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Squamous-Cell Carcinoma Of The Lung
Wikipedia
A squamous-cell carcinoma is often preceded for years by squamous-cell metaplasia or dysplasia in the respiratory epithelium of the bronchi, which later transforms to carcinoma in situ . [ citation needed ] Large scale studies such as The Cancer Genome Atlas (TCGA) have systematically characterized recurrent somatic alterations likely driving lung squamous-cell carcinoma initiation and development. [3] [4] Gene mutations and copy number alterations [ edit ] Squamous-cell lung carcinoma is one of the tumor types with the highest number of mutations since smoking, the main driver of the disease, is a strong mutagenic factor. [5] Inactivating mutations in lung SCC affect many tumor suppressor genes such as TP53 (mutated in 81% of cases), MLL2 (20%), CDKN2A (15%), KEAP1 (12%) and PTEN (8%). ... Epidemiology [ edit ] Lung squamous-cell carcinoma is the second most common histologic type of lung cancer after adenocarcinoma, reaching 22.6% of all lung cancer cases as of 2012. [11] The relative incidence of the former has been steadily decreasing in favor of the latter due to the decreasing smoking rates in the last few years. [9] As much as 91% of lung SCC has been found to be attributable to cigarette smoking. ... Retrieved 2019-02-28 . ^ a b Kenfield SA, Wei EK, Stampfer MJ, Rosner BA, Colditz GA (June 2008). "Comparison of aspects of smoking among the four histological types of lung cancer" . ... "Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines" . Cell Systems . 6 (3): 271–281.e7. doi : 10.1016/j.cels.2018.03.002 . ... PMC 4862209 . PMID 25979930 . ^ a b Derman BA, Mileham KF, Bonomi PD, Batus M, Fidler MJ (October 2015).FGFR2, EGFR, DDR2, KRAS, EPHA2, FGFR1, IGF1R, TTN, PLK1, NOTCH1, FYN, PRKDC, DDR1, MAST4, EPHA3, MYLK4, EPHA5, ANKK1, WNK3, ACVR1C, GUCY2F, DCLK3, MAP3K15, AURKC, BMP2K, TRIM24, MYO18B, ERBB4, MAP2K4, MAP4K3, CSF1R, ATR, TP53, CDKN2A, PIK3CA, BRAF, FGFR3, NFE2L2, STK11, FBXW7, HLA-A, CHRNA3, CLPTM1L, HRAS, PTEN, EP300, HLA-DQA1, CYP2A6, HNF1B, DCLK1, KRT8, BRCA2, H2AC6, TNXB, HLA-B, DCUN1D4, PDS5B, THRB, ATXN2, TRIM26, DBH, HLA-DMB, GBAP1, FRY, RALY, ESM1, SH2B3, MORF4L1, HCP5, SOX2, ZSCAN12, SCGN, BTN3A3, ZNF623, GSTM1, PKD2L1, MED12, HLA-DQA2, NEB, LCORL, MORN5, GPX6, LINC-PINT, CENPP, PC, B2M, NF1, FAM155A, PPP6C, ALK, CDKN2B-AS1, ZSCAN16-AS1, MTX1, EGFR-AS1, MUC22, PTCSC2, TSBP1-AS1, CYP1A1, NEK10, BTBD9, VARS2, BABAM1, CD274, ZNRD1, RAD51B, LRRC8D, CARMIL1, CREBBP, PTPN11, REXO4, NPAS3, TUBA1C, WNK1, ZNF322, CHRNB4, USHBP1, PGBD1, KCNH1, APOM, PIK3CB, PIK3CD, PIK3CG, H3P10, TP63, NME1, GPC3, PTHLH, MIR205, MET, CEACAM5, VEGFA, RARB, GATA6, CCND1, MKS1, MAP2K7, MAPK3, BDNF, CDK4, SFTA1P, DSG3, MIR93, MYC, AKT1, CTNNB1, TYMS, RAD52, ME1, TOP2A, TGFBR2, ELAVL2, PDPN, OGG1, SOX2-OT, MALAT1, MIR145, MIR150, ZEB1, PDCD1, MIR21, MBD2, NAPSA, PARP1, PROM1, SUMO1P3, MIR375, MIR590, CXCR4, MPO, MMP9, MLH1, CCNB2, CKAP4, FGF19, RET, TPX2, TRIM58, DGCR5