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Wart
Wikipedia
Plantar warts (verruca) – HPV type 1 (most common); also types 2, 3, 4, 27, 28, and 58 [ citation needed ] and others. ... Verruca plana (flat warts) – HPV types 3, 10, and 28. Butcher's warts – HPV type 7. Heck's disease (focal epithelial hyperplasia) – HPV types 13 and 32. ... Procedures [ edit ] Liquid nitrogen spray tank Keratolysis , of dead surface skin cells usually using salicylic acid , blistering agents, immune system modifiers ("immunomodulators"), or formaldehyde , often with mechanical paring of the wart with a pumice stone, blade etc. [26] Electrodesiccation [27] Cryosurgery or cryotherapy , which involves freezing the wart (generally with liquid nitrogen ), [28] creating a blister between the wart and epidermal layer after which the wart and the surrounding dead skin fall off.ATP5F1D, PIK3R1, TMC8, CARMIL2, DOCK8, DCLRE1C, LRRC8A, BLNK, TMC6, CIB1, FCN3, IKBKG, CXCR4, XPA, CD79A, STK4, TCF3, IL7, IGHM, CD79B, ECM1, KRT16, KRT9, KRT1, PIK3CA, IGLL1, CDKN2A, IFN1@, IFNB1, TLR9, PKHD1, CD274, LATS1, PRPF4B, MYC, TP53, TLR3, PCNA, H3P10
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Middle East Respiratory Syndrome
Wikipedia
Between people [ edit ] There has been evidence of limited, but not sustained spread of MERS-CoV from person to person, both in households as well as in health care settings like hospitals. [12] [28] Most transmission has occurred "in the circumstances of close contact with severely ill persons in healthcare or household settings" and there is no evidence of transmission from asymptomatic cases. [29] Cluster sizes have ranged from 1 to 26 people, with an average of 2.7. [30] Diagnosis [ edit ] According to World Health Organization , the interim case definition is that a confirmed case is identified in a person with a positive lab test by "molecular diagnostics including either a positive PCR on at least two specific genomic targets or a single positive target with sequencing on a second". [31] World Health Organization [ edit ] According to the WHO, a probable case is [31] a person with a fever, respiratory infection, and evidence of pneumonia or acute respiratory distress syndrome, where testing for MERS-CoV is unavailable or negative on a single inadequate specimen, and the person has a direct link with a confirmed case. ... CT scans show interstitial infiltrates. [28] Laboratory testing [ edit ] MERS cases have been reported to have low white blood cell count , and in particular low lymphocytes . [28] For PCR [ clarification needed ] testing, the World Health Organization (WHO) recommends obtaining samples from the lower respiratory tract via bronchoalveolar lavage (BAL), sputum sample or tracheal aspirate as these have the highest viral loads. [34] There have also been studies utilizing upper respiratory sampling via nasopharyngeal swab . [11] Several highly sensitive, confirmatory real-time RT-PCR assays exist for rapid identification of MERS-CoV from patient-derived samples. ... Retrieved 27 July 2015 . ^ Glendinning A (28 July 2015). "Two patients in Manchester test negative for MERS virus" . men . ^ "Mysterious disease kills camels in Marsabit" . ... "Middle East respiratory syndrome coronavirus: another zoonotic betacoronavirus causing SARS-like disease" . Clinical Microbiology Reviews . 28 (2): 465–522. doi : 10.1128/CMR.00102-14 .VTN, CDSN, DPP4, SARS2, SARS1, DEFB4B, ISG15, TMPRSS2, DEFB4A, IFNA1, IFNA13, IFNB1, ADA, IFITM3, MERTK, SH2D3C, SH2D3A, DDX58, SIRT1, IFIH1, PYCARD, TLR7, ERVK-6, IFITM1, PDF, ROBO3, SPECC1, ASZ1, TMPRSS11A, SIRT1-AS, SH3BP5, STAT3, TRIM25, IRF3, TSPO, CHRM3, CRP, CTSL, GPER1, HSPA5, IL1B, CXCL10, KIT, TNF, KRT14, MAX, PPIA, PPP1CA, PLAAT4, RNASEL, SLC5A5, ATP1A1, ERVK-32
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Toxocariasis
Wikipedia
The full lifecycle usually only occurs in these females and their offspring. [15] [24] Second stage larvae will also hatch in the small intestine of an accidental host, such as a human, after ingestion of infective eggs. [27] The larvae will then migrate through the organs and tissues of the accidental host, most commonly the lungs, liver, eyes, and brain. [28] Since L2 larvae cannot mature in accidental hosts, after this period of migration, Toxocara larvae will encyst as second stage larvae. [3] [6] [15] Diagnosis [ edit ] Finding Toxocara larvae within a patient is the only definitive diagnosis for toxocariasis; however, biopsies to look for second stage larvae in humans are generally not very effective. [6] [10] PCR , ELISA , and serological testing are more commonly used to diagnose Toxocara infection. [6] [10] Serological tests are dependent on the number of larvae within the patient, and are unfortunately not very specific. [10] ELISAs are much more reliable and currently have a 78% sensitivity and a 90% specificity. [29] A 2007 study announced an ELISA specific to Toxocara canis , which will minimize false positives from cross reactions with similar roundworms and will help distinguish if a patient is infected with T. canis or T. cati . [30] OLM is often diagnosed after a clinical examination. [29] Granulomas can be found throughout the body and can be visualized using ultrasound, MRI, and CT technologies. [10] Preventions [ edit ] Actively involving veterinarians and pet owners is important for controlling the transmission of Toxocara from pets to humans. ... Retrieved 17 September 2017 . ^ Sariego I, Kanobana K, Rojas L, Speybroeck N, Polman K, Núñez FA (28 February 2012). Carabin H (ed.). "Toxocariasis in Cuba: a literature review" . ... "Cerebral Toxocariasis: Silent Progression to Neurodegenerative Disorders?" . Clinical Microbiology Reviews . 28 (3): 663–86. doi : 10.1128/CMR.00106-14 .
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Hiv/aids In South Africa
Wikipedia
The latest HIV data collected at antenatal clinics suggest that HIV infection levels might be levelling off, with HIV prevalence in pregnant women at 30% in 2007, 29% in 2006, and 28% in 2005. The decrease in the percentage of young pregnant women (15–24 years) found to be infected with HIV can be extrapolated to suggest a possible decline in the annual number of new infections. [15] By age [ edit ] Between 2005 and 2008, the number of older teenagers with HIV/AIDS has nearly halved. [16] Between 2002 and 2008, prevalence among South Africans over 20 years old have increased whereas the figure for those under 20 years old have dropped somewhat over the same period. [16] Condom use is highest among the youth and lowest among older people. ... , about AIDS, in order to reach young people. [25] The project was dogged by controversy, and was finally shelved in 1996. [26] From 6 to 10 March 1995, the 7th International Conference for People Living with HIV and AIDS was held in Cape Town , South Africa. [27] The conference was opened by then-Deputy President Thabo Mbeki . [28] 1996 [ edit ] In January 1996, it was decided that South Africa's national soccer team, Bafana Bafana , would contribute to the AIDS Awareness Campaign by wearing red ribbons to all their public appearances during the Africa Nations Cup . [29] On 5 July 1996, [30] South Africa's Health Minister, Nkosazana Dlamini-Zuma , spoke at the 11th International Conference on AIDS in Vancouver . ... CS1 maint: archived copy as title ( link ) ^ Vos, Pierre De (28 May 2009). "Thabo Mbeki's strange relationship with the truth continues – Constitutionally Speaking" .
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Combined Small-Cell Lung Carcinoma
Wikipedia
A patient is assigned an ED stage when the tumor burden is greater than that defined under LD criteria — either far advanced locoregional disease , malignant effusions from the pleura or pericardium , or distant metastases . [27] However, more recent data reviewing outcomes in very large numbers of SCLC patients suggests that the TNM staging system used for NSCLC is also reliable and valid when applied to SCLC patients, and that more current versions may allow better treatment decisionmaking and prognostication in SCLC than with the old dichotomous staging protocol. [24] [28] [29] Treatment [ edit ] A very large number of clinical trials have been conducted in "pure" SCLC over the past several decades. [26] As a result, evidence-based sets of guidelines for treating monophasic SCLC are available. [30] [31] While the current set of SCLC treatment guidelines recommend that c-SCLC be treated in the same manner as "pure" SCLC, they also note that the evidence supporting their recommendation is quite weak. [31] It is likely, then, that the optimum treatment for patients with c-SCLC remains unknown. [20] The current generally accepted standard of care for all forms of SCLC is concurrent chemotherapy (CT) and thoracic radiation therapy (TRT) in LD, and CT only in ED. ... Tatematsu et al. reported 15 cases of c-SCLC (12%) in their series of 122 consecutive SCLC patients, but only 20 resection specimens were examined. [62] In contrast, Nicholson et al. found 28 c-SCLC (28%) in a series of 100 consecutive resected SCLC cases. [9] It appears likely, then, that the c-SCLC variant comprises 25% to 30% of all SCLC cases. [30] [11] As the incidence of SCLC has declined somewhat in the U.S. in recent decades, [79] it is likely that c-SCLC has also decreased in incidence. ... "Phase III study of pemetrexed plus carboplatin compared with etoposide plus carboplatin in chemotherapy-naive patients with extensive-stage small-cell lung cancer" . J. Clin. Oncol . 27 (28): 4787–92. doi : 10.1200/JCO.2009.23.1548 .
