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D-Glycerate Dehydrogenase Deficiency
Wikipedia
Rare autosomal recessive human diseases D-glycerate dehydrogenase deficiency Other names 3-phosphoglycerate dehydrogenase Condition is acquired via an autosomal recessive pattern Specialty Metabolism Symptoms Congenital microcephaly, psychomotor retardation and seizures in infants, moderate developmental delay and behavioral disorders juveniles. [1] Usual onset Adolescent, Infancy, Childhood Causes Genetic Prevention N/A Treatment Diet Medication Serine Prognosis Shortened life expectancy Frequency <1 / 1 000 000 D-glycerate dehydrogenase deficiency or PHGDH is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine .This disorder is called Neu-Laxova syndrome in neonates. Contents 1 Symptoms and signs 2 Cause 3 Mechanism 4 Diagnosis 5 Treatment 6 References 7 External links Symptoms and signs [ edit ] In addition significantly shortening lifespan, PHGDH deficiencies are known to cause congenital microcephaly , psychomotor retardation , and seizures in both humans and rats, presumably due to the essential signaling within the nervous system that serine, glycine, and other downstream molecules are intimately involved with. [ citation needed ] Cause [ edit ] Homozygous or compound heterozygous mutations in 3- phosphoglycerate dehydrogenase (PHGDH) cause Neu-Laxova syndrome [2] [3] and phosphoglycerate dehydrogenase deficiency. [4] Mechanism [ edit ] 3-Phosphoglycerate dehydrogenase catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the committed step in the phosphorylated pathway of L-serine biosynthesis. ... Retrieved 1 December 2019 . ^ Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS (Jun 2014). "Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH" . ... PMID 24836451 . ^ Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M (Sep 2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway" .
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Aortic Aneurysm, Familial Thoracic 10
Omim
In addition, 2 unrelated probands who underwent thoracic aortic aneurysm repair at ages 11 years and 16 years, respectively, also exhibited features of Marfan syndrome (MFS; 154700), including high-arched palate, pectus excavatum, dolichostenomelia, scoliosis, joint hypermobility, and skin striae. Some family members of the latter proband also exhibited marfanoid features, including dural ectasia, pectus deformity, joint hypermobility, and skin striae; however, Guo et al. (2016) stated that the features were not sufficient to meet diagnostic criteria for Marfan syndrome in either family. Histologic examination of aortic tissue from 2 unrelated patients showed mild medial degeneration characterized by focal loss of elastin fibers and smooth muscle cells, but limited deposition of proteoglycans. ... He was 6 feet 8 inches tall and exhibited features of Marfan syndrome, including pectus excavatum, scoliosis, positive thumb sign, high-arched palate, dental crowding, and skin striae. ... In 2 first cousins with thoracic aortic aneurysm and dissection or rupture, one of whom exhibited features of Marfan syndrome but was negative for mutation in the FBN1 (134797), TGFBR1 (190181), and TGFBR2 (190182) genes, Lee et al. (2016) performed whole-genome sequencing and identified heterozygosity for a missense mutation in the LOX gene (M298R; 153455.0005).
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X-Linked Reticulate Pigmentary Disorder
Wikipedia
Rare X-linked genetic condition X-linked reticulate pigmentary disorder Other names Familial cutaneous amyloidosis, [1] Partington amyloidosis, [1] Partington cutaneous amyloidosis, [1] Partington syndrome type II, [1] reticulate pigmentary disorder, [1] X-linked reticulate pigmentary disorder with systemic manifestations [1] This condition is inherited in an X-linked recessive manner. ... Females usually only have linear streaks of hyperpigmentation. [1] The syndrome is also referred to by the acronym X-Linked-PDR or XLPRD . [2] It's a very rare disease, genetically determined, with a chronic course. ... Under XLPDR conditions, autoimmune manifestations are developed due to chronically activated anti-viral type I interferon response, connecting XLPDR with disorders like Aicardi-Goutiere syndrome, Systemic Lupus Erythematosus, Psoriasis, etc. 3 Meanwhile, another typical symptom - immunodeficiency - can be developed due to discovering a functional defect in the cytolytic activity of NK cells. ... You can help by adding to it . ( April 2017 ) See also [ edit ] Waardenburg syndrome List of cutaneous conditions References [ edit ] ^ a b c d e f g Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).POLA1, VEGFA, PDR, IL6, TNF, EPO, MMP9, CXCL8, POSTN, FGF2, IFNG, CCL2, CCN1, HMGB1, ACE, REN, EDN1, GDNF, FGFR1, KDR, GFAP, FN1, VWF, TNFRSF11B, ANGPTL8, HEMGN, NOS3, NFKB1, HP, PGF, TIMP3, MMP2, MIR126, MIR423, AGT, ALB, ANPEP, IL17A, LGALS1, STK38, NLRP3, BDNF, IL10, LOX, TGFB1, TNC, CD163, TNFSF11, APLN, TNFRSF11A, AOC3, KHSRP, ADIPOQ, ACHE, PPM1D, PLA2G7, SOD2, SORD, SP1, SPARC, SPP1, SST, SYT1, TCF3, TCF7L2, TRD, TGFB2, THBS1, TIMP1, TIMP2, TMSB4X, TNFSF15, NELFE, TNFRSF1B, ANGPTL3, ATP6AP2, MALAT1, MFRP, C1QTNF5, SNAP47, LRG1, PIWIL4, TMEM217, IL27, LAMA1, MALRD1, C1QTNF12, FST, MIR122, MIR146A, MIR15A, MIR17, MIR203A, MIR21, MIR23A, MIR320A, MIR20B, VASH2, WNK1, GORASP1, VSIR, HYOU1, HPSE, PSIP1, MMRN1, SIRT1, SIGLEC7, SRSF5, CD274, NOX4, ANGPTL4, LEF1, TNFRSF12A, IL17D, ROBO4, BCOR, IL26, MYDGF, RETN, PLXDC1, SRSF6, PON2, SRSF1, GH1, DPEP1, ENO2, ERBB3, F10, FLT1, FPR2, GFRA1, GFRA2, CXCL1, CUX1, HCLS1, HGF, NRG1, HMOX1, HSPA5, HSPG2, ICAM1, IGF1, CFD, CTSH, IL1B, ATP1A3, ADRB3, AGER, ANGPT2, ANXA5, APOA2, APOE, ARSF, ATF4, BSG, CTNNB1, CAPN5, C9, CASP1, RUNX1, CNTF, CP, ATF2, CCN2, IGFBP3, IL2RB, SELP, PSMD4, PECAM1, PLAT, PLXNA2, PML, ADM, PPARG, MAPK3, PRPH, PTN, SERPINE1, PTPRC, RBP3, RELA, S100A9, S100B, CCL3, CCL15, CCL21, PCSK2, PEBP1, IL4, ITIH2, CXCR2, IL11, IL11RA, IL13, IL18, CXCL10, ITGA5, ITGAV, KRT1, NUCB2, LEP, LTA, MEFV, MIF, MMP8, MMP14, CD200, NGF, HOTAIR
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Jordans' Anomaly
Wikipedia
Persistent vacuolation of white blood cells Jordans' anomaly Other names Jordan anomaly, Jordans bodies Jordans' anomaly in Chanarin-Dorfman syndrome Specialty Hematology Symptoms Persistent vacuolation of white blood cells Diagnostic method Blood smear examination Jordans' anomaly (also known as Jordan anomaly and Jordans bodies ) is a familial abnormality of white blood cell morphology . ... Jordans' anomaly is associated with neutral lipid storage diseases . [1] [2] [3] Contents 1 Genetics 2 Composition 3 History 4 References Genetics [ edit ] Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases. [2] [4] The anomaly is associated with mutations in the PNPLA2 gene, which produces the enzyme adipose triglyceride lipase (ATGL), and the ABHD5 gene, which encodes a cofactor of ATGL. ... Using special staining , Jordans demonstrated that the vacuoles contained lipids . [1] [6] In 1966, two further cases of persistent lipid vacuoles were reported in sisters presenting with ichthyosis . [7] The Chanarin-Dorfman syndrome , comprising Jordans' anomaly, ichthyosis and lipid storage abnormalities, was defined in the 1970s, definitively connecting Jordans' anomaly to lipid storage disease. [8] [4] Jordans' anomaly was linked to genetic mutations affecting triglyceride metabolism in 2006. [5] References [ edit ] ^ a b John P. ... "Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene" .