, HPGDS, SGSM3, RPE65, ROS1, RFC4, SLC2A2, UVRAG, SKP2, XAF1, PTPN13, ACKR3, PTK2, SST, DMRT3, PSG2, STAT3, PDCD1LG2, PRKCI, TIMP1, BMP4, CLDN3, COL11A2, ERBB2, CYP1A2, CYP2E1, FHIT, STMN1, IL6, FGFR4, LGALS8, CAV1, LOXL2, CDH1, EIF4G1, GABPA, BCL2, GSTP1, IFNG, DUSP6, CEACAM3, CEACAM7, MCL1, MDM2, SMAD4, AGER, CTLA4, GLI1, BIRC6, SOX17, AICDA, MYDGF, METTL3, COL17A1, SPC25, RAD18, SYT13, CLDN7, CCAR2, METTL14, COX8A, KIF15, MRTFA, CNOT6, NSD1, MEOX1, ZMAT3, DENND2D, ZNF503, CDKN1B, MAP1LC3A, HOPX, CHRNA4, FSD1L, DOCK8, MAP1LC3B, CHRNA7, CHUK, TBL1XR1, P2RY12, AP2M1, IRX1, FSD1, MAPKAP1, FTO, BRD9, CLU, CCR4, MRPL41, IL25, FRTS1, CRK, CPOX, LMO3, IL17C, LHX6, FBXO5, DAXX, PRPF31, POLDIP2, RNF19A, AKR1C2, NOCT, CIZ1, SNHG1, CORO1C, MMD, NCS1, SIRT1, COBL, GRAMD4, GADD45A, PEG10, DIO3, DMRT1, MMRN1, DNAH5, TUSC2, WIF1, IL17B, GPR78, RBMS3, CSNK2A1, BRK1, CACNA2D3, CHFR, HHAT, ATG4D, MAPK14, CSF1, BRF2, CSF2, CSF3, ALKBH5, EGLN1, TMEM97, CYTL1, SOX18, GPR87, IL17D, BCL11A, ANAPC11, GOLM1, GMNN, CSNK2A2, CTSB, EML4, RIOX2, IL17F, CDKN1A, MNX1-AS1, MIR193B, MIR452, MIR448, AQP5, ARG2, MIR372, MIR342, MIR324, MIR135B, MAP1LC3C, C5orf17, PRR26, MIR9-3, BCHE, MIR31, MIR29B2, MIR29B1, MIR29A, MIR28, MIR224, MIR223, MIR206, BMI1, MIR203A, MIR20A, MIR486-1, IGF2BP2-AS1, MIR195, LINC00273, SEC62-AS1, LINC01419, ADRA1A, ADRA2B, LINC01206, MIR5682, COMMD3-BMI1, LINC00968, AGTR1, PCAT6, MIR1911, ALB, GATA6-AS1, VPS9D1-AS1, MIR944, MIR541, ALDH1A1, MIR671, ANG, LINC00460, MIR662, ANGPT1, MIR588, MIR579, NME1-NME2, MIR198, MIR192, TRIM15, CD14, STXBP4, FAM83B, ADGRF4, CD44, FBXO45, PLPP4, FEZF1-AS1, APCDD1L-DT, IL23R, FAM163A, HJV, PIWIL4, LINC00261, ADHFE1, CD109, CDK2, PODN, LRRK2, CDK7, AZIN2, PRDM5, MUC16, MTDH, IL33, ERVH48-1, MS4A3, CCNE1, MIR185, TBX5-AS1, MIR183, MIR182, MIR15A, FOXL2, MIR144, MIR141, MIR140, MIR125A, MIRLET7I, BRS3, USP17L7, SERPING1, CCL4L1, KMT5A, CA9, CASP3, CASR, CBR1, GADL1, CELIAC2, STPG4, CXCL17, HCCAT5, SBF2-AS1, CCK, FSTL1, AHSA1, DSC3, S100A10, RRM2, RPS14, FOXA2, HNRNPU, RGS3, HOXA10, HSPB1, HTC2, IRF8, MOK, IFIT2, PVT1, PTPRA, IGF2R, TWF1, PTK7, IHH, PTGS2, IL10, IL17A, MASP1, IDO1, MAPK8, IRF1, MAPK1, S100A6, HLA-C, DUSP1, SERPINB3, GSTM2, STAT1, SSTR4, SRPK2, SRPK1, SQLE, SPARC, SOX4, GZMB, HLTF, HBE1, SLC2A1, HIC1, SIM1, SIAH2, SHH, SFTPB, TRA2B, SRSF2, SRSF1, HK2, SELENOP, SELP, CCL4, CCL2, IRF4, ITGB4, KIF5B, PPBP, NME2, NGFR, NFYC, NFKBIA, NFIX, LRP6, LRP5, EPCAM, NCAM1, MYO10, MYH10, MYCN, SMAD3, MYBPH, MUC4, MUC1, ND5, MSR1, MSH2, MMP14, MCM2, MMP7, MCM5, MIF, MIA2, LIPA, LGALS1, CLDN11, SERPINA1, POU4F2, POU3F2, KIT, PLG, PLAU, PKP1, PIK3R2, KRT19, KRT81, LCK, SERPINB5, ABCB1, OVOL1, PDGFRB, LCN2, PCNA, LDHA, PAX7, PARN, PAK1, SERPINE1, PAEP, PEBP1, P2RY1, AURKA, GSPT1, GSK3B, BECN1, CCL4L2, TP53I3, BAG4, EIF2AK3, GRAP2, COX5A, PLAA, KL, SOCS6, PIWIL1, ERCC1, LPAR2, ESRRA, CLDN1, CLDN12, PRC1, ETV4, H3C7, EZH2, SQSTM1, F2R, INPP4B, FAP, TNFRSF10B, DLK1, EPHX1, KMT2B, KEAP1, HCG9, E2F1, CHL1, CXCR6, ECT2, SPAG5, EDNRA, TACC3, YAP1, PIAS3