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Abortion In New York
Wikipedia
They tried and failed again in 2016, 2017 and 2018. [20] As of 2018, Florida, Nevada, and New York had laws prohibiting abortions after 24-weeks. [21] As of May 14, 2019, the state prohibited abortions after the fetus was viable, generally some point between week 24 and 28. This period uses a standard defined by the US Supreme Court in 1973 with the Roe v. ... The Court's upholding the fixed buffer was the most important aspect of the ruling, because it was a common feature of injunctions nationwide. [28] Clinic history [ edit ] Number of abortion clinics in New York by year See also: Abortion clinic In the 1940s, police would raid suspected illegal abortion clinics. [29] Between 1982 and 1992, the number of abortion clinics in the state decreased by thirteen, going from 302 in 1982 to 289 in 1992. [30] The number of abortion providers in New York was 266 in 1996. [31] In the period between 1992 and 1996, the state ranked third in the loss of number of abortion clinics, losing 23 to have a total of 266 in 1996. [31] In 2008, the states with the most providers were California with 522 and New York with 249. [32] In 2014, there were 95 abortion clinics in the state. [33] 44% of the counties in the state did not have an abortion clinic. ... David Gandell of Rochester, New York sustained serious injuries in October 28, 1997 after being targeted by a sniper firing through a window in his home. [65] Between 1993 and 2015, 11 people were killed at American abortion clinics. [66] Dr. ... Retrieved 2019-05-25 . ^ Low, Matt Donnelly,Gene Maddaus,Elaine; Donnelly, Matt; Maddaus, Gene; Low, Elaine (2019-05-28). "Netflix the Only Hollywood Studio to Speak Out in Attack Against Abortion Rights (EXCLUSIVE)" .
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Shellfish Allergy
Wikipedia
One theory holds that proteins which resist digestion in the stomach, therefore reaching the small intestine relatively intact, are more likely to be allergenic, but studies have shown that digestion may abolish, decrease, have no effect, or even increase the allergenicity of food allergens. [28] The heat of cooking structurally degrades protein molecules, potentially making them less allergenic. [29] [30] Hypersensitivities are categorized according to the parts of the immune system that are attacked and the amount of time it takes for the response to occur. ... "Seafood allergy: A comprehensive review of fish and shellfish allergens". Mol. Immunol . 100 : 28–57. doi : 10.1016/j.molimm.2018.04.008 . ... Archived from the original on 2009-06-28. ^ Grimbaldeston MA, Metz M, Yu M, Tsai M, Galli SJ (2006).
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Behçet's Disease
Wikipedia
The quality of the evidence for treating the oral ulcers associated with Behçet's disease, however, is poor. [25] High-dose corticosteroid therapy is often used for severe disease manifestations. [26] Anti-TNF therapy such as infliximab has shown promise in treating the uveitis associated with the disease. [27] [28] Another Anti-TNF agent, etanercept , may be useful in people with mainly skin and mucosal symptoms. [29] Apremilast may also be used to treat oral ulcers associated with Behçet's disease. [30] Interferon alpha-2a may also be an effective alternative treatment, particularly for the genital and oral ulcers [31] as well as ocular lesions. [32] Azathioprine , when used in combination with interferon alpha-2b also shows promise, [33] and colchicine can be useful for treating some genital ulcers, erythema nodosum , and arthritis. [34] Benzathine‐penicillin may also reduce new arthritic attacks. [35] Thalidomide has also been used due to its immune-modifying effect. [36] Dapsone and rebamipide have been shown, in small studies, to have beneficial results for mucocutaneous lesions. [37] [38] Given its rarity, the optimal treatment for acute optic neuropathy in Behçet's disease has not been established. ... Archived from the original on 16 February 2009 . Retrieved 28 March 2009 . ^ Direskeneli, H. (2013). ... "Efficacy of rebamipide as adjunctive therapy in the treatment of recurrent oral aphthous ulcers in patients with Behcet's disease: a randomised, double-blind, placebo-controlled study". Drugs in R&D . 4 (1): 19–28. doi : 10.2165/00126839-200304010-00002 . ... "Digital angiography for the diagnosis of dural sinus thrombosis in Behçet's disease" . Arthritis Rheum . 28 (3): 359–60. doi : 10.1002/art.1780280323 .ERAP1, IL10, HLA-B, STAT4, KLRC4, CCR1, MEFV, IL12A-AS1, IL23R, PSORS1C1, CXCL8, TLR4, ICAM1, UBAC2, FAS, IL12A, ITGB2, ITGAL, AHR, SERPINE1, C4A, APOA1, APOB, CAT, MICA, NOD2, TNFRSF1A, PSTPIP1, CCR3, MICB, KLRC4-KLRK1, ADA2, CCHCR1, CDSN, HLA-DRB9, TFCP2L1, HLA-C, NOS3, IL1A, F5, TNF, HLA-A, IL12RB2, IL17A, IL6, WWC1, IFNG, IL19, F2, IL1B, TNFAIP3, IL2, CTLA4, MTHFR, CCR5, KIR3DL1, TLR2, CCL2, IL23A, HLA-DRB1, VEGFA, IL18, VDR, IL37, GEM, MMP9, IL4, ACE, CRP, IL12B, IL1RN, HSPD1, IL33, STAT3, NLRP3, MIR146A, CD40, LEP, PTPN22, JAK1, MBL2, ENO1, BCL2, KIR3DL2, SUMO4, NFKB1, MIR155, IL9, ITGAX, HSPA14, GATA3, KIDINS220, IRF8, CXCR2, GSTM1, HLA-G, KIR2DS1, HLA-DQA1, TLR7, ABCB1, IL17F, FCGR3A, LTA, CD28, QPCT, UBASH3B, CSF2, ATG5, ADIPOQ, SELL, SLC11A1, SOCS1, SOAT1, USO1, TAP2, IKBKG, TAP1, PIEZO1, TG, TGFB1, TGFBR1, TGFBR3, THBD, TNFRSF1B, TNFSF4, PTPN2, KIR3DS1, NOD1, MVK, LAMP1, JAK2, MIF, MKI67, SEC14L2, ITGAM, IL1R1, IL22, CXCL10, CPQ, NFKBIA, IL15RA, IL15, NM, NOS2, TBC1D9, KRAS, NXF1, MPO, NAT2, IFNA13, GSTT1, MIB1, GAS6, ERAP2, FLNB, FCN2, ETS1, TSLP, CYP2C9, CYP2C19, TIRAP, FCRL3, CPB2, RBM45, IFNA2, CEBPB, MIR21, CCDC180, ANXA2, ANXA1, CXCR3, CCR7, IFNA1, IL26, HLA-DPB1, CPVL, HNRNPA2B1, HLA-E, TLR9, LINC01193, TNFSF12, CDK5R1, PROZ, IL32, GADL1, TIMELESS, SOCS3, ARMH1, CTDP1, SCAF11, ARHGEF2, XPR1, MBL3P, CD83, ENHO, SLC9A3R2, YIPF7, PPIG, IFNL2, AIM2, DAOA, ROCK2, GAL3ST1, CCL4L2, NAALADL2, IL27, ZEB2, WDR1, LRPPRC, TNFSF13, TP63, CCL4L1, IL17D, HNRNPA1P10, WNT3, VWF, POTEF, DEFB4B, CNTN5, LINC-ROR, LANCL1, VTN, VIP, VEGFB, UPK3B, CST12P, H3P13, YWHAE, DEFA1A3, MIR146B, DEFB104B, WG, ARHGEF5, TAM, MIR326, PLA2G6, TNFSF12-TNFSF13, MIR301A, MIR23A, TLR8, GEMIN2, MIR185, PIAS1, MIR182, RABEPK, HT, TNIP1, CD274, PANX1, ATG10, NDEL1, POU2F3, PDCD1LG2, HAVCR1, RNF39, ARMC9, DISC1, IL17B, PDCD4, PYCARD, NEIL1, VKORC1, FOXP3, CASP14, PADI1, PDIA2, CLEC7A, TET2, CASZ1, PRPF40A, BACH2, NCOA5, TBX21, SEMA6A, TRIM39, AICDA, CD209, IL20, KIAA1109, TUBA1C, ASXL1, KLRK1, RETN, ANP32B, PROCR, SLC35A1, CXCL13, TNFSF13B, DEFB104A, TRAF3IP2, CPLX1, UTS2, PRSS21, TYMS, EBNA1BP2, NLRP1, CYCS, HAVCR2, KIR3DL3, TNFRSF13C, CLEC16A, TREM1, KRT20, CDCA5, DICER1, INTS4, SIRT1, IRAK4, SF3B1, ZNF804A, PADI4, ADO, VCAM1, PSMD7, TYK2, ELANE, FLNA, FOXO1, FCGR3B, FCGR2A, F10, F9, ETFB, ESR1, EREG, EGF, FUT2, DHCR7, DEFB4A, DEFB1, DEFA1, CYP27B1, CYP24A1, CYP2B6, CYP1A1, CX3CR1, FSHMD1A, GATM, TXK, HLA-DQB1, IL2RA, IFI16, HTR2C, HSPA6, HSPA4, HNRNPA1, HMOX1, HMGB1, HLA-F, NRG1, GCHFR, HFE, HBB, H2AX, GZMB, CXCL1, GRIA2, GP2, GLI3, GLB1, CTSG, CCN2, CSF3, FASLG, C3AR1, BTK, BLK, AVP, ATP4A, ATP12A, ATF3, ARSA, AREG, APOH, CSF1, APOE, ANXA5, AMH, ALB, AKT1, AIF1, ADARB1, ADA, ACTB, C4BPA, C4BPB, CA4, CALR, CR2, CORT, CCR6, CCR4, CISH, CEBPD, CDKN2D, CDKN2A, CD69, CD40LG, MS4A1, CD14, RUNX1, CASP9, CASP8, CASP3, CASP1, CAPS, CAMP, IL2RB, IL4R, IL6ST, SAG, CXCL5, CXCL6, CCL20, CCL13, CCL11, CCL5, CCL4, CCL3, SAT1, SAA1, EIF2AK2, RORC, ROCK1, REG1A, REL, ACLY, PSMB8, PRTN3, PROS1, PROC, CX3CL1, SELE, SELPLG, SLC6A4, HSP90B2P, TRAF5, TPI1, TP53, TLR1, TIMP2, TGM2, TEP1, TRG, TRD, TRBV20OR9-2, TRIM21, SPP1, SPG7, SOD2, SOD1, SLC22A5, SLC22A4, SLC25A1, PRL, MAPK3, CXCR1, KLRD1, MAFD2, LYZ, LIMK2, LIG4, LGALS3, LBR, STMN1, RPSA, LAMC2, KLRC2, MAPK1, KLRC1, KIR2DL4, ITGB3, ITGA2, IRF5, IRF1, IRAK1, IL12RB1, IL11, MCAM, CIITA, MMP2, MMP12, PRKCQ, PON1, POMC, PLA2G2A, PLA2G1B, SERPINA1, PF4, PDGFRL, PDCD1, PAPPA, PAFAH1B1, P4HB, ORM2, NTRK1, NGF, NEFM, NDUFB2, MRC1, MNAT1, H3P28
