * posterior (PION) * Kjer's * Leber's hereditary * Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus * Ophthalmoparesis * Chronic progressive external ophthalmoplegia * Kearns–Sayre syndrome palsies * Oculomotor (III) * Fourth-nerve (IV) * Sixth-nerve (VI) Other strabismus * Esotropia / Exotropia * Hypertropia * Heterophoria * Esophoria * Exophoria * Cyclotropia * Brown's syndrome * Duane syndrome Other binocular * Conjugate gaze palsy * Convergence insufficiency * Internuclear ophthalmoplegia * One and a half syndrome Refraction * Refractive error * Hyperopia * Myopia * Astigmatism * Anisometropia / Aniseikonia * Presbyopia Vision disorders Blindness * Amblyopia * Leber's congenital amaurosis * Diplopia * Scotoma * Color blindness * Achromatopsia * Dichromacy * Monochromacy * Nyctalopia * Oguchi disease * Blindness / Vision loss / Visual impairment Anopsia * Hemianopsia * binasal * bitemporal * homonymous * Quadrantanopia subjective * Asthenopia * Hemeralopia * Photophobia * Scintillating scotoma Pupil * Anisocoria * Argyll Robertson pupil * Marcus Gunn pupil * Adie syndrome * Miosis * Mydriasis * Cycloplegia * Parinaud's syndrome Other * Nystagmus * Childhood blindness Infections * Trachoma * Onchocerciasis [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Eye strain	c0004095	26,131	wikipedia	https://en.wikipedia.org/wiki/Eye_strain	2021-01-18T19:00:14	{"mesh": ["D001248"], "umls": ["C0004095"], "icd-9": ["368.13"], "wikidata": ["Q749159"]}
Bone loss from aggressive periodontitis that led to an exposed furcation on an upper molar. In health, the bone exists about a millimeter and a half away from the cementoenamel junction, which is the line that separates the crown from the root trunk (the line can be seen clearly in the photo). Evidence of furcal bone loss on #18 (lower left permanent second molar), along with a mesial vertical defect on the same tooth. The bent "stick" on the left of the tooth is a piece of gutta percha being used to trace the defect. In dentistry, a furcation defect is bone loss, usually a result of periodontal disease, affecting the base of the root trunk of a tooth where two or more roots meet (bifurcation or trifurcation). The extent and configuration of the defect are factors in both diagnosis and treatment planning.[1] A tooth with a furcation defect typically possessed a more diminished prognosis owing to the difficulty of rendering the furcation area free from periodontal pathogens. For this reason, surgical periodontal treatment may be considered to either close the furcation defect with grafting procedures or allow greater access to the furcation defect for improved oral hygiene. ## Contents * 1 Root trunk length * 2 Furcation defect classification * 3 Diagnosis * 4 Treatment * 5 References ## Root trunk length[edit] The distance between the cementoenamel junction (CEJ) and the furcation entrance is called the root trunk length. This distance plays an important role in furcation defects because the deeper the furcation entrance is within the bone, the more bone loss necessary before the furcation becomes exposed. For mandibular first molars, the mean root trunk length is 3 mm on the buccal aspect and 4 mm on the lingual aspect.[2] The root trunk lengths for mandibular second and third molars are either the same or slightly greater than for first molars, although the roots may be fused. For maxillary first molars, the mean root trunk length is 3-4 mm on the buccal aspect, and 4-5 mm on the mesial aspect and 5-6 mm on the distal aspect.[2] As with mandibular molars, the root trunk lengths for maxillary second and third molars are either the same or slightly greater than for first molars, although the roots may be fused. For maxillary first premolars, there is a bifurcation 40% of the time and the mean root trunk length is 8 mm from both mesial and distal.[2] ## Furcation defect classification[edit] Because of its importance in the assessment of periodontal disease, a number of methods of classification have evolved to measure and record the severity of furcation involvement; most of the indices are based on horizontal measurements of attachment loss in the furcation. In 1953, Irving Glickman graded furcation involvement into the following four classes:[3] * Grade I \- Incipient furcation involvement, with an associated periodontal pocket remaining coronal to the alveolar bone. The pocket primarily affects the soft tissue. Early bone loss may have occurred but is rarely evident radiographically. * Grade II \- There is a definite horizontal component to the bone loss between roots resulting in a probeable area, but sufficient bone still remains attached to the tooth (at the dome of the furcation) so that multiple areas of furcal bone loss, if present, do not communicate. * Grade III \- Bone is no longer attached to the furcation of the tooth, essentially resulting in a through-and-through tunnel. Because of an angle in this tunnel, however, the furcation may not be able to be probed in its entirety; if cumulative measurements from different sides equal or exceed the width of the tooth, however, a grade III defect may be assumed. In early grade III lesions, soft tissue may still occlude the furcation involvement, thus, making it difficult to detect. * Grade IV \- Essentially a super grade III lesion, grade IV describes a through-and-through lesion that has sustained enough bone loss to make it completely probeable. In 2000, Fedi, et al. modified Glickman's classification to include two degrees of a grade II furcation defect:[4] * Grade II degree I \- exists when furcal bone loss possesses a vertical component of >1 but <3mm. * Grade II degree II \- exists when furcal bone loss possesses a vertical component of >3mm, but still does not communicate through-and-through. In 1975, Sven-Erik Hamp, together with Lindhe and Sture Nyman, classified furcation defects by their probeable depth. * Class I \- Furcation defect is less than 3 mm in depth. * Class II \- Furcation defect is at least 3 mm in depth (and thus, in general, surpassing half of the buccolingual thickness of the tooth) but not through-and-through (i.e. there is still some interradicular bone attached to the angle of the furcation. The furcation defect is thus a cul-de-sac. * Class III \- Furcation defect encompassing the entire width of the tooth so that no bone is attached to the angle of the furcation.[4] ## Diagnosis[edit] Nabers probe[5] is used to check for furcation involvement clinically. Recently, cone beam computerised technology (CBCT) has also be used to detect furcation.[6] Periapical and interproximal intraoral radiographs[5] can help diagnosing and locating the furcation. The location and severity of furcation should be recorded in patient’s notes. Only multirooted teeth have furcation. Therefore, upper first premolar, maxillary and mandibular molars may be involved. Upper premolars have one buccal and one palatal root. Furcation involvement should be checked from the mesial and the distal aspects of the tooth. Maxillary molars have three roots, a mesio-buccal root, disto-buccal root and a palatal root. Thus, check for furcation from buccal, mesio-palatal and disto-palatal aspects. Mandibular molars have one mesial and one distal root, and so, check for involvement from buccal and lingual aspects. ## Treatment[edit] The treatment aims are to eliminate the bacteria from the exposed surface of the root(s) and to establish the anatomy of the tooth, so that better plaque control can be achieved. Treatment plans for patients differ depending on the local and anatomical factors. For Grade I furcation, scaling and polishing,[6][7] root surface debridement or furcationplasty could be done if suitable. For Grade II furcation, furcationplasty, open debridement,[6][8] tunnel preparation,[6] root resection,[6] extraction,[6] guided tissue regeneration (GTR)[8][6][7] or enamel matrix derivative could be considered. As for Grade III furcation, open debridement,[6][8] tunnel preparation,[6] root resection,[6][7] GTR,[8][6] or tooth extraction[6] could be performed if appropriate. Tooth extraction is usually considered if there is extensive loss of attachment or if other treatments will not obtain good result (i.e. achieving a nice gingival contour to allow good plaque control). ## References[edit] 1. ^ Ammons WF, Harrington GW: Furcation, The Problem and Its Management. In Newman, Takei, Carranza, editors: Carranza's Clinical Periodontology, 9th Edition. Philadelphia: W.B. Saunders Co. 2002. page 826-7. 2. ^ a b c Carnavale F, Pontoriero R, Lindhe, J: Treatment of Furcation-Involved Teeth. In Lindhe, Karring, Lang, editors: Clinical Periodontology and Implant Dentistry, 4th Edition. London: Blackwell Munksgaard. 2003. pages 707-8. 3. ^ Knowles J, Burgett F, Nissle R: Results of periodontal treatment related to pocket depth and attachment level, Eight years. J Perio 1979; 50:225. 4. ^ a b Vandersall DC: Concise Encyclopedia of Periodontology Blackwell Munksgaard 2007 5. ^ a b Anuj Singh Parihar; Vartika Katoch (January–March 2015). "Furcation Involvement & its Treatment: A Review" (PDF). Journal of Advanced Medical and Dental Sciences Research. 3. Archived from the original (PDF) on 2017-03-26. Retrieved 2019-12-22. 6. ^ a b c d e f g h i j k l Umetsubo, Otavio Shoiti; Gaia, Bruno Felipe; Costa, Felipe Ferreira; Cavalcanti, Marcelo Gusmão Paraiso (2012-08-01). "Detection of simulated incipient furcation involvement by CBCT: an in vitro study using pig mandibles". Brazilian Oral Research. 26 (4): 341–347. doi:10.1590/S1806-83242012000400010. ISSN 1806-8324. PMID 22790499. 7. ^ a b c "Treatment of Furcation Defects". www.drbui.com. Retrieved 2017-03-25. 8. ^ a b c d Aichelmann-Reidy, Mary E.; Avila-Ortiz, Gustavo; Klokkevold, Perry R.; Murphy, Kevin G.; Rosen, Paul S.; Schallhorn, Robert G.; Sculean, Anton; Wang, Hom-Lay; Reddy, Michael S. (2015). "Periodontal Regeneration — Furcation Defects: Practical Applications From the AAP Regeneration Workshop" (PDF). Clinical Advances in Periodontics. 5 (1): 30–39. doi:10.1902/cap.2015.140068. hdl:2027.42/141344. * v * t * e Dentistry involving supporting structures of teeth (Periodontology) Anatomy * Periodontium * Alveolar bone * Biologic width * Bundle bone * Cementum * Free gingival margin * Gingiva * Gingival fibers * Gingival sulcus * Junctional epithelium * Mucogingival junction * Periodontal ligament * Sulcular epithelium * Stippling Disease Diagnoses * Chronic periodontitis * Localized aggressive periodontitis * Generalized aggressive periodontitis * Periodontitis as a manifestation of systemic disease * Periodontosis * Necrotizing periodontal diseases * Abscesses of the periodontium * Combined periodontic-endodontic lesions Infection * A. actinomycetemcomitans * Capnocytophaga sp. * F. nucleatum * P. gingivalis * P. intermedia * T. forsythia * T. denticola * Red complex * Entamoeba gingivalis (amoebic) * Trichomonas tenax Other * Calculus * Clinical attachment loss * Edentulism * Fremitus * Furcation defect * Gingival enlargement * Gingival pocket * Gingival recession * Gingivitis * Horizontal bony defect * Linear gingival erythema * Occlusal trauma * Periodontal pocket * Periodontal disease * Periodontitis * Plaque * Vertical bony defect Treatment and prevention * Periodontal examination * Ante's law * Brushing * Bleeding on probing * Chlorhexidine gluconate * Flossing * Hydrogen peroxide * Mouthwash * Oral hygiene * Tetracycline * Triclosan * Host modulatory therapy Treatment Conventional therapy * Debridement * Scaling and root planing * Full mouth disinfection * Full mouth ultrasonic debridement Surgery * Apically positioned flap * Bone graft * Coronally positioned flap * Crown lengthening * Free gingival graft * Gingival grafting * Gingivectomy * Guided bone regeneration * Guided tissue regeneration * Enamel matrix derivative * Implant placement * Lateral pedicle graft * Open flap debridement * Pocket reduction surgery * Socket preservation * Sinus lift * Subepithelial connective tissue graft * Tools * Curette * Membrane * Probe * Scaler Important personalities * Tomas Albrektsson * Frank Beube * Per-Ingvar Brånemark * Robert Gottsegen * Gary Greenstein * Jan Lindhe * Brian Mealey * Preston D. Miller * Willoughby D. Miller * Carl E. Misch * John Mankey Riggs * Jay Seibert * Jørgen Slots * Paul Roscoe Stillman * Dennis P. Tarnow * Hom-Lay Wang * James Leon Williams * W. J. Younger Other specialties * Endodontology * Orthodontology * Prosthodontology [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Furcation defect	c0206306	26,132	wikipedia	https://en.wikipedia.org/wiki/Furcation_defect	2021-01-18T18:32:00	{"mesh": ["D017823"], "wikidata": ["Q3090996"]}
Gutenberger et al. (1970) described a kindred in which 10 males and 2 females had thrombocytopenia apparently as a result of reduced platelet production. Eight of the thrombocytopenic persons had elevated IgA levels in the serum. Renal biopsy in 3 thrombocytopenic brothers with hematuria showed varying degrees of glomerulonephritis. The 2 thrombocytopenic women were mothers of affected sons. One of these 2 women also had elevated IgA. The authors concluded that the disorder is X-linked and probably distinct from the Wiskott-Aldrich syndrome (301000) and from 'simple' X-linked thrombocytopenia (313900). GU \- Renal disease \- Glomerulonephritis Inheritance \- X-linked Lab \- Elevated serum IgA \- Hematuria Heme \- Bleeding diathesis \- Thrombocytopenia ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE	c1839162	26,133	omim	https://www.omim.org/entry/314000	2019-09-22T16:17:07	{"mesh": ["C564051"], "omim": ["314000"]}
Levamisole Induced Necrosis Syndrome (LINES) is a complication of adulterated cocaine recognized in 2011, caused by the use of levamisole as a cutting agent for cocaine. Spontaneous bruising of the earlobes is considered characteristic of this condition, but lesions can present anywhere on the body. ## Contents * 1 Description * 1.1 Levamisole * 1.2 Levamisole toxicity in cocaine supply * 2 Diagnosis * 2.1 Initial case report * 3 Treatment * 4 History * 5 References ## Description[edit] ### Levamisole[edit] Levamisole, a levo rotatory isomer of imidazothiazole, was previously approved as an antihelminthic and immunomodulator. It experienced some usage for the treatment of rheumatoid arthritis but was primarily used for the treatment of parasitic infections. It was withdrawn from the U.S. market in early 2000 because of adverse health events.[1] However, it is still approved in the United States as an antihelminthic agent in veterinary medicine.[2] ### Levamisole toxicity in cocaine supply[edit] Levamisole has become a common additive to illicit cocaine. It is thought to intensify the “high” by releasing dopamine in the brain, acts as a bulking agent, and is a difficult adulterant to recognize. Potential risks of levamisole-laced cocaine include neutropenia, agranulocytosis, arthralgias, retiform purpura, skin necrosis, and fever.[3][4] The skin necrosis associated with levamisole toxicity ranges from leukocytoclastic vasculitis to occlusive vasculopathy. Several cases of severe agranulocytosis associated with cocaine use have been reported since 2006. With the recently recognized dermal disease, the face and ears are commonly affected, especially the bilateral helices and cheeks. However, there have also been case reports of involvement of the abdomen, chest, lower buttocks and legs.[4][5] ## Diagnosis[edit] ### Initial case report[edit] LINES was first described in a 54-year-old male with history of hypothyroidism who presented to an urgent care facility with bilateral axillary adenopathy and severe malaise. Incision and drainage of the nodes was performed and he was discharged home with sulfamethoxazole/trimethoprim for presumed Methicillin-resistant Staphylococcus aureus (MRSA) infection.[citation needed] The patient subsequently developed a temperature of 37.5°C, expressed rigors, and night sweats. He returned to the ED the next day and on further history admitted to 3 weeks of “snorting 6-8 lines of coke a day” and smoking marijuana every evening to “come down.” He was hospitalized and treated with cefepime, doxycycline, and fluconazole empirically. The next day erythematous painful papules appeared on his trunk, arms, face, and ears. Blood cultures were negative. There was prominent necrosis of the malar region, nose, and lips with complete sparing of the back. Skin biopsy revealed extensive small vessel thrombosis throughout the superficial and deep dermal plexuses with perivascular mononuclear inflammatory infiltrate and a few neutrophils surrounding the vessels. ESR was elevated at 35 mm/hour; cardiolipin IgM was weakly positive at 16.3;C4 was decreased at 10 mg/dl; antinuclear antibodies were negative and p-ANCA was reactive. Coagulation studies were within normal limits. There was an elevated d-dimer of 17.54 mg/mL and platelets were slightly decreased. The patient’s urine drug screen was positive for cannabis but not cocaine.[citation needed] ## Treatment[edit] Methylprednisolone was started and wound care was initiated. Epidermal necrosis then evolved to myonecrosis extending from midthigh to the foot which necessitated below knee amputation of the right extremity. The patient also required allografts to his chest and abdomen and autografts to his face and left lower extremity. [6] ## History[edit] In 2011 a team of physicians from University of South Florida Morsani College of Medicine in Tampa, FL (under the attending service of John T. Sinnott, MD FACP) recognized an association of skin necrosis with use of levamisole adulterated cocaine. The mnemonic LINES (Levamisole-Induced NEcrosis Syndrome) was coined to name the syndrome because the name was descriptive, reminds one of a “line” of cocaine, and is easily remembered. Thus it is self exemplifying.[6] ## References[edit] 1. ^ Larocque, Alexandre; Hoffman, Robert S. (2012). "Levamisole in cocaine: Unexpected news from an old acquaintance". Clinical Toxicology. 50 (4): 231–241. doi:10.3109/15563650.2012.665455. PMID 22455354. 2. ^ Caldwell, K. B.; Graham, O. Z.; Arnold, J. J. (2012). "Agranulocytosis from Levamisole-Adulterated Cocaine". The Journal of the American Board of Family Medicine. 25 (4): 528–530. doi:10.3122/jabfm.2012.04.110177. PMID 22773721. 3. ^ Chang, A.; Osterloh, J.; Thomas, J. (2010). "Levamisole: A Dangerous New Cocaine Adulterant". Clinical Pharmacology & Therapeutics. 88 (3): 408–411. doi:10.1038/clpt.2010.156. PMID 20668440. 4. ^ a b Morris, G. W.; Mason, B. C.; Harris Sprunger, R.; Hake Harris, H.; White, L. A.; Patterson, D. A. (2012). "Levamisole-Adulterated Cocaine: A Case Series". The Journal of the American Board of Family Medicine. 25 (4): 531–535. doi:10.3122/jabfm.2012.04.110287. PMID 22773722. 5. ^ Lee, Kachiu C.; Ladizinski, Barry; Federman, Daniel G. (2012). "Complications Associated with Use of Levamisole-Contaminated Cocaine: An Emerging Public Health Challenge". Mayo Clinic Proceedings. 87 (6): 581–586. doi:10.1016/j.mayocp.2012.03.010. PMC 3498128. PMID 22677078. 6. ^ a b Mouzakis, J.; Somboonwit, C.; Lakshmi, S.; Rumbak, M.; Sinnott, J.; Cherpelis, B.; Keshishian, J. (2011). "Levamisole induced necrosis of the skin and neutropenia following intranasal cocaine use: A newly recognized syndrome". Journal of Drugs in Dermatology : Jdd. 10 (10): 1204–7. PMID 21968674. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Levamisole-induced vasculitis	c0569490	26,134	wikipedia	https://en.wikipedia.org/wiki/Levamisole-induced_vasculitis	2021-01-18T18:50:22	{"umls": ["C0569490"], "wikidata": ["Q6534830"]}
Epileptic spasms Other namesInfantile spasms, Juvenile spasms, or West syndrome[1] SpecialtyNeurology Epileptic spasms, is an uncommon-to-rare epileptic disorder in infants, children and adults. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841.[2] The original case actually described his own son, James Edwin West (1840–1860).[3] Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression[4] – although the international definition requires only two out of these three elements. The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. There are various causes. The syndrome is often caused by an organic brain dysfunction whose origins may be prenatal, perinatal (caused during birth) or postnatal. ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 Symptomatic * 2.1.1 Down syndrome * 2.2 Cryptogenic * 2.3 Genetic * 2.4 Idiopathic * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 Epidemiology * 7 History * 8 See also * 9 References * 10 External links ## Signs and symptoms[edit] The epileptic seizures which can be observed in infants with West syndrome fall into three categories, collectively known as infantile spasms. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:[citation needed] * Lightning attacks: Sudden, severe myoclonic convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generally more severe than extensor ones). * Nodding attacks: Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward. * Salaam or jackknife attacks: a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the Muslim ceremonial greeting (Salaam), from which this type of attack derives its name. ## Cause[edit] It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is conjectured that it is a malfunction of neurotransmitter function, or more precisely, a malfunction in the regulation of the GABA transmission process. Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone (CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat West syndrome.[citation needed] Cases of epilepsy have been historically divided into three different groups: symptomatic, cryptogenic, and unknown. The International League Against Epilepsy (ILAE) recommended in 2011 to abandon these terms[5][6] for reasons of clarity and instead try to place individual cases into one of the following 3 groups: genetic, structural/metabolic, and unknown. The new terms are more immediately clear in their meaning, except that the structural and metabolic group includes cases that have a genetic component that does not always directly lead to the condition. Only the genetic grouping has a known direct genetic cause. "Unknown" cases may be of unknown genetic, structural, metabolic, or other unknown cause.[citation needed] The old terminology was defined by the ILAE as follows:[citation needed] * symptomatic: the epilepsy is the consequence of a known or suspected disorder of the central nervous system. * cryptogenic: this refers to a disorder whose cause is hidden or occult. Cryptogenic epilepsies are presumed to be symptomatic. * idiopathic: there is no underlying cause other than a possible hereditary predisposition. The remainder of this section will refer to the older terminology. ### Symptomatic[edit] If a cause presents itself, the syndrome is referred to as symptomatic West syndrome, as the attacks manifest as a symptom of another problem. Almost any cause of brain damage could be associated, and these are divided into prenatal, perinatal, and post-natal. The following is a partial list:[citation needed] * In around one third of the children, there is evidence of a profound organic disorder of the brain. This includes:[citation needed] * microcephaly * cortical dysplasia * cerebral atrophy * lissencephaly * bacterial meningitis * phakomatoses (e.g. tuberous sclerosis) * Aicardi syndrome * cephalhematoma and * vascular malformation. * Furthermore, other causes increasingly being named in the literature are: * Incontinentia pigmenti * Foix-Chavany-Marie syndrome * Patau syndrome (trisomy 13) * Sturge-Weber syndrome * neurometabolic diseases * congential infections (e.g. Cytomegalovirus) * hypoglycemia * brain damage due to asphyxiation or hypoxia (lack of oxygen, e.g. during birth), periventricular leukomalacia, cephalhematoma, cerebrovascular accident or brain damage of various types as well as that caused by premature birth. #### Down syndrome[edit] West syndrome appears in 1% to 5% of infants with Down syndrome. This form of epilepsy is relatively difficult to treat in children who do not have the chromosomal abnormalities involved in Down syndrome. However, in children with Down syndrome, the syndrome is often far more mild, and the children often react better to medication. The German Down Syndrom InfoCenter noted in 2003 that what was normally a serious epilepsy was in such cases often a relatively benign one.[citation needed] EEG records for children with Down syndrome are often more symmetrical with fewer unusual findings. Although not all children can become entirely free from attacks with medication, children with Down syndrome are less likely to go on to develop Lennox-Gastaut syndrome or other forms of epilepsy than those without additional hereditary material on the 21st chromosome. The reason why it is easier to treat children with Down syndrome is not known.[citation needed] If, however, a child with Down syndrome has seizures that are difficult to control, the child should be assessed for autistic spectrum disorder.[7] ### Cryptogenic[edit] When a direct cause cannot be determined but the child has other neurological disorder, the case is referred to as cryptogenic West syndrome. The cryptogenic group is often considered idiopathic while referred to as "cryptogenic".[citation needed] Sometimes multiple children within the same family develop West syndrome. In this case, it is also referred to as cryptogenic, in which genetic and sometimes hereditary influences play a role. There are known cases in which West syndrome appears in successive generations in boys; this has to do with X-chromosomal heredity.[citation needed] ### Genetic[edit] Mutations in several genes have been associated with West syndrome. These include the Aristaless related homeobox (ARX) and cyclin dependent kinase like 5 (CDKL5) genes.[8] The ARX gene in particular seems to be responsible for at least some of the X linked cases.[9] Variants in the KCNT1 gene (also known as SLACK potassium ion channel gene) can result in West syndrome https://www.ncbi.nlm.nih.gov/books/NBK525917/ ### Idiopathic[edit] Occasionally the syndrome is referred to as idiopathic West syndrome, when a cause cannot be determined. Important diagnostic criteria are:[citation needed] * Regular development until the onset of the attacks or before the beginning of the therapy * no pathological findings in neurological or neuroradiological studies * no evidence of a trigger for the spasms Those are becoming rare due to modern medicine. ## Diagnosis[edit] Diagnosis can be made by EEG. In case of epileptic spasms, EEG shows typical hypsarrhythmia patterns.[citation needed] ## Treatment[edit] As of 2017, data on optimal treatment was limited.[10] Therapies with hormones is the standard of care, namely adrenocorticotrophic hormone (ACTH), or oral corticosteroids such as prednisone.[10] Vigabatrin is also a common consideration, though there is a risk of visual field loss with long term use.[10] The high cost of ACTH leads doctors to avoid it in the US; higher dose prednisone appears to generate equivalent outcomes.[10] As of 2017 data from clinical trials of the ketogenic diet for treating infantile spams was inconsistent; most trials were as a second-line therapy after failure of drug treatment, and as of 2017 it had not been explored as a first line treatment in an adequately designed clinical trial.[10] Epilepsy surgery is recommended in patients with seizures arising from a restricted region. [11][12] ## Prognosis[edit] It is not possible to make a generalised prognosis for development due to the variability of causes, as mentioned above, the differing types of symptoms and cause. Each case must be considered individually.[citation needed] The prognosis for children with idiopathic West syndrome are mostly more positive than for those with the cryptogenic or symptomatic forms. Idiopathic cases are less likely to show signs of developmental problems before the attacks begin, the attacks can often be treated more easily and effectively and there is a lower relapse rate. Children with this form of the syndrome are less likely to go on to develop other forms of epilepsy; around two in every five children develop at the same rate as healthy children.[citation needed] In other cases, however, treatment of West syndrome is relatively difficult and the results of therapy often dissatisfying; for children with symptomatic and cryptogenic West syndrome, the prognosis is generally not positive, especially when they prove resistant to therapy.[citation needed] Statistically, 5 out of every 100 children with West syndrome do not survive beyond five years of age, in some cases due to the cause of the syndrome, in others for reasons related to their medication. Only less than half of all children can become entirely free from attacks with the help of medication. Statistics show that treatment produces a satisfactory result in around three out of ten cases, with only one in every 25 children's cognitive and motoric development developing more or less normally.[citation needed] A large proportion (up to 90%) of children suffer severe physical and cognitive impairments, even when treatment for the attacks is successful. This is not usually because of the epileptic fits, but rather because of the causes behind them (cerebral anomalies or their location or degree of severity). Severe, frequent attacks can (further) damage the brain.[citation needed] Permanent damage often associated with West syndrome in the literature include cognitive disabilities, learning difficulties and behavioural problems, cerebral palsy (up to 5 out of 10 children), psychological disorders and often autism (in around 3 out of 10 children). Once more, the cause of each individual case of West syndrome must be considered when debating cause and effect.[citation needed] As many as 6 out of 10 children with West syndrome suffer from epilepsy later in life. Sometimes West syndrome turns into a focal or other generalised epilepsy. Around half of all children develop Lennox-Gastaut syndrome.[citation needed] ## Epidemiology[edit] Incidence is around 1:3200 to 1:3500 of live births. Statistically, boys are more likely to be affected than girls at a ratio of around 3:2.[13] In 9 out of every 10 children affected, the spasms appear for the first time between the third and the twelfth month of age. In rarer cases, spasms may occur in the first two months or during the second to fourth year of age.[citation needed] ## History[edit] West syndrome was named after the English doctor and surgeon William James West (1793–1848), who lived in Tonbridge. In 1841 he observed this type of epilepsy in his own son, James E West, who was approximately four months old at the time. He published his observations from a scientific perspective in an article in The Lancet. He named the seizures "Salaam Tics" at the time.[citation needed] ## See also[edit] * Epilepsy Phenome/Genome Project ## References[edit] 1. ^ Elaine Wyllie; Ajay Gupta; Deepak K. Lachhwani (2006). The Treatment of Epilepsy: Principles & Practice (4th ed.). Lippincott Williams & Wilkins. pp. 333–. ISBN 978-0-7817-4995-4. 2. ^ West, W. J. (1841). "On a Peculiar Form of Infantile Convulsions". The Lancet. 35 (911): 724–725. doi:10.1016/S0140-6736(00)40184-4. 3. ^ "West's syndrome". Whonamedit? A dictionary of medical eponyms. Ole Daniel Enersen. 4. ^ "NINDS Infantile Spasms Information Page". Retrieved January 10, 2012. 5. ^ http://www.ilae.org/Visitors/Centre/ctf/documents/NewConcepts-Classification_2011_000.pdf 6. ^ http://www.ilae.org/Visitors/Centre/ctf/CTFoverview.cfm 7. ^ Goldberg-Stern et al., 2001 & Eisermann et al. 2003 in: American Journal of Medical Genetics part C, 2006, S. 163: Neurobehavioral disorders in children, adolescents and young adults with down syndrome 8. ^ Bahi-Buisson N, Bienvenu T (2012) CDKL5-related disorders: from clinical description to molecular genetics. Mol Syndromol 2(3-5):137-152 9. ^ Sherr EH (2003) The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 15(6):567-571 10. ^ a b c d e Wilmshurst JM, Ibekwe RC, O'Callaghan FJK (January 2017). "Epileptic spasms - 175 years on: Trying to teach an old dog new tricks" (PDF). Seizure. 44: 81–86. doi:10.1016/j.seizure.2016.11.021. PMID 27989601. S2CID 4977080. 11. ^ Asano, E; Juhász, C; Shah, A; Muzik, O; Chugani, DC; Shah, J; Sood, S; Chugani, HT (2005). "Origin and propagation of epileptic spasms delineated on electrocorticography". Epilepsia. 46 (7): 1086–97. doi:10.1111/j.1528-1167.2005.05205.x. PMC 1360692. PMID 16026561. 12. ^ Chugani, HT; Ilyas, M; Kumar, A; Juhász, C; Kupsky, WJ; Sood, S; Asano, E (2015). "Surgical treatment for refractory epileptic spasms: The Detroit series". Epilepsia. 56 (12): 1941–9. doi:10.1111/epi.13221. PMC 4679547. PMID 26522016. 13. ^ Johnston, Michael V.; Adams, Harold P.; Fatemi, Ali (2016-08-18). Neurobiology of Disease. Oxford University Press. ISBN 9780190219086. ## External links[edit] Classification D * ICD-10: G40.4 * ICD-9-CM: 345.6 * OMIM: 308350 * MeSH: D013036 * DiseasesDB: 6788 External resources * eMedicine: neuro/171 Much of this article is translated from the German Wikipedia article * v * t * e Seizures and epilepsy Basics * Seizure types * Aura (warning sign) * Postictal state * Epileptogenesis * Neonatal seizure * Epilepsy in children Management * Anticonvulsants * Investigations * Electroencephalography * Epileptologist Personal issues * Epilepsy and driving * Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised * Tonic–clonic * Absence seizure * Atonic seizure * Automatism * Benign familial neonatal seizures * Lennox–Gastaut syndrome * Myoclonic astatic epilepsy * Epileptic spasms Status epilepticus * Epilepsia partialis continua * Complex partial status epilepticus Myoclonic epilepsy * Progressive myoclonus epilepsy * Dentatorubral–pallidoluysian atrophy * Unverricht–Lundborg disease * MERRF syndrome * Lafora disease * Juvenile myoclonic epilepsy Non-epileptic seizure * Febrile seizure * Psychogenic non-epileptic seizure Related disorders * Sudden unexpected death in epilepsy * Todd's paresis * Landau–Kleffner syndrome * Epilepsy in animals Organizations * Citizens United for Research in Epilepsy (US) * Epilepsy Action (UK) * Epilepsy Action Australia * Epilepsy Foundation (US) * Epilepsy Outlook (UK) * Epilepsy Research UK * Epilepsy Society (UK) [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Epileptic spasms	c0037769	26,135	wikipedia	https://en.wikipedia.org/wiki/Epileptic_spasms	2021-01-18T18:58:15	{"gard": ["7887"], "mesh": ["D013036"], "icd-9": ["345.6"], "icd-10": ["G40.4"], "orphanet": ["3451"], "wikidata": ["Q1041258"]}
A number sign (#) is used with this entry because the disorder is caused by mutation in the gene encoding short-chain acyl-CoA dehydrogenase (ACADS; 606885). Description SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by Shirao et al., 2010). Clinical Features Two distinct clinical phenotypes of hereditary short-chain acyl-CoA dehydrogenase deficiency have been identified. One type has been observed in infants with acute acidosis and muscle weakness; the other has been observed in middle-aged patients with chronic myopathy. SCAD deficiency is generalized in the former type and localized to skeletal muscles in the latter. Cases with neonatal onset have a variable phenotype that includes metabolic acidosis, failure to thrive, developmental delay, and seizures, as well as myopathy (Roe and Ding, 2001). There are no episodes of nonketotic hypoglycemia, which are characteristic of medium-chain (MCAD; 607008) and very long-chain (VLCAD; 201475) acyl dehydrogenase deficiencies. Amendt et al. (1987) described 2 unrelated patients, both of whom presented with neonatal metabolic acidosis and ethylmalonate excretion. Deficiency of short-chain acyl-CoA dehydrogenase was demonstrated in fibroblasts by both an electron-transfer flavoprotein (ETF)-linked dye-reduction assay and a tritium release ADH assay. Coates et al. (1988) demonstrated deficiency of SCAD in a 2-year-old female whose early postnatal life was complicated by poor feeding, emesis, and failure to thrive. She demonstrated progressive skeletal muscle weakness and developmental delay. Her plasma total carnitine level was low-normal, but was esterified to an abnormal degree. The same was true for skeletal muscle carnitine. Fibroblasts from this patient had 50% of control levels of acyl-CoA dehydrogenase activity towards butyryl-CoA as substrate. All of this residual activity was inhibited by an antibody against medium-chain acyl-CoA dehydrogenase. These data demonstrated that medium-chain acyl-CoA dehydrogenase accounted for 50% of the activity towards the short-chain substrate, butyryl-CoA, under these conditions, but that antibody against that enzyme could be used to unmask the specific and virtually complete deficiency of short-chain acyl-CoA dehydrogenase in this patient. Bhala et al. (1995) summarized the clinical and biochemical features of 6 cases of SCAD deficiency, including the only 4 authentic cases that they were able to identify in the literature. In contrast to MCAD and LCAD deficiency, they found no evidence of secondary carnitine deficiency, and further found that hypoglycemia may not be a prominent clinical feature. All patients with SCAD had neurologic deficits: hypotonia/hypertonia, hyperactivity, and/or developmental delay. Ribes et al. (1998) reported mild or absent clinical manifestations in monozygous twin sisters with SCAD deficiency. One twin developed hypotonia and decreased level of consciousness following an upper respiratory infection at 5 months. The other was essentially asymptomatic. Ethylmalonic acid was persistently, although sometimes only slightly, increased in both. SCAD activity was 25% and 16% of control levels. Immunoblot analysis in cultured skin fibroblasts indicated that SCAD protein was of normal size, but was less than 10% of control cell intensity. Tein et al. (1999) described a novel phenotype of multicore myopathy and ophthalmoplegia (see 255320) in a 13.5-year-old Israeli girl in whom there was no detectable SCAD protein on Western blot analysis. Decreased fetal movements as well as facial weakness and a fish mouth were noted at birth. Hypotonia was observed at 3 months of age. She became wheelchair dependent at age 5 years, with proximal weakness with wasting and contractures, arreflexia, ptosis, progressive external ophthalmoplegia, and cataracts. At age 10 she developed transient heart failure. Intelligence, sensation, cerebellar function, and plantar responses were normal. Gregersen et al. (1998) investigated ethylmalonic aciduria in a Spanish girl and an African American male, as well as in 133 patients with elevated ethylmalonic acid excretion. They concluded that ethylmalonic aciduria, a commonly detected biochemical phenotype, is a complex multifactorial/polygenic condition where, in addition to the emerging role of SCAD susceptibility alleles, other genetic and environmental factors are involved. Corydon et al. (2001) came to the same conclusion based on their study of 10 patients with ethylmalonic aciduria. Tein et al. (2008) reported 10 children of Ashkenazi Jewish descent with variable phenotypic expression of SCAD deficiency. Common clinical features included hypotonia, developmental delay, speech delay, myopathy, lethargy, and feeding difficulties. Muscle biopsy was performed in 3 patients and showed 2 with histologic features of multiminicore myopathy and 1 with lipid storage disease. Laboratory abnormalities included ethylmalonic aciduria and methylsuccinic aciduria, as well as increased serum acyl carnitines. ### Clinical Variability Baerlocher et al. (1997) stated that up until 1996 about 10 patients in whom SCAD enzyme deficiency could be confirmed in fibroblasts had been described. Both the clinical and the biochemical pattern of the disease was heterogeneous, with all patients showing at least neuromuscular signs. Baerlocher et al. (1997) presented the case of a 16-year-old patient with growth failure, muscular wasting, and hypotonia since birth. Turnbull et al. (1984) reported the case of a 53-year-old woman who presented with a lipid-storage myopathy and low concentrations of carnitine in skeletal muscle. Impaired fatty acid oxidation in muscle was found to be caused by deficiency of short-chain acyl-CoA (butyryl-CoA) dehydrogenase activity in mitochondria. The authors suggested that the muscle carnitine deficiency was secondary to this enzyme deficiency and urged that it be considered in other cases of lipid-storage myopathy with carnitine deficiency (212160). Onset of myopathy was at age 46 years. The patient described by Turnbull et al. (1984) had normal SCADH activity in fibroblasts, which raises the possibility that a distinct SCADH isoenzyme exists in mammalian muscle. However, Amendt et al. (1992) found that in mice SCAD is the same in both muscle and fibroblasts. For that reason, Bhala et al. (1995) proposed that the case of Turnbull et al. (1984) was not a primary case of SCAD deficiency but rather a case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, as reported by DiDonato et al. (1989). Pedersen et al. (2008) observed clinical variation among 114 patients with SCAD deficiency ranging in age from 0 to 50 years. Twenty-nine patients (25%) showed some clinical symptoms on the first day of life, 70 (61%) were identified within the first year of life, and only 4 (4%) were more than 10 years of age when diagnosed. The 12 most frequent symptoms were: developmental delay, speech delay, hypotonia, failure to thrive, feeding difficulties, seizures, dysmorphic features, hypoglycemic encephalopathy, microcephaly, optic atrophy, muscular hypertonia, and lethargy. Hierarchical cluster analysis was performed on clinical data from 29 patients presenting with 3 or 4 of the most frequent symptoms and revealed 3 prominent symptom groups: (1) failure to thrive with feeding difficulties and hypotonia as the most characteristic features (23 patients; 20%), (2) developmental delay and seizures (29 patients; 25%), and (3) developmental delay and hypotonia without seizures (34 patients; 30%). A fourth symptom group consisting of 16 patients (14%) showed failure to thrive, developmental delay, and hypotonia. The remaining 8 patients (7%) had a heterogeneous mixture of other symptoms including dysmorphic features, myopathy, cardiomyopathy, hepatic steatosis, respiratory distress, and intrauterine growth retardation, while 4 were reported to have no symptoms. Molecular analysis identified 29 different mutations in the ACADS gene, but there were no clear genotype/phenotype correlations. Pedersen et al. (2008) suggested that pathogenic ACADS protein misfolding is necessary, but not sufficient, for expression of the disease. Shirao et al. (2010) reported unrelated Japanese girls with biochemical evidence of SCAD deficiency detected by newborn screening. However, neither girl had clinical symptoms at age 4 years. Each girl carried compound heterozygous missense mutations in the ACADS gene (606885.0014-606880.0016) that were demonstrated in vitro to have less than 10% residual enzyme activity. Shirao et al. (2010) noted that the genotype/phenotype correlation was unclear. Inheritance SCAD deficiency is an autosomal recessive disorder. Fibroblasts from the parents of the patient reported by Coates et al. (1988) had intermediate levels of activity towards butyryl-CoA, consistent with autosomal recessive inheritance. Diagnosis The definitive diagnostic test for SCAD deficiency is an ETF-linked enzyme assay with butyryl-CoA as a substrate, performed after immunoactivation of MCAD, which has similar activity (Bhala et al., 1995; Tein et al., 1999). Pathogenesis Farnsworth et al. (1990) showed an absence of enzyme protein in skeletal muscle in the patient described by Coates et al. (1988). At least in some children with the severe systemic form of the disorder associated with metabolic acidosis, there is low activity of the enzyme but synthesis of normal-sized enzyme protein and mRNA. Molecular Genetics Naito et al. (1989) studied the mutant SCAD enzyme and cultured fibroblasts from 3 patients with the deficiency. No difference was observed on Southern or Northern blot analysis, suggesting that the defects in these cell lines were caused by point mutation. In a patient with SCAD deficiency, Naito et al. (1989) found evidence of compound heterozygosity for 2 mutations in the ACADS gene (136C-T; 606885.0001 and 319C-T; 606885.0002). Among 10 children of Ashkenazi Jewish descent with SCAD deficiency, Tein et al. (2008) found that 3 were homozygous for the ACADS 319C-T mutation and 7 were compound heterozygous for the 319C-T mutation and the 625G-A (606885.0007) disease susceptibility polymorphism. The highest concentrations of ethylmalonic aciduria were found in those homozygous for the 319C-T mutation. Five presumably unaffected parents were also compound heterozygous for the 319C-T mutation and 625G-A, indicating that this allelic combination is compatible with a milder or asymptomatic phenotype. Tein et al. (2008) noted the highly variable phenotypic manifestations among patients with similar mutations. Genotype/Phenotype Correlations Gregersen et al. (2001) reviewed current understanding of genotype-phenotype relationships in VLCAD (201475), MCAD, and SCAD. They discussed both the structural implications of mutation type and the modulating effect of the mitochondrial protein quality control systems, composed of molecular chaperones and intracellular proteases. The realization that the effect of the monogene, such as disease-causing mutations in these 3 genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations. They stated that the rapid development of mutation detection systems, such as chip technologies, made such profile analyses feasible. Animal Model In the course of screening mutant mice for organic acidurias using gas chromatography-mass spectrometry, Wood et al. (1989) discovered mice with SCAD deficiency. They had severe organic aciduria, excreting ethylmalonic and methylsuccinic acids and N-butyrylglycine, and developed a fatty liver on fasting or dietary fat challenge. After a fast they developed hypoglycemia and elevated urinary and muscle butyrylcarnitine concentrations. The mutation is at the butyryl-CoA dehydrogenase locus (Bcd1, or Acads), located on mouse chromosome 5 (Prochazka and Leiter, 1986). Yamanaka et al. (1992) studied the metabolic characteristics in these mice in a series of experiments using liver perfusion techniques and high pressure liquid chromatography. Studying 3 different cell lines from patients with SCAD deficiency, Amendt et al. (1992) authenticated the SCAD deficiency of the BALB/cByJ (J) mouse as a model of human SCAD deficiency. Both SCAD antigen and SCAD activity are totally lacking. The null allele was mapped to the structural locus for butyryl-CoA dehydrogenase on mouse chromosome 5 (Schiffer et al., 1989). Hinsdale et al. (1993) demonstrated that the null mutation is the result of a 278-bp deletion in the 3-prime end of the structural gene. Two major transcripts are produced in the mutant. One contains intronic sequence due to the absence of splicing, and the other results from missplicing of a normal splice donor site to a cryptic splice acceptor site in the 3-prime terminal exon. Both abnormal transcripts were found to have aberrant stop codons. Armstrong et al. (1993) described the histopathologic changes in the mouse model. INHERITANCE \- Autosomal recessive GROWTH Other \- Chronic failure to thrive HEAD & NECK Face \- Facial muscle weakness Eyes \- External ophthalmoplegia, progressive (rare) CARDIOVASCULAR Heart \- Cardiomyopathy (rare) ABDOMEN Gastrointestinal \- Feeding difficulties SKELETAL \- Contractures Spine \- Scoliosis MUSCLE, SOFT TISSUES \- Hypotonia \- Muscle weakness \- Myopathy \- Multiminicore myopathy \- Lipid storage myopathy NEUROLOGIC Central Nervous System \- Hypotonia \- Developmental delay \- Speech delay \- Lethargy \- Seizures \- White matter abnormalities (uncommon) Behavioral Psychiatric Manifestations \- Psychosis (rare) METABOLIC FEATURES \- Acute metabolic decompensation \- Metabolic acidosis, episodic LABORATORY ABNORMALITIES \- Ethylmalonic aciduria \- Methylsuccinic aciduria \- Decreased SCAD activity \- Increased serum acyl carnitines \- Increased serum butyryl carnitine MISCELLANEOUS \- Onset birth to early childhood \- Highly variable phenotype, ranging from asymptomatic to severe MOLECULAR BASIS \- Caused by mutation in the short chain acyl-CoA dehydrogenase gene (ACADS, 606885.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF	c0342783	26,136	omim	https://www.omim.org/entry/201470	2019-09-22T16:31:28	{"doid": ["0080154"], "mesh": ["C537596"], "omim": ["201470"], "icd-10": ["E71.312"], "orphanet": ["26792"], "synonyms": ["SCADH DEFICIENCY", "Alternative titles", "SCAD DEFICIENCY", "ACADS deficiency", "LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY", "SCAD deficiency", "ACADS DEFICIENCY", "SCADD"], "genereviews": ["NBK63582"]}