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Hemopneumothorax
Wikipedia
External links [ edit ] Classification D ICD - 10 : J94.2 , S27.2 ICD - 9-CM : 511.8 , 860 MeSH : D006468 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Chest injury , excluding fractures Cardiac and circulatory system injuries vascular : Traumatic aortic rupture Thoracic aorta injury heart : Myocardial contusion / Commotio cordis Cardiac tamponade Hemopericardium Myocardial rupture Lung and lower respiratory tract injuries Pneumothorax Hemothorax Hemopneumothorax Pulmonary contusion Pulmonary laceration Tracheobronchial injury Diaphragmatic rupture
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Pustulosis Palmaris Et Plantaris
Wikipedia
Pustulosis palmaris et plantaris Other names Pustulosis of palms and soles, [1] Palmoplantar pustulosis , Persistent palmoplantar pustulosis , Pustular psoriasis of the Barber type , and Pustular psoriasis of the extremities Pustulosis palmaris et plantaris Specialty Dermatology Differential diagnosis SAPHO syndrome Pustulosis palmaris et plantaris is a chronic recurrent pustular dermatosis (that is, a pustulosis or pustular psoriasis ) localized on the palms and soles only, characterized histologically by intraepidermal pustules filled with neutrophils . [2] : 411,628 [3] : 204 It can occur as part of the SAPHO syndrome . [4] Contents 1 Treatment 2 See also 3 References 4 External links Treatment [ edit ] Systematic reviews show evidence to support the use of systemic retinoids alone and in combination with photochemotherapy to improve symptoms of chronic palmoplantar pustulosis, with a combination more effective than one alone. ... ISBN 0-7216-2921-0 . . ^ Matzaroglou C, Velissaris D, Karageorgos A, Marangos M, Panagiotopoulos E, Karanikolas M (November 2009). "SAPHO Syndrome Diagnosis and Treatment: Report of Five Cases and Review of the Literature" . ... External links [ edit ] Classification D ICD - 10 : L40.3 DiseasesDB : 33339 v t e Papulosquamous disorders Psoriasis Pustular Generalized pustular psoriasis ( Impetigo herpetiformis ) Acropustulosis / Pustulosis palmaris et plantaris ( Pustular bacterid ) Annular pustular psoriasis Localized pustular psoriasis Other Guttate psoriasis Psoriatic arthritis Psoriatic erythroderma Drug-induced psoriasis Inverse psoriasis Napkin psoriasis Seborrheic-like psoriasis Parapsoriasis Pityriasis lichenoides ( Pityriasis lichenoides et varioliformis acuta , Pityriasis lichenoides chronica ) Lymphomatoid papulosis Small plaque parapsoriasis ( Digitate dermatosis , Xanthoerythrodermia perstans ) Large plaque parapsoriasis ( Retiform parapsoriasis ) Other pityriasis Pityriasis rosea Pityriasis rubra pilaris Pityriasis rotunda Pityriasis amiantacea Other lichenoid Lichen planus configuration Annular Linear morphology Hypertrophic Atrophic Bullous Ulcerative Actinic Pigmented site Mucosal Nails Peno-ginival Vulvovaginal overlap synromes with lichen sclerosus with lupus erythematosis other: Hepatitis-associated lichen planus Lichen planus pemphigoides Other Lichen nitidus Lichen striatus Lichen ruber moniliformis Gianotti–Crosti syndrome Erythema dyschromicum perstans Idiopathic eruptive macular pigmentation Keratosis lichenoides chronica Kraurosis vulvae Lichen sclerosus Lichenoid dermatitis Lichenoid reaction of graft-versus-host disease Authority control NDL : 01125103 This cutaneous condition article is a stub .IL36RN, AP1S3, TNF, APOE, IL6, CARD14, HLA-C, IL23A, CRP, PTTG1, TNIP1, ERAP1, TRAF3IP2, VNN1, DDX58, VNN2, VEGFA, TYK2, CYP2S1, CARM1, RNF114, FBXL19, VNN3, IFIH1, CSMD1, LCE3D, ZC3H12C, TAGAP, ZNF816, IL23R, IFNLR1, HCAR2, LCE3B, TNFAIP3, TP53, TGFA, NFKBIA, CAT, RUNX3, CP, CSF2, GJB2, IL1B, IL4, IL12B, IL13, STAT3, MKI67, LCE3C, PPARG, SOD2, NOS2, S100A7, PCNA, SERPINB8, REN, REL, CAMP, IL17A, HLA-A, CFB, TYMS, CSF3, FGFR3, IL17RA, IL1RN, IL24, ATG16L1, LCN2, LTA, IL20, IL19, SMAD7, IL22
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Aural Atresia, Congenital
Omim
None of the affected individuals in either family exhibited dysmorphic features or any other features associated with the 18q deletion syndrome. After finding that mice with conditional deletion of the Tshz1 gene showed hypoplasia of the olfactory bulb and had severe olfactory deficits, Ragancokova et al. (2014) performed olfactory testing in the families with TSHZ1 point mutations reported by Feenstra et al. (2011). ... Cytogenetics Congenital aural atresia has been reported frequently in patients with chromosomal anomalies, especially terminal deletions starting at chromosome 18q23 (see chromosome 18q deletion syndrome, 601808). Veltman et al. (2003) stated that CAA occurs in approximately 66% of all patients who have a terminal deletion of 18q. ... Molecular Genetics Feenstra et al. (2011) performed SNP-array analysis in affected individuals with syndromic congenital aural atresia from 2 families with 18q22.3-q23 microdeletions and found a 459-kb deletion