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Restless Legs Syndrome
Wikipedia
People with uremia receiving renal dialysis have a prevalence from 20% to 57%, while those having kidney transplant improve compared to those treated with dialysis. [88] RLS can occur at all ages, although it typically begins in the third or fourth decade. [57] Genome‐wide association studies have now identified 19 risk loci associated with RLS. [89] Neurological conditions linked to RLS include Parkinson's disease , spinal cerebellar atrophy , spinal stenosis , [ specify ] lumbosacral radiculopathy and Charcot–Marie–Tooth disease type 2. [80] History [ edit ] The first known medical description of RLS was by Sir Thomas Willis in 1672. [90] Willis emphasized the sleep disruption and limb movements experienced by people with RLS. ... The Journal of Clinical Psychiatry . 75 (7): e679–94. doi : 10.4088/jcp.13r08692 . PMID 25093484 . ^ St. ... Neurotherapeutics (Review). 9 (4): 776–90. doi : 10.1007/s13311-012-0139-4 . ... PMID 22923001 . ^ Neiman, J; Lang, AE; Fornazzari, L; Carlen, PL (May 1990). ... Archives of Internal Medicine . 165 (11): 1286–92. doi : 10.1001/archinte.165.11.1286 .BTBD9, MEIS1, PTPRD, TF, POMC, DRD3, MAP2K5, SNCA, PRKN, MFN2, LRRK2, PARK7, FTL, HTRA2, VPS13C, DNAJC6, ATXN7, LINC02086, PINK1, UCHL1, RLS1, CASC16, PODXL, MYT1, LINC02520, LINC01478, CCDC148, SKOR1, HMOX1, TOX3, DRD2, VDR, MAOA, RLS3, CHM, FXYD1, TH, CHMP2B, SLC11A2, ATXN1, HAMP, GABRR3, RLS4, RLS6, NTS, ADH1B, HMOX2, CRP, GABRA4, FXN, EEF1A2, DMRT1, KNG1, IL1B, HFE, MPZ, MAOB, NOS1, ATXN3, ZC4H2, MIXL1, REEP1, AVP, PCDHA3, MOCOS, FAT2, GABRR2, NANS, SLC25A37, ATL1, PYCARD, GCH1, FMR1, C3, TRAPPC6B, CAD, TMPRSS6, DRD4, GLO1, C9orf72, DBP, MIR122, LINC00423, MIR330, RLS2, CPT1B, CHKB, RLS5, KCTD18, NPAS2, SPATS2L, MCF2L, NKX2-1, TFRC, IL17A, TRA, AFP, SLC6A3, SLC1A2, L1CAM, ATXN2, LRP2, TSPAN31, REN, LY6E, SMCP, SERPINA1, TNF, TYMS, IGLC2, SCAF11, CNTN3, HNMT, ZEB2, IGHA1, LITAF, SLC9A3R2, APLN, UTRN, RNMT, GEMIN2, ATRN, FGF23, NR4A3, IGKC, TBP
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Neuro-Behçet's Disease
Wikipedia
It is suggested that the pathogenesis of the two types are probably different.[3] Statistics indicate that approximately 75% (772 of 1031) BD patients advanced to parenchymal NBD while 17.7% (183 of 1031) of BD patients advanced to non-parenchymal NBD. ... The reason is that the mechanisms of cerebral venous thrombosis in BD are still poorly understood. Some doctors use anti-coagulants to prevent a clot. On the other hand, some doctors only give steroids and immunosuppressants alone. [8] [9] Epidemiology [ edit ] In one study of 387 Behçet's disease (BD) patients that has been done for 20 years, 13% of men with BD developed to NBD and 5.6% of women developed to NBD. ... "Neurological complications of Behçet's syndrome" . Brain . 122 (11): 2183–94. doi : 10.1093/brain/122.11.2183 . ... J Neurol Sci . 170 (2): 105–11. doi : 10.1016/s0022-510x(99)00165-3 . PMID 10561525 . S2CID 24943648 . ^ Barros R, Santos E, Moreira B, et al.
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Clostridioides Difficile Infection
Wikipedia
This increases to 40% and 60% with subsequent recurrences. [87] Epidemiology [ edit ] C. difficile diarrhea is estimated to occur in eight of 100,000 people each year. [88] Among those who are admitted to hospital, it occurs in between four and eight people per 1,000. [88] In 2011, it resulted in about half a million infections and 29,000 deaths in the United States. [4] Due in part to the emergence of a fluoroquinolone -resistant strain, C. difficile -related deaths increased 400% between 2000 and 2007 in the United States. [89] According to the CDC, " C. difficile has become the most common microbial cause of healthcare-associated infections in U.S. hospitals and costs up to $4.8 billion each year in excess health care costs for acute care facilities alone." [90] History [ edit ] Ivan C. ... The American Journal of Gastroenterology . 110 (4): 588–94. doi : 10.1038/ajg.2015.90 . PMID 25823766 . ... The Surgical Clinics of North America . 94 (6): 1335–49. doi : 10.1016/j.suc.2014.08.006 . ... Archives of Internal Medicine . 170 (9): 784–90. doi : 10.1001/archinternmed.2010.89 . ... Annals of Internal Medicine . 157 (12): 878–88. doi : 10.7326/0003-4819-157-12-201212180-00563 .RNF165, ANKRD27, CXCL8, NAP1L1, NAPSA, TRMO, AZI2, NAA25, NCKAP1, TAB3, IKZF1, ACOT8, CACNG4, MTFMT, ACAD8, FYN, SYNM, NT5C2, SLC9A6, SUMF2, CRYL1, A1CF, IL22, TSPYL2, ROPN1L, IL33, CDAN1, ASPM, COPD, H6PD, ABR, ATG5, AGA, ALAS2, ARSB, ASIP, ASPA, ATP12A, ATP4A, C3, CDKN3, MAP3K8, G6PD, GLUD1, GZMM, IFNG, IL4, CXCL10, LEPR, MAX, MIF, CCL3, SLC9A3, TGFBI, UGDH, UBL4A, XPR1
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Lung Cancer
Wikipedia
As more damage accumulates, the risk for cancer increases. [24] Smoking [ edit ] Tobacco smoking is by far the main contributor to lung cancer. [4] Cigarette smoke contains at least 73 known carcinogens , [25] including benzo[ a ]pyrene , [26] NNK , 1,3-butadiene , and a radioactive isotope of polonium – polonium-210 . [25] Across the developed world, 90% of lung cancer deaths in men and 70% of those in women during the year 2000 were attributed to smoking. [27] Smoking accounts for about 85% of lung cancer cases. [7] A 2014 review found that vaping may be a risk factor for lung cancer but less than that of cigarettes. [28] Passive smoking – the inhalation of smoke from another's smoking – is a cause of lung cancer in nonsmokers. ... This stage group assists with the choice of treatment and estimation of prognosis. [81] Stage group according to TNM classification in lung cancer [1] TNM Stage group T1a–T1b N0 M0 IA T2a N0 M0 IB T1a–T2a N1 M0 IIA T2b N0 M0 T2b N1 M0 IIB T3 N0 M0 T1a–T3 N2 M0 IIIA T3 N1 M0 T4 N0–N1 M0 N3 M0 IIIB T4 N2 M0 M1 IV SCLC has traditionally been classified as "limited stage" (confined to one-half of the chest and within the scope of a single tolerable radiotherapy field) or "extensive stage" (more widespread disease). [1] However, the TNM classification and grouping are useful in estimating prognosis. [81] For both NSCLC and SCLC, the two general types of staging evaluations are clinical staging and surgical staging. ... Eliminating tobacco smoking is a primary goal in the prevention of lung cancer, and smoking cessation is an important preventive tool in this process. [83] Policy interventions to decrease passive smoking in public areas such as restaurants and workplaces have become more common in many Western countries . [84] Bhutan has had a complete smoking ban since 2005 [85] while India introduced a ban on smoking in public in October 2008. [86] The World Health Organization has called for governments to institute a total ban on tobacco advertising to prevent young people from taking up smoking. [87] They assess that such bans have reduced tobacco consumption by 16% where instituted. [87] Screening [ edit ] Main article: Lung cancer screening Cancer screening uses medical tests to detect disease in large groups of people who have no symptoms. [88] For individuals with high risk of developing lung cancer, computed tomography (CT) screening can detect cancer and give a person options to respond to it in a way that prolongs life. [68] [89] This form of screening reduces the chance of death from lung cancer by an absolute amount of 0.3% ( relative amount of 20%). [90] [91] High risk people are those age 55–74 who have smoked equivalent amount of a pack of cigarettes daily for 30 years including time within the past 15 years. [68] CT screening is associated with a high rate of falsely positive tests which may result in unneeded treatment. [92] For each accurate positive scan there are about 19 false positive scans. [91] Other concerns include radiation exposure [92] and the cost of testing along with follow up. [68] Research has not found two other available tests— sputum cytology or chest radiograph (CXR) screening tests—to have any benefit. [89] [93] The United States Preventive Services Task Force (USPSTF) recommends yearly screening using low-dose computed tomography in those who have a total smoking history of 30 pack-years and are between 55 and 80 years old until a person has not been smoking for more than 15 years. [94] Screening should not be done in those with other health problems that would make treatment of lung cancer if found not an option. [94] The English National Health Service was in 2014 re-examining the evidence for screening. [95] Other prevention strategies [ edit ] The long-term use of supplemental vitamin A , [96] [97] vitamin C , [96] vitamin D [98] or vitamin E [96] does not reduce the risk of lung cancer. Some studies have found vitamin A, B, and E may increase the risk of lung cancer in those who have a history of smoking. [99] Some studies suggest that people who eat diets with a higher proportion of vegetables and fruit tend to have a lower risk, [31] [100] but this may be due to confounding —with the lower risk actually due to the association of a high fruit and vegetables diet with less smoking. [101] Several rigorous studies have not demonstrated a clear association between diet and lung cancer risk, [1] [100] although meta-analysis that accounts for smoking status may show benefit from a healthy diet. [102] Management [ edit ] Main article: Treatment of lung cancer Treatment for lung cancer depends on the cancer's specific cell type, how far it has spread , and the person's performance status . ... The average survival time for limited-stage disease is 20 months, with a five-year survival rate of 20%. [7] The prognosis of patients with non small cell lung cancer improved significantly in the last years with the introduction of immunotherapy. [159] Patients with tumor PDL-1 expressed over half or more of the tumor cells achieved a median overall survival of 30 months with pembrolizumab. [173] Multiple phase 3 trials providing immunotherapy in the first line for patients with non-small cell lung cancer have been published. [159] According to data provided by the National Cancer Institute , the median age at diagnosis of lung cancer in the US is 70 years, [174] and the median age at death is 72 years. [175] In the US, people with medical insurance are more likely to have a better outcome. [176] Epidemiology [ edit ] Trachea, bronchus, and lung cancers deaths per million person in 2012 0–7 8–12 13–32 33–53 54–81 82–125 126–286 287–398 399–527 528–889 Lung cancer distribution for white males in the United States Lung cancer, incidence, mortality and survival, England 1971–2011 Worldwide, lung cancer is the most-common cancer among men in terms of both incidence and mortality , and among women has the third-highest incidence, and is second after breast cancer in mortality.
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Tuberculosis In China
Wikipedia
Progress of tuberculosis control in China, 1991–2005 Year Proportion (%) of new smear-positive TB cases successfully treated Estimated proportion (%) of all new smear-positive TB cases detected Proportion (%) of counties implementing the WHO-recommended DOTS strategy 1991 69 4 5 1992 75 7 7 1993 79 10 19 1994 88 14 48 1995 92 21 58 1996 94 25 60 1997 94 26 61 1998 93 27 62 1999 92 28 63 2000 92 30 63 2001 91 29 65 2002 91 26 64 2003 92 44 77 2004 90 63 89 2005 90 80 100 Focusing on vulnerable groups [ edit ] One group of special concern are work migrants , most often poor men, who leave the countryside to join the wage economy in towns and cities all over China. [6] [7] [8] [9] Some come from areas such as Henan Province where huge numbers of peasants were infected with HIV from scandalous plasma-donor practices in the 1990s. ... World Health Organization. 2009. pp. 187–300. ISBN 978-92-4-156380-2 . Archived from the original on 2009-11-19 . ... In Sleigh AC, Chee HL, Yeoh BS, Phua KH, Safman R (eds.). ... "SARS and China's rural migrant labour: roots of a governance crisis". In Sleigh AC, Chee HL, Yeoh BS, Phua KH, Safman R (eds.). ... Lancet . 347 (8998): 358–62. doi : 10.1016/S0140-6736(96)90537-1 . PMID 8598701 . Tang S, Wang L, Wang X, Squire SB (2002).