, DLC1, EEF2, GPHN, EPHB3, WASF2, PDIA6, EIF4E, ARL4C, ARPC5, BCL2L11, HDAC5, ENO1, EPAS1, GAB2, ZEB2, TNFSF10, FGF1, MAP3K7, GAS7, FUS, FUT1, TTF1, NR2C2, TPD52, TOP3A, GATA3, GATA4, TNNI3, TNF, CLDN5, TK1, TIAL1, TIA1, GPR42, THOP1, THBS2, GPX2, TGFBI, TGFB1, TFF3, TFAM, TERC, GRN, GRM8, SUMO1, SCGB1A1, USP4, FGF9, FGF3, HYAL3, H3C2, H3C10, H3C12, H3C8, H3C11, H3C6, H3C3, H3C4, H3C1, FXR1, FOXO3, KMT2D, AIMP2, USP7, YWHAZ, XRCC3, XRCC1, XPC, WNT5A, VIM, FOXM1, VDAC3, ABL2
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Ciliopathy
Wikipedia
"Mechanisms of Nephronophthisis and Related Ciliopathies" . Nephron Exp. Nephrol . 118 (1): e9–e14. doi : 10.1159/000320888 . PMC 2992643 . ... PMID 16722803 . ^ Tan K, Liu P, Pang L, Yang W, Hou F (2018) A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report. Medicine (Baltimore) 97(50) ^ a b c d e f Ross, Allison; PL Beales; J Hill (2008). ... PMID 18528360 . ^ 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 Baker, Kate; Beales, Philip L. (2009).WDR19, OFD1, KIF7, CEP290, TMEM67, RPGRIP1L, BBS2, DYNC2H1, MKS1, AHI1, MKKS, ARL13B, CPLANE1, IQCB1, NEK1, NEK8, CC2D2A, RPGR, SDCCAG8, TTC21B, ZNF423, NPHP1, NPHP3, WDR35, CEP164, PKHD1, RPGRIP1, LCA5, IFT80, XPNPEP3, TULP1, EVC2, BBS5, GLIS2, CRB1, UMOD, TMEM231, TMEM216, CCDC28B, BBS9, TCTN2, INVS, B9D1, TRIM32, FAM92A, TMEM237, USH2A, BBS1, NPHP4, BBS4, GUCY2D, GDF1, PCARE, TOPORS, USH1C, NR1H4, CCDC40, DNAAF2, LRAT, B9D2, FOXH1, DNAH11, ADGRV1, ARL6, IMPDH1, CDH23, BBS10, EVC, CCDC39, WDPCP, DNAAF3, CRELD1, CFTR, CRX, NKX2-5, TMEM138, RD3, PCDH15, DNAH5, TCTN1, WHRN, ATXN10, AIPL1, DNAH8, ZIC3, RDH12, VHL, BBS12, SCNN1A, CLRN1, SPATA7, MYO7A, CEP41, IFT43, PKD2, SCNN1G, LRRC56, TTC8, DNAAF1, USH1G, NODAL, ACVR2B, SCNN1B, RPE65, LEFTY2, BBS7, KCNJ13, HYLS1, TSC2, TSC1, SCLT1, WDR11, NEK4, IFT140, INPP5E, KIAA0586, CEP120, IFT122, IFT52, ALMS1, MAK, TMEM107, IFT172, PRKD1, DCDC2, FGFR1OP, CEP104, STK11, WDR60, TCTN3, C2CD3, CILK1, POC1B, IFT27, TGFB1, RHO, ARMC9, CFAP410, CRB2, FOXJ1, CENPF, MGS, USP35, ARL13A, NPHP3-ACAD11, TTC26, MCIDAS, MICAL3, DNAAF4, PIFO, FOPNL, NEK9, IFT20, UCN2, CEP19, TAPT1, USP38, CPLANE2, TBC1D32, FAM161A, TEKT1, SLC41A1, BICC1, CSPP1, TXNDC15, FAM149B1, ACTB, NINL, ADAMTS9, PPT1, MCM2, RAB8A, NME3, NOTCH2, ORC1, PAFAH1B1, PAM, PCM1, PCNT, PCP4, PDE6D, PIK3CA, PIK3CB, PIK3CD, PIK3CG, KPNA3, KIF11, JBS, CTNNB1, AGXT, ATD, ATR, CCND1, BUB1B, CETN2, DAP, IGF1, E2F4, FGF8, FGFR3, GAS8, GLI1, GLI2, PKD1, RAF1, CEP72, RFX1, WDR5, ACVR1, RCOR1, ARL2BP, POC1A, CHTOP, TRAF3IP1, SGSM3, IFT81, PIK3R4, HSPB11, SUFU, RAB23, IFT57, CEP55, B4GAT1, B3GNT2, KIF14, IFT88, RFX3, RNASE3, CCL2, HNF1A, TNF, EZR, TRRAP, CEP350, IKBKG, CDK10, TNFSF14, UNC119, USP8, KIAA0753, LCA10
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Hellp Syndrome
Wikipedia