overlap, a region containing a single known gene, TSHZ1. ... The mutation-positive individuals had no facial dysmorphism or other features associated with 18q deletion syndrome (see 601808). Whole-gene deletion in the remaining 7 patients was excluded by whole-genome array analysis, and screening of the TSHZ1 gene in a cohort of 24 individuals with a unilateral form of CAA type I, IIB, or III, 10 of whom also had mild to severe developmental malformation of the external ears (microtia or anotia), revealed no mutations, suggesting genetic heterogeneity.TSHZ1, FOXI3, APOE, APP, CST3, CLU, MME, GSN, TTR, SUCLA2, BACE1, TGFB1, TWIST1, ITM2B, PRNP, PSEN1, ALB, ACTB, CGA, LAMC2, CSF2, IL6, NOTCH3, KCNJ13, APCS, TNF, PRRC2A, SLC30A3, TUBA3C, PEAR1, CLDN5, TIFAB, TIMP3, SPP1, SNCA, SLC1A2, ROM1, PVR, PTPRC, BAG6, SRPX, ABHD16A, UTS2, CMAS, DYM, P2RY12, TRAPPC12, DELEC1, HSPB8, ECRG4, ADAMTS13, NEBL, XPNPEP3, TOMM40, IL33, HDAC9, GRIN3A, HFM, NCOA1, AOC3, BHLHE40, A2M, OLR1, PPARA, COL6A2, GH1, FOS, FN1, FBN2, PTK2B, F13A1, F2, DLG4, ACE, COL4A2, HLA-E, CD68, DDR1, BCHE, APOA1, AOC2, ALOX5, AIF1, AGT, AGER, HLA-B, IDE, PON1, MBP, PLG, PLCB4, PECAM1, PDE3A, PCYT1A, SERPINA3, NRAS, CYTB, MMP9, MAPT, IL1B, SMAD3, SMAD2, LRP5, LRP1, KNG1, ITPR3, ITGAX, ITGAM, IL10, CERNA3
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Polymicrogyria
Wikipedia
A summary of clinical manifestations of each syndrome can be found below, in the section labelled " Clinical presentation ". ... Bilateral frontoparietal polymicrogyria (BFPP) [ edit ] Main article: Bilateral frontoparietal polymicrogyria BFPP was one of the first discovered forms of polymicrogyria to have a gene identified linking to the syndromes caused. This gene is called GPR56 . ... This differentiates BFPP from the other bilatieral polymicrogyria syndromes. Bilateral perisylvian polymicrogyria (BPP) [ edit ] BPP is similar to the other types of polymicrogyria in that it is usually symmetrical, but BPP can vary among patients. ... Most commonly, PMG is associated with Aicardi and Warburg micro syndromes. [9] These syndromes both have frontoparieto polymicrogyria as their anomalies. ... "Genetics of the polymicrogyria syndromes" . Journal of Medical Genetics . 42 (5): 369–378. doi : 10.1136/jmg.2004.023952 .ADGRG1, MN1, TUBA1A, OCLN, TUBB2B, RTTN, FKTN, COL4A1, PIK3CA, FIG4, PIK3R2, INPP5E, COL18A1, TUBA8, AHI1, LAMC3, MTOR, KIFBP, AKT3, WDR62, PI4KA, PAX6, GPSM2, GMPPB, CRBN, POMT2, PSAT1, SLC45A1, NSDHL, DISC1, RSRC1, CC2D1A, NSUN2, DCPS, RAB3GAP2, B9D1, USP18, WARS2, TUBB3, PIBF1, POMT1, KDM5B, B4GAT1, POLR3A, MAN1B1, RAB18, PHGDH, TNIK, KIAA0556, RPGRIP1L, WASHC4, ATP6V0A2, FRRS1L, LINS1, C2CD3, MKS1, ACTB, POMGNT1, BORCS5, LMAN2L, MED25, TRAPPC9, POMK, POMGNT2, TMEM67, CEP41, TP53RK, METTL23, PEX26, B3GALNT2, CEP120, TMTC3, BMPER, IBA57, ARL13B, HYLS1, CRPPA, KLHL15, ARMC9, EDC3, PGAP1, CCDC88A, ERMARD, FMN2, C12orf4, TBC1D24, ARHGAP31, TMEM237, CPLANE1, MBOAT7, FKRP, TCTN1, SRD5A3, FBXO31, EHMT1, CSPP1, TCTN2, ZC3H14, RXYLT1, KATNB1, ACTG1, PEX10, NDST1, KIF5C, MECP2, NPHP1, PDHA1, PEX1, PEX6, PEX12, RAC1, PEX13, PEX14, PIGC, SF3B4, PTEN, PEX19, PEX2, HSD17B4, HNMT, GRIK2, GNB1, ARL3, ATP1A2, ATP6V1A, ATP6V1E1, CCND2, COL3A1, CPT2, DAG1, DDX3X, DHCR24, DYNC1H1, ATN1, EML1, ERCC1, FH, PEX5, SCN1A-AS1, CLIP1, ZNHIT3, EOMES, SARS1, PEX3, CRADD, PEX11B, LARGE1, AIMP1, SNAP29, LAGE3, RECQL4, PEX16, MED23, TECR, CEP104, KIAA0586, GPHN, TRRAP, PRSS12, TUSC3, WT1, SCN1A, SCN3A, EZR, ST3GAL3, SON, TUFM, SRPX2, AKT1, PIK3CG, PIK3CD, PIK3CB, GRIN1, NEDD4L, PLAUR, MAP1B, LAMA2, TUBA1B, NHEJ1, TUBB4A, TUBB, SEPTIN5, PMP22, ARX, ADAMTS4, CTSB, IGF1, PRICKLE1, POLR3B, HTC2, ITSN1, SHC2, MPL, GFM1, DOCK6, FGD1, TH, FLNA, ENG
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Progressive Multifocal Leukoencephalopathy
Wikipedia
PML occurs almost exclusively in patients with severe immune deficiency , most commonly among patients with acquired immune deficiency syndrome (AIDS), but people on chronic immunosuppressive medications including chemotherapy are also at increased risk of PML, such as patients with transplants, Hodgkin's lymphoma , multiple sclerosis , psoriasis , and other autoimmune diseases. ... The most prominent symptoms are "clumsiness, progressive weakness, and visual, speech, and sometimes personality changes". [1] The lesions affecting the parietal and occipital lobes of the brain can lead to a phenomenon known as alien hand syndrome . [2] Cause [ edit ] JC virus infection [ edit ] The cause of PML is a type of polyomavirus called the JC virus (JCV), after the initials of the person from whose tissue the virus was first successfully cultured. ... Retrieved 11 September 2020 . ^ Panikkath, Ragesh; Panikkath, Deepa; Mojumder, Deb; Nugent, Kenneth (2014). "The alien hand syndrome" . Proceedings (Baylor University. ... "Progressive multifocal leukoencephalopathy in acquired immunodeficiency syndrome: explaining the high incidence and disproportionate frequency of the illness relative to other immunosuppressive conditions". ... Journal of Acquired Immune Deficiency Syndromes . 