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Arsenic Poisoning
Wikipedia
Inorganic arsenic trioxide found in ground water particularly affects voltage-gated potassium channels , [85] disrupting cellular electrolytic function resulting in neurological disturbances, cardiovascular episodes such as prolonged QT interval, neutropenia , high blood pressure , [86] central nervous system dysfunction, anemia , and death. ... S2CID 24138885 . ^ a b Hughes, MF; Beck, BD; Chen, Y; Lewis, AS; Thomas, DJ (October 2011). ... "Cancer risks from arsenic in drinking water" . Environ. Health Perspect . 97 : 259–67. doi : 10.2307/3431362 . ... Cancer Epidemiology, Biomarkers & Prevention . 3 (7): 583–90. PMID 7827589 . ^ Gonsebatt ME, Vega L, Salazar AM, et al. ... Toxicology and Applied Pharmacology . 183 (2): 99–107. doi : 10.1016/S0041-008X(02)99468-8 .CCL20, AQP9, SKIL, SOD2, SRP68, SSBP1, TRAPPC10, TNF, TNFAIP6, TP53, UBE2E1, PIAS1, USO1, IER3, USP13, CCRL2, CD83, MINPP1, AKAP9, ZNF267, N4BP2L2, RUFY3, TNIK, TRA2A, SOX18, ZFAND6, ZNF331, PELI1, AS3MT, TAF1D, MIR145, SFPQ, CCL3L3, CCL4, ATXN7, CD44, CRP, ERCC1, ERCC3, ERCC4, GOLGA4, CXCL2, CXCL3, HSPA1B, ID2, IL1A, IL1B, IL1RN, INPP5A, KCNJ2, KRT10, MT1A, MTHFR, GADD45B, NDUFB8, PNP, NR4A2, PDE4B, PFKFB3, PTX3, RFX3, RGS1, GSR, ALAD
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Type 2 Diabetes
Wikipedia
"Pathophysiology of type 1 and type 2 diabetes mellitus: a 90-year perspective". Postgraduate Medical Journal . 92 (1084): 63–9. doi : 10.1136/postgradmedj-2015-133281 . ... Bulletin of the World Health Organization . 91 (9): 671–682D. doi : 10.2471/BLT.12.113415 . ... Nature . 535 (7612): 376–81. Bibcode : 2016Natur.535..376P . doi : 10.1038/nature18646 . ... Diabetes Research and Clinical Practice . 89 (3): 309–19. doi : 10.1016/j.diabres.2010.04.012 . ... Geneva: World Health Organization . 2006. p. 21. ISBN 978-92-4-159493-6 . ^ Vijan, S (March 2010).PPP1R3A, HNF4A, PAX4, AKT2, GCK, IRS1, KCNJ11, HNF1A, HNF1B, SLC2A4, NEUROD1, PDX1, SLC2A2, IRS2, WFS1, HMGA1, ABCC8, CDKAL1, INS, INSR, ENPP1, ADCY5, CAPN10, TCF7L2, PPARG, TGFB1, LIPC, BCL2, MAPK8IP1, HP, NOS3, PPARGC1A, HMOX1, LEPR, ICAM1, UCP2, LEP, SIRT1, ADIPOQ, EDNRA, EDN1, TNF, TNFRSF1A, NOS2, KL, CPT1A, SNAP25, ATP2A2, EDNRB, RETN, GCKR, SLC30A8, GLIS3, GCGR, FTO, GLP1R, PTPN1, JAZF1, KCNQ1, IGF2BP2, MTNR1B, THADA, HMG20A, NOTCH2, PROX1, KCNK16, GPD2, UBE2E2, AP3S2, MAEA, CMIP, PEPD, GRB14, CCND2, PLEKHA1, DGKD, ZFAND3, ITGA1, PSMD6, PAM, KSR2, NFATC2, CAT, SHBG, MIR375, SLC2A1, BRAF, SLC1A2, ST6GAL1, HHEX, JADE2, IL13RA1, MIR126, SOD2, VPS26A, GSTM1, MOK, GNB3, GCG, CNKSR2, AUTS2, IGF2, GP2, INPPL1, SREBF1, SOD1, FGF21, LPL, ZNF257, FBN1, USP48, PPARA, SCTR, EPC2, IAPP, FAM234A, KLF14, CYBA, RNF6, IDE, ETS1, GIPR, CASP3, TNFRSF1B, SFRP4, OGG1, ND1, ADAMTS9, GPX1, AR, NFKB1, MIR27A, EGFR, MIR192, PCSK2, COX2, PRKCB, MIR144, HBA1, TIMP1, C2CD4A, ATF3, SLC22A3, MIR221, TMEM18, C3, C2CD4B, MIR483, MIR222, MIR423, RELA, FAS, CISD2, CBS, HK1, ATP2A3, MIR130B, HLA-DRB5, MIR203A, MIR142, CCDC92, MIR140, MIR200A, MIR98, MIR204, PAX6, ECE1, MIR214, ITLN1, MIR10B, MIR30A, MIR377, MIR1260A, CDO1, RARRES2, CCR5, SMAD5, MAT1A, NUS1, MIR1249, MIR1296, MAPK8, MIR1226, MIR1306, MRAS, MIR1228, MIR744, MIR939, CD36, MIR885, MIR1307, MIR151A, GPT, RBP4, IGF1, ID1, MIR127, MIR215, HSD11B1, MIR205, HPX, MIR195, MTOR, MIR141, GIP, HIF1A, MIR181C, GH1, UCP3, SOCS3, MIR17HG, MIR125B1, MIR432, MIR92B, MIR628, MIR532, MIR487B, BCL2L11, CYP1A2, S100A6, IL6, MIR485, MIR409, MIRLET7D, CCL2, MIR339, MIR335, MIR1301, MIR33B, MIR1908, MIR3173, MIR4482, BCL2L1, MIR4516, MIR8061, MIR6741, PRKAA1, PCK1, PCSK1, NFE2L2, BHMT, MIR7704, PPARD, MIR1260B, NUCB2, NKX6-1, ADRA2A, SERPINF1, AKT1, ZC3HC1, AGER, SERPINE1, MIR6803, KCNU1, AVP, MIR2116, MAPK1, TMEM155, MMP9, CASP8, PTGS2, G6PC, NR3C1, GSK3B, IGF1R, CCN2, REG3A, PIK3R1, CALCA, MAPK3, MAFA, HMGCR, MMP3, NPPB, SERPINA12, CRTC2, PC, ABCG2, CD38, BECN1, BAX, MMP1, PRKCZ, PTGDS, PRKN, MADD, HTR2C, AGTR2, TRPC1, ARRB2, LNPEP, AOC3, TRPC6, DCX, DEFB1, SMAD4, MIF, DNMT1, SLC9A1, CARTPT, NOG, PLAT, PLN, MTNR1A, UGT1A1, NFE2L1, DNM1L, CYP2E1, PPP1R3C, FOXM1, UGT1A6, SRD5A1, NR1D1, NOS1, THBD, AGRP, GJA1, PRKCE, CYB5R4, MAPK9, TGFBR2, CCKAR, CDKN2B, MAPK14, ACOT2, CYTB, MKI67, CTF1, SCN1B, DAG1, F7, ANKRD23, COL3A1, OXCT1, FEM1B, SRC, CALM1, CYP11A1, HSD3B1, KLF11, MAP1LC3A, KCNMB1, ARX, NCOA6, HSD17B3, TSPAN8, PNPLA3, GPT2, CASP7, BAD, ABCC2, ASIP, CASP12, PHOX2A, EPAS1, ATP2A1, PPP2CA, AK1, GADD45GIP1, AANAT, ATP5F1B, SLC16A11, STAR, BEST1, MPST, MTR, ALDOB, PRKCI, CCHCR1, MC4R, LMNA, CRHR1, EIF3F, SDF2L1, HLA-DQB1, SLC12A3, ATF6, CDKN2B-AS1, CAMK1D, NEUROG3, CTNNB1, ALMS1, ARAP1, ATM, UMOD, CDC123, ANK1, GRK5, DUSP9, NOX4, ABO, CYP19A1, ARL15, ELN, SRR, TP53INP1, CASR, TM6SF2, PTPN22, KIF11, CUBN, MAP2K7, TMEM163, GPR55, SCGN, TFAP2B, AGMO, HMGA2, DNER, ALDH7A1, RBMS1, HECTD4, RFC2, LAMA1, AHR, PRPF31, SLC26A9, PROM1, CTBP1-DT, ARG1, UBE2Z, DGKB, POU5F1, AHI1, ZMIZ1, RP9, INS-IGF2, ZRANB3, COBLL1, FAF1, TCF19, PRC1, ACSL1, TH, ND5, PTPRD, RASGRP1, GLP2R, RBPJ, TUB, GATAD2A, BAZ1B, LINGO2, NRL, ALK, PBX4, SSR1, NDUFAF6, PRKAG2, CLIP2, WRN, POC5, DHDDS, OAS1, SNHG17, ABCA4, SGCD, SLC16A13, CAMTA1, CTRB1, ADGRL3, EHMT2, SPPL3, STUB1, CAMK2G, TRDN, MACF1, TSBP1, STX8, TTLL6, PTPRN2, CAMKK2, RREB1, TRPM1, BCL9, LIG4, ATXN1, CTBP1, SUGP1, ROM1, TPCN2, MPHOSPH9, MCM6, SH2B3, POMGNT1, MASP1, FBXW7, RBPJL, SGCG, LIMK1, PPP2R2C, PDE6B, CERKL, FAM161A, RBP3, HIVEP2, HLA-DRB9, HLA-DOB, PRIM2, GPR119, MAGEC3, ASCC2, HK2, PRPH2, PEX10, HLA-DRB1, HGSNAT, SSTR4, NPY, SUMO4, ARL6, MNX1, GUCA1B, LCN2, UNC5D, MOG, OSBPL7, PCSK9, TRNL1, NECTIN2, PRKAA2, RTN4RL1, TCF7, TTC8, MAK, PYY, CYB5D2, TTC39C, MAP6, DLEU7, MFAP1, CFAP77, RELN, MBNL1, RFLNA, EDARADD, RDH12, MCC, LINC02694, LINC01344, RPSAP52, PSMD9, PCARE, TNFRSF11B, NTRK2, PRKAB1, MMP2, PDE6G, NRG4, ST6GALNAC3, APOA5, LPA, CTTNBP2, NTRK3, LRMDA, PDE6A, ZSWIM3, LTA, HFE, PTH1R, PTH, PTGFRN, PCNT, REG1A, RHO, OSBPL1A, SLC5A2, ZNF513, SELE, CCDC149, C8orf37, CCNQ, PRRX1, PLCD1, IFNG, SLC5A1, IDH3B, IMPDH1, LINC01010, PLCB3, IL17A, IDH3A, IL18, SLC9B2, C17orf58, ND6, PPARGC1B, SELP, ZNF775, IL10, PLG, TRNQ, TRNS1, TRNS2, TRNK, SI, TRNH, TRNW, IL1RN, TRNF, IL4, IL1B, TRNE, IL1A, ST3GAL4, ST3GAL3, PPIL6, PDILT, CXCL8, ARL9, NEK2, ND4, REN, RP1, EYS, KCNQ3, PIK3CD, SPP1, HORMAD2, CHCHD6, RP2, PIK3CB, PIK3CA, NLRP3, MTHFR, SLCO4C1, SDHAF4, MSH3, RLBP1, KIF9-AS1, RGS13, RGS7, RGR, RFC1, NFKBIL1, RPGR, RPE65, MRPL12, CNDP1, CDHR1, COX3, REEP6, COX1, FFAR4, GPBAR1, SCD, ATXN7, ATXN2, SLC22A1, SAG, HNF1A-AS1, ZNF101, GOLGA6A, PON1, PIK3CG, TTLL8, CHMP4B, IL17REL, EHMT1, LINC01122, KCNQ1OT1, INTS8, RAB3GAP1, ENPP7P10, RALY, NLGN1, CPEB3, MGLL, MINDY1, SPATA7, CD59, CD81, UBAP2, ARHGAP15, CDK5, NUDT6, POLR3A, KIZ, CDKN2A, TRIOBP, SNRNP200, PALLD, ZHX3, LINC00844, ABCB9, ABCB10, CRB1, PRC1-AS1, BRS3, ARHGEF18, RPGRIP1L, ADAMTS9-AS2, LINC01426, CAD, UBE2E2-AS1, PROX1-AS1, CA4, OSER1-DT, SLC30A10, FBXL7, CEP68, ZZEF1, ANGPTL8, APOM, ARPIN-AP3S2, LMCD1-AS1, CNR1, ZBED3-AS1, ACKR3, MERTK, PDSS2, ATP8B2, DLEU1, LRFN2, RAMP2, CALCOCO2, CPA1, GPR158, TOPORS, STARD9, NAMPT, FRY, CRP, CRX, PITPNM2, CNGA1, CNGB1, GTF2I, NFAT5, PNPLA6, CETP, KLHL7, TEX14, ANKH, LINC00271, RAI1, HMGA2-AS1, CXCR6, PRPF8, SUMO2P17, CHUK, YKT6, ZGLP1, TXNIP, CLCNKB, C1GALT1, PRCD, ARL2BP, BLM, NR2E3, LOC102723407, AGT, AGTR1, LRP12, LINC02030, AHSG, PURG, LINC02484, ALB, LINC02841, PELO, AKR1B1, EXOC6, HPGDS, PALD1, FOXP1, CCND2-AS1, NSG1, LINC02576, SND1, LRP1B, FSCN3, ADRB3, ADIPOR1, ABCA1, ANKFY1, SNX7, PEX5L, GLRX5, HSD17B12, ASB3, ANGPTL4, ADA, ADRB2, ADARB1, SOST, IMPG2, GHRL, SCAPER, LINC01611, ADRA1A, ADRA2B, TBL2, ANPEP, RCBTB1, VPS33B, HNF4A-AS1, OSBPL3, SCAANT1, TXNL4B, PTPN23, MIR5094, ABI3BP, PINX1, SAMM50, FSCN2, BBS2, PRPF6, SRBD1, DIANPH, BDNF, DARS2, BGLAP, SBNO1, AMACR, LINC00824, ASCL2, LINC02010, APP, GIN1, APOA1, APOB, APOC3, HORMAD2-AS1, IFT172, APOE, CNTLN, APRT, POLDIP2, ETS1-AS1, PABPC4-AS1, LINC01339, TSBP1-AS1, C5orf67, ARL3, PKN2-AS1, GPSM1, TSPAN3, PCSK6, CST3, AGBL5, PABPC4, PEA15, EXT2, EYA2, OASL, FABP4, GDAP1L1, FABP2, OFD1, GCC1, ADIPOR2, NPRL3, IFT88, FGF23, FGF14, ZNF408, BEST3, MIR29A, ESR1, ALDH1A2, PRPF3, PIM3, NRXN1, NRXN3, PIEZO2, LRAT, LPAR2, XYLT1, PRPF4, APLN, KIF9, SEMA4A, SELENBP1, CLN8, MGAM, MTMR3, AKTIP, ZSCAN20, ZIC1, THSD4, TLR4, TULP1, TNKS2, ZNF34, GOT2, TP53, TNFAIP6, SLC2A10, FFAR1, UCP1, C16orf74, GPR42, TGFBR3, MLX, LINC02245, GSTP1, GSTT1, SPHKAP, MIR146A, FOXO1, GABPA, XRCC4, SCD5, CPED1, PCNX2, VWF, VSNL1, BICC1, GABRA4, USH2A, GABRG3, GAD1, GAD2, VEGFA, VDR, VCAM1, CLRN1, MED23, YTHDC2, DPP4, UBE3C, GTF2IRD1, DSPP, RHOBTB1, ACE, G6PC2, DECR1, MAGI2, DBP, SLC7A14, CLOCK, FCHSD2, ACE2, SINHCAF, USP3, CELSR1, RBM19, FGF19, MIR4435-2HG, RAPGEF5, GDF15, MTSS1, UVSSA, SFI1, CYP2C9, WSCD2, DEPDC5, TRIB3, DHX38, IFT140, SENP2, CYP21A2, KIAA1549, DOCK4, DARS1, MRPS35, BCHE, LIPE, AIMP2, RNF19A, LDLR, USF1, ARNTL, NOS1AP, AHSA1, GSTK1, PTEN, RBM45, RENBP, CTLA4, IGFBP1, CRK, GRAP2, DMD, GYS1, PON2, CCL5, POMC, IGFBP3, MME, STAT3, LGALS3, CYP2C19, SLCO6A1, LPIN1, F3, STAP2, APOA2, AQP7, FOXA2, SST, SLC17A5, MET, HMGB1, GPR151, NIDDM1, SELENOP, NIDDM2, GPRC6A, PCK2, GGT1, OR10A4, DIO2, HSPA5, GC, CYP3A4, LINC01672, MPO, GGTLC5P, SIRT6, TLR2, GLO1, ELMO1, BCL11A, MLXIPL, ARID4B, NRF1, P2RX7, MIR155, MSTN, CYP2B6, ACR, GGTLC3, MRGPRX1, ALDH2, PDR, GGT2, MRGPRX3, APOL1, HSPA1A, SIRT3, GPR166P, VN1R17P, OXER1, SLC2A11, FZD4, FNDC5, SNCA, MRGPRX4, MIR21, HSPA4, ABCG1, HSPA1B, LPAR3, CHI3L1, NR3C2, FGF2, CD14, ISL1, HAMP, LGR6, ARNT, ZBTB7C, CAV1, GGTLC4P, SGK1, PSEN1, NR1H4, CISD1, SELENOS, CD163, TMBIM4, VIP, CCN4, MFN2, ROCK1, IL22, GGTLC1, VIM, SLC22A2, SOD3, PLIN1, OGA, CNBP, PLA2G2A, SAT1, HAVCR1, FETUB, SFRP5, NAT2, EPO, IARS1, GLUL, LBP, MIR27B, STS, APOA4, ACACB, KNG1, MIR29B1, GAS6, IL15, CD44, HLA-DQA1, ATN1, FXN, CD68, ADM, MIR29B2, LOC102724197, MEFV, CRY2, HGF, FGF1, MTTP, DDIT3, ANGPTL3, BCL2A1, SIRT2, DKK1, INSRR, KCNJ4, IL33, FADS2, CASP1, IL6R, IL37, CCK, SORT1, TBC1D4, MT1A, HEBP1, PRL, MBL2, PARP1, GRK2, ARHGEF11, ROS1, TRPM5, PTX3, FADS1, PYCARD, IL2RA, KRT16, IL5, XPR1, IL2, BMP4, HIRA, LPAL2, FABP1, PADI4, CHDH, FANCD2, PTK2B, BRCA2, SOCS1, FN1, XBP1, SLC47A1, FOXC2, SLBP, PLA2G7, FGB, GHSR, DGAT1, LIPG, EPHB2, IGFBP2, MIR34A, ELANE, MT2A, HSPG2, SOAT1, DPPA3, SULT1E1, TPD52, SH2B1, HHIP, HDLBP, NR1I2, AZU1, MIR122, BTC, CPE, MAP4K4, PDHX, STAM2, NCAM1, ACP1, CMKLR1, NGF, NHS, PKD1, UTS2, MYH9, PGC, MTCO2P12, IFNL3, RAPGEF1, SORCS1, KIR3DL1, GPX3, KDR, P2RY12, TIMP3, SNAP23, FLVCR1, GRN, HDAC9, AMY2A, TNFSF14, COMT, RPL29, GPD1, PDE3B, RAPSN, DACT1, SPX, TRAF6, PVT1, CYP2D6, AKR1A1, KEAP1, MIR223, ALOX12, HDAC3, MARCHF1, ISG20, RNU1-1, ANGPT1, C1QTNF9, TNMD, GAS5, IL13, CXCL12, SPARC, ENO1, CCL16, GPR142, CXCL10, ENHO, STRA6, ST13, TFRC, NPC1, CACNA1E, STK11, STX1A, CCR2, PDK4, RUNX2, NRG1, ERBB2, S100A9, SQSTM1, C1QL3, BCAR1, CLPS, LRG1, TOMM40, GEM, ACACA, DDAH2, FKBP5, CISH, CDK4, LGR5, METRN, MUSK, CREB1, MIR17, FLAD1, TAS2R13, CD40LG, PSMA6, MIR143, SLC39A7, CLU, POU2F1, NR1H3, PTGES2, FOXP3, OLR1, PCNA, LRP5, GAPDH, SLC2A9, ABCB6, PRKCA, NR0B2, XRCC1, ENSA, CXCR4, F5, PLA2G10, NR4A1, PLA2G6, ABCG5, ACHE, FOXO3, FBRS, STAT5A, P2RX3, CACNA1D, FSD1, HPSE, NPPA, FGFR1, KLK3, ARSA, PRMT1, IGF2R, CHGA, KLF4, PPP1R3B, DHX40, ANXA1, PNPLA2, ELAVL2, ERP44, CIDEC, PRDM16, FBXO8, BMP7, VPS13C, STEAP4, NNMT, CCNL1, MCIDAS, HSPA2, APOD, KHDRBS1, APOH, DST, MIR30D, ADAM17, FCGR3B, FCGR3A, ISYNA1, POU2F3, OSM, MIR145, SMUG1, B2M, NR1H2, NTS, MIR152, TNFSF10, WNK1, UTS2R, TM7SF2, GGCT, WNT5B, TNFRSF12A, NUP62, DDAH1, COL18A1, CMA1, IMPACT, HEMGN, GFAP, TNFSF11, F2, SP6, F2R, OGN, FAAH, PDE5A, BTF3P11, IL18R1, PBX1, ERBB4, NBEAL2, SIRT4, TCF4, SIRT5, HCCS, ELOVL6, GTF2H1, TTR, CILP2, TEK, FSD1L, TERF1, TFAM, PHLPP1, BACE2, TRPV1, MIR182, G6PD, ESR2, VEGFC, TGFBI, GRB10, TGM2, BMP2, OPA1, PARL, LINC01194, SLC6A4, ENTPD1, PRKG1, CENPJ, DRD2, LOX, KCNJ1, DCTN4, MC3R, PPIG, TUBB4B, JAK2, JAK1, S100A8, CERS6, ITGAM, NOD1, SPRY2, RNR2, JPH3, ITGA2B, LAD1, TMEM154, LITAF, STK38, PTPN2, RPS6KB1, KLB, PLF, MBOAT4, UCN3, KCNMA1, ALOX5, KCNJ15, TIMM8A, SGSM3, BRD2, PLTP, CEACAM5, RRAD, PRTN3, KCNJ9, H6PD, RXRA, MUTYH, PSAT1, PROS1, IRAK1, ITGA2, ANGPTL2, PGR, AMD1P2, EBI3, LRP2, C1QTNF5, CREBRF, PPIA, ADCY3, PHOSPHO1, ABCB1, RAC1, LRP1, SFTPD, EGR1, CYP2J2, FOXD3, CAPN1, RN7SL263P, BMS1, COPA, RAD1, TFB1M, TMPRSS6, SERPINA1, C1QTNF1, AMD1, NTN1, C5AR2, CDK9, CD33, MMP8, CASQ1, METRNL, ALX4, CYP2C18, NPC1L1, TLR9, SCARB1, INTU, SELL, LARS2, CYBB, ARID1B, KLF7, MIR495, SLCO1B1, CX3CR1, DOK5, CYP2C8, CYP1A1, P2RY1, NCOA5, SLC27A4, MAGEE1, FST, GFPT2, DUSP12, LRPPRC, CDKN1B, CELA3A, RNLS, FAT1, FBN2, SLC52A2, FCGR2B, ATP6AP2, CDKN1C, PREX1, KMT2D, SEMA6A, KLHL42, CHRM3, MICA, CPT2, CDKN1A, CP, CRYZ, CDC42, COX4I1, NR1I3, FCN3, CTSD, FABP6, MIR486-1, COX8A, PDLIM5, PTPRU, CDK2, IVNS1ABP, ABCC5, POSTN, OGT, CSF2, HOTAIR, NISCH, AGXT2, BSG, P2RX2, DEFB103A, XYLT2, COL9A3, DYRK1A, MIR30C2, P2RX6, CIB1, EP300, RCAN1, FAM3A, MIR30C1, ABCG8, ATG7, MIR29C, SLC30A6, CAV3, EPHX2, ARID3A, CEBPB, GGA3, CEL, DNAJB3, MIR33A, MIR34C, MIR320A, CELA1, CAMP, CPB2, CALR, EGF, IL32, CAPN2, ADAM28, CES1, LILRB1, SLC25A20, CAPN3, SULF2, NOD2, HSPB3, EPOR, ARHGEF12, VASH1, ESRRA, TRIM72, SERPING1, ZNF410, COMP, MIR20B, PINK1, ICOSLG, CD5L, CHPT1, DAPK3, ABHD6, CYP17A1, CYP11B2, KLF5, MEG3, PDAP1, CYP3A5, SUCLA2, TXNRD2, CNDP2, ARHGAP22, TBC1D1, MEPE, KLRK1, SEMA3A, NPEPPS, AAA1, SPHK1, ATF7IP, PER2, DNASE1, FOXO6, SORBS1, TSC22D1, SARDH, NQO1, DHCR7, SOCS2, GDF11, P2RY2, NR4A3, SLAMF1, LDHA, LECT2, LGALS1, LIF, C1QTNF3, FAM3B, LMX1A, DUOX1, PVALB, ICOS, PTPRN, PTPN9, RMC1, CYP2R1, APLNR, AFP, AFM, KIF6, SMAD7, KCNIP1, ADORA1, MAPT, DUOX2, MBP, IL20, ADH1B, PLIN2, MDM2, MEF2A, NANS, FRMD3, TERF2IP, ALOX5AP, IL1R1, IL6ST, SLC39A1, IL12B, SDC2, SDC1, CXCL5, SRL, ALOX15, SPINK4, ITGAX, MSMO1, TSPAN31, S100B, COPD, SFXN1, GHS, RXRG, KCNJ6, DESI1, RRAS, PRRT2, DLL1, RORC, NPAS4, KISS1, KLK1, KRT18, PRSS55, PRKCD, LARP1BP2, HDAC7, PIK3C2G, TAAR1, NM, SLC25A3, PHB, ATP6V1H, PGF, PFKM, NOTCH1, NT5C3A, PEG3, NPHS1, BFAR, IL23A, ERFE, TRPM6, ACAT1, PDCD1, PWAR1, PCYT1A, OCA2, R3HDML, PCBD1, OPRM1, P2RX1, P2RX4, P2RX5, PAK1, ACLY, NFKBIA, PRKAR1A, POR, PRKAB2, MMP7, MMP12, MMP13, SRGN, PTPA, MMP14, MRC1, RNU6-392P, GPRC5B, GAL, MT1E, FITM2, MT1X, NF2, MTHFD1, METTL9, PLXNA2, SLC35G1, PLK1, GNPDA2, PLD1, PLCG1, PLAGL1, PLAG1, PLA2G1B, PKNOX1, PKLR, IKBKB, CHIT1, CRISPLD2, AZGP1, GSN, KLRC4-KLRK1, GSR, UGT2B15, TF, TERT, GATA6, SERPINA3, ANGPTL6, TERC, TXN2, VIPR1, UCHL1, TMEM132A, TAPBP, CFH, VLDLR, ERVK-18, C1QTNF12, HLA-DMA, ATP5PF, GAST, VTN, STX4, BID, GFER, STAT5B, TLR3, TRH, ACAD10, CRISP2, GLA, CEP55, CD2AP, CBLIF, P2RX5-TAX1BP3, MIR107, BCR, CIMT, GPR39, THBS1, TTN, GHR, FFAR2, TLE1, TKT, TXN, GCA, GPS2, KLF10, SESN2, GFPT1, ARID5B, GORASP2, MIR199A1, FGL1, SPINK1, AQP9, SOX4, SORD, SNRNP70, FKBP4, AOC2, ANXA6, SPZ1, HTN1, SLC30A1, APPL1, HTR2A, SLC16A1, TRPM7, ANGPT2, GPC5, SLC6A2, ST8SIA4, SLC2A5, ANKRD55, IGFALS, QRSL1, FHL1, MIR199A2, MIR20A, STAT4, LINC-ROR, PGR-AS1, SSTR5, WNT5A, MIR130A, ONECUT1, FLT1, SREBF2, NAT10, C4B_2, MYDGF, LOC107832851, DMAP1, LARP6, LY75-CD302, RASD1, RBM14-RBM4, LSR, NBAS, DEFB4B, MCS+9.7, HMGA1P8, LOC110806263, MMP26, RHOT1, CCL28, ALG1, METTL3, LIN7C, LINC00994, DIP, RPS10-NUDT3, GNG12-AS1, RAB14, WASHC1, CYRIB, VIM-AS1, NDUFA12, SLC50A1, NEIL3, LOC102723996, SIRT1-AS, THRIL, MIR1910, SLC38A2, ALL2, NLGN3, CASZ1, ENAH, ZFAND6, OPN1MW3, VPS35, EXOSC4, RNPC3, UGT1A10, UGT1A8, UGT1A7, ERRFI1, UGT1A5, UGT1A9, MIR3188, TEMPS, UGT1A4, BNC2, TRPM4, TET2, FBLIM1, SALRNA1, CBSL, LOC102723971, UGT1A3, TREM2, MIR3939, APPL2, MOCOS, ZC4H2, LGR4, DEFB103B, COMMD3-BMI1, MIR4756, USE1, ASAH2, ENOX1, BOP, CAMK2N1, SLC6A20, SLC52A1, CST12P, SAGE1, PLUT, WWOX, LRP1-AS, ADA2, MIR3666, IL17D, SHC3, CERNA3, HDL3, FXYD5, MIR4463, PERCC1, SOX6, UGGT2, ROBO4, DUSP26, SUCNR1, IGSF21, CISD3, TIMD4, TRIM47, KCTD1, MIF-AS1, TTC28-AS1, EXOC3L2, SLC9C1, UCN2, CYP4V2, WNT3A, GALP, SLC22A16, LY86-AS1, KRT90P, DSEL, HCCAT5, GORAB, BIRC8, AD7, RNU12, AQP11, H19, TXNRD3, SLC46A1, OPN4, PRDM6, CGB8, CGB5, MUC19, LINC00523, PGP, TRMT10A, ABCC11, BPIFA4P, HS6ST3, MMAB, PHF6, ZACN, SLC27A1, LINC-PINT, MALAT1, PPP1R1B, KAT8, CHKB-CPT1B, SLC41A2, HORMAD1, IMMP2L, LEKR1, SAMD12, MIXL1, GPR61, LINC01193, PWAR4, C7orf50, GLYR1, UBASH3B, ORAI1, PTPN5, GPIHBP1, MFSD9, HCAR2, ZNF469, ZBED3, ZGPAT, BRINP3, ZFP69, HSD17B13, ACTBL2, L3MBTL3, TIRAP, TAS2R12P, TAS1R3, NRK, CLDN19, SIK1, UPP2, PPM1K, SLC2A12, CBLL2, FAM3D, ACVR1C, DQX1, SGMS2, NLRP6, ARID2, PIFO, MLKL, TET3, PDIK1L, MTPN, LRGUK, ROMO1, OR2AG1, PIWIL4, SESN3, FGFBP3, GSC, MT1P3, HT, GPAT4, BEAN1, CD300LG, PTPRVP, SLC30A7, IL23R, FAM78B, CENPX, KLHDC7A, SGMS1, MED19, CADM2, ANGPTL5, DCD, THEM4, TADA1, AKNAD1, SLC41A1, OLIG1, SLC22A12, CASC2, ANKK1, OSBPL8, PTF1A, WDR72, NEGR1, HCG27, IL27, SPESP1, MARCHF8, FOLH1B, TPRG1L, LYPLAL1, UNC5B, TCHHL1, SKA1, MSI2, GGTA2P, JMJD1C, SLC39A12, TPPP2, SPIC, RFX6, SLC29A4, SETDB2, INHBE, MICC, MT1IP, CCAR2, MIR323B, MARK4, MIR146B, MIR202, SPTBN4, MIR496, MIR499A, MIER1, USP37, NPS, CHD8, POTEM, TSHZ3, ECSCR, HNP1, MIR424, MIR382, SLC25A19, EIF2AK4, IGAN1, NIF3L1, ELOVL5, BACH2, EXOC4, RNASEK, MIR378A, PLIN5, POTEKP, PGBP, UBL5, CXCL16, NEUROD4, POU5F1P3, CHCHD2P9, TNFSF12-TNFSF13, USP36, KMT5AP1, MUC5B, OPN1MW2, CPA6, HYMAI, CDK11A, SLC12A9, ARNTL2, CA10, SMARCAD1, OCTN3, CELF4, SPHK2, MIR708, C20orf181, MIR661, GOPC, PELI1, KIDINS220, POU5F1P4, CXADRP1, NCF1, CFAP97, WASH6P, XPO5, MIR590, MIR657, MIR593, PLEKHG5, MRS2, GJD2, ATP10A, SLC39A10, PROK2, MIR99A, TOMM5, MUL1, ASRGL1, MIR15A, MIR15B, MIR18A, MIR187, STN1, MIR200B, ADM2, PRR5L, BBS10, LIN28A, NLRX1, NEIL1, MIR206, TNFAIP8L2, MIR154, MOGAT2, MIR147A, MIR106B, MFRP, MED25, TLR10, NIPA2, MOB2, COLEC12, SETD7, ALPK1, TAS1R2, MIR125A, MIR128-1, TSEN2, MIR132, COASY, MIR210, IRX3, MIR95, MBOAT7, WDR13, MIR296, PDIA2, GORASP1, DCLRE1C, GMCL2, GMCL1, NFKBIZ, NSD1, MIR30E, FN3K, DMRTA1, MIR31, SLC17A9, UBE2O, FNDC4, GNPNAT1, RFX7, GRAMD2B, MIR217, LY6G6E, MIR219A1, KCTD15, MIR22, VKORC1, MIR23A, SLC30A5, MIR23B, BRD9, WNK4, MIR26B, FRTS1, ACD, SCLY, UTRN, LARS1, HACD3, IK, IGH, IGFBP5, IGFBP4, IFNA13, IFNA1, ICAM3, HTR4, HTR2B, HTC2, HSPD1, HSP90AA1, HSPB2, HSPB1, HSPA9, HSD11B2, HES1, HRC, HRAS, HOXA5, HNRNPK, HNRNPF, HNRNPA1, FOXA3, HMBS, IL3, IL4R, IL7, KCNJ10, L1CAM, KRT31, KRT19, KRT7, KPNA1, KIR3DL2, KIR2DS1, KEL, KCNN3, KCNN2, KCNK3, KCNJ3, CXCR1, KCND3, KCNC4, KCNB1, ITGB2, INSIG1, IMPA1, ILK, TNFRSF9, IL16, IL15RA, IL12A, HLF, HLA-DRA, HLA-DQB2, GDF1, GNAO1, GLRX, GLS, GCLC, GLB1, GK, GJA8, GJA4, GH2, GDNF, GDF2, OPN1MW, SFN, GCH1, GBP2, GATA4, GATA3, GAP43, GALNT2, GABRG2, GABPB1, FUT6, FUT2, NR5A1, GOLGB1, GPI, HLA-DQA2, HSD17B10, HLA-DPB1, HLA-DOA, HLA-DMB, HLA-A, CFHR2, HCRT, HBA2, HAS3, HARS1, HADH, HADHA, GZMB, GPM6A, GYG1, GTF3A, GSTA4, GSTA1, GRB2, FFAR3, GPR35, GPER1, GPR21, CXCR3, GPR1, LAMB3, LAMP1, LAMC2, CCN3, OAS3, NR4A2, NUCB1, NTRK1, YBX1, SLC11A2, NPY2R, NPR3, NPR2, NPR1, NPM1, NME1, P4HB, NGFR, NFYC, NFYB, NFYA, NFATC1, NEFL, NDUFS4, NAGLU, MYO5A, MYLK, MYL2, OMG, PAEP, MYF5, PDK2, PIN1, PIK3C3, PIK3C2A, SERPINE2, SERPINB6, PGM1, PFKFB3, PFKFB2, PFDN2, PER1, PECAM1, PDHB, PRDX1, PDGFRB, PDGFB, PDE4D, PDC, PDB1, PCOLCE, SERPINA5, PCDH8, PAWR, PAPPA, SERPINB2, MYH6, MYD88, LAMP2, SH2D1A, MAX, MAS1, MAOA, MAN2A1, MAN1A1, MAFD2, SMAD3, SMAD2, SMAD1, MXD1, LYZ, LY75, MC5R, LY9, LTF, LTBR, CYP4F3, LRP6, LPP, LOXL2, FADS3, LIPA, LCN1, STMN1, MB, SMCP, MUC1, MST1, MTRR, RNR1, ATP8, MT1L, MT1M, MT1JP, MT1H, MT1G, MT1F, MT1B, MSX2, MSH5, ADAM11, MSH2, MPI, ALDH6A1, KMT2A, MGST3, MGP, MGAT2, MFAP2, MAP3K5, MEF2C, ME1, FOS, FOLR2, FOLR1, CA5A, CCND3, CCKBR, CBR3, CBR1, RUNX3, RUNX1, CAV2, CAMK2A, CALCR, CACNB3, CACNA1C, CA2, CD4, VPS51, C5, CAPN5, C4B, C4A, TSPO, BRCA1, BPI, BNIP3, BMP6, BMI1, CD247, CD86, BLK, CGA, AP3S1, CKM, CKB, CIDEA, CHRNB4, CHRNA4, CHN2, CHM, CEACAM7, CEACAM3, CGB3, CFTR, CD34, CTSC, CENPA, CECR, CEBPA, CDX2, CDKN3, CDK6, CDH13, CDH2, CD48, ENTPD3, BLVRA, BGN, CLCN3