Obstet Gynecol . 103 (5 Pt 1): 981–91. doi : 10.1097/01.AOG.0000126245.35811.2a . ... PMID 14988839 . ^ Rinehart BK, Terrone DA, Magann EF, Martin RW, May WL, Martin JN Jr (March 1996). ... Br J Obstet Gynaecol . 104 (8): 877–91. doi : 10.1111/j.1471-0528.1997.tb14346.x . ... Advances in Clinical Chemistry. 53 : 85–104. doi : 10.1016/B978-0-12-385855-9.00004-7 . ... PMID 7661469 . ^ Martin JN Jr, Rinehart BK, May WL, Magann EF, Terrone DA, Blake PG (June 1999).CD46, CFH, CFI, HELLPAR, FASLG, FAS, PGF, F5, LEP, HADHA, F2, TNF, HPGDS, LGALS13, FLT1, VEGFA, MTHFR, MAPK14, TLR4, AIMP2, TLR2, MAPK3, TPBG, VEGFC, TGFB3, VWF, MAPK1, ABCG2, TFPI2, IL18R1, GRAP2, EBI3, AHSA1, ADAMTS13, SIRT4, RNF19A, POLDIP2, SLC17A5, ERVW-1, MBL3P, AHSP, NOD2, POTEF, SERPINE2, ACTB, SERPINE1, PAH, APC, CFB, CA9, CD40LG, CD59, CDKN1C, COX8A, CP, CRK, ENG, EPHX1, GAPDH, GNB3, GPT, NR3C1, GSTM1, GSTT1, HSPA4, HSPG2, IFNG, IL1B, IL1RN, CXCL8, IL10, LEPR, LNPEP, ADM, NOS3, PAEP, MBL2
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Watershed Stroke
Wikipedia
The dual contribution of hemodynamic impairment and microembolism would result in different treatment for patients with these specific infarcts. [22] Basilar artery (BA) stenting [ edit ] While intracranial artery stenting is used for same side stroke prevention, basilar artery stenting may help to improve parallel, accessory blood flow. ... The Lancet . 353 (9168): 1935. doi : 10.1016/S0140-6736(99)00966-6 . PMID 10371574 . ^ a b Martini, F, Nath, J, Bartholomew, E 2012. ... The Lancet . 337 (8756): 1521–6. doi : 10.1016/0140-6736(91)93206-O . PMID 1675378 . Later publications distinguish between "syndrome" and "infarct", based on evidence from imaging. ... Neurosurgery . 65 (5): 860–5, discussion 865. doi : 10.1227/01.NEU.0000358953.19069.E5 . PMID 19834397 . ^ Winter, Jackie; Hunter, S.; Sim, J.; Crome, P. (2011). ... Acta Neurobiologiae Experimentalis . 71 (1): 74–85. PMID 21499328 . ^ Aquilani, R.; Sessarego, P.; Iadarola, P.; Barbieri, A.; Boschi, F. (2011).
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Hypobetalipoproteinemia, Familial, 2
Omim
In the third kindred, the proband presented at 85 years of age with an acute respiratory tract infection, at which time she was found to have marked hypolipidemia. She died suddenly at 91 years of age. Martin-Campos et al. (2012) studied 2 unrelated Spanish families with hypobetalipoproteinemia, including a brother and sister from the first family and a male patient from the second, who showed the typical lipid profile of FHBL, with total, HDL, and LDL cholesterol and triglyceride levels below the 5th percentile of the age- and sex-matched Spanish population. ... All family members studied were carriers of the common E3/E3 APOE genotype (107741.0015) except for 1 individual who was E2/E2 (107741.0001). ... Subsequently, 44 human participants, with triglyceride levels of either 90 to 150 mg per deciliter or greater than 150 mg per deciliter, depending on the dose group, were randomly assigned to receive subcutaneous injections of placebo or an antisense oligonucleotide targeting ANGPTL3 mRNA in a single dose (20, 40, or 80 mg) or multiple doses (10, 20, 40, or 60 mg per week for 6 weeks).