37 (2): 1263–1268. doi : 10.1097/01.qai.0000136093.47316.f3 .TP53, RARA, PML, MXD1, MAD1L1, SP100, TNF, SUMO1, BRCA1, CSF2, LAMC2, MS, DAXX, SNIP1, ZBTB16, SUMO2, PRAM1, UBA7, IFNG, ITGAL, NCOR1, GAD1, MTOR, PDCD1, PSMD4, PAX5, ELANE, NPM1, MDM2, NCOA3, GCN1, HDAC1, SRSF1, TAT, SPIB, RUNX1, CASP8, ARSF, CASP3, BCL2, PDIK1L, ATRX, CCR5, CCL2, XRCC6P5, BCR, TERF1, TERT, PRPF8, USP7, MXD4, UBA1, AHSA1, ATG7, KHDRBS1, DCTN6, HIRA, WDR4, TNFRSF1A, PPARGC1A, ZNRD2, HDAC9, KAT5, MKNK1, AIMP2, ZMYM2, KAT6A, CCDC6, XRCC1, XPO1, IKBKG, SOCS1, CTDSPL, VEGFA, TNFSF10, SQSTM1, XPR1, GRAP2, TBPL1, ISG15, TMED2, RNF19A, RAB40B, NPB, GORASP1, WNK1, MUL1, HMBOX1, MAGT1, TCHP, UCN3, SCLT1, TRIM69, NRSN1, CBLL2, NSMCE2, CTDSP1, TICAM2, MIR126, BCRP1, BCRP3, MIR629, TRAP, DEFB4B, H3C9P, TMED7-TICAM2, TST1, H3P23, SCPEP1, SLC50A1, TPPP, HIPK2, CHP1, SMC5, SUZ12, PADI4, NUP62, TGFB1, POLDIP2, SENP3, DISC1, HPGDS, SGSM3, BLNK, NLRP2, SENP1, SYCP3, TMED7, DCTN4, NT5C3A, NCKIPSD, GINS2, KRT20, DDIT4, TET2, AHI1, THBD, ABL1, TFPI, FOXO3, CTLA4, CTSG, DEFB4A, DNMT1, EGF, EGR1, EIF4E, ELK4, ESR2, PTK2B, FYB1, MAPK14, GFAP, CXCL1, GTF2H1, HBB, HIF1A, HLA-A, HLA-DRB1, HTR2A, IRF8, IFI16, CSF3, CRK, TERF2, CASP9, JAG1, AKT1, ANXA2, APBB1, APP, FAS, AQP9, ATR, CCND1, CAMP, CAT, COL11A2, RUNX1T1, CD6, CD9, CD14, MS4A1, CDK4, CDK6, CEBPB, CEBPE, CISH, IFI27, IFNB1, IGHMBP2, RXRA, PSMB8, PSMD9, PTPRH, RAD21, RAD51, RAG1, RARB, RELA, RNF4, RNPEP, SCP2, IL1B, CXCL5, PARP1, SMARCA1, SUMO3, SOAT1, STAT1, STAT3, SYCP1, SYT1, TRBV20OR9-2, PSAP, PRNP, MAPK1, PRKCD, IL7, CXCL8, CXCL10, LMNB1, MBP, MMP9, MNAT1, MYB, NBN, NEFL, NFATC1, ORC5, SERPINB2, PRKN, PCNA, PIN1, PLAU, PLAUR, PLG, POU2AF1, PPARG, H3P19
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Orthostatic Hypotension
Wikipedia
It is also associated with Ehlers–Danlos syndrome and anorexia nervosa . It is also present in many patients with Parkinson's disease or Lewy body dementia resulting from sympathetic denervation of the heart or as a side-effect of dopaminomimetic therapy. ... A significant increase in heart rate from supine to standing may indicate a compensatory effort by the heart to maintain cardiac output. A related syndrome, postural orthostatic tachycardia syndrome (POTS), is diagnosed when there is at least a 30 bpm increase in heart rate with little or no change on blood pressure. ... This reduces the return of fluid from the limbs to the kidneys at night, thereby reducing nighttime urine production and maintaining fluid in the circulation. [21] Various measures can be used to improve the return of blood to the heart: the wearing of compression stockings and exercises ("physical counterpressure manoeuvres" or PCMs) that can be undertaken just before standing up (e.g., leg crossing and squatting). [21] Medications [ edit ] The medication midodrine can benefit people with orthostatic hypotension, [21] [23] The main side-effect is piloerection ("goose bumps"). [23] Fludrocortisone is also used, although based on more limited evidence. [21] A number of other measures have slight evidence to support their use indomethacin , fluoxetine , dopamine antagonists , metoclopramide , domperidone , monoamine oxidase inhibitors with tyramine (can produce severe hypertension ), oxilofrine , potassium chloride , and yohimbine . [24] Prognosis [ edit ] Orthostatic hypotension may cause accidental falls . [25] It is also linked to an increased risk of cardiovascular disease, heart failure, and stroke. [26] There is also observational data suggesting that orthostatic hypotension in middle age increases the risk of eventual dementia and reduced cognitive function . [27] See also [ edit ] Orthostatic intolerance Orthostatic hypertension Postural orthostatic tachycardia syndrome Vasovagal response References [ edit ] ^ Arnold, Amy C.; Raj, Satish R. ... Merck Manual . ^ Idiopathic Orthostatic Hypotension and other Autonomic Failure Syndromes at eMedicine ^ "Measurement of lying and standing blood pressure: A brief guide for clinical staff" . ... External links [ edit ] Classification D ICD - 10 : I95.1 ICD - 9-CM : 458.0 MeSH : D007024 DiseasesDB : 10470 Orthostatic hypotension at Curlie v t e Diseases of the autonomic nervous system General Dysautonomia Autonomic dysreflexia Autonomic neuropathy Pure autonomic failure Hereditary Hereditary sensory and autonomic neuropathy Familial dysautonomia Congenital insensitivity to pain with anhidrosis Orthostatic intolerance Orthostatic hypotension Postural orthostatic tachycardia syndrome Other Horner's syndrome Multiple system atrophy v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotensionABCB1, OPRM1, OPRD1, CYB561, SNCA, DBH, IL12A, HEXB, COQ2, IL12RB1, IRF5, TNFSF15, TNPO3, MMEL1, POU2AF1, ELP1, AAAS, CHCHD2, SPIB, ATP7A, CYP11B2, CAV1, JAG1, SELENBP1, SHBG, CCHCR1, ACE, TTR, AGT, REN, NEDD4L, ADRB2, ARHGEF5, PWAR1, IS1, YWHAE, TP63, ASXL1, ACE2, NR1I2, TIMELESS, TET2, DOCK11, DKK1, SF3B1, LRRK2, HAVCR1, PRRT2, PPP1R14A, SLC52A2, ADRB1, PRKCA, TPO, SOD2, AGTR1, ALB, AR, CASP8, CRP, CYP17A1, EBF1, MARK2, F2R, FAP, GNAS, GNB3, CXCL1, IL1B, MMP7, NOS1, NPPA, NPPB, NPR3, OLR1, PAFAH1B1, PRKN, PGF, PRKCB, PRL, CCL2, SLC6A3, MCIDAS