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Crimean–congo Hemorrhagic Fever
Wikipedia
The deaths of three other individuals in the northern region were suspected to have been caused by the virus. [28] Another unrelated CCHF patient was admitted to Mulago Hospital on the same day. ... Archived from the original on April 28, 2014. ^ a b c d Keshtkar-Jahromi M, Kuhn JH, Christova I, Bradfute SB, Jahrling PB, Bavari S (May 2011). ... Archived from the original on 2016-03-04 . Retrieved 2015-03-28 . ^ "Congo fever confirmed in Amreli village" .IL6, ISG15, IFNA1, IFNG, IFNAR2, IFNA13, PDPN, MBTPS1, SMARCA1, STAT1, TGFB1, TLR3, TNF, ANK2, PON1, SLC17A5, LAMP3, TLR7, TLR8, TLR9, HHAT, NOX5, TLR10, ZUP1, IFNL3, S100A10, LSAMP, NFKB1, MPO, CA1, CA2, CAT, CD34, CCR5, CP, CRP, F2, GPT, HLA-A, HMGB1, HSPA4, ICAM1, IFNA17, IL10, IRF3, AQP6, CD24
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Abortion In Florida
Wikipedia
It did not pass. [21] This was repeated the next year, where Florida was one of three states trying and failing to ban abortion. [21] Again, in 2013, Florida along with five other states, tried to enact abortion bans but failed. [21] 2014 was a repeat, where it was one of three states. [21] Members of the Florida legislature tried to ban abortion again in 2015, where the state was one of five. [21] 2016 was another repeat year, where Florida was one of four states trying to unsuccessfully ban abortion. [21] Florida, Nevada, and New York had laws prohibiting abortions after 24-weeks. [22] This law was still in place by mid-May 2019. [21] As of May 14, 2019, abortions could not take place after the fetus was viable, generally some point between week 24 and 28. This period uses a standard defined by the US Supreme Court in 1973 with the Roe v. ... Dennis Baxley . [26] The bills, which are identical, [27] make it third-degree felony for a doctor who performs an abortion on a woman after a fetal heartbeat is detected, [28] unless the "woman has been diagnosed with a condition that would create a serious risk of substantial and irreversible impairment of a major bodily function if the woman delayed terminating her pregnancy." [29] Florida Governor Ron DeSantis has pledged to sign legislation that would ban abortions after a fetal heartbeat was detected. [30] [31] The 2019 Regular Legislative Session of the Florida legislature convened on March 5, 2019. [32] [33] Both 2019 bills were defeated; (HB 235) on May 3, 2019 died in Health Quality Committee, and (SB 792) on May 3, 2019 died in Health Policy. [34] [35] Judicial history [ edit ] The US Supreme Court 's decision in 1973's Roe v. ... Retrieved February 9, 2019 . an abortion can be provided if a woman has been diagnosed with a condition that "would create a serious risk of substantial and irreversible impairment of a major bodily function if the woman delayed terminating her pregnancy." ^ Glorioso, Alexandra (June 28, 2018). "Putnam and DeSantis vow to sign abortion-ban law if elected" .
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Hypercholesterolemia
Wikipedia
A 2016 review found tentative evidence that dietary cholesterol is associated with higher blood cholesterol. [25] Trans fats have been shown to reduce levels of HDL while increasing levels of LDL. [26] LDL and total cholesterol also increases by very high fructose intake. [27] As of 2018 there appears to be a modest positive, dose-related relationship between cholesterol intake and LDL cholesterol. [28] Diagnosis [ edit ] See also: High-density lipoprotein § Recommended ranges , and Low-density lipoprotein § Normal ranges Interpretation of cholesterol levels cholesterol type mmol/L mg/dL interpretation total cholesterol <5.2 <200 desirable [29] 5.2–6.2 200–239 borderline [29] >6.2 >240 high [29] LDL cholesterol <2.6 <100 most desirable [29] 2.6–3.3 100–129 good [29] 3.4–4.1 130–159 borderline high [29] 4.1–4.9 160–189 high and undesirable [29] >4.9 >190 very high [29] HDL cholesterol <1.0 <40 undesirable; risk increased [29] 1.0–1.5 41–59 okay, but not optimal [29] >1.55 >60 good; risk lowered [29] Cholesterol is measured in milligrams per deciliter (mg/dL) of blood in the United States and some other countries. ... "Understanding lipoproteins as transporters of cholesterol and other lipids". Adv Physiol Educ . 28 (1–4): 105–06. doi : 10.1152/advan.00048.2003 . ... PMID 27532917 . ^ Genest, J; Frohlich, J; Fodor, G; McPherson, R (2003-10-28). "Recommendations for the management of dyslipidemia and the prevention of cardiovascular disease: summary of the 2003 update" .APOB, LDLR, APOE, PCSK9, CYP7A1, LPL, HMGCR, ABCA1, LEP, LIPC, CETP, LDLRAP1, ABCG8, APOC3, ABCG5, LIPA, LPA, APOA1, PON1, SCARB1, VCAM1, SELE, CES1, GPD1, NR4A3, STAP1, LMF1, MTTP, COL3A1, CTF1, MYLK, SAR1B, ANGPTL3, GPIHBP1, ICAM1, LCAT, EDN1, NOX1, NCF1, SREBF2, SREBF1, CYP51A1, ALPL, CASP3, GSR, CD40LG, CASP9, G6PD, CD40, MIF, SCAP, CSF1, PPP4R3B, ALB, CAV1, PPP1R17, LRP6, APTX, CYP27A1, APOA2, JAG1, MIR6886, OCRL, SETX, CAV3, PYGL, DEAF1, TTPA, GHR, NUP107, PIK3R5, EPHX2, RSPO1, COG4, IQSEC2, SLC25A13, TDP1, TMEM199, PHKG2, PHKA2, LMNA, FLII, CCDC115, RAI1, DYRK1B, SLC7A7, DGAT1, MEF2A, IL6, AGT, SERPINE1, NPC1L1, TNF, CRP, CD36, ACE, CAD, IL1B, CAT, AGTR1, CCR2, NOS3, OLR1, LRP5, SLCO1B1, CYBA, REN, CYP3A5, GPT, PSMD9, CCL2, VEGFA, SORT1, SOD2, SOD1, SLC10A2, APP, SELP, MTHFR, PPIA, DECR1, NR0B2, LIPG, NPY, F3, ESR1, CYP3A4, EGFR, CHDH, NR1I2, IL1A, AGER, SACM1L, IL2, SIRT1, IL10, PDX1, KDR, RAB7B, AFP, SCD, VWF, RAB7A, PLA2G7, TRAF6, SOAT2, TGFB1, SQLE, SLC5A2, ADIPOQ, LEPR, ROS1, ABCG2, MAPK1, PPARA, ABCB1, NFE2L2, ACAT2, LINC01672, PON2, CNBP, LINC01194, EDNRA, CD68, TLR9, CCK, GABPA, GCG, FOXP3, C3, ENG, NLRP3, GNB3, CPB2, BCL2, UBIAD1, HMOX1, DPP4, CYBB, NR4A1, ABCG4, LPAR2, MICA, EHMT1, ABCG1, LPAL2, ACKR3, CARTPT, SNCAIP, ATG12, SRCIN1, MIR126, XPR1, RAB9A, GGCT, MIR30C1, MIR150, PTGES, ATG3, MIR221, MIR27A, ARTN, TBPL1, GDF15, KLHL1, MIRLET7G, MIR146B, MGAM, WASF1, ALMS1, CLEC9A, SCG2, OR10A4, CBSL, ENHO, ST8SIA4, MPEG1, ZNF627, LINC00599, RBM45, HMGA2, PLA2G6, OSCP1, CYP4F2, ABCB11, BECN1, G6PC3, ABCC3, TNFSF14, TNFRSF10B, SUCLA2, BUD13, ACCS, GFOD2, VNN1, ASAH2, SQSTM1, ZPR1, HDAC9, WASHC5, PCLAF, MMRN1, DCTN4, INSIG2, SPACA9, SYCE1L, ZGLP1, CAPN10, ADIPOR1, MIR652, AKAP10, CXADRP1, SLCO2B1, NOX4, COG2, MYLIP, MIR98, COPS5, NOB1, HPGDS, TBC1D9, LPIN1, GNMT, IL37, CHIA, INTU, YWHAZ, SLC17A5, CD2AP, BACE1, FGF21, NUP62, RXFP3, SPG21, APOM, STK25, APOBR, OCLN, OSBPL2, PLA2G15, NR1I3, NR1H4, SH2B3, NR1H3, ACSS2, ENAH, MIR30C2, TRIM13, TET2, KLF2, UGT1A1, UTS2, DLL4, ATG7, DDIT4, NPC2, TREM1, TREM2, KHDRBS1, HDL3, CXCR6, BCL11A, TNFSF13B, IL23A, WASF3, SIRT6, CABIN1, MAPK3, XDH, FASN, FABP2, ESRRB, ESRRA, EPHB2, PHC2, E2F1, DIH1, DHCR7, DAB2, CYP19A1, CYP17A1, CYP2D6, CYP2B6, CXADR, CX3CR1, CSF2, CP, COMT, COL15A1, ACSL4, FDFT1, HDC, FGF2, GTF2H1, NR3C1, GPR42, GPER1, GNAQ, GLP1R, GJA1, GH1, GFAP, GAPDH, G6PC, FSHR, FSHMD1A, MTOR, FLT1, FLNA, FOXO1, FH, FGFR4, ABCC2, CLU, CHRNA5, CHRNA3, APOA4, APC, APOF, ANXA2, ANK1, ALOX15B, AGTR2, AGRP, ADRA2B, ADRA1A, ADPRH, ADAM10, ADA, ACP3, ACLY, ACAT1, ACACB, ACACA, ABO, APOBEC1, APOC2, APOD, BCHE, CHI3L1, CBS, CASR, CAST, CAPG, CAMP, TSPO, BRS3, AVP, APRT, ATF3, ARR3, ARNTL, RHOA, ARG2, ARG1, AR, KLK3, HBA1, HIF1A, LAT2, SUMO2, SLC15A1, SIM2, SI, SFTPD, CXCL12, CCL5, SCP2, S100A8, RARRES2, PTPRC, PTPN2, PTEN, PSEN1, PRL, ABCB7, PRKAR1A, PRKAB1, PPARG, POMC, SMPD1, SNCA, HLA-DRB1, SOAT1, VLDLR, UCP3, UCP1, TYRP1, TRPC6, TRAF5, TNXB, TNFRSF1B, TMSB4X, TLR4, TLR2, TJP1, THBS1, TFRC, HNF1A, SULT1E1, STAT3, SSTR4, SPG7, PLA2G2A, PLA2G1B, PIK3CG, PIK3CD, ITIH4, ITGB2, ITGAX, ITGAM, ITGAL, INSR, INS, CXCR2, CXCL8, IL1RN, IKBKB, ID2, HSP90AA1, HSPA5, HSPA4, HSPA2, HSPA1B, HSPA1A, HP, LAMC2, LCT, LGALS3, NEFH, PIK3CB, PIK3CA, TNFRSF11B, NT5E, SLC11A2, NPC1, NOTCH1, NOS2, TRNI, LOX, MTNR1B, MPI, MPG, MMP1, MME, NR3C2, MFAP1, LRP2, LNCARSR