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Helminthic Therapy
Wikipedia
Clinical Neurology and Neurosurgery . 104 (3): 182–91. doi : 10.1016/S0303-8467(02)00036-7 . ... Evolution, Medicine, and Public Health . 2013 (1): 89–103. doi : 10.1093/emph/eot008 . PMC 3868394 . ... Journal of Allergy and Clinical Immunology . 135 (2): 508–516.e5. doi : 10.1016/j.jaci.2014.07.022 . ... "Trichuris suis therapy in Crohn's disease" . Gut . 54 (1): 87–90. doi : 10.1136/gut.2004.041749 . PMC 1774382 . ... "Worm therapy: For or against?". Journal of Helminthology . 85 (3): 225–227. doi : 10.1017/S0022149X11000204 .
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L1 Syndrome
Wikipedia
American Journal of Medical Genetics . 92 (1): 40–6. doi : 10.1002/(SICI)1096-8628(20000501)92:1<40::AID-AJMG7>3.0.CO;2-R . ... Lancet . 387 (10020): 788–99. doi : 10.1016/S0140-6736(15)60694-8 . ... Emergency Neuro-ophthalmology : Rapid Case Demonstration . Springer Singapore. pp. 85–89. doi : 10.1007/978-981-10-7668-8_15 . ... The Journal of Hand Surgery . 43 (8): 774.e1–774.e5. doi : 10.1016/j.jhsa.2018.01.015 . ... American Journal of Human Genetics . 86 (5): 749–64. doi : 10.1016/j.ajhg.2010.04.006 .
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Lipoyltransferase 1 Deficiency
Omim
Overall PDHC activity was decreased compared to controls, but partial reactions catalyzed by the E1 (PDHA1, 300502 and PDHB, 179060) and E3 (DLD; 238331) subunits were normal; E2 (DLAT; 608770) activity was not measured, but sequence analysis of DLAT was normal. ... Immunoblot analysis of patient fibroblasts showed absence of the LIPT1 protein and absence of the expected lipoylated E2 proteins of KGDH, PDHC, and BCKDH. ... Immunostaining analysis of patient cells showed decreased levels of lipoylated E2-PDH and E2-KGDH. There was normal lipoylation of the H protein (GCSH; 238330) of the glycine cleavage system (GCS) and normal activity of the GCS, suggesting that the LIPT1 mutations caused a defect of lipoic acid transfer to particular proteins rather than a general impairment of lipoic acid biosynthesis.
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Oncogenic Osteomalacia
Wikipedia
Head and Neck Pathology . 10 (3): 279–85. doi : 10.1007/s12105-015-0678-1 . ... "Tumor induced osteomalacia: A forgotten paraneoplastic syndrome?". Oral Oncol . 48 (2): e9–10. doi : 10.1016/j.oraloncology.2011.09.011 . ... PMID 11344269 . ^ Berndt, T; Craig, TA; Bowe, AE; Vassiliadis, J; Reczek, D; Finnegan, R; Jan De Beur, SM; Schiavi, SC; Kumar, R (Sep 2003). "Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent" . J Clin Invest . 112 (5): 785–94. doi : 10.1172/JCI18563 . PMC 182208 . ... Head and Neck Pathology . 10 (3): 279–85. doi : 10.1007/s12105-015-0678-1 .
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Ejaculatory Duct Obstruction
Wikipedia
In contrast, if both vasa deferentia are obstructed (which may be the result of intended sterilization ), a semen analysis will also reveal aspermia / azoospermia , but an almost normal volume of the semen , since the efflux of the seminal vesicles is not hindered. This is because approx. 80% of the volume of the semen is the gel-like fluid originating from the seminal vesicles whereas the fraction from the testicles / epididymis , which contains the spermatozoa accounts for only 5–10% of the volume of the semen . ... "Ejaculatory-duct calculus causing secondary obstruction and infertility". Fertility and Sterility . 88 (3): 706.e9–706.e11. doi : 10.1016/j.fertnstert.2006.11.189 .
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Asymptomatic Inflammatory Prostatitis
Wikipedia
"Asymptomatic inflammation and/or infection in benign prostatic hyperplasia". BJU International . 84 (9): 976–81. doi : 10.1046/j.1464-410x.1999.00352.x . ... Urol . 174 (6): 2319–22. doi : 10.1097/01.ju.0000182152.28519.e7 . PMID 16280832 . ^ Weidner W, Krause W, Ludwig M (1999).