, AIF1, AMY1C, AMY1B, AMY1A, BIN1, AMPD1, AMH, ALPP, ALPL, ALDH3B1, ALCAM, ALAS1, AIC, ANXA5, ADORA3, ADORA2B, ADH1C, ADD1, ADCYAP1, ACVR2B, ACTG2, ACTG1, ACTB, ACAA1, AAVS1, ANK2, APCS, CFB, ATIC, BCS1L, OPN1SW, HCN2, BCAT1, AVPR2, ATP5PO, ATP7A, ATP5MC1, ATP4A, ATP2B1, ATP12A, ATHS, BIRC2, SERPINC1, ARSL, ARR3, RND3, RHOA, AQP5, AQP2, FASLG, APOC4, APOC2, BIRC3, CLCN2, CLCN5, FOLH1, EFNB3, EPHA4, ENO2, MARK2, ELK3, ELAVL1, EIF4G1, EIF4EBP1, EIF4A2, EGR3, EGR2, CELSR2, EFNB2, EPHX1, LPAR1, TYMP, EBM, E2F1, DUSP6, DRD3, DPYS, DPYD, DPT, DNTT, DMP1, EPHB1, ERBB3, DLD, FASN, FMO3, FLNA, FLII, FHIT, FGFR4, FGF11, GPC4, FDXR, FCP1, FCGRT, FBP1, FAP, ERG, FABP5, FABP3, F2RL2, F2RL1, EXT1, EVC, ETV3, ETFA, ESRRG, ESRRB, FBL, DMBT1, SEPTIN1, CLK2, COL17A1, CS, CRMP1, CREM, CREBBP, CRABP2, CPT1B, COX10, COX7A1, COX5B, MAP3K8, CORT, COL9A2, CSHL1, COL9A1, COL8A1, COL6A3, COL4A5, COL4A2, COL2A1, COL1A1, CNTF, CNR2, CMM, CCR1, CSF3, CST2, DIAPH2, BRINP1, CFD, DES, DEFB4A, DEFA3, DEFA1, DDX3X, DDT, AKR1C2, DCN, DBI, DBH, CYP27B1, CTAA1, CYP27A1, CYP8B1, CYP7A1, CYP2A6, CYP1B1, CYB5A, CXADR, CUX1, CTSL, CTSH, CTRL, PKM, PLA2G4A, PLEK, RBM14, SPTLC1, AGPAT1, PROCR, HYOU1, CARM1, UNC13B, CAP1, TIMM44, FAM3C, IFI30, LYPLA1, SPON1, SLC19A2, SPON2, NSA2, PEMT, ATP8A1, DLC1, CITED2, KLF2, WARS2, TCIRG1, SIGMAR1, FSTL3, SLC35A1, OLFM4, OLIG2, CCL27, BTN2A1, ADAMTS13, ESM1, LIAS, METAP2, EHD1, MALT1, FGL2, NMU, CD300C, CYP46A1, PPP1R13L, NPC2, CPLX1, WASF3, STARD10, SLC17A3, CAPN9, EBP, CD226, CTCF, IGF2BP3, IGF2BP1, USP16, ZMPSTE24, FLOT1, TREH, AIM2, GDF3, CXCL14, STXBP5L, GAL3ST1, ADAMTS2, ATG5, AKAP6, CHST3, FHL5, HOMER1, EIF2AK3, ITM2B, KIF20B, NCR1, TJP2, PEX16, TMPRSS11D, TGFBRAP1, ADGRG1, PIWIL1, ITGB1BP1, MSC, LARGE1, HACD1, SOX13, WTAP, TRIM13, MAFB, NUTF2, MPHOSPH10, TSHZ1, RBM6, HIPK3, PREB, AKT3, SCO2, KCNE2, THRAP3, EXOG, RNF10, NCOR1, SGSM2, HEPH, IP6K1, TOX, HDAC4, SART3, ECE2, AQR, EIF5B, LPIN2, NCOR2, PTPRT, MAP4K5, SLC16A7, DHDH, MCTS1, RGCC, SLC27A6, REM1, TRBV7-8, IGHD1-14, SLCO1B3, PCLO, MCAT, EIF3K, PDLIM3, SESN1, KLF15, SIT1, SERP1, IL17B, DISC1, DKK4, SIGLEC7, ACAD8, GREM1, BSCL2, PCOLCE2, CNNM1, DBNL, TBK1, HSPB8, MBL3P, CSAD, WAC, BPIFA1, TLR7, DNAJC27, IGF2-AS, GP6, IPO11, HSPA14, IRAK4, SLC35B3, G0S2, MYLIP, SLC40A1, TBX21, ERO1A, SLC2A8, SLC39A3, RHOD, PADI1, GPR132, HOOK2, CD274, CTNNA3, NUPR1, MYCBP, CHEK2, FAIM2, PSD3, SYNE1, TTC28, COBL, ARC, SIK2, FBXO28, SYT11, TBC1D9, CAND2, KDM1A, NT5C2, DICER1, RAB18, SACM1L, SBNO2, CARD8, MLXIP, COG2, ACOT7, MGAT4A, SLCO2B1, PTGDR2, AKAP13, CRTC1, NCS1, KLHL3, PANX1, PITPNC1, KIFBP, ATRNL1, TENM4, TKFC, PART1, MGAT4C, ARIH1, KLK5, TAFA5, SLC39A6, LY96, ZFPM2, BACE1, ZMYND8, DAPK2, FAM215A, SEC14L2, PES1, BRD4, TRAM1, NPTXR, TRS-AGA2-3, MLYCD, SLC33A1, ZBED1, SERPINF2, XCL1, SLC2A3, SLC1A7, SLC1A5, SKP2, SKIL, SIX3, SHC1, SRSF5, SELPLG, SDHA, CX3CL1, CCL22, SLC6A8, CCL20, CCL11, CCL8, CCL7, CCL4, CCL3, SCO1, SCN8A, SCN7A, SCN2A, SAA2, SLC5A5, SLC8A1, S100A12, SRI, TADA2A, TACR3, TAC3, TAC1, SYT4, SYT1, STXBP3, STX5, STIM1, STC1, SSTR2, SRD5A2, SLC9A3, SPRR2A, SPG7, SOX5, SOX2, SORL1, SIGLEC1, SMPD1, SLPI, SLCO1A2, SLC18A2, SLC10A2, SAA1, S100A4, TAL1, DNAJC3, PTMAP4, PTMA, PTGER3, PTBP1, PTAFR, PSMD3, PSMD2, PSMB6, PSMA7, PSG2, TMPRSS15, EIF2AK2, PTPN6, MAPK7, PRKD1, PPP1R2, POU3F1, POU2F2, PODXL, SEPTIN5, PNLIP, PMM2, PML, PMAIP1, PTPN4, PTPN11, RYR2, REG1B, RTN1, CLIP1, RPS19, RPS6KA3, RPS6KA2, RPN2, RPE, RORB, RNH1, RIT2, REV3L, REL, PTPRB, RCN2, RARB, RANGAP1, RAG1, RAB27A, RAB5B, RAB4A, PYGB, PTPRS, PTPRF, PTPRC, TAF1, TCP1, HTR3B, API5, ADAM19, MBTPS1, TNFRSF25, PAGE1, VAMP4, VAMP8, HSD17B6, JRK, KHSRP, DENR, PIAS1, CST7, TNFRSF14, DGKZ, IRS4, DOC2B, DYRK3, LOH19CR1, BRAP, PICALM, ZNF239, SLC14A2, AAAS, FOSL1, TNFSF12, RAB11A, MAFK, NOL3, PCSK7, HGS, MTMR7, USP2, USP14, PAPSS2, RPL14, CCRL2, TAF1C, F2RL3, KALRN, TRPA1, RIPK2, EIF2B5, ZPR1, FUBP1, PER3, TMEM11, BANF1, GALR2, TNFRSF11A, DLK1, TNFRSF18, SIGLEC5, ECB2, HBFQTL2, PRDX2, TLL1, HSP90B1, NR2C2, TPO, TPM4, TPM1, TOP2A, TOP1, TNFAIP3, NR2E1, TLR5, TLR1, TLE3, TRPM2, TJP1, TIMP2, TIAM1, THBS4, THBS2, TGFB2, TGFA, TFPI, TFAP2A, TERF2, TEP1, TRAF3, TST, TFEB, NSD2, LAP, PRRC2A, MANF, SLMAP, ZNF236, ZFP36, SF1, YWHAG, YY1, XDH, XBP1P1, WARS1, TNFRSF4, VPREB1, VEGFB, VDAC1, UPK2, UGT1A, UGCG, SCGB1A1, UBE2B, TYROBP, TYK2, TXNRD1, LINC02605
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Timothy Syndrome
Wikipedia
Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluation). ... These mutations are in exon 8 (atypical form) and exon 8a (classical form), an alternatively spliced exon . Exon 8a is highly expressed in the heart, brain, gastrointestinal system, lungs, immune system, and smooth muscle. ... Because exon 8 has greater expression in the heart versus exon 8a, patients with atypical Timothy syndrome have worsened cardiac defects compared to those with the classical form. ... J Am Coll Cardiol . 25 (1): 59–64. doi : 10.1016/0735-1097(94)00318-K . PMID 7798527 . ^ a b Marks M, Trippel D, Keating M (1995).
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Asthma
Wikipedia
Different individuals react to various factors in different ways. [85] Most individuals can develop severe exacerbation from a number of triggering agents. [85] Home factors that can lead to exacerbation of asthma include dust , animal dander (especially cat and dog hair), cockroach allergens and mold . [85] [86] Perfumes are a common cause of acute attacks in women and children. Both viral and bacterial infections of the upper respiratory tract can worsen the disease. [85] Psychological stress may worsen symptoms – it is thought that stress alters the immune system and thus increases the airway inflammatory response to allergens and irritants. [42] [87] Asthma exacerbations in school‐aged children peak in autumn, shortly after children return to school. ... These episodes are usually associated with widespread but variable airflow obstruction within the lung that is often reversible either spontaneously or with treatment". [23] There is currently no precise test for the diagnosis, which is typically based on the pattern of symptoms and response to therapy over time. [5] [22] Asthma may be suspected if there is a history of recurrent wheezing, coughing or difficulty breathing and these symptoms occur or worsen due to exercise, viral infections, allergens or air pollution. [89] Spirometry is then used to confirm the diagnosis. [89] In children under the age of six the diagnosis is more difficult as they are too young for spirometry. [90] Spirometry Spirometry is recommended to aid in diagnosis and management. [91] [92] It is the single best test for asthma. ... It may also be helpful in guiding treatment in those with acute exacerbations. [96] Classification Clinical classification (≥ 12 years old) [12] Severity Symptom frequency Night-time symptoms %FEV 1 of predicted FEV 1 variability SABA use Intermittent ≤2/week ≤2/month ≥80% <20% ≤2 days/week Mild persistent >2/week 3–4/month ≥80% 20–30% >2 days/week Moderate persistent Daily >1/week 60–80% >30% daily Severe persistent Continuously Frequent (7/week) <60% >30% ≥twice/day Asthma is clinically classified according to the frequency of symptoms, forced expiratory volume in one second ( FEV 1 ), and peak expiratory flow rate . [12] Asthma may also be classified as atopic (extrinsic) or non-atopic (intrinsic), based on whether symptoms are precipitated by allergens (atopic) or not (non-atopic). [13] While asthma is classified based on severity, at the moment there is no clear method for classifying different subgroups of asthma beyond this system. [97] Finding ways to identify subgroups that respond well to different types of treatments is a current critical goal of asthma research. [97] Although asthma is a chronic obstructive condition, it is not considered as a part of chronic obstructive pulmonary disease , as this term refers specifically to combinations of disease that are irreversible such as bronchiectasis and emphysema . [98] Unlike these diseases, the airway obstruction in asthma is usually reversible; however, if left untreated, the chronic inflammation from asthma can lead the lungs to become irreversibly obstructed due to airway remodeling. [99] In contrast to emphysema, asthma affects the bronchi, not the alveoli . [100] Asthma exacerbation Severity of an acute exacerbation [101] Near-fatal High PaCO 2 , or requiring mechanical ventilation, or both Life-threatening (any one of) Clinical signs Measurements Altered level of consciousness Peak flow < 33% Exhaustion Oxygen saturation < 92% Arrhythmia PaO 2 < 8 kPa Low blood pressure "Normal" PaCO 2 Cyanosis Silent chest Poor respiratory effort Acute severe (any one of) Peak flow 33–50% Respiratory rate ≥ 25 breaths per minute Heart rate ≥ 110 beats per minute Unable to complete sentences in one breath Moderate Worsening symptoms Peak flow 50–80% best or predicted No features of acute severe asthma An acute asthma exacerbation is commonly referred to as an asthma attack . ... Asthma was recognized in ancient Egypt and was treated by drinking an incense mixture known as kyphi . [21] It was officially named as a specific respiratory problem by Hippocrates circa 450 BC, with the Greek word for "panting" forming the basis of our modern name. [22] In 200 BC it was believed to be at least partly related to the emotions. [30] In the 12th century the Jewish physician-philosopher Maimonides wrote a treatise on asthma in Arabic, based partly on Arabic sources, in which he discussed the symptoms, proposed various dietary and other means of treatment, and emphasized the importance of climate and clean air. [263] In 1873, one of the first papers in modern medicine on the subject tried to explain the pathophysiology of the disease while one in 1872, concluded that asthma can be cured by rubbing the chest with chloroform liniment . [264] [265] Medical treatment in 1880 included the use of intravenous doses of a drug called pilocarpine . [266] In 1886, F.