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Megavitamin-B6 Syndrome
Wikipedia
A syndrome marked by sensory neuropathy induced from acute overdose, or chronic supplementation, of vitamin b6 Megavitamin-B 6 syndrome Other names Vitamin B 6 Excess, Hypervitaminosis B 6 , Vitamin B 6 Toxicity [1] [2] Specialty Neurology , toxicology Symptoms Peripheral sensory neuropathy Usual onset Gradual onset with slow progression, in the usual case of chronic vitamin B 6 supplementation. [3] Duration Usually, but not always, resolves within 6 months from cessasation of vitamin B 6 . [4] Causes Chronic vitamin B 6 supplementation, or acute parenteral or oral over‐dosages of vitamin B 6 . [5] [4] [6] [7] [8] Risk factors Impaired kidney function, parenteral nutrition [9] Diagnostic method Serum testing for elevated levels of vitamin B 6 , testing of tendon reflexes , nerve conduction studies and electrodiagnostic testing. [10] [11] Differential diagnosis Progressive mixed sensory or sensorimotor polyneuropathy of undetermined etiology. [12] [13] Treatment Cessation of vitamin B 6 supplementation. [14] Prognosis Symptom progression for 2-6 weeks following cessation of vitamin B 6 , followed by gradual improvement. [14] [4] [15] [16] Megavitamin-B 6 syndrome is a collection of symptoms that can result from chronic supplementation, or acute overdose, of vitamin B 6 . [4] [6] [5] While it is also known as hypervitaminosis B 6 , vitamin B 6 toxicity and vitamin B 6 excess , megavitamin-b6 syndrome is the name used in the ICD-10 . [17] [1] [2] [a] Contents 1 Signs and symptoms 2 Cause 2.1 Potential mechanisms 3 Tolerable upper limits 3.1 Exceptions 4 Diagnosis 4.1 Classification 5 Treatment 6 Prognosis 7 See also 8 Notes 9 References 10 Further reading 11 External links Signs and symptoms [ edit ] The predominant symptom is peripheral sensory neuropathy [23] [4] [6] [24] that is experienced as numbness, pins-and-needles and burning sensations ( paresthesia ) in a patient's limbs on both sides of their body. [14] [4] [13] [15] Patients may experience unsteadiness of gait, incoordination ( ataxia ), [15] [25] [4] [26] involuntary muscle movements ( choreoathetosis ) [10] the sensation of an electric zap in their bodies ( Lhermitte's sign ), [15] a heightened sensitivity to sense stimuli including photosensitivity ( hyperesthesia ), [4] [25] impaired skin sensation ( hypoesthesia ), [27] [14] numbness around the mouth, [27] [3] and gastrointestinal symptoms such as nausea and heartburn . [25] [28] The ability to sense vibrations and to sense one's position are diminished to a greater degree than pain or temperature. [27] [3] Skin lesions have also been reported. [25] [26] [29] [28] Megavitamin-B 6 syndrome may also contribute to burning mouth syndrome . [30] [31] Potential psychiatric symptoms range from anxiety , depression , agitation , and cognitive deficits to psychosis . [32] Symptom severity appears to be dose-dependent (higher doses cause more severe symptoms) [25] and the duration of supplementation with vitamin B 6 before onset of systems appears to be inversely proportional to the amount taken daily (the smaller the daily dosage, the longer it will take for symptoms to develop). [15] [4] [10] [12] [7] It is also possible that some individuals are more susceptible to the toxic effects of vitamin B 6 than others. [4] Megavitamin-B 6 syndrome has been reported in doses as low as 24 mg/day. [33] Symptoms may also be dependent on the form of vitamin B 6 taken in supplements. [24] [34] It has been proposed that vitamin B 6 in supplements should be in pyridoxal or pyridoxal phosphate form rather than pyridoxine as these are thought to reduce the likelihood of toxicity. [24] [35] A tissue culture study, however, showed that all B 6 vitamers that could be converted into active coenzymes (pyridoxal, pyridoxine and pyridoxamine ) were neurotoxic at similar concentrations . [19] [36] Consuming high amounts of vitamin B 6 from food has not been reported to cause adverse effects. [25] [29] [37] Early diagnosis and cessation of vitamin B 6 supplementation can reduce the morbidity of the syndrome. [25] [12] Cause [ edit ] There is a longstanding common misconception that because vitamin B 6 is water-soluble it is therefore harmless. [19] [38] [27] While vitamin B 6 is water-soluble, it has a half-life of 25–33 days and accumulates in the body where it is stored in muscle , plasma , the liver , red blood cells and bound to proteins in tissues. [38] [37] [39] Potential mechanisms [ edit ] The common supplemental form of vitamin B 6 , pyridoxine, is similar to pyridine which can be neurotoxic. ... Institute of Medicine - Food and Nutrition Board 100 mg/day [25] Reviews of vitamin B 6 related neuropathy cautioned that supplementation at doses greater than 50 mg per day for extend periods of time may be harmful and should be discouraged. [44] [45] In 2008, the Australian Complementary Medicines Evaluation Committee recommended warning statements appear on products containing daily doses of 50 mg or more vitamin B 6 to avoid toxicity. [46] The relationship between amount of vitamin B 6 consumed and serum concentrations is not known, some people may have high serum concentrations without symptoms of neuropathy. [13] [47] [48] It is also not known if inhalation of vitamin B 6 while, for example, working with animal feed containing vitamin B 6 is safe. [49] Exceptions [ edit ] High parenteral doses of vitamin B 6 are used to treat isoniazid overdose with no adverse effects found, [4] although a preservative in parenteral vitamin B 6 may cause transient worsening of metabolic acidosis . [4] High doses of vitamin B 6 are used to treat gyromitra mushroom ( false morel ) poisoning, hydrazine exposure and homocystinuria [8] [50] Doses of 50 mg to 100 mg per day may also be used to treat pyridoxine deficient seizures and where patients are taking medications that reduce vitamin B 6 . [14] Daily doses of 10 mg to 50 mg are recommended for patients undergoing hemodialysis . [14] High doses of vitamin B 6 may be effective at suppressing lactation . [29] Outside of rare medical conditions, placebo-controlled studies have generally failed to show benefits of high doses of vitamin B 6 . [28] Reviews of supplementing with vitamin B 6 have not found it to be effective at reducing swelling, reducing stress, producing energy, preventing neurotoxicity, or treating asthma . [27] Diagnosis [ edit ] The clinical hallmark of megavitamin-B 6 syndrome is ataxia due to sensory polyneuropathy .