Opisthorchiasis SpecialtyInfectious disease Opisthorchiasis is a parasitic disease caused by species in the genus Opisthorchis (specifically, Opisthorchis viverrini and Opisthorchis felineus). Chronic infection may lead to cholangiocarcinoma, a malignant cancer of the bile ducts. Medical care and loss of wages caused by Opisthorchis viverrini in Laos and in Thailand costs about $120 million annually.[1] Infection by Opisthorchis viverrini and other liver flukes in Asia affect the poor and poorest people.[2] Opisthorchiasis is one of foodborne trematode infections (with clonorchiasis, fascioliasis and paragonimiasis)[3] in the World Health Organization's list of neglected tropical diseases.[2] ## Contents * 1 Signs and symptoms * 1.1 Chronic opisthorchiasis and cholangiocarcinoma * 2 Diagnosis * 3 Prevention * 4 Treatment * 5 Epidemiology * 6 Research * 7 References * 8 External links ## Signs and symptoms[edit] Symptoms of opisthorchiasis/clonorchiasis. Symptoms of opisthorchiasis (caused by Opisthorchis spp.) are indistinguishable from clonorchiasis (caused by Clonorchis sinensis).[4] About 80% of infected people have no symptoms, though they can have eosinophilia.[1] Asymptomatic infection can occur when there are less than 1000 eggs in one gram in feces.[1] Infection is considered heavy when there are 10,000-30,000 eggs in one gram of feces.[1] Symptoms of heavier infections with Opisthorchis viverrini may include: diarrhoea, epigastric and upper right quadrant pain, lack of appetite (anorexia), fatigue, yellowing of the eyes and skin (jaundice) and mild fever.[1] These parasites are long-lived and cause heavy chronic infections that may lead to accumulation of fluid in the legs (edema) and in the peritoneal cavity (ascites),[1] enlarged non-functional gall-bladder[1] and also cholangitis, which can lead to periductal fibrosis, cholecystitis and cholelithiasis, obstructive jaundice, hepatomegaly and/or fibrosis of the periportal system.[citation needed] ### Chronic opisthorchiasis and cholangiocarcinoma[edit] Incidence of cholangiocarcinoma and O. viverrini in Thailand from 1990–2001. Both experimental and epidemiological evidence strongly implicates Opisthorchis viverrini infections in the etiology of a malignant cancer of the bile ducts (cholangiocarcinoma) in humans which has a very poor prognosis.[5] Clonorchis sinensis and Opisthorchis viverrini are both categorized by the International Agency for Research on Cancer (IARC) as Group 1 carcinogens.[6] In humans, the onset of cholangiocarcinoma occurs with chronic opisthorchiasis, associated with hepatobiliary damage, inflammation, periductal fibrosis and/or cellular responses to antigens from the infecting fluke.[5] These conditions predispose to cholangiocarcinoma, possibly through an enhanced susceptibility of DNA to damage by carcinogens. Chronic hepatobiliary damage is reported to be multi-factorial and considered to arise from a continued mechanical irritation of the epithelium by the flukes present, particularly via their suckers, metabolites and excreted/secreted antigens as well as immunopathological processes. In silico analyses using techniques of genomics and bioinformatics is unraveling information on molecular mechanisms that may be relevant to the development of cholangiocarcinoma.[7] In regions where Opisthorchis viverrini is highly endemic, the incidence of cholangiocarcinoma is unprecedented.[5] For instance, cholangiocarcinomas represent 15% of primary liver cancer worldwide, but in Thailand's Khon Kaen region, this figure escalates to 90%, the highest recorded incidence of this cancer in the world. Of all cancers worldwide from 2002, 0.02% were cholangiocarcinoma caused by Opisthorchis viverrini.[5] The cancer of the bile ducts caused by opisthorchiasis occur in the ages 25–44 years in Thailand.[8] A few cases have appeared in later life among veterans of the Vietnam war in the United States, who consumed poorly cooked fish from streams in endemic areas near the border of Laos and Vietnam.[9] ## Diagnosis[edit] The medical diagnosis is established by finding eggs of Opisthorchis viverrini in feces[1] using the Kato technique.[8] An antigen 89 kDa of Opisthorchis viverrini can be detected by ELISA test.[1]A PCR test capable of amplifying a segment of the internal transcribed spacer region of ribosomal DNA for the opisthorchiid and heterophyid flukes eggs taken directly from faeces was developed and evaluated in a rural community in central Thailand.[10] The lowest quantity of DNA that could be amplified from individual adults of Opisthorchis viverrini was estimated to 0.6 pg.[10] ## Prevention[edit] Effective prevention could be readily achieved by persuading people to consume cooked fish (via education programs), but the ancient cultural custom to consume raw, undercooked or freshly pickled fish persists in endemic areas. One community health program, known as the "Lawa" model, has achieved success in the Lawa Lakes region south of Khon Kaen.[11] Currently, there is no effective chemotherapy to combat cholangiocarcinoma, such that intervention strategies need to rely on the prevention or treatment of liver fluke infection/disease.[citation needed] Cooking or deep-freezing (-20 °C for 7 days)[12] of food made of fish is sure method of prevention.[1] Methods for prevention of Opisthorchis viverrini in aquaculture fish ponds were proposed by Khamboonruang et al. (1997).[13] ## Treatment[edit] Chloroquine was used unsuccessfully in attempts to treat opisthorchiasis in 1951–1968.[8] Control of opisthorchiasis relies predominantly on antihelminthic treatment with praziquantel. The single dose of praziquantel of 40 mg/kg is effective against opisthorchiasis (and also against schistosomiasis).[8] Despite the efficacy of this compound, the lack of an acquired immunity to infection predisposes humans to reinfections in endemic regions. In addition, under experimental conditions, the short-term treatment of Opisthorchis viverrini-infected hamsters with praziquantel (400 mg per kg of live weight) induced a dispersion of parasite antigens, resulting in adverse immunopathological changes as a result of oxidative and nitrative stresses following re-infection with Opisthorchis viverrini, a process which has been proposed to initiate and/or promote the development of cholangiocarcinoma in humans.[7] Albendazole can be used as an alternative.[14] A randomised-controlled trial published in 2011 showed that the broad-spectrum anti-helminthic, tribendimidine, appears to be at least as efficacious as praziquantel.[15] Artemisinin was also found to have anthelmintic activity against Opisthorchis viverrini.[16] ## Epidemiology[edit] Opisthorchiasis is prevalent where raw cyprinid fishes are a staple of the diet.[17] Prevalence rises with age; children under the age of 5 years are rarely infected by Opisthorchis viverrini. Males may be affected more than females.[18][19] The WHO estimates that foodborne trematodiases (infection by worms or "flukes", mainly Clonorchis, Opisthorchis, Fasciola and Paragonimus species) affect 56 million people worldwide and 750 million are at risk of infection.[20][21] Eighty million are at risk of opisthorchiasis,[22] 67 million from infection with Opisthorchis viverrini in Southeast Asia and 13 million from Opisthorchis felineus in Kazakhstan, Russia including Siberia, and Ukraine.[23] In the lower Mekong River basin, the disease is highly endemic, and more so in lowlands,[17] with a prevalence up to 60% in some areas of northeast Thailand. However, estimates using newer polymerase chain reaction-based diagnostic techniques indicate that prevalence is probably grossly underestimated.[24] In one study from the 1980s, a prevalence of over 90% was found in persons greater than 10 years old in a small village near Khon Kaen in northeast Thailand in the region known as Isaan.[25] Sporadic cases have been reported in case reports from Malaysia, Singapore, and the Philippines.[21] Although overall prevalence declined after initial surveys in the 1950s, increases since the 1990s in some areas seem associated with large increases in aquaculture.[23] ## Research[edit] Using CRISP gene editing technology, researchers eliminated the genes responsible for symptoms of O viverrini infection in animal models, which may lead to further research toward novel treatment and control of opisthorchiasis and prevention of cholangiocarcinoma.[26] ## References[edit] 1. ^ a b c d e f g h i j Muller R. & Wakelin D. (2002). Worms and human disease. CABI. page 43-44. 2. ^ a b Sripa, B. (2008). Loukas, Alex (ed.). "Concerted Action is Needed to Tackle Liver Fluke Infections in Asia". PLOS Neglected Tropical Diseases. 2 (5): e232. doi:10.1371/journal.pntd.0000232. PMC 2386259. PMID 18509525.. 3. ^ "Foodborne trematode infections". WHO. Retrieved 5 September 2018. 4. ^ King, S.; Scholz, T. Š. (2001). "Trematodes of the family Opisthorchiidae: A minireview". The Korean Journal of Parasitology. 39 (3): 209–221. doi:10.3347/kjp.2001.39.3.209. PMC 2721069. PMID 11590910. 5. ^ a b c d Sripa, B; Kaewkes, S; Sithithaworn, P; Mairiang, E; Laha, T; Smout, M; Pairojkul, C; Bhudhisawasdi, V; Tesana, S; Thinkamrop, B; Bethony, JM; Loukas, A; Brindley, PJ (July 2007). "Liver fluke induces cholangiocarcinoma". PLOS Medicine. 4 (7): e201. doi:10.1371/journal.pmed.0040201. PMC 1913093. PMID 17622191. 6. ^ "IARC Monographs on the Evaluation of Carcinogenic Risks to Humans". monographs.iarc.fr. Retrieved 17 July 2017. 7. ^ a b Young, ND; Campbell, BE; Hall, RS; Jex, AR; Cantacessi, C; Laha, T; Sohn, WM; Sripa, B; Loukas, A; Brindley, PJ; Gasser, RB (22 June 2010). "Unlocking the transcriptomes of two carcinogenic parasites, Clonorchis sinensis and Opisthorchis viverrini". PLOS Neglected Tropical Diseases. 4 (6): e719. doi:10.1371/journal.pntd.0000719. PMC 2889816. PMID 20582164. 8. ^ a b c d World Health Organization (1995). Control of Foodborne Trematode Infection. WHO Technical Report Series. 849. PDF part 1, PDF part 2. page 89-91. 9. ^ "Still Fighting: Vietnam Vets Seek Help for Rare Cancer". The New York Times. 11 November 2016. Retrieved 19 November 2016. 10. ^ a b Traub, R. J.; MacAranas, J.; Mungthin, M.; Leelayoova, S.; Cribb, T.; Murrell, K. D.; Thompson, R. C. A. (2009). Sripa, Banchob (ed.). "A New PCR-Based Approach Indicates the Range of Clonorchis sinensis Now Extends to Central Thailand". PLOS Neglected Tropical Diseases. 3 (1): e367. doi:10.1371/journal.pntd.0000367. PMC 2614470. PMID 19156191.. 11. ^ Head, Jonathan (13 June 2015). "Deadly dish: the dinner that can give you cancer". BBC News. Retrieved 20 November 2016. 12. ^ World Health Organization (2004). REPORT JOINT WHO/FAO WORKSHOP ON FOOD-BORNE TREMATODE INFECTIONS IN ASIA. Report series number: RS/2002/GE/40(VTN). 55 pp. PDF. pages 15-17. 13. ^ Khamboonruang, C.; Keawvichit, R.; Wongworapat, K.; Suwanrangsi, S.; Hongpromyart, M.; Sukhawat, K.; Tonguthai, K.; Lima Dos Santos, C. A. (1997). "Application of hazard analysis critical control point (HACCP) as a possible control measure for Opisthorchis viverrini infection in cultured carp (Puntius gonionotus)". The Southeast Asian Journal of Tropical Medicine and Public Health. 28 Suppl 1: 65–72. PMID 9656352.. 14. ^ "Opisthorchiasis - Treatment Information". CDC \- DPDx. 2013-11-29. Retrieved 2015-09-07. 15. ^ Soukhathammavong, P.; Odermatt, P.; Sayasone, S.; Vonghachack, Y.; Vounatsou, P.; Hatz, C.; Akkhavong, K.; Keiser, J. (2011). "Efficacy and safety of mefloquine, artesunate, mefloquine–artesunate, tribendimidine, and praziquantel in patients with Opisthorchis viverrini: A randomised, exploratory, open-label, phase 2 trial" (PDF). The Lancet Infectious Diseases. 11 (2): 110–118. doi:10.1016/S1473-3099(10)70250-4. PMID 21111681. 16. ^ Keiser, J.; Utzinger, J. R. (2007). "Artemisinins and synthetic trioxolanes in the treatment of helminth infections". Current Opinion in Infectious Diseases. 20 (6): 605–612. doi:10.1097/QCO.0b013e3282f19ec4. PMID 17975411. S2CID 34591129.. 17. ^ a b Sithithaworn, P; Andrews, RH; Nguyen, VD; Wongsaroj, T; Sinuon, M; Odermatt, P; Nawa, Y; Liang, S; Brindley, PJ; Sripa, B (March 2012). "The current status of opisthorchiasis and clonorchiasis in the Mekong Basin". Parasitology International. 61 (1): 10–6. doi:10.1016/j.parint.2011.08.014. PMC 3836690. PMID 21893213. 18. ^ Farrar, Jeremy; Hotez, Peter; Junghanss, Thomas; Kang, Gagandeep; Laloo, David; White, Nicholas (2013). Manson's tropical diseases (New ed.). Philadelphia: Saunders [Imprint]. ISBN 978-0702051012. 19. ^ Kaewpitoon, N; Kaewpitoon, SJ; Pengsaa, P (21 April 2008). "Opisthorchiasis in Thailand: review and current status". World Journal of Gastroenterology. 14 (15): 2297–302. doi:10.3748/wjg.14.2297. PMC 2705081. PMID 18416453. 20. ^ "Foodborne trematodiases". World Health Organization. Retrieved 26 November 2015. 21. ^ a b Sripa, B; Kaewkes, S; Intapan, PM; Maleewong, W; Brindley, PJ (2010). "Food-borne trematodiases in Southeast Asia epidemiology, pathology, clinical manifestation and control". Advances in Parasitology. 72: 305–50. doi:10.1016/S0065-308X(10)72011-X. PMID 20624536. 22. ^ Keiser, J; Utzinger, J (July 2009). "Food-borne trematobiases". Clinical Microbiology Reviews. 22 (3): 466–83. doi:10.1128/cmr.00012-09. PMC 2708390. PMID 19597009. 23. ^ a b Keiser, J; Utzinger, J (October 2005). "Emerging foodborne trematodiasis". Emerging Infectious Diseases. 11 (10): 1507–14. doi:10.3201/eid1110.050614. PMC 3366753. PMID 16318688. 24. ^ Johansen, MV; Sithithaworn, P; Bergquist, R; Utzinger, J (2010). "Towards improved diagnosis of zoonotic trematode infections in Southeast Asia". Advances in Parasitology. 73: 171–95. doi:10.1016/S0065-308X(10)73007-4. ISBN 9780123815149. PMID 20627143. 25. ^ Upatham, ES; Viyanant, V; Kurathong, S; Brockelman, WY; Menaruchi, A; Saowakontha, S; Intarakhao, C; Vajrasthira, S; Warren, KS (November 1982). "Morbidity in relation to intensity of infection in Opisthorchiasis viverrini: study of a community in Khon Kaen, Thailand". The American Journal of Tropical Medicine and Hygiene. 31 (6): 1156–63. doi:10.4269/ajtmh.1982.31.1156. PMID 6983303. 26. ^ "CRISPR/Cas9 shown to limit impact of certain parasitic diseases". www.bionity.com. Retrieved 2019-01-18. ## External links[edit] Classification D * ICD-10: B66.0 * ICD-9-CM: 121.0 * MeSH: D009889 * DiseasesDB: 29303 External resources * Patient UK: Opisthorchiasis * Scholia: Q1048084 * v * t * e Parasitic disease caused by helminthiases Flatworm/ platyhelminth infection Fluke/trematode (Trematode infection) Blood fluke * Schistosoma mansoni / S. japonicum / S. mekongi / S. haematobium / S. intercalatum * Schistosomiasis * Trichobilharzia regenti * Swimmer's itch Liver fluke * Clonorchis sinensis * Clonorchiasis * Dicrocoelium dendriticum / D. hospes * Dicrocoeliasis * Fasciola hepatica / F. gigantica * Fasciolosis * Opisthorchis viverrini / O. felineus * Opisthorchiasis Lung fluke * Paragonimus westermani / P. kellicotti * Paragonimiasis Intestinal fluke * Fasciolopsis buski * Fasciolopsiasis * Metagonimus yokogawai * Metagonimiasis * Heterophyes heterophyes * Heterophyiasis Cestoda (Tapeworm infection) Cyclophyllidea * Echinococcus granulosus / E. multilocularis * Echinococcosis * Taenia saginata / T. asiatica / T. solium (pork) * Taeniasis / Cysticercosis * Hymenolepis nana / H. diminuta * Hymenolepiasis Pseudophyllidea * Diphyllobothrium latum * Diphyllobothriasis * Spirometra erinaceieuropaei * Sparganosis * Diphyllobothrium mansonoides * Sparganosis Roundworm/ Nematode infection Secernentea Spiruria Camallanida * Dracunculus medinensis * Dracunculiasis Spirurida Filarioidea (Filariasis) * Onchocerca volvulus * Onchocerciasis * Loa loa * Loa loa filariasis * Mansonella * Mansonelliasis * Dirofilaria repens * D. immitis * Dirofilariasis * Wuchereria bancrofti / Brugia malayi / \|B. timori * Lymphatic filariasis Thelazioidea * Gnathostoma spinigerum / G. hispidum * Gnathostomiasis * Thelazia * Thelaziasis Spiruroidea * Gongylonema Strongylida (hookworm) * Hookworm infection * Ancylostoma duodenale / A. braziliense * Ancylostomiasis / Cutaneous larva migrans * Necator americanus * Necatoriasis * Angiostrongylus cantonensis * Angiostrongyliasis * Metastrongylus * Metastrongylosis Ascaridida * Ascaris lumbricoides * Ascariasis * Anisakis * Anisakiasis * Toxocara canis / T. cati * Visceral larva migrans / Toxocariasis * Baylisascaris * Dioctophyme renale * Dioctophymosis * Parascaris equorum Rhabditida * Strongyloides stercoralis * Strongyloidiasis * Trichostrongylus spp. * Trichostrongyliasis * Halicephalobus gingivalis Oxyurida * Enterobius vermicularis * Enterobiasis Adenophorea * Trichinella spiralis * Trichinosis * Trichuris trichiura (Trichuriasis / Whipworm) * Capillaria philippinensis * Intestinal capillariasis * C. hepatica [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Opisthorchiasis	c0029106	26,137	wikipedia	https://en.wikipedia.org/wiki/Opisthorchiasis	2021-01-18T18:52:25	{"gard": ["9746"], "mesh": ["D009889"], "umls": ["C0029106"], "wikidata": ["Q1048084"]}
## Summary ## Diagnosis ## Clinical Characteristics ## Differential Diagnosis Bronchogenic (foregut duplication) cysts result from abnormal budding of the ventral foregut [Knudtson & Grewal 2004]. They contain several components of the bronchi, including respiratory epithelia, mucous glands, and cartilage and may occur anywhere along the length of the trachea or esophagus. Most are diagnosed incidentally, although cysts can become infected or if large enough, can compress the esophagus and/or trachea. Congenital cystic adenomatoid malformation (CCAM) is a developmental abnormality of the lung resulting from abnormal cell proliferation and decreased programmed cell death of lung tissue. Abnormally formed bronchi connect to the CCAM. Type I CCAM is most common and is distinguished by relatively large cysts and mucin production. Symptoms can result when CCAMs grow in size and compress structures in the mediastinum. Cystic teratomas are benign tumors most often found in the anterior mediastinum [Jaggers & Balsara 2004]. They consist of several differentiated cell types derived from endoderm, ectoderm, and/or mesoderm. Cystic teratomas of the mediastinum are uncommon, comprising fewer than 10% of all tumors in that region. Neurogenic tumors are the most common lesion found in the posterior mediastinum. They are likely to be of neural crest origin; the majority are benign. Examples include: neurilemoma, neurofibroma, ganglioneuroma, pheochromocytoma, and neuroblastoma. CT and MRI are helpful in establishing the diagnosis. Paraesophageal hernia occurs when a portion of the stomach and sometimes part of the peritoneal sac containing the spleen or colon move into the chest cavity through the (normally occurring but) generally enlarged or dilated esophageal hiatus. More accurately, paraesophageal hernias are a type of hiatal hernia, in which the stomach gets "stuck" in the chest, rather than sliding back and forth between the thorax and abdomen. Approximately 5%-10% of (acquired) hernias are paraesophageal. They are rare in infancy and most commonly present in older adults. Pulmonary agenesis refers to partial or complete absence of lung tissue that is caused by failure of lung bud development. It is often associated with additional congenital malformations. Pulmonary sequestration results from primitive lung tissue that is not connected to the tracheobronchial tree. Sequestration may be intrapulmonary, occurring within the pleura of the normal lung, or extrapulmonary, occurring outside the normal lung within its own pleural sac. Extrapulmonary sequestration appears to arise from an accessory lung bud and often has associated anomalies, such as CDH. The most common presenting symptom is recurrent chest infections. ## Management ### Treatment of Manifestations Proper management of newborns with CDH must start in the delivery room; recently, investigative therapies may start in the prenatal period. A standardized protocol for neonatal management and treatment of infants with CDH was proposed by the CDH EURO Consortium Consensus [Reiss et al 2010], and more recently updated by Snoek et al [2016]. Respiratory support. Emphasis must be on preventing secondary lung injury. Newborns should be intubated immediately in the delivery room to avoid bag-mask ventilation and inflation of bowel that has herniated into the chest. Care should be taken not to induce barotrauma from bag ventilation before the neonate can be transitioned to an appropriate ventilator. In the 1990s, it was recognized that minimizing aggressive ventilation by limiting ventilator settings and/or allowing the neonate to do some of the breathing work resulted in improved outcomes. It was also recognized that infants did not need to be rushed to surgery and benefited from stabilization of respiratory and cardiovascular status prior to diaphragmatic repair. Assuring end-organ perfusion and stability instead of perfect physiologic values or immediate anatomic correction is now the standard of care [Wung et al 1995, Boloker et al 2002, Mohseni-Bod & Bohn 2007]. Extracorporeal membrane oxygenation (ECMO) continues to be used frequently in tertiary centers as a rescue therapy for neonates with critical cardiopulmonary deterioration. Critical factors to consider before initiating ECMO are the presence of coexisting anomalies (lethal conditions in particular), gestational age, birth weight, uncontrollable bleeding or uncorrectable bleeding diathesis, intracranial hemorrhage, and outlook of medical management [Garcia et al 2014, Cairo et al 2018]. The clinical utility of ECMO in improving overall survival hinges on the selection of the population most likely to benefit [discussed in Kays 2017]. Complications of ECMO treatment include air embolism, neurologic complications (e.g., intracranial hemorrhage, infarct, and seizures), cannulation site bleeding, coagulation abnormalities including disseminated intravascular coagulation, left-to-right shunting through the patent ductus arteriosus due to rapid and dramatic decrease in pulmonary hypertension, renal failure, systemic hypertension, and infection [Garcia et al 2014]. Due to the complex nature of treatment and the severity of possible complications, significant experience and a multidisciplinary team are required to manage individuals on ECMO. Pulmonary hypertension. Unfortunately, therapies that have been extremely successful in treating the usual persistent pulmonary hypertension of the newborn (PPHN) have not been widely successful in attenuating CDH-associated pulmonary hypertension and right ventricular failure. Evidence and recommendations for the diagnosis, monitoring, and management of pulmonary hypertension are reviewed in the CDH EURO Consortium Consensus – 2015 update [Snoek et al 2016]. Since some infants respond to nitric oxide (NO) [Okuyama et al 2002], a trial of NO with careful documentation of response with echocardiography prior to continuation is warranted. Phosphodiesterase inhibitors have been used in some individuals [Mohseni-Bod & Bohn 2007, Noori et al 2007]. Other therapies that have been introduced in the acute neonatal treatment phase for CDH but are controversial include the use of surfactant and perflubron [Fauza et al 2001, Hirschl et al 2003]. Unfortunately, the lack of large randomized controlled trials makes it difficult to determine which of these treatments may be beneficial. The presence of surfactant deficiency in those with CDH may depend on the sub-population, thus making it difficult to determine whether exogenous surfactant would be efficacious in large trials [Jani et al 2009, Janssen et al 2009]. ### Surveillance Since both pre- and postnatal advances in treatment have increased survival of high-risk individuals, it is important to provide close follow up and support for major complications and potential long-term morbidities. Long-term follow up for infants with CDH is ideally provided at a specialized center by a multidisciplinary team consisting of a pediatric surgeon, surgical nurse specialist, cardiologist, nutritionist, pulmonologist, and developmental pediatrician. This type of team can recognize, treat, and coordinate care for the many medical complications frequently found in long-term survivors with CDH. ### Evaluation of Relatives at Risk See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. ### Therapies Under Investigation Prenatal treatment. Treatment of severely affected infants has shifted to the prenatal period, as rescue of severe pulmonary hypoplasia is possible if done at the correct time. The discovery that laryngeal obstruction leads to lung distension from retained fluid prompted tracheal occlusion studies in animal models and in humans [Lipshutz et al 1997, Harrison et al 2003]. In one US randomized trial of fetal endoscopic tracheal occlusion, the treatment group experienced a high rate of preterm delivery and did not have improved morbidity or mortality rates [Harrison et al 2003]. However, since that time, advances have been made in tracheal occlusion techniques and in predicting which fetuses would most likely die without any intervention. Currently, high-risk fetuses in Europe or in a few US centers may receive tracheal occlusion by fetal endoscopic balloon placement. The procedure is performed in the second trimester when the observed/expected lung-area to head-circumference ratios are ≤1.0. Generally, fetuses selected for this procedure have isolated CDH (as well as can be determined by prenatal imaging) without chromosome aberrations. Although the treatment remains investigational, initial survival rates in high-risk fetuses are increased [Araujo Júnior et al 2017]. 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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Congenital Diaphragmatic Hernia Overview	None	26,138	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK1359/	2021-01-18T21:33:35	{"synonyms": []}
Fructose bisphosphatase deficiency Fructose 1,6-bisphosphate SpecialtyEndocrinology In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. Glycolysis (the breakdown of glucose) will still work, as it does not use this enzyme. ## Contents * 1 Presentation * 2 Diagnosis * 3 Treatment * 4 See also * 5 References * 6 External links ## Presentation[edit] Without effective gluconeogenesis (GNG), hypoglycaemia will set in after about 12 hours of fasting. This is the time when liver glycogen stores have been exhausted, and the body has to rely on GNG. When given a dose of glucagon (which would normally increase blood glucose) nothing will happen, as stores are depleted and GNG doesn't work. (In fact, the patient would already have high glucagon levels.) There is no problem with the metabolism of glucose or galactose, but fructose and glycerol cannot be used by the liver to maintain blood glucose levels. If fructose or glycerol are given, there will be a buildup of phosphorylated three-carbon sugars. This leads to phosphate depletion within the cells, and also in the blood. Without phosphate, ATP cannot be made, and many cell processes cannot occur. High levels of glucagon will tend to release fatty acids from adipose tissue, and this will combine with glycerol that cannot be used in the liver, to make triacylglycerides causing a fatty liver. As three carbon molecules cannot be used to make glucose, they will instead be made into pyruvate and lactate. These acids cause a drop in the pH of the blood (a metabolic acidosis). Acetyl CoA (acetyl co-enzyme A) will also build up, leading to the creation of ketone bodies. ## Diagnosis[edit] Diagnosis is made by measurement of FDPase in cultured lymphocytes and confirmed by detection of mutation of FBP1, encoding FDPase.<https://link.springer.com/article/10.1023/A:1015129616599></ref> ## Treatment[edit] To treat people with a deficiency of this enzyme, they must avoid needing gluconeogenesis to make glucose. This can be accomplished by not fasting for long periods, and eating high-carbohydrate food. They should avoid fructose containing foods (as well as sucrose which breaks down to fructose). As with all single-gene metabolic disorders, there is always hope for genetic therapy, inserting a healthy copy of the gene into existing liver cells.[citation needed] ## See also[edit] * Fructose * Gluconeogenesis * Metabolism ## References[edit] * diMauro, Salvatore; Darryl C. De Vivo (October 1998). "Diseases of Carbohydrate, Fatty Acid and Mitochondrial Metabolism". In George J. Siegel; et al. (eds.). Basic Neurochemistry: Molecular, Cellular and Medical Aspects (6th ed.). Philadelphia, Pennsylvania: Lippincott Williams and Wilkins. ISBN 978-0-7817-1745-8. ## External links[edit] Classification D * ICD-10: E74.1 * OMIM: 229700 * MeSH: D015319 * DiseasesDB: 5012 External resources * eMedicine: ped/806 * v * t * e Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders Including glycogen storage diseases (GSD) Sucrose, transport (extracellular) Disaccharide catabolism * Congenital alactasia * Sucrose intolerance Monosaccharide transport * Glucose-galactose malabsorption * Inborn errors of renal tubular transport (Renal glycosuria) * Fructose malabsorption Hexose → glucose Monosaccharide catabolism Fructose: * Essential fructosuria * Fructose intolerance Galactose / galactosemia: * GALK deficiency * GALT deficiency/GALE deficiency Glucose ⇄ glycogen Glycogenesis * GSD type 0 (glycogen synthase deficiency) * GSD type IV (Andersen's disease, branching enzyme deficiency) * Adult polyglucosan body disease (APBD) Glycogenolysis Extralysosomal: * GSD type III (Cori's disease, debranching enzyme deficiency) * GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) * GSD type V (McArdle's disease, myophosphorylase deficiency) * GSD type IX (phosphorylase kinase deficiency) Lysosomal (LSD): * GSD type II (Pompe's disease, glucosidase deficiency) Glucose ⇄ CAC Glycolysis * MODY 2/HHF3 * GSD type VII (Tarui's disease, phosphofructokinase deficiency) * Triosephosphate isomerase deficiency * Pyruvate kinase deficiency Gluconeogenesis * PCD * Fructose bisphosphatase deficiency * GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency) Pentose phosphate pathway * Glucose-6-phosphate dehydrogenase deficiency * Transaldolase deficiency * 6-phosphogluconate dehydrogenase deficiency Other * Hyperoxaluria * Primary hyperoxaluria * Pentosuria * Aldolase A deficiency [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Fructose bisphosphatase deficiency	c0016756	26,139	wikipedia	https://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency	2021-01-18T18:43:44	{"gard": ["2400"], "mesh": ["D015319"], "umls": ["C0016756"], "orphanet": ["348"], "wikidata": ["Q3043147"]}
Acute tubular necrosis SpecialtyNephrology Acute tubular necrosis (ATN) is a medical condition involving the death of tubular epithelial cells that form the renal tubules of the kidneys. ATN presents with acute kidney injury (AKI) and is one of the most common causes of AKI.[1] Common causes of ATN include low blood pressure and use of nephrotoxic drugs.[1] The presence of "muddy brown casts" of epithelial cells found in the urine during urinalysis is pathognomonic for ATN.[2] Management relies on aggressive treatment of the factors that precipitated ATN (e.g. hydration and cessation of the offending drug). Because the tubular cells continually replace themselves, the overall prognosis for ATN is quite good if the underlying cause is corrected, and recovery is likely within 7 to 21 days.[1] ## Contents * 1 Classification * 2 Diagnosis * 3 Toxic ATN * 4 Ischemic ATN * 5 See also * 6 References * 7 External links ## Classification[edit] ATN may be classified as either toxic or ischemic. Toxic ATN occurs when the tubular cells are exposed to a toxic substance (nephrotoxic ATN). Ischemic ATN occurs when the tubular cells do not get enough oxygen, a condition that they are highly sensitive and susceptible to, due to their very high metabolism.[3] ## Diagnosis[edit] Acute tubular necrosis is classified as a "renal" (i.e. not pre-renal or post-renal) cause of acute kidney injury. Diagnosis is made by a FENa (fractional excretion of sodium) > 3% and presence of muddy casts (a type of granular cast) in urinalysis. On histopathology, there is usually tubulorrhexis, that is, localized necrosis of the epithelial lining in renal tubules, with focal rupture or loss of basement membrane.[4] Proximal tubule cells can shed with variable viability and not be purely "necrotic".[5][6][7][8][9] ## Toxic ATN[edit] Toxic ATN can be caused by free hemoglobin or myoglobin, by medication including antibiotics such as aminoglycoside, statins such as atorvastatin, and cytotoxic drugs such as cisplatin, or by intoxication (ethylene glycol, "anti-freeze"). Histopathology: Toxic ATN is characterized by proximal tubular epithelium necrosis (no nuclei, intense eosinophilic homogeneous cytoplasm, but preserved shape) due to a toxic substance (poisons, organic solvents, drugs, heavy metals). Necrotic cells fall into the tubule lumen, obturating it, and determining acute kidney failure. Basement membrane is intact,[citation needed] so the tubular epithelium regeneration is possible. Glomeruli are not affected.[1] ## Ischemic ATN[edit] Ischemic ATN can be caused when the kidneys are not sufficiently perfused for a long period of time (i.e. renal artery stenosis) or during shock. Hypoperfusion can also be caused by embolism of the renal arteries. Given their importance in massive nutrient and electrolyte reabsorption, the proximal tubule and medullary thick ascending limb require significant ATP and are most susceptible to ischemic damage. Thus, ischemic ATN specifically causes skip lesions through the tubules.[2] ## See also[edit] * Acute interstitial nephritis * Renal cortical necrosis * Renal papillary necrosis ## References[edit] 1. ^ a b c d "Acute Tubular Necrosis (ATN)". Nephrology Channel. HealthCommunities.com. 2008. Retrieved 2008-09-23. 2. ^ a b Goldman, Lee; Cecil, Russell L. (2008). Cecil medicine. Philadelphia, PA: Saunders Elsevier. p. 705. ISBN 978-0-8089-2377-0. OCLC 191854838. 3. ^ Goldman, Lee; Cecil, Russell L. (2008). Cecil medicine. Philadelphia, PA: Saunders Elsevier. ISBN 978-0-8089-2377-0. OCLC 191854838.[page needed] 4. ^ TheFreeDictionary > tubulorrhexis Citing: The American Heritage Medical Dictionary 2007 5. ^ Glynne PA, Picot J, Evans TJ (November 2001). "Coexpressed nitric oxide synthase and apical beta(1) integrins influence tubule cell adhesion after cytokine-induced injury". Journal of the American Society of Nephrology. 12 (11): 2370–83. PMID 11675413. 6. ^ Glynne PA, Evans TJ (June 1999). "Inflammatory cytokines induce apoptotic and necrotic cell shedding from human proximal tubular epithelial cell monolayers". Kidney International. 55 (6): 2573–97. doi:10.1046/j.1523-1755.2002.t01-1-00456.x. PMID 10354308. 7. ^ Racusen LC (1998). "Epithelial cell shedding in acute renal injury". Clinical and Experimental Pharmacology & Physiology. 25 (3–4): 273–5. doi:10.1111/j.1440-1681.1998.t01-3-.x. PMID 9590582. 8. ^ Solez K, Racusen LC, Marcussen N, et al. (May 1993). "Morphology of ischemic acute kidney injury, normal function, and cyclosporine toxicity in cyclosporine-treated renal allograft recipients". Kidney International. 43 (5): 1058–67. doi:10.1038/ki.1993.148. PMID 8510383. 9. ^ Racusen LC, Fivush BA, Li YL, Slatnik I, Solez K (April 1991). "Dissociation of tubular cell detachment and tubular cell death in clinical and experimental 'acute tubular necrosis'". Laboratory Investigation. 64 (4): 546–56. PMID 1673163. ## External links[edit] Classification D * ICD-10: N17.0 * ICD-9-CM: 584.5 * MeSH: D007683 * DiseasesDB: 11263 External resources * MedlinePlus: 000512 * eMedicine: med/39 ped/28 * 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]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Acute tubular necrosis	c0022672	26,140	wikipedia	https://en.wikipedia.org/wiki/Acute_tubular_necrosis	2021-01-18T18:58:02	{"mesh": ["D007683"], "umls": ["C0022672"], "icd-9": ["584.5"], "wikidata": ["Q2425407"]}
Subacute thyroiditis Micrograph showing a granuloma in subacute thyroiditis. H&E stain. SpecialtyEndocrinology Subacute thyroiditis is a form of thyroiditis that can be a cause of both thyrotoxicosis and hypothyroidism.[1] It is uncommon and can affect individuals of both sexes, occurring three times as often in women than in men.[2] and people of all ages. The most common form, subacute granulomatous, or de Quervain's, thyroiditis manifests as a sudden and painful enlargement of the thyroid gland accompanied with fever, malaise and muscle aches. Indirect evidence has implicated viral infection in the etiology of subacute thyroiditis. This evidence is limited to preceding upper respiratory tract infection, elevated viral antibody levels, and both seasonal and geographical clustering of cases. There may be a genetic predisposition. [3] Nishihara and coworkers studied the clinical features of subacute thyroiditis in 852 mostly 40- to 50-year-old women in Japan. They noted seasonal clusters (summer to early autumn) and most subjects presented with neck pain. Fever and symptoms of thyrotoxicosis were present in two thirds of subjects. Upper respiratory tract infections in the month preceding presentation were reported in only 1 in 5 subjects. Recurrent episodes following resolution of the initial episode were rare, occurring in just 1.6% of cases. Laboratory markers for thyroid inflammation and dysfunction typically peaked within one week of onset of illness. ## Types[edit] * Subacute granulomatous thyroiditis (De Quervain thyroiditis) * Subacute lymphocytic thyroiditis * Postpartum thyroiditis * Palpation thyroiditis ## References[edit] 1. ^ "Subacute Thyroiditis: Overview - eMedicine Endocrinology". 2019-02-02. Cite journal requires `\|journal=` (help) 2. ^ "UpToDate". www.uptodate.com. Retrieved 2019-05-03. 3. ^ Nishihara, E.; Ohye, H.; Amino, N.; Takata, K.; Arishima, T.; Kudo, T.; Ito, M.; Kubota, S.; Fukata, S.; Miyauchi, A. (2008). "Clinical characteristics of 852 patients with subacute thyroiditis before treatment". Internal Medicine. 47 (8): 725–729. doi:10.2169/internalmedicine.47.0740. PMID 18421188. ## External links[edit] Classification D * ICD-10: E06.1 * ICD-9-CM: 245.1 * MeSH: D013968 External resources * MedlinePlus: 000375 * eMedicine: article/125648 * v * t * e Thyroid disease Hypothyroidism * Iodine deficiency * Cretinism * Congenital hypothyroidism * Myxedema * Myxedema coma * Euthyroid sick syndrome * Signs and symptoms * Queen Anne's sign * Woltman sign * Thyroid dyshormonogenesis * Pickardt syndrome Hyperthyroidism * Hyperthyroxinemia * Thyroid hormone resistance * Familial dysalbuminemic hyperthyroxinemia * Hashitoxicosis * Thyrotoxicosis factitia * Thyroid storm Graves' disease * Signs and symptoms * Abadie's sign of exophthalmic goiter * Boston's sign * Dalrymple's sign * Stellwag's sign * lid lag * Griffith's sign * Möbius sign * Pretibial myxedema * Graves' ophthalmopathy Thyroiditis * Acute infectious * Subacute * De Quervain's * Subacute lymphocytic * Palpation * Autoimmune/chronic * Hashimoto's * Postpartum * Riedel's Enlargement * Goitre * Endemic goitre * Toxic nodular goitre * Toxic multinodular goiter * Thyroid nodule * Colloid nodule This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Subacute thyroiditis	c0040149	26,141	wikipedia	https://en.wikipedia.org/wiki/Subacute_thyroiditis	2021-01-18T18:37:59	{"mesh": ["D013968"], "umls": ["C0342176"], "wikidata": ["Q4368173"]}
Angiosarcoma of the scalp is a very rare cancer which most commonly affects the elderly. Symptoms of this condition begin with a bruise-like lesions that progresses to an open or bleeding wound. These lesions will grow in size and, without treatment, the cancer will spread to other parts of the body (metastasis), usually the lungs. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including abnormal swelling of the lymph nodes (lymphedema), prior radiation treatment, and environmental exposures. It is diagnosed based on the symptoms and through a biopsy of the affected area of the scalp. Treatment may include surgery, radiation and chemotherapy. The long-term outlook for this rare cancer depends on how early it is diagnosed and the response to treatment. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Angiosarcoma of the scalp	None	26,142	gard	https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp	2021-01-18T18:02:06	{"synonyms": []}
Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only affects the hip joint. A person with BHD is similar in height to other family members. There are no other health problems associated with BHD. Beukes hip dysplasia (BHD) causes severe progressive degenerative osteoarthritis of the hip joint in early adulthood. Symptoms of hip joint pain and discomfort usually begin in infancy or later childhood, but may also begin as late as the mid-30s. Severity of the condition varies even among family members. In fact some people who inherit the change or mutation in the gene which causes BHD never develop any problems with their hip joint. After symptoms begin, the characteristic signs of secondary osteoarthritis (including bone sclerosis, cyst formation and narrowing of the joint space) develop and the joint deteriorates rapidly. Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery. As of 2015, BHD has only been found in relatives of a single family in South Africa who were of European descent. BHD has affected many generations and members of this family. Family members with BHD now live in other parts of the world as well. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Beukes familial hip dysplasia	c1840572	26,143	gard	https://rarediseases.info.nih.gov/diseases/2690/beukes-familial-hip-dysplasia	2021-01-18T18:01:48	{"mesh": ["C564185"], "omim": ["142669"], "umls": ["C1840572"], "orphanet": ["2114"], "synonyms": ["BFHD", "Hip dysplasia Beukes type", "Osteoarthropathy, premature degenerative, of hip", "Cilliers-Beighton syndrome"]}