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Malignant Hyperthermia
Wikipedia
For patients at similar risk to those in this study, this leads to a positive predictive value of 80% and negative predictive value of 100%. ... Retrieved 2016-01-06 . ^ a b Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (November 1991). ... The North American Malignant Hyperthermia Registry of MHAUS". Anesthesiology . 88 (3): 579–88. doi : 10.1097/00000542-199803000-00006 . ... "A clinical grading scale to predict malignant hyperthermia susceptibility". Anesthesiology . 80 (4): 771–9. doi : 10.1097/00000542-199404000-00008 . ... "Developing effective drills in preparation for a malignant hyperthermia crisis". AORN Journal . 97 (3): 329–53. doi : 10.1016/j.aorn.2012.12.009 .RYR1, CACNA1S, STAC3, SCN4A, BIN1, EDAR, SCN5A, TRAF6, ELP1, CRLF1, ABCA12, CLCF1, HSPG2, MTMR14, TRAPPC9, KDF1, EDARADD, NALCN, MYF6, MYH3, CHRND, CHRNG, CHRNA1, DNM2, GCDH, RYR2, CASQ1, BCHE, RUNX2, SELENON, CBS, DMD, EPHA3, CBSL, MHS2, CACNA2D1, SNRNP27, SLC24A3, MEPE, EIF3K, CACNA1C, ATP2A1, H19, AICDA, GYPA, SPAG9, GYPB, MHS3, TRPV1, FLNA, QDPR, PRODH, ARVD3, KCNA1, IL6, HTR3A, GPI, HAL, GYPE, COL4A1
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Complement Component 4b Deficiency
Omim
Associated characteristics indicated a defect in synthesis of C4 and a genetic basis thereof was indicated by the fact that C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B locus compared with 59% in controls. ... They confirmed the earlier findings of high frequencies of C4-null phenotypes and of HLA-B8,DR3 antigens. In addition, they found that among the patients most of both the C4A (120810)- and C4B-null phenotypes resulted from gene deletions.
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Mitochondrial Complex I Deficiency, Nuclear Type 32
Omim
INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive CARDIOVASCULAR Heart - Cardiac hypertrophy (1 of 2 patients) RESPIRATORY - Respiratory insufficiency MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed or absent psychomotor development - Poor interaction with environment - Seizures - White matter abnormalities consistent with Leigh syndrome seen on brain imaging - Supratentorial and brainstem atrophy METABOLIC FEATURES - Metabolic acidosis LABORATORY ABNORMALITIES - Increased serum lactate - Increased CSF lactate - Mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset in infancy - Early death may occur - Two unrelated patients have been reported (last curated January 2019) MOLECULAR BASIS - Caused by mutation in the NADH-ubiquinone oxidoreductase subunit B8 gene (NDUFB8, 602140.0001 ) ▲ Close
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Viral Disease
Wikipedia
. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx by bz ca cb cc cd ce cf cg ch ci cj ck cl cm cn co cp cq cr cs ct cu cv cw cx cy cz da db dc dd de df dg dh di dj dk dl dm dn do dp dq dr ds dt du dv dw dx dy dz ea eb ec ed ee ef eg eh ei ej ek el em en eo ep eq er es et eu ev ew ex ey ez fa fb fc fd fe ff fg fh fi fj fk fl fm fn fo fp fq fr fs ft fu fv fw fx fy fz ga gb gc gd ge gf gg gh gi Fisher, Bruce; Harvey, Richard P.; Champe, Pamela C. (2007). ... Retrieved 7 September 2020 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am Table 1 in: Dimitrov, Dimiter S. (2004). ... "Identification of Host Cell Factors Associated with Astrovirus Replication in Caco-2 Cells" . J. Virol . 89 (20): 10359–70. doi : 10.1128/JVI.01225-15 . ... Current Topics in Microbiology and Immunology . 343 : 43–89. doi : 10.1007/82_2010_37 . ISBN 978-3-642-13331-2 . ... "Hand, foot, and mouth disease: Identifying and managing an acute viral syndrome" . Cleve Clin J Med . 81 (9): 537–43. doi : 10.3949/ccjm.81a.13132 .
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Pachyonychia Congenita
Gene_reviews
Diagnosis Clinical diagnostic criteria for pachyonychia congenita (PC) include the triad of toenail thickening, plantar keratoderma, and plantar pain, which is present in 97% of individuals with genetically confirmed PC by age ten years [International Pachyonychia Research Registry, Eliason et al 2012]. ... Molecular Genetic Testing Used in Pachyonychia Congenita (PC) View in own window Gene 1 Proportion of PC Attributed to Pathogenic Variants in Gene 2, 3 Proportion of Pathogenic Variants 4 Detectable by Method Sequence analysis 5 Gene-targeted deletion/duplication analysis 6 KRT6A 304/774 (39%) >99% Unknown 7 KRT6B 70/774 (9%) >99% Unknown 7 KRT6C 22/774 (3%) >99% Unknown 7 KRT16 247/774 (32%) >99% Unknown 7 KRT17 8 130/774 (17%) >99% Unknown 7 1. ... International Pachyonychia Congenita Research Registry (IPCRR) Data Summary (as of 10 May 2017) View in own window Gene in Which Pathogenic Variants Were Confirmed KRT6A KRT6B KRT6C KRT16 KRT17 TOTAL Number evaluated for finding 1 304 71 22 247 130 774 Toenails thickened 10 toenails 286 (94%) 26 (37%) 0 (00%) 99 (40%) 100 (77%) 511 (66%) 7-9 toenails 9 (03%) 14 (20%) 0 (00%) 52 (21%) 11 (08%) 86 (11%) 4-6 toenails 2 (01%) 21 (30%) 3 (14%) 63 (26%) 7 (05%) 96 (12%) 1-3 toenails 4 (01%) 9 (13%) 10 (45%) 44 (18%) 8 (06%) 75 (10%) Total w/toenails thickened 301 (99%) 70 (99%) 13 (59%) 238 (96%) 126 (97%) 748 (97%) Age at onset Birth - <1 yr 264 (88%) 10 (14%) 1 (08%) 45 (19%) 92 (73%) 412 (54%) 1-4 yrs 33 (11%) 19 (27%) 6 (46%) 78 (33%) 24 (19%) 160 (21%) 5-14 yrs 4 (01%) 34 (49%) 4 (31%) 74 (31%) 10 (08%) 126 (17%) ≥15 yrs 0 (00%) 7 (10%) 2 (15%) 43 (18%) 1 (01%) 53 (07%) Fingernails thickened 10 fingernails 271 (89%) 4 (06%) 0 (00%) 73 (30%) 62 (48%) 410 (53%) 7-9 fingernails 10 (03%) 4 (06%) 0 (00%) 11 (04%) 13 (10%) 38 (05%) 4-6 fingernails 14 (05%) 17 (24%) 0 (00%) 30 (12%) 28 (22%) 89 (11%) 1-3 fingernails 6 (02%) 7 (10%) 0 (00%) 28 (11%) 9 (07%) 50 (06%) Total w/fingernails thickened 301 (99%) 32 (45%) 0 (00%) 142 (57%) 112 (86%) 587 (76%) Age at onset Birth - <1 yr 267 (89%) 4 (13%) 0 (00%) 33 (23%) 85 (76%) 389 (66%) 1-4 yrs 30 (10%) 8 (25%) 0 (00%) 42 (30%) 19 (17%) 99 (17%) 5-14 yrs 3 (01%) 11 (34%) 0 (00%) 34 (24%) 6 (05%) 54 (09%) ≥15 yrs 1 (00%) 10 (31%) 0 (00%) 34 (24%) 3 (03%) 48 (08%) Plantar keratoderma Always (never completely goes away) 254 (84%) 67 (94%) 19 (86%) 240 (97%) 86 (66%) 666 (86%) Sometimes (feet clear up completely at times) 7 (02%) 1 (01%) 0 (00%) 1 (00%) 14 (11%) 23 (03%) Seldom (feet usually clear of symptoms) 5 (02%) 0 (00%) 0 (00%) 0 (00%) 4 (03%) 9 (01%) Total w/plantar keratoderma 266 (88%) 68 (96%) 19 (86%) 241 (98%) 104 (80%) 698 (90%) Age at onset Birth - <1 yr 39 (15%) 2 (03%) 1 (05%) 23 (10%) 12 (12%) 77 (11%) 1-4 yrs 152 (57%) 23 (34%) 9 (47%) 130 (54%) 35 (34%) 349 (50%) 5-14 yrs 70 (26%) 42 (62%) 9 (47%) 82 (34%) 43 (41%) 246 (35%) ≥15 yrs 5 (02%) 1 (01%) 0 (00%) 8 (03%) 15 (14%) 29 (04%) Plantar pain w/plantar keratoderma 2 Often require medication for pain 65 (24%) 12 (18%) 5 (26%) 74 (31%) 19 (18%) 175 (25%) Very painful, but do not use medication 114 (43%) 32 (47%) 11 (58%) 111 (46%) 34 (33%) 302 (43%) Somewhat painful 77 (29%) 24 (35%) 3 (16%) 50 (21%) 36 (35%) 190 (27%) Total w/plantar keratoderma/pain 256 (96%) 68 (100%) 19 (100%) 235 (98%) 89 (86%) 667 (96%) Palmar keratoderma Always (never completely goes away) 86 (28%) 11 (15%) 2 (09%) 148 (60%) 21 (16%) 268 (35%) Sometimes (hands clear up completely at times) 32 (11%) 7 (10%) 1 (05%) 15 (06%) 22 (17%) 77 (10%) Seldom (hands usually clear of symptoms) 49 (16%) 13 (18%) 3 (14%) 22 (09%) 27 (21%) 114 (15%) Total w/palmar keratoderma 167 (55%) 31 (44%) 6 (27%) 185 (75%) 70 (54%) 459 (59%) Additional findings Oral leukokeratosis 269 (88%) 18 (25%) 4 (18%) 88 (36%) 34 (26%) 413 (53%) Cysts 188 (62%) 49 (69%) 4 (18%) 64 (26%) 121 (93%) 426 (55%) Follicular hyperkeratosis 162 (53%) 30 (42%) 0 (00%) 30 (12%) 86 (66%) 308 (40%) Natal or prenatal teeth 12 (04%) 0 (00%) 0 (00%) 0 (00%) 99 (76%) 111 (14%) 1.
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Cholangiocarcinoma
Wikipedia
For non-resectable cases, the 5-year survival rate is 0% where the disease is inoperable because distal lymph nodes show metastases, [88] and less than 5% in general. [89] Overall mean duration of survival is less than 6 months in people with metastatic disease. [90] For surgical cases, the odds of cure vary depending on the tumor location and whether the tumor can be completely, or only partially, removed. ... "Incidence of primary cholangiocellular carcinoma of the liver in Japanese patients with hepatitis C virus-related cirrhosis". Cancer . 88 (11): 2471–7. doi : 10.1002/1097-0142(20000601)88:11<2471::AID-CNCR7>3.0.CO;2-T . ... New England Journal of Medicine . 336 (26): 1889–94. doi : 10.1056/NEJM199706263362607 . ... PMID 9725291 . ^ Zhang Y, Uchida M, Abe T, Nishimura H, Hayabuchi N, Nakashima Y (1999). ... American Journal of Gastroenterology . 96 (4): 1164–9. PMID 11316165 . ^ Nakeeb A, Tran KQ, Black MJ, Erickson BA, Ritch PS, Quebbeman EJ, Wilson SD, Demeure MJ, Rilling WS, Dua KS, Pitt HA (October 2002).TP53, IDH1, IDH2, RNF43, KRAS, PTGS2, IL6, EGFR, FGFR2, ERBB2, BRAF, PTEN, BAP1, PRKACB, SMAD4, MSLN, GNAS, SLC5A5, PTPN3, ARID1A, NOS2, PBRM1, PRKACA, PEG3, ROBO2, KMT2C, MET, TGFB1, HGF, MUC1, MMP9, MMP2, NR1H4, SOX17, EPOR, TNC, MUC4, TGFBR2, EPO, DCTN4, AKT1, SP140, KRT19, GPR35, MCL1, CDKN2A, MST1, CD274, BCL2, SP110, TNF, IFNL3, TCF4, STAT3, CTNNB1, VEGFA, MIR21, CEACAM5, MAPK1, ROS1, PIK3CA, MTCO2P12, COX2, ALB, AFP, ASPH, CXCL12, CEACAM3, MIR122, FBXW7, NQO1, CEACAM7, KDR, EZH2, FBN2, EGF, DNMT1, CCND1, GPBAR1, TNFSF10, PPFIBP2, YAP1, CXCR4, PSG2, PROM1, PIK3CG, PIK3CD, PIK3CB, NOTCH1, MIR34A, EPHB2, GRAP2, POLDIP2, RNF19A, RASSF1, ESR1, AHSA1, MTHFR, HPGD, SLC7A5, NEK2, AIMP2, VDR, IFI27, TERT, IL10, MAP2K7, PPARG, SFRP1, H3P10, APC, CASP3, CRK, CDKN1B, MAPK14, CD44, DAPK1, MUC5AC, SPRR2A, FOXM1, KHDRBS1, DCTN6, NFE2L2, POU5F1P4, MIR200B, MUC2, AFAP1-AS1, POU5F1P3, NR1I2, SLC22A1, ZNRD2, GATA6, KLHL1, AICDA, CBR1, PDR, CDK2, ABCB1, PKM, PSMD9, POU5F1, TMED7, MAPK3, GABPA, UCA1, MIR192, RHOC, LCN2, ABCC2, XIAP, SOX2-OT, IL6R, TMED7-TICAM2, LOXL2, HDAC3, TICAM2, DCC, H3P23, ACE, SYCE1L, MAOA, IL33, MDM2, MUC16, EPCAM, TLR4, CD47, L1CAM, PHB, WWOX, C17orf97, KRT20, KIT, PPIA, PPARD, RPSA, NOTCH3, MEG3, TP73-AS1, LDHA, OGG1, SARNP, LGALS3, CDK4, NOS3, PDGFD, MYC, MUTYH, TACSTD2, CHRNA4, CDX2, ARHGAP24, ALOX5, PDCD4, PRKAR1A, STS, BAX, ANXA5, TFF1, DLC1, TGM2, APEX1, TP73, HDAC6, TPM1, HSP90B1, TYMS, VIM, MAP2K1, XRCC1, AQP1, CLOCK, FAS, NR0B2, SLC9A3R1, S1PR2, ABCB11, ABCC3, SOCS3, SQSTM1, PDPN, POSTN, ZEB1, SST, FOXP3, IL22, CD14, PYCARD, CCNB1, CCK, PTPN6, ITGB1, RAF1, BBC3, RARG, LAT, NUP62, SMUG1, CBX5, SCTR, BSG, SLC22A3, SNAI2, FSCN1, SOX2, SOX4, SPP1, MIR106B, NAT1, CRYZ, MIR200C, IL1B, HSP90AA1, FOXO3, GCG, HIF1A, HK2, IGF2, MIR204, HOXD9, FHIT, CRP, FBP1, HMOX1, MIR494, FOXO1, FOLH1, MIR186, MIR29A, FLT4, CD24, MIR149, FLT1, NNT-AS1, GSTP1, GLI1, GPC3, MIR221, IRF1, GRN, HES1, MIR210, CXCR2, PTK2B, GLP1R, MIR551