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Mild Cognitive Impairment
Wikipedia
External links [ edit ] Classification D ICD - 10 : F06.7 ICD - 9-CM : 331.83 MeSH : D060825 SNOMED CT : 386805003 External resources Patient UK : Mild cognitive impairment 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 Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosisAPP, CLU, PICALM, CACNA1C, SORL1, BIN1, NECTIN2, CR1, TAFA2, SNCA, PSEN1, APOE, MAPT, PRNP, TOMM40, EEF1A2, ACTB, SYNJ1, CSF1R, CACNA1A, TBK1, HTRA1, MECP2, C19orf12, ARSA, SCN1A, VPS13C, CSTB, NAGLU, SPG11, PLA2G6, SQSTM1, SLC1A2, TBP, KCNB1, LAMC2, IRF2BPL, FGF12, ARV1, CYFIP2, TBC1D24, BSCL2, NECAP1, PARS2, TRNK, KCNA2, GABRB2, GABRA4, GNAS, PDE11A, IL6, GABRB3, GABRG2, MYORG, ACTL6B, PRDM8, WWOX, ADA2, DARS2, GDAP2, TRNT, GRIN2D, TRAK1, NDUFAF3, NBN, ATXN7, SCN3A, SCN8A, SCN9A, SLC6A1, SLC20A2, SCO2, STXBP1, AP5Z1, SURF1, TEK, TTPA, UBTF, XPA, YWHAG, AP3B2, SGPL1, RPS6KA3, CPLX1, PDE10A, PDGFRB, NDUFB8, NDUFS2, NRAS, NTRK2, SZT2, CUX2, PDGFB, ERCC2, PSAP, CNKSR2, POLG, TREX1, PPP3CA, PRKAR1A, PRKCG, MAPK10, ERCC6, KCNC1, SYNGAP1, HCN1, ACE, CTC1, CLN8, SNORD118, CSF2, COASY, NUS1, CACNA1B, ATP6V1A, MFSD8, SLC13A5, CTNND2, CTSD, BDNF, MCIDAS, CLTC, ABCD1, SLCO6A1, SCN1A-AS1, TIMM8A, DHDDS, CRP, FA2H, ATP1A2, AARS1, UBA5, CHD2, BCHE, DCAF17, ANXA1, ACHE, ATP1A3, DNMT1, DNM1, DEGS2, NGF, ESR1, BACE1, NFE2L2, SERPINA3, NRGN, COMT, ADIPOQ, KL, HTT, MTHFR, DPP4, NOTCH3, NEFL, REN, CD33, PPARG, SIRT1, VEGFA, FMR1, GABPA, GBA, AGPS, IGF1, IGFBP5, DTNBP1, CHRNA4, FGF21, TNF, ALB, PSEN2, CYP46A1, CREB1, GSK3B, PER3, DNM1L, CETP, ABCA7, PINK1, INSR, CCL2, EGF, SMUG1, ADM, C9orf72, ANP32A, WWC1, DENR, ATP13A2, ADAM10, SLC6A3, GDF15, VSNL1, VDR, APOA1, SNAP25, SHBG, SELP, CCL11, SNCG, APOC3, SCD, S100B, SOD1, SPAST, ALDH2, SYP, MIR146A, UTRN, SNCB, EPO, CAT, CRMP1, MMP9, HSD11B1, MEF2C, HSPB2, IAPP, TREM2, LEP, LCN2, RMC1, HMGB1, KCNQ2, IDUA, IL1A, IL1B, ITPK1, IL10, TARDBP, IRS1, HMOX1, IL18, GIP, EGR1, DAPK2, GRN, DNMT3A, GRIA1, EFTUD2, HOOK1, SELENBP1, CREST2, MIR30B, HDAC6, TWNK, BARHL1, SHANK3, CLN6, MIR206, AARS2, NME8, MIR18A, HDAC3, PQBP1, NAMPT, MIR34A, FLAD1, POTEKP, TMEM106B, CCHCR1, SRSF11, POTEM, TRPM7, NRXN3, BDNF-AS, RNF216, GRAP2, SLC16A3, CEBPZ, AKAP6, TREM1, PTGES, CLOCK, SLC16A4, PRC1, HDAC9, C20orf181, NANS, FHL5, TANGO2, ABI3, FIS1, WIF1, POLDIP2, NEIL2, NLRP3, STH, LRG1, PARK7, LRRK2, ACOT7, COPZ1, PLB1, BPIFA2, DKK1, SMG1, ARC, ASTN2, MCF2L, RNF19A, QPCT, FBXO7, IL31RA, CPO, NIPA1, SIRT3, SRRM2, FBXW8, WDR45, SLC17A5, RAPGEF3, TSHZ1, CALCOCO2, UBQLN2, WDR20, MIR106A, SUCLA2, SCGB1D4, IGLON5, DNMT3L, RIDA, RTL1, SPON1, RAPGEF4, AHSA1, CELF1, MTDH, OGA, REM1, HCAR1, SFXN1, PPARGC1A, MMP24, RNU1-1, ACTBL2, MPZL2, A2M, SUCLG2, EP300, GFAP, GDNF, MSTN, GBAP1, MTOR, FLT1, VEGFD, FANCD2, ENO2, LMNB1, EEF1A1, TOR1A, DUSP1, DBP, CYP19A1, CYP2D6, CYC1, CYBB, GHR, GJA1, GLP1R, GNG4, KCNJ13, ITGAM, IRF1, INPP5D, CXCL10, IL6R, IL1RAP, IGFALS, IFNG, IFNB1, IDE, ICAM1, HSPA4, HOXD13, HDAC2, HCRT, GRM5, CTNNB1, CST3, MAPK14, BCL2A1, B2M, AQP4, FAS, KLK3, APOB, AIRE, APBB1, APBA2, ANGPT2, ANGPT1, ALOX15, AKT1, GRK2, ADCYAP1, ADAR, ACTG2, ACTG1, BCL2, BRCA2, CRK, C3, COL17A1, CLN5, CLN3, TPP1, AKR1C4, CHAT, CDR1, CDKN2A, CBS, RUNX1T1, RUNX2, CASP6, CALR, CALCA, CALB1, VPS51, C3AR1, KNG1, LPL, FADD, SETMAR, TRIM21, SRPK2, SOAT1, SLC18A3, SLC10A1, SLC6A9, SGSH, SGCA, ATXN8OS, LRP2, TSPAN31, RENBP, REG1A, RBP4, RAPSN, RAB27A, PTX3, PTGS2, STXBP3, CNTN2, TFPI, TGFB1, TNFSF10, IRS2, UNC5C, ENC1, SRPX, AIMP2, YWHAZ, WNT5A, TRPV1, VGF, TYR, TTR, TPO, TNFRSF1A, TM7SF2, TLR4, TLR2, PTH, PTBP1, PSPH, NTF3, PNP, NOS3, NQO2, NFATC2, MX1, MUTYH, MUSK, TRNW, RNR2, MTR, COX2, MSMB, MPO, MMP13, MIF, MGAT1, MBL2, NPPA, NTRK1, PSG5, NTS, PSPN, EIF2AK2, MAPK1, PTPA, PPARA, PNN, PLXNB1, PLD1, PLA2G1B, PIK3CG, PIK3CD, PIK3CB, PIK3CA, SLC26A4, ENPP2, PAEP, P4HB, STIN2-VNTR
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Fish Acute Toxicity Syndrome
Wikipedia