A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. ## Epidemiology Overall prevalence is unknown but estimated prevalence may be around 1-9/1,000,000 for overall BAS defects, excluding cerebrotendinous xanthomatosis. Inborn errors in BAS probably account for 1-2% of cases of unexplained liver disease in infants, children and adolescents. ## Clinical description Age at diagnosis is variable. Presentation may be in infancy with liver cholestasis, in childhood with unexplained liver disease or in adulthood with neurologic disease. Infants and children may present with complications secondary to fat malabsorption and fat-soluble vitamin deficiency including rickets, bleeding diathesis, neuroaxonal dystrophy and night blindness. ## Etiology The seven inborn errors of BAS leading to liver cholestasis include: 3-beta-hydroxy-C27-steroid oxidoreductase deficiency (BAS defect type 1) that is the most common, delta4-3-oxosteriod-5-beta reductase deficiency (BAS defect type 2), oxysterol 7alpha-hydroxylase deficiency (BAS defect type 3), 2-methylacyl-CoA racemase deficiency (BAS defect type 4;), trihydroxycholestanoic acid (THCA) CoA oxidase deficiency (see this term), bile acid CoA ligase deficiency and defective amidation (see this term), and cerebrotendinous xanthomatosis (see these terms). Cholesterol 7alpha-hydroxylase deficiency (see this term) leads to hypercholesterolemia without liver cholestasis. A reported defect in side chain oxidation in the alternate 25-hydroxylation pathway needs further confirmation. ## Diagnostic methods Diagnosis is based on serum hepatic enzyme and bilirubin profile, and analysis of urine, serum and bile using liquid secondary ionization mass spectrometry (LSIMS) and gas chromatography - mass spectrometry (GC-MS). ## Differential diagnosis The spectrumof differential diagnoses is large and is that of neonatal cholestasis, unexplained fat-soluble vitamin deficiency in infancy and childhood, unexplained liver disease in infancy, childhood and adolescence and unexplained neurologic disease in adults. ## Antenatal diagnosis Most defects can be diagnosed antenatally from embryonic tissue when there has been a previously affected sibling. Urine from suspected cases may be screened by LSIMS in the first neonatal days and therapy initiated before significant morbidity develops. ## Management and treatment Treatment is based on primary bile acid therapy. Cholic acid creates a bile acid pool that stimulates bile flow and fat absorption. It does not appear to be effective for type 3. Ursodeoxycholic acid (UDCA) therapy creates a bile acid pool, but does not suppress production of toxic intermediates and is not very effective at facilitating fat absorption. Glycocholic acid therapy is the treatment of choice for bile acid CoA ligase deficiency and defective amidation, improving fat absorption and growth. ## Prognosis Prognosis depends on the type of defect. In all defects that affect the steroid nucleus of the bile acid molecule, if untreated, progressive liver disease may develop or reduced intestinal bile acid concentrations may lead to serious morbidity or mortality. Long-term survival and clinical improvement is possible with early treatment. In those defects that affect the side chain, liver disease is milder and neurological disease may predominate. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Disorder of bile acid synthesis	None	26,144	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79168	2021-01-23T18:31:26	{}
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Nicolaides-Baraitser syndrome	c1303073	26,145	gard	https://rarediseases.info.nih.gov/diseases/270/nicolaides-baraitser-syndrome	2021-01-18T17:58:42	{"mesh": ["C536116"], "omim": ["601358"], "umls": ["C1303073"], "orphanet": ["3051"], "synonyms": ["NCBRS", "Intellectual disability-sparse hair-brachydactyly syndrome"]}
See also: Anal sac adenocarcinoma Perianal gland tumor cytology A perianal gland tumor is a type of tumor found near the anus in dogs that arises from specialized glandular tissue found in the perineum. [1] It is also known as a hepatoid tumor because of the similarity in cell shape to hepatocytes (liver cells). It is most commonly seen in intact (not neutered) dogs and is the third most common tumor type in intact male dogs.[2] There are two types of perianal gland tumors, perianal gland adenomas, which are benign, and perianal gland adenocarcinomas, which are malignant. Both have receptors for testosterone.[3] Perianal gland adenomas are three times more likely to be found in intact male dogs than females, and perianal gland adenocarcinomas are ten times more common in male dogs than females.[4] The most commonly affected breeds for adenomas are the Siberian Husky, Cocker Spaniel, Pekingese, and Samoyed; for adenocarcinomas the most commonly affected breeds are the Siberian Husky, Bulldog, and Alaskan Malamute.[4] Perianal gland tumors are located most commonly in the skin around the anus, but can also be found on the tail or groin. Adenomas are more common, making up 91 percent of perianal gland tumors in one study.[5] Adenomas and adenocarcinomas look alike, both being round, pink and usually less than three centimeters in width. Adenocarcinomas are more likely to be multiple and invasive into the underlying tissue, and they can metastasize to the lymph nodes, liver, and lungs. Both types should be removed and sent to a pathologist for identification. However, 95 percent of perianal gland adenomas will disappear after neutering the dog.[5] Removing the tumor and neutering the dog at the same time will help prevent recurrence. Dogs with perianal gland adenocarcinomas should be treated with aggressive surgery and the radiation therapy and chemotherapy if necessary. ## References[edit] 1. ^ Kirpensteijn, Jolle (Jan 2006). "Treatment of perianal and anal sac tumors" (PDF). Proceedings of the North American Veterinary Conference. Retrieved 2007-03-27. 2. ^ Petterino C, Martini M, Castagnaro M (2004). "Immunohistochemical detection of growth hormone (GH) in canine hepatoid gland tumors". J Vet Med Sci. 66 (5): 569–72. doi:10.1292/jvms.66.569. PMID 15187372. 3. ^ Pisani G, Millanta F, Lorenzi D, Vannozzi I, Poli A (2006). "Androgen receptor expression in normal, hyperplastic and neoplastic hepatoid glands in the dog". Res Vet Sci. 81 (2): 231–6. doi:10.1016/j.rvsc.2005.11.001. PMID 16427103. 4. ^ a b "Hepatoid Gland Tumors". The Merck Veterinary Manual. 2006. Retrieved 2007-03-27. 5. ^ a b Morrison, Wallace B. (1998). Cancer in Dogs and Cats (1st ed.). Williams and Wilkins. ISBN 0-683-06105-4. [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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Perianal gland tumor	c0002757	26,146	wikipedia	https://en.wikipedia.org/wiki/Perianal_gland_tumor	2021-01-18T19:10:03	{"mesh": ["D000694"], "umls": ["C0002757"], "wikidata": ["Q7168360"]}
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems. The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair. Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia). Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection. Individuals with autoimmune Addison disease or their family members can have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes. ## Frequency Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases. ## Causes The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison disease participate in the body's immune response. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The most well-known risk factor for autoimmune Addison disease is a variant of the HLA-DRB1 gene called HLA-DRB104:04. This and other disease-associated HLA gene variants likely contribute to an inappropriate immune response that leads to autoimmune Addison disease, although the mechanism is unknown. Normally, the immune system responds only to proteins made by foreign invaders, not to the body's own proteins. In autoimmune Addison disease, however, an immune response is triggered by a normal adrenal gland protein, typically a protein called 21-hydroxylase. This protein plays a key role in producing certain hormones in the adrenal glands. The prolonged immune attack triggered by 21-hydroxylase damages the adrenal glands (specifically the outer layers of the glands known, collectively, as the adrenal cortex), preventing hormone production. A shortage of adrenal hormones (adrenal insufficiency) disrupts several normal functions in the body, leading to hypoglycemia, hyponatremia, hypotension, muscle cramps, skin hyperpigmentation and other features of autoimmune Addison disease. Rarely, Addison disease is not caused by an autoimmune reaction. Other causes include infections that damage the adrenal glands, such as tuberculosis, or tumors in the adrenal glands. Addison disease can also be one of several features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are caused by mutations in other genes. ### Learn more about the genes associated with Autoimmune Addison disease CIITA * CYP27B1 * HLA-DQA1 * HLA-DQB1 * HLA-DRB1 * NLRP1 * PTPN22 Additional Information from NCBI Gene: * CTLA4 * MICA ## Inheritance Pattern A predisposition to develop autoimmune Addison disease is passed through generations in families, but the inheritance pattern is unknown. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Autoimmune Addison disease	None	26,147	medlineplus	https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/	2021-01-27T08:24:39	{"synonyms": []}
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	c4015141	26,148	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436151	2021-01-23T17:41:35	{"omim": ["616078", "616083"], "icd-10": ["Q87.0"], "synonyms": ["Intellectual disability-loss of expressive language-facial dysmorphism syndrome"]}
The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. ## Epidemiology DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000 births, whereas that of DD type 1 is 1 in 100,000. ## Clinical description Clinically, the teeth are discolored and show structural defects such as bulbous crowns and small pulp chambers on radiographs. The underlying defect of mineralization often results in shearing of the overlying enamel leaving exposed weakened dentin which is prone to wear. Currently, three subtypes of DGI and two subtypes of DD are recognized but this categorization may change when further causative mutations are identified. ## Etiology DGI type 1 is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD type 1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP). ## Diagnostic methods Diagnosis is based on family history, pedigree construction and detailed clinical examination, but genetic diagnosis may become useful in the future once a sufficient number of disease-causing mutations have been identified. ## Differential diagnosis Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann syndrome, cyclic neutropenia, Chediak-Higashi syndrome, histiocytosis X and Papillon-Lefevre syndrome), permanent teeth discoloration due to tetracyclines, and Vitamin D-dependent and vitamin D-resistant rickets (see these terms). ## Genetic counseling Both DGI and DD are transmitted as autosomal dominant conditions. ## Management and treatment Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition. ## Prognosis Where diagnosis occurs early in life and treatment follows the outlined recommendations, good esthetics and function can be obtained. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Hereditary dentin defect	None	26,149	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=167759	2021-01-23T18:02:35	{"icd-10": ["K00.5"]}
A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Congenital chloride diarrhea	c0267662	26,150	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53689	2021-01-23T17:09:03	{"gard": ["10001"], "mesh": ["C536210"], "omim": ["214700"], "umls": ["C0267662"], "icd-10": ["P78.3"]}
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Isolated right ventricular hypoplasia	c1848587	26,151	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439	2021-01-23T17:19:15	{"gard": ["4721"], "mesh": ["C535682"], "omim": ["277200"], "umls": ["C1848587"], "icd-10": ["Q22.6"]}
## Clinical Features Urioste et al. (1993) reported the cases of 3 unrelated newborn males with a previously unreported constellation of congenital anomalies. They presented with prenatal growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All had male external genitalia with cryptorchidism, and 2 of them had a small penis. Necropsies showed similar internal anomalies: mullerian duct remnants, lymphangiectasia, and renal anomalies. The karyotype was normal (46,XY) in skin fibroblasts and peripheral blood lymphocytes. Because one of the patients had a previously born brother with similar anomalies, Urioste et al. (1993) suspected that this new entity represented either an autosomal recessive or an X-linked disorder. One of the infants showed a prostate, histologically normal, around the neck of the bladder, a uterus and fallopian tubes, both histologically well developed, and an atretic vagina. The testes were attached at the end of the fallopian tubes. The parents were nonconsanguineous in each case. One patient died at 17 days, the second at the fourth month of life, and the third at 54 days of life. All had hypoproteinemia. One of the patients had intestinal lymphangiectasia, and another had lymphangiectasia of the thyroid, pancreas, and lungs. The third patient had protein-losing enteropathy. In all, death was attributed to hepatic failure. The evidence for this was not provided; the hypoproteinemia was presumably due to protein-losing enteropathy. Van Haelst et al. (2001) reported a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The first sib was born with a protein-losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein-losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed mullerian duct remnants. These cases were thought to confirm the Urioste syndrome. Although the syndrome had previously been reported only in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggested it is an autosomal recessive entity. Bellini et al. (2001) described 2 newborn brothers with persistence of mullerian duct derivatives, intestinal lymphangiectasia, hypertrophied dental alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. Inheritance Urioste et al. (1993) suggested autosomal recessive or X-linked inheritance of this disorder. INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Flat occiput Face \- Smooth philtrum \- Micrognathia \- Flat midface Ears \- Low-set ears Eyes \- Prominent eyes \- Hypertelorism \- Downslanting palpebral fissures Nose \- Broad nasal bridge Mouth \- Hypertrophied alveolar ridge \- Long thin upper lip \- High-arched palate \- Cleft palate Neck \- Redundant nuchal skin \- Short neck CARDIOVASCULAR Heart \- Ventricular septal defect RESPIRATORY Lung \- Pulmonary lymphangiectasis CHEST External Features \- Narrow thorax ABDOMEN External Features \- Ascites \- Abdominal distention Liver \- Hepatomegaly \- Hepatic failure Pancreas \- Pancreatic lymphangiectasis Spleen \- Splenomegaly Gastrointestinal \- Stomach, jejunal, and ileal lymphangiectasis \- Protein-losing enteropathy GENITOURINARY External Genitalia (Male) \- Small penis \- Inguinal hernia Internal Genitalia (Male) \- Cryptorchidism \- Mullerian duct remnants (uterus and fallopian tube in male patients) Kidneys \- Hydronephrosis SKELETAL Hands \- Postaxial polydactyly SKIN, NAILS, & HAIR Hair \- Hypertrichosis (face, body) MUSCLE, SOFT TISSUES \- Lymphedema (lower limb) NEUROLOGIC Central Nervous System \- Hypotonia \- Ventriculomegaly ENDOCRINE FEATURES \- Thyroid lymphangiectasis PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios LABORATORY ABNORMALITIES \- Hypoproteinemia \- Hypocalcemia MISCELLANEOUS \- Death in early infancy ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY	c1856159	26,152	omim	https://www.omim.org/entry/235255	2019-09-22T16:27:10	{"mesh": ["C536478"], "omim": ["235255"], "orphanet": ["1655"], "synonyms": ["URIOSTE SYNDROME", "Alternative titles", "Urioste syndrome"]}
Rare neuromuscular disease Sporadic late-onset nemaline myopathy Other namesSLONM Sporadic late-onset nemaline myopathy, or SLONM, is a very rare disease, one of the nemaline myopathies, causing loss of muscle bulk and weakness in the legs but sparing the cranial nerves, and beginning its clinical course after age 40.[1] It was first identified in 1966 at the Mayo Clinic, by A.G. Engel,[2] and that same year W.K. Engel and J.S. Resnick noted another case that they elaborated in 1975.[3][4] The diagnosis of the disease rests on subacutely evolving weakness after age 40, normal to low CK level, a myopathic EMG with fibrillations, and often a monoclonal gammopathy. The diagnosis is confirmed by visualizing rods in cryosections on light and electron microscopy. The associated monoclonal gammopathy has an unfavorable prognosis. ## Contents * 1 Presentation * 2 Pathophysiology * 3 Diagnosis * 4 Treatment * 5 References ## Presentation[edit] Weakness in a limb-girdle distribution, hips and shoulders, after age 40 is generally the first symptom. Sometimes the weakness is predominantly distal. Head drop may also be a presenting symptom. Dysphagia may occur, as can respiratory insufficiency.[citation needed] ## Pathophysiology[edit] The etiology is unknown.[5] Some cases of SLONM have been comorbid with HIV infection, and others with immune disorders, and so both a viral trigger and an autoimmune disorder have been considered candidate etiologies. The monoclonal gammopathy of unknown significance (MGUS) associated with a worse prognosis also argues for an immune disorder. On electron microscopy, nemaline bodies within the affected muscle fibers may be found. These bodies are sometimes crisply rod-shaped, but can also be irregular and punctate. The rods may be found alongside atrophic muscle fibers, and may be seen arising from the thickened Z-discs of the sarcolemmae. Affected fibers may be vacuolated or lobulated.[6] ## Diagnosis[edit] The myopathic EMG demonstrates fibrillation potentials. The serum CK level will be normal or low normal. The muscle biopsy will demonstrate the nemaline rods, but as they are less than 1 µm in length they are easily overlooked. The sections must be trichromatically stained and sectioned at a thickness of 2 to 4 µm for effective visualization. Immunostains for myotilin and α-actinin all but clinch the diagnosis. However, nemaline rods may still be visible post-mortem in neurosarcoidosis, which may remain on the differential.[7] Generally the outcome is grim, with respiratory insufficiency the cause of death.[citation needed] ## Treatment[edit] Rehabilitation for muscle strengthening can be useful in alleviating symptoms.[8] Improvement has been noted in two HIV-negative individuals treated with immunoglobulin (IViG) agents.[9] Improvement has also been noted with autologous stem cell transplantation, and chemotherapy with melphalan.[10][11] ## References[edit] 1. ^ Chahin N, Selcen D, Engel AG (October 2005). "Sporadic late onset nemaline myopathy". Neurology. 65 (8): 1158–64. doi:10.1212/01.wnl.0000180362.90078.dc. PMID 16148261. 2. ^ Engel AG (November 1966). "Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases". Mayo Clinic Proceedings. 41 (11): 713–41. PMID 5957590. 3. ^ Engel, W.K.; Resnick, J.S. (1966). "Late onset rod myopathy: a newly recognized, acquired, and progressive disease". Neurology. 16 (3): 308–9. doi:10.1212/wnl.16.3.299. 4. ^ Engel WK, Oberc MA (March 1975). "Abundant nuclear rods in adult-onset rod disease". Journal of Neuropathology and Experimental Neurology. 34 (2): 119–32. doi:10.1097/00005072-197503000-00001. PMID 47386. 5. ^ Suzuki M, Shimizu Y, Takeuchi M, Kobayashi M, Iwata M, Uchiyama S (February 2012). "Sporadic late-onset nemaline myopathy in a patient with primary Sjögren's syndrome". Journal of Neurology. 259 (2): 358–60. doi:10.1007/s00415-011-6160-4. PMID 21744311. 6. ^ Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G (January 2006). "Adult-onset nemaline myopathy and monoclonal gammopathy". Archives of Neurology. 63 (1): 132–4. doi:10.1001/archneur.63.1.132. PMID 16401746. 7. ^ Bos MM, Overeem S, van Engelen BG, et al. (August 2006). "A case of neuromuscular mimicry". Neuromuscular Disorders. 16 (8): 510–3. doi:10.1016/j.nmd.2006.06.005. PMID 16919950. 8. ^ Parks NE, Hanada EY (December 2012). "Maximizing functional independence in sporadic late onset nemaline myopathy". PM&R. 4 (12): 1020–3. doi:10.1016/j.pmrj.2012.06.008. PMID 23245665. 9. ^ Milone M, Katz A, Amato AA, et al. (February 2010). "Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy". Muscle & Nerve. 41 (2): 272–6. doi:10.1002/mus.21504. PMID 19852026. 10. ^ Hanisch F, Schneider I, Müller T, et al. (August 2013). "Behandelbarkeit der 'sporadic late onset nemaline myopathy'" [Treatability of sporadic late onset nemaline myopathy]. Der Nervenarzt (in German). 84 (8): 955–61. doi:10.1007/s00115-013-3825-5. PMID 23836301. 11. ^ Novy J, Rosselet A, Spertini O, Lobrinus JA, Pabst T, Kuntzer T (February 2010). "Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy". Muscle & Nerve. 41 (2): 286–7. doi:10.1002/mus.21560. PMID 19918772. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Sporadic late-onset nemaline myopathy	c0546123	26,153	wikipedia	https://en.wikipedia.org/wiki/Sporadic_late-onset_nemaline_myopathy	2021-01-18T19:03:37	{"gard": ["12824"], "mesh": ["D017696"], "umls": ["C0546123"], "orphanet": ["171442"], "wikidata": ["Q18217268"]}
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells). ## Epidemiology SS has an annual incidence rate of 1/10,000,000 and represents 3% of all cutaneous lymphomas. ## Clinical description SS develops most frequently in men, in most cases during their fifth decade of life and progresses rapidly. SS correspond to stages IVA2 and IVB of T-cell cutaneous lymphoma (see this term). Patients present with a scaling erythroderma and infiltration often manifesting with leonine facies and severe pruritus. Alopecia, ectropium, mild palmoplantar keratoderma and nail onychodystrophy may be present. Lymphadenopathy and hepatosplenomegaly are observed. Patients often shiver and complain of chills and general fatigue. ## Etiology SS has been linked to a wide range of chromosomal anomalies, in particular rearrangements in the 6q23-27 region leading to alterations in the MYB proto-oncogene and the interleukin-22 receptor subunit alpha-2 gene (IL22RA2), but its etiology remains unclear. ## Diagnostic methods Criteria that define SS are currently the following: an absolute Sézary cell count of 1,000 cells/mm3 or greater (B2 stage); an increase in CD3 or CD4 positive cells resulting in a CD4/CD8 ratio of 10 or greater; aberrant expression of pan T cell markers (i.e. deficient CD7 expression on T cells); increased relative or absolute lymphocyte counts with evidence of an identical T cell clone in the blood and skin by Southern blot or PCR technique. Skin biopsy may be not conclusive. ## Differential diagnosis Differential diagnosis includes adverse drug reactions, classical mycosis fungoides and other forms of primary cutaneous T cell lymphoma (see these terms) as well as other causes of erythroderma such as psoriasis, atopic dermatitis and pityriasis rubra pilaris (see this term). ## Management and treatment Assessment includes chest X-ray, computed tomography scan, magnetic resonance imaging and PET scan and an initial lymph node biopsy. Bimonthly extracorporeal photopheresis treatment may be combined with low doses of methotrexate, bexarotene or interferon-alpha. In advanced or non-responsive cases, chemotherapy with liposomal doxorubicine, gemcitabine or alemtuzumab may be considered. In cases of relapse, treatment may include total skin electron beam therapy and allogeneic stem cell transplantion. ## Prognosis Prognosis is poor, with median survival of patients being approximately 5 years, and is dependent upon initial presentation and evolution. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Sézary syndrome	c0036920	26,154	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3162	2021-01-23T17:08:40	{"gard": ["7629"], "mesh": ["D012751"], "umls": ["C0036920"], "icd-10": ["C84.1"], "synonyms": ["Sézary lymphoma"]}
## Clinical Features In 13 persons in 4 generations, with male-to-male transmission, Bass (1968) found absence of the middle phalanges and nail dysplasia. The terminal phalanx of the thumb was duplicated. Cuevas-Sosa and Garcia-Segur (1971) reported a family. Temtamy and McKusick (1978) studied a pedigree with an unusual type of brachydactyly in 4 generations. The main features were brachymesophalangy affecting mainly the 2nd and 5th digits. When the 4th digit was affected, it showed an abnormally shaped middle phalanx leading to radial deviation of the distal phalanx. The feet also showed absence of middle phalanges of the lateral four toes. The propositus had congenital talipes calcaneovalgus. A pedigree reported by Jeanselme et al. (1923) had affected members in 4 generations and could represent the same type of brachydactyly. It was one of Bell's unclassified pedigrees. The affected members had brachydactyly of the 2nd and 5th fingers due to brachymesophalangy, and one affected member had clubfoot. Stiles and Schalck (1945) described a family in which many members of 4 generations had ulnar curvature of the second finger. Usually the 5th finger, and sometimes also the 4th, showed at least mild radial curvature. This is really a form of clinodactyly. Ohzeki et al. (1993) reported brachydactyly type A4 in a Japanese mother and daughter who were also short of stature. Limbs \- Brachydactyly \- Hypoplastic middle phalanges \- Brachymesophalangy affecting mainly the 2nd and 5th digits \- Absent middle phalanges of the lateral four toes \- Congenital talipes calcaneovalgus Growth \- Normal 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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	BRACHYDACTYLY, TYPE A4	c1862139	26,155	omim	https://www.omim.org/entry/112800	2019-09-22T16:44:06	{"doid": ["0110967"], "mesh": ["C537097"], "omim": ["112800"], "orphanet": ["93394"], "synonyms": ["Alternative titles", "BRACHYMESOPHALANGY II AND V", "TEMTAMY TYPE BRACHYDACTYLY"]}
Linburg–Comstock variation Other namesLinburg–Comstock syndrome Linburg and Comstock syndrome is seen as a tendinous connection (green) between flexor pollicis longus (purple) and flexor digitorum profundus (yellow). SpecialtyOrthopedic surgery, plastic surgery Linburg–Comstock variation is an occasional tendinous connection between the flexor pollicis longus and the flexor digitorum profundus of the index, the middle finger or both. It is found in around 21% of the population.[1] It is an anatomical variation in human, which may be viewed as a pathology if causes symptoms. It was recognised as early as the 1800s, but was first described by Linburg and Comstock in 1979.[2] ## Contents * 1 Signs and symptoms * 2 Structure * 2.1 Development * 2.2 Anatomy * 3 Diagnosis * 4 Treatment * 5 Epidemiology * 6 References * 7 External links ## Signs and symptoms[edit] Although Linburg–Comstock variation remains asymptomatic, a number of case reports suggested that symptoms could develop after a forceful extension of the index finger with the thumb in a flexed position.[3][4] Symptoms also develop from heavy and repetitive use of the wrist and forearm and can also develop in those who require fine and independent functionality of the fingers, such as musicians.[3][4] This abnormality is clinically evident when the patient is unable to flex the thumb without flexing the distal interphalangeal joint of the index or middle finger or vice versa. Flexor tenosynovitis is a common finding in the patients with Linburg–Comstock syndrome. Another hypothesis is that anatomical variations, which in this case is an additional tendon slip, may act as space-occupying lesions and potentially contribute to carpal tunnel syndrome.[5] ## Structure[edit] ### Development[edit] Linburg–Comstock variation and syndrome may result from phylogenetic differences between human and non-human primates. Phylogenetically, the flexor pollicis longus and the flexor digitorum profundus both originate from a common mesodermal mass.[6] In non-human primates, there is only one flexor muscle for all the fingers, whereas in humans, the flexor pollicis longus becomes distinct.[7] Linburg–Comstock syndrome may be viewed as an evolutionary persistent structure. It is still inconclusive whether or not the connection is congenital or acquired at a later time point in life.[8] ### Anatomy[edit] Multiple types of the connection between the flexor pollicis longus and the flexor digitorum profundus were described:[9] * A tendinous connection between the flexor digitorum profundus of the index to the flexor pollicis longus * A muscle with a bifurcated (split into two) tendon for the thumb and index finger * A common muscle with five tendons for the thumb and the long fingers ## Diagnosis[edit] The examiner passively restricts the flexion of the fingers while the examinee attempts to actively flex the thumb.[10] A positive test is marked by restricted active thumb flexion with pain or cramping discomfort in the palmar and radial sides of the distal (lower) forearm or wrist.[10] The magnetic resonance imaging (MRI) can confirm and localise Linburg and Comstock syndrome.[10] As reported by Karalezli, magnetic resonance imaging was performed on all patients diagnosed with positive test, and there were tendinous connection in all cases.[11] ## Treatment[edit] Surgery may be performed by excising or splitting the tendinous connection to form two separate tendons, depending on the nature of the connection.[12] Muscle belly associated with the symptoms may also be removed.[6] ## Epidemiology[edit] This variant occurred bilaterally (in both hands) in 14% and unilaterally in 31% (either in left or right hand) out of 194 patients as reported by the original study.[2] Four cases were responsible for chronic tenosynovitis.[2] A recent meta analysis reported that the connection is present in 21% of the population.[1] ## References[edit] 1. ^ a b Yammine, Kaissar; Erić, Mirela (7 December 2017). "Linburg–Comstock variation and syndrome. A meta-analysis". Surgical and Radiologic Anatomy. 40 (3): 289–296. doi:10.1007/s00276-017-1957-1. ISSN 0930-1038. PMID 29218383. S2CID 4346785. 2. ^ a b c Linburg, R. M.; Comstock, B. E. (1 January 1979). "Anomalous tendon slips from the flexor pollicis longus to the flexor digitorum profundus". The Journal of Hand Surgery. 4 (1): 79–83. doi:10.1016/s0363-5023(79)80110-0. ISSN 0363-5023. PMID 759509. 3. ^ a b Takami, Hiroshi; Takahashi, Sadao; Ando, Masashi (March 1996). "The Linburg Comstock anomaly: A case report". The Journal of Hand Surgery. 21 (2): 251–252. doi:10.1016/S0363-5023(96)80110-9. PMID 8683056. 4. ^ a b Furukawa, Kayoko; Menuki, Kunitaka; Sakai, Akinori; Oshige, Toshihisa; Nakamura, Toshitaka (1 January 2012). "Linburg-comstock syndrome: a case report". Hand Surgery. 17 (2): 217–220. doi:10.1142/S0218810412720197. ISSN 0218-8104. PMID 22745086. 5. ^ Slater, R. R (1 August 2001). "Flexor tendon anomalies in a patient with carpal tunnel syndrome". Journal of Hand Surgery. 26 (4): 373–376. doi:10.1054/jhsb.2001.0613. PMID 11469843. S2CID 35725315. 6. ^ a b Slater, R. R. (1 August 2001). "Flexor tendon anomalies in a patient with carpal tunnel syndrome". Journal of Hand Surgery. 26 (4): 373–376. doi:10.1054/jhsb.2001.0613. ISSN 0266-7681. PMID 11469843. S2CID 35725315. 7. ^ Stahl, Shalom; Stahl, Shy; Calif, Edward (2005). "Failure of Flexor Pollicis Longus Repair Caused By Anomalous Flexor Pollicis Longus to Index Flexor Digitorum Profundus Interconnections: A Case Report – Journal of Hand Surgery". The Journal of Hand Surgery. 30 (3): 483–486. doi:10.1016/j.jhsa.2005.01.005. PMID 15925156. Retrieved 13 February 2016. 8. ^ Bulut, T; Tahta, M; Ozturk, T; Zengin, EC; Ozcan, C; Sener, M (21 September 2017). "Linburg-Comstock: Is Overuse an Etiological Factor?". Plastic Surgery. 25 (4): 268–271. doi:10.1177/2292550317731763. PMC 5871072. PMID 29619350. 9. ^ Spaepen, D.; De Marteleire, W.; De Smet, Luc (1 October 2003). "Symptomatic Linburg–Comstock syndrome: a case report". Acta Orthopaedica Belgica. 69 (5): 455–457. ISSN 0001-6462. PMID 14648957. 10. ^ a b c Yoon, Hong-Kee; Kim, Chang-Hyun (1 September 2013). "Linburg-Comstock syndrome involving four fingers: a case report and review of the literature". Journal of Plastic, Reconstructive & Aesthetic Surgery. 66 (9): 1291–1294. doi:10.1016/j.bjps.2012.12.032. ISSN 1878-0539. PMID 23379987. 11. ^ Karalezli, Nazım; Karakose, Serdar; Haykir, Rahime; Yagisan, Nihan; Kacira, Burkay; Tuncay, Ibrahim (July 2006). "Linburg–Comstock anomaly in musicians". Journal of Plastic, Reconstructive & Aesthetic Surgery. 59 (7): 768–771. doi:10.1016/j.bjps.2006.01.003. PMID 16782576. 12. ^ Badhe, S.; Lynch, J.; Thorpe, S. K. S.; Bainbridge, L. C. (1 September 2010). "Operative treatment of Linburg–Comstock syndrome". The Journal of Bone and Joint Surgery. British Volume. 92-B (9): 1278–1281. doi:10.1302/0301-620X.92B9.23577. ISSN 2049-4394. PMID 20798448. S2CID 6317353. ## External links[edit] Classification D * v * t * e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve * Carpal tunnel syndrome * Ape hand deformity ulnar nerve * Ulnar nerve entrapment * Froment's sign * Ulnar tunnel syndrome * Ulnar claw radial nerve * Radial neuropathy * Wrist drop * Cheiralgia paresthetica long thoracic nerve * Winged scapula * Backpack palsy Leg lateral cutaneous nerve of thigh * Meralgia paraesthetica tibial nerve * Tarsal tunnel syndrome plantar nerve * Morton's neuroma superior gluteal nerve * Trendelenburg's sign sciatic nerve * Piriformis syndrome Cranial nerves * See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN * Charcot–Marie–Tooth disease * Dejerine–Sottas disease * Refsum's disease * Hereditary spastic paraplegia * Hereditary neuropathy with liability to pressure palsy * Familial amyloid neuropathy Autoimmune and demyelinating disease * Guillain–Barré syndrome * Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy * Brachial plexus injury * Thoracic outlet syndrome * Phantom limb Other * Alcoholic polyneuropathy Other General * Complex regional pain syndrome * Mononeuritis multiplex * Peripheral neuropathy * Neuralgia * Nerve compression syndrome [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Linburg–Comstock variation	None	26,156	wikipedia	https://en.wikipedia.org/wiki/Linburg%E2%80%93Comstock_variation	2021-01-18T18:53:17	{"wikidata": ["Q25324292"]}
An antalgic gait is a gait that develops as a way to avoid pain while walking (antalgic = anti- \+ alge, "against pain"). It is a form of gait abnormality where the stance phase of gait is abnormally shortened relative to the swing phase. It is a good indication of weight-bearing pain.[1] ## Conditions associated with an antalgic gait[edit] * Coxalgia[2] * Leg cramps * Legg–Calvé–Perthes disease (LCPD) * Osteoarthritis * Pelvic girdle pain (PGP) * Slipped capital femoral epiphysis[3] * Tarsal tunnel syndrome (TTS)[4] * Trauma ## References[edit] 1. ^ GP Notebook 2. ^ CALVÉ; et al. (1939). "PATHOGENESIS OF THE LIMP DUE TO COXALGIA: The Antalgic Gait". Journal of Bone and Joint Surgery. 21 (1): 12. Archived from the original on 2010-10-23. 3. ^ Walter, Kevin D. (2011). "Hip" Chapter 199. In Marcdante K, Kliegman R, Jenson H, Behrman R (Ed.), Nelson Essentials of Pediatrics (6th ed.) pp. 744-45. Pravin Elsevier. ISBN 978-1-4377-0643-7 4. ^ Garchar, D. J.; Lewis, J. E.; Didomenico, L. A. (2001). "Hypertrophic sustentaculum tali causing a tarsal tunnel syndrome: a case report" (PDF). The Journal of Foot and Ankle Surgery. 40 (2): 110–112. doi:10.1016/S1067-2516(01)80053-3. PMID 11324667. * v * t * e Symptoms and signs relating to movement and gait Gait * Gait abnormality * CNS * Scissor gait * Cerebellar ataxia * Festinating gait * Marche à petit pas * Propulsive gait * Stomping gait * Spastic gait * Magnetic gait * Truncal ataxia * Muscular * Myopathic gait * Trendelenburg gait * Pigeon gait * Steppage gait * Antalgic gait Coordination * Ataxia * Cerebellar ataxia * Dysmetria * Dysdiadochokinesia * Pronator drift * Dyssynergia * Sensory ataxia * Asterixis Abnormal movement * Athetosis * Tremor * Fasciculation * Fibrillation Posturing * Abnormal posturing * Opisthotonus * Spasm * Trismus * Cramp * Tetany * Myokymia * Joint locking Paralysis * Flaccid paralysis * Spastic paraplegia * Spastic diplegia * Spastic paraplegia * Syndromes * Monoplegia * Diplegia / Paraplegia * Hemiplegia * Triplegia * Tetraplegia / Quadruplegia * General causes * Upper motor neuron lesion * Lower motor neuron lesion Weakness * Hemiparesis Other * Rachitic rosary * Hyperreflexia * Clasp-knife response This medical sign article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Antalgic gait	c0231685	26,157	wikipedia	https://en.wikipedia.org/wiki/Antalgic_gait	2021-01-18T18:58:30	{"umls": ["C0231685"], "wikidata": ["Q4770928"]}
## Clinical Features Pulmonary arteriovenous fistulas are a rare isolated finding and are usually not familial. They are typically associated with hereditary hemorrhagic telangiectasia (HHT; see 187300). In HHT, the fistulas are congenital in only a small proportion of cases; the usual experience is that they develop, at least to a level producing clinical manifestations, after puberty, just as do the telangiectases responsible for epistaxis and gastrointestinal hemorrhage. Wong and Perloff (1988) described a brother and sister, aged 71 and 73 years, respectively, who had cyanosis and clubbing of the fingers and toes. (The sibs were referred to as octogenarians, but the dictionary defines an octogenarian as one between ages 80 and 90 years.) In both cases 'meticulous examination of the skin and mucous membranes disclosed no telangiectasis.' Pulmonary AV fistulas were found in the lower lobes of both sibs and in the right middle lobe as well in the brother. 'Staged coil embolization of the fistulas' was successfully performed in the brother. INHERITANCE \- Autosomal recessive. CARDIOVASCULAR Vascular \- Pulmonary arteriovenous fistulas SKELETAL Hands \- Clubbing of fingers Feet \- Clubbing of toes SKIN, NAILS, & HAIR Skin \- Cyanosis \- No telangiectasis MISCELLANEOUS \- Based on one sib pair each in their seventies \- Isolated pulmonary A-V fistulas are typically associated with hereditary hemorrhagic telangiectasia ( 187300 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	PULMONARY ARTERIOVENOUS FISTULAS	c0155675	26,158	omim	https://www.omim.org/entry/265140	2019-09-22T16:23:02	{"mesh": ["C562404"], "omim": ["265140"], "icd-9": ["417.0"], "icd-10": ["I28.0"], "orphanet": ["2038"]}
A number sign (#) is used with this entry because Kahrizi syndrome (KHRZ) can be caused by homozygous mutation in the SRD5A3 gene (611715) on chromosome 4q12. Description Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features. Clinical Features Kahrizi et al. (2009) reported 3 Iranian sibs with a syndrome characterized by severe mental retardation, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. One sib had left iris coloboma, and another sib had bilateral iris coloboma. At the time of the report, the patients were 45, 42, and 40 years old. None of the patients had learned to speak, and their motor development was delayed. All 3 sibs developed severe thoracic kyphosis at about 8 years of age, but skeletal X-rays revealed no vertebral abnormalities. They also developed contractures of the knee and elbow joints. The oldest brother had a large capillary hemangioma on the left cheek. Seizures and other neurologic problems were not reported. Both parents came from the same village in central Iran and were presumably related, although the precise relationship could not be determined. Kahrizi et al. (2009) assumed a third-cousin relationship for linkage analysis. Mapping By linkage analysis, followed by haplotype analysis, of an Iranian family with syndromic mental retardation, Kahrizi et al. (2009) identified a 10.4-Mb region of homozygosity on chromosome 4p12-q12 between SNPs rs728293 and rs1105434 (parametric lod score of 3.38; nonparametric lod score of 4.53). Molecular Genetics In 3 sibs, born of consanguineous Iranian parents, with Kahrizi syndrome (Kahrizi et al., 2009), Kahrizi et al. (2011}) identified a homozygous truncating mutation in the SRD5A3 gene (611715.0006). RT-PCR analysis showed missing or reduced expression of the SRD5A3 gene in patient lymphoblastoid cells. However, biochemical studies showed no clear abnormal transferrin mobility in routine testing for congenital defects of glycosylation. The mutation was identified by array-based exon enrichment and next-generation sequencing. INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Iris coloboma \- Cataracts Nose \- Bulbous nose \- Broad nasal bridge Mouth \- Thick lips SKELETAL \- Joint contractures Spine \- Thoracic kyphosis Limbs \- Knee contractures \- Elbow contractures SKIN, NAILS, & HAIR Skin \- Capillary hemangioma (in 1 patient) NEUROLOGIC Central Nervous System \- Mental retardation, severe \- Delayed motor development \- Speech never acquired MISCELLANEOUS \- Three affected sibs have been reported \- Onset of cataracts in late adolescence \- Onset of kyphosis in childhood MOLECULAR BASIS \- Caused by mutation in the steroid 5-alpha-reductase 3 gene (SRD5A3, 611715.0006 ). ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	KAHRIZI SYNDROME	c2675185	26,159	omim	https://www.omim.org/entry/612713	2019-09-22T16:01:05	{"doid": ["0050807"], "mesh": ["C567196"], "omim": ["612713"], "orphanet": ["168972"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE"]}
Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Pilocytic astrocytoma	c0334583	26,160	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251612	2021-01-23T17:07:47	{"gard": ["9808"], "mesh": ["D001254"], "umls": ["C0334583"], "icd-10": ["C71.9"]}