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Food Allergy
Wikipedia
Food allergy affects as many as 5% of infants less than three years of age [72] and 3% to 4% of adults. [73] [80] The prevalence of food allergies is rising. [70] [81] [82] Food allergies cause roughly 30,000 emergency room visits and 150 deaths per year. [83] Society and culture [ edit ] Whether rates of food allergy are increasing or not, food allergy awareness has definitely increased, with impacts on the quality of life for children, their parents and their caregivers. [84] [85] [86] [87] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 causes people to be reminded of allergy problems every time they handle a food package, and restaurants have added allergen warnings to menus. ... Despite all these precautions, people with serious allergies are aware that accidental exposure can easily occur at other peoples' houses, at school or in restaurants. [89] Food fear has a significant impact on quality of life. [86] [87] For children with allergies, their quality of life is also affected by actions of their peers. ... Food allergens prioritized in labeling laws by country Food US Canada UK Australia EU peanuts Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] tree nuts Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] milk Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] eggs Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] fish Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] shellfish Crustaceans only [92] Crustaceans and molluscs [93] Crustaceans and molluscs [94] Yes [95] Crustaceans and molluscs [96] soy Yes [92] Yes [93] Yes [94] Yes [95] Yes [96] wheat Yes [92] Includes triticale [93] Included under gluten [94] Yes [95] Included under gluten [96] sesame seeds Voluntary [97] Yes [93] Yes [94] Yes [95] Yes [96] mustard No Yes [93] Yes [94] No Yes [96] sulphites (not a true allergy ) No Yes [93] Yes [94] No Yes, >10 mg/kg [96] gluten (not a true allergy) No Yes [93] Yes [94] No Yes [96] celery No No Yes [94] No Yes [96] lupin No No Yes [94] Yes [95] Yes [96] There are no labeling laws mandating declaration of the presence of trace amounts in the final product as a consequence of cross-contamination, except in Brazil. [12] [98] [99] [100] [101] [102] [10] [11] Ingredients intentionally added [ edit ] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 (FALCPA) requires companies to disclose on the label whether a packaged food product contains any of these eight major food allergens, added intentionally: cow's milk, peanuts, eggs, shellfish, fish, tree nuts, soy and wheat. [98] The eight-ingredient is list originated in 1999 from the World Health Organisation Codex Alimentarius Commission. [10] To meet FALCPA labeling requirements, if an ingredient is derived from one of the required-label allergens, then it must either have its "food sourced name" in parentheses, for example "Casein (milk)," or as an alternative, there must be a statement separate but adjacent to the ingredients list: "Contains milk" (and any other of the allergens with mandatory labeling). [98] [100] The European Union requires listing for those eight major allergens plus molluscs, celery, mustard, lupin, sesame and sulfites. [99] In 2018, the US FDA issued a request for information for the consideration of labeling for sesame to help protect people who have sesame allergies. [103] A decision was reached in November 2020 that food manufacturers voluntarily declare that when powdered sesame seeds are used as a previously unspecified spice or flavor, the label be changed to “spice (sesame)” or “flavor (sesame).” [97] FALCPA applies to packaged foods regulated by the FDA, which does not include poultry, most meats, certain egg products, and most alcoholic beverages. [11] However, some meat, poultry, and egg processed products may contain allergenic ingredients. ... Gastroenterology . 148 (6): 1120–1131.e4. doi : 10.1053/j.gastro.2015.02.006 . ... J Investig Allergol Clin Immunol . 15 (2): 86–90. PMID 16047707 . ^ Sicherer 2006 , p. 189 ^ Turnbull JL, Adams HN, Gorard DA (2015).
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Channelopathy