Fish acute toxicity syndrome Specialty Veterinary medicine Fish acute toxicity syndrome ( FATS ) is a set of common chemical and functional responses in fish resulting from a short-term, acute exposure to a lethal concentration of a toxicant , a chemical or material that can produce an unfavorable effect in a living organism. [1] By definition, modes of action are characterized by FATS because the combination of common responses that represent each fish acute toxicity syndrome characterize an adverse biological effect. [1] Therefore, toxicants that have the same mode of action elicit similar sets of responses in the organism and can be classified by the same fish acute toxicity syndrome. ... "Use of Respiratory-Cardiovascular Responses of Rainbow Trout ( Salmo Gairdneri ) in Identifying Acute Toxicity Syndromes in Fish: Part 1, Pentachlorophenol, 2,4-Dinitrophenol, Tricaine Methanesulfonate and 1-Octanol". ... "Use of Respiratory-Cardiovascular Responses of Rainbow Trout ( Salmo Gairdneri ) in Identifying Acute Toxicity Syndromes in Fish: Part 2, Malathion, Carbaryl, Acrolein and Benzaldehyde". ... "Use of Respiratory-Cardiovascular Responses of Rainbow Trout (Oncorynchus Mykiss) in Identifying Acute Toxicity Syndromes in Fish. 4. Central Nervous System Seizure Agent". ... "Rules for distinguishing toxicants that cause type I and type II narcosis syndromes" . Environ. Health Perspect . 87 : 207–11. doi : 10.1289/ehp.9087207 .
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Rapid Eye Movement Sleep Behavior Disorder
Wikipedia
When awakened, people can usually recall the dream they were having, which will match the actions they were performing. [5] As the first indication of an underlying neurodegenerative disorder, symptoms of RBD may begin years or decades before other the onset of another condition. [2] Almost half of those with Parkinson's, at least 88% of those with multiple system atrophy, and about 80% of people with Lewy body dementia have RBD. [1] RBD is a very strong predictor of progression to a synucleinopathy (for example, the Lewy body dementias ). [3] On autopsy, up to 98% of individuals with polysomnography-confirmed RBD are found to have a synucleinopathy . [3] Symptomatic RBD can also be associated with narcolepsy , Guillain Barre syndrome , limbic encephalitis , and Morvan's syndrome . [4] Other symptoms found in patients with RBD are reduced motor abilities, posture and gait changes, mild cognitive impairment , alterations in the sense of smell , impairments in color vision , autonomic dysfunction ( orthostatic hypotension , constipation , urinary problems and sexual dysfunction ), and depression . [4] Causes [ edit ] Rapid eye movement behavior disorder occurs when there is a loss of normal voluntary muscle atonia during REM sleep resulting in motor behavior in response to dream content. ... Cite journal requires |journal= ( help ) External links [ edit ] Classification D ICD - 10 : G47.8 ICD - 10-CM : G47.52 MeSH : D020447 v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation StereotypySLC6A3, REM1, SNCA, GBA, LRRK2, PSG5, PAFAH1B1, MAPT, YWHAE, SF3B1, TET2, ASXL1, LAMC2, CSF2, SNCB, SNCG, PDSS2, SCARB2, APOE, RNH1, SMUG1, OPN1MW2, DGKQ, BEAN1, GAK, TMEM175, PPP1R2C, OPN1MW, GDF1, SHC3, UTS2R, FBXO7, HCRT, PRNP, CIT, PPP1R13L, CPLX1, CLOCK, SLC14A2, IL10, TPO, TK2, MC1R, PRKN, POR, OPN1MW3
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Acute Generalized Exanthematous Pustulosis
Wikipedia
These eruptions are pustules , i.e. small red white or red elevations of the skin that contain cloudy or purulent material (pus). [1] : 124 The skin lesions usually resolve within 1–3 days of stopping the offending medication. [2] However, more severe cases are associated with a more persistent disorder that may be complicated by secondary skin infections and/or involvement of the liver, lung, and/or kidney. [3] Severe cutaneous adverse reaction (SCAR) disorders are regarded as the drug-induced activation of T cells which then initiate innate immune responses that are inappropriately directed against self tissues. Studies on the DRESS syndrome, Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and SJS/TEN overlap indicate that many individuals are predisposed to develop these reactions to a particular medication based on their genetically-determined expression of particular human leukocyte antigen (i.e. ... SCARs are type IV, subtype IVb (DRESS syndrome), type IV, subtype IVc (SJS, SJS/TEN, TEN), or type IV, subtype IVd (AGEP) hypersensitivity reactions. ... HLA serotypes associated with AGEP and specific drugs have not been identified. [5] A study conducted in 1995 identified of HLA-B51, HLA-DR11, and HLA-DQ3 of unknown serotypes to be associated with development of AGEP but the results have not been confirmed, expanded to identify the serotypes involved, nor therefore useful in identifying individuals predisposed to develop AGEP in response to any drug. [2] Similarly, a specific T cell receptor variant has been associated with the development of DRESS syndrome, SJS, SJS/TEN, and TEN but not AGEP. [2] [17] Variations in ADME , i.e. an individuals efficiency in absorbing , distributing , metabolizing , and excreting a drug) has been found to occur in cases of the DRESS syndrome, SJS, SJS/TEN, and TEN. ... The SCARs group of disorders includes four other drug-induced skin reactions: drug reaction with eosinophilia and systemic symptoms (DRESS syndrome), Stevens–Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and Stevens–Johnson/toxic epidermal necrolysis overlap syndrome (SJS/TEN). ... "Current Perspectives on Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis".