Adenosine monophosphate deaminase deficiency type 1 Other namesMyoadenylate deaminase deficiency Adenosine monophosphate Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase,[1] in sufficent quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency or MADD. While it is usually a recessive genetic disorder, there is also a rarer, acquired form of AMP deficiency.[citation needed] The genetic form of AMPD1 is caused by a defect in the genetic mechanism for production of AMP deaminase, is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP).[2] While it affects approximately 1–2% of people in populations of predominantly European descent,[2] the disorder appears to be considerably rarer in Asian populations.[2] ## Contents * 1 Symptoms and signs * 1.1 Potential complications * 2 Causes * 3 Mechanism * 4 Diagnosis * 5 Treatment * 6 References * 7 Further reading * 8 External links ## Symptoms and signs[edit] For reasons that are not understood, many people with defective variants of the AMPD genes are asymptomatic, while others have symptoms including exercise intolerance, and/or muscle pain and cramping.[1] Fatigue * MADD lowers aerobic power output, so increased anaerobic power is needed to perform the same amount of work.[citation needed] * Without myoadenlyate deaminase, heavy activity causes adenosine to be released into the cell or perfused into the surrounding tissues. Fatigue and sedation after heavy exertion can be caused by excess adenosine in the cells which signals muscle fiber to feel fatigued. In the brain, excess adenosine decreases alertness and causes sleepiness. In this way, adenosine may play a role in fatigue from MADD.[3] * Recovery from over-exertion can be hours, days or even months. In cases of rhabdomyolysis, which is the rapid breakdown of muscle fibers, time to recovery is dependent on duration and intensity of original activity plus any excess activity during the recovery period.[citation needed] Muscle pain * Muscle pain from MADD is not well understood, but is partially due to high levels of lactate. Increased levels of free adenosine temporarily decrease pain, allowing over-exertion without awareness.[4] The over exertion can cause mild to severe cases of rhabdomyolysis, which is painful.[5] * Adenosine mediates pain through adenosine receptors. MADD causes an increase of free adenosine during heavy activity which may cause exercise-induced muscle pain. Over time, excess free adenosine down-regulates primary A1 adenosine receptors, leading to increased muscle pain. Secondary receptors (A3) increase peripheral inflammation, which also increases pain.[6][7] Muscle cramping * The cause of cramping is unknown, but may be related to elevated lactate, increased calcium signaling across the sarcoplasmic reticulum caused by membrane instability from reduced levels of ATP, or increased levels of free adenosine.[8] Muscle weakness * Muscle weakness is not a major symptom, though the progressive effects of chronic muscle damage from rhabdomyolysis will eventually cause significant weakness. Similarly, the long-term metabolic effects may result in nerve damage.[5] ### Potential complications[edit] There is an increased risk that statin (cholesterol-reducing drugs) will cause myopathy (muscle weakness) in individuals with MADD.[9] Anesthesia has the potential to cause malignant hyperthermia, an uncontrolled increase in body temperature, and permanent muscle damage in patients with MADD. Individuals with MADD are advised to notify their anesthesiologist about their condition prior to surgery.[5] In most cases where myopathy is present with MADD, a second muscle disease is present and symptoms are worse than either disease in isolation.[10][11] ## Causes[edit] AMP deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process. It is a part of the metabolic process that converts sugar, fat, and protein into cellular energy. In order to use energy, a cell converts one of the above fuels into adenosine triphosphate (ATP) via the mitochondria. Cellular processes, especially muscles, then convert the ATP into adenosine diphosphate (ADP), freeing the energy to do work.[citation needed] During heavy or prolonged mild to moderate activity, other enzymes convert two molecules of ADP into one ATP molecule and one AMP molecule, making more ATP available to supply energy. AMP is normally converted into IMP by myoadenylate deaminase—so myoadenylate deaminase deficiency reduces energy that would be available to the cell through the purine nucleotide cycle. Instead of being converted to IMP, the AMP builds up in the cells of affected individuals, spills into the blood, and is eventually metabolized in the liver[citation needed]. In persons with a defective enzyme, 5'-nucleotidase removes the ribose and phosphorus from AMP, increasing levels of adenosine measured in muscle cells by ~16–25×, after exercise.[12][13] ## Mechanism[edit] This section possibly contains original research. Please improve it by verifying the claims made and adding inline citations. Statements consisting only of original research should be removed. (November 2014) (Learn how and when to remove this template message) This failure to deaminate the AMP molecules has three major effects. First, significant amounts of AMP are lost from the cell and the body. Second, ammonia is not freed when the cell does work. Third, the level of IMP in the cell is not maintained. * The first effect—the loss of AMP—is mostly significant because AMP contains ribose, a sugar molecule that is also used to make DNA, RNA, and some enzymes. Though the body can manufacture some ribose and obtain more from RNA-rich sources such as beans and red meat, this loss of ribose due to MADD is sometimes sufficient to create a shortage in the body, resulting in symptoms of severe fatigue and muscle pain. This outcome is especially likely if the individual regularly exercises vigorously or works physically over a period of weeks or months. * The second effect, the absence of ammonia, is not well understood. It may result in a reduction of the amount of fumarate available to the citric acid cycle, and it may result in lower levels of nitric oxide (a vasodilator) in the body, reducing blood flow and oxygen intake during vigorous exercise, though this may be offset by increased levels of adenosine, another vasodilator.[14] * The third effect, the reduction in IMP, is also not well understood. It may somehow result in a reduction in the amount of lactic acid produced by the muscles, though serum lactate is typically slightly elevated with MADD.[citation needed] The following is a very simplified model of what may be going on inside a muscle cell with AMPD deficiency. There are two major semi-stable states: one with intra-cellular glycogen available, and one with glycogen exhausted. Both states are modified by how much the citric acid cycle is down-regulated by default. Start from the state where glycogen is available and the citric acid cycle is severely down-regulated. Once the cell has received a non-trivial load, and has expended the phosphocreatine reserve, a small quantity of ATP will become discharged down to AMP. AMP will instantly up-regulate myophosphorylase, which will start liberating glucose from glycogen and make it available to the glycolytic pathway, producing pyruvate and recharging AMP back to ATP. Due to the greater availability of pyruvate as a substrate, and pyruvate also contributing a citric acid cycle intermediate, α-ketoglutarate, while consuming glutamate, the citric acid cycle will also speed up. The combination of glycolysis and the citric acid cycle now balances ATP production with ATP demand and the pool of AMP does not grow further. Because all pyruvate is not burned down in the citric acid cycle — a consequence of the pyruvate's concentration regulating its burning at this moment — the excess is converted to lactate and passed into blood as lactic acid. In muscle cells with normal AMPD activity, the purine nucleotide cycle would now start to gradually add fumarate to the pool of the citric acid cycle intermediates. This would decrease the excess rate of pyruvate production by increasing its consumption, increase the rate of AMP recharge to ATP by the citric acid cycle, and consequently reduce liberation of glucose from glycogen, until increased supply of blood-borne fuels allows to shut down glycogenolysis completely. In muscle cells with AMPD deficiency, ATP production rate of the citric acid cycle will not be synchronized with ATP demand. It was demonstrated,[15] that muscle cells, that lack AMPD1, stock and consume significantly more glutamate, and produce more alanine in this state, compared to healthy controls, which indicates occurrence of a higher concentration of pyruvate in the cell during exercise. The pool of AMP also grows bigger than in the controls, which would cause higher rate of glucose liberation from glycogen. This state can last for as long as glycogen is available, and can be prolonged by constantly eating carbohydrate-rich food. If the load on muscles is greater than the body's ability to recycle lactate back into glucose, lactate will start to build up in the blood. Once lactate reaches its renal re-absorption threshold (5–6 mmol/l in general population), it gets lost to urine, wasting many calories (and producing bright matte yellow particles on surfaces where urine dries). At about the same time the kidney will also start correcting blood acidity by acidifying urine. Overly acidic urine causes irritation that feels like a frequent urge to urinate (with little volume) and a "hot" urine. In order to excrete lactate, kidney must also excrete magnesium as an obligatory cation, which may lead to acute and chronic magnesium deficiency. Supplementary magnesium in the form of lactate or citrate may be rapidly lost in the same way. Because magnesium is essential to aerobic metabolism, over time, magnesium loss may lead to a vicious cycle, where the citric acid cycle is further down-regulated, lactate production is increased, and magnesium loss is increased again. Although probably unrelated to AMPD deficiency, if the person happens to have a high load of d-lactate in the blood (mostly from food and colonic fermentation), the precipitate, the lactate loss and the magnesium loss may occur even before l-lactate (mostly from muscles) reaches its renal re-absorption threshold. This happens because l-lactate and d-lactate compete with each other for renal re-absorption, and because d-lactate has a significantly lower renal re-absorption threshold, <1 mmol/l. In order to keep the excreted metabolites in solution, the kidney also has to excrete water. This is in contrast to complete oxidation of lactic acid, which would actually yield metabolic water for the body. This may lead to onset of acute thirst some tens of minutes into exercise in this state, if the water balance in the body was neutral initially. If the muscle load is small, lactate is mostly recycled back into glucose or burned by other cells in the body. However the newly generated glucose is made available to all cells in the body, not just to muscle cells. The ability of the body to assimilate lactate may also be diminished, if working muscle cells cannot take up glucose from blood, due to myophosphorylase maintaining a higher concentration of it inside loaded cells, and if liver has already filled its glycogen stores up to capacity. So, ultimately, in this state, working muscle cells are destined to lose all glycogen. AMP breakdown to adenosine in this state is minor, because the pool of AMP is kept small by the vigorous regulatory action of myophosphorylase. Maximum continuous exertion is limited by the onset of burning sensation from lactate accumulation in muscles. Eventually, all glycogen is exhausted, and the muscle cell enters another semi-stable state. During this transition, up-regulation of the citric acid cycle due to abundance of pyruvate is reversed, and a substantial part of the ATP pool is necessarily discharged down to AMP,[16] which allows the citric acid cycle to be sped up by some other mechanism (perhaps by the allosteric mechanism that reacts to the lower concentration of ATP, or by amplification of the residual AMPD activity by the bloated AMP pool), until ATP production is balanced with ATP consumption. AMP conversion to adenosine, excretion to the blood (as AMP and its various metabolites), further conversion to uric acid and excretion to urine becomes significant for some time, until all AMP is eliminated from the muscle cell. The muscle movements become noticeably less precise. Breathing slows down, and from this moment reacts very weakly to the load and not at all to the perceived effort. It becomes hard to rapidly increase the load on a muscle, as in McArdle's disease, and such a rapid load increase will dump even more purines into blood and urine (looking like translucent or rust-colored sharp shiny crystals and being highly irritating). The same situation would occur if blood flow to muscle cells becomes insufficient (except that somewhat less AMP is spilled over, and somewhat more of it is metabolized inside the muscle cell). On the other hand, there will be no lasting muscle pain from lactate, and continuous aerobic activity is possible. Oxidation of odd-numbered saturated fatty acids may provide another mechanism, although very gradual, to up-regulate citric acid cycle during exercise. As the short-term regulation of ATP production becomes very weak after the exhaustion of glycogen, the medium-term regulation becomes enabled, but with a progressively weaker authority at higher purine nucleotide energy charge levels, which causes some differences in symptoms compared to McArdle's. In McArdle's, the highly active AMP deaminase, which additionally experiences amplification from the bloated AMP pool due to the lack of the moderating effect of myophosphorylase, is able to produce a readily observable "second wind" phenomenon almost exactly 7 minutes after a significant load increment. In AMPD deficiency, glycogen-less muscles will feel mostly the same by the time they become able to take another load increment. A load decrement may produce some sense of relief, though, if the pool of the citric acid cycle intermediates built up so far is sufficient to maintain full purine nucleotide energy charge at the lower load. It is unclear, what, if anything, does it take to unknowingly trigger rhabdomyolysis at this point, assuming the muscle cell is otherwise healthy. Adenosine production and lack of ammonia overproduction seem to strongly suppress rhabdomyolysis down to the purine nucleotide energy charge level, where the cell is able to signal pain, or where individual muscle fibers start cramping (fail to relax from contraction in sync with the rest of the muscle), or the whole muscle fails to contract (when walking quickly downhill), allowing the person to appropriately modulate the exertion. Most of the AMP probably spills into blood unchanged, and is gradually returned to the muscle cell, if its concentration there falls due to gradual recharge to ATP. The blood thus plays a role of a big AMP buffer. Idle muscles may also take up some free AMP. The spillover also limits, how much the residual AMPD activity can be amplified in this state. Thus, it may take the residual AMPD activity less time to build up citric acid cycle intermediates, when the whole body is warmed up for an exercise at the same time, rather than a specific group of muscles needed in the exercise. In case of leg muscles, where circulation is substantially dependent on their cyclical contraction when the body is upright, a small but useful degree of initial up-regulation of the citric acid cycle may be achieved just by standing still for a few minutes. It is most useful when a long period of rest, or sitting in a vehicle, must be followed by brisk walking. If the person keeps standing still for longer, rather than restoring circulation in the leg muscles (e.g. by sitting down, walking, or cycling), the ammonia, produced by the amplified residual AMPD activity, may accumulate in the muscle cells and in the surrounding tissues to toxic levels, and may also indirectly affect other organs. There is little or no warning for nearing toxicity, because the purine nucleotide energy charge is still relatively high, the leg muscles do not cramp, and remain functional. In contrast, while muscle glycogen is available, accumulation of lactic acid in this situation would produce a noticeable sensation. On the other hand, in persons with balanced AMPD and myophosphorylase activities in muscle cells, lactic acid and ammonia are produced simultaneously, counteracting each other's effects to some degree. Some seldom used but strong voluntary muscles, such as those involved in "pushing" during the act of defecation, are not tuned for aerobic mode, and may dump plenty of purines during their short work routine, if it happens in this state. If a food containing even small but perceivable amount of sugar (simple sugars or disaccharides that can be tasted sweet, or starch that is at least minimally hydrolyzed by salivary amylase, or even some non-sugar sweeteners) is eaten in this state, there may be a period of time after it enters stomach and before bulk absorption occurs, when continuous exercise becomes very hard, and easily triggers rhabdomyolysis. It probably happens because the digestive system senses and signals forthcoming delivery of sugars, inhibiting fatty acid release and oxidation, and starving glycogen-less muscle cells of the sole available source of energy. Even simple continuous exercise, like walking or washing dishes by hand right after the meal, may trigger rhabdomyolysis in the exercising muscles. This rhabdomyolysis is probably not of exertional, but of hypoglycemic nature, as loaded glycogen-less muscles can rapidly remove glucose from blood, and the normal mechanism of glucose homeostasis lacks the required responsiveness or capacity to prevent hypoglycemia. The broken down myocytes probably do not yield much glucose. Unlike the case with exertional rhabdomyolisys, there is no warning. At rest, however, the liver will effortlessly cover the whole body energy needs until absorption of carbohydrates occurs. If a large group of muscles is still actively drawing fuels from blood after the most recent continuous exercise, in order to replenish the ATP and the phosphocreatine reserve, it may become sour without any additional exercise by the time the carbohydrate meal is finished. If the carbohydrate meal consists of a food (which doesn't need to be carbohydrate itself), that requires prolonged vigorous chewing, and then some time to be digested, for instance parboiled long grain rice, chewing may suddenly become very slow and difficult halfway through the meal. When a carbohydrate-rich food has been eaten before AMP has been eliminated from muscle cells, when bulk absorption starts, plenty of glucose becomes available in the blood, is taken up by muscle cells, is added to the glycogen store, but then immediately becomes liberated by the still up-regulated myophosphorylase. The resulting excess of glucose is metabolized down to lactic acid (the body cannot increase aerobic metabolism in an instant), recharging all AMP to ATP. The lactate is dumped back into blood and urine. The higher the glycemic index of the food is, the greater proportion of carbohydrates (and calories) is wasted into urine. If the person is at rest at this moment, and pays attention, a sudden increase in the breathing frequency due to lactate dumping is readily observable. If the rise in the blood lactate is particularly sharp, and the person happened to be breathing slowly, a heart palpitation may sometimes be observable. The lactic acidosis with palpitation may also occur during sleep, if stomach emptying has been delayed e.g. due to digestion requirements of the food or its high volume, and the person went to sleep before absorption has started. In this case the person will be awaken in a state of distress, with rapid breathing. The person may recall seeing a nightmare. Delayed stomach emptying creates especially favorable conditions for the shock lactic acidosis, because the digestive system may meanwhile still inhibit fatty acid release and oxidation, helping more muscles to run out of glycogen in those persons, who are otherwise still able to maintain its stores between meals. It has been experimentally demonstrated,[17] that delayed gastric emptying prolongs the duration of the GLP-1 signal. Notably, a small quantity of dietary fructose does not produce this effect (the lactic acidosis), as it is captured by liver and may be fully expended for replenishing liver glycogen. Once all AMP has been recharged to ATP, and glycogen stores allowed to replenish, the cell transitions back to the unmodified original state. If carbohydrate-rich food is not consumed in this state, AMP elimination from the cell eventually completes, glycogen stores can be replenished again, and the cell transitions back to the original state but with reduced ATP pool and an up-regulated citric acid cycle. It may be especially important to have adequate dietary iodine in the glycogen-less state, so that stomach emptying is not excessively delayed, the up-regulation of the citric acid cycle in muscle cells in response to a load increment is not too slow, and the muscles can each time accept a bigger load increment relative to the perceived effort. ## Diagnosis[edit] The diagnosis of MADD needs to be considered in patients suffering exercise induced myalgia, cramps and sometimes weakness. A mildly elevated creatine kinase may also occur. Exclusion of other muscular diseases such as McArdle's Disease and carnitine cycle abnormalities should occur. MADD may be identified if there is a lack of ammonia rise after forearm exercise testing. The diagnosis may then be confirmed with genetic testing.[citation needed] ## Treatment[edit] It is important for MADD patients to maintain strength and fitness without exercising or working to exhaustion. Learning this balance may be more difficult than normally, as muscle pain and fatigue may be perceived differently from normal individuals.[18] Symptomatic relief from the effects of MADD may sometimes be achieved by administering ribose orally at a dose of approximately 10 grams per 100 pounds (0.2 g/kg) of body weight per day, and exercise modulation as appropriate. Taken hourly, ribose provides a direct but limited source of energy for the cells. Patients with myoadenylate deaminase deficiency do not retain ribose during heavy exercise, so supplementation may be required to rebuild levels of ATP.[19][20] Creatine monohydrate could also be helpful for AMPD patients, as it provides an alternative source of energy for anaerobic muscle tissue and was found to be helpful in the treatment of other, unrelated muscular myopathies.[21] ## References[edit] 1. ^ a b "Metabolic Diseases of Muscle - Myoadenylate deaminase deficiency \| Muscular Dystrophy Association". Muscular Dystrophy Association. 18 December 2015. Retrieved 10 June 2017. 2. ^ a b c "Adenosine monophosphate deaminase deficiency". Genetics Home Reference. United States National Library of Medicine. July 2008. 3. ^ Morisaki, H; Morisaki, T (2008). "AMPD genes and urate metabolism". Nihon Rinsho. Japanese Journal of Clinical Medicine. 66 (4): 771–7. PMID 18409530. 4. ^ Belfrage, Måns; Sollevi, Alf; Segerdahl, Märta; Sjölund, Karl-Fredrik; Hansson, Per (1995). "Systemic Adenosine Infusion Alleviates Spontaneous and Stimulus Evoked Pain in Patients with Peripheral Neuropathic Pain". Anesthesia & Analgesia. 81 (4): 713–7. doi:10.1097/00000539-199510000-00010. PMID 7573999. S2CID 23963005. 5. ^ a b c "Facts About Metabolic Diseases of Muscle" (PDF). Muscular Dystrophy Association. December 2009. Archived from the original (PDF) on 2011-09-27. 6. ^ Li, Xinhui; Bantel, Carsten; Conklin, Dawn; Childers, Steven R.; Eisenach, James C. (2004). "Repeated Dosing with Oral Allosteric Modulator of Adenosine A1 Receptor Produces Tolerance in Rats with Neuropathic Pain". Anesthesiology. 100 (4): 956–61. doi:10.1097/00000542-200404000-00028. PMID 15087633. S2CID 35764254. 7. ^ Fredholm, B. B.; Halldner, L.; Johansson, C.; Schulte, G.; Lövdahl, C.; Thorén, P.; Dunwiddie, T. V.; Masino, S. A.; Poelchen, W.; Diao, L.; Illes, P.; Zahniser, N. R.; Valen, G.; Tokuno, S.; Sommerschild, H.; Giménez-Llort, L.; Fernández-Teruel, A.; Escorihuela, R. M.; Wiesenfeld-Hallin, Z.; Xu, X. J.; Hårdemark, A.; Herlenius, E.; Pekny, M.; Gebré-Medhin, S.; Brown, R.; Ollerstam, A.; Persson, A. E. G.; Skøtt, O.; Johansson, B. R. (2003). "Consequences of eliminating adenosine A1 receptors in mice". Drug Development Research. 58 (4): 350–353. doi:10.1002/ddr.10170. 8. ^ Blazev R, Lamb GD (December 1999). "Adenosine inhibits depolarization-induced Ca(2+) release in mammalian skeletal muscle". Muscle Nerve. 22 (12): 1674–83. doi:10.1002/(SICI)1097-4598(199912)22:12<1674::AID-MUS9>3.0.CO;2-0. PMID 10567080. 9. ^ Vladutiu, Georgirene D.; Simmons, Zachary; Isackson, Paul J.; Tarnopolsky, Mark; Peltier, Wendy L.; Barboi, Alexandru C.; Sripathi, Naganand; Wortmann, Robert L.; Phillips, Paul S. (2006). "Genetic risk factors associated with lipid-lowering drug-induced myopathies". Muscle & Nerve. 34 (2): 153–62. doi:10.1002/mus.20567. PMID 16671104. 10. ^ Vockley, Jerry; Rinaldo, Piero; Bennett, Michael J.; Matern, Dietrich; Vladutiu, Georgirene D. (2000). "Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways". Molecular Genetics and Metabolism. 71 (1–2): 10–8. doi:10.1006/mgme.2000.3066. PMID 11001791. 11. ^ Sabina, Richard L. (2000). "MYOADENYLATE DEAMINASE DEFICIENCY: A Common Inherited Defect with Heterogeneous Clinical Presentation". Neurologic Clinics. 18 (1): 185–94. doi:10.1016/S0733-8619(05)70184-5. PMID 10658174. 12. ^ Sabina, R L; Swain, J L; Olanow, C W; Bradley, W G; Fishbein, W N; Dimauro, S; Holmes, E W (1984). "Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle". Journal of Clinical Investigation. 73 (3): 720–30. doi:10.1172/JCI111265. PMC 425074. PMID 6707201. 13. ^ Loh, Evan (2000). "AMPD1 Genotype Predicts Survival in Patients with Heart Failure". Japanese Circulation Society. 14. ^ Costa F, Biaggioni I (May 1998). "Role of nitric oxide in adenosine-induced vasodilation in humans". Hypertension. 31 (5): 1061–4. doi:10.1161/01.HYP.31.5.1061. PMID 9576114. 15. ^ Tarnopolsky, Mark A.; Parise, Gianni; Gibala, Martin J.; Graham, Terry E.; Rush, James W. E. (15 June 2001). "Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans". The Journal of Physiology. 533 (3): 881–889. doi:10.1111/j.1469-7793.2001.t01-1-00881.x. PMC 2278656. PMID 11410643. 16. ^ Sabina, Richard L.; Swain, Judith L.; Patten, Bernard M.; Ashizawa, Tetsuo; O'Brien, William E.; Holmes, Edward W. (1 December 1980). "Disruption of the Purine Nucleotide Cycle". Journal of Clinical Investigation. 66 (6): 1419–1423. doi:10.1172/JCI109995. PMC 371628. PMID 7440723. 17. ^ Frost, GS; Brynes, AE; Dhillo, WS; Bloom, SR; McBurney, MI (February 2003). "The effects of fiber enrichment of pasta and fat content on gastric emptying, GLP-1, glucose, and insulin responses to a meal". European Journal of Clinical Nutrition. 57 (2): 293–8. doi:10.1038/sj.ejcn.1601520. PMID 12571662. 18. ^ Lang, Robert (1998). "What is this Adenosine stuff?". Australasian Anaesthesia. ISSN 1032-2515. Archived from the original on 2011-10-20. Retrieved 2011-08-14. 19. ^ Wagner, D.R.; Gresser, U.; Zöllner, N. (1991). "Effects of Oral Ribose on Muscle Metabolism during Bicycle Ergometer in AMPD-Deficient Patients". Annals of Nutrition and Metabolism. 35 (5): 297–302. doi:10.1159/000177660. PMID 1776826. 20. ^ Zöllner, N.; Reiter, S.; Gross, M.; Pongratz, D.; Reimers, C. D.; Gerbitz, K.; Paetzke, I.; Deufel, T.; Hübner, G. (1986). "Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose". Klinische Wochenschrift. 64 (24): 1281–90. doi:10.1007/BF01785710. PMID 3102830. S2CID 35397362. 21. ^ Tarnopolsky, Mark A. (2007). "Clinical Use of Creatine in Neuromuscular and Neurometabolic Disorders". In Salomons, Gajja S.; Wyss, Markus (eds.). Creatine and Creatine Kinase in Health and Disease. Subcellular Biochemistry. 46. pp. 183–204. doi:10.1007/978-1-4020-6486-9_10. ISBN 978-1-4020-6485-2. PMID 18652078. ## Further reading[edit] * Fischer, H.; Esbjornsson, M.; Sabina, R. L.; Stromberg, A.; Peyrard-Janvid, M.; Norman, B. (2007). "AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects". Journal of Applied Physiology. 103 (1): 315–22. doi:10.1152/japplphysiol.00185.2007. PMID 17463303. * Skalova, K; Luptak, I; Turcani, M; Hulin, I (2002). "Adenosine and cardioprotection: what can we learn from nature's genetic polymorphism?" (PDF). Bratislavske Lekarske Listy. 103 (6): 187–93. PMID 12448564. Archived from the original (PDF) on 2012-03-23. Retrieved 2011-08-12. ## External links[edit] Classification D * ICD-10: G71.3 * OMIM: 102770 * MeSH: C538234 External resources * Orphanet: 45 * v * t * e Inborn error of purine–pyrimidine metabolism Purine metabolism Anabolism * Adenylosuccinate lyase deficiency * Adenosine Monophosphate Deaminase Deficiency type 1 Nucleotide salvage * Lesch–Nyhan syndrome/Hyperuricemia * Adenine phosphoribosyltransferase deficiency Catabolism * Adenosine deaminase deficiency * Purine nucleoside phosphorylase deficiency * Xanthinuria * Gout * Mitochondrial neurogastrointestinal encephalopathy syndrome Pyrimidine metabolism Anabolism * Orotic aciduria * Miller syndrome Catabolism * Dihydropyrimidine dehydrogenase deficiency [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Adenosine monophosphate deaminase deficiency type 1	c2931781	26,161	wikipedia	https://en.wikipedia.org/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1	2021-01-18T18:28:57	{"mesh": ["C538234"], "umls": ["C2931781", "C0268123"], "orphanet": ["45"], "wikidata": ["Q1956662"]}
This article is about the genetic disease of the blood, not MacLeod's syndrome (the lung disease). McLeod syndrome Other namesMcLeod phenomenon McLeod syndrome is inherited in an X-linked recessive manner.[1] McLeod syndrome (pronounced /məˈklaʊd/) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface. ## Contents * 1 Presentation * 2 Genetics * 3 Diagnosis * 3.1 Laboratory features * 3.2 Radiologic and pathologic features * 4 Treatment * 5 Prognosis * 6 Epidemiology * 7 History * 8 References * 9 External links ## Presentation[edit] Patients usually begin to notice symptoms in their 50s and the course is usually slowly progressive. Common features include peripheral neuropathy, cardiomyopathy, and hemolytic anemia. Other features include limb chorea, facial tics, other oral movements (lip and tongue biting), seizures, a late-onset dementia, and behavioral changes.[citation needed] ## Genetics[edit] The McLeod phenotype is a recessive mutation of the Kell blood group system. The McLeod gene encodes the XK protein, which is located on the X chromosome,[2] and has the structural characteristics of a membrane transport protein but an unknown function. Absence of the XK protein is an X-linked disease.[3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases.[4] The phenotype may be present without the syndrome presenting.[5] ## Diagnosis[edit] ### Laboratory features[edit] McLeod syndrome is one of only a few disorders in which acanthocytes may be found on the peripheral blood smear. Blood evaluation may show signs of hemolytic anemia. Elevated creatine kinase can be seen with myopathy in McLeod syndrome.[citation needed] ### Radiologic and pathologic features[edit] MRI shows increased T2 signal in the lateral putamen with caudate atrophy and secondary lateral ventricular dilation. Necropsy shows loss of neurons and gliosis in the caudate and globus pallidus. Similar changes may also be seen in the thalamus, substantia nigra, and putamen. The cerebellum and cerebral cortex are generally spared. ## Treatment[edit] There is no cure for McLeod syndrome; the treatment is supportive depending on symptoms. Medication may assist with management of epilepsy, and cardiac and psychiatric features, although patients may respond poorly to treatment for chorea.[citation needed] ## Prognosis[edit] A typical patient with severe McLeod syndrome that begins in adulthood lives for an additional 5 to 10 years. Patients with cardiomyopathy have elevated risk for congestive heart failure and sudden cardiac death. The prognosis for a normal life span is often good in some patients with mild neurological or cardiac sequelae.[6] ## Epidemiology[edit] McLeod syndrome is present in 0.5 to 1 per 100,000 of the population. McLeod males have variable acanthocytosis due to a defect in the inner leaflet bilayer of the red blood cell, as well as mild hemolysis. McLeod females have only occasional acanthocytes and very mild hemolysis; the lesser severity is thought to be due to X chromosome inactivation via the Lyon effect. Some individuals with McLeod phenotype develop myopathy, neuropathy, or psychiatric symptoms, producing a syndrome that may mimic chorea.[7][8] McLeod syndrome can cause an increase in the enzymes creatine kinase (CK) and lactate dehydrogenase (LDH) found in routine blood screening.[9] ## History[edit] McLeod syndrome was discovered in 1961 and, as with the Kell antigen system, was named after the first patient in which it was found: Harvard dental student Hugh McLeod, whose red blood cells were observed to have weak expression of Kell system antigens during blood donation, and found to be acanthocytic (spiky) under the microscope.[10] The wives of King Henry VIII of England show a pattern of pregnancies and infant deaths, which with his mental deterioration suggest that the king may have been Kell positive and suffered from McLeod syndrome.[11] ## References[edit] 1. ^ Reference, Genetics Home. "McLeod neuroacanthocytosis syndrome". Genetics Home Reference. Retrieved 1 November 2017. 2. ^ Arnaud L, Salachas F, Lucien N, et al. (March 2009). "Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome". Transfusion. 49 (3): 479–84. doi:10.1111/j.1537-2995.2008.02003.x. PMID 19040496. 3. ^ Ho MF, Monaco AP, Blonden LA, et al. (February 1992). "Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21". Am. J. Hum. Genet. 50 (2): 317–30. PMC 1682457. PMID 1734714. 4. ^ Marsh WL, Oyen R, Nichols ME, Allen FH (February 1975). "Chronic granulomatous disease and the Kell blood groups". Br. J. Haematol. 29 (2): 247–62. doi:10.1111/j.1365-2141.1975.tb01819.x. PMID 1191546. 5. ^ Walker RH, Danek A, Uttner I, Offner R, Reid M, Lee S (February 2007). "McLeod phenotype without the McLeod syndrome". Transfusion. 47 (2): 299–305. doi:10.1111/j.1537-2995.2007.01106.x. PMID 17302777. 6. ^ Hewer, E; Danek, A; Schoser, B. G.; Miranda, M; Reichard, R; Castiglioni, C; Oechsner, M; Goebel, H. H.; Heppner, F. L.; Jung, H. H. (2007). "Mc Leod myopathy revisited: More neurogenic and less benign". Brain. 130 (Pt 12): 3285–96. doi:10.1093/brain/awm269. PMID 18055495. 7. ^ Danek A, Rubio JP, Rampoldi L, et al. (December 2001). "McLeod neuroacanthocytosis: genotype and phenotype". Ann. Neurol. 50 (6): 755–64. doi:10.1002/ana.10035. PMID 11761473. 8. ^ Malandrini A, Fabrizi GM, Truschi F, et al. (June 1994). "Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy, and dilated cardiomyopathy: report of a family". J. Neurol. Sci. 124 (1): 89–94. doi:10.1016/0022-510X(94)90016-7. PMID 7931427. S2CID 27859436. 9. ^ Oechsner M, G. Winkler G, A. Danek A, "McLeod neuroacanthocytosis: An underdiagnosed syndrome?" International communication forum in human molecular genetics September 6, 1995 10. ^ Allen FH, Krabbe SM, Corcoran PA (September 1961). "A new phenotype (McLeod) in the Kell blood-group system". Vox Sang. 6 (5): 555–60. doi:10.1111/j.1423-0410.1961.tb03203.x. PMID 13860532. 11. ^ "Discovery News: Henry VIII's eccentricities possibly explained". ## External links[edit] * GeneReview/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome Classification D * OMIM: 314850 * MeSH: C564038 * DiseasesDB: 29708 External resources * GeneReviews: McLeod Neuroacanthocytosis Syndrome * v * t * e X-linked disorders X-linked recessive Immune * Chronic granulomatous disease (CYBB) * Wiskott–Aldrich syndrome * X-linked severe combined immunodeficiency * X-linked agammaglobulinemia * Hyper-IgM syndrome type 1 * IPEX * X-linked lymphoproliferative disease * Properdin deficiency Hematologic * Haemophilia A * Haemophilia B * X-linked sideroblastic anemia Endocrine * Androgen insensitivity syndrome/Spinal and bulbar muscular atrophy * KAL1 Kallmann syndrome * X-linked adrenal hypoplasia congenita Metabolic * Amino acid: Ornithine transcarbamylase deficiency * Oculocerebrorenal syndrome * Dyslipidemia: Adrenoleukodystrophy * Carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency * Pyruvate dehydrogenase deficiency * Danon disease/glycogen storage disease Type IIb * Lipid storage disorder: Fabry's disease * Mucopolysaccharidosis: Hunter syndrome * Purine–pyrimidine metabolism: Lesch–Nyhan syndrome * Mineral: Menkes disease/Occipital horn syndrome Nervous system * X-linked intellectual disability: Coffin–Lowry syndrome * MASA syndrome * Alpha-thalassemia mental retardation syndrome * Siderius X-linked mental retardation syndrome * Eye disorders: Color blindness (red and green, but not blue) * Ocular albinism (1) * Norrie disease * Choroideremia * Other: Charcot–Marie–Tooth disease (CMTX2-3) * Pelizaeus–Merzbacher disease * SMAX2 Skin and related tissue * Dyskeratosis congenita * Hypohidrotic ectodermal dysplasia (EDA) * X-linked ichthyosis * X-linked endothelial corneal dystrophy Neuromuscular * Becker's muscular dystrophy/Duchenne * Centronuclear myopathy (MTM1) * Conradi–Hünermann syndrome * Emery–Dreifuss muscular dystrophy 1 Urologic * Alport syndrome * Dent's disease * X-linked nephrogenic diabetes insipidus Bone/tooth * AMELX Amelogenesis imperfecta No primary system * Barth syndrome * McLeod syndrome * Smith–Fineman–Myers syndrome * Simpson–Golabi–Behmel syndrome * Mohr–Tranebjærg syndrome * Nasodigitoacoustic syndrome X-linked dominant * X-linked hypophosphatemia * Focal dermal hypoplasia * Fragile X syndrome * Aicardi syndrome * Incontinentia pigmenti * Rett syndrome * CHILD syndrome * Lujan–Fryns syndrome * Orofaciodigital syndrome 1 * Craniofrontonasal dysplasia [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	McLeod syndrome	c0398568	26,162	wikipedia	https://en.wikipedia.org/wiki/McLeod_syndrome	2021-01-18T18:58:56	{"gard": ["10731"], "mesh": ["C564038"], "umls": ["C0398568", "C3151853"], "orphanet": ["59306"], "wikidata": ["Q966149"]}
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Noonan-like syndrome with loose anagen hair	c1843181	26,163	gard	https://rarediseases.info.nih.gov/diseases/10719/noonan-like-syndrome-with-loose-anagen-hair	2021-01-18T17:58:40	{"omim": ["607721"], "umls": ["C1843181"], "orphanet": ["2701"], "synonyms": []}
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1II (CMD1II) is caused by heterozygous mutation in the CRYAB gene (123590) on chromosome 11q23. Clinical Features Inagaki et al. (2006) studied a 71-year-old Japanese woman with mild, late-onset dilated cardiomyopathy (CMD) who developed cardiac symptoms only after the fourth decade of life. Her electrocardiogram (ECG) showed ventricular tachycardia, with apparent inverted T waves in leads V4 to V6. She had 6 sibs, 2 of whom had CMD at ages 56 and 66 years; 2 other sibs had sudden cardiac death at ages 60 and 72 years. Pilotto et al. (2006) reported a 48-year-old woman with mild, late-onset CMD, characterized by mild left ventricular dilation, moderately decreased ejection fraction, mild mitral regurgitation, and mildly increased serum CPK (279 U/l). ECG showed sinus rhythm and negative T waves in the precordial leads (V4 to V6). Cataract was absent. The patient's father died at age 80 after a 20-year history of congestive heart failure due to CMD. Pilotto et al. (2006) noted that the minimally increased serum CPK in this patient suggested possible subclinical muscle involvement. Molecular Genetics In 130 unrelated Japanese patients with dilated cardiomyopathy, including 36 familial cases, who were negative for mutations in known CMD genes, Inagaki et al. (2006) analyzed the CRYAB gene (123590) and identified a heterozygous missense mutation (R157H; 123590.0006) in a 71-year-old woman with mild, late-onset disease. Pilotto et al. (2006) screened the CRYAB gene in 200 consecutive patients diagnosed with autosomal dominant or sporadic CMD, and identified a heterozygous missense mutation (G154S; 123590.0007) in a 48-year-old woman with recently diagnosed CMD. DNA was unavailable from her father, who died at age 80 after a 20-year history of congestive heart failure due to CMD. INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Cardiomyopathy, dilated, mild \- Left ventricular dilation, mild \- Decreased ejection fraction \- Mitral regurgitation, mild \- Inverted T-waves in precordial leads on electrocardiography MISCELLANEOUS \- Onset of disease after fourth decade of life MOLECULAR BASIS \- Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0006 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	CARDIOMYOPATHY, DILATED, 1II	c0340427	26,164	omim	https://www.omim.org/entry/615184	2019-09-22T15:52:59	{"doid": ["0110450"], "mesh": ["C536231"], "omim": ["615184"], "orphanet": ["154"]}
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Mosaic trisomy 14	c2930917	26,165	gard	https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14	2021-01-18T17:58:59	{"mesh": ["C535489"], "umls": ["C2930917"], "orphanet": ["1703"], "synonyms": ["Mosaic trisomy chromosome 14", "Trisomy 14 mosaicism"]}
Medical condition Hypergammaglobulinemia SpecialtyImmunology, hematology Hypergammaglobulinemia is a medical condition with elevated levels of gamma globulin. It is a type of immunoproliferative disorder. ## Contents * 1 Types * 1.1 Type 1 * 1.2 Type 2 * 1.3 Type 3 * 1.4 Type 4 * 1.5 Type 5 * 2 See also * 3 References * 4 External links ## Types[edit] Hypergammaglobulinemia is a condition that is characterized by the increased levels of a certain immunoglobulin in the blood serum.[1] The name of the disorder refers to an excess of proteins after serum protein electrophoresis (found in the gammaglobulin region). Most hypergammaglobulinemias are caused by an excess of immunoglobulin M (IgM), because this is the default immunoglobulin type prior to class switching. Some types of hypergammaglobulinemia are actually caused by a deficiency in the other major types of immunoglobulins, which are IgA, IgE and IgG. There are 5 types of hypergammaglobulinemias associated with hyper IgM.[2] MeSH considers hyper IgM syndrome to be a form of dysgammaglobulinemia, not a form of hypergammaglobulinemia. ### Type 1[edit] X-linked immunodeficiency with hyper–immunoglobulin M, which is also called type 1 hyper IgM, is a rare form of primary immunodeficiency disease caused by a mutation in the Tumor Necrosis Factor Super Family member 5 (TNFSF5) gene, which codes for CD40 ligand. This gene is located on the long arm of the X chromosome at position 26, denoted Xq26.[3] Normally, CD40 ligand is expressed on activated T cells, and is necessary to induce immunoglobulin class switching from IgM to the other immunoglobulin types. It does this by binding to its ligand, CD40, which is found expressed on the surface of B cells.[4] The mutation in the TNFSF5 gene causes there to be no recognition of CD40 by CD40 ligand, and thus the T cells do not induce Ig class switching in B cells, so there are markedly reduced levels of IgG, IgA, and IgE, but have normal or elevated levels of IgM. CD40 ligand is also required in the functional maturation of T lymphocytes and macrophages, so patients with this disorder have a variable defect in T-lymphocyte and macrophage effector function, as well as hyper IgM.[4] ### Type 2[edit] Immunodeficiency with hyper IgM type 2 is caused by a mutation in the Activation-Induced Cytidine Deaminase (AICDA) gene, which is located on the short arm of chromosome 12. The protein that is encoded by this gene is called Activation-Induced Cytidine Deaminase (AICDA) and functions as a DNA-editing deaminase that induces somatic hypermutation, class switch recombination, and immunoglobulin gene conversion in B cells.[5] When a person is homozygous for the mutation in the AICDA gene, the protein fails to function, and thus somatic hypermutation, class switch recombination, and immunoglobulin gene conversion cannot occur, which creates an excess of IgM.[2] ### Type 3[edit] Immunodeficiency with hyper IgM type 3 is caused by a mutation in the gene that codes for CD40. As mentioned above, CD40 is expressed on the surface of B cells, and its binding to CD40 ligand on activated T cells induces Ig class switching.[4] When the mutation is present, there is no signal for B cells to undergo class switching, so there is an excess of IgM and little to no other immunoglobulin types produced.[2] ### Type 4[edit] Immunodeficiency with hyper IgM type 4 is poorly characterized. All that is known is that there is an excess of IgM in the blood, with normal levels of the other immunoglobulins. The exact cause is yet to be determined.[2] ### Type 5[edit] Immunodeficiency with hyper IgM type 5 is caused by a mutation in the Uracil-DNA glycosylase (UNG) gene, which, like AICDA, is located on chromosome 12. This codes for Uracil DNA Glycosylase, which is responsible for excising previous uracil bases that are due to cytosine deamination, or previous uracil misincorporation from double-stranded previous DNA substrates. This enzyme is also responsible for helping with gene conversion during somatic recombination in B cells. The mutation in the gene causes an enzyme that does not function properly, thus gene conversion does not proceed and class switching cannot occur.[2] ## See also[edit] * Monoclonal gammopathy of undetermined significance ## References[edit] 1. ^ Health Communication Network. Immunoproliferative disorders- Topic Tree. http://www.use.hcn.com.au/subject.%60Immunoproliferative%20Disorders%60/home.html. Accessed March 2007. 2. ^ a b c d e Online Mendelian Inheritance in Man (OMIM): Immunodeficiency with hyper IgM - 308230 3. ^ Park LC X-linked Immunodeficiency with hyper IgM at eMedicine 4. ^ a b c Lichtman, Andrew H.; Abbas, Abul K. (2003). Cellular and molecular immunology (5th ed.). Philadelphia: Saunders. ISBN 0-7216-0008-5. 5. ^ Noguchi E, Shibasaki M, Inudou M, et al. (2001). "Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels". J. Allergy Clin. Immunol. 108 (3): 382–6. doi:10.1067/mai.2001.117456. PMID 11544457. ## External links[edit] Classification D * ICD-10: D89.0, D89.2 * ICD-9-CM: 289.89 * MeSH: D006942 * SNOMED CT: 191396003 * v * t * e Immunoproliferative immunoglobulin disorders PCDs/PP * Plasmacytoma * Multiple myeloma (Plasma cell leukemia) * MGUS * IgM (Macroglobulinemia/Waldenström's macroglobulinemia) * heavy chain (Heavy chain disease) * light chain (Primary amyloidosis) Other hypergammaglobulinemia * Cryoglobulinemia [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Hypergammaglobulinemia	c0020455	26,166	wikipedia	https://en.wikipedia.org/wiki/Hypergammaglobulinemia	2021-01-18T18:29:22	{"mesh": ["D006942"], "umls": ["C1306857", "C0020455", "C2048011", "C0151669", "C0541985"], "wikidata": ["Q17146775"]}