Wikipedia
. ^ Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MC, Mancini GM, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK (September 2018). "V1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development" . Neuron . 99 (5): 905–913.e7. doi : 10.1016/j.neuron.2018.07.052 . ... The Channelopathy Foundation - Foundation for Ion Channel diseases Cystic Fibrosis Foundation Rare Diseases Clinical Research Network v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channelsSCN4A, SCN5A, KCNQ1, CACNA1A, SCN9A, TRPV4, SCN1A, RYR2, KCNK3, AQP4, GCK, TYRP1, STIM1, TBPL1, IDS, ABCC9, KCNJ6, GLUD1, KCNJ10, KCNE2, HADH, KCNA5, ABCC8, KCNJ18, TRPM4, CLIC2, CLCN1, CFTR, SHANK3, NALCN, PKP2, KCNH2, SPG7, SLC16A1, SLC2A1, SCN10A, FST, MHS3, KCNE3, MALAT1, HCN1, UNC80, ASB10, HVCN1, UNC79, LGALS14, ANO1, CNGB3, SEC61A1, MCTS1, MCAT, PANX1, SCN11A, AKAP9, SCN3A, ANK2, SCD, CLCA1, GJB1, CBLIF, EGR1, CNGA3, CMA1, CLCN5, CLCN2, CAV1, ATXN1, CACNA2D1, CACNA1S, CACNA1F, CACNA1D, CACNA1C, ATP1A3, ATP1A2, HSD17B10, UBE2K, HLA-DRB5, HSPB2, PMM2, PDC, P2RX7, ATP6, MECP2, KCNMA1, KCNK2, KCNJ11, KCNJ5, KCNJ3, KCNJ2, KCNE1, KCNA4, KCNA2, INSR, TRPM1
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Y Chromosome Infertility
Gene_reviews
Genomic Testing Used in Y Chromosome Infertility View in own window Method Genetic Mechanism Detected 1 Total Proportion of Y Chromosome Infertility Detected by Method AZF region deletion 2 Unbalanced Y-chromosome rearrangement USP9Y pathogenic variant Targeted deletion/duplication analysis 3 X X 4 >90% CMA 5 X >90% 6 Karyotype X Rare USP9Y sequence analysis 7 X 1 reported 8 1. ... AZF regions include interstitial AZFa deletion (HERV15yq1-HERV15yq2); interstitial AZFc deletion (b2/b4); interstitial AZFb & AZFb+c deletions (P5/proxP1, P5/distP1, P4/distP1); and terminal AZF deletion (often representing a pseudodicentric Y chromosome w/duplication & deletion). 3. ... Most males with AZFa or AZFb/c deletions have a very poor prognosis for finding any sperm with testicular sperm extraction (TESE). Males with AZFc deletions (b2/b4 or gr/gr) have an extremely favorable prognosis (87%) for finding sperm sufficient for successful intracytoplasmic sperm injection (ICSI). ... Interstitial or terminal deletions that include AZFc only are mediated by recombination between the b2/b4 palindromic repeats and result in a variable infertility phenotype, ranging from azoospermia and SCO syndrome to severe or mild oligozoospermia [Oates et al 2002, Silber 2011]. ... Two partial deletions of AZFc, called b1/b3, b2/b3, are considered benign copy number variants (polymorphisms) [Repping et al 2003, Fernandes et al 2004, Machev et al 2004, Ferlin et al 2007].
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Danubian Endemic Familial Nephropathy
Omim
In 74 adult patients with NE, Mustonen et al. (1996) found that patients with the most severe course of the disease had a very high frequency of HLA-B8 (142830), C4A*Q0 (120810), and DRB1*0301 (142857) alleles. HLA-B8 was found in all 7 cases (100%) with shock and in 9 of the 13 (69%) patients who required dialysis, versus only 25 of 74 (34%) in the entire population, and 14 of 93 (15%) controls.
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Myocarditis
Wikipedia
Eosinophilic myocarditis is further distinguished from non-eosinophilic myocarditis by having a different set of causes and recommended treatments. [16] [17] Coxsackie B, specifically B3 and B5, has been found to interact with coxsackievirus-adenovirus receptor (CAR) and decay-accelerating factor (DAF). ... Journal of the American College of Cardiology . 59 (9): 779–92. doi : 10.1016/j.jacc.2011.09.074 . ... PMC 4340604 . PMID 25530442 . ^ Cunha BA (2009). Infectious Diseases in Critical Care Medicine . ... "Headshop heartache: acute mephedrone 'meow' myocarditis". Heart . 96 (24): 2051–2. doi : 10.1136/hrt.2010.209338 . ... Archives of Disease in Childhood . 