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Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Omim
Description Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). ... Clinical Features Aicardi et al. (1988) described an autosomal recessive syndrome that closely resembled ataxia-telangiectasia (AT; 208900) but differed in important respects. They reported 14 patients in 10 families with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who had none of the extraneurologic features of AT. ... Molecular Genetics Date et al. (2001) characterized 7 families from various regions of Japan with clinical manifestations like those of the ataxia-oculomotor apraxia syndrome and again showed mapping to 9p13 as in Europeans and people of European descent. ... According to Dawson (2001), the syndrome of ataxia with oculomotor apraxia is sometimes referred to as Aicardi syndrome; this runs the risk of confusion with the other Aicardi syndrome, agenesis of the corpus callosum with chorioretinal abnormalities (304050).
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Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Omim
Colle et al. (1983) reported 2 children with reversible episodes of hypoglycemia and 'Reye syndrome' who during the acute phases showed urinary excretion of dicarboxylic acids and psi-hydroxy fatty acids. ... Stanley et al. (1983) reported 3 children in 2 families who presented in early childhood with episodes of illness associated with fasting and resembling Reye syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. ... Roe et al. (1986) identified this defect in mitochondrial beta-oxidation in 2 asymptomatic sibs in a family in which 2 previous infant deaths had occurred: one attributed to sudden infant death syndrome and one to Reye syndrome. Recognition of MCAD deficiency in one of these infants and in a surviving sib was accomplished by detection of octanoylcarnitine. ... They suggested that this would be useful in the screening of later-born sibs of cases of the following: proven MCAD deficiency, Reye syndrome (deceased and not tested for MCAD deficiency), sudden infant death syndrome under 1 year of age, sudden unexpected death between ages 1 and 4, and hypoglycemia of unknown origin. ... Other initial diagnoses included Reye syndrome, SIDS, idiopathic hypoglycemia, and carnitine deficiency.
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Critical Illness Polyneuropathy
Wikipedia
Critical illness polyneuropathy Specialty Neurology Critical illness polyneuropathy ( CIP ) and critical illness myopathy ( CIM ) are overlapping syndromes of diffuse, symmetric, flaccid muscle weakness occurring in critically ill patients and involving all extremities and the diaphragm with relative sparing of the cranial nerves. ... Cause [ edit ] The causes of CIP and CIM are unknown, though they are thought to be a possible neurological manifestation of systemic inflammatory response syndrome . [3] [10] Pathology [ edit ] Nerve biopsy would show axonal neuropathy, [7] but it is no longer indicated. ... However, when critical illness myopathy occurs, it is not solely due to loss of innervation of the muscle. [11] With critical illness myopathy, no other cause of the muscle degeneration can be found. Unlike Guillain Barre Syndrome , another neurological disorder that causes weakness, patients with critical illness polyneuropathy do not have loss of the myelin sheath that normally surrounds neurons ( demyelination ). [11] Diagnosis [ edit ] CIP and CIM are a major cause of ICU-acquired weakness (ICUAW). ... The three main risk factors for CIP and CIM are sepsis and systemic inflammatory response syndrome (SIRS), and multi-organ failure . ... External links [ edit ] Classification D ICD - 9-CM : 357.82 v t e Intensive care medicine Health science Medicine Medical specialities Respiratory therapy General terms Intensive care unit (ICU) Neonatal intensive care unit (NICU) Pediatric intensive care unit (PICU) Coronary care unit (CCU) Critical illness insurance Conditions Organ system failure Shock sequence SIRS Sepsis Severe sepsis Septic shock Multiple organ dysfunction syndrome Other shock Cardiogenic shock Distributive shock Anaphylaxis Obstructive shock Neurogenic shock Spinal shock Vasodilatory shock Organ failure Acute renal failure Acute respiratory distress syndrome Acute liver failure Respiratory failure Multiple organ dysfunction syndrome Neonatal infection Polytrauma Coma Complications Critical illness polyneuropathy / myopathy Critical illness–related corticosteroid insufficiency Decubitus ulcers Fungemia Stress hyperglycemia Stress ulcer Iatrogenesis Methicillin-resistant Staphylococcus aureus Oxygen toxicity Refeeding syndrome Ventilator-associated lung injury Ventilator-associated pneumonia Dialytrauma Diagnosis Arterial blood gas Catheter Arterial line Central venous catheter Pulmonary artery catheter Blood cultures Screening cultures Life-supporting treatments Airway management Chest tube Dialysis Enteral feeding Goal-directed therapy Induced coma Mechanical ventilation Therapeutic hypothermia Total parenteral nutrition Tracheal intubation Drugs Analgesics Antibiotics Antithrombotics Inotropes Intravenous fluids Neuromuscular-blocking drugs Recombinant activated protein C Sedatives Stress ulcer prevention drugs Vasopressors ICU scoring systems APACHE II Glasgow Coma Scale PIM2 SAPS II SAPS III SOFA Physiology Hemodynamics Hypotension Level of consciousness Acid–base imbalance Water-electrolyte imbalance Organisations Society of Critical Care Medicine Surviving Sepsis Campaign European Society of Paediatric and Neonatal Intensive Care Related specialties Anesthesiology Cardiology Internal medicine Neurology Pediatrics Pulmonology Surgery Traumatology
