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Autoimmune Disease
Omim
The 4 affected persons shared an HLA haplotype: A1, C-, B8, DR3 and Dw3. Lippman et al. (1982) found a high frequency of autoimmune manifestations, both clinical and laboratory, in relatives of a proband with autoimmune hemolytic anemia, 1 with immune thrombocytopenic purpura and 8 with systemic lupus erythematosus (SLE; 152700). ... They analyzed 18 autoimmune kindreds, concluding that the population frequency of the postulated autoimmune gene is approximately 0.10 with penetrance estimates of 92% in females and 49% in males. They proposed the existence of a primary autoimmune disease gene that is epistatic to other secondary genes that influence the autoimmune phenotype, including those of the major histocompatibility complex (MHC).PTPN22, TPO, TG, IL17A, IL6, CD40LG, IFNG, IL4, SIRT1, FAS, CD28, STAT3, TNFRSF1A, TNFAIP3, FCGR2B, CXCR3, AICDA, SIAE, C4B, TNFRSF4, TIMP1, HP, PECAM1, TGFB2, B2M, PF4, FBL, EGR1, HMGCR, RBP3, F8, COPA, HPX, KRT19, RAPSN, SOD2, CRYAA, HSPA9, CRYBB2, COL1A1, ITGB6, C1S, HARS1, AHNAK, CCR6, TYK2, ICOS, CD226, IL23R, STAT4, CD40, IL2RA, IRF5, TSSK1B, TNFSF15, PTPN2, CD247, BACH2, UBASH3A, ERAP2, JAK1, IL2RB, ETS1, TNIP1, CAMK4, TRAF1, SH2B3, TAGAP, CARD9, IFI16, UBE2L3, ZMIZ1, CCR3, INS-IGF2, KIF5A, KIAA1109, REL, FLT3, ANKRD55, SMAD3, SH2D2A, FUT2, RASGRP1, VAV3, ATG16L1, ATG5, TNFRSF11B, NTRK1, KCNH7, SLC22A5, ICOSLG, AFF3, ATXN2, IL1A, SUOX, CLEC16