B, GSTT1, LOC110806263, SFN, F2RL1, MIR370, GTF2H1, CTLA4, ZHX1, ANXA2, HRH3, METAP2, ANXA4, IGF2BP3, FLVCR1-DT, COPS5, KCNQ1OT1, PAPOLA, MALT1, MRPS30, HPSE, GGTLC5P, MIR10A, MORC2, PARK7, MIR483, GNMT, INTU, MIR361, ACAD8, ANGPT2, WWTR1, ANXA1, MIR378A, DCAF12, SHC2, SNHG1, MIR383, DUXAP9, BRD4, MIR429, SIRT3, ARL6IP1, MIR410, TBC1D9, ZNF423, SIRT2, MMRN1, KLRK1, TUSC2, MIR485, MIR490, PDAP1, RAD51AP1, KAT5, NME1-NME2, HTATIP2, SPRY4-IT1, ZFYVE9, COMMD3-BMI1, KLRC4-KLRK1, ABCG2, GSTO1, PTGES, CHD1L, CCAT1, PCAT6, CREB5, PRDX6, WTAP, ABCG1, LINC01503, CD163, TRIP10, PANDAR, MTA1, LNCRNA-ATB, SPHK1, MCM3AP, AADAC, PKD2L1, USP14, NEURL1, BLACAT1, EBAG9, TMSB10, CDR1-AS, DCLK1, PTTG1, COPB2, SETD1A, HDAC4, MIR1299, MIR92B, TSPAN1, LRPPRC, MAGED4, ABI2, GGTLC3, AKR1A1, MIR637, GGT2, MIR622, TACC3, SEMA4D, CIB1, MIR340, MIR612, PDCD6IP, HULC, MAGI2, WDR1, LMCD1-AS1, LOXL1-AS1, TLK1, NUAK1, KLHL21, DLEC1, SLC23A2, SRA1, FGF19, NR1I3, BIRC3, ZGLP1, NR2E3, GGTLC4P, BHLHE22, ASAP1, MIR330, NLRP3, MIR22HG, MIR191, DNER, MIR15A, BMS1P20, AZIN2, MIR155HG, PWAR1, LRG1, RBM45, CKS1BP7, ACTRT1, GATA5, LINC00261, MIR195, DPY30, MIR199A1, HSDL2, MINDY4, SESN2, MIR199A2, MAGED4B, MIR19A, MIR200A, SLC38A1, MIR203A, TET1, ACTB, ZNF703, WLS, EHMT1, PRIMA1, PDIK1L, NEIL1, C1QL3, MIR144, MIR141, MIR140, LINC-PINT, MALAT1, MIR132, FENDRR, APLNR, MIR129-2, TEX41, LINC01061, MIRLET7C, MIR126, MIR106A, MACC1, GADL1, MIR145, FFAR4, RAB7B, TRIM59, MIR146A, NEK8, NEAT1, H19, AP2A1, COMMD6, CBLL2, AGR3, MIR150, MIR152, DAB2IP, VTCN1, MUL1, MAGEH1, TLR7, LEF1, CLDN18, CDKL3, ACP3, GOLM1, MIR31, ZBTB7A, UGT1A10, ZMYND10, SIRT7, GDE1, SRRT, MPC1, MIR30E, MIR99A, EGFL7, MIR17HG, SDF4, ANGPTL4, TNNI3K, PI15, ZFAS1, PARP1, XRCC6P5, RRM2B, MIR151A, ERO1A, ALOX15, MIR324, SETD2, ASAP1-IT1, MIR30D, ALDOA, SLC52A2, ABCG8, SALL4, MIR23B, MIR222, ALCAM, AFAP1, ALX4, AHSG, TUG1, CRTC3, SPATA20, MARCKSL1, MIR22, ASAP2, PAGR1, AKR1B10, ACKR3, CA10, SPHK2, ERBIN, PBK, LAPTM4B, MIR25, ALDH1A1, MIR26B, CCDC25, ALDH1A3, MTPAP, MIR296, PIWIL2, AKIRIN2, SLC52A1, GGCT, GADD45A, APOA1, MAGEA3, KRT18, CKS1B, LAMC2, STMN1, LASP1, LCK, LDLR, LEP, LGALS1, LGALS9, LIF, LMNA, LPA, MARCKS, SMAD2, CISH, MAFG, KRT7, CKS2, KPNA2, CXCL8, IGF1, IGF1R, IGF2R, IGFBP7, IL2, PLK3, IL6ST, IL13, KIR3DL1, IL17A, PDX1, IRF4, IRF6, ITGA9, ITPR3, CLTC, MAGEA1, MCM7, CCN4, MDK, MST1R, MSX2, CDO1, CDKN3, CDKN2B, MUC6, GADD45B, CEACAM6, NCAM1, CDKN1A, NEU1, NF1, NFKB1, NGF, NM, NME2, CDK7, CDX1, MSH2, ABCC1, MITF, MAP3K1, MEN1, CFTR, MFAP1, SCGB2A1, MGMT, CXCL9, MLH1, MRC1, KMT2A, MME, MMP1, CETN1, MMP3, MMP7, MPO, IGBP1, IFNG, IFNA13, IFNA1, CYP1A2, ERCC1, CYP1A1, ESR2, ETV4, MECOM, CTSB, F2, F2R, FANCC, FAT1, CTNND1, FCGR3A, FCGR3B, FGFR1, FGFR4, NR5A2, EPS8, CYP19A1, CYP24A1, EEF1B2P2, DMBT1, DNMT3B, DPP4, E2F1, ECM1, EDN1, EDNRB, EFNB2, CYP27B1, DAP, EGI, EIF4E, ELAVL2, ELAVL1, MARK2, ENO1, GAST, FUT1, FUT2, HSPA5, ONECUT1, HOXA9, HOXB7, HOXD10, HRAS, HSF1, HSPA4, HSPD1, HMGA1, DNAJB1, HTR1A, ID3, CLDN7, CP, MAP3K8, COL11A2, HNF4A, HMGB1, FUT3, CSNK2B, GALNS, GATA3, GEM, GFER, GGT1, GJA1, GLUL, GNB3, HMBS, GPC1, GSK3B, GSTA3, GSTM3, HDAC1, NRG1, HHEX, NOTCH2, SLC11A2, NRAS, SLC3A2, TF, TFAP2A, TFF2, TFRC, TGFA, ATM, TGFB2, TGFB3, ATF3, TIAM1, TIMP1, TIMP3, ZFHX3, TNFRSF1A, DECR1, TPD52, TPH1, TEK, PPP1R11, TCTE3, SSTR2, SLC4A2, SLC22A2, SOD2, SPTB, SPTBN2, SRC, SSAV1, ST14, TCF21, STAT1, BMI1, STK11, SULT1A1, TAC1, SERPINA7, BCL9, TPT1, TTR, UBE2N, URI1, RECK, CUL4B, APOE, IKBKG, NCOA1, DYNLL1, BECN1, EED, TAM, RIPK1, APOB, TNFRSF6B, TNFRSF18, CES2, NRP1, CFLAR, APRT, NCOA3, UCHL1, WNT2, UCP2, SCGB1A1, UGT1A, UMPS, USF1, VDAC1, VEGFC, XPO1, MIA, YWHAZ, ARG1, SEMA3B, RAB7A, MFAP5, KMT2D, FASLG, SLC4A1, SKP2, YBX1, FBXW4, SERPINA1, CDH6, CDH1, CDK1, CDA, PKD2, PLA2G4A, PLAT, PLAU, PLG, PLK1, PMAIP1, SEPTIN4, PODXL, POU2F2, PPBP, PPL, ABCB4, ATP8B1, PER1, PAEP, NT5E, NTRK1, NTS, OPCML, ORM2, OSBP, P2RX7, SERPINB2, PECAM1, REG3A, PRKN, PAWR, PCNA, PDCD1, PDGFRB, PDHA1, PPP1R1A, PTPA, PPP5C, S100A2, RB1, REST, RMRP, RNASE3, RNF2, CAT, RPLP1, S100A6, RANBP2, S100A8, SAFB, SCT, CXCL5, SDC1, NAT2, SFRP4, RARB, RAC1, CD40LG, PROX1, PRKCI, CD40, MAPK7, MAPK8, MAPK13, MAP2K2, CD34, PRSS2, PVT1, PSMA3, PSMD10, CCNE1, PTGER1, PTK2, PTK6, PVR, ASS1
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Poems Syndrome
Wikipedia
A second cytokine, IL-12 , is similar to VEGF in being highly correlated with the disease activity level in POEMS syndrome. [2] Minor criteria Organomegaly: Enlargement spleen, liver, and/or lymph nodes occurs in 45% to 85% of cases. [7] Extravascular volume overload: Ascites, pleural effusions, pericardial effusions, and/or lower extremity edema occur in 27% to 89% of cases. [7] Endocrinopathy: Gynecomastia occurs in 12% to 18% of cases; endocrine abnormalities involving the regulation of gonadotrophins , adrenal gland corticosteroids , and prolactin occur in 55% to 89%, 16% to 33%, and 55 to 20% of cases, respectively. ... Current Hematologic Malignancy Reports . 12 (2): 85–95. doi : 10.1007/s11899-017-0367-0 . ... "POEMS syndrome: 2014 update on diagnosis, risk-stratification, and management" . American Journal of Hematology . 89 (2): 214–23. doi : 10.1002/ajh.23644 . ... Canadian Journal of Ophthalmology . 51 (1): e8–10. doi : 10.1016/j.jcjo.2015.08.015 . ... "Treatment of POEMS syndrome with bevacizumab" . Haematologica . 92 (10): 1438–9. doi : 10.3324/haematol.11315 .
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Hepatitis C
Wikipedia
"A path to eradication of hepatitis C in low- and middle-income countries" . Antiviral Research . 119 : 89–96. doi : 10.1016/j.antiviral.2015.01.004 . ... "Liver Failure due to Acute Viral Hepatitis (A-E)" . Visceral Medicine . 32 (2): 80–5. doi : 10.1159/000444915 . PMC 4926881 . ... Ernst Schering Research Foundation Workshop . 55 . pp. 99–120. doi : 10.1007/3-540-30822-9_7 . ... Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics . 86 (1): 8–22. CiteSeerX 10.1.1.852.7880 . doi : 10.1016/S1079-2104(98)90143-3 . ... "Occult infection with hepatitis C virus: friend or foe?". Immunology and Cell Biology . 90 (8): 763–73. doi : 10.1038/icb.2012.20 .IFNG, IFNA2, CD81, IFNL3, HFE, DDX58, SCARB1, CCR5, CYP2A6, CYP3A4, LPL, PTPRC, LOXL2, OPRM1, LOX, MIR181C, IFNL4, MERTK, RTN4, ARG1, GPR158, PIK3CA, KIR3DL1, PLAAT4, GEM, VEGFA, RAF1, MAVS, BRD4, PIK3CB, PIK3CD, PIK3CG, KIAA1549L, ITPA, KIR2DL3, CDKN2A, SERPINB6, ERVW-1, SOCS3, CAV3, IFNL1, LDLR, CCL5, SDK2, CD14, GPT, CXCR3, MIR7-3HG, TNFSF10, CBLIF, HAMP, HSF4, SOCS1, CDKN1A, ARHGAP26, KRAS, TLR7, CLDN7, IRF3, VIPR1, EIF2AK2, MIR21, CXCL8, IL7R, TGFB1, SPP1, IL6, IL4, IL2, EGFR, IL1B, CD274, SERPINA13P, EPO, MIR122, IFNB1, FBL, STAT3, F2, RBM45, IFNA13, STAT1, PTGS2, MAPK1, IL10, PKIB, PTPN11, VDR, ARTN, SLC17A5, UBE2B, CTAA1, CTLA4, CTNNB1, CXCL10, GGTLC1, AGO2, FOXP3, PPARA, SOAT1, IL18, TP53, PPIA, TNF, TLR4, TLR3, TLR2, IL22, SPATA16, IFNA1, BMPER, OAS1, GLT8D2, LNPEP, CCL4, AFP, NCAM2, CCL2, ADIPOQ, MX1, ERVK-32, AGRP, IFNL2, OCLN, HLA-B, MICA, HLA-A, ERVK-20, RIT2, ALB, RNF7, BCL2, BRD2, HLA-C, HMOX1, NFE2L2, APOE, REXO1L1P, HLA-DRB1, FAS, RTEL1, CAP1, CLDN1, HLA-DQA1, NM, PAEP, ROBO3, SORBS1, ERVK-6, MBL2, LOC102724197, PNPLA3, HACD1, APOB, MTTP, OXTR, NR1D2, CYP2D6, ISG15, CCL4L1, IVNS1ABP, NCAM1, APOA1, HAVCR2, CASP3, IRS1, ESR1, IL1A, CCL4L2, TICAM1, FASN, HLA-DQB1, PTEN, PI4KA, LEP, ISYNA1, TLR9, IFIH1, SLCO6A1, PDCD1, GSTK1, TLR8, MBL3P, TRBV20OR9-2, SOS1, PCSK9, AKT1, IRF7, IFNAR2, TRIM69, NOS2, CRP, DDX3X, ACTB, SRC, IL1RN, IL17A, EIF2S1, CYP2E1, PSME3, IL7, IL12B, NLRP3, IRF1, GGTLC5P, IL21, CD38, GGTLC3, COX8A, CD68, GGT1, EIF3A, CCR2, GGTLC4P, CDR3, ISG20, SQSTM1, GABPA, SERPINA1, GGT2, NS2, EGF, DNMT1, ABCB11, BID, IL2RA, HNF1A, KRT20, MS4A1, EIF2S3, CXCL11, SIRT1, HLA-G, MIR155, TBK1, KIR2DS2, CD209, COX2, IFNAR1, TM6SF2, EIF2S2, SSB, LGALS3BP, CHP1, GOLM1, MTCO2P12, CASP1, CYP2B6, G6PC, KHDRBS1, MTOR, PPIP5K1, SLC12A9, IFNLR1, SOD2, ITIH4, HM13, SMIM1, CXCL12, IGH, LGALS9, USP18, NUP62, HNF4A, LINC02605, HLA-DPB1, CNBP, HSP90B1, UROD, FCGR3B, FCGR3A, EPHB2, HAVCR1, ADAR, MTHFR, MMP9, LIPA, NFKB1, SLC4A1, SEC14L2, DHCR24, IL15, HPGDS, VIM, DCTN4, CCND1, SERPINE1, GOLPH3, LTA, GTF2H1, MIP, DEPDC5, KIR2DL2, NTSR1, THPO, ICAM1, CLTC, TBX21, DPP4, MYC, APC, MAPK8, TERT, CD163, GAK, NRSN1, FOXO1, SCD, GZMB, HSP90AA1, FCN2, GAPDH, SDC1, EMB, HRAS, IL27, SLC2A2, HGF, RNASEL, GDE1, SREBF1, IFIT1, LINC01672, C1QBP, AAK1, CD9, CD19, CD27, CD28, CD86, MIR146A, CD40LG, LAG3, CD69, DGAT1, KRT18, ABCB1, KIR3DS1, TPPP, LSAMP, NR0B2, ATG5, MRC1, ACACA, H3P19, MPO, MT1B, PLIN2, LOC110806263, LOC107987479, AHR, CXCL9, CD99, PLIN3, BMS1, TMED2, SMOC1, CHI3L1, CD40, PPARG, MAPK14, IGF2, WDR11, SLC29A1, MAPK3, PPP2R3B, RETN, TNFRSF1A, MIR223, MIR27A, BOC, RSAD2, LAMP3, HLA-DRB3, IL17D, CPT1A, JUN, JAK1, AICDA, PI4KB, MCL1, NF2, MDM2, MFAP1, UBASH3B, IL10RB, UGT1A7, SMAD7, MMP1, IGHG3, HLA-E, MBOAT7, CYP2R1, KIR3DL2, PTBP1, HSPA8, SMYD3, SMAD3, PRDM6, PDIK1L, IRF2, PTBP2, INSRR, TRIM27, PCBP2, LEPR, OSBP, IRF5, LAMP1, IDO1, POMC, KIR2DS1, PELI1, OAS2, PPIB, MAP1LC3B, RAB5A, FAM107B, RRM2, CABIN1, POLDIP2, RNF19A, XRCC1, TRIM25, AIMP2, SLC14A2, HCC, CRK, AP2M1, MCF2L, CEBPB, UCA1, CDSN, CDKN2B, VTN, MIR373, GBF1, CYP2C9, TIMP1, MIR215, TLL1, DDOST, MIR221, CYP27B1, IL37, USF1, CYP1A1, TRAF6, CUX1, TRIO, CCN2, UBE3A, CDH1, KLRK1, TGFBR1, ABCD1, APOC1, APOA2, ANXA6, ANGPT2, ERVK-19, AHSA1, CLEC4M, APRT, AGT, IFI44, ATG7, ACTG1, RACK1, ABO, MASP2, SUB1, PER2, GRAP2, CAT, CASP8, CLDN6, SLC28A2, DCLK1, VAPA, NCR1, BTG3, BCL6, ERVK-9, APOBEC3B, BACH1, ATM, SART3, MIR200C, CR2, TGFB2, GP2, EPHA3, EPHX1, IL23A, GSK3B, FN1, UTS2R, STAT5B, STAT5A, ESR2, TAP2, STAT2, GPC3, MIR130A, MIR125A, GCG, NOX4, IFI6, FOXO3, TAP1, ERBB2, MIR182, ATN1, TAPBP, TAT, EIF4A2, EIF4A1, S100A9, DCAF1, EIF5B, GDF15, SELENOP, RB1, UGT1A1, PPP1R12C, SET, RXRA, TNFRSF11B, SRSF4, SEMA4D, EIF2AK3, NDRG1, ABCG2, SHBG, CREB3, ADAMTS13, HERC5, WDHD1, RTN1, SLC25A1, CBFA2T2, DCTN3, RMDN1, HDAC9, NPC1, DDX56, NHS, DHX58, XRN1, MYD88, SERPINB3, SRL, CCL3, NCL, FUNDC2, IGF2BP1, SAA1, TNFSF13B, NR1H3, CCL8, HCP5, CCL14, ABCB6, S100B, MUC1, TRIM22, NME1, IRF9, NOTCH1, RNH1, CCL27, HPSE, MRPL28, SLPI, ATG14, HSPB3, XBP1, ATRNL1, CLIP1, RMDN3, PLAU, CLIP2, VWF, NAT10, PTPN22, RACGAP1, PSMB8, SUMO1, SYBU, AKR1B10, TNFSF4, NXT1, B3GAT1, TPT1, TPMT, TP73, PDLIM3, TNFRSF1B, TCF7L2, TERC, PPP2CA, MYDGF, TJP1, TIMP2, TFRC, PKN2, PIK3R2, PIK3R1, IGAN1, CXCR4, PHB2, ARHGEF7, APOBEC3G, NR1I2, PCBD1, CDK5R1, TGFA, TNFRSF10A, SPINT1, MBTPS1, BECN1, ENPP2, MARCHF1, PGF, SEMA6A, OASL, USO1, ATG16L1, MSH2, KIDINS220, PIAS1, PMPCA, AP3B1, SREBF2, PPP1R13B, ULK1, SLC40A1, ST14, STAT4, TNFAIP8L2, H3P10, ERN1, FOSB, FLNB, FLNA, FGL1, FBN2, FAP, PTK2B, MIR145, F5, EXT1, ETFA, MIR148A, MIR150, MIR152, EIF4G1, EIF4EBP1, EPHA2, MIR196A1, SLC26A3, DNMT3B, DYNC1H1, SARDH, DHCR7, DECR1, DDIT3, DDB1, DCX, ACE, FOS, FPR2, IGF1, FTH1, IFNA6, IFI27, HSPA5, HPS1, HJV, RMDN2, FOXA2, HFM1, TENT2, HMGB1, HLA-DRB4, ARID2, HLA-DOB, TIGIT, HK2, HINT1, NCR3, GUSB, ASPM, GSTT1, GSTM1, CXCL1, GPX2, GPX1, GLP1R, GLI3, GC, DCC, MIR222, MIR224, MIR26B, CD80, CCNG1, ZGLP1, KRIT1, CASP9, CALM3, CALM2, CALM1, MIR208B, H3P36, KLRC4-KLRK1, BCHE, AXL, ATHS, ERVK-11, ARNTL, ARF4, MYMX, FASLG, APOH, APOC3, APCS, ANXA2, ALPP, ALDH2, AGA, H3P9, CD34, CD36, CD44, KIR2DL5B, CYP2D7, CYP2C19, CYP1A2, MIR30A, MIR34A, CSF3, CSF2, MIR196B, CRHR2, CREM, ATF2, CR1, KLF6, POTEF, MIR499A, CNR1, ABCC2, CCR6, CCR3, MIR483, CISH, CKB, CHUK, CES1, CDKN1B, CDC42, IFNGR2, NXF1, LGALS1, POLDIP3, EHMT1, NTPCR, JUNB, CAMKMT, JUND, MICB, SARNP, CXCR2, IRAK1, IL10RA, CD82, ARHGAP24, NANOG, KLRB1, KRT7, NT5C1A, TACSTD2, EPCAM, IL12A, KLRC1, ASRGL1, IL13, KLRD1, ILF3, MTG1, MLH1, KRT19, MCM7, LBR, MAGEA3, MNAT1, LIPE, TSLP, MMP2, LIG4, ITGA2B, ITGA2, MME, ITGAX, LBP, MCM2, LPAL2, EIF2A, MIR758, FAM72A, RNA28SN5, PRB2, KIF1B, FAM72B, HHIP, TBC1D9, H3P38, TPX2, ERC1, CARD8, GORASP1, APOL3, MIR636, MPIG6B, DKK1, NORAD, RAB18, YTHDC2, MMRN1, KRT8P3, KDM1A, MIR629, MIR619, SMG1, CNOT1, SETD7, QPRT, POU5F1P4, COP1, MIR146B, SHC2, FBXL2, PART1, MIR511, MIR491, SLC28A3, KRT23, SESN2, MIR425, MIR375, LDLRAP1, ERVK-7, PHGDH, GAS5, MIXL1, MIR345, MIR335, IL1RAPL2, BCL2L12, MIR494, IFIT5, ERVK-8, ARHGEF9, SMIM10L2B, LARP1, NUAK2, GPR161, POU5F1P3, PDCD1LG2, TRIM56, MIR503, FKBP8, RAB1B, SMOC2, MIR501, FCRL4, CD2AP, PPP1R15A, RILP, OSBP2, XRN2, ATF7IP, GABARAP, PARTICL, CXCR6, CD226, DCTN6, LOC102724971, EBP, LOC102723407, PTGES3, KDM5B, MAPKAP1, SEMA3B-AS1, PPARGC1A, FTO, SAMMSON, STARD3, GGCT, TOMM34, LPCAT1, ERVK-24, ERVK-25, HEIH, ERVK-18, CELF1, UPK3B, SPINT2, NLRX1, H3P11, H3P28, H3P24, CIB1, H3P23, H3P17, H3P8, H3P13, ZNRD2, MCS+9.7, SUV39H2, CXCL13, RN7SL263P, CREST2, PDLIM5, ERLIN1, PDPN, CREST1, RAD51AP1, CERNA3, RAB40B, ZC3H12A, HOTAIR, EBNA1BP2, EDEM3, CASC11, RASSF1, CD24, SYCE1L, RNF139, SOD2-OT1, PACSIN2, EGOT, ULBP1, UBE2Z, WNK1, ACD, MIR885, SNF8, PINK1, GALNT8, MIR216B, SLCO2B1, MIR147B, CD300A, NUDT3, SLC7A9, BTN3A2, RPL17-C18orf32, ERVK-21, TMED10, RAB32, IMMT, ERVK-10, SLC27A4, SLC27A2, APOC4-APOC2, IL24, GTF2A1L, RPP14, LY75-CD302, MIR3648-1, STON1, TMED7-TICAM2, PIM2, MIR1304, MIR1231, MIR1247, H3P20, MIR942, MIR30B, HSPB8, BCCIP, SPECC1, PTF1A, CASC2, NEIL2, AZIN1, RBM24, NEURL3, SF3B6, MED19, CRTC2, UGGT1, PPIL1, GHRL, CD244, CTNNBL1, ERAP1, IGSF8, CLEC4C, ZFYVE1, SLC30A8, ZC3HAV1, ARNTL2, LIX1, CHPT1, GLTP, UNC5A, MARCHF2, STING1, ARMH1, RAB7B, IFNE, STON1-GTF2A1L, PLA1A, CRLF3, OR10A4, DDX41, TMED10P1, UBE2J1, CAVIN1, DCDC2, MTDH, NCKIPSD, CINP, CMC2, POLE3, APOM, PLIN5, CARD16, NCOA7, CD200R1, AP1S3, TDP1, MED9, TAF8, WRAP53, IFT122, TBC1D20, ARL8B, TMEM132A, HHAT, ADI1, CYCSP25, FBXW7, DDX19A, LAPTM4B, IMPACT, OSBPL1A, VAC14, TUG1, UCKL1, HDAC8, FEV, TREM1, USE1, BTLA, SMOX, PLB1, IL23R, CAVIN3, APCDD1, CRLS1, IL17F, ODR4, CD300LF, VTI1A, AHI1, RSS, DYM, SIDT1, NSUN2, RNF125, CDCA5, HSD17B13, GP6, IRGM, MIR204, TNRC6A, UBE2S, MAP1LC3A, TRIB3, MIR217, MIR216A, SGSM3, SPG16, TNRC6C, KLHL1, MIR25, IGHV4-59, IGHV3-52, MIR200B, ZGPAT, MIR200A, IGHV1-69, IGHV1-3, MIR20A, IGKV3-20, ZNF410, TNFRSF21, TICAM2, SND1, MIR99A, MIR98, MIR93, AGO1, IL36RN, MIR34B, HBP1, HPSE2, ATP2C1, PGLYRP2, VPS4A, KAT8, MIR301A, MIR29B2, MIR29B1, MIR29A, NAAA, MIR27B, ASCC2, SCAF1, MIR19A, RPTOR, MIR192, IGK, MIRLET7G, MIRLET7C, MIRLET7B, IL20, LINC01194, MYO18A, KIR2DL5A, SALL4, SMIM10L2A, TRAT1, MIR188, WNT3A, TMED5, TMED7, HDDC2, NDUFA13, KMT5AP1, CHCHD2, JPT1, TBPL2, MIR101-1, MIR126, DNAJC5B, ITPRIP, LAMTOR2, MIR185, DGAT2, MRPS18B, FLVCR1, MIR17, PYCARD, BRD7, CREB3L3, MIR149, NPC1L1, SPSB2, NEIL1, ALG10, MIR136, HILPDA, IL19, MIR134, MIR130B, EFL1, SERPINA3, TOMM40, HMOX2, HMGCS1, HMGCR, HMBS, MR1, HLA-F, HLF, HLA-DQA2, HLA-DPA1, HLA-DOA, HLA-DMA, NRG1, HDAC1, HTT, HARS1, HADHA, HMGCS2, SLC29A2, F9, HNRNPC, ICAM3, TNC, HTR6, HTC2, HSPG2, HSPB2, HSPB1, HSPA4, HSPA1B, AGFG1, HPCAL1, HP, HNRNPL, HNRNPK, HNRNPD, HABP2, H1-5, GZMH, GUCY1B1, FUT1, FPR1, FLT1, FOXC1, FKBP5, FKBP4, FHIT, FCGR2B, FCGR2A, FCGR1A, FCAR, FBP1, FAT1, ACSL3, FABP2, FUT8, ACKR1, XRCC6, GNB3, GSTP1, GSTM2, PDIA3, GRB2, GOT2, GOT1, GFRA1, GAP43, GFER, GFAP, GCKR, GCHFR, GBP1, GAS6, ID2, IFNA4, IFNGR1, LCK, SMAD4, SMAD2, SMAD1, MXD1, SH2D1A, LY75, LY9, LUM, LTF, LTBP2, CYP4F3, LPA, LMO1, LIF, LGALS4, SMAD6, MAFD2, MAGEA4, MIF, MSH3, ABCC1, MPG, MMP14, MAP3K11, MKI67, MFGE8, MATK, MET, MEFV, MDM4, MCM6, MCM3, MBP, LGALS3, STMN1, IGFALS, RPSA, ING2, IMPDH2, ILF2, TNFRSF9, IL16, IL15RA, IL11, IL9, IL6ST, IL6R, IL1R1, IGFBP7, IGFBP4, IGFBP3, IGFBP1, INPPL1, INSR, IRAK2, KIT, LAIR1, KRT14, KRT8, TNPO1, KPNA1, KLRC2, KIR2DS4, ITGAE, KIR2DS3, ITPR3, EIF6, ITGB1, ITGAM, ITGAL, FABP1, F2R, MYCN, CAPN5, SERPING1, TSPO, BTN1A1, BTF3P11, BST2, BRCA1, BMPR2, BMP6, BMP3, BMP2, BLVRA, CXCR5, OPN1SW, BCL9, BCL2L1, C3, VPS51, ERCC2, CA2, TNFRSF8, CD8B, CD8A, CD5, CD1D, CD1C, CCND2, CCNA2, CBLB, RUNX3, CAV1, CASP7, CAD, SLC25A20, DDR1, BCL2A1, B2M, AVP, ATP6V1G2, AKT2, AIF1, AHCY, AGL, AFM, ADH4, ADH1B, ADH1A, ADA, ACVRL1, ACTA1, ACP2, ACR, ACAT2, ACAT1, ALAS1, AKR1B1, AMPD1, ARF5, ALDH7A1, ATP4A, ATP12A, RERE, ATF4, STS, ARF1, ANGPT1, ABCC6, APOC4, APOC2, APEX1, APAF1, ANXA1, CD33, CD58, CD63, NCAN, DFFA, DHX9, DDX6, DAPK3, DAPK1, CD55, CYP27A1, CYP24A1, CYP17A1, CYP3A5, CYP2C18, CYP2A7, CYBA, CX3CR1, CTSS, NQO1, DIAPH2, DNASE1, EIF4E, STX2, EP300, ENG, ELF1, ELAVL1, ELANE, EFNA4, DPYD, EIF2D, EDNRB, EDNRA, E2F1, DUSP6, DUSP1, CTSB, VCAN, CDA, CSNK1G3, CCR1, CMD1B, CLU, CLCN5, CIRBP, CHIT1, CEL, CECR, CEBPA, CDKN3, CDKN2D, CDKN2C, CDK4, CDK11B, CDK1, CCR7, CNR2, COMT, CRY2, CSNK1G2, CSNK1D, CSNK1A1, CSK, CRYZ, CRYGD, CRY1, CPE, CREB1, CRABP2, CRABP1, CPT2, CPS1, CLDN4, MT2A, GADD45B, IFITM3, ARHGEF5, DDX39B, RAB7A, MAPKAPK3, IL1R2, DNALI1, ZNF185, ZAP70, YWHAZ, XRCC5, XRCC3, WRN, WNT5A, WNT1, WEE1, WAS, NELFE, USP11, STAU1, BAP1, ABCC3, PEA15, IRS2, NUMB, AOC3, TP63, PLA2G4C, MAPKAPK5, IFITM1, OGT, DHX16, DUSP11, CAVIN2, RECK, STX7, VRK1, VLDLR, VCP, UGT1A, TM7SF2, TIMP4, THOP1, THBS1, TGM2, TFR2, TFF3, TERF2, TBP, ADAM17, SYT1, SYK, SURF4, SULT2A1, STX4, TMSB4X, TNFAIP6, TOP1, TWIST1, SLC35A2, UCHL1, UBA7, UBC, TYK2, TXN, TULP1, TOP2A, TRPC5, HSP90B2P, TRAF2, TPR, TPO, TOP3A, TNFRSF25, RIOK3, TNFRSF10B, TOX, BCAP31, OPTN, LRPPRC, ENAM, IL18BP, HNRNPDL, NR1I3, MVP, USP15, MFN2, DDX46, FARP2, TRIM14, SPATA2, RAPGEF5, G3BP1, TNK2, DDX39A, AKR1A1, CPQ, NDC80, PIAS3, BTN3A3, TUBA1B, TLR6, CRISP3, KLRG1, LANCL1, RTN3, SIGMAR1, CDK2AP2, IGSF6, RABEPK, PCLAF, EDEM1, IL1RL2, SDC3, ARHGEF2, HGS, FCGR2C, PIAS2, CH25H, RAB29, TIMELESS, DDX18, FUBP1, IER3, PER3, PROM1, HDAC3, NRP2, CES2, AURKB, VAPB, IL32, GGPS1, SEC24C, PITPNM1, RBM39, CLOCK, GOSR1, TBPL1, GSTO1, AIMP1, NTN1, TGFBRAP1, ZFYVE9, PPIG, GPR55, PDLIM7, AURKA, STAT6, MYLK, PRH1, PREP, PPM1A, PPARD, POU5F1, POU2F1, PON1, POLRMT, PMS2, PML, PLXNB1, PLIN1, PLEK, PLA2G1B, PKM, PITX1, PRF1, PRH2, ST13, PRIM2, PSMD9, PSMD7, PSMD3, KLK10, RELN, MASP1, PRSS3, PRSS1, PROC, PRNP, PRL, DNAJC3, MAP2K7, MAP2K1, PRKAA1, PIK3C3, PIK3C2B, PHB, ABCB4, ODC1, OAS3, NRDC, NRAS, NPPB, NPM1, NOTCH4, NOTCH2, NOS3, NFKBIL1, NFKBIE, NFKBIB, NFKB2, NEK2, NAP1L1, OGG1, SIX6, P2RX4, ENPP1, PGGT1B, PF4, PER1, PECAM1, PDZK1, PDR, PCYT1A, P2RX7, PCNA, PCK2, PAX5, PRKN, PAK3, PAK2, PSMD10, PTH, PTPN2, CCL17, SLC10A1, SLC6A12, SLC6A4, SLC3A2, PMEL, SRSF5, SFRP2, SFRP1, SEL1L, SDHC, SDC4, SDC2, CX3CL1, CCL22, CCL21, SLC12A3, SLCO1A2, SLC22A1, SP1, SST, TRIM21, SRY, SRD5A2, SPRR2A, SPINK1, SOX2, SMARCA2, ABCA1, SNRPD1, SNCA, SIGLEC1, SMN2, SMN1, CCL20, CCL3L1, PTPN6, SERPINB4, RELA, REG1A, RBP4, RBL1, RASGRF2, RARA, RAD51, RAD23B, RAD21, RAB6A, RAB1A, PXN, PVT1, PTX3, PTPN7, REN, RENBP, RHEB, RPS4X, SAG, S100A1, RRAS, RPS27A, RPS6KA3, RPS6, RPL17, RNASE1, ROS1, RORC, RORA, ROBO1, RNASE4, RNASE3, SOD1
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Spastic Paraplegia 9a, Autosomal Dominant
Omim
A number sign (#) is used with this entry because of evidence that autosomal dominant spastic paraplegia-9A (SPG9A) is caused by heterozygous mutation in the ALDH18A1 gene (138250) on chromosome 10q24. ... Description Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. ... Molecular Genetics In affected members of 3 unrelated families with autosomal dominant spastic paraplegia-9A, Coutelier et al. (2015) identified heterozygous missense mutations in the ALDH18A1 gene (138250.0007-138250.0009). ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature (in some patients) HEAD & NECK Eyes - Cataracts (in some patients) - Nystagmus (in some patients) ABDOMEN Gastrointestinal - Gastroesophageal reflux (in some patients) - Vomiting (in some patients) - Hiatal hernia (in some patients) GENITOURINARY Bladder - Urinary urgency (in some patients) - Urinary incontinence (in some patients) SKELETAL - Delayed bone age (in some patients) Skull - Dysplastic skull base (in some patients) Pelvis - Dysplastic hips (in some patients) Hands - Small carpal bones (in some patients) Feet - Pes cavus (in some patients) MUSCLE, SOFT TISSUES - Generalized amyotrophy NEUROLOGIC Central Nervous System - Lower limb spasticity - Lower limb weakness - Gait abnormalities - Upper motor neuron signs - Hypertonia - Hyperreflexia - Extensor plantar responses - Dysarthria - Cerebellar signs (in some patients) - Learning difficulties (less common) - Dysfunction of lateral corticospinal tracts Peripheral Nervous System - Motor polyneuropathy (in some patients) - Decreased vibration sense (in some patients) LABORATORY ABNORMALITIES - Low plasma levels of citrulline, ornithine, proline, and arginine MISCELLANEOUS - Variable age of onset (first to third decades) - Weakness during pregnancy in some affected females has been reported - Slowly progressive MOLECULAR BASIS - Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0006 ) ▲ Close
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Chondroblastoma
Wikipedia