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Congenital Heart Defect
Wikipedia
It is known that the risk for congenital heart defects is higher when there is a close relative with one. [27] Environmental [ edit ] Known environmental factors include certain infections during pregnancy such as rubella , drugs ( alcohol , hydantoin , lithium and thalidomide ) and maternal illness ( diabetes mellitus , phenylketonuria , and systemic lupus erythematosus ). [28] Alcohol exposure in the father also appears to increase the risk of congenital heart defects. [29] Being overweight or obese increases the risk of congenital heart disease. [5] Additionally, as maternal obesity increases, the risk of heart defects also increases. [30] A distinct physiological mechanism has not been identified to explain the link between maternal obesity and CHD, but both prepregnancy folate deficiency and diabetes have been implicated in some studies. [31] Mechanism [ edit ] Main article: Heart development There is a complex sequence of events that result in a well formed heart at birth and disruption of any portion may result in a defect. [27] The orderly timing of cell growth, cell migration, and programmed cell death (" apoptosis ") has been studied extensively and the genes that control the process are being elucidated. [22] Around day 15 of development, the cells that will become the heart exist in two horseshoe shaped bands of the middle tissue layer ( mesoderm ), [22] and some cells migrate from a portion of the outer layer ( ectoderm ), the neural crest , which is the source of a variety of cells found throughout the body. ... The portions that will become the atria and will be located closest to the head are the most distant from the head. From days 23 through 28, the heart tube folds and twists, with the future ventricles moving left of center (the ultimate location of the heart) and the atria moving towards the head. [32] On day 28, areas of tissue in the heart tube begin to expand inwards; after about two weeks, these expansions, the membranous " septum primum " and the muscular " endocardial cushions ", fuse to form the four chambers of the heart.JAG1, GDF1, ZEB2, MAML3, MTHFR, TBX1, VEGFA, ABCB1, HAND2, RCAN1, MYH6, AHR, POU5F1, HIF1A, AFF4, TGFB2, ABL1, NPPB, STRA6, PITX2, EDN1, HOXA3, KLF4, GP1BB, GNAQ, TRRAP, ECE1, GNA11, EDNRA, UFD1, THAS, MEIS2, EYA1, GATA4, FOLR1, TMEM94, HOXA1, BRD4, IRX5, TRAF7, SLC29A3, CBFB, CAV3, STAG2, NIPBL, NKX2-5, DNMT3A, SAP130, DNMT3B, RXRA, DNMT1, TCOF1, SOX9, SMARCA4, ARID1A, FGFR2, RAI1, PEX5, HYMAI, PEX2, KIF7, INS, PDX1, PIGV, ZFP57, PLAGL1, LMBR1, MID1, CPLANE1, PDE6D, KCNJ11, FAT4, ALG9, FAM149B1, COG7, FRAS1, MED12, RAD51C, SAA1, EBP, CERS1, EIF2AK3, RECQL4, SLC7A7, DCHS1, OFD1, CIT, POGZ, SETBP1, TWIST1, TCTN3, SLC25A24, TBX5, TMEM216, LRP1B, ABCC8, KIAA0753, SMARCB1, STAT3, STX18-AS1, FANCA, FANCC, GCK, GATA3, COL3A1, CHRM3, GLI3, FANCE, FANCD2, PTPN11, GATA6, CHD7, GJA1, CHDH, TAB2, ZIC3, DGCR, NR2F2, MED13L, CITED2, G6PC3, CRKL, HTC2, ALDH2, CREBBP, CRELD1, APOE, FOXC1, TBX20, HEY2, RAF1, COL6A1, DSP, MKKS, NOS3, ELN, NOTCH1, SOX11, ACTB, ACVR1, MTRR, MTHFD1, MTR, SMN2, DGCR8, ACTC1, CDK13, ARSD, DSCAM, MEF2C, CBS, JARID2, RIT1, SSPN, RERE, SOX4, TDGF1, MYH7, NFATC1, DGCR2, TEK, TBX2, HCN4, BMPR1A, HAND1, PDLIM1, VWF, ACTA2, COL6A2, ADA2, FOXP1, ANKRD11, NEK8, KCNE5, GNMT, CCNH, CDH5, RRDX, HPGDS, CACNA1C, B3GAT3, BTF3P11, KANSL1, ANKRD1, REM1, SETD2, PRDM6, SH3PXD2B, PPARGC1A, AOS, POTEF, CPA1, KATNB1, MIR320A, MIR10B, MTHFS, CELF2, MIR10A, NANOGP1, CCR6, ADAMTS13, ZFPM2, PUF60, ZHX2, DAAM1, NCOA6, CECR, ZC3H12D, TBC1D9, MGRN1, SNX8, DICER1, SIRT1, RPGRIP1L, OTUD6B, BRAF, APLNR, PCBP4, SALL4, MIB1, SENP2, FASLG, FBLN7, TMEM135, APOA1, FKRP, FSD1, AIRE, AAGAB, AGRP, SLC2A14, NAA15, CCDC151, MED25, SOX7, JAM3, FSD1L, PPP1R1B, GRK2, TMEM87B, MYLK3, ADAR, SMYD4, MIB2, MRPS22, NTM, PBRM1, SAR1B, CRIM1, KLF13, CCDC114, NPHP4, SEMA3D, BHMT, RIPPLY3, KLHL24, ZNF778, BCOR, ARGLU1, SETD5, SMG9, QRSL1, ATP2B2, MED13, LRRC59, ATP2A2, SHFM5, ADAP2, PAG1, CENPJ, MESP1, SLC50A1, PKD1L1, REC8, HNRNPA1, CPB1, TNFRSF11B, PAPPA, PBX3, PDE2A, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PKD1, PKD2, PKHD1, GAB1, SERPINF2, PLN, PMP22, FXN, MAPK1, MAPK3, PROX1, PTH, PTGS2, PTPN1, FLT4, RAC1, FGFR1, OPN1LW, REN, RFC1, RLF, ROCK1, PAH, OPCML, RYR2, OPA1, GSTP1, HOXA13, IRF8, IFNAR1, IGF1, IGF1R, GRIN2A, GRK5, ISL1, KCNJ6, GNG5, LMNA, LOXL2, LRP2, LRPAP1, SMAD2, SMAD4, MGST1, GLB1, MSX1, MSX2, GJA5, NHS, NNMT, NODAL, NONO, NPPA, GFAP, NTRK3, FGF10, FEN1, FGF19, EGFR, TRPV1, WNT11, SEM1, FGF23, KMT2D, FXR1, USP9X, PHC1, DYSF, TNFSF11, DNTT, HYAL2, TNFRSF11A, TNFRSF10D, GTF2H3, BANF1, APLN, FOXH1, BAZ1B, ARTN, TRDMT1, ASH2L, TBX18, DNAH8, MED23, ACE, CST3, RGS6, CPS1, MEGF8, UBE2A, SCN1A, EIF4E, SCN5A, SH3BGR, SHMT1, SLC2A3, SLC6A4, SLIT3, SLN, SMARCD3, SMARCE1, SOD1, SOS1, SOX12, FABP3, SUV39H1, TAF1, MAP3K7, F3, EPO, TBX3, ENO1, NR2F1, EMD, TGFBR1, TGFBR2, TLR4, TNF, TNXB, TPM1, TSHR, TNFRSF10C
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Fatty Liver Disease
Wikipedia