Medical condition affecting the cervical spine Craniocervical instability is a medical condition where there is excessive movement of the vertebrae at the atlanto-occipital joint and the atlanto-axial joint, that is, between the skull and the top two vertebrae (C1 and C2).[citation needed] This can cause neuronal injury and compression of nearby structures including the spinal cord, vertebral artery or vagus nerve, causing a constellation of symptoms. It is frequently co-morbid with atlanto-axial instability, Chiari malformation[1] and tethered cord syndrome. It is more common in people with a connective tissue disease, notably Ehlers-Danlos Syndrome,[2] osteogenesis imperfecta and rheumatoid arthritis.[3] It can be brought on by a trauma, frequently whiplash; laxity of the ligaments surrounding the joint; or other damage to the surrounding connective tissue. ## Contents * 1 Symptoms and signs * 2 Diagnosis * 3 Treatment * 4 References ## Symptoms and signs[edit] The impact of craniocervical instability can range from minor symptoms to severe disability, with some patients being bed-bound. The constellation of symptoms caused by craniocervical instability has been labelled the cervico-medullary syndrome.[4] Common symptoms include:[5][6][7] * Occipital headaches * Migraine Headaches [8] * neck, shoulder and jaw pain * difficulty swallowing, or the sensation of being choked * tenderness at base of skull * feeling of 'bobble-head', where the skull may 'fall off' the spine * photophobia * double or blurred vision * tinnitus * tremors * orthostatic intolerance * vertigo or dizziness * palpitations * shortness of breath * nausea * fatigue * Lhermitte's sign * cognitive and memory decline * clumsiness and motor delay * fainting * weakness of the limbs Symptoms are frequently worsened by a Valsalva maneuver or by being upright for long periods of time. Lying supine can bring short-term relief. ## Diagnosis[edit] Craniocervical instability is usually diagnosed through neuro-anatomical measurement using radiography. Upright magnetic resonance imaging is considered the most accurate method, and supine magnetic resonance imaging, CT scan or digital motion X-ray, or Digital X-ray are also used. The measurements to diagnose craniocervical instability are: * Clivo-Axial Angle equal or less than 135 degrees * Grabb-Oakes measurement equal or greater than 9 mm * Harris measurement greater than 12mm[9] * Spinal subluxation Alternatively, craniocervical instability can be diagnosed if a trial of cervical traction, typically using a halo fixation device, results in a significant alleviation of symptoms. ## Treatment[edit] Conservative treatment of craniocervical instability includes physical therapy and the use of a cervical collar to keep the neck stable. Cervical spinal fusion is performed on patients with more severe symptoms. Prolotherapy, including with stem cells, is another treatment option used [10] but there is limited scientific evidence on this approach. ## References[edit] 1. ^ Nishikawa, Misao; h. Milhorat, Thomas; a. Bolognese, Paolo; b. Mcdonnell, Nazli; a. Francomano, Clair (2009). "Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle. Part 1 : Findings in Patients with Hereditary Disorders of Connective Tissue and Ehlers-Danlos Syndrome". Spinal Surgery. 23 (2): 168–175. doi:10.2531/spinalsurg.23.168. 2. ^ Henderson, Fraser C.; Austin, Claudiu; Benzel, Edward; Bolognese, Paolo; Ellenbogen, Richard; Francomano, Clair A.; Ireton, Candace; Klinge, Petra; Koby, Myles; Long, Donlin; Patel, Sunil; Singman, Eric L.; Voermans, Nicol C. (2017). "Neurological and spinal manifestations of the Ehlers-Danlos syndromes". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 195–211. doi:10.1002/ajmg.c.31549. PMID 28220607. 3. ^ Henderson, F. C.; Geddes, J. F.; Crockard, H. A. (1993). "Neuropathology of the brainstem and spinal cord in end stage rheumatoid arthritis: Implications for treatment". Annals of the Rheumatic Diseases. 52 (9): 629–637. doi:10.1136/ard.52.9.629. PMC 1005138. PMID 8239756. 4. ^ Batzdorf U, Henderson F, Rigamonti D 2015. "Consensus statement on Cervico-Medullary Syndrome." In Co-morbidities that complicate the treatment and outcomes of Chiari malformation. Ulrich Batzdorf. 5. ^ Flanagan, Michael F. (2015). "The Role of the Craniocervical Junction in Craniospinal Hydrodynamics and Neurodegenerative Conditions". Neurology Research International. 2015: 1–20. doi:10.1155/2015/794829. PMC 4681798. PMID 26770824. 6. ^ Martin, Vincent T.; Neilson, Derek (2014). "Joint Hypermobility and Headache: The Glue That Binds the Two Together - Part 2". Headache: The Journal of Head and Face Pain. 54 (8): 1403–1411. doi:10.1111/head.12417. PMID 24958300. 7. ^ Rozen, TD; Roth, JM; Denenberg, N. (2006). "Cervical Spine Joint Hypermobility: A Possible Predisposing Factor for New Daily Persistent Headache". Cephalalgia. 26 (10): 1182–1185. doi:10.1111/j.1468-2982.2006.01187.x. PMID 16961783. S2CID 25434393. 8. ^ Smith FW, Dworkin JS (eds): The Craniocervical Syndrome and MRI. Basel, Karger, 2015, pp 9-21 (DOI:10.1159/000365467) 9. ^ Henderson, Fraser C.; Austin, Claudiu; Benzel, Edward; Bolognese, Paolo; Ellenbogen, Richard; Francomano, Clair A.; Ireton, Candace; Klinge, Petra; Koby, Myles; Long, Donlin; Patel, Sunil; Singman, Eric L.; Voermans, Nicol C. (2017). "Neurological and spinal manifestations of the Ehlers-Danlos syndromes". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 195–211. doi:10.1002/ajmg.c.31549. PMID 28220607. 10. ^ Steilen, Danielle; Hauser, Ross; Woldin, Barbara; Sawyer, Sarah (2014). "Chronic Neck Pain: Making the Connection Between Capsular Ligament Laxity and Cervical Instability". The Open Orthopaedics Journal. 8: 326–345. doi:10.2174/1874325001408010326. PMC 4200875. PMID 25328557. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Craniocervical instability	c3552845	26,167	wikipedia	https://en.wikipedia.org/wiki/Craniocervical_instability	2021-01-18T19:07:02	{"umls": ["C3552845"], "wikidata": ["Q85754469"]}
A tibial plateau fracture A crus fracture is a fracture of the lower legs bones meaning either or both of the tibia and fibula. A distal tibia fracture ## Contents * 1 Tibia fractures * 2 Fibular fracture * 3 Combined tibia and fibula fracture * 4 References ## Tibia fractures[edit] * Pilon fracture * Tibial plateau fracture * Tibia shaft fracture * Bumper fracture \- a fracture of the lateral tibial plateau caused by a forced valgus applied to the knee * Segond fracture \- an avulsion fracture of the lateral tibial condyle * Gosselin fracture \- a fractures of the tibial plafond into anterior and posterior fragments[1] * Toddler's fracture \- an undisplaced and spiral fracture of the distal third to distal half of the tibia[2] ## Fibular fracture[edit] * Maisonneuve fracture \- a spiral fracture of the proximal third of the fibula associated with a tear of the distal tibiofibular syndesmosis and the interosseous membrane. * Le Fort fracture of ankle \- a vertical fracture of the antero-medial part of the distal fibula with avulsion of the anterior tibiofibular ligament.[3] * Bosworth fracture \- a fracture with an associated fixed posterior dislocation of the proximal fibular fragment which becomes trapped behind the posterior tibial tubercle. The injury is caused by severe external rotation of the ankle.[4] * Volkmann's fracture, a fracture of the postero-lateral rim of the distal fibula.[5] ## Combined tibia and fibula fracture[edit] * Trimalleolar fracture \- involving the lateral malleolus, medial malleolus and the distal posterior aspect of the tibia * Bimalleolar fracture \- involving the lateral malleolus and the medial malleolus. * Pott's fracture \- is an archaic term loosely applied to a variety of bimalleolar ankle fractures.[6] ## References[edit] 1. ^ Hunter, Tim B; Leonard F Peltier; Pamela J Lund (May 2000). "Musculoskeletal Eponyms: Who Are Those Guys?". RadioGraphics. 20 (3): 819–836. doi:10.1148/radiographics.20.3.g00ma20819. PMID 10835130. 2. ^ Mellick LB, Milker L, Egsieker E (October 1999). "Childhood accidental spiral tibial (CAST) fractures". Pediatr Emerg Care. 15 (5): 307–9. doi:10.1097/00006565-199910000-00001. PMID 10532655. 3. ^ Tim B Hunter; Leonard F Peltier; Pamela J Lund (2000). "Musculoskeletal Eponyms: Who Are Those Guys?". RadioGraphics. 20: 829. doi:10.1148/radiographics.20.3.g00ma20819. PMID 10835130. 4. ^ Perry, CR; Rice S; Rao A; Burdge R. (Oct 1983). "Posterior fracture-dislocation of the distal part of the fibula. Mechanism and staging of injury". J Bone Joint Surg Am. 65 (8): 1149–57. doi:10.2106/00004623-198365080-00016. PMID 6630259. Archived from the original on 2010-11-01. Retrieved 2009-10-10. 5. ^ Müller ME, Allgöwer M, Schneider R, Willenegger H (1991). Manual of INTERNAL FIXATION: Techniques Recommended by the Ao-Asif Group. Springer Science & Business Media. pp. 148–. ISBN 978-3-540-52523-3. 6. ^ Hunter, T., Peltier, L.F. Lund, P. J. (2000). Radiographics. 20:819-736. * v * t * e Fractures and cartilage damage General * Avulsion fracture * Chalkstick fracture * Greenstick fracture * Open fracture * Pathologic fracture * Spiral fracture Head * Basilar skull fracture * Blowout fracture * Mandibular fracture * Nasal fracture * Le Fort fracture of skull * Zygomaticomaxillary complex fracture * Zygoma fracture Spinal fracture * Cervical fracture * Jefferson fracture * Hangman's fracture * Flexion teardrop fracture * Clay-shoveler fracture * Burst fracture * Compression fracture * Chance fracture * Holdsworth fracture Ribs * Rib fracture * Sternal fracture Shoulder fracture * Clavicle * Scapular Arm fracture Humerus fracture: * Proximal * Supracondylar * Holstein–Lewis fracture Forearm fracture: * Ulna fracture * Monteggia fracture * Hume fracture * Radius fracture/Distal radius * Galeazzi * Colles' * Smith's * Barton's * Essex-Lopresti fracture Hand fracture * Scaphoid * Rolando * Bennett's * Boxer's * Busch's Pelvic fracture * Duverney fracture * Pipkin fracture Leg Tibia fracture: * Bumper fracture * Segond fracture * Gosselin fracture * Toddler's fracture * Pilon fracture * Plafond fracture * Tillaux fracture Fibular fracture: * Maisonneuve fracture * Le Fort fracture of ankle * Bosworth fracture Combined tibia and fibula fracture: * Trimalleolar fracture * Bimalleolar fracture * Pott's fracture Crus fracture: * Patella fracture Femoral fracture: * Hip fracture Foot fracture * Lisfranc * Jones * March * Calcaneal [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Crus fracture	c0040185	26,168	wikipedia	https://en.wikipedia.org/wiki/Crus_fracture	2021-01-18T18:30:41	{"mesh": ["D013978"], "icd-10": ["S82.2"], "wikidata": ["Q3080298"]}
Psychological disorder For the genus of moth, see Dysthymia (moth). Dysthymia Other namesPersistent depressive disorder, dysthymic disorder, chronic depression[1] The Old Guitarist by Pablo Picasso, depicting a state of sadness and incompletion, common in people with dysthymia Pronunciation * /dɪsˈθaɪmiə/ dis-THY-mee-ə SpecialtyPsychiatry, clinical psychology SymptomsLow mood, low self-esteem, loss of interest in normally enjoyable activities, low energy, pain without a clear cause[2] ComplicationsSelf harm, suicide Usual onsetNormally early adulthood CausesGenetic, environmental, and psychological factors[2] Risk factorsFamily history, major life changes, certain medications, chronic health problems, substance abuse[2][3] TreatmentCounseling, antidepressant medication, electroconvulsive therapy[2] Frequency104 million (2015)[4] Dysthymia, also known as persistent depressive disorder (PDD), is a mood disorder consisting of the same cognitive and physical problems as depression, but with longer-lasting symptoms.[3][5][6] The concept was coined by Robert Spitzer as a replacement for the term "depressive personality" in the late 1970s.[7] In the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), dysthymia is a serious state of chronic depression, which persists for at least two years (one year for children and adolescents). Dysthymia is less acute than major depressive disorder, but not necessarily less severe.[8] As dysthymia is a chronic disorder, sufferers may experience symptoms for many years before it is diagnosed, if diagnosis occurs at all. As a result, they may believe that depression is a part of their character, so they may not even discuss their symptoms with doctors, family members or friends. In the DSM-5, dysthymia is replaced by persistent depressive disorder.[3] This new condition includes both chronic major depressive disorder and the previous dysthymic disorder. The reason for this change is that there was no evidence for meaningful differences between these two conditions.[9] ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Co-occurring conditions * 2.1.1 Double depression * 3 Pathophysiology * 4 Diagnosis * 5 Prevention * 6 Treatments * 6.1 Therapy * 6.2 Medications * 6.3 Combination treatment * 6.4 Resistance * 7 Epidemiology * 8 See also * 9 References * 10 External links ## Signs and symptoms[edit] Dysthymia characteristics include an extended period of depressed mood combined with at least two other symptoms which may include insomnia or hypersomnia, fatigue or low energy, eating changes (more or less), low self-esteem, or feelings of hopelessness. Poor concentration or difficulty making decisions are treated as another possible symptom. Mild degrees of dysthymia may result in people withdrawing from stress and avoiding opportunities for failure. In more severe cases of dysthymia, people may withdraw from daily activities.[10] They will usually find little pleasure in usual activities and pastimes. Diagnosis of dysthymia can be difficult because of the subtle nature of the symptoms and patients can often hide them in social situations, making it challenging for others to detect symptoms. Additionally, dysthymia often occurs at the same time as other psychological disorders, which adds a level of complexity in determining the presence of dysthymia, particularly because there is often an overlap in the symptoms of disorders.[11] There is a high incidence of comorbid illness in those with dysthymia. Suicidal behavior is also a particular problem with persons with dysthymia. It is vital to look for signs of major depression, panic disorder, generalised anxiety disorder, alcohol and substance misuse and personality disorder.[12] ## Causes[edit] There are no known biological causes that apply consistently to all cases of dysthymia, which suggests diverse origin of the disorder.[11] However, there are some indications that there is a genetic predisposition to dysthymia: "The rate of depression in the families of people with dysthymia is as high as fifty percent for the early-onset form of the disorder".[8] Other factors linked with dysthymia include stress, social isolation, and lack of social support.[11] In a study using identical and fraternal twins, results indicated that there is a stronger likelihood of identical twins both having depression than fraternal twins. This provides support for the idea that dysthymia is in part caused by heredity. ### Co-occurring conditions[edit] Dysthymia often co-occurs with other mental disorders. A "double depression" is the occurrence of episodes of major depression in addition to dysthymia. Switching between periods of dysthymic moods and periods of hypomanic moods is indicative of cyclothymia, which is a mild variant of bipolar disorder. "At least three-quarters of patients with dysthymia also have a chronic physical illness or another psychiatric disorder such as one of the anxiety disorders, cyclothymia, drug addiction, or alcoholism".[8] Common co-occurring conditions include major depression (up to 75%), anxiety disorders (up to 50%), personality disorders (up to 40%), somatoform disorders (up to 45%) and substance abuse (up to 50%).[11] People with dysthymia have a higher-than-average chance of developing major depression.[13] A 10-year follow-up study found that 95% of dysthymia patients had an episode of major depression.[14] When an intense episode of depression occurs on top of dysthymia, the state is called "double depression."[13] #### Double depression[edit] Main article: Double depression Double depression occurs when a person experiences a major depressive episode on top of the already-existing condition of dysthymia. It is difficult to treat, as sufferers accept these major depressive symptoms as a natural part of their personality or as a part of their life that is outside of their control. The fact that people with dysthymia may accept these worsening symptoms as inevitable can delay treatment. When and if such people seek out treatment, the treatment may not be very effective if only the symptoms of the major depression are addressed, but not the dysthymic symptoms.[15] Patients with double depression tend to report significantly higher levels of hopelessness than is normal. This can be a useful symptom for mental health services providers to focus on when working with patients to treat the condition.[13] Additionally, cognitive therapies can be effective for working with people with double depression in order to help change negative thinking patterns and give individuals a new way of seeing themselves and their environment.[15] It has been suggested that the best way to prevent double depression is by treating the dysthymia. A combination of antidepressants and cognitive therapies can be helpful in preventing major depressive symptoms from occurring. Additionally, exercise and good sleep hygiene (e.g., improving sleep patterns) are thought to have an additive effect on treating dysthymic symptoms and preventing them from worsening.[15] ## Pathophysiology[edit] There is evidence that there may be neurological indicators of early onset dysthymia. There are several brain structures (corpus callosum and frontal lobe) that are different in women with dysthymia than in those without dysthymia. This may indicate that there is a developmental difference between these two groups.[16] Another study, which used fMRI techniques to assess the differences between individuals with dysthymia and other people, found additional support for neurological indicators of the disorder. This study found several areas of the brain that function differently. The amygdala (associated with processing negative emotions such as fear) was more activated in dysthymia patients. The study also observed increased activity in the insula (which is associated with sad emotions). Finally, there was increased activity in the cingulate gyrus (which serves as the bridge between attention and emotion).[17] A study comparing healthy individuals to people with dysthymia indicates there are other biological indicators of the disorder. An anticipated result appeared as healthy individuals expected fewer negative adjectives to apply to them, whereas people with dysthymia expected fewer positive adjectives to apply to them in the future. Biologically these groups are also differentiated in that healthy individuals showed greater neurological anticipation for all types of events (positive, neutral, or negative) than those with dysthymia. This provides neurological evidence of the dulling of emotion that individuals with dysthymia have learned to use to protect themselves from overly strong negative feelings, compared to healthy people.[18] There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and fraternal twins indicated that there is a stronger likelihood of identical twins both having depression than fraternal twins. This provides support for the idea that dysthymia is caused in part by heredity.[19] A new model has recently surfaced in the literature regarding the HPA axis (structures in the brain that get activated in response to stress)[20] and its involvement with dysthymia (e.g. phenotypic variations of corticotropin releasing hormone (CRH) and arginine vasopressin (AVP), and down-regulation of adrenal functioning) as well as forebrain serotonergic mechanisms.[21] Since this model is highly provisional, further research is still needed. ## Diagnosis[edit] The Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV), published by the American Psychiatric Association, characterizes dysthymic disorder.[22] The essential symptom involves the individual feeling depressed for the majority of days, and parts of the day, for at least two years. Low energy, disturbances in sleep or in appetite, and low self-esteem typically contribute to the clinical picture as well. Sufferers have often experienced dysthymia for many years before it is diagnosed. People around them often describe the sufferer in words similar to "just a moody person". Note the following diagnostic criteria:[23][24] 1. During a majority of days for two years or more, the adult patient reports depressed mood, or appears depressed to others for most of the day. 2. When depressed, the patient has two or more of: 1. decreased or increased appetite 2. decreased or increased sleep (insomnia or hypersomnia) 3. Fatigue or low energy 4. Reduced self-esteem 5. Decreased concentration or problems making decisions 6. Feelings of hopelessness or pessimism 3. During this two-year period, the above symptoms are never absent longer than two consecutive months. 4. During the duration of the two-year period, the patient may have had a perpetual major depressive episode. 5. The patient has not had any manic, hypomanic, or mixed episodes. 6. The patient has never fulfilled criteria for cyclothymic disorder. 7. The depression does not exist only as part of a chronic psychosis (such as schizophrenia or delusional disorder). 8. The symptoms are often not directly caused by a medical illness or by substances, including drug abuse or other medications. 9. The symptoms may cause significant problems or distress in social, work, academic, or other major areas of life functioning.[22] In children and adolescents, mood can be irritable, and duration must be at least one year, in contrast to two years needed for diagnosis in adults. Early onset (diagnosis before age 21) is associated with more frequent relapses, psychiatric hospitalizations, and more co-occurring conditions.[11] For younger adults with dysthymia, there is a higher co-occurrence in personality abnormalities and the symptoms are likely chronic.[25][citation needed] However, in older adults suffering from dysthymia, the psychological symptoms are associated with medical conditions and/or stressful life events and losses.[26] Dysthymia can be contrasted with major depressive disorder by assessing the acute nature of the symptoms. Dysthymia is far more chronic (long lasting) than major depressive disorder, in which symptoms may be present for as little as 2 weeks. Also Dysthymia often presents itself at an earlier age than Major Depressive Disorder.[27] ## Prevention[edit] Though there is no clear-cut way to prevent dysthymia from occurring, some suggestions have been made. Since dysthymia will often first occur in childhood, it is important to identify children who may be at risk. It may be beneficial to work with children in helping to control their stress, increase resilience, boost self-esteem, and provide strong networks of social support. These tactics may be helpful in warding off or delaying dysthymic symptoms.[28] ## Treatments[edit] Main article: Management of depression Persistent depressive disorder can be treated with psychotherapy and pharmacotherapy. The overall rate and degree of treatment success is somewhat lower than for non-chronic depression, and a combination of psychotherapy and pharmacotherapy shows best results.[29] ### Therapy[edit] Psychotherapy can be effective in treating dysthymia. There are many different types of therapy, and some are more effective than others. * The empirically most studied type of treatment is cognitive-behavioral therapy. This type of therapy is very effective for non-chronic depression, and it appears to be also effective for chronic depression.[29][30] * Cognitive behavioral analysis system of psychotherapy (CBASP) has been designed specifically to treat PDD. Empirical results on this form of therapy are inconclusive:[29] While one study showed remarkably high treatment success rates,[31] a later, even larger study showed no significant benefit of adding CBASP to treatment with antidepressants.[32] * Schema therapy and psychodynamic psychotherapy have been used for PDD, though good empirical results are lacking.[33][34] * Interpersonal psychotherapy has also been said to be effective in treating the disorder,[35] though it only shows marginal benefit when added to treatment with antidepressants.[29][36] ### Medications[edit] According to a 2014 meta-analysis, antidepressants are at least as effective for persistent depressive disorder as for major depressive disorder.[29] The first line of pharmacotherapy is usually SSRIs due to their purported more tolerable nature and reduced side effects compared to the irreversible monoamine oxidase inhibitors or tricyclic antidepressants.[citation needed] Studies have found that the mean response to antidepressant medications for people with dysthymia is 55%, compared with a 31% response rate to a placebo.[35] The most commonly prescribed antidepressants/SSRIs for dysthymia are escitalopram, citalopram, sertraline, fluoxetine, paroxetine, and fluvoxamine. It often takes an average of 6–8 weeks before the patient begins to feel these medications' therapeutic effects.[citation needed] Additionally, STARD, a multi-clinic governmental study, found that people with overall depression will generally need to try different brands of medication before finding one that works specifically for them.[citation needed] Research shows that 1 in 4 of those who switch medications get better results regardless of whether the second medication is an SSRI or some other type of antidepressant.[citation needed] In a meta-analytic study from 2005, it was found that SSRIs and TCAs are equally effective in treating dysthymia. They also found that MAOIs have a slight advantage over the use of other medication in treating this disorder.[37] However, the author of this study cautions that MAOIs should not necessarily be the first line of defense in the treatment of dysthymia, as they are often less tolerable than their counterparts, such as SSRIs.[37] Tentative evidence supports the use of amisulpride to treat dysthymia but with increased side effects.[38] ### Combination treatment[edit] A combination of antidepressant medication and psychotherapy has consistently been shown to be the most effective line of treatment for people diagnosed with dysthymia.[citation needed] Working with a psychotherapist to address the causes and effects of the disorder, in addition to taking antidepressants to help eliminate the symptoms, can be extremely beneficial. This combination is often the preferred method of treatment for those who have dysthymia. Looking at various studies involving treatment for dysthymia, 75% of people responded positively to a combination of cognitive behavioral therapy (CBT) and pharmacotherapy, whereas only 48% of people responded positively to just CBT or medication alone.[citation needed] In a meta-analytic study from 2010, psychotherapy had a small but significant effect when compared to control groups. Psychotherapy was significantly less effective than pharmacotherapy in direct comparisons. However, the benefit of pharmacotherapy was limited to selective serotonin reuptake inhibitors (SSRIs) rather than tricyclic antidepressants (TCA). When pharmacotherapy alone was compared with combined treatment with pharmacotherapy plus psychotherapy, there was a strong trend in favour of combined treatment.[39] A 2019 Cochrane review of 10 studies involving 840 participants could not conclude with certainty that continued pharmacotherapy with antidepressants (those used in the studies) was effective in preventing relapse or recurrence of persistent depressive disorder. The body of evidence was too small for any greater certainty although the study acknowledges that continued psychotherapy may be beneficial when compared to no treatment.[40] ### Resistance[edit] Because of dysthymia's chronic nature, treatment resistance is somewhat common.[29][35] In such a case, augmentation is often recommended. Such treatment augmentations can include lithium pharmacology, thyroid hormone augmentation, amisulpride, buspirone, bupropion, stimulants, and mirtazapine. Additionally, if the person also suffers from seasonal affective disorder, light therapy can be useful in helping augment therapeutic effects.[35] ## Epidemiology[edit] Globally dysthymia occurs in about 105 million people a year (1.5% of the population).[41] It is 38% more common in women (1.8% of women) than in men (1.3% of men).[41] The lifetime prevalence rate of dysthymia in community settings appears to range from 3 to 6% in the United States. However, in primary care settings the rate is higher ranging from 5 to 15 percent. United States prevalence rates tend to be somewhat higher than rates in other countries.[11] ## See also[edit] Anhedonia, a symptom of dysthymia characterized by a decreased or absent ability to enjoy a sense of pleasure * Atypical depression * Blunted affect, a symptom of PTSD, schizophrenia, and ASPD involving decreased or absent emotional response * Cyclothymia * Double depression * Dysphoria, a state of feeling unwell or unhappy * Epigenetics of depression * List of medications used to treat major depressive disorder or dysthymia ## References[edit] 1. ^ "Persistent depressive disorder: MedlinePlus Medical Encyclopedia". NLM. Retrieved 8 May 2017. 2. ^ a b c d "Depression". NIMH. May 2016. Archived from the original on 5 August 2016. Retrieved 31 July 2016. 3. ^ a b c American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorder, Fifth Edition. Washington, DC: American Psychiatric Publishing. ISBN 978-0-89042-554-1. 4. ^ GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. 5. ^ Gilbert, Daniel T.; Schacter, Daniel L.; Wegner, Daniel M., eds. (2011). Psychology (2nd ed.). New York: Worth Publishers. pp. 564. ISBN 978-1-4292-3719-2. 6. ^ "Dysthymic Disorder". BehaveNet. Retrieved 2013-06-23. 7. ^ Brody, Jane (30 January 1995). "Help awaits those who live with sadness". The News-Journal. Daytona Beach, Florida. p. 54. 8. ^ a b c "Dysthymia". Harvard Health Publications. Harvard University. February 2005. Archived from the original (February 2005 issue of the Harvard Mental Health Letter) on 6 January 2010. Retrieved 12 December 2009. 9. ^ John M. Grohol, Psy.D. (18 May 2013). "DSM-5 Changes: Depression & Depressive Disorders". Psych Central. Retrieved 2 December 2013. 10. ^ Niculescu, A.B.; Akiskal, H.S. (2001). "Proposed Endophenotypes of Dysthymia: Evolutionary, Clinical, and Pharmacogenomic Considerations". Molecular Psychiatry. 6 (4): 363–366. doi:10.1038/sj.mp.4000906. PMID 11443518. 11. ^ a b c d e f Sansone, R. A. MD; Sansone, L. A. MD (2009). "Dysthymic Disorder: Forlorn and Overlooked?". Psychiatry. 6 (5): 46–50. PMC 2719439. PMID 19724735. 12. ^ Baldwin, Rudge S.; Thomas S. (1995). "Dysthymia: Options in Pharmacotherapy". Practical Therpeutics. 4 (6): 422 to 430. doi:10.2165/00023210-199504060-00005. 13. ^ a b c "Double Depression: Hopelessness Key Component Of Mood Disorder". Science Daily. 26 July 2007. Archived from the original on 7 September 2008. Retrieved 17 July 2008. 14. ^ Klein, DN; Shankman, SA; Rose, S (2006). "Ten-year prospective follow-up study of the naturalistic course of dysthymic disorder and double depression". The American Journal of Psychiatry. 163 (5): 872–80. doi:10.1176/appi.ajp.163.5.872. PMID 16648329. 15. ^ a b c Double Depression: Definition, Symptoms, Treatment, and More. Webmd.com (2012-01-07). Retrieved on 2012-07-01. 16. ^ Lyoo, I.K., Kwon, J.S., Lee, S.J., Hann, M.H., Chang, C., Seo, Lee, S.I., and Renshaw, P.F. (2002). "Decrease in Genu of the Corpus Callosum in Medication-Naïve, Early-Onset Dysthymia and Depressive Personality Disorder". Biological Psychiatry. 52 (12): 1134–1143. doi:10.1016/S0006-3223(02)01436-1. PMID 12488058. S2CID 25677987.CS1 maint: multiple names: authors list (link) 17. ^ Ravindran, A. V., Smith, A. Cameron, C., Bhatal, R., Cameron, I., Georgescu, T. M., Hogan, M. J. (2009). "Toward a Functional Neuroanatomy of Dysthymia: A Functional Magnetic Resonance Imaging Study". Journal of Affective Disorders. 119 (1–3): 9–15. doi:10.1016/j.jad.2009.03.009. PMID 19351572.CS1 maint: multiple names: authors list (link) 18. ^ Casement, M. D.; Shestyuk, A. Y.; Best, J. L.; Casas, B. R.; Glezer, A.; Segundo, M. A.; Deldin, P. J. (2008). "Anticipation of Affect in Dysthymia: Behavioral and Neurophysiological Indicators". Biological Psychiatry. 77 (2): 197–204. doi:10.1016/j.biopsycho.2007.10.007. PMC 2709790. PMID 18063468. 19. ^ Edvardsen, J.; Torgersen, S.; Roysamb, E.; Lygren, S.; Skre, I.; Onstad, S.; and Oien, A. (2009). "Unipolar Depressive Disorders have a Common Genotype". Journal of Affective Disorders. 117 (1–2): 30–41. doi:10.1016/j.jad.2008.12.004. PMID 19167093. 20. ^ Schacter, Gilbert, Wegner (2011). Psychology (2nd ed.). Worth. pp. 631.CS1 maint: multiple names: authors list (link) 21. ^ J Griffiths; A V Ravindran; Z Merali; H Anisman (2000). "Dysthymia: a review of pharmacological and behavioral factors". Molecular Psychiatry. 5 (3): 242–261. doi:10.1038/sj.mp.4000697. PMID 10889527. 22. ^ a b American Psychiatric Association, ed. (June 2000). Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR (4th ed.). American Psychiatric Publishing. ISBN 978-0-89042-024-9. Archived from the original on 2008-05-17. 23. ^ Turner, Samuel M.; Hersen, Michel; Beidel, Deborah C., eds. (2007). Adult Psychopathology and Diagnosis (5th ed.). Hoboken, New Jersey: John Wiley. ISBN 978-0-471-74584-6. OCLC 427516745. 24. ^ 300.4, ICD9, Accessed 2009 May 2 25. ^ "Persistent depressive disorder (dysthymia)". Mayo Clinic. December 2018. Retrieved 10 May 2020. 26. ^ Bellino, S.; Patria, L.; Ziero, S.; Rocca, G.; Bogetto, F. (2001). "Clinical Features of Dysthymia and Age: a Clinical Investigation". Psychiatry Review. 103 (2–3): 219–228. doi:10.1016/S0165-1781(01)00274-8. PMID 11549409. S2CID 2502577. 27. ^ Goodman, S. H., Schwab-Stone, M., Lahey, B. B., Shaffer, D. and Jensen, P. S. (2000). "Major Depression and Dysthymia in Children and Adolescents: Discriminant Validity and Differential Consequences in a Community Sample". Journal of the American Academy of Child and Adolescent Psychiatry. 39 (6): 761–771. doi:10.1097/00004583-200006000-00015. PMID 10846311.CS1 maint: multiple names: authors list (link) 28. ^ Dysthymia (dysthymic disorder): Prevention. MayoClinic.com (2010-08-26). Retrieved on 2012-07-01. 29. ^ a b c d e f Uher, R. (2014, July 31). Persistent Depressive Disorder, Dysthymia, and Chronic Depression: Update on Diagnosis, Treatment. Psychiatric Times, 31, 8, 1-3. Retrieved from https://www.psychiatrictimes.com/special-reports/persistent-depressive-disorder-dysthymia-and-chronic-depression-update-diagnosis-treatment 30. ^ Margarita Tartakovsky (2020), https://psychcentral.com/disorders/dysthymic-disorder-symptoms/persistent-depressive-disorder-dysthymia-treatment/. psychcentral.com 31. ^ Keller MB, McCullough JP, Klein DN, et al. A comparison of nefazodone, the cognitive behavioral-analysis system of psychotherapy, and their combination for the treatment of chronic depression (published correction appears in N Engl J Med. 2001;345:232). N Engl J Med. 2000;342:1462-1470. 32. ^ Kocsis JH, Gelenberg AJ, Rothbaum BO, et al. Cognitive behavioral analysis system of psychotherapy and brief supportive psychotherapy for augmentation of antidepressant nonresponse in chronic depression: the REVAMP Trial. Arch Gen Psychiatry. 2009;66:1178-1188. 33. ^ Herts KL, Evans S. Schema Therapy for Chronic Depression Associated with Childhood Trauma: A Case Study. Clinical Case Studies. September 2020. doi:10.1177/1534650120954275 [1] 34. ^ https://www.psychologytoday.com/us/therapy-types/interpersonal-psychotherapy 35. ^ a b c d Dysthymic Disorder~treatment at eMedicine 36. ^ Kriston L, von Wolff A, Westphal A, et al. Efficacy and acceptability of acute treatments for persistent depressive disorder: a network meta-analysis. Depress Anxiety. 2014 Jan 21; [Epub ahead of print]. 37. ^ a b Ballesteros, J (2005). "Orphan comparisons and indirect meta-analysis: A case study on antidepressant efficacy in dysthymia comparing tricyclic antidepressants, selective serotonin reuptake inhibitors, and monoamine oxidase inhibitors by using general linear models". Journal of Clinical Psychopharmacology. 25 (2): 127–31. doi:10.1097/01.jcp.0000155826.05327.c1. PMID 15738743. S2CID 844705. 38. ^ Komossa, K; Depping, AM; Gaudchau, A; Kissling, W; Leucht, S (8 December 2010). "Second-generation antipsychotics for major depressive disorder and dysthymia". The Cochrane Database of Systematic Reviews (12): CD008121. doi:10.1002/14651858.CD008121.pub2. PMID 21154393. 39. ^ Cuijpers, Pim; van Straten, Annemieke; Schuurmans, Josien; van Oppen, Patricia; Hollon, Steven D.; Andersson, Gerhard (2010). "Psychotherapy for chronic major depression and dysthymia: A meta-analysis". Clinical Psychology Review. 30 (1): 51–62. doi:10.1016/j.cpr.2009.09.003. PMID 19781837. 40. ^ Machmutow, Katja; Meister, Ramona; Jansen, Alessa; Kriston, Levente; Watzke, Birgit; Härter, Martin Christian; Liebherz, Sarah (20 May 2019). "Comparative effectiveness of continuation and maintenance treatments for persistent depressive disorder in adults". The Cochrane Database of Systematic Reviews. 5: CD012855. doi:10.1002/14651858.CD012855.pub2. ISSN 1469-493X. PMC 6526465. PMID 31106850. 41. ^ a b Vos, T (Dec 15, 2012). "Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2163–96. doi:10.1016/S0140-6736(12)61729-2. PMC 6350784. PMID 23245607. ## External links[edit] * NIMH Depression Page Classification D * ICD-10: F34.1 * ICD-9-CM: 300.4 * MeSH: D019263 External resources * MedlinePlus: 000918 * v * t * e Mental and behavioral disorders Adult personality and behavior Gender dysphoria * Ego-dystonic sexual orientation * Paraphilia * Fetishism * Voyeurism * Sexual maturation disorder * Sexual relationship disorder Other * Factitious disorder * Munchausen syndrome * Intermittent explosive disorder * Dermatillomania * Kleptomania * Pyromania * Trichotillomania * Personality disorder Childhood and learning Emotional and behavioral * ADHD * Conduct disorder * ODD * Emotional and behavioral disorders * Separation anxiety disorder * Movement disorders * Stereotypic * Social functioning * DAD * RAD * Selective mutism * Speech * Stuttering * Cluttering * Tic disorder * Tourette syndrome Intellectual disability * X-linked intellectual disability * Lujan–Fryns syndrome Psychological development (developmental disabilities) * Pervasive * Specific Mood (affective) * Bipolar * Bipolar I * Bipolar II * Bipolar NOS * Cyclothymia * Depression * Atypical depression * Dysthymia * Major depressive disorder * Melancholic depression * Seasonal affective disorder * Mania Neurological and symptomatic Autism spectrum * Autism * Asperger syndrome * High-functioning autism * PDD-NOS * Savant syndrome Dementia * AIDS dementia complex * Alzheimer's disease * Creutzfeldt–Jakob disease * Frontotemporal dementia * Huntington's disease * Mild cognitive impairment * Parkinson's disease * Pick's disease * Sundowning * Vascular dementia * Wandering Other * Delirium * Organic brain syndrome * Post-concussion syndrome Neurotic, stress-related and somatoform Adjustment * Adjustment disorder with depressed mood Anxiety Phobia * Agoraphobia * Social anxiety * Social phobia * Anthropophobia * Specific social phobia * Specific phobia * Claustrophobia Other * Generalized anxiety disorder * OCD * Panic attack * Panic disorder * Stress * Acute stress reaction * PTSD Dissociative * Depersonalization disorder * Dissociative identity disorder * Fugue state * Psychogenic amnesia Somatic symptom * Body dysmorphic disorder * Conversion disorder * Ganser syndrome * Globus pharyngis * Psychogenic non-epileptic seizures * False pregnancy * Hypochondriasis * Mass psychogenic illness * Nosophobia * Psychogenic pain * Somatization disorder Physiological and physical behavior Eating * Anorexia nervosa * Bulimia nervosa * Rumination syndrome * Other specified feeding or eating disorder Nonorganic sleep * Hypersomnia * Insomnia * Parasomnia * Night terror * Nightmare * REM sleep behavior disorder Postnatal * Postpartum depression * Postpartum psychosis Sexual dysfunction Arousal * Erectile dysfunction * Female sexual arousal disorder Desire * Hypersexuality * Hypoactive sexual desire disorder Orgasm * Anorgasmia * Delayed ejaculation * Premature ejaculation * Sexual anhedonia Pain * Nonorganic dyspareunia * Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related * Drug overdose * Intoxication * Physical dependence * Rebound effect * Stimulant psychosis * Substance dependence * Withdrawal Schizophrenia, schizotypal and delusional Delusional * Delusional disorder * Folie à deux Psychosis and schizophrenia-like * Brief reactive psychosis * Schizoaffective disorder * Schizophreniform disorder Schizophrenia * Childhood schizophrenia * Disorganized (hebephrenic) schizophrenia * Paranoid schizophrenia * Pseudoneurotic schizophrenia * Simple-type schizophrenia Other * Catatonia Symptoms and uncategorized * Impulse control disorder * Klüver–Bucy syndrome * Psychomotor agitation * Stereotypy * v * t * e Mood disorder History * Emil Kraepelin * Karl Leonhard * John Cade * Mogens Schou * Frederick K. 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[Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Dysthymia	c0013415	26,169	wikipedia	https://en.wikipedia.org/wiki/Dysthymia	2021-01-18T18:34:11	{"mesh": ["D019263"], "umls": ["C0013415"], "icd-10": ["F34.1"], "wikidata": ["Q427810"]}
A number sign (#) is used with this entry because this form of adult-onset dystonia-parkinsonism, also known as Parkinson disease-14 (PARK14), is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene (603604) on chromosome 22q13. Mutations in the PLA2G6 gene can also cause early-onset forms of neurodegeneration with brain iron accumulation (NBIA): see NBIA2A (256600) and NBIA2B (610217). Clinical Features Paisan-Ruiz et al. (2009) reported 2 unrelated consanguineous families in which a total of 3 individuals had young-adult onset of a rapidly progressive neurodegenerative disorder characterized by parkinsonism, dystonia, and severe cognitive decline. In the first family, a 34-year-old Indian woman developed rapid cognitive decline, slow movements, imbalance, hand tremor and dysarthria over 6 months. By age 27, she could not walk without assistance. Other features included depression, facial hypomimia, eyelid opening apraxia, supranuclear vertical gaze palsy, and hypometric vertical saccades. Kayser-Fleischer rings and pigmentary retinopathy were absent. She had generalized rigidity and dystonia in all limbs, as well as bradykinesia. Serum creatine kinase was increased. A cousin had a similar disorder, but had noted leg dragging and dystonia since age 10 years. L-DOPA treatment was beneficial in both, but caused prominent dyskinesias. Brain MRI showed generalized cerebral atrophy, but no evidence of brain iron accumulation. The second proband was a 21-year-old Pakistani man who developed dragging of the foot, cognitive decline, and personality changes with aggression at age 18. The disorder was rapidly progressive, and he had pyramidal and extrapyramidal features, including spasticity, hyperreflexia, bradykinesia, and rigidity. Brain MRI again excluded brain iron accumulation, and PET scan showed decreased dopamine transporter activity in the striatum. Paisan-Ruiz et al. (2009) noted some phenotypic overlap with Kufor-Rakeb syndrome (PARK9; 606693) and PKAN (NBIA1; 234200). Although Paisan-Ruiz et al. (2009) noted that brain MRI in these patients showed no evidence of brain iron accumulation, Gregory et al. (2009) stated that this disorder could be considered under the umbrella designation of atypical neurodegeneration with brain iron accumulation (NBIA). Yoshino et al. (2010) reported 3 Japanese patients, including 2 sibs, with very early-onset Parkinson disease. All 3 patients had onset before age 30 years of L-DOPA-responsive parkinsonism with varying degrees of dementia and frontotemporal lobar atrophy. Brain MRI of 1 patient showed iron accumulation in the substantia nigra and striatum. Shi et al. (2011) reported a Chinese man, born of consanguineous parents, with PARK14. He developed foot dragging and difficulty walking at age 37 years. Symptoms progressed to include masked facies, bradykinesia, and rigidity, but no atypical features. He had initial good response to L-DOPA treatment, but developed dyskinesias. Brain MRI excluded iron deposition. PET scan showed significant reduction in DAT binding in the basal ganglia. The patient's clinically unaffected 34-year-old sister was also homozygous for the mutation, and PET scan showed some loss of binding. Molecular Genetics By homozygosity mapping, followed by candidate gene sequencing, of 2 unrelated families with adult-onset dystonia-parkinsonism, Paisan-Ruiz et al. (2009) identified 2 different homozygous mutations in the PLA2G6 gene (R741Q; 603604.0009 and R747W; 603604.0010, respectively). Affected members of 3 additional families with a similar phenotype did not have PLA2G6 mutations. In 3 Japanese patients, including 2 sibs, with onset of PARK14 before age 30 years, Yoshino et al. (2010) identified compound heterozygous mutations in the PLA2G6 gene (603604.0011-603604.0013). Haplotype analysis suggested a founder effect for 1 of the mutations (R635Q; 603604.0011). None of the parents with heterozygous mutations had signs of the disorder. The 2 probands represented 6.9% of 29 patients with very early-onset parkinsonism and cognitive decline in the overall study. In a Chinese patient, born of consanguineous parents, with early-onset Parkinson disease, Shi et al. (2011) identified a homozygous mutation in the PLA2G6 gene (D331Y; 603604.0016). Heterozygous mutation carriers in the family were unaffected. The patient was identified in a cohort of 12 Chinese families with early-onset parkinsonism who were screened for PLA2G6 mutations; none of the other 11 families carried a PLA2G6 mutation. INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial hypomimia Eyes \- Supranuclear gaze palsy \- Eyelid opening apraxia \- Hypometric vertical saccades NEUROLOGIC Central Nervous System \- Cognitive decline \- Parkinsonism \- Extrapyramidal signs \- Bradykinesia \- Clumsiness \- Tremor \- Dysarthria \- Rigidity \- Dystonia \- Postural instability \- Stiff gait \- Spasticity \- Hyperreflexia \- Frontotemporal lobar atrophy \- Frontotemporal dementia, variable severity \- Generalized cerebral atrophy \- Brain iron accumulation (in some patients) Behavioral Psychiatric Manifestations \- Personality changes \- Aggression \- Depression LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Onset in young adulthood \- Foot dragging may appear in childhood \- Rapidly progressive \- Favorable initial response to L-dopa \- L-dopa-induced dyskinesias MOLECULAR BASIS \- Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0009 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	c2751842	26,170	omim	https://www.omim.org/entry/612953	2019-09-22T16:00:12	{"doid": ["0060900"], "mesh": ["C567844"], "omim": ["612953"], "orphanet": ["199351"], "synonyms": ["Alternative titles", "DYSTONIA-PARKINSONISM, ADULT-ONSET"]}