Specialty Oncology Chondroblastoma is a rare, benign , locally aggressive bone tumor that typically affects the epiphyses or apophyses of long bones . [1] [2] It is thought to arise from an outgrowth of immature cartilage cells ( chondroblasts ) from secondary ossification centers , originating from the epiphyseal plate or some remnant of it. [2] [3] Chondroblastoma is very uncommon, accounting for only 1-2% of all bone tumors . [1] [3] It affects mostly children and young adults with most patients being in the second decade of life, or less than 20 years of age. [1] [4] Chondroblastoma shows a predilection towards the male sex, with a ratio of male to female patients of 2:1. [1] [4] [5] The most commonly affected site is the femur , followed by the humerus and tibia . [1] [3] [4] [6] Less commonly affected sites include the talus and calcaneus of the foot and flat bones . [1] [6] Contents 1 Signs and Symptoms 2 Risk Factors 3 Pathogenesis 4 Diagnosis 4.1 Imaging Studies 4.2 Histological Findings 4.3 Differential Diagnosis 5 Treatment 6 Prognosis 7 History 8 References 9 External links Signs and Symptoms [ edit ] The most common symptom is mild to severe pain that is gradually progressive in the affected region and may be initially attributed to a minor injury or sports-related injury . [1] [3] [5] [6] Pain may be present for several weeks, months, or years. [1] [5] Other symptoms in order of most common to least commonly observed include swelling , a limp (when affected bone is in the lower extremity), joint stiffness , and a soft tissue mass. [1] [6] Physical findings include localized tenderness and a decreased range of motion in the involved bone and nearby joint , muscle atrophy , a palpable mass, soft tissue swelling, and joint effusion in the affected area. [1] [5] [6] Less commonly, pathological fractures can be found, especially in cases involving the foot. [1] In cases involving the temporal bone , tinnitus , dizziness , and hearing loss have been reported. [6] In a publication by Turcotte et al. it was found that the average duration of symptoms for patients with chondroblastoma was about 20 months, ranging from 5 weeks to 16 years. [5] [6] Risk Factors [ edit ] Currently, the genetic or environmental factors that predispose an individual for chondroblastoma are not well known or understood. [1] Chondroblastoma affects males more often than females at a ratio of 2:1 in most clinical reports. [1] [3] [4] [5] [6] Furthermore, it is most often observed in young patients that are skeletally immature, with most cases diagnosed in the second decade of life. [2] [5] Approximately 92% of patients presenting with chondroblastoma are younger than 30 years. [5] There is no indication of a racial predilection for chondroblastoma. [5] Pathogenesis [ edit ] The etiology of chondroblastoma is uncertain, as there is no specific characteristic abnormality or chromosomal breaking point observed, despite cytogenetic abnormalities being highly specific for some tumors. [1] [5] Romeo et al has noted that chondroblastoma arising in long bones mainly affects the epiphyses, while in other locations it is close to ossification centers . [2] Additionally, rare prevalence of chondroblastoma in intra-membranous ossification suggests a close relationship with growth plate cartilage. [2] In chondroblastoma, growth signaling molecules may be present due to the pre-pubertal signaling network as well as cartilage growth. [2] Sex hormones are thought to be linked to this process because of the spatial relationship of chondroblastoma with the growth plate and its typical occurrence before growth plate fusion. [2] Both Indian Hedgehog / Parathyroid Hormone-related Protein (IHh/PtHrP) and fibroblast growth factor (FGF) signaling pathways, important for development of the epiphyseal growth plate, are active in chondroblastoma leading to greater proliferation among the cells in the proliferating/pre-hypertrophic zone (cellular-rich area) versus the hypertrophic/calcifying zone (matrix-rich area). [1] [2] These findings suggest that chondroblastoma is derived from a mesenchymal cell undergoing chondrogenesis via active growth-plate signaling pathways (see Endochondral ossification ). [1] [2] The highly heterogeneous nature of the tumor makes classification particularly difficult especially considering the origins of chondroblastoma. [2] There are two opposing views on the nature of chondroblastoma, one favoring an osseous origin and the other favoring a cartilaginous origin. ... However they more commonly originate from the metaphysis, lack calcification and have a different histologic organization pattern. [5] Other differential diagnoses for chondroblastoma consist of giant cell tumors , bone cysts , eosinophilic granulomas , clear cell chondrosarcomas , and enchondromas (this list is not exhaustive). [1] [5] Treatment [ edit ] Chondroblastoma has not been known to spontaneously heal and the standard treatment is surgical curettage of the lesion with bone grafting . [1] To prevent recurrence or complications it is important to excise the entire tumor following strict oncologic criteria . [1] [5] However, in skeletally immature patients intraoperative fluoroscopy may be helpful to avoid destruction of the epiphyseal plate. [1] In patients who are near the end of skeletal growth, complete curettage of the growth plate is an option. [1] In addition to curettage, electric or chemical cauterization (via phenol ) can be used as well as cryotherapy and wide or marginal resection . [1] [5] Depending on the size of the subsequent defect, autograft or allograft bone grafts are the preferred filling materials. [1] [5] Other options include substituting polymethylmethacrylate (PMMA) or fat implantation in place of the bone graft. [1] [3] [5] The work of Ramappa et al suggests that packing with PMMA may be a more optimal choice because the heat of polymerization of the cement is thought to kill any remaining lesion. [1] [3] Both radiotherapy and chemotherapy are not commonly used. [1] [5] Radiotherapy has been implemented in chondroblastoma cases that are at increased risk of being more aggressive and are suspected of malignant transformation . [1] [5] Furthermore, radiofrequency ablation has been used, but is typically most successful for small chondroblastoma lesions (approximately 1.5 cm). [1] Treatment with radiofrequency ablation is highly dependent on size and location due to the increased risk of larger, weight-bearing lesions being at an increased risk for articular collapse and recurrence. [1] [5] Overall, the success and method of treatment is highly dependent upon the location and size of the chondroblastoma. [1] [4] [5] Prognosis [ edit ] Although not specific to one mode of management, lesion size, patient sex, or follow-up, the recurrence rate for chondroblastoma is relatively high, and has been shown in select studies to be dependent upon the anatomical location, method of treatment, and biological aggressiveness of the initial lesion. [1] [3] [5] The rate of recurrence is highly variable, ranging between 5% and 40%, as study results are generally inconclusive. [1] However, local recurrence for long bone lesions is around 10%, with chondroblastoma in flat bones having higher recurrence and more complications. [1] [5] Recurrences are more common in cases involving an open epiphyseal plate where they can be attributed to inadequate curettage to avoid damage. [1] [5] Lesions of the proximal femur are particularly problematic because of difficulties accessing the femoral head for complete excision . [1] Chondroblastoma may recur in the soft tissue surrounding the initial lesion, especially in the case of incomplete curettage. [1] Recurrences have been shown to occur between 5 months and 7 years after initial treatment and are generally treated with repeat curettage and excision of affected soft-tissue. [1] [5] No histological differences have been seen between recurrent and non-recurrent chondroblastomas. [1] [4] [6] Rarely, more aggressive chondroblastomas can metastasize . [1] The most common location for metastases is the lung , with some cases also involving secondary bone sites, soft tissue, skin, or the liver . [1] [5] The prevalence of metastatic chondroblastoma, however, is quite low and is believed to be less than 1%. [1] There is no relationship established between metastasis and previous surgery, non-surgical treatment, anatomical location, or patient age. [1] Survival of patients with metastatic lesions is better when the metastases are surgically resectable, as chemotherapy has been shown to have little to no benefit. [1] Prognosis is bleak for patients with malignant chondroblastomas that are resistant to surgery, radiation, and chemotherapy. [5] However, patients with resectable metastases have survived for several years following diagnosis. [1] While recurrence is the most common complication of chondroblastoma other issues include post-surgery infection , degenerative joint disease , pathological fractures, failure of bone grafts, pre-mature epiphyseal closure , functional impairment, and malignant transformation. [1] [5] Complications are less common in patients presenting with chondroblastoma in accessible areas. [1] Overall, patients with more classical chondroblastoma (appearing in long bones, typical presentation) have better prognoses than patients with atypical chondroblastoma (flat bones, skull, etc.). [1] [3] [4] [5] [6] History [ edit ] Chondroblastoma was first described in 1927 as a cartilage-containing giant cell tumor by Kolodny but later characterized by Codman in 1931. [1] [4] Codman believed chondroblastoma to be an "epiphyseal chondromatous giant cell tumor" in the proximal humerus . [1] [3] This view was changed later by a comprehensive review completed by Jaffe and Lichtenstein in 1942 of similar tumors in other locations than the proximal humerus. [1] [4] They re-defined the tumor as a benign chondroblastoma of the bone that is separate from giant cell tumors. [1] [5] However, chondroblastoma of the proximal humerus is still sometimes referred to as Codman’s Tumor. [1] [3] [4] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq De Mattos, Camilia B. ... Web. 5 Dec. 2015. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah Damron, Timothy A.
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Anthrax
Wikipedia
Anthrax toxin is a mixture of three protein components: protective antigen (PA), edema factor (EF), and lethal factor (LF). [33] PA plus LF produces lethal toxin, and PA plus EF produces edema toxin. ... Carcasses may be burned, [86] though often 3 days are needed to burn a large carcass and this is not feasible in areas with little wood. ... For example, in 1942, British bioweapons trials severely contaminated Gruinard Island in Scotland with anthrax spores of the Vollum-14578 strain , making it a no-go area until it was decontaminated in 1990. [89] [90] The Gruinard trials involved testing the effectiveness of a submunition of an "N-bomb" – a biological weapon containing dried anthrax spores. ... Jeanne Guillemin reported in 1999 that a combined Russian and United States team investigated the accident in 1992. [94] [95] [96] Nearly all of the night-shift workers of a ceramics plant directly across the street from the biological facility (compound 19) became infected, and most died. ... For the attacks of 2001, CFR was only 45%, while before this time CFRs for IA were >85% (Page 37) ^ "Gastrointestinal Anthrax" .ANTXR2, ANTXR1, BRAF, MAP2K1, NLRP1, VWF, ITIH4, CAP1, ADAMTS13, IMMT, KIF1C, SORBS1, ACTB, HACD1, CNTNAP1, PPIP5K2, VEGFA, TLR4, YWHAZ, BRD4, UBR2, SET, PADI4, ZDHHC5, FBXO8, GAL, PGPEP1, NLRC4, NOD2, FBRS, ARAP3, PAGR1, PLB1, SREBF2, SELP, SELPLG, LCN2, BAK1, BMP1, CALR, CASP1, COL11A2, CTAA1, EPHB2, ERBB2, NR5A1, GAST, GALNS, IL1B, STT3A, LGALS1, PARP1, LNPEP, LRP6, LRP5, NR4A2, PAEP, PRDX1, SERPINB6, PLA2G1B, PLG, PRCP, MAPK1, MAP2K3, ROS1, HNP1