Magnetic resonance elastography , a variant of magnetic resonance imaging, is investigated as a non-invasive method to diagnose fibrosis progression. [28] Histological diagnosis by liver biopsy is the most accurate measure of fibrosis and liver fat progression as of 2018. [6] Treatment [ edit ] Decreasing caloric intake by at least 30% or by approximately 750–1,000 kcal/day results in improvement in hepatic steatosis. [6] For people with NAFLD or NASH, weight loss via a combination of diet and exercise was shown to improve or resolve the disease. [6] In more serious cases, medications that decrease insulin resistance, hyperlipidemia , and those that induce weight loss such as bariatric surgery as well as Vitamin E have been shown to improve or resolve liver function. [6] [13] Bariatric surgery , while not recommended in 2017 as a treatment for fatty liver disease (FLD) alone, has been shown to revert FLD, NAFLD, NASH and advanced steatohepatitis in over 90% of people who have undergone this surgery for the treatment of obesity . [6] [29] In the case of long-term total parenteral nutrition induced fatty liver disease, choline has been shown to alleviate symptoms. [30] [31] [32] This may be due to a deficiency in the methionine cycle . [33] Epidemiology [ edit ] NAFLD affects about 30% of people in Western countries and 10% of people in Asia. [2] In the United States rates are around 35% with about 7% having the severe form NASH. [1] NAFLD affects about 10% of children in the United States. [1] However, the NAFLD is observed in up to 80% of obese people, 35% of whom progress to NASH, [34] and in up to 20% of normal weight people, [8] despite no evidence of excessive alcohol consumption. ... Retrieved 7 November 2018 . ^ a b c d e f Singh, S; Osna, NA; Kharbanda, KK (28 September 2017). "Treatment options for alcoholic and non-alcoholic fatty liver disease: A review" . ... PMID 30106985 . ^ Singh, Siddharth; Venkatesh, Sudhakar K.; Loomba, Rohit; Wang, Zhen; Sirlin, Claude; Chen, Jun; Yin, Meng; Miller, Frank H.; Low, Russell N.; Hassanein, Tarek; Godfrey, Edmund M.; Asbach, Patrick; Murad, Mohammad Hassan; Lomas, David J.; Talwalkar, Jayant A.; Ehman, Richard L. (28 August 2015). "Magnetic resonance elastography for staging liver fibrosis in non-alcoholic fatty liver disease: a diagnostic accuracy systematic review and individual participant data pooled analysis" .APOB, LDLR, LEP, SIRT1, PPARA, CYP2E1, UCP2, PTEN, CAT, CYP19A1, ATP7B, PNPLA3, GPT, TNF, MTTP, PPARG, APOE, NFE2L2, SREBF1, FGF21, TLR4, MIR34A, PPARD, SERPINE1, LEPR, NR1H3, ATF4, NR1H4, NR0B2, XBP1, NR1I2, PLIN2, CCL2, SOD1, SLC13A5, MIR17, ANGPTL4, SIRT7, MIR150, SLC2A2, PON1, MIR384, POMC, FOXA1, RIPK3, CXCL8, IFNA2, GPX1, MIR219A1, GPX4, HADHB, HAS3, F2, MIR197, HHEX, DDIT3, SERPINA6, MIR134, MIR139, MIR183, CYP1B1, INS, COL3A1, MIR154, MAT1A, MIR10B, MYC, CEBPB, NEIL1, F2R, CNDP2, MIR148B, MIR320A, BIRC3, MIR503, MIR449C, MIR410, SOD2, GPD1L, NREP, MIR542, DHRS7, STS, ADIPOQ, SLC22A8, ADK, PSMA5, PTMA, CYP7B1, TF, CYCS, NR1D1, SCD, IL6, PPARGC1A, INSR, DGAT2, G6PC, PTGS2, IL10, INSIG1, IL1B, GCK, IL18, ABCA1, MC4R, LGALS3, NQO1, CTSB, HSPA5, ACACA, IL13RA2, CA3, MFN2, PLAU, RELA, ATP5IF1, ACACB, OTC, LRP6, NFKB1, SLC27A4, ABCC2, FIS1, SUOX, TXN, CPS1, IKBKG, OPA1, ABCC3, HNF4A, CIDEC, CPT1A, HFE, PCSK9, LIPA, LIPE, AKT2, PLIN1, BSCL2, SLC25A13, PNPLA2, ABHD5, HNRNPA1, PCK1, SLC22A5, PRDM16, PCK2, ZMPSTE24, HNF1B, ABCG5, LMNA, AGPAT2, CAV1, CAVIN1, CBS, ACADVL, HNRNPA2B1, LMNB2, SLC40A1, TARS2, CLPB, ACAD9, ALDOB, NSMCE2, VCP, CEP19, KCNAB2, XRCC4, MRPS7, ALMS1, DGUOK, DDOST, LDLRAP1, HSD17B4, CNBP, COX15, MLXIPL, GPD1, PHKG2, PHKA2, PGM1, PMM2, LYRM4, POLD1, CD36, BCS1L, RMND1, TM6SF2, TRAPPC11, ATP6AP1, RERE, PTRH2, ABCG8, SKI, LARS1, MARS1, SAR1B, HADH, SLC17A5, FARSB, ETFA, GABRD, FBP1, FOS, FASN, ACADL, ETFDH, POLR3A, ETFB, TMEM199, ACADM, FABP1, IFNL3, GGTLC1, PRKAA1, GGT1, GCG, LOC102724197, PRKAB1, PRKAA2, GGT2, GGTLC3, GGTLC4P, DPP4, GGTLC5P, CRP, GABPA, AHSG, ALB, MBOAT7, SERPINA1, MIR122, GCKR, ALDH2, SIRT6, FETUB, EGFR, APOC3, CNR1, SHBG, FBL, STAT3, PIK3CG, PIK3CA, PIK3CD, PIK3CB, APOA1, TGFB1, AHR, APRT, GLP1R, ADIPOR1, EPO, ERN1, MAP3K5, CHPT1, KRT18, SLC5A2, XPR1, MFAP1, VDR, G0S2, TFEB, LCN2, DGAT1, SREBF2, PPP1R3B, APOD, EGR1, FLII, SCP2, CEBPA, NAMPT, LINC01194, AQP7, ANGPTL8, FOXO1, CETP, MUC1, ESR1, FGL1, NR3C2, AFP, NLRP3, IKBKB, NRG4, FFAR1, LPIN1, LYPLAL1, SIRT3, MLYCD, HIF1A, HMGB1, AKT1, GH1, GFER, FGF19, TRPV1, IGF1, RETN, AKR1B1, KHK, ACLY, CPT2, HAVCR1, CES2, PRL, BHMT, MAP2K1, MAPK8, TP63, TNFRSF1A, TFF3, CREG1, PPID, HNRNPA1P10, PEMT, BDNF, HDAC3, ZGLP1, POSTN, LINC01672, SELENBP1, MAP3K7, USP10, LPAR2, AIRE, MIR33A, SMUG1, ACOX1, CCL4, CASP8, NR1I3, VLDLR, SMPD1, FAS, UCP1, MTCO2P12, ADAMTS13, STAM, SFRP5, SETMAR, CCR2, NUDT11, FGF23, ARID1A, ANGPTL3, BCAP31, PRMT3, CXCR6, EIF2AK3, CCND1, RBP4, TP53, RARA, PPIF, ELANE, MAS1, GIP, KLF6, CD44, C1QTNF5, MTOR, G6PD, IRF3, MAP3K8, RTL1, ACE2, COX2, DNASE2, CPT1B, DECR1, HGF, NR4A1, TBL1XR1, MIR141, HMOX1, EHMT1, GPR119, CXCL16, CNTF, IDH2, IGLL1, IFNG, NR3C1, EPAS1, IFNA13, HSD17B13, CYBB, IFNA1, TNFRSF11B, GHSR, HTR2A, E2F1, CMKLR1, FAT1, ADIPOR2, P2RX7, CD40LG, MOGAT1, SIK2, SPPL3, TWIST2, CRTC1, MYDGF, BRD4, DDAH1, ZNF300, ZBTB20, TRPC4AP, MTG1, FANK1, TIPARP, POC1A, NOCT, BAMBI, SLC25A47, BRD1, SDF2L1, SLC7A11, OR10J5, NUP62, NEAT1, NUS1, CD2AP, HSPA12A, PPP1R15A, NADK2, SULF1, NES, CCDC80, PNPLA6, PAQR3, PGRMC1, PPM1K, HPSE, IQGAP2, SLC16A11, PAQR7, SGMS2, CERS1, GPBAR1, EBP, ADIPQTL3, JAZF1, CELF1, KHDRBS1, MLKL, IGF2BP2, TXNIP, ERLIN1, SORBS1, FNDC5, ERFE, CERS6, DUSP12, SARM1, PPARGC1B, PHLPP2, FBXO3, KDM4B, SIRT2, S100A16, MGLL, SESN3, USP18, OCLN, RAB40B, APOC4-APOC2, APCDD1, SIK1, NUS1P3, CBSL, LARP1BP2, RNU6-392P, SLC27A5, FERMT2, CKAP4, IL33, LCOR, TBL1Y, TERF2IP, AGGF1, PRM3, NMRK1, RETSAT, TRPV4, ALOXE3, EGLN1, DLL4, CCHCR1, TOLLIP, PLIN5, CARD6, FAM3B, ELOVL5, MIR149, MIR132, SMOC2, ARID4B, GHRL, MIR130A, TMBIM1, ATG3, MID1IP1, CWF19L1, LAPTM4B, EIF2AK4, MIR200C, SPHK2, ACKR3, SMURF1, MIR203A, MIR21, CRTC2, MIR30C1, MIR30C2, GPAM, CMAS, SUGP1, MIR192, CCAR2, ACSS2, ACOT13, HAMP, NLRP2, MIOX, RBM38, CREBZF, DEPTOR, RTRAF, MIR367, REPIN1, TBK1, MFRP, SETD2, KLF15, MCTS1, CHKB-CPT1B, MALAT1, IMMP2L, ASPG, MCAT, RABGEF1, SYVN1, GNMT, INTU, APOM, IRF2BP2, IRGM, ZGPAT, RNU1-1, FFAR4, THEM5, HM13, SPX, MIR378A, NPC1L1, IL25, MIR423, PINK1, FUNDC2, DUSP26, CCL4L1, GOLM1, PLEKHO1, FTO, LEF1, DCTN4, AGPAT1, NLRX1, STEAP4, PPP1R3G, CXADRP1, DELEC1, DHDDS, CERS2, PIF1, SNX10, MIR24-1, SSTR4, ATG7, IGF2, MCHR1, GPR35, GPR42, CXCL1, GTF2H1, GZMB, HADHA, HDAC1, FOXA2, HOXD13, HSD11B1, HSF1, HSPA1A, HSPA1B, ICAM1, GOT2, GNA12, GLUL, FLT1, EIF2S1, ENO2, ESRRA, FABP5, PTK2B, FOXO3, FN1, GLRX, FPR1, GC, GDF1, MSTN, GDNF, GIPR, IFNB1, IGFBP1, NM, IGFBP2, LIM2, LNPEP, LPL, LRP1, CYP4F3, LTF, MCL1, MEN1, MET, MMP9, MPST, MSRA, MT1B, MTHFR, ND3, LECT2, LBP, LAMP1, CXCL10, IGFBP7, IL1A, IL6ST, CXCR2, IL15, IL17A, IRF6, LALBA, IRS1, ITGA1, ITGB2, ITPR2, JAK2, KDR, EDNRA, ATN1, DNMT1, DBP, AOX1, APOC1, APOC4, AQP9, ARNTL, ARR3, ASS1, ATF3, AVP, BCL2A1, CFB, BGLAP, CEACAM1, BID, BLVRA, ANXA6, ANPEP, ANGPT1, ADRB3, ACVR2B, ADH1B, PARP1, ADRA1A, ADRA2B, ADRB2, AGT, AMPD2, AGTR1, AHCY, ABCD1, ALOX12, ALOX5, AMPD1, BMP4, BNIP3, BRS3, CTNNB1, CS, MAPK14, CSF3, NCAN, CTAA1, CTF1, CTSD, CCR7, CXADR, CYP3A4, CYP7A1, CYP8B1, CYP17A1, DAPK3, CP, CMA1, CAPN2, CD68, CASP3, CASR, CD5L, CD14, ENTPD1, CD40, CD69, CLTC, CDK4, CDKN2A, CDKN2B, CES1, CHKA, CHUK, MTRR, NNMT, STK25, CCN4, NCOA3, NRIP1, KDM5D, FZD7, SOAT2, NCK2, OGT, PIK3R3, BHLHE40, STC2, IRS2, BECN1, MBTPS1, TNFSF14, GGH, SLC7A5, KMT2D, ST8SIA4, TSN, NR2E1, TM7SF2, TPH1, NR2C2, TRAF3, HSP90B2P, UBE3A, ZFP36, UGCG, UGT2B4, USP4, UVRAG, VDAC1, VEGFA, CFLAR, APLN, NOS1, SQSTM1, HDAC5, PQBP1, CTDSP2, LRPPRC, PSME3, TRIM13, TRIB1, PLIN3, FSTL3, SYCP2, PRMT5, FAM3C, VAV3, CAP1, CREB3, SRA1, GAB2, KEAP1, CD163, EIF2B5, MBD2, SOCS3, MYOM2, HACD1, IL32, GLP2R, IP6K1, FADS2, CCL4L2, H6PD, CLOCK, NOS1AP, KMT2B, TLR3, TIMP3, TFRC, TFAM, PKM, PKNOX1, PLG, PLTP, PTPA, PRKAR1A, PRKD1, MAP2K7, PRTN3, PSMD10, PTBP1, PTN, PTPN1, PTPN6, RAP1A, PIN1, SERPINB6, PEX1, NR4A2, NOS2, NOTCH1, NPC1, NPPC, NTS, NUCB2, OPCML, SERPINF1, P2RY2, PAEP, PDC, PDK4, ENPP1, PDZK1, RARRES1, RARRES2, RBL1, STAR, SPG7, SPINK1, SPINT1, SPP1, SRI, ST14, STK11, SNAP25, TAC1, ADAM17, TBL1X, HNF1A, TCF7L2, TDGF1P3, SP1, SNAI1, REN, S100A10, RENBP, RLN2, ROCK1, RPE65, SORT1, S100A4, CCL5, SLC16A1, SELE, SGK1, SLC1A2, SLC2A4, SLC3A2, SLC4A1, H3P10
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Prader–willi Syndrome
Wikipedia
These genes are located on chromosome 15 located in the region 15q11-13. [28] [29] [30] [31] This so-called PWS/AS region in the paternal chromosome 15 may be lost by one of several genetic mechanisms, which in the majority of instances occurs through chance mutation. ... "Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile". Birth Defects Orig. Artic. Ser . 28 (1): 99–104. PMID 1340242 . ^ a b c Cassidy SB (1997). ... Archived from the original on April 28, 2015 . Retrieved June 18, 2015 . ^ Online Mendelian Inheritance in Man (OMIM): Prader-Willi Syndrome; PWS - 17627 ^ de los Santos T, Schweizer J, Rees CA, Francke U (November 2000).MAGEL2, SNRPN, NDN, MKRN3, NPAP1, IPW, PWAR1, SNORD116-1, MKRN3-AS1, PWRN1, SNORD115-1, MRAP2, HERC2, HTR2C, CEP63, CENPJ, SOS1, PTPN11, RIT1, KRAS, RAF1, LZTR1, ATR, GH1, UBE3A, GABRB3, SNORD116@, UROD, SNURF, LEP, SNORD14D, SNORD14B, SNORD35B, SNORD14E, SNORD14C, GHRL, SNORD15A, IGF1, HCRT, GHR, SLC52A2, OCA2, F2R, NR1I2, ADIPOQ, PCSK1, ATP10A, POMC, SETDB1, IL6, GHRH, SNHG14, MAGED1, PWAR5, DMD, BEST1, ZNF274, FMR1, GNAQ, GLP1R, EHMT1, STOML3, HSPG2, STS, RASA1, TNFSF11, CRP, SLC6A4, LEPR, MARK2, TNFRSF11B, EHMT2, METAP2, NHLH2, GHSR, GABRA5, SOST, SIM1, PIK3CA, DKK1, PROCR, PADI4, EID1, RNF13, CIT, ABCB6, GREM1, CYFIP1, ACADS, ADIPOR1, RCBTB1, ZGLP1, MIR23A, MIR122, GOLGA8EP, RBMY1D, ENHO, PWARSN, RBMY2DP, GOLGA6A, WHAMMP3, SNORD109B, SNORD109A, NIPA1, TUBGCP5, LMLN, TMPRSS13, NIPA2, DHDDS, POM121, ADIPOR2, ANKRD36B, CHPT1, PRDM9, RETN, NSMCE3, ANGPTL8, ZNF654, DHX40, SMN2, PREPL, MSMB, MECP2, STMN1, HTR2B, HTC2, NR4A1, HDC, GCG, GAPDH, GABRG3, FRAXA, FMO2, EPHB1, EFNB2, DIO3, DAZ1, DAG1, CNR1, CD36, BTF3P11, BRAF, BGLAP, BDNF, BCR, AVP, ARSD, ARSA, AR, APOC3, ALCAM, MEN1, MST1, DLK1, CYTB, SCG2, VEGFA, TYR, TWIST1, TSPY1, TNF, THAS, STATH, STAR, AGRP, SMN1, SLC5A2, CCL5, SAG, RBMY1A1, PYY, PRNP, PRL, PRKCA, PTPA, PML, PIK3CG, PIK3CD, PIK3CB, PGC, PDPK1, NPY2R, NPY, HNRNPM, FMR1-IT1
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Lujan–fryns Syndrome
Wikipedia
MED12, or mediator of RNA polymerase II transcription, subunit 12 homolog of S. cerevisiae , is one of several subunits in the mammalian mediator complex , which regulates RNA polymerase II during mRNA transcription . [28] [29] The Mediator complex is required for polymerase II transcription and acts as a bridge between the polymerase II enzyme and different gene-specific transcription factors. ... American Journal of Medical Genetics . 28 (2): 267–274. doi : 10.1002/ajmg.1320280202 . ... "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency" . Journal of Medical Genetics . 28 (4): 267–273. doi : 10.1136/jmg.28.4.267 .