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved. It is most often found in the uterus or abdomen. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Leiomyosarcoma	c0023269	26,171	gard	https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma	2021-01-18T17:59:28	{"mesh": ["D007890"], "umls": ["C0023269"], "orphanet": ["64720"], "synonyms": []}
A number sign (#) is used with this entry because all forms of the disorder are caused by mutation in the SCN4A gene (603967). Allelic disorders with overlapping clinical phenotypes include hyperkalemic periodic paralysis (HYPP; 170500) and paramyotonia congenita (PMC; 168300). Myotonia congenita (160800) is a distinct disorder caused by mutation in a skeletal muscle chloride channel gene (CLCN1; 118425). Description In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia. Clinical Features Trudell et al. (1987) reported 14 patients from a kindred with an autosomal dominant form of myotonia characterized by painful muscle stiffness that was provoked by fasting and oral potassium administration. Acetazolamide treatment was effective. Lerche et al. (1993) reported 4 patients from 3 families with a form of myotonia distinct from HYPP and PMC. The first patient had severe permanent myotonia with occasional stiffness of the respiratory muscles and resultant hypoxia. A mother and son of a second family had exercise-induced myotonia, and a third unrelated patient had fluctuant myotonia. All had a nondystrophic generalized myotonia that was not associated with muscle weakness or cold, but was aggravated by oral potassium intake. Lerche et al. (1993) postulated that the underlying phenotype was the same in these patients, despite some clinical variability. Ricker et al. (1994) defined 'myotonia fluctuans' as a disorder of the muscle sodium channel. Three families, with 17 affected members, showed myotonia caused by prolongation of relaxation times that developed 20 to 40 minutes after exercise. Potassium loading also caused myotonia, and cooling had no major effect on muscle function. Ricker et al. (1994) stated that myotonia fluctuans belongs to a third type of sodium channel disorder distinct from HYPP and PMC. Orrell et al. (1998) reported a family with autosomal dominant inheritance of potassium-aggravated myotonia. The proband had experienced cramps in the toes, fingers, and eyelids, especially when tired or cold, throughout her life, and physical examination showed mild myotonia. There was no muscle weakness. Her mother and several other family members had a similar phenotype. An unusual feature was the occurrence of painful cramps. Orrell et al. (1998) noted that there was variability of symptoms from day to day, which is similar to myotonia fluctuans. A mild reduction in amplitude of compound muscle action potential on cooling and administration of potassium was demonstrated. Ptacek et al. (1994) reported acetazolamide-responsive myotonia congenita in which myotonia was worsened by potassium, but episodic weakness did not occur. Colding-Jorgensen et al. (2006) reported a family with autosomal dominant myotonia permanens spanning 5 generations. The proband and his affected son were examined in detail, but there were 10 additional family members who were reportedly affected. The proband was a 48-year-old man who had severe and painful myotonic stiffness since early childhood that was aggravated after physical exertion, cold weather, fever, or ingestion of potassium-rich foods. He has never experienced serious respiratory problems due to myotonia and had had employment requiring physical exertion. Examination showed pronounced myotonia in all muscles on exertion or percussion. Serum creatine kinase was increased, and electromyography (EMG) showed continuous myotonic activity. His 9-year-old son had similar symptoms since birth and participates in sports. Dupre et al. (2009) reported French Canadian patients with a severe painful generalized myotonia with muscle hypertrophy associated with a mutation in the SCN4A gene (V445M; 603967.0014). Myotonia was significantly alleviated by ethanol or mexiletine in 1 of these patients. ### Severe Neonatal Episodic Laryngospasm Lion-Francois et al. (2010) reported 3 unrelated neonates with sodium channel myotonias who each experienced recurrent life-threatening episodic apnea due to laryngospasm. The attacks were associated with stridor and generalized stiffness, followed by hypotonia, cyanosis, and bradycardia. There were no apparent triggering factors, and examinations between episodes were normal in 2, although all showed feeding difficulties. EMG in all 3 children showed continuous myotonic discharges. One child died of respiratory arrest at age 2.5 months. Both surviving children showed marked muscle hypertrophy at age 6 months, with handgrip, palpebral, and tongue myotonia in one and exacerbation of myotonia with cold in the other. Carbamazapine or mexiletine were effective treatments. Lion-Francois et al. (2010) noted the severe neonatal phenotype observed in these patients, and emphasized that early recognition is imperative for proper treatment. Diagnosis Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (118425), Fournier et al. (2006) found that cold temperature was able to exaggerate electromyographic findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon. Mapping In a family with acetazolamide-responsive atypical myotonia congenita, Ptacek et al. (1992) found linkage to SCN4A; maximum lod score = 3.56 to 4.19 at theta = 0.0, depending on assumed penetrance varying from 0.7 to 1.0. Molecular Genetics Lerche et al. (1993) identified a heterozygous mutations in the same codon of the SCN4A gene (G1306V; 603967.0007, G1306A; 603967.0012, and G1306E; 603967.0025) in patients with exercise and potassium-aggravated myotonia, myotonia fluctuans, and myotonia permanens, respectively. Patch-clamp recordings on patient muscle samples showed slower sodium fast channel inactivation and an increase in late channel opening, resulting in a steady-state inward current, sustained muscle depolarization, and muscle fiber hyperexcitability. The findings indicated that SCN4A residue 1306 is important for sodium channel inactivation. In a patient with acetazolamide-responsive myotonia congenita that was worsened by potassium, Ptacek et al. (1994) identified a mutation in the SCN4A gene (603967.0010). In patients with myotonia fluctuans, Ricker et al. (1994) identified 2 mutations in the SCN4A gene (603967.0006 and 603967.0012). In a family with potassium-aggravated myotonia, Orrell et al. (1998) identified a mutation in the SCN4A gene (603967.0009). The authors noted that the same mutation had been identified in a family with paramyotonia congenita by Heine et al. (1993). Colding-Jorgensen et al. (2006) identified the identified a heterozygous G1306E mutation in the SCN4A gene in both a father and son from a family with autosomal dominant myotonia permanens spanning 5 generations. In 3 unrelated neonates with severe neonatal episodic laryngospasm, Lion-Francois et al. (2010) identified de novo heterozygous missense mutations in the SCN4A gene, including the G1306E mutation in 2 of the children. Nomenclature Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. INHERITANCE \- Autosomal dominant RESPIRATORY \- Apnea, episodic, neonatal Larynx \- Laryngospasm, neonatal \- Stridor MUSCLE, SOFT TISSUES \- Myotonia, potassium-sensitive (may be responsive to acetazolamide) \- Muscle weakness usually does not occur \- Muscle pain \- Muscle stiffness \- Muscle hypertrophy \- Cold sensitivity has been reported \- EMG in myotonia permanens shows continuous myotonic activity LABORATORY ABNORMALITIES \- Serum creatine kinase may be increased MISCELLANEOUS \- Highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') \- Allelic disorder to paramyotonia congenita ( 168300 ) \- Allelic disorder to hyperkalemic periodic paralysis (HYPP, 608390 ) \- Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400 ) MOLECULAR BASIS \- Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, 603967.0009 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	MYOTONIA, POTASSIUM-AGGRAVATED	c0752355	26,172	omim	https://www.omim.org/entry/608390	2019-09-22T16:07:54	{"mesh": ["D020967"], "omim": ["608390"], "icd-10": ["G71.19", "G71.12"], "orphanet": ["99734", "99735", "612", "99736"], "synonyms": ["Alternative titles", "MYOTONIA FLUCTUANS", "MYOTONIA PERMANENS", "SODIUM CHANNEL MUSCLE DISEASE", "MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE", "MYOTONIA CONGENITA, ATYPICAL"]}
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources. Find sources: "Endometrial stromal sarcoma" – news · newspapers · books · scholar · JSTOR (May 2010) Endometrial stromal sarcoma Micrograph of a low-grade endometrial stromal sarcoma. H&E stain. SpecialtyOncology, gynecology Endometrial stromal sarcoma is a malignant subtype of endometrial stromal tumor arising from the stroma (connective tissue) of the endometrium rather than the glands. There are three grades for endometrial stromal tumors, as follows.[1] It was previously known as endolymphatic stromal myosis because of diffuse infiltration of myometrial tissue or the invasion of lymphatic channels.[2] ## Contents * 1 Low-grade endometrial stromal sarcoma * 2 Undifferentiated uterine sarcoma * 3 Pathology * 3.1 Macroscopy * 3.2 Microscopy * 3.3 Immunochemistry * 4 Genetic features * 5 References * 6 External links ## Low-grade endometrial stromal sarcoma[edit] Low-grade endometrial stromal sarcoma consists of cells resembling normal proliferative phase endometrium, but with infiltration or vascular invasion. These behave less[3] aggressively, sometimes metastasizing, with cancer stage the best predictor of survival. The cells express estrogen/progesterone-receptors. ## Undifferentiated uterine sarcoma[edit] Endometrial Stromal Sarcoma, High-Grade Undifferentiated uterine sarcoma, or undifferentiated (high-grade) endometrial stromal sarcoma, does not resemble normal endometrial stroma and behaves much more aggressively, frequently metastasizing. The differential includes leukemia, lymphoma, high-grade carcinoma, carcinosarcoma, and differentiated pure sarcomas. ## Pathology[edit] ### Macroscopy[edit] * Polypoid mass extending into broad ligament, ovaries and fallopian tubes. * Lymphatic tumor plugs as yellow, ropy or ball-like masses. ### Microscopy[edit] * Monotonous ovoid cells to spindly cells with minimal cytoplasm. * Prominent arterioles. Angiolymphatic invasion common. * Up to 10-15 mitotic figures per 10 HPF in most active areas. * Tongue-like infiltration between muscle bundles of myometrium. * May exhibit myxoid, epithelioid and fibrous change. * May have foam cells or hyalinization in the stroma. ### Immunochemistry[edit] * CD10+ * muscle markers (muscle specific actin MSA, smooth muscle actin SMA and desmin) positive in areas of smooth muscle differentiation * CD117\- (c-kit -) * h-caldesmon- ## Genetic features[edit] A recurrent chromosomal translocation, t(7;17)(p15;q21), occurs in endometrial stromal sarcoma. This translocation leads to the fusion of two polycomb group genes, JAZF1 and JJAZ1, with production of a fusion transcript with anti-apoptotic properties. Even normal endometrial stroma cells express the fusion gene, derived not by translocation, but by the "stitching" together of m-RNAs. Thus, it appears that a pro-survival gene in the normal endometrium is somehow subverted to become pro-neoplastic.[4] ## References[edit] 1. ^ Sternberg's Diagnostic Surgical Pathology, 5th edition, p. 2242-2245. 2. ^ Kumar V, Abbas A, Fausto N, Aster J (2010). Robbins and Cotran Pathologic Basis of Disease. 8th edition. Philadelphia: Elsevier Saunders 3. ^ https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html 4. ^ Li H, et al. (2009). "Gene fusion and RNA trans-splicing in normal and neoplastic cells". Cell Cycle. 8 (2): 218–222. doi:10.4161/cc.8.2.7358. ## External links[edit] Classification D * MeSH: D018203 * Webpathology * Pathology Outlines [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Endometrial stromal sarcoma	c0206630	26,173	wikipedia	https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma	2021-01-18T18:43:26	{"gard": ["6339"], "mesh": ["D018203"], "umls": ["C0206630"], "icd-10": ["C50"], "orphanet": ["213711"], "wikidata": ["Q5376363"]}
A number sign (#) is used with this entry because Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (604843) and SLCO1B3 (605495) genes, which are located near each other on chromosome 12p. Description The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; 237500) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012). Clinical Features Because of clinical similarities, the Rotor and Dubin-Johnson syndromes were initially considered to be the same entity. However, studies of urinary coproporphyrin excretion (Wolkoff et al., 1976) and sulfobromophthalein excretion (Wolpert et al., 1977) in the 2 disorders indicated that they were separate entities. Unlike Dubin-Johnson syndrome, Rotor syndrome shows no abnormal hepatic pigmentation and oral cholecystography is often normal. Total coproporphyrin excretion in the urine is markedly increased in Rotor syndrome. Dubin-Johnson patients excreted 88.9% as coproporphyrin I, whereas this value was 64.8% in Rotor homozygotes and 42.9% in Rotor heterozygotes. The standard errors of these values were such that the differences were highly significant (Wolkoff et al., 1976). Inheritance Three sibs from a first-cousin marriage were affected in the family reported by Pereira Lima et al. (1966), suggesting recessive inheritance. Dollinger et al. (1967) observed a father and 3 of 5 children with what they considered to be Rotor syndrome; however, occult hemolysis was also present, which is not a feature of Rotor syndrome. Mapping By homozygosity mapping of 8 families with Rotor syndrome, van de Steeg et al. (2012) found linkage to a single region on chromosome 12. Three distinct haplotypes were identified. Molecular Genetics In affected members of 8 families with Rotor type hyperbilirubinemia, van de Steeg et al. (2012) identified 2 different homozygous mutations in 2 different genes: the SLCO1B1 gene (604843.0001-604843.0003) and the SLCO1B3 gene (605495.0001-605495.0003). Three of the families, who were Saudi Arabian, were homozygous for a 405-kb deletion on chromosome 12 encompassing exons 3 to 15 of SLCO1B3 (605495) and the whole of SLCO1B1, as well as homozygous for a splice site mutation in SLCO1B1 (604843.0002). Immunostaining of patient liver biopsies showed absence of detectable staining for both of these proteins. Segregation patterns in the families indicated that the disorder can only be caused by complete and simultaneous deficiencies of these 2 genes, which mediate uptake and clearance of conjugated bilirubin across the hepatic sinusoidal membranes into bile. Screening of 2,300 additional individuals identified 1 without jaundice who was heterozygous for a truncating mutation in SLCO1B1 and also homozygous for a deletion in SLCO1B3; this demonstrated that a single functional SLCO1B1 allele can prevent the disorder. Van de Steeg et al. (2012) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. INHERITANCE \- Digenic recessive ABDOMEN Liver \- Hyperbilirubinemia, conjugated \- Lack of abnormal hepatic pigmentation SKIN, NAILS, & HAIR Skin \- Jaundice LABORATORY ABNORMALITIES \- Delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye \- Increased urinary excretion of coproporphyrin I MISCELLANEOUS \- Onset in infancy or childhood MOLECULAR BASIS \- Caused by simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1B1 gene (SLCO1B1, 604843.0001 ) and the solute carrier organic anion transporter family, member 1B3 gene (SLCO1B3, 605495.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	HYPERBILIRUBINEMIA, ROTOR TYPE	c0220991	26,174	omim	https://www.omim.org/entry/237450	2019-09-22T16:26:53	{"mesh": ["D006933"], "omim": ["237450"], "icd-10": ["E80.6"], "orphanet": ["3111"], "synonyms": ["Alternative titles", "ROTOR SYNDROME"], "genereviews": ["NBK114805"]}
Facet syndrome Other namesFacet joint disease, facet osteoarthritis, facet hypertrophy, facet arthritis Facet joint SpecialtyOrthopedics Facet syndrome is a syndrome in which the facet joints (synovial diarthroses, from L2 to S1) cause painful symptoms.[1] In conjunction with degenerative disc disease, a distinct but functionally related condition, facet arthropathy is believed to be one of the most common causes of lower back pain.[2][3] ## Contents * 1 Signs and symptoms * 2 Cause * 3 Pathophysiology * 3.1 Facet joints * 4 Diagnosis * 5 Treatment * 6 See also * 7 References * 8 External links ## Signs and symptoms[edit] The symptoms of facet joint arthropathy depend entirely on the location of the degenerated spinal joint, the severity of the damage and the amount of pressure that is being placed on the surrounding structures.[4] It's important to note that the amount of pain a person experiences does not correlate well with the amount of degeneration that has occurred within the joint. Many people experience little or no pain while others, with exactly the same amount of pathology, experience chronic pain.[citation needed] Additionally, in symptomatic facet arthropathy the location of the degenerated joint plays a significant role in the symptoms that are experienced. People with degenerated joints in the upper spine will often feel pain radiating throughout the upper neck and shoulders (cervical facet syndrome.) That said, symptoms often manifest themselves in the lumbar spine, since they are highest here due to the overlying body weight, mobility and geometry. Affected persons usually feel dull pain in the lumbar spine that can radiate into the buttocks and legs. Typically, the pain is worsened by stress on the facet joints, e.g. by lumbar extension and loading (the basis of the Kemp Test) or lateral flexion but also by prolonged standing or walking.[citation needed] Pain associated with facet syndrome is often called "referred pain" because symptoms do not follow a specific nerve root pattern. This is why patients experiencing symptomatic facet syndrome can feel pain in their shoulders, legs and even manifested in the form of headaches.[5] ## Cause[edit] Like many other joints throughout the human body, facets can experience natural degeneration from normal aging. Over time, the cartilage within the joints can naturally begin to wear out, allowing it to become thin or disappear entirely which, in turn, allows the conjoining vertebrae to rub directly against one another with little or no lubricant or separation. A result of this rubbing is often swelling, inflammation causing pain.[citation needed] Over time, the body will naturally respond to the instability within the spine by developing bone spurs, thickened ligaments or even synovial cysts that contact nerve roots exiting the spinal column.[6] While primarily caused through natural wear and tear and degeneration, facet syndrome can also occur as a result of injury to the spine, or lifestyle choices. These causes can include:[citation needed] * Osteoarthritis * Spondylolisthesis * Obesity * Smoking * Malnutrition * Trauma such as a car accident, fall or sports injury. * Lack of physical exercise or daily activity (questionably) ## Pathophysiology[edit] 55% of facet syndrome cases occur in cervical vertebrae, and 31% in lumbar. Spinal osteoarthritis is known as spondylosis.[7] Pathology of the C1-C2 (atlantoaxial) joint, the most mobile of all vertebral segments, accounts for 4% of all spondylosis.[8] ### Facet joints[edit] The facet joints are formed by the superior and inferior processes of each vertebra. The first cervical vertebra has an inferior articulating surface but, as it does not restrict lateral or posterior translation, is not always considered a proper zygoma[9][10] (zygoma is Greek for "yoke," i.e. something that restrains movement). In the lumbar spine, facets provide about 20 percent of the twisting stability in the low back. Each facet joint is positioned at each level of the spine to provide the needed support especially with rotation.[citation needed] Facet joints also prevent each vertebra from slipping over the one below. A small capsule surrounds each facet joint providing a nourishing lubricant for the joint. Also, each joint has a rich supply of tiny nerve fibers that provide a painful stimulus when the joint is injured or irritated. Inflamed facets can cause a powerful muscle spasm.[citation needed] ## Diagnosis[edit] Facet arthropathy or 'facet syndrome' can typically be diagnosed through a physical examination, MRI, x-rays and/or a diagnostic block into the suspected joint.[5] Facet syndrome has no specific code in ICD-10. It can be diagnosed as “other” in M53.8 – other specified dorsopathies.[11] ## Treatment[edit] In general, anti-inflammatory drugs are prescribed initially. This medical treatment is usually accompanied by physiotherapy to increase back and stomach muscles. Thus, the spine can be both relieved and stabilized.[12] If these conservative measures do not bring about betterment, minimally invasive procedures such as a facet infiltration can be conducted to offer relief. In this procedure, a local anesthetic is injected directly into the respective joint, usually in combination with a cortisone preparation (corticosteroid). For long- term relief in more severe cases, Radio Frequency Ablation or Rhyzotomy, where the anterior and posterior spinal nerve root is burnt may be performed. [13] ## See also[edit] * Facet joint arthrosis ## References[edit] 1. ^ Emedicine article on Lumbosacral Facet Syndrome 2. ^ Kalichman, Leonid; Li, Ling; Kim, David H.; Guermazi, Ali; Berkin, Valery; OʼDonnell, Christopher J.; Hoffmann, Udo; Cole, Rob; Hunter, David J. (2008). "Facet Joint Osteoarthritis and Low Back Pain in the Community-Based Population". Spine. 33 (23): 2560–2565. doi:10.1097/brs.0b013e318184ef95. PMC 3021980. PMID 18923337. 3. ^ Suri, P.; Hunter, D.J.; Rainville, J.; Guermazi, A.; Katz, J.N. (September 2013). "Presence and extent of severe facet joint osteoarthritis are associated with back pain in older adults". Osteoarthritis and Cartilage. 21 (9): 1199–1206. doi:10.1016/j.joca.2013.05.013. PMC 4018241. PMID 23973131. 4. ^ "Facet Joint Syndrome". www.cedars-sinai.edu. Retrieved 2017-09-20. 5. ^ a b "Facet Joint Syndrome - UCLA Neurosurgery, Los Angeles, CA". neurosurgery.ucla.edu. Retrieved 2017-09-20. 6. ^ "Bone spurs Causes". Mayo Clinic. Retrieved 2017-09-20. 7. ^ ICD-10 www.icd10data.com. 8. ^ James Halla (1987). "Atlantoaxial (C1-C2) facet joint osteoarthritis". Arthritis & Rheumatism. 30 (5): 577–582. doi:10.1002/art.1780300514. PMID 3593439. 9. ^ Frank Netter. "Atlas of Human Anatomy". 10. ^ Van de Graaff (2002). Human Anatomy. New York: McGraw Hill, p. 160. 11. ^ Where is the ICD-10 code for facet syndrome? www.chirocode.com. 12. ^ Facet Syndrome www.joimax.com. 13. ^ A. Gangi, J. L. Dietemann, R. Mortazavi, D. Pfleger, C. Kauff, C. Roy: CT-guided interventional procedures for pain management in the lumbosacral spine. In: Radiographics. 18, 1998, S. 621–633. ## External links[edit] Classification D * ICD-9-CM: 716.88, 721.0,721.3 * v * t * e Spinal disease Deforming Spinal curvature * Kyphosis * Lordosis * Scoliosis Other * Scheuermann's disease * Torticollis Spondylopathy inflammatory * Spondylitis * Ankylosing spondylitis * Sacroiliitis * Discitis * Spondylodiscitis * Pott disease non inflammatory * Spondylosis * Spondylolysis * Spondylolisthesis * Retrolisthesis * Spinal stenosis * Facet syndrome Back pain * Neck pain * Upper back pain * Low back pain * Coccydynia * Sciatica * Radiculopathy Intervertebral disc disorder * Schmorl's nodes * Degenerative disc disease * Spinal disc herniation * Facet joint arthrosis [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Facet syndrome	c0423690	26,175	wikipedia	https://en.wikipedia.org/wiki/Facet_syndrome	2021-01-18T19:05:32	{"icd-9": ["721.3", "716.88", "721.0"], "wikidata": ["Q1095925"]}
Nasal vestibulitis is the diffuse dermatitis of nasal vestibule. [1] It is often caused by Staphylococcus aureus. It may be secondary to chronic rhinorrhea, nose picking or viral infections. [2] In acute vestibulitis, the skin is red, swollen and tender. In chronic vestibulitis, induration of vestibular skin and crusting is seen. Antibiotic steroid ointment is sometimes helpful. Chronic fissures can be cauterized with Silver Nitrate. ## References[edit] 1. ^ "Nasal vestibulitis:Signs and symptoms". Webmed Diagnosis. Archived from the original on 8 March 2013. Retrieved 29 June 2013. 2. ^ Onerci, Metin (2010). "Nasal Vestibulitis and Nasal Furunculosis and Mucormycosis". Diagnosis in Otorhinolaryngology. Ankara, Turkey: Springer Berlin Heidelberg. p. 69–71. doi:10.1007/978-3-642-00499-5_18. ISBN 978-3-642-00498-8. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Nasal vestibulitis	c0339825	26,176	wikipedia	https://en.wikipedia.org/wiki/Nasal_vestibulitis	2021-01-18T18:45:57	{"umls": ["C0339825"], "wikidata": ["Q2146141"]}
Anasarca A child with anasarca brought on by nephrosis associated with malaria SpecialtyInternal medicine Anasarca is a severe and generalized form of edema, with subcutaneous tissue swelling throughout the body.[1] Unlike edema, which almost everyone will experience at some time and can be relatively benign, Anasarca is a pathological process reflecting a severe disease state and can involve the cavities of the body in addition to the tissues. ## Contents * 1 Signs and symptoms * 1.1 physical appearance * 1.2 physical manifestations * 2 Cause * 3 Diagnosis * 3.1 Testing * 4 References * 5 External links ## Signs and symptoms[edit] ### physical appearance[edit] Can include: · periorbital edema "eye puffiness" · perioral edema · upper extremity edema · ascites · lower extremity edema · pre-tibial edema · pedal edema ### physical manifestations[edit] Can include: · impaired vision, difficulty opening eyes · shortness of breath (SOB), dyspnea on exertion (DOE), orthopnea · chest pain · extreme discomfort · debilitation ## Cause[edit] Causes include liver failure,[2] kidney failure,[3] right-sided heart failure, nephrotic syndrome,[4] protein-losing enteropathies,[5] severe protein deficiency,[6] and capillary leak syndrome.[7] Anasarca is often caused by a decreased oncotic pressure. It can also be caused by the administration of exogenous intravenous fluid. In Hb Barts, the high oxygen affinity results in poor oxygen delivery to peripheral tissues, resulting in anasarca. ## Diagnosis[edit] Anasarca is a diagnosis made clinically and differentiated from edema by extent of body involvement and severity. While edema is usually graded on mild/moderate/severe scale and usually affects 1-2 regions of the body, Anasarca affects the whole body and is the most severe form of edema with subcutaneous tissue swelling from head to feet. ### Testing[edit] Recent studies have demonstrated a linkage between low-voltage electrocardiogram (ECG) (LVE) (QRS complexes of <5 mm in the limb and <10 mm in the precordial leads) and Anasarca. ## References[edit] 1. ^ Kumar Vinay. Robbins and Cotran Pathologic Basis of Disease. 8th ed. p.112; Philadelphia: Saunders Elsevier, 2010. ISBN 978-0-8089-2402-9 2. ^ Kattula, Sri Rama Surya Tez; Avula, Akshay; Baradhi, Krishna M. (2020), "Anasarca", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30085555, retrieved 2020-07-02 3. ^ "Anasarca: Causes, Edema, and Treatment". Healthline. 2017-07-11. Retrieved 2020-07-02. 4. ^ "Nephrotic syndrome - Symptoms and causes". Mayo Clinic. Retrieved 2020-07-02. 5. ^ Yasuda, Jessica Lacy; Rufo, Paul A. (2018-02-26). "Protein-Losing Enteropathy in the Setting of Severe Iron Deficiency Anemia". Journal of Investigative Medicine High Impact Case Reports. 6. doi:10.1177/2324709618760078. ISSN 2324-7096. PMC 5833205. PMID 29511696. 6. ^ "Anasarca: Causes, treatment, and definition". medicalnewstoday.com. 2018-02-13. Retrieved 2020-07-02. 7. ^ Mehta, Ankita; Shah, Mansi (2016). "Case Report: Uncontrolled Anasarca: CapillaryLeak Syndrome". The Medicine Forum. The Medicine Forum: Vol. 17 , Article 8. 17. doi:10.29046/TMF.017.1.009. Retrieved 7 July 2020. ## External links[edit] Classification D * ICD-10: R60.1 * ICD-9-CM: 782.3 * MeSH: D004487 * DiseasesDB: 9148 External resources * MedlinePlus: 003103 * v * t * e Symptoms and signs relating to skin and subcutaneous tissue Disturbances of skin sensation * Hypoesthesia * Paresthesia * Formication * Hyperesthesia * Hypoalgesia * Hyperalgesia Circulation * Cyanosis * Pallor * Livedo * Livedo reticularis * Flushing * Petechia * Blanching Edema * Peripheral edema * Anasarca Other * Rash * Desquamation * Induration * Diaphoresis * Mass * Neck mass Skin * Asboe-Hansen sign * Auspitz's sign * Borsari's sign * Braverman's sign * Crowe sign * Dennie–Morgan fold * Darier's sign * Fitzpatrick's sign * Florid cutaneous papillomatosis * Gottron's sign * Hutchinson's sign * Janeway lesion * Kerr's sign * Koebner's phenomenon * Koplik's spots * Leser-Trelat sign * Nikolsky's sign * Pastia's sign * Russell's sign * Wickham striae * Wolf's isotopic response * Munro's microabscess Nails * Aldrich-Mees' lines * Beau's lines * Muehrcke's lines * Terry's nails * v * t * e Disorders of volume state Volume contraction * dehydration * hypovolemia Hypervolemia * Edema * Anasarca * Cerebral edema * Pulmonary edema * Angioedema * Lymphedema Other * Cause of fluid collection * Exudate * Transudate * By site * Hydrothorax * Ascites * Hydrosalpinx * Hyperemia This medical sign article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Anasarca	c0151603	26,177	wikipedia	https://en.wikipedia.org/wiki/Anasarca	2021-01-18T18:46:24	{"mesh": ["D004487"], "icd-9": ["782.3"], "icd-10": ["R60.1"], "wikidata": ["Q486485"]}
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2013) Holmes heart SpecialtyCardiology Holmes heart is a rare congenital heart disease with absence of the inflow tract of the morphologically right ventricle (RV) and hence a single left ventricle (LV). The great vessels are normally related, with the pulmonary artery arising from the small infundibular outlet chamber, and the aorta arising from the single left ventricle.[1][2] The Holmes heart is named after Dr. Andrew F. Holmes, who first described an autopsy specimen of this congenital heart defect in 1824. Dr. Holmes later became the first Dean of the Medical Faculty at McGill University in Canada. ## References[edit] 1. ^ Dobell AR, Van Praagh R. (1996). "The Holmes heart: historic associations and pathologic anatomy". American Heart Journal. 132 (2): 437–45. doi:10.1016/s0002-8703(96)90443-3. PMID 8701908. 2. ^ Vitarelli A, Gabbarini F. (1996). "Holmes heart in the adult: transesophageal echocardiographic findings and long-term natural survival". International Journal of Cardiology. 56 (3): 301–5. doi:10.1016/0167-5273(96)02783-0. PMID 8910076. http://www.ahjonline.com/article/S0002-8703%2896%2990443-3/abstract This cardiovascular system article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Holmes heart	None	26,178	wikipedia	https://en.wikipedia.org/wiki/Holmes_heart	2021-01-18T18:30:29	{"wikidata": ["Q16978460"]}
A number sign (#) is used with this entry because glycogen storage disease type IXa (GSD9A1) and type IXa2 (GSD9A2) are caused by mutation in the PHKA2 gene (300798), which encodes the alpha-2 subunit of hepatic phosphorylase kinase, on chromosome Xp22. Description Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (261750), and GSD9C (613027), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive. GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007). See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870). Clinical Features Glycogen storage disease IXa is one of the mildest of the glycogenoses of man. Clinical symptoms include hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis These clinical and biochemical abnormalities gradually disappear with age, and most adult patients are asymptomatic (Schimke et al., 1973; Willems et al., 1990). Hendrickx et al. (1998) presented clinical, biochemical, and molecular findings in a patient with GSD IXa2 who had been followed for 40 years. Although growth was retarded early in life, he achieved a height of 182 cm at the age of 33 years. Thyroid therapy appeared to be helpful in this patient. Five male relatives also had liver glycogenosis. Genetic analysis identified a mutation in the PHKA2 gene (R186H; 300798.0008) Beauchamp et al. (2007) reported 10 patients from 8 families with GSD IXa confirmed by genetic analysis. Age at diagnosis ranged from 12 months to 7 years. Clinical features were variable, and included hepatomegaly, short stature, liver dysfunction, hypoglycemia, hyperuricemia, hyperlipidemia, fasting ketosis, and mild motor delay. Five of the 8 probands had a demonstrable reduction of PHK activity in erythrocytes, consistent with GSD IXa1. The majority of patients had private mutations. The authors emphasized that molecular analysis results in accurate diagnosis for GSD IX when enzymology is uninformative, and thus allows for proper genetic counseling. Roscher et al. (2014) reported on 21 patients (17 males and 4 females) from 17 unrelated families with GSD IXa, IXb (261750), IXc (613027), or VI (232700), which are caused by phosphorylation deficiencies. The average age was 11.66 years, with a range of 3 to 18 years. Eleven patients (53%) had GSD IXa; 3 (14%) had GSD IXb; 3 (14%) had GSD IXc; and 4 (19%) had GSD VI. The average age of initial presentation was 20 months (range 4-160 months). The GSD IXb patients presented earliest at the age of 5 months (range 4-6 months). Hepatomegaly was present in 95% of patients on physical examination and 100% on liver ultrasound. Four patients presented with failure to thrive, and 2 with short stature. None of the patients had intellectual disability or global developmental delay at most recent evaluation, although some had early developmental delay. Alanine transaminase (ALT) was elevated in 18 patients (86%), and aspartate transaminase (AST) was elevated in 19 (90%). Hypercholesterolemia was present in 14 of the 21 patients, and hypertriglyceridemia was present in 16. While previous reports noted hypoglycemia in 17 to 44% of patients with subtypes of GSD VI or GSD IX, hypoglycemia occurred in less than 5% of the patients in the cohort of Roscher et al. (2014). Two patients had developed likely liver adenomas at long-term follow-up, which had not been theretofore reported. Clinical Management In 4 boys with X-linked PHK-deficient glycogenosis, aged 29 months to 43 months, Garibaldi et al. (1978) found that dextrothyroxine (D-T4) had dramatic effects: the liver, previously greatly enlarged, returned to normal size; serum GOT, GPT, and triglycerides fell to normal; and hypoglycemia was corrected. Inheritance Williams and Field (1961) found low leukocyte phosphorylase activity in 2 affected brothers, and normal activity in an unaffected brother and in the father. An intermediately low level in the mother, together with affected males, suggested X-linked inheritance. Wallis et al. (1966) restudied the family and with new methods found support for X-linkage. Huijing and Fernandez (1969) studied 2 kindreds, 1 of which had 6 affected males and 2 possibly affected males. The other had 20 affected males, 2 affected females, and 7 probably affected males. X-linked inheritance was suggested. Huijing and Fernandez (1970) suggested that affected females studied by Hug et al. (1969) were heterozygotes. By cloning cells of an obligate heterozygous female with GSD due to phosphorylase kinase deficiency, Migeon and Huijing (1974) demonstrated that some fibroblasts had enzymatic levels similar to those of affected hemizygotes. This was presented as proof of X-linkage and X-inactivation of the phosphorylase kinase locus. Mapping Willems et al. (1991) performed linkage analysis with X-chromosomal polymorphic DNA markers in 2 families with X-linked liver glycogenosis. Multipoint linkage analysis indicated that the mutation responsible for X-linked liver glycogenosis was located on Xp22 between DXS143 and DXS41. Linkage to the muscle PHKA1 region on Xq12-q13 was excluded. Hendrickx et al. (1992, 1993) found a combined multipoint lod score of 16.79 for linkage of X-linked liver glycogenosis to chromosome Xp22. Hendrickx et al. (1994) performed linkage analysis in 4 families with GSD IXa2, who had residual PHK activity in erythrocytes, and showed that this form was also linked to Xp22. The authors concluded that this biochemical variant type was allelic to GSD IXa1, and that both diseases are likely caused by mutations in PHKA2. Hendrickx et al. (1994) proposed the classification of XLG into types I and II. Molecular Genetics In affected members of 4 unrelated families with GSD IXa1, Hendrickx et al. (1995) identified 4 different mutations in the PHKA2 gene (300798.0001-300798.0004). Clinical features were somewhat variable, but included growth retardation, hepatomegaly, elevated liver enzymes, and normalization of symptoms with age. PHK activity was decreased to less than 20% of control values in erythrocytes and in liver, when measured. Van den Berg et al. (1995) identified mutations in the PHKA2 gene (300798.0005 and 300798.0006) in affected members of 2 Dutch families with GSD IXa1. One of the families had been reported by Huijing and Fernandez (1969). Burwinkel et al. (1996) identified mutations in the PHKA2 gene in patients with GSD IXa2 (see 306000.0008-306000.0010). The mutations appeared to cluster in limited sequence regions. Burwinkel et al. (1996) stressed that the clustering of type II mutations would further facilitate analysis by RT-PCR of blood cell mRNA and thus help avoid liver biopsy in the diagnosis. Genotype/Phenotype Correlations In 4 unrelated patients with GSD IXa2, Hendrickx et al. (1996) identified 4 different mutations in the PHKA2 gene (306000.0011-306000.0014). The mutations resulted in minor abnormalities in the primary structure of the protein. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that may be involved in the regulation of PHK. Hendrickx et al. (1996) postulated that PHK activity may be regulated by phosphorylation of these sites and that type II GSD9a may be due to impaired activation of PHK activity. The findings may explain why the in vitro PHK enzymatic activity is not deficient in type II, whereas it is in type I. Burwinkel et al. (1998) described 8 new mutations and phenotypic consequences in patients with X-linked liver glycogenosis. One of the patients reported by Burwinkel et al. (1998) had low PHK activity in the liver but elevated levels in erythrocytes, typical of XLG type II. This patient had a lys189-to-glu missense mutation (K189E; 306000.0015). The authors noted that this observation adds to the growing body of evidence that the XLG phenotype is associated with missense mutations clustering at a few sites in the PHKA2 gene. Hendrickx et al. (1999) identified PHKA2 mutations in 10 patients with XLG types I and II. They proposed that mutations in XLG type I, in which PHK activity is decreased in both liver and erythrocytes, results from truncation or disruption of the PHKA2 protein. In contrast, all type II mutations, which result in residual activity in erythrocytes, were missense mutations or small in-frame deletions and insertions. These results suggested that the biochemical differences between the 2 types of XLG are due to the different nature of the disease-causing mutations in PHKA2. Type I mutations may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme and deficient enzyme activity, whereas type II mutations may lead to in vivo deregulation of PHK, which might be difficult to demonstrate in vitro. Nomenclature The classification, particularly the numbering, of the glycogenoses has long been a matter of dispute. For example, Huijing (1970) referred to this disorder as glycogen storage disease type VIA; Hug (1974) assigned number VIII to a presumably recessive form of phosphorylase deficiency with brain involvement and number IX to phosphorylase kinase deficiency (see Schimke et al., 1973). McAdams et al. (1974) presented information on classification and morphology of the glycogenoses. Animal Model Schneider et al. (1993) reviewed the animal mutants that result in PHK-linked glycogenoses. Two different X-linked disorders are known, as well as an autosomal recessive PHK deficiency affecting the liver and most other tissues but not muscle, in the rat. INHERITANCE \- X-linked recessive GROWTH Height \- Growth retardation \- Normal final adult height ABDOMEN Liver \- Hepatomegaly \- Liver histology reveals glycogen-distended hepatocytes NEUROLOGIC Central Nervous System \- Motor developmental delay, mild LABORATORY ABNORMALITIES \- Liver phosphorylase kinase (PHK) deficiency \- Phosphorylase kinase normal in muscle \- Variable hypoglycemia \- Mild elevation of transaminases \- Mild elevation of cholesterol \- Mild elevation of triglycerides \- Fasting ketosis MISCELLANEOUS \- Clinical and biochemical abnormalities disappear with age MOLECULAR BASIS \- Caused by mutation in the liver phosphorylase alpha-2 subunit gene (PHKA2, 306000.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	GLYCOGEN STORAGE DISEASE IXa1	c2751643	26,179	omim	https://www.omim.org/entry/306000	2019-09-22T16:18:15	{"doid": ["0111042"], "mesh": ["C567809"], "omim": ["306000"], "orphanet": ["264580"], "synonyms": ["Alternative titles", "LIVER GLYCOGENOSIS, X-LINKED, TYPE I", "GLYCOGEN STORAGE DISEASE VIII, FORMERLY", "GSD VIII, FORMERLY"], "genereviews": ["NBK55061"]}
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: "Tracheal deviation" – news · newspapers · books · scholar · JSTOR (November 2016) (Learn how and when to remove this template message) Image shows early occurrence of tracheal deviation. Tracheal deviation is a clinical sign that results from unequal intrathoracic pressure within the chest cavity. It is most commonly associated with traumatic pneumothorax, but can be caused by a number of both acute and chronic health issues, such as pneumonectomy, atelectasis, pleural effusion, fibrothorax (pleural fibrosis), or some cancers (tumors within the bronchi, lung, or pleural cavity) and certain lymphomas associated with the mediastinal lymph nodes. In most adults and children, the trachea can be seen and felt directly in the middle of the anterior (front side) neck behind the jugular notch of the manubrium and superior to this point as it extends towards the larynx. However, when tracheal deviation is present, the trachea will be displaced in the direction of less pressure. Meaning, that if one side of the chest cavity has an increase in pressure (such as in the case of a pneumothorax) the trachea will shift towards the opposing side.[1] The trachea is the tube that carries air from the throat to the lungs. It is also commonly referred to as the windpipe. The trachea is one of the most important parts of the respiratory system and damage to the trachea can indicate a life-threatening emergency. The normal position of the trachea is straight up and down, running along the center of the front side of the throat. Certain conditions can cause the trachea to shift to one side or the other. This is a medical emergency that requires immediate medical attention to discover the cause of the shift and begin an appropriate course of treatment. There are several causes for a tracheal deviation, and the condition often presents along with difficulty breathing, coughing and abnormal breath sounds. The most common cause of tracheal deviation is a pneumothorax, which is a collection of air inside the chest, between the chest cavity and the lung. A pneumothorax can be spontaneous, caused by existing lung disease, or by trauma. Treatment varies, depending on the severity of the pneumothorax. Smaller pockets of air tend to dissipate on their own, while larger areas can cause complications and are usually vented by a needle in the chest. As soon as the pneumothorax is treated, the tracheal deviation also will resolve itself.[2] A congenital lack of one lung, surgical removal of a lung or pleural fibrosis, which is an inflammation of the lung membranes caused by an infection. As a result of the wide range of causes of tracheal deviation, it is absolutely essential to seek medical attention so that an accurate diagnosis can be obtained. Common Causes of Tracheal Deviation[3] Towards side (ipsilateral) of Lung Lesion Away from side (contralateral) of Lung Lesion Other Causes (Mediastinal Masses) Upper lobe or lung collapse Tension pneumothorax Retrosternal goitre) Upper lobe fibrosis Massive pleural effusion Lung cancer Pneumonectomy Lymphoma ## Treatment[edit] Since tracheal deviation is a sign as opposed to a condition, treatment is focused on correcting the cause of the finding. In the case of pneumothorax, thoracentesis or chest tube insertion is performed to relieve the pressure within the affected pleural cavity. ## References[edit] 1. ^ Khajotia, R (2012-04-30). "Respiratory Clinics: MEDIASTINAL SHIFT: A SIGN OF SIGNIFICANT CLINICAL AND RADIOLOGICAL IMPORTANCE IN DIAGNOSIS OF MALIGNANT PLEURAL EFFUSION". Malaysian Family Physician. 7 (1): 34–36. ISSN 1985-207X. PMC 4170449. PMID 25606244. 2. ^ "Pneumothorax Clinical Presentation: History, Physical Examination". emedicine.medscape.com. Retrieved 2016-11-28. 3. ^ Macleod's clinical examination. Douglas, Graham (Consultant physician),, Nicol, E. Fiona,, Robertson, Colin (Colin Ernest) (Thirteenth ed.). Edinburgh. 2013. p. 151. ISBN 978-0-7020-4728-2. OCLC 821067736.CS1 maint: others (link) * Hillegass, E. (2011). Essentials of Cardiopulmonary Physical Therapy. 3rd Edition. pg. 554 [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Tracheal deviation	c0392014	26,180	wikipedia	https://en.wikipedia.org/wiki/Tracheal_deviation	2021-01-18T18:31:04	{"umls": ["C0392014"], "wikidata": ["Q17141446"]}