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Facial Nerve Paralysis
Wikipedia
Reactivation of latent virus within the geniculate ganglion is associated with vesicles affecting the ear canal, and termed Ramsay Hunt syndrome type II . [6] In addition to facial paralysis, symptoms may include ear pain and vesicles, sensorineural hearing loss , and vertigo . ... The VI cranial nerve, which controls lateral eye movement, is also affected, so people with Moebius syndrome cannot form facial expression or move their eyes from side to side. Moebius syndrome is extremely rare, and its cause or causes are not known. ... Retrieved 22 November 2009 . ^ a b Fuller, G; Morgan, C (31 March 2016). "Bell's palsy syndrome: mimics and chameleons". Practical Neurology . 16 (6): 439–44. doi : 10.1136/practneurol-2016-001383 . ... External links [ edit ] Classification D ICD - 10 : G51 ICD - 9-CM : 351 MeSH : D005158 SNOMED CT : 46382007 External resources MedlinePlus : 003028 eMedicine : plastic/522 v t e Cranial nerve disease Olfactory Optic Oculomotor Oculomotor nerve palsy Trochlear Trochlear nerve palsy Trigeminal Trigeminal neuralgia Abducens Abducens nerve palsy Facial Central facial palsy Facial nerve paralysis Bell's palsy Vestibulocochlear Glossopharyngeal Vagus Accessory Accessory nerve disorder Hypoglossal Combined syndromes Bulbar palsy Jugular foramen syndrome Cavernous sinus thrombosisPOMC, CHD7, TUBB6, SOST, GSN, CLCF1, POLG2, CNKSR2, TRIM32, IQSEC2, PLXND1, SLC39A14, ACADS, FTSJ1, IL1RAPL1, GMPPB, POMT2, LRP12, SUFU, ADA2, DLL4, SNX10, MID2, ZC4H2, POMT1, ACTA1, PEX3, TNFSF11, PEX11B, SQSTM1, MTMR2, LARGE1, CRLF1, PEX16, ARHGEF6, BAG3, SEMA3E, FRMPD4, BMS1, PTDSS1, MED12, GNE, SPEG, TCIRG1, PEX26, LMOD3, ANKH, ALG14, SLC52A3, RAB39B, ADSS1, KLHL40, AMER1, PTCHD1, SIX5, ARX, ANO5, ALG2, AK9, DOK7, KY, ZNF81, AGRN, MYMK, USP27X, CHCHD10, MGME1, SLC9A7, GAN, NOD2, BTNL2, GJC2, SALL4, SELENON, SPTBN4, TRPV4, SLC5A7, CXorf56, MTMR14, MYPN, UPF3B, FKRP, SLC52A2, SH3TC2, NARS2, ALG13, PYROXD1, MEGF10, USP9X, COLQ, PABPN1, DLG3, DMPK, DNA2, DNM2, DPAGT1, EYA1, ACSL4, FRG1, GDI1, GFPT1, GJA1, HCFC1, HLA-DRB1, HOXB1, LAMA2, LAMB2, LRP5, MECP2, DMD, DES, MUSK, DCTN1, AGTR2, BIN1, SLC25A4, ASAH1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN4, CLCN7, COL4A1, COL6A1, COL6A2, COL6A3, COL12A1, COL13A1, MTM1, LRP4, MYH7, TGFB1, PEX5, RAPSN, REV3L, RPS6KA3, NEB, RYR1, TPM3, TPM2, SCN4A, SGCD, SIX1, TSPAN7, TK2, SLC18A3, SMARCB1, PEX2, TTN, ZNF711, PEX19, NF2, PAK3, ZNF41, PDGFB, PEX1, PEX6, SYP, PEX10, UBA1, PEX12, PEX13, PEX14, POLG, TPO, ALB, GSTK1, TUBB3, SLCO6A1, SLC6A2, CRP, CSF2, CXCL13, ELK3, EPHB1, SMUG1, HPGDS, LAMC2, BRPF1, ORI6
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Glomerulonephrosis
Wikipedia
Such a blockage will prevent the glomerulus from functioning properly and eventually causes damage. [11] Other forms of secondary glomerulonephrosis can be caused by autoimmune disorders such as HIV , Sjögren's Syndrome , and Hepatitis B , and some cancers, including multiple myeloma . [10] Mechanism/Pathophysiology [ edit ] A normal podocyte without damage. ... References [ edit ] ^ a b "Nephrosis (Nephrotic Syndrome)" . Cancer Therapy Advisor . 2019-01-17 . ... PMC 5500455 . PMID 28729966 . ^ "Nephrotic Syndrome in Adults | NIDDK" . National Institute of Diabetes and Digestive and Kidney Diseases . ... PMID 24761384 . ^ a b "Nephrotic syndrome - Symptoms and causes" . Mayo Clinic . ... "Corticosteroid therapy for nephrotic syndrome in children" . The Cochrane Database of Systematic Reviews . 2015 (3): CD001533. doi : 10.1002/14651858.CD001533.pub5 .
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Tactile Hallucination
Wikipedia
Tactile hallucinations are also caused by drugs such as cocaine and alcohol . [1] Contents 1 History and background 2 Tactile hallucinations in schizophrenia 3 Tactile hallucinations in Parkinson's disease 4 Tactile hallucinations in restless legs syndrome 5 Tactile hallucination in phantom limbs 6 Drug-induced tactile hallucinations 7 Cenesthopathic tactile hallucinations 8 Pathophysiology 9 See also 10 References History and background [ edit ] In Ancient Greek times, touch was an unrefined perceptual system. ... During the 19th century, tactile hallucinations were classified as symptoms associated with insanity , organic and toxic syndromes and delusional parasitosis yet there was no identification on how such hallucinations were caused. [1] Currently, neuroscientists such as Dr. ... Drug-induced tactile hallucinations [ edit ] Photo of cocaine Organic and toxic syndromes can also induce tactile hallucinations. ... PMID 15782612 . ^ a b c d e "Restless Legs Syndrome Fact Sheet | National Institute of Neurological Disorders and Stroke" . www.ninds.nih.gov . Retrieved 2019-11-20 . ^ a b c d Kieffer, Sara. "What is Restless Legs Syndrome (RLS)? | The Johns Hopkins Center for Restless Legs Syndrome" . www.hopkinsmedicine.org .