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Sudden Infant Death Syndrome
Wikipedia
SIDS rate for births at 37–39 weeks of gestation was 0.73/1000, while the SIDS rate for births at 28–31 weeks of gestation was 2.39/1000. [35] Anemia has also been linked to SIDS [37] (note, however, that per item 6 in the list of epidemiologic characteristics below, extent of anemia cannot be evaluated at autopsy because an infant's total hemoglobin can only be measured during life. [38] ). ... (eds.), "Sudden Infant Death Syndrome: History" , SIDS Sudden Infant and Early Childhood Death: The Past, the Present and the Future , Adelaide (AU): University of Adelaide Press, ISBN 978-1-925261-67-7 , PMID 30035955 , retrieved 28 September 2020 ^ "Ways To Reduce the Risk of SIDS and Other Sleep-Related Causes of Infant Death" . ... Centers for Disease Control and Prevention . 28 August 2015. Archived from the original on 17 April 2016 . ... The American Journal of Forensic Medicine and Pathology . 28 (1): 69–72. doi : 10.1097/01.paf.0000220934.18700.ef . ... "Absolute change in cause-specific infant mortality for blacks and whites in the US: 1983–2002". Tion Research and Policy Review . 28 (6): 817–851. doi : 10.1007/s11113-009-9130-0 .SLC6A4, SCN5A, CAV3, KCNJ8, ACADM, MAOA, PHOX2B, AQP4, FEV, SCN1B, CHRNA7, CHRNB2, VHL, KCNQ1, ADCYAP1, IL10, IDS, KCNH2, IL6, LOC110806262, KLF6, IL1B, PSMG1, RYR2, DUSP2, ADCYAP1R1, SLC9A3, IL1A, IL1RN, GSTT1, C4B, TAC1, TNF, TGFB1, HSPD1, TH, SLC6A3, TSPYL1, VEGFA, CASP3, CHAT, VIPR1, CXCL8, GPD1L, MZB1, TPH2, MYD88, KCNK3, CYP2C9, CYP2C19, GSTM1, CYP2C18, HCRT, G6PC, FUT2, SLC5A5, C4A, CYP2D6, UCP1, DMBT1, EPHX2, TLR4, FGFR3, FMO3, SLC22A5, TACR1, FOS, SLC37A4, SULT1A1, SSTR2, SOD2, SNTA1, VIP, HSP90AA1, TRPV1, HSPA14, LOC107987479, MALAT1, PTF1A, OR2AG1, CYP2B6, PRRT2, AP1AR, TNFRSF17, HPGDS, SFTPD, B3GAT1, SETBP1, CYP2C8, CD160, SRA1, NOS1AP, ZBED1, BDNF, SI, SEA, HSPA4, APOE, FAS, CD14, KCND3, KCNA5, KCNA4, IREB2, HADHA, CHRNA4, IL4, HIF1A, HMOX1, IGHMBP2, IFNG, IFNA13, IFNA1, HSPA1B, HTR2A, HTR1A, HTC2, KCNJ10, ATF4, CASP9, PRF1, SCN4A, GFI1, SCN1A, GJA1, RPS27A, PRNP, PRKCB, PRKCA, POMC, CYP4F3, PIK3CA, P2RY1, CYP1A1, TRNL1, ND1, MIF, MBL2, GNB3, CPT1A
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Human Papillomavirus Infection
Wikipedia
Disease HPV type Common warts 2, 7, 22 Plantar warts 1, 2, 4, 63 Flat warts 3, 10, 28 Anogenital warts 6, 11, 42, 44 and others [18] Anal dysplasia (lesions) 16, 18, 31, 53, 58 [19] Genital cancers Highest risk: [18] 16, 18, 31, 45 Other high-risk: [18] [20] 33, 35, 39, 51, 52, 56, 58, 59 Probably high-risk: [20] 26, 53, 66, 68, 73, 82 Epidermodysplasia verruciformis more than 15 types Focal epithelial hyperplasia (mouth) 13, 32 Mouth papillomas 6, 7, 11, 16, 32 Oropharyngeal cancer 16 Verrucous cyst 60 Laryngeal papillomatosis 6, 11 Warts [ edit ] Papilloma A sample DNA test report for HPV Genotype from a laboratory Skin infection (" cutaneous " infection) with HPV is very widespread. [21] Skin infections with HPV can cause noncancerous skin growths called warts (verrucae). ... A wide variety of HPV types can cause genital warts, but types 6 and 11 together account for about 90% of all cases. [27] [28] However, in total more than 40 types of HPV are transmitted through sexual contact and can infect the skin of the anus and genitals. [3] Such infections may cause genital warts, although they may also remain asymptomatic. ... HPV can survive for many months and at low temperatures without a host; therefore, an individual with plantar warts can spread the virus by walking barefoot. [28] HPV is a small double-stranded circular DNA virus with a genome of approximately 8000 base pairs. [34] [101] The HPV life cycle strictly follows the differentiation program of the host keratinocyte .CASP8, VAMP7, CCNA1, TP53, IL10, PDXP, HLA-DRB1, CDKN2A, H3P10, HLA-G, EGFR, TLR9, GSTM1, TNF, RASSF1, BCL2, CCND1, MDM2, RBM45, IL6, MBL2, FHIT, TMC8, PSMA1, SLPI, PIK3CA, KRAS, SERPIND1, SULT2A1, CYCSP38, ZAP70, IL17A, REG3A, PDAP1, MIR21, FOXP3, BRAF, HLA-DQB1, ESR1, GSTT1, TERT, APOBEC3B, ASAP1, CD274, MTPAP, MKI67, HLA-C, PYCARD, ACP3, PIK3CB, PIK3CD, STIL, STS, ASAP2, MRPS30, PAPOLA, PIK3CG, PMEL, TERC, TGFB1, TUSC2, SEC14L2, SH3GL2, USO1, STAT3, TP73, MIB1, MGMT, PTEN, NXF1, PTGS2, IFNA1, MLH1, IFNA13, IL1B, PGR, PAX1, TMC6, HPGDS, MTHFR, FLNB, CXCL8, ERBB2, CDKN1A, ARHGAP24, AKT1, ANXA2, CTNNB1, MIR34A, MRC1, PCNA, CDH1, NT5E, NFKB1, GORASP1, COX2, WNK1, SMUG1, MALAT1, KRT19, CYP1A1, KIR3DL1, DAPK1, JUN, IL18, DEFB1, CCR5, CD68, IL2, PML, HSP90B1, XRCC1, MTCO2P12, TLR4, TLR3, CXCR4, SYT1, APC, RHOH, DEFB4B, HSPB3, CD163, CCL2, RELA, CCR2, CALR, PSMB8, TLR7, VEGFA, DEFB4A, FOSL2, HLA-E, HSPB2, GEM, HLA-DQB2, HLA-DQA1, GNAO1, SLC12A9, FGFR2, HRAS, HSPB1, MEG3, HGF, FGFR4, DOCK8, PDLIM7, ARTN, CD83, VTCN1, PLAA, RHBDL1, MTA1, ISG15, NCR1, AIM2, GGTLC4P, ZNF516, PPIP5K1, PDCD6IP, KIF20A, B3GNT3, YAP1, HOXB13, TCHP, CIB1, ZNRD2, LIMD1, INTS2, CEMIP, MIR944, VIM, WNT11, H3P23, LOC110806263, CLSPN, RINT1, APOBEC3G, LOC102723971, RBM25, DEK, TFPI2, THRIL, NR0B2, CIP2A, CUL2, IFNL4, TP63, ARRDC3, SOCS1, COMMD3-BMI1, BECN1, MICA, CFLAR, FCGBP, ARHGEF7, MAGI2-AS3, TMED7-TICAM2, GGT2, TNRC6C-AS1, SPINT2, RETN, GGTLC3, LYPD5, IL17RA, BRMS1, ATAD3A, PPP1R14B, HSPB6, MLH3, TICAM2, SALL3, DHDH, PGPEP1, STING1, DGCR8, EVC2, IL19, MIRLET7C, IFNL3, DEFB104A, OR2AG1, ASCC1, TMED7, RBMX2, METTL9, PLCE1, REV1, APOBEC3A, MARVELD2, UVRAG, WT1-AS, PISD, MIR122, DCTN6, MIR27A, GGTLC5P, TLR8, MIR363, RNPS1, BTG3, IL33, DEFB104B, LINC01191, MIR93, RAB40B, CKAP4, SLC52A3, MIR30C2, CHEK2, AMACR, ANTXR2, POLI, ZNF395, MIR203A, DNAJA4, MIR146A, SMG1, MYCBP2, LPIN1, RRS1, BRD4, MTREX, MIR126, MIR145, S100A10, TYMS, FUS, FOSB, FOS, FLG, FOXC2, FGFR1, FGF3, PTK2B, ERBB4, ERBB3, EP300, ENO1, E2F1, DUT, DPH1, DNMT3B, DNMT1, NQO1, MTOR, GGT1, TSG101, GHRHR, IGFBP3, IFNG, IFNB1, IFNA2, IFI27, IFI16, ID1, TNC, HSPD1, HOXB2, HMGB1, HLA-A, GSTP1, GSTM2, SFN, GNAS, CBLIF, AKR1C1, DCT, CYP2E1, CYP1B1, CA2, PTTG1IP, BUB1B, BMI1, BAX, BAG1, ATR, ATM, FAS, ANXA5, ANXA3, JAG1, AGRP, AGER, AGA, PARP1, ADH1C, CA9, SLC25A20, CAV1, CDKN2B, CTSB, CSF2, CRP, CLCN3, CHEK1, CFTR, CDKN3, CDKN1B, ENTPD1, CDK9, CDK6, CDK4, CDC25A, CDK1, CD63, CD40, IL1A, IL4, CXCL10, PTPN11, SDCBP, SDC1, CCL22, CCL20, CCL11, CCL5, SERPINB4, SERPINB3, S100B, ACTG1, S100A1, RRBP1, RPE65, RP9, RNASEL, RB1, RARA, CXCL12, SELE, SRSF2, TDO2, TPT1, TNFRSF1B, TLR2, TIMP3, TIAM1, THBS1, TFRC, TAP2, SOS2, TAP1, SYK, STK11, ST2, SPP1, SPARC, SOX2, MOK, PTPN6, ITGA6, PTHLH, MMP8, MMP2, CXCL9, MIF, MGP, MFGE8, MCL1, SMAD3, LIG4, LCN2, STMN1, KLRD1, KLRC2, KIT, CD82, JUND, JUNB, MMP9, MMP11, MMP12, SERPINB2, PTCH1, PSMD9, PSMB9, PRNP, POLD1, PEG3, PECAM1, OGG1, MPG, NFKBIA, NELL1, MYC, MUTYH, MT2A, MSH2, MRE11, H3P40
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Advanced Sleep Phase Disorder
Wikipedia
"Genetic Basis of Human Circadian Rhythm Disorders" . Experimental Neurology . 243 : 28–33. doi : 10.1016/j.expneurol.2012.07.012 . ... "Genetic insights on sleep schedules: this time, it's PERsonal" . Trends in Genetics . 28 (12): 598–605. doi : 10.1016/j.tig.2012.08.002 .
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Ataxia With Oculomotor Apraxia Type 1
Gene_reviews
Two Italian adults with cerebellar ataxia were reported having disease onset at ages 28 and 29 years [Criscuolo et al 2004]. ... In two Italian adults, homozygous p.Pro206Leu and p.His201Gln pathogenic variants were associated with late-onset AOA1 (ages 28 and 29 years). In contrast, in Japanese individuals with AOA1, the p.Pro206Leu pathogenic variant is associated with earlier onset (age 10 years).