Alström syndrome is a rare genetic disorder that affects many body systems. Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Alström syndrome	c0268425	26,181	gard	https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome	2021-01-18T18:02:12	{"mesh": ["D056769"], "omim": ["203800"], "umls": ["C0268425"], "orphanet": ["64"], "synonyms": ["ALMS", "ALSS", "Alstrom's syndrome", "Alstrom syndrome"]}
A disorder of the nose of horses Equine nasal cysts are abnormal fluid filled sacs which occur inside the nasal sinuses of horses. The cysts are lined with epithelium, and usually occur in the ventral conchae or maxillary sinuses,[1] most commonly in horses less than one year old.[2] Surgical removal of the cyst has a good prognosis for the horse. ## Contents * 1 Characteristics * 2 Diagnosis * 3 Treatment * 4 Prognosis * 5 Epidemiology * 6 See also * 7 References ## Characteristics[edit] The most common sign of a nasal cyst is facial swelling, with obstruction of the nasal passage.[3] Sometimes, a mucoid nasal discharge occurs, which is caused by obstruction to mucociliary clearance,[3] and therefore does not resolve following antibiotic treatment.[4] If the cyst is located in the caudal maxillary sinus, it may cause the eyeball on the affected side to bulge out of the orbit, known as exophthalmos.[5] ## Diagnosis[edit] Radiographs generally provide better results than endoscopic examination when diagnosing these problems; multiloculated densities and fluid lines show up more readily in the sinuses, occasionally with dental displacement and also dental and jaw line distortion, flattened roots in the teeth, mineralization and soft tissue calcification, and major deviation of the septum and vomer bones.[citation needed] ## Treatment[edit] Cysts are removed by surgery, which may be performed with the horse standing and sedated, or under general anesthesia.[3] Treatment involves surgical removal of the cyst and any of the involved lining of the concha. ## Prognosis[edit] The prognosis for a complete recovery is good, and the rate of any recurrence is minimal.[5] Some horses may have a mild mucous discharge after surgery, which can be permanent.[1] ## Epidemiology[edit] Most nasal cysts are identified in horses younger than one year old, but can also be diagnosed in horses over 9 years of age.[1] There is no known breed or sex predisposition for nasal cysts.[4] ## See also[edit] Ethmoid hematoma ## References[edit] 1. ^ a b c Rush, Bonnie R. (2019). "Sinus cysts". The Merck Veterinary Manual. Retrieved 2019-10-26. 2. ^ Rush, Bonnie; Mair, Tim (2008). "Paranasal sinus cysts". Equine Respiratory Diseases. Blackwell Science. pp. 48–49. ISBN 9781405155311. 3. ^ a b c Lane, J. Geoffrey. "Disorders of the ear, nose and throat". In Mair, Tim; Love, Sandy; Schumacher, James; Smith, Roger K.W.; Frazer, Grant (eds.). Equine medicine, surgery and reproduction (2nd ed.). Elsevier. p. 89. ISBN 9780702052026. 4. ^ a b Wilson, David (2010). "Sinonasal cysts". Clinical veterinary advisor. The horse. Elsevier Saunders. p. 527. ISBN 9781437714494. 5. ^ a b Dwyer, Ann E. (2016). "Practical field ophthalmology". In Gilger, Brian C. (ed.). Equine Ophthalmology (3rd ed.). John Wiley & Sons. p. 175. ISBN 9781119047858. This equine-related article is a stub. You can help Wikipedia by expanding it. * v * t * e This veterinary medicine–related article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Equine nasal cysts	None	26,182	wikipedia	https://en.wikipedia.org/wiki/Equine_nasal_cysts	2021-01-18T18:35:36	{"wikidata": ["Q5384509"]}
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600). Mapping Shugart et al. (2008) performed a high-density SNP genomewide linkage study of 993 multiply affected IBD pedigrees, 25% of which were of Jewish ancestry, and identified a significant locus on chromosome 13q13.3 (peak lod score of 3.98 at rs20411) in all CD pedigrees. There was no linkage evidence for the UC phenotype at this locus. In a 2-stage genomewide association and replication study involving a total of 1,384 Japanese UC patients and 3,057 controls, Asano et al. (2009) found significant association (heterogeneity-corrected p = 6.64 x 10(-8); odds ratio, 1.35) at rs17085007 on 13q12.13; fine mapping revealed that the associated region spanned 74 kb and contained no known genes. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	INFLAMMATORY BOWEL DISEASE 27	c2748550	26,183	omim	https://www.omim.org/entry/612796	2019-09-22T16:00:37	{"mesh": ["C567559"], "omim": ["612796"]}
A number sign (#) is used with this entry because common variants in several genes have been associated with increased susceptibility to development of ischemic stroke (see MOLECULAR GENETICS). A locus for susceptibility to ischemic stroke has been mapped to chromosome 5q12 (STRK1; 606799). Several conditions in which stroke occurs are inherited in a classic mendelian pattern. As reviewed by Tournier-Lasserve (2002), these monogenic disorders have a low prevalence but a high risk for stroke in mutation carriers. The genes that have been identified include APP (104760), BRI (603904), and CST3 (604312), causing autosomal dominant amyloid angiopathies; NOTCH3 (600276), causing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL; 125310); and KRIT1 (604214), causing cavernous angioma (116860). Description A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519). Other Features Among 512 Korean patients with ischemic stroke, Bang et al. (2005) found a significant association between intracranial atherosclerotic stroke (143 patients) and components of the metabolic syndrome (AOMS1; 605552), compared to those with extracranial atherosclerotic stroke (77 patients) and those with nonatherosclerotic stroke (292 patients). The association was particularly strong with regard to hypertension, abdominal obesity, and HDL cholesterol levels. Campbell et al. (2006) found that increased serum levels of soluble vascular adhesion molecule-1 (VCAM1; 192225) predicted recurrent ischemic stroke in a study of 252 patients. A smaller but similar trend was noted for serum levels of N-terminal pro-B-type natriuretic peptide (NPPB; 600295). Patients in the highest quarters for both sVCAM1 and NT-proBNP levels had 3.6 times the risk of recurrent ischemic stroke compared to patients in the lowest quarters for both biologic markers. Among 195 nondemented stroke survivors over age 75 years who were followed for 2 years for cognitive decline and 5 years for survival, Martin-Ruiz et al. (2006) found that longer telomeres in peripheral blood mononuclear cells (see 609113) was associated with decreased risk for death (p = 0.04) and dementia (p = 0.002) and with a smaller reduction in Mini-Mental State Examination score (p = 0.04). The authors suggested that peripheral leukocyte telomere length may serve as a biomarker for long-term stroke outcomes. Inheritance ### Genetic Factors Ischemic stroke is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors, and can therefore be viewed as a paradigm for late-onset, complex polygenic diseases (see Dominiczak and McBride, 2003). Several lines of evidence support a role for genetic factors in the pathogenesis of stroke. These include studies of twins (Brass et al., 1992) and familial aggregation (Brass and Shaker, 1991). Both environmental and genetic risk factors for ischemic stroke have been well characterized (Sacco et al., 1997). Chief among these are age (the single most important risk factor), hypertension, cardiac disease, sickle cell disease, and hyperhomocysteinemia. Intimal-medial thickness of the common and internal carotid arteries is strongly correlated with cerebrovascular accidents. Duggirala et al. (1996) demonstrated high heritability, with 66 to 74.9% of the total variation being accounted for by genetic factors and the remainder being attributable to covariates such as lipids, diabetes, blood pressure, and smoking. Catto (2001) reviewed evidence that stroke has a genetic basis and that the hemostatic system is an important risk factor for stroke. He evaluated the genetic regulation of a number of these hemostatic proteins. Pathogenesis Ischemic strokes can be further subdivided into large vessel strokes and those resulting from the occlusion of small intracerebral vessels. The majority of large vessel ischemic strokes are caused by thromboemboli arising from the carotid artery, aortic arch, or heart (Delanty and Vaughan, 1997). Small vessel strokes are associated with lipohyalinosis of small intracranial blood vessels observed as lacunae and leukoaraiosis on magnetic resonances imaging of the brain. Lacunar infarctions are associated with diabetes mellitus, hypertension, and disorders such as CADASIL (Pantoni and Garcia, 1997). ### Hypertension The importance of hypertension in stroke pathogenesis has conclusively been shown by large randomized prospective trials, demonstrating that treatment of hypertension reduces the risk of stroke by at least 40% (MacMahon et al., 1990). Hypertension not only accelerates atherosclerosis in the large arteries but also affects smaller penetrating arteries of the brain by a process known as lipohyalinosis or fibrinoid necrosis. This process weakens the vessel wall, and extravasation of blood through the disintegrating wall follows. Ultimately, this results either in thrombosis or in rupture of the vessel wall. Gunel and Lifton (1996) stated that not all hypertensive individuals develop lipohyalinosis, and lipohyalinosis has also been reported in normotensive individuals. These observations raise the possibility that genetic predisposition may be important in the pathogenesis of stroke. Such predisposition may include not only genes contributing to elevated blood pressure but also genes acting independently of blood pressure. Mapping See ATFB5 (611494) for discussion of an association between SNPs at chromosome 4q25 and the cardioembolic subtype of ischemic stroke. ### Associations Pending Confirmation In a genomewide association study of 4 large cohorts including 19,602 Caucasians in whom 1,544 incident strokes (1,164 ischemic strokes) developed over an average follow-up of 11 years, Ikram et al. (2009) found linkage to rs11833579 and rs12425791 on chromosome 12p13 near or within the NINJ2 gene (607297). Both SNPs showed significant associations with total stroke (p = 4.8 x 10(-9) and p = 1.5 x 10(-8), respectively) and ischemic stroke (p = 2.3 x 10(-10) and p = 2.6 x 10(-9), respectively). A significant association with rs12425791 was replicated in 3 additional cohorts, yielding an overall hazard ratio of 1.29 (p = 1.1 x 10(-9)). However, the International Stroke Genetics Consortium and Wellcome Trust Case-Control Consortium 2 (2010) failed to replicate an association between ischemic stroke and the variants rs11833579 and rs12425791 on 12p13 in a combined sample of 8,637 cases and 8,733 controls of European ancestry, as well as in a population-based genomewide cohort study of 278 ischemic strokes among 22,054 participants. Matsushita et al. (2010) specifically examined the association of rs11833579 and rs12425791 with ischemic stroke in a case-control study of 3,784 Japanese patients and 3,102 Japanese controls. After adjustment for age and cardiovascular risk factors, rs12425791 was significantly associated with atherothrombotic stroke (p = 0.0084; odds ratio of 1.15) in the total cohort. However, after sex stratification, the association was no longer significant for males (p = 0.086) and showed only a weak association with females (p = 0.027). There was no association between stroke and rs11833579 in any of the comparisons. Matsushita et al. (2010) performed a large case-control association study and a replication study in a total of 2,775 cases with atherothrombotic stroke and 2,839 controls. Through the analysis in 860 cases and 860 age- and sex-matched controls, the SNP rs2280887 in ARHGEF10 (608136) was significantly associated with atherothrombotic stroke even after the adjustment of multiple testing by a permutation test. The association was replicated in an independent set of 1,915 cases and 1,979 controls. Subsequent fine mapping found another 3 SNPs that showed similar association due to strong linkage disequilibrium to rs2280887. In the functional analyses of these 4 highly associated SNPs, rs4376531 affected ARHGEF10 transcriptional activity due to a difference in SP1 (189906)-binding affinity. In a small GTPase activity assay, the gene product of ARHGEF10 specifically activated RHOA (165390). A population-based cohort study revealed that subjects with rs4376531 CC or CG had an increased incidence of ischemic stroke (P = 0.033). The authors suggested that the functional SNP of ARHGEF10 confers susceptibility to atherothrombotic stroke. Chen et al. (2010) identified a single-nucleotide polymorphism (SNP), rs2507800, within the 3-prime untranslated region (UTR) of angiopoietin-1 (ANGPT1; 601667) that influences regulation of angiopoietin-1 by miR211 (613753). The A allele of rs2507800, but not the T allele, suppressed angiopoietin-1 translation by facilitating miR211 binding. Subjects carrying the TT genotype had higher plasma angiopoietin-1 levels than those with the A allele. The association of the variant with stroke was tested in 438 stroke patients and 890 controls, and replicated in an independent population of 1791 stroke patients and 1843 controls. The TT genotype resulted in a significant reduction in overall stroke risk (p = 0.0003), ischemic stroke (p = 0.007) and hemorrhagic stroke (p = 0.007). These results were confirmed in an independent study. The authors concluded that the TT genotype of rs2507800 in the 3-prime UTR of angiopoietin-1 might reduce the risk of stroke by interfering with miR211 binding. Molecular Genetics Zee et al. (2004) collected DNA samples at baseline in a prospective cohort of 14,916 initially healthy American men. The authors then genotyped 92 polymorphisms from 56 candidate genes among 319 individuals who subsequently developed ischemic stroke and among 2,092 individuals who remained free of reported cardiovascular disease over a mean follow-up period of 13.2 years. Two polymorphisms related to inflammation, val640-to-leu in the SELP gene (173610.0002) and a 582C-T transition in the IL4 gene (147780), were found to be independent predictors of thromboembolic stroke (odds ratio of 1.63, P = 0.001, and odds ratio of 1.40, P = 0.003, respectively). Casas et al. (2004) performed a comprehensive metaanalysis of 120 case-control studies of genetic associations in ischemic stroke in white adults and determined the pooled odds ratios (OR) conferred by specific genetic changes. Statistically significant associations were identified for 4 polymorphisms: factor V Leiden (R506Q; 612309.0001, OR of 1.33); methylenetetrahydrofolate reductase (A222V; 607093.0003, OR of 1.24); prothrombin (20210G-A; 176930.0009, OR of 1.44); and angiotensin-converting enzyme (insertion/deletion, OR of 1.21). These were also the most investigated candidate genes, including 4,588, 3,387, 3,028, and 2,990 cases, respectively. No statistically significant association with ischemic stroke was detected for the 3 next most investigated genes: factor VIII (300841), apolipoprotein E (107741), and human platelet antigen type 1 (173470). Casas et al. (2004) concluded that although there is no single gene with a major effect, common variants in several genes contribute to the risk of stroke. In a genomewide scan of 296 multiplex Icelandic families including 713 individuals with myocardial infarction (608557), Helgadottir et al. (2004) found suggestive linkage to chromosome 13q12-q13. By analysis of a candidate gene in the region, ALOX5AP (603700), they identified a 4-SNP haplotype, 'HapA' (defined by SG13S25, SG13S114, SG13S89, and SG13S32), that conferred a nearly 2 times greater risk of myocardial infarction and stroke. Another 4-SNP haplotype, 'HapB', was associated only with myocardial infarction. To assess further the contribution of the ALOX5AP variants HapA and HapB in a population outside Iceland, Helgadottir et al. (2005) genotyped 7 SNPs that defined both of these haplotypes from 450 patients with ischemic stroke and 710 controls from Aberdeenshire, Scotland. The haplotype that was at-risk in Iceland, HapA, had significantly greater frequency in Scottish patients than in controls. The carrier frequency in patients and controls was 33.4% and 26.4%, respectively, which resulted in a relative risk of 1.36 under the assumption of a multiplicative model (p = 0.007). They did not detect association between HapB and ischemic stroke in the Scottish cohort. However, HapB was overrepresented in male patients. Fornage et al. (2005) genotyped 12 SNPs in the EPHX2 gene (132811) in 315 stroke patients and 1,021 controls from the ARIC study and identified 2 common EPHX2 haplotypes that were associated with increased and decreased risk of ischemic stroke in African Americans (adjusted p less than 0.04). In whites, 2 different common haplotypes showed suggestive evidence for association with ischemic stroke risk but, as in African Americans, these relationships were in opposite direction. Fornage et al. (2005) suggested that multiple variants may exist within or near the EPHX2 gene, with greatly contrasting relationships to ischemic stroke incidence. In large studies in Japan, Kubo et al. (2007) demonstrated association between cerebral infarction (ischemic stroke) and a nonsynonymous SNP in the PRKCH gene (V374I; 605437.0001), which caused enhancement of PKC activity in transfected 293T cells. Furthermore, Kubo et al. (2007) found that PKC-eta was expressed mainly in vascular endothelial cells and foamy macrophages in human atherosclerotic lesions, and its expression increased as the lesion type progressed. These results supported a role for PRKCH in the pathogenesis of cerebral infarction. Berger et al. (2007) performed 2 large case-control studies involving 1,901 hospitalized stroke patients and 1,747 regional population controls and found that the E298D polymorphism of the NOS3 gene (163729.0001) was significantly associated with ischemic stroke independent of age, gender, hypertension, diabetes, and hypercholesterolemia. Zacho et al. (2008) studied 10,276 persons from a general population cohort, including 1,786 in whom ischemic heart disease developed (see 607339) and 741 in whom ischemic cerebrovascular disease developed, and an additional 31,992 persons from a cross-sectional general population study, of whom 2,521 had ischemic heart disease and 1,483 had ischemic cerebrovascular disease. Finally, Zacho et al. (2008) compared 2,238 patients with ischemic heart disease with 4,474 control subjects and 612 patients with ischemic cerebrovascular disease with 1,224 control subjects. Zacho et al. (2008) measured levels of high-sensitivity C-reactive protein (CRP: 123260) and conducted genotyping for 4 CRP polymorphisms and 2 apolipoprotein E polymorphisms (rs429358 and rs7412). The risk of ischemic heart disease and ischemic cerebrovascular disease was increased by a factor of 1.6 and 1.3, respectively, in persons who had CRP levels above 3 mg per liter, as compared with persons who had CRP levels below 1 mg per liter. Genotype combinations of the 4 CRP polymorphisms rs1205, 1130864, rs3091244, and rs3093077 were associated with an increase in CRP levels up to 64%, resulting in a theoretically predicted increased risk of up to 32% for ischemic heart disease and up to 25% for ischemic cerebrovascular disease. However, these genotype combinations were not associated with an increased risk of ischemic vascular disease. In contrast, Zacho et al. (2008) found that apolipoprotein E genotypes were associated with both elevated cholesterol levels and increased risk of ischemic heart disease. Zacho et al. (2008) concluded that polymorphisms in the CRP gene are associated with marked increases in CRP levels, but that these are not in themselves associated with an increased risk of ischemic vascular disease. Animal Model Rubattu et al. (1996) reported the chromosomal mapping of quantitative trait loci (QTLs) contributing to stroke in a rat model of this complex disorder of multifactorial and polygenic etiology. Using the stroke-prone spontaneously hypertensive rat (SHRSP) as a model organism, they mated it with the stroke-resistant spontaneously hypertensive rat (SHR) and performed a genomewide screen in the resultant F2 cohort where latency until stroke, but not hypertension (a major confounder), segregated. They identified 3 major QTLs: STR1, STR2, and STR3, with lod scores of 7.4, 4.7, and 3.0, respectively. These 3 QTLs accounted for 28% of the overall phenotypic variants. STR1 mapped to rat chromosome 1 and strongly affected latency to stroke in a recessive mode, accounting for 17.3% of overall phenotypic variants in the cross studied. Additional consideration of age-adjusted blood pressure values as a covariate had no effects on the resultant statistic, indicating to Rubattu et al. (1996) that this locus acts independently of blood pressure. STR2, on the other hand, conferred a significant protective effect against stroke in the presence of SHRSP alleles. STR2 accounted for 9.6% of overall variants in stroke latency. The peak protective effect mapped close to the gene coding for atrial natriuretic factor (ANF; 108780) on rat chromosome 5. In the rat, as in man and mouse, the gene for brain natriuretic factor, BNF, colocalizes with ANF. STR3, a locus linked to rat chromosome 4, conferred a similar, but less significant, recessive effect on preventing stroke in the presence of 2 SHRSP-derived alleles. Building on the work of Rubattu et al. (1996), Jeffs et al. (1997) designed studies to identify the genetic component responsible for large infarct volumes in the SHRSP in response to a focal ischemic insult by performing a genome scan in a F2 cross derived from the SHRSP and the normotensive reference rat strain WKY. They identified a highly significant QTL on rat chromosome 5 with a lod score of 16.6 that accounted for 67% of the total variance, colocalized with the genes encoding the atrial and brain natriuretic factors (see 108780 and 600295), and was blood pressure independent. In a rat model of ischemic stroke, Simard et al. (2006) found upregulation of the cation channel regulatory subunit Sur1 (600509) in ischemic neurons, astrocytes, and capillaries. Upregulation of Sur1 was linked to activation of the transcription factor Sp1 (189906) and was associated with expression of functional nonselective cation channels, which they called the NC(Ca-ATP) channel, but not K(ATP) channels. Treatment with low-dose glibenclamide, which blocks Sur1 and the NC(Ca-ATP) channel, reduced cerebral edema, infarct volume, and mortality by 50%. Simard et al. (2006) concluded that the NC(Ca-ATP) channel is involved in the development of cerebral edema and that targeting Sur1 may provide a new therapeutic approach to stroke. Arboleda-Velasquez et al. (2008) found that Notch3 knockout increased susceptibility of mice to ischemic challenge. Notch3-null mice showed larger ischemic lesions, more neurologic deficits, increased mortality, more severe cerebral blood flow deficits, and more frequent spontaneous periinfarct depolarizations compared with wildtype mice. Microarray analysis revealed over 600 differentially regulated genes, and all genes that regulate muscle contraction were downregulated. Neuro \- Stroke \- Motor, sensory and/or cognitive function loss Inheritance \- Multifactorial predisposition ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	STROKE, ISCHEMIC	c0948008	26,184	omim	https://www.omim.org/entry/601367	2019-09-22T16:14:57	{"doid": ["3526"], "omim": ["601367"], "synonyms": ["Alternative titles", "CEREBROVASCULAR ACCIDENT", "CEREBRAL INFARCTION"]}
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, 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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Charcot-Marie-Tooth disease type 2P	c3280797	26,185	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300319	2021-01-23T18:12:10	{"gard": ["12435"], "omim": ["614436"], "icd-10": ["G60.0"], "synonyms": ["CMT2P"]}
CLE is a well-described cause of respiratory distress in infancy and is characterized by hyperinflation of the affected lobe with compression of surrounding normal lung tissue. Although it can have various 'causes' including extrabronchial vascular compression, hypoplasia of the bronchial cartilages was thought to be the basis in reported familial cases (Wall et al., 1982). Affected sibs were described by Sloan (1953) and Hendren and McKee (1966). Wall et al. (1982) reported affected mother and daughter. Pulmonary \- Respiratory distress in infancy \- Hyperinflated lobe of lung \- Compressed normal lung tissue \- Bronchial cartilage hypoplasia 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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	EMPHYSEMA, CONGENITAL LOBAR	c0265797	26,186	omim	https://www.omim.org/entry/130710	2019-09-22T16:41:44	{"mesh": ["C535735"], "omim": ["130710"], "orphanet": ["1928"]}
A number sign (#) is used with this entry because of evidence that the Strudwick type of spondyloepimetaphyseal dysplasia is caused by heterozygous mutation in the type II collagen gene (COL2A1; 120140) on chromosome 12q13. Description The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). Clinical Features The features of the Strudwick type of SEMD include severe dwarfism, superficially resembling the Morquio syndrome, and pectus carinatum and scoliosis which are usually marked. Cleft palate and retinal detachment are frequently associated, as in spondyloepiphyseal dysplasia congenita (SEDC; 183900). A distinctive radiographic feature is irregular sclerotic changes, described as 'dappled' in the metaphyses of the long bones. This mottled appearance is created by alternating zones of osteosclerosis and osteopenia. The eponym Strudwick is derived from a prototype patient at the Johns Hopkins Hospital who was born with midface hemangioma, cleft palate, inguinal hernia, and clubfoot; his mental development was normal (Murdoch and Walker, 1969) (Anderson et al., 1982). Anderson et al. (1982) presented the clinical and radiographic findings in 8 patients, radiographs on an additional 6 patients, and morphologic observations on chondroosseous tissue from 2 of the 14 patients. Disproportionately short limbs and delayed epiphyseal maturation are present at birth. Radiologically the disorder is indistinguishable from SED congenita during infancy. Distinctive metaphyseal changes ('dappling'), which allow identification of the entity, develop during early childhood. The dappling is greater in the ulna than in the radius and greater in the fibula than in the tibia. Severe scoliosis and cord compression are important problems of early adulthood. Anderson et al. (1982) suggested that the cases reported by Kozlowski and Budzinska (1966) and Diamond (1974) may represent the same disorder. Spranger and Maroteaux (1982) were dubious about the distinctness of the syndrome from SED congenita. Kousseff and Nichols (1984) defended the diagnosis of Strudwick SMED in patients 5 and 6 in the report of Anderson et al. (1982). The children were judged to be of average intelligence; earlier, mental retardation was thought to be present and to distinguish their disorder from Strudwick dysplasia. Urinary tract anomalies were present in one of them. Sulko et al. (2005) described monozygotic twin girls with a phenotype resembling SEDC but with more severe shortening of stature than in SEDC and normal craniofacies. In addition, the twin girls had deformed chest, shortening of the extremities with the upper arms and the legs most severely affected, brachydactyly, and genu varum. Distinctive radiographic features included oval-shaped vertebral bodies with an anterior tongue-like protrusion, widened, irregular metaphyses, an irregular trabecular pattern at the end of the shaft of the tubular bones, and C1/C2 subluxation. The most severely affected metaphyses were the proximal femoral, distal tibial, and proximal humeral. Radiologic analysis of the short tubular bones showed that apart from shortening they were within normal limits. Inheritance Anderson et al. (1982) observed affected brother and sister with normal unrelated parents of Puerto Rican ancestry, and favored autosomal recessive inheritance. Tiller et al. (1995) later showed that Strudwick SEMD is inherited as an autosomal dominant trait. Molecular Genetics In 3 patients with SEMD Strudwick type, Tiller et al. (1993, 1995) found that cartilage contained both normal alpha-1(II) collagen chains and chains that were posttranslationally overmodified. By sequence analysis, they demonstrated heterozygosity for 3 different mutations in the COL2A1 gene (120140.0017, 120140.0027, and 120140.0028, respectively), thus establishing dominant inheritance. By sequencing of the COL2A1 gene in monozygotic twin girls with SEMD Strudwick, Sulko et al. (2005) identified heterozygosity for a missense mutation (120140.0047). History Maumenee and Cranley (1975) observed a seemingly novel type of spondylometaphyseal dysplasia in a brother and sister and their father. Involvement of the cervical and thoracic spine and hips was particularly severe. Abnormal storage of glycogen was demonstrated in cartilage cells of the iliac crest growth plate by histochemical methods and electron microscopy. Pettersson and Nilsson (1979) gave the designation spondylometaepiphyseal dysplasia to a disorder they observed in mother and daughter. Kozlowski et al. (1982) attempted a classification of this nosologically difficult category. INHERITANCE \- Autosomal dominant GROWTH Height \- Dwarfism, short-trunk, short-limbed HEAD & NECK Eyes \- Myopia Mouth \- Cleft palate CHEST External Features \- Pectus carinatum Ribs Sternum Clavicles & Scapulae \- Anteriorly splayed ribs ABDOMEN External Features \- Protuberant abdomen GENITOURINARY External Genitalia (Male) \- Inguinal hernia SKELETAL Spine \- Lordosis \- Platyspondyly \- Scoliosis \- Odontoid hypoplasia \- C1-C2 subluxation Pelvis \- Delayed pubic bone ossification \- Coxa vara \- Hypoplastic pubic bones \- Narrow sacrosciatic notches Limbs \- Generalized epiphyseal delay (infancy) \- Metaphyseal irregularity and sclerosis (childhood) \- Club-shaped proximal femurs (infancy) \- Genu valga \- Dappled metaphyses (proximal femora, proximal humeri, distal radii, distal ulnae, and proximal and distal tibiae and fibulae) \- Dappling greater in ulna than radius and fibula greater than tibia Hands \- Brachydactyly Feet \- Pes planus NEUROLOGIC \- Normal intelligence MOLECULAR BASIS \- Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0017 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	c0700635	26,187	omim	https://www.omim.org/entry/184250	2019-09-22T16:34:24	{"doid": ["0080028"], "mesh": ["C537501"], "omim": ["184250"], "orphanet": ["93346"], "synonyms": ["Alternative titles", "SEMD, STRUDWICK TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE", "SMED, STRUDWICK TYPE", "SMED, TYPE I", "STRUDWICK SYNDROME", "DAPPLED METAPHYSIS SYNDROME", "SPONDYLOMETAPHYSEAL DYSPLASIA", "SEMDC"], "genereviews": ["NBK540447"]}
Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder. This leads to the formation of cystine crystals and/or stones which may block the urinary tract. Signs and symptoms of the condition are related to the presence of stones and may include nausea, hematuria, flank pain, and/or frequent urinary tract infections. Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes and is inherited in an autosomal recessive manner. The goal of treatment is to relieve symptoms and prevent the formation of stones. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Cystinuria	c0010691	26,188	gard	https://rarediseases.info.nih.gov/diseases/6237/cystinuria	2021-01-18T18:00:59	{"mesh": ["D003555"], "omim": ["220100"], "umls": ["C0010691"], "orphanet": ["214"], "synonyms": ["CSNU", "Cystinuria-lysinuria"]}
A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Transitional cell carcinoma of the corpus uteri	c1516864	26,189	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213746	2021-01-23T18:47:25	{"icd-10": ["C54.9"], "synonyms": ["Endometrial transitional cell carcinoma"]}
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Spondyloepiphyseal dysplasia, Stanescu type	c4225273	26,190	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=459051	2021-01-23T17:14:57	{"omim": ["616583"], "icd-10": ["Q77.7"], "synonyms": ["SED, Stanescu type"]}
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Combined oxidative phosphorylation defect type 21	c4014668	26,191	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420733	2021-01-23T17:16:27	{"omim": ["615918"], "icd-10": ["E88.8"], "synonyms": ["COXPD21"]}
Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Unspecified juvenile idiopathic arthritis	None	26,192	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91140	2021-01-23T17:42:17	{"icd-10": ["M08.8"], "synonyms": ["Unspecified JIA"]}
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA) and abbreviated as ATTR,[1] is a disease that typically affects the heart and tendons of elderly people. It is caused by accumulation of a wild-type (that is to say a normal) protein called transthyretin. This is in contrast to a related condition called transthyretin-related hereditary amyloidosis where a genetically mutated transthyretin protein tends to deposit at a much earlier age than in WTTA, due to abnormal conformation and bioprocessing. It belongs to a group of diseases called amyloidosis, chronic progressive conditions linked to abnormal deposition of normal or abnormal proteins, because these proteins are misshapen and cannot be properly degraded and eliminated by the cell metabolism. ## Contents * 1 Signs and symptoms * 2 Natural course * 3 Diagnosis * 4 Treatment * 4.1 Orphan drug status for transthyretin (TTR) amyloidosis * 5 See also * 6 References * 7 External links ## Signs and symptoms[edit] Wild-type transthyretin amyloid accumulates mainly in the heart, where it causes stiffness and often thickening of its walls, leading consequently to shortness of breath and intolerance to exercise, called diastolic dysfunction. Excessively slow heart rate can also occur, such as in sick sinus syndrome, with ensuing fatigue and dizziness. Wild-type transthyretin deposition is also a common cause of carpal tunnel syndrome in elderly men, which may cause pain, tingling and loss of sensation in the hands. Some patients may develop carpal tunnel syndrome as an initial symptom of wild-type transthyretin amyloid.[2] There appears to be an increase in the risk for developing hematuria or blood in the urine due to urological lesions. ## Natural course[edit] The disorder typically affects the heart and its prevalence increases in older age groups. Men are affected much more frequently than women.[3] In fact, up to 25% of men over the age of 80 may have evidence of WTTA.[4] Patients often present with increased thickness of the wall of the main heart chamber, the left ventricle. People affected by WTT amyloidosis are likely to have required a pacemaker before diagnosis and have a high incidence of a partial electrical blockage of the heart, known as left bundle branch block. Low ECG signals such as QRS complexes are widely considered a marker of cardiac amyloidosis.[5] A much better survival has been reported for patients with WTTA as opposed to cardiac AL amyloidosis.[6] ## Diagnosis[edit] The condition is suspected in an elderly person, especially male, presenting with symptoms of heart failure such as shortness of breath or swollen legs, and or disease of the electrical system of the heart with ensuing slow heart rate, dizziness or fainting spells.[7] The diagnosis is confirmed on the basis of a biopsy, which can be treated with a special stain called Congo Red that will be positive in this condition, and immunohistochemistry. ## Treatment[edit] No drug has been shown to be able to arrest or slow down the process of this condition.[8] There is promise that two drugs, tafamidis and diflunisal,[9] may improve the outlook, since they were demonstrated in randomized clinical trials to benefit patient affected by the related condition FAP-1 otherwise known as transthyretin-related hereditary amyloidosis. Permanent pacing can be employed in cases of symptomatic slow heart rate (bradycardia). Heart failure medications can be used to treat symptoms of difficulty breathing and congestion.[10] ### Orphan drug status for transthyretin (TTR) amyloidosis[edit] Because of preliminary data suggesting the drug may have activity, the U.S. FDA has granted tolcapone[11][circular reference] "orphan drug status" in studies aiming at the treatment of transthyretin familial amyloidosis (ATTR). However, tolcapone is not FDA approved for the treatment of this disease.[12][13] ## See also[edit] * Transthyretin-related hereditary amyloidosis * Amyloidosis ## References[edit] 1. ^ Pinney JH, Whelan CJ, Petrie A, Dungu J, Banypersad SM, Sattianayagam P, Wechalekar A, Gibbs SD, Venner CP, Wassef N, McCarthy CA, Gilbertson JA, Rowczenio D, Hawkins PN, Gillmore JD, Lachmann HJ (April 2013). "Senile systemic amyloidosis: clinical features at presentation and outcome". Journal of the American Heart Association. 2 (2): e000098. doi:10.1161/JAHA.113.000098. PMC 3647259. PMID 23608605. 2. ^ Sekijima Y, Uchiyama S, Tojo K, Sano K, Shimizu Y, Imaeda T, Hoshii Y, Kato H, Ikeda S (November 2011). "High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly". Human Pathology (Submitted manuscript). 42 (11): 1785–91. doi:10.1016/j.humpath.2011.03.004. PMID 21733562. 3. ^ Ng B, Connors LH, Davidoff R, Skinner M, Falk RH (June 2005). "Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis". Archives of Internal Medicine. 165 (12): 1425–9. doi:10.1001/archinte.165.12.1425. PMID 15983293. 4. ^ Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L (2008-01-01). "Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study". Annals of Medicine. 40 (3): 232–9. doi:10.1080/07853890701842988. PMID 18382889. S2CID 23446885. 5. ^ Falk RH (September 2005). "Diagnosis and management of the cardiac amyloidoses". Circulation. 112 (13): 2047–60. doi:10.1161/CIRCULATIONAHA.104.489187. PMID 16186440. 6. ^ Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S (September 2009). "Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types". Circulation. 120 (13): 1203–12. doi:10.1161/CIRCULATIONAHA.108.843334. PMID 19752327. 7. ^ Banypersad SM, Moon JC, Whelan C, Hawkins PN, Wechalekar AD (April 2012). "Updates in cardiac amyloidosis: a review". Journal of the American Heart Association. 1 (2): e000364. doi:10.1161/JAHA.111.000364. PMC 3487372. PMID 23130126. 8. ^ Dubrey S, Ackermann E, Gillmore J (August 2015). "The transthyretin amyloidoses: advances in therapy". Postgraduate Medical Journal. 91 (1078): 439–48. doi:10.1136/postgradmedj-2014-133224. PMID 26048914. S2CID 8077907. 9. ^ Sekijima Y (June 2014). "Recent progress in the understanding and treatment of transthyretin amyloidosis". Journal of Clinical Pharmacy and Therapeutics. 39 (3): 225–33. doi:10.1111/jcpt.12145. PMID 24749898. S2CID 20492854. 10. ^ Quarta CC, Kruger JL, Falk RH (September 2012). "Cardiac amyloidosis". Circulation. 126 (12): e178–82. doi:10.1161/CIRCULATIONAHA.111.069195. PMID 22988049. 11. ^ Tolcapone 12. ^ orphan drug status for tolcapone 13. ^ Reig, N.; Ventura, S.; Salvadó, M.; Gámez, J.; Insa, R. (2015). "SOM0226, a repositioned compound for the treatment of TTR amyloidosis". Orphanet J Rare Dis. 10 (Suppl 1): P9. doi:10.1186/1750-1172-10-s1-p9. PMC 4642128. ## External links[edit] * The Amyloidosis Center at Boston University * Mayo Clinic Definition * A Patient Guide to Amyloidosis [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Wild-type transthyretin amyloid	c2732618	26,193	wikipedia	https://en.wikipedia.org/wiki/Wild-type_transthyretin_amyloid	2021-01-18T18:34:06	{"orphanet": ["330001"], "synonyms": ["ATTRwt amyloidosis", "ATTRwt-related amyloidosis", "SSA", "Senile systemic amyloidosis", "Wild type ATTR-related amyloidosis"], "wikidata": ["Q23808179"]}
Autosomal recessive cerebellar ataxia (Orphanet 3711) describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia. It may refer to: * Autosomal recessive cerebellar ataxia type 1, a.k.a. autosomal recessive ataxia, Beauce type * Autosomal recessive cerebelloparenchymal disorder type 3 * Dysequilibrium syndrome * CAMOS syndrome * Cerebellar ataxia, Cayman type * Joubert syndrome with oculorenal defect * Joubert syndrome * Joubert syndrome with hepatic defect * Orofaciodigital syndrome type 6 * Joubert syndrome with ocular defect * Joubert syndrome with renal defect * Joubert syndrome with Jeune asphyxiating thoracic dystrophy * Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency * Congenital cerebellar ataxia due to RNU12 mutation * Ataxia with vitamin E deficiency * Abetalipoproteinemia * Refsum disease * Cerebrotendinous xanthomatosis * Infantile Refsum disease * Recessive mitochondrial ataxia syndrome * Autosomal recessive ataxia due to PEX10 deficiency * Autosomal recessive cerebellar ataxia with late-onset spasticity * Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency * Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency * Ataxia-telangiectasia * Ataxia-oculomotor apraxia type 1 * Spinocerebellar ataxia with axonal neuropathy type 2 * Spinocerebellar ataxia with axonal neuropathy type 1 * Xeroderma pigmentosum-Cockayne syndrome complex * Ataxia-telangiectasia-like disorder * Xeroderma pigmentosum * RIDDLE syndrome * Friedreich ataxia * Early-onset cerebellar ataxia with retained tendon reflexes * Infantile onset spinocerebellar ataxia * Marinesco-Sjögren syndrome * Congenital cataracts-facial dysmorphism-neuropathy syndrome * Posterior column ataxia-retinitis pigmentosa syndrome * Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome * Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, a.k.a. spinocerebellar ataxia, autosomal recessive 3 (SCAR3) * Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome * Autosomal recessive cerebellar ataxia-psychomotor delay syndrome * Ataxia-oculomotor apraxia type 4 * Gemignani syndrome, a.k.a. spinocerebellar ataxia-amyotrophy-deafness syndrome * Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome * Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, aka spinocerebellar ataxia, autosomal recessive 21 (SCAR21) * Autosomal recessive ataxia due to ubiquinone deficiency * Adult-onset autosomal recessive cerebellar ataxia * Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia * Infantile-onset autosomal recessive nonprogressive cerebellar ataxia, a.k.a. spinocerebellar ataxia, autosomal recessive 6 (SCAR6) * Spectrin-associated autosomal recessive cerebellar ataxia * Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency * Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency * Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency * Autosomal recessive cerebellar ataxia due to STUB1 deficiency Index of articles associated with the same name This article includes a list of related items that share the same name (or similar names). If an internal link incorrectly led you here, you may wish to change the link to point directly to the intended article. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Autosomal recessive cerebellar ataxia	None	26,194	wikipedia	https://en.wikipedia.org/wiki/Autosomal_recessive_cerebellar_ataxia	2021-01-18T19:05:36	{"orphanet": ["1172"], "synonyms": ["ARCA"], "wikidata": ["Q4826996"]}