89 (6): 580–4. doi : 10.1136/adc.2003.034686 .IL6, TNF, CRP, SLC22A3, SLC22A5, SLC22A4, IL10, IL17A, CTLA4, CXCL10, ACE, SPP1, CXCR3, LCN2, IL22, CX3CL1, TNFRSF11B, ICOS, MIF, ADRB2, CYP11B1, STAT6, TNFSF11, TNFRSF11A, PPA2, IL1B, SLC2A10, GPX4, ABCD1, IFNG, SMUG1, LGALS3, CD274, TLR4, IL4, IL1A, NLRP3, STAT3, NOS2, TNNI3, IFNA1, IFNB1, CXADR, TLR3, IFNA13, ATN1, LGALS9, COX2, ITGAL, ITGB2, IL13, IL1RN, HMGB1, NR1I2, MMP9, MMP2, IL37, GJA1, TLR7, NFE2L2, RAG1, IL33, MTCO2P12, MIR98, TSPO, CCL2, MIR155, CD68, CHRNA4, REN, ISYNA1, PTGS2, MAPK1, ITGAM, ESR1, PDCD1, TXN, GABPA, SST, ISG15, AIM2, GRAP2, STAT4, WNT5A, F2RL3, ADAM17, APLN, TACR3, VDR, MAP3K7, UTRN, TLR5, TEAD1, TFPI2, AIMP2, KEAP1, TFPI, TTN, TGFB3, THBS2, THM, ADAM9, TRAF6, THY1, DENR, TNFAIP3, WNT1, ADRB1, NR1I3, TMBIM1, SLC52A2, HDAC11, BCL2L12, PRRT2, EMB, TRIM69, PWAR1, TICAM1, DDX53, IL27, PPP1R42, PWAR4, MALAT1, MIR10A, MIR148A, MIR203A, MIR21, MIR214, MIR215, MIR30A, DEFB103A, MIR146B, MIR181D, CXADRP1, CCR2, MIR208B, KLRC4-KLRK1, NOD2, MYDGF, DNM1L, DEFB103B, EBI3, TRIM13, KLF2, CXCL13, AHSA1, FGL2, MORF4, RIPK3, RASSF1, KLRK1, DAPK2, RNF19A, POLDIP2, SLC17A5, PDCD4, RABGEF1, NOX4, IL21R, FOXP3, SCARA3, GDE1, GPRC5B, IL17D, TLR9, TREM1, TERF2IP, SLC52A1, TRIM21, PRKCA, SPG7, CYP11B2, DSC2, HBEGF, EDN1, EIF4EBP1, MARK2, EPHB2, EPO, ERBB4, ESR2, F2R, F2RL1, F3, F5, FOXO3, FUT4, CBLIF, GJA5, GCLC, GLS, GNAO1, GPX1, GRN, GSR, GZMB, NRG1, DMD, CX3CR1, HLA-DQB1, CTSB, AGT, AKT1, AKT2, APC, APEX1, FAS, FASLG, AQP4, ARR3, ARRB2, ARSB, CXCR5, CA4, CASP3, CASR, CD40, CLU, CREBBP, CRK, CRMP1, MAPK14, CSF1, CSF2, CSF3, CTH, HLA-DQA1, HLA-DQB2, SPARC, CXCL9, MST1, MYBPC3, MYD88, MYH6, NCAM1, NUP98, PAWR, PI3, PPARA, PRKAR1A, PRKCB, MAPK3, MAPK8, MAP2K7, PTPRC, RAP1A, RASGRF1, S100A8, S100A9, SLC2A1, SMN1, SMN2, SNRNP70, SOD1, SOS1, MSN, MEFV, HMGA1, MDK, HMOX1, HSPA4, HSPB1, IDS, IFNA2, IFNGR1, IFNGR2, IGHMBP2, IL3, CXCL8, TNFRSF9, ILK, INS, IRF1, IRF3, IRF5, ITGAX, ITK, JAK2, KIT, KLRB1, LAG3, MAS1, MB, MBP, ORI6
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Arachnoid Cyst
Wikipedia
S2CID 36127070 . ^ Berle M, Wester KG, Ulvik RJ, Kroksveen AC, Haaland OA, Amiry-Moghaddam M, Berven FS, Helland CA (June 2010). ... Wien. Klin. Wochenschr . 118 Suppl 2: 85–8. doi : 10.1007/s00508-006-0540-2 . ... "Suprasellar arachnoid cysts: endoscopy versus microsurgical cyst excision and shunting". Br J Neurosurg . 21 (3): 276–80. doi : 10.1080/02688690701339197 . ... "Arachnoid cysts: case series and review of the literature" . Neurosurg Focus . 22 (2): E7. doi : 10.3171/foc.2007.22.2.7 . PMID 17608350 . ^ Weber F, Knopf H (January 2006). "Incidental findings in magnetic resonance imaging of the brains of healthy young men". J. Neurol. Sci . 240 (1–2): 81–4. doi : 10.1016/j.jns.2005.09.008 .
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Hepatitis B Vaccine, Response To
Omim
It had been found that the low responders included a greater-than-expected number of homozygotes for the MHC haplotype HLA-B8,SC01,DR3. In the follow-up study of 5 homozygotes and 9 heterozygotes for this haplotype, Alper et al. (1989) found a striking difference in antibody response between the 2 groups. ... Immunology - Bimodal antibody response to hepatitis B vaccine - Low response associated with MHC haplotype HLA-B8,SC01,DR3 Inheritance - Autosomal dominant ▲ Close
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Abortion In Georgia (U.s. State)
Wikipedia
I'll fight for life at the Capitol and in the courtroom." [19] After being passed in the House on March 7, 2019, HB 481 was passed out of a Senate committee on March 18, 2019. [20] [21] It was subsequently passed by the entire state Senate, after which it was narrowly passed by the House 92–78. [22] The bill was signed by Governor Kemp on May 7, 2019, bringing into effect one of the strictest abortion laws in the country at the time. [23] The bill would prohibit abortions after a heartbeat can be detected in a conceptus, which is usually when a woman is six weeks pregnant. [24] It was one of several states passing heartbeat bills in April and May, 2019 alongside Missouri, Louisiana and Alabama. [25] Judicial history [ edit ] The US Supreme Court 's decision in 1973's Roe v. ... Family Planning Perspectives . 8 (2): 86. doi : 10.2307/2133995 . JSTOR 2133995 . ... American Journal of Public Health : e1–e5. doi : 10.2105/AJPH.2020.305653 .