Wrist osteoarthritis Other namesOsteoarthritis of the wrist SpecialtyOrthopedic Wrist osteoarthritis is a group of mechanical abnormalities resulting in joint destruction, which can occur in the wrist. These abnormalities include degeneration of cartilage and hypertrophic bone changes, which can lead to pain, swelling and loss of function. Osteoarthritis of the wrist is one of the most common conditions seen by hand surgeons.[1][2] Osteoarthritis of the wrist can be idiopathic, but it is mostly seen as a post-traumatic condition.[1][3] There are different types of post-traumatic osteoarthritis. Scapholunate advanced collapse (SLAC) is the most common form, followed by scaphoid non-union advanced collapse (SNAC).[4] Other post-traumatic causes such as intra-articular fractures of the distal radius or ulna can also lead to wrist osteoarthritis, but are less common. ## Contents * 1 Types * 1.1 SLAC * 1.2 SNAC * 1.3 Stages * 2 Signs and symptoms * 3 Mechanism * 3.1 Proximal row * 3.2 Distal row * 4 Diagnosis * 4.1 Medical history * 4.2 Physical examination * 4.3 X-rays * 5 Treatment * 5.1 Stage I * 5.2 Stage II * 5.3 Stage III * 5.4 Stage IV * 6 References ## Types[edit] Scapholunate advanced collapse SLAC and SNAC are two patterns of wrist osteoarthritis, following predictable patterns depending of the type of underlying injury. SLAC is caused by scapholunate ligament rupture, and SNAC is caused by a scaphoid fracture which does not heal and because of that will develop in a non-union fracture. SLAC is more common than SNAC; 55% of the patients with wrist osteoarthritis has a SLAC wrist.[4] ### SLAC[edit] Scapholunate advanced collapse (SLAC) is a predictable pattern of wrist osteoarthritis that results from untreated long-standing scapholunate instability, which in turn is secondary to a rupture of the scapholunate ligament.[5] The main type of such misalignment is dorsal intercalated segment instability (DISI) which is where the lunate angulates to the posterior side of the hand.[3][6] ### SNAC[edit] Scaphoid nonunion advanced collapse Scaphoid non-union fractures changes scaphoid bone shape, which leads to abnormal joint kinematics. Due to lack of stability from the distorted scaphoid, a DISI can be developed.[3][6] Scaphoid Non-union Advanced collapse (SNAC) is the pattern of osteoarthritis that eventually develops by this process. ### Stages[edit] Post-traumatic osteoarthritis can be classified into four stages.[1][7] These stages are similar between SLAC and SNAC wrists. Each stage has a different treatment. * Stage I: the osteoarthritis is only localized in the distal scaphoid and radial styloid. * Stage II: the osteoarthritis is localized in the entire radioscaphoid joint. * Stage III: the osteoarthritis is localized in the entire radioscaphoid joint with involvement of the capitolunate joint. * Stage IV: the osteoarthritis is located in the entire radiocarpal joint and in the intercarpal joints. It also may involve the distal radio-ulnar joint (DRUJ). * Stage I * Stage II * Stage III * Stage IV ## Signs and symptoms[edit] The most common initial symptom of wrist osteoarthritis is joint pain.[8][9] The pain is brought on by activity and increases when there is activity after resting. Other signs and symptoms, as with any joint affected by osteoarthritis, include: * Morning stiffness, which usually lasts less than 30 minutes. This is also present in patients with rheumatoid arthritis, but in those patients this typically lasts for more than 45 minutes. * Swelling of the wrist. * Crepitus (crackling), which is felt when the hand is moved passively.[9] * Joint locking, where the joint is fixed in an extended position. * Joint instability. These symptoms can lead to loss of function and less daily activity.[8] ## Mechanism[edit] Anatomy wrist In order to understand the cause of post-traumatic wrist osteoarthritis it is important to know and understand the anatomy of the wrist. The hand is subdivided into three parts: * Wrist * Metacarpus * Digits The wrist consists of eight small carpal bones. Each of these carpal bones has a different size and shape. They contribute towards the stability of the wrist and are ranked in two rows, each consisting of four bones. ### Proximal row[edit] From lateral to medial and when viewed from anterior, the proximal row is formed by the: * Scaphoid * Lunate * Triquetral * Pisiform ### Distal row[edit] From lateral to medial and when viewed from anterior, the distal row is formed by the: * Trapezium * Trapezoid * Capitate * Hamate ## Diagnosis[edit] Osteoarthritis of the wrist is predominantly a clinical diagnosis, and thus is primarily based on the patients medical history, physical examination and wrist X-rays.[3] ### Medical history[edit] Medical history of the patient should include age, hand dominance, occupation and most important an evaluation of recent hand traumas.[8] ### Physical examination[edit] Examination will often show tenderness at the radioscaphoid joint (when palpated or while moving the radioscaphoid joint), dorsal radial swelling and instability of the wrist joint.[3] Notice that people may say they have trouble with rising from a chair when pressure is exerted on the hands by pushing against the handrail. Younger people may complain about not being able to do push-ups anymore because of a painful hand. There are a number of tests and actions that can be performed when a patient is suspected of having osteoarthritis caused by SLAC or SNAC. SLAC: * Tenderness 1 cm above Lister’s tubercle Tests: * Watson's test * Finger extension test SNAC: * Tenderness at the anatomical snuff box * Painful pronation and supination when performed against resistance * Pain during axial pressure ### X-rays[edit] Osteoarthritis between the radius bone and the carpals is indicated by a radiocarpal joint space of less than 2mm.[10] SLAC Further information: Scapholunate ligament Because SLAC results from scapholunate ligament rupture, there is a larger space between the two bones, also known as the Terry Thomas sign. Osteoarthritis and a space larger than 3 mm is suspicious and a space larger than 5 mm is a proven SLAC pathology.[11] Scaphoid instability due to the ligament rupture can be stactic or dynamic.[12] When the X-ray is diagnostic and there is a convincing Terry Thomas sign it is a static scaphoid instability. When the scaphoid is made unstable by either the patient or by manipulation by the examining physician it is a dynamic instability.[12] SNAC In order to diagnose a SNAC wrist you need a PA view X-ray and a lateral view X-ray. As in SLAC, the lateral view X-ray is performed to see if there is a DISI.[13] Computed tomography (CT) or Magnetic Resonance Imaging (MRI) are rarely used to diagnose SNAC or SLAC wrist osteoarthritis because there is no additional value.[8] Also, these techniques are much more expensive than a standard X-ray. CT or MRI may be used if there is a strong suspicion for another underlying pathology or disease.[8] ## Treatment[edit] Post-traumatic wrist osteoarthritis can be treated conservatively or with a surgical intervention. In many patients, a conservative (non-surgical) approach is sufficient. Because osteoarthritis is progressive and symptoms may get worse, surgical treatment is advised in any stage.[1][2][3][7] ### Stage I[edit] For stage I, normally, nonsurgical treatment is sufficient. This type of therapy includes the use of splint or cast immobilization, injections of corticosteroid in the pain causing joints and the use of a systemic non-steroidal anti-inflammatory drug to reduce pain and improve the functional use of the affected joint. However, the amount of pain that can be suppressed by nonsurgical therapy is limited and with the progression of the wrist osteoarthritis surgical treatment is inevitable.[14] In stage I surgical treatment often consists of neurectomy of the posterior interosseous nerve and is often combined with other procedures. In the case of a SLAC, the scapholunate ligament can be reconstructed in combination with a radial styloidectomy, in which the radial styloid is surgically removed from the distal radius. In the case of a SNAC, the scaphoid can be reconstructed by fixating the scaphoid with a screw or by placing a bone graft(Matti-Russe procedure) to increase the stability of the scaphoid.[14] Four corner arthrodesis ### Stage II[edit] In the treatment of stage II wrist osteoarthritis, there are two treatment options that have proved to be most successful. The first treatment option is proximal row carpectomy. During this surgical intervention the proximal row of the carpal bones is removed (scaphoid, lunate, triquetrum, pisiform).[15] It is important that the radioscaphocapitate ligament is left intact, because if the ligament is not preserved the capitate bone will translate to the ulnar side of the wrist and move away from the distal radius.[1][16] The new formed joint between the capitate and the lunate fossa of the distal radius is not as congruent as the former scaphoid-lunate-radius joint,[17][18] however the results of proximal row carpectomy are generally excellent.[18][19][20] In patients older than 40 years proximal row carpectomy is preferred because these patients have a small chance of developing osteoarthritis in the new formed capitate-radial joint during their remaining life.[7][21] Patients younger than 40 years have a big chance to develop osteoarthritis in the radiocapitate joint. These patients have longer to live, therefore the incongruence of the joint will exist for a longer time. Thus, in this patient population four-corner arthrodesis is the treatment of first choice.[7] The capitate, lunate, hamate and triquetrum are bounded together in this procedure and the scaphoid is excised.[1][15] Before the arthrodesis is executed, the lunate must be reduced out of DISI position.[15] Because the radiolunate joint is typically preserved in stage II SLAC and SNAC wrists, this joint can be the only remaining joint of the proximal wrist. Both procedures are often combined with wrist denervation, as described in the text of treatment stage I. ### Stage III[edit] The only treatment option for stage III wrist osteoarthritis is four-corner arthrodesis, as described above in stage II. Proximal row carpectomy is not an option, because in stage III patients the capitate is already affected by the osteoarthritis. So, this procedure would merely lead to a new painful joint. ### Stage IV[edit] In this stage there are two surgical treatment options; total wrist arthroplasty and total wrist arthrodesis. Total wrist arthrodesis has become the standard surgical treatment for patients with stage IV wrist osteoarthritis. During this procedure the carpal bones are all fused together and are then fastened to the distal radius.[15] Patients who still want to undertake heavy labor benefit the most of this surgical approach,[22] because after surgery and recovery this is still possible. However, the arc of motion is extremely diminished by this type of surgery. The best option for those who wish for a motion-sparing procedure is total wrist arthroplasty. However, impact loading should be avoided, an object heavier than 4.5 kg should not be lifted.[23] So, this surgical approach has postoperative activity restrictions. Nevertheless, patients with a total wrist arthrodesis on one side and a total wrist arthroplasty on the other, prefer the total wrist arthroplasty.[24] The procedure exists of a couple of elements. First, the proximal row is removed and the distal row is fastened to the metacarpals. Then, one side of the arthroplasty is placed upon the distal row and the other side on the distal radius. Additionally, the head of the ulna is removed.[15] ## References[edit] 1. ^ a b c d e f Weiss, KE; Rodner, CM (May–June 2007). "Osteoarthritis of the Wrist, Review article". The Journal of Hand Surgery. 32A (5): 725–46. doi:10.1016/j.jhsa.2007.02.003. PMID 17482013. 2. ^ a b Talwalkar, SC; Hayton MC; Stanley JK (2008). "Wrist osteoarthritis". Scand J Surg. 97 (4): 305–9. doi:10.1177/145749690809700406. PMID 19211384. 3. ^ a b c d e f Shah, CM; Stern PJ (2013). "Scapholunate advanced collapse (SLAC) and scaphoid nonunion advanced collapse (SNAC) wrist arthritis". Curr Rev Musculoskelet Med. 6 (1): 9–17. doi:10.1007/s12178-012-9149-4. PMC 3702758. PMID 23325545. 4. ^ a b Bisneto EN, Freitas MC, Paula EJ, Mattar R, Zumiotti AV (2011). "Comparison between proximal row carpectomy and four-corner fusion for treating osteoarthrosis following carpal trauma: a prospective randomized study". Clinics (Sao Paulo, Brazil). 66 (1): 51–5. doi:10.1590/s1807-59322011000100010. PMC 3044580. PMID 21437436. 5. ^ Tischler, Brian T.; Diaz, Luis E.; Murakami, Akira M.; Roemer, Frank W.; Goud, Ajay R.; Arndt, William F.; Guermazi, Ali (2014). "Scapholunate advanced collapse: a pictorial review". Insights into Imaging. 5 (4): 407–417. doi:10.1007/s13244-014-0337-1. ISSN 1869-4101. PMC 4141341. PMID 24891066. 6. ^ a b Omori, S; Moritomo, H; Omokawa, S; Murase, T; Sugamoto, K; Yoshikawa, H (July 2013). "In vivo 3-dimensional analysis of dorsal intercalated segment instability deformity secondary to scapholunate dissociation: a preliminary report". The Journal of Hand Surgery. 38 (7): 1346–55. doi:10.1016/j.jhsa.2013.04.004. PMID 23790423. 7. ^ a b c d Strauch, RJ (Apr 2011). "Scapholunate advanced collapse and scaphoid nonunion advanced collapse arthritis--update on evaluation and treatment". The Journal of Hand Surgery. 36 (4): 729–735. doi:10.1016/j.jhsa.2011.01.018. PMID 21463735. 8. ^ a b c d e Sinusas, K (2012). "Osteoarthritis: diagnosis and treatment". Am Fam Physician. 85 (1): 49–56. PMID 22230308. 9. ^ a b Manek, NJ; Lane NE (2000). "Osteoarthritis: current concepts in diagnosis and management". Am Fam Physician. 61 (6): 1795–804. PMID 10750883. 10. ^ "Radiocarpal joint space". radref.org. Retrieved 2017-01-18. 11. ^ Wolfe, SW; Hotchkiss, RN (2011). Green's Operative Hand Surgery, 6th Edition (6th ed.). Churchill Livingstone. ISBN 978-1-4160-5279-1. 12. ^ a b Jupiter, JB; Edwards, JE (1991). Flynn's hand surgery, fourth edition; chapter 10 dislocations and fracture dislocations of the carpus (4th ed.). Baltimore: Williams&Wilkins. pp. 198–199. ISBN 978-0-683-04490-4. 13. ^ Novelline, RA (2004). Squire's fundamentals of radiology, 6th Edition (6th ed.). United States of America: President and fellows of Harvard college. ISBN 978-0-674-01279-0. 14. ^ a b Dacho, A; Grundel, J (2006). "Long-term results of midcarpal arthrodesis in the treatment of scaphoid nonunion advanced collapse (SNAC-Wrist) and scapholunate advanced collapse (SLAC-Wrist)". Annals of Plastic Surgery. 56 (2): 139–144. doi:10.1097/01.sap.0000194245.94684.54. PMID 16432320. 15. ^ a b c d e Berger, RA; Weiss, APC (2004). Hand surgery, first edition; Principles of Limited Wrist Arthrodesis (1st ed.). Philadelphia: Lippincott Williams & Wilkins. pp. 1290–1295, 1320–1329, 1352–1373. ISBN 978-0-7817-2874-4. 16. ^ Berger, RA; Landsmeer, JM (1990). "The palmar radiocarpal ligaments: a study of adult and fetal hunman wrist joints". The Journal of Hand Surgery. 15 (6): 847–854. doi:10.1016/0363-5023(90)90002-9. PMC 2328843. PMID 2269772. 17. ^ Inglis, AE; Jones, EC (1977). "Proximal row carpectomy for diseases of the proximal row". The Journal of Hand Surgery. 59A (4): 460–463. PMID 863938. 18. ^ a b Imrbiglia, JE; Broudy, AS; Hagberg, WC (1990). "Proximal row carpectomy: clinical evaluation". The Journal of Hand Surgery. 15 (3): 426–430. doi:10.1016/0363-5023(90)90054-U. PMID 2348060. 19. ^ Tomaino, MM; Delsignore, J; Burton, RI (1994). "Long-term results following proximal row carpectomy". The Journal of Hand Surgery. 19A (4): 694–703. doi:10.1016/0363-5023(94)90284-4. PMID 7963335. 20. ^ DiDonna, ML; Kiefhaber, TR; Stern, PJ (2004). "Proximal row carpectomy: study with a minimum of ten years of follow-up". The Journal of Bone and Joint Surgery. 86A (11): 2359–2365. doi:10.2106/00004623-200411000-00001. PMID 15523004. 21. ^ Wall, LB; DiDonna, ML (Aug 2013). "Proximal row carpectomy: minimum 20-year follow-up". The Journal of Hand Surgery. 38 (8): 1498–1504. doi:10.1016/j.jhsa.2013.04.028. PMID 23809467. 22. ^ Weiss, APC; Hastings, H (Jan 1995). "Wrist arthrodesis for traumatic conditions: a study of plate and local bone graft application". The Journal of Hand Surgery. 20A (5): 50–56. doi:10.1016/S0363-5023(05)80058-9. PMID 7722266. 23. ^ Anderson, MC; Adams, BD (2005). "Total wrist arthroplasty". Hand Clinics. 21 (4): 621–630. doi:10.1016/j.hcl.2005.08.014. PMID 16274871. 24. ^ Vicar, AJ; Burton, RI (1988). "Surgical management of the rheumatoid wrist-fusion or arthroplasty". The Journal of Hand Surgery. 11A (6): 790–797. doi:10.1016/s0363-5023(86)80224-6. PMID 3794231. Wikimedia Commons has media related to Wrist osteoarthritis. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Wrist osteoarthritis	c0409955	26,195	wikipedia	https://en.wikipedia.org/wiki/Wrist_osteoarthritis	2021-01-18T19:00:21	{"icd-10": ["M19.93"], "wikidata": ["Q15874451"]}
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but it can occur at any age. Sjögren syndrome is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In Sjögren syndrome, the immune system primarily attacks the glands that produce tears (the lacrimal glands) and saliva (the salivary glands), impairing the glands' ability to secrete these fluids. Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel chalky or full of cotton, and affected individuals may have difficulty speaking, tasting food, or swallowing. Because saliva helps protect the teeth and the tissues of the oral cavity, people with Sjögren syndrome are at increased risk of tooth decay and infections in the mouth. In most people with Sjögren syndrome, dry eyes and dry mouth are the primary features of the disorder, and general health and life expectancy are largely unaffected. However, in some cases the immune system also attacks and damages other organs and tissues. This complication is known as extraglandular involvement. Affected individuals may develop inflammation in connective tissues, which provide strength and flexibility to structures throughout the body. Disorders involving connective tissue inflammation are sometimes called rheumatic conditions. In Sjögren syndrome, extraglandular involvement may result in painful inflammation of the joints and muscles; dry, itchy skin and skin rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and extreme tiredness (fatigue) severe enough to affect activities of daily living may also occur in this disorder. A small number of people with Sjögren syndrome develop lymphoma, a blood-related cancer that causes tumor formation in the lymph nodes. Some individuals who are first diagnosed with another rheumatic disorder, such as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry eyes and dry mouth characteristic of Sjögren syndrome. Other autoimmune disorders can also develop after the onset of Sjögren syndrome. In all, about half of all individuals with Sjögren syndrome also have another autoimmune disorder. ## Frequency Sjögren syndrome is a relatively common disorder; it occurs in 0.1 to 4 percent of the population. It is difficult to determine the exact prevalence because the characteristic features of this disorder, dry eyes and dry mouth, can also be caused by many other conditions. Women develop Sjögren syndrome about 10 times more often than men; the specific reason for this difference is unknown but likely involves the effects of sex hormones on immune system function. ## Causes Sjögren syndrome is thought to result from a combination of genetic and environmental factors; however, no associations between specific genetic changes and the development of Sjögren syndrome have been confirmed. Researchers believe that variations in many genes affect the risk of developing Sjögren syndrome, but that development of the condition may be triggered by something in the environment. In particular, viral or bacterial infections, which activate the immune system, may have the potential to encourage the development of Sjögren syndrome in susceptible individuals. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed. ## Inheritance Pattern A predisposition to develop autoimmune disorders can be passed through generations in families. Relatives of people with Sjögren syndrome are at an increased risk of developing autoimmune diseases, although they are not necessarily more likely to develop Sjögren syndrome in particular. The inheritance pattern of this predisposition is unknown. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Sjögren syndrome	c1527336	26,196	medlineplus	https://medlineplus.gov/genetics/condition/sjogren-syndrome/	2021-01-27T08:25:47	{"gard": ["10252"], "mesh": ["D012859"], "omim": ["270150"], "synonyms": []}
## Summary ### Clinical characteristics. Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset. ### Diagnosis/testing. The diagnosis of SPG11 is established in a proband with characteristic clinical and MRI findings and biallelic pathogenic variants in SPG11 identified on molecular genetic testing. ### Management. Treatment of manifestations: Care by a multidisciplinary team; physiotherapy to stretch spastic muscles; antispastic drugs such as baclofen; botulin toxin and intrathecal baclofen for severe and disabling spasticity when oral drugs are ineffective. Urodynamic evaluation when bladder dysfunction is evident; anticholinergic drugs for urinary urgency. Treatment of psychiatric manifestations by standard protocols. Prevention of secondary complications: Treatment of sphincter disturbances to prevent urinary tract infection secondary to bladder dysfunction. Surveillance: Evaluation every six months to adjust physiotherapy and medications. ### Genetic counseling. SPG11 is inherited in an autosomal recessive manner. If each parent is known to be heterozygous for an SPG11 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for at-risk pregnancies are possible once the pathogenic variants in a family are known. ## Diagnosis ### Suggestive Findings Spastic paraplegia 11 (SPG11) should be suspected in individuals with the following clinical and imaging findings. Frequent clinical findings * Progressive spasticity and weakness of the lower limbs * Mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline with onset in the first to third decade * Axonal, motor, or sensorimotor peripheral neuropathy (>80% of individuals) [Stevanin et al 2008, Orlacchio et al 2010, Daoud et al 2012, Özoğuz et al 2015, Manole et al 2016, Montecchiani et al 2016] * Pseudobulbar involvement with dysarthria and/or dysphagia * Increased reflexes in the upper limbs Less frequent clinical findings * Cerebellar signs (ataxia or ocular signs including nystagmus and/or saccadic pursuit) * Retinal degeneration (Kjellin syndrome) * [Puech et al 2011] * Pes cavus * Scoliosis * Extrapyramidal signs such as parkinsonism [Anheim et al 2009, Faber et al 2018a] * Kjellin syndrome is characterized by retinal degeneration, autosomal recessive hereditary spastic paraplegia, and thin corpus callosum initially associated with spastic paraplegia 15 (SPG15) but more often occurring in individuals with SPG11. Imaging findings on brain and spinal cord MRI * Thinning of the corpus callosum (TCC) (>90% of individuals) [Stevanin et al 2008] particularly with long T1 and T2 values in the forceps minor of the corpus callosum, the so-called "ear of the lynx" sign which appears hyperintense on FLAIR and hypointense on T1-weighted images [Pascual et al 2019] * Cortical atrophy is frequently observed. * White matter hyperintensities [França et al 2012] * Only frontal and occipital periventricular hyperintensities may be seen initially. * Periventricular, confluent leukoencephalopathy often increases in severity with disease duration [Hehr et al 2007, Stevanin et al 2008]. * Atrophy of both the brain stem and the cerebellum can be observed [Stevanin et al 2007]. * The basal ganglia may also be affected [Faber et al 2018b]. Note: 60% of individuals with TCC, cognitive impairment, and spastic paraparesis were found to have biallelic SPG11 pathogenic variants [Stevanin et al 2008]. ### Establishing the Diagnosis The diagnosis of spastic paraplegia 11 (SPG11) is established in a proband by identification of biallelic pathogenic variants in SPG11 on molecular genetic testing (see Table 1). Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, exome array, genome sequencing) depending on the phenotype. Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of SPG11 is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with spastic paraplegia are more likely to be diagnosed using genomic testing (see Option 2). #### Option 1 When the phenotypic, imaging, and electrophysiology findings suggest the diagnosis of SPG11, molecular genetic testing approaches can include single-gene testing or use of a multigene panel: * Single-gene testing. Sequence analysis of SPG11 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications. Of note, 10%-20% of disease-associated variants are exon-sized or larger deletions and duplications [Günther et al 2016]. * A spastic paraplegia multigene panel that includes SPG11 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1). For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here. #### Option 2 When the phenotype is indistinguishable from many other inherited disorders characterized by spastic paraplegia, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible. 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 Spastic Paraplegia 11 View in own window Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method SPG11Sequence analysis 3~81% 4 Gene-targeted deletion/duplication analysis 5~19% 4 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. 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\. Günther et al [2016] 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 Onset of spastic paraplegia 11 (SPG11) occurs mainly during infancy or adolescence (age 1-31 years) and is characterized by gait disorders or less frequently by intellectual disability [Stevanin et al 2007, Stevanin et al 2008, Kara et al 2016]. Later onset (age 50-60 years) was reported in a few individuals [Rubegni et al 2015, Kawarai et al 2015]. Approximately ten years after onset, most affected individuals have the complete clinical picture of SPG11, including progressive lower-limb spasticity, atrophy of the corpus callosum with intellectual disability, and/or progressive cognitive decline. Thinning of the corpus callosum appears to correlate with disease severity [Kara et al 2016]. Most affected individuals become wheelchair bound one or two decades after disease onset [Stevanin et al 2008, Puech et al 2011]. Cognitive decline with low Mini Mental State Evaluation (MMSE) scores, found in the majority of affected individuals, worsens with time and includes severe short-term memory impairment, emotional lability, childish behavior, reduced verbal fluency, and attention deficit indicative of executive dysfunction [Hehr et al 2007, Stevanin et al 2008]. Psychiatric problems with behavioral disturbances are observed. Most individuals with SPG11 display little concern over the progression of their motor disease [Stevanin et al 2008]. All these findings correlate with the frontal atrophy detected on follow-up brain MRI. Intellectual disability, found in most individuals with early onset, is characterized by learning difficulties in childhood and low IQ. Eye findings can include the following: * Macular excavation or degeneration as reported in the Kjellin syndrome [Orlén et al 2009, Puech et al 2011] * Strabismus * Cerebellar ocular signs such as abnormal saccadic pursuit and nystagmus in individuals with the longest disease duration * Visual evoked potentials with increased latencies and decreased amplitudes [Stevanin et al 2008] Additional features are severe weakness, dysarthria, distal or generalized muscle wasting, and less frequently, pes cavus, scoliosis, parkinsonism, epilepsy, and orthostatic hypotension [Kara et al 2016]. Individuals with the longest disease duration may have swallowing difficulties [Stevanin et al 2008]. Electromyography (EMG) and nerve conduction velocities (NCVs) frequently show signs of axonal sensorimotor neuropathy particularly when disease duration exceeds ten years [Stevanin et al 2008]. Sural nerve biopsies have shown loss of unmyelinated nerve fibers and accumulation of pleomorphic membranous material in unmyelinated axons [Hehr et al 2007]. ### Genotype-Phenotype Correlations Missense and splice site variants are more often associated with later onset [Kawarai et al 2015, Rubegni et al 2015] and mild disease severity [Kara et al 2016]. ### Nomenclature SPG11 is one of several autosomal recessive disorders in which hereditary spastic paraplegia is associated with thin corpus callosum (HSP-TCC). Based on the EMG and NCV patterns and on anterior horn cell abnormalities seen in some affected individuals, several authors have characterized SPG11 as upper and lower motor neuron disease [Stevanin et al 2008], juvenile amyotrophic lateral sclerosis with long disease duration [Orlacchio et al 2010, Daoud et al 2012, Özoğuz et al 2015, Manole et al 2016], or Charcot-Marie-Tooth neuropathy [Montecchiani et al 2016]. ### Prevalence The estimated prevalence for HSP of all types ranges from 1:100,000 to 10:100,000 depending on the country. Since SPG11 was found to account for 19%-31% of autosomal recessive HSP [Stevanin et al 2008, Kara et al, 2016], a prevalence of 1.25:100,000 for SPG11 can be estimated. As expected in autosomal recessive disorders, most families with SPG11 originate from countries in which consanguinity is common, particularly the Mediterranean basin or the Middle East [Hehr et al 2007, Stevanin et al 2008, Boukhris et al 2009, Denora et al 2009, Özoğuz et al 2015, Kara et al 2016]. However, SPG11 has been reported in families worldwide [Hehr et al 2007, Stevanin et al 2007, Southgate et al 2010, Rajakulendran et al 2011, Özoğuz et al 2015, Kara et al 2016]. ## Differential Diagnosis See Hereditary Spastic Paraplegia Overview. The relative frequency of spastic paraplegia 11 (SPG11) varies according to phenotype and geographic origin. In Portugal, it accounts for 13% of all forms of spastic paraplegia regardless of the inheritance mode [Morais et al 2017]. SPG11 accounts for 5%-20% of autosomal recessive spastic paraplegias [Stevanin et al 2008] and up to 30%-50% of autosomal recessive complex spastic paraplegia [Kara et al 2016, Morais et al 2017]. This frequency increases up to 59%-70% [Stevanin et al 2008, Boukhris et al 2009, Denora et al 2009] when mental impairment and thinning of the corpus callosum are associated. SPG11 pathogenic variants can be found in a small proportion of individuals with a pure spastic paraplegia (<10%) but disease duration usually fewer than five years [Denora et al 2009]. There are other forms of spastic paraplegia associated with thinning of the corpus callosum and mental impairment and it is often difficult to distinguish them from SPG11 on clinical grounds (Table 2). ### Table 2. Other Hereditary Spastic Paraplegias Associated with Thin Corpus Callosum (HSP-TCC) and Mental Impairment of Interest in the Differential Diagnosis of Spastic Paraplegia 11 (SPG11) View in own window Gene(s)Disorder 1MOIClinical Features of Differential Diagnosis Disorder Overlapping w/SPG11Distinguishing from SPG11 AP4B1SPG47ARSeizures; white matter abnormalitiesSevere ID; facial dysmorphism; microcephaly; stereotypic laughter w/tongue protrusion AP4M1SPG50 AP4E1SPG51 AP4S1SPG52 DDHD2SPG54ARLeukodystrophySevere DD ERLIN2SPG18ARAlso assoc w/epilepsy; DDAgenesis of corpus callosum SPG21SPG21 (Mast syndrome)ARLate onset ataxia; adult-onset dementia & parkinsonism; polyneuropathyJapanese & Amish origin; akinetic mutism seen in advanced disease; psychiatric disease GBA2SPG46ARTCC; cerebellar &cerebral atrophy; DD; cerebellar signs; polyneuropathyCongenital cataract; male infertility (hypogonadism) TECPR2SPG49ARTCC reported occasionallyCentral apnea; severe DD; microcephaly; dysmorphic features; gastroesophageal reflux ZFYVE26SPG15ARDD; optic atrophy; ataxia; central retinal degeneration; polyneuropathyNo clinical features discriminate between SPG11 & SPG15. AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; HSP = hereditary spastic paraplegia; ID = intellectual disability; MOI = mode of inheritance; TCC = thin corpus callosum 1\. See Hereditary Spastic Paraplegia Overview Lower motor neuron degeneration may mimic amyotrophic lateral sclerosis (ALS) when wasting is marked [Stevanin et al 2008, Orlacchio et al 2010, Daoud et al 2012]. The continuum between spastic paraplegia and ALS has been evidenced by the finding of lesions common to ALS in the brain of individuals with SPG11 [Denora et al 2016]. ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with spastic paraplegia 11 (SPG11), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended: * Neuropsychological testing to assess the cognitive impairment and decline * Neuro-urologic examination for those with sphincter disturbance * Electrophysiologic investigations (e.g., ENMG, VEP, SEP) * Ocular investigations (e.g., funduscopic examination, OCT) * Consultation with a clinical geneticist and/or genetic counselor ### Treatment of Manifestations No specific drug treatment or cure exists for SPG11. Care by a multidisciplinary team that may include a general practitioner, neurologist, clinical geneticist, physiotherapist, physical therapist, social worker, and psychologist should be considered. Symptomatic treatment to reduce pyramidal hyperactivity in the lower limbs includes the following: * Physiotherapy for stretching of the spastic muscles to prevent contractures. Adapted dance or movements are also helpful to maintain strength (see www.clickanddance.com). * Antispastic drugs such as baclofen and tizanidine * Botulin toxin and intrathecal baclofen, which can be considered when oral drugs are ineffective and spasticity is severe and disabling When sphincter disturbances become a problem, urodynamic evaluation should be performed in order to adapt treatment and monitor follow up. Anticholinergic drugs are indicated for urinary urgency. Psychiatric manifestations should be treated in accordance with standard practice. ### Prevention of Secondary Complications Follow up of sphincter disturbances is important to prevent bladder dysfunction and infection. Early regular physiotherapy helps to prevent contractures. ### Surveillance Specialized outpatient clinic evaluations are suggested every six months to adjust medication and physical rehabilitation that will depend on disease severity. Annual brain MRI can be used to follow the atrophy of the corpus callosum, cerebellum, and brain stem, and to monitor increases in the size and intensity of white matter hyperintensities. Annual electrophysiologic investigations (e.g., ENMG, VEP, SEP) are recommended to follow the extent of the disease. Visual acuity should be assessed annually. ### 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 [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	Spastic Paraplegia 11	None	26,197	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK1210/	2021-01-18T20:55:55	{"synonyms": []}
A number sign (#) is used with this entry because of evidence that Zimmermann-Laband syndrome-2 (ZLS2) is caused by heterozygous mutation in the ATP6V1B2 gene (606939) gene on chromosome 8p21. For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). Clinical Features Abo-Dalo et al. (2008) studied a boy with Zimmerman-Laband syndrome (patient 6), who at birth was noted to have hypertrichosis and dysmorphic facies, with a broad nasal bridge, large fleshy nose, full lips, and synophrys. At 10 years of age, he had a coarse facial appearance with thick eyebrows and eyelashes, bulbous flat nose with bifid nasal tip, thick lips, and macroglossia. In addition, he exhibited total congenital anonychia, as well as aplasia of the distal phalanges of the second and fifth fingers of the left hand and the fifth finger of the right hand, and aplasia of the terminal phalanges of the second to fifth toes. Other features included axial and peripheral hypotonia, kyphosis, and valgus deformity of the feet. Kortum et al. (2015) restudied this patient (as patient 7) and reported the additional features of unilateral total deafness and global developmental delay with severe intellectual disability. Castori et al. (2013) reported a 5.5-year-old Italian girl who was born with generalized hypotonia, coarse face, enlarged alveolar ridges, hirsutism, and partial anonychia of the hands and feet. X-rays of the hands and feet at 2 months of age showed bilateral absence of the distal phalanx of the second, fourth, and fifth fingers, with absence or severe hypoplasia of the distal phalanx of the third fingers; tapering of the middle phalanx of the second through fifth fingers and distal phalanx of the thumbs; absence of the distal phalanx of the second through fifth toes and the middle phalanx of the fifth toe; and hypoplasia of the middle phalanx of the second through fourth toes and the distal phalanx of the great toe. Psychomotor development was delayed, and at age 5 the patient was found to have borderline cognitive delay with an IQ of 74. Hearing was intact. Examination at 5.5 years of age showed a widow's peak, thick and laterally flared eyebrows, long eyelashes, mildly upslanting palpebral fissures, prominent nasal septum with hypoplastic alae nasi and a vertical cutaneous-cartilaginous ridging on the nasal tip, prominent philtrum, and thick helices and lobules of the ears. She had gingival hypertrophy of the upper and lower alveoli with normally erupted deciduous teeth. Cartilage of the nose and ears was extremely soft to palpation. The patient had a short neck as well as complete anonychia of the hands and feet except for a small nail remnant on the right third finger. The second through fourth fingers and toes were shortened, whereas the thumbs appeared elongated, and finger pads were present. She also displayed mild hypotonia and generalized joint hypermobility. Molecular Genetics By whole-exome sequencing in the male patient with ZLS originally reported by Abo-Dalo et al. (2008) as patient 6 and the Italian girl with ZLS studied by Castori et al. (2013), Kortum et al. (2015) identified heterozygosity for the same de novo missense mutation in the ATP6V1B2 gene (R485P; 606939.0002) in both patients. The mutation was not found in the unaffected parents from either family, or in the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, or Exome Aggregation Consortium databases. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Head \- Widow's peak (in some patients) Face \- Prominent philtrum Ears \- Soft, thick helices and lobules \- Sensorineural deafness Eyes \- Thick eyebrows \- Synophrys \- Laterally flared eyebrows \- Thick, long eyelashes Nose \- Bulbous fleshy nose \- Soft nose cartilage \- Broad nasal bridge \- Bifid nasal tip \- Cutaneous-cartilaginous ridging on nasal tip \- Prominent nasal septum \- Hypoplastic nasal alae Mouth \- Full lips \- Gingival hyperplasia \- Macroglossia Neck \- Short neck SKELETAL Spine \- Kyphosis (in some patients) Limbs \- Generalized joint hypermobility (in some patients) Hands \- Variable aplasia or hypoplasia of distal phalanges \- Variable aplasia or hypoplasia of middle phalanges Feet \- Aplasia of distal phalanges, second through fifth toes \- Variable hypoplasia of middle phalanges, second through fifth toes \- Valgus deformity of the feet (rare) SKIN, NAILS, & HAIR Skin \- Prominent fingerpads (rare) Nails \- Hyponychia/anonychia, congenital Hair \- Hypertrichosis (hirsutism) NEUROLOGIC Central Nervous System \- Hypotonia, generalized (in some patients) \- Mental retardation (in some patients) MOLECULAR BASIS \- Caused by mutation in ATPase, H+ transporting, lysosomal, 56/58-kd, V1 subunit B, isoform-2 gene (ATP6V1B2, 606939.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	ZIMMERMANN-LABAND SYNDROME 2	c0796013	26,198	omim	https://www.omim.org/entry/616455	2019-09-22T15:48:51	{"mesh": ["C536725"], "omim": ["616455"], "orphanet": ["3473"]}
A number sign (#) is used with this entry because of evidence that this disorder is a contiguous gene deletion syndrome (Chr19:12.79-13.10 Mb, NCBI36). Clinical Features ### Deletion Patients Dolan et al. (2010) identified 4 patients with a deletion within 19p13.13. Patients were first seen at ages ranging from 0.5 years to 2 years. At time of first exam all had macrocephaly with an occipitofrontal head circumference (OFC) greater than the 95th percentile, with 3 of the 4 at the 98th percentile or higher. Facial features included frontal bossing and downslanting palpebral fissures in 2. All had strabismus. Two had nystagmus and 3 had optic nerve hypoplasia or atrophy. Three of the 4 had gastrointestinal complaints, including diarrhea, poor feeding, abdominal pain, and vomiting. One had a normal brain MRI; 1 had a Chiari I malformation with syrinx; 1 had mild atrophy of the frontal lobes; and 1 had absent rostral corpus callosum with cystic lesion. Two of 4 had seizures; 3 of 4 had hypotonia; all had moderate to severe mental retardation with moderate to significant speech delay. Ages at most recent exam ranged from 3 years to 14.5 years. All still had macrocephaly at that time, but only the youngest, at 3 years of age, still had persistent linear overgrowth. Dolan et al. (2010) compared their 4 deletion patients with 4 others reported by Lysy et al. (2009), Auvin et al. (2009), Jensen et al. (2009), and Engels et al. (2007). In these 4 reports, the deletion ranged from 0.6 Mb to 2.9 Mb. Two of the 4 had microcephaly and 1 had macrocephaly. Two were reported to have had strabismus. One child had constipation. Two of the 4 had normal brain imaging studies; 1 had moderate ventriculomegaly; and 1 had mild hypoplasia of the corpus callosum and cerebellar vermis. Seizures were reported in 1 of the 4. Three of the 4 had hypotonia. All had moderate mental retardation. At the most recent examination, 1 patient had microcephaly (Engels et al., 2007), 1 had macrocephaly, and 1 had normal head circumference. Dolan et al. (2010) concluded that the clinical findings in patients with a deletion in 19p13.13 are notable for a constellation of 3 recurring abnormalities. The first is overgrowth. Patients 1 to 4 and those of Auvin et al. (2009) were macrocephalic with frontal bossing; height and weight were concordant with the craniofacial size because these patients were large for age. Dolan et al. (2010) noted that patients 2 and 3 in their study and the patient of Auvin et al. (2009) had undergone NSD1 (606681) testing to rule out Sotos syndrome (117550), which was negative. The second clinical manifestation includes ophthalmologic abnormalities such as strabismus and optic nerve atrophy or hypoplasia. Dolan et al. (2010) suggested that all patients identified with 19p13.13 microdeletions should have formal brain MRI to fully evaluate the optic nerves. The third recurring clinical manifestation is gastrointestinal symptomatology, particularly abdominal pain and vomiting. ### Duplication Patients Dolan et al. (2010) described 1 patient with a microduplication in 19p13.13. This patient was born at 36 weeks' gestation and presented at 2 months of age with feeding problems, constipation, frequent vomiting, and marked irritability. At 14 months his weight, length, and OFC were all below the 5th percentile. Other clinical findings included sloping forehead, narrow alae nasi, inverted nipples, and an unusual fat distribution over the buttocks. He had a seizure disorder, with 4 to 5 seizures daily originating in a left frontotemporal focus. Ophthalmologic examination showed horizontal nystagmus. By 3 years of age his head circumference remained below the 5th percentile, and developmental delay was noted. Neuropsychologic testing at 4.5 years showed an age equivalent of 21 to 29 months with hyperactivity, sleep disruption, and obsessional and self-injurious behaviors. The patient's father had nystagmus and reported learning difficulties. Dolan et al. (2010) remarked on the striking difference in head circumference between patients with a 19p13.13 deletion, who were macrocephalic, and their patient with a duplication, who was microcephalic; this was also true for the duplication reported by Stratton et al. (1995). Some clinical findings (ocular findings, gastrointestinal symptoms, seizures) were present among the 19p cases regardless of deletion or duplication status. Cytogenetics ### Deletion Among the 4 deletion patients identified by Dolan et al. (2010), the smallest region of overlap (SRO) encompassed approximately 311 kb (maximum 340 kb) within 19p13.13 (12,793,474 to 13,104,643, NCBI36). This SRO encompasses 16 genes involved in diverse processes including transcription, DNA repair, and hematopoiesis; candidate genes include MAST1 (612256), NFIX (164005), and CALR (109091). The patients of Auvin et al. (2009) (740 kb) and Lysy et al. (2009) (3 Mb) had deletions that encompass the SRO delineated by Dolan et al. (2010). Dolan et al. (2010) noted that the patients of their study and the patient reported by Auvin et al. (2009) showed consistent phenotypic correlations, while the patient of Lysy et al. (2009) diverged significantly in phenotype; the deletion in this latter patient extended almost 3 Mb telomeric to those in the report of Dolan et al. (2010), and was almost 3 times larger than the largest deletion and 10 times larger than the critical region. ### Duplication The duplication in the patient described by Dolan et al. (2010) was of approximately 1.9 Mb within chromosome 19p13.2-p13.12 (minimum breakpoints 12,601,112 to 14,488,238, NCBI36). Inheritance Other reported cases with 19p13.13 deletions all occurred as de novo events (Dolan et al., 2010). [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports *[transl.]: translation	CHROMOSOME 19p13.13 DELETION SYNDROME	c3150894	26,199	omim	https://www.omim.org/entry/613638	2019-09-22T15:58:04	{"doid": ["0060426"], "omim": ["613638"], "orphanet": ["357001", "447980"], "synonyms": ["Monosomy 19p13.13", "Dup(19)(p13.13)", "Del(19)(p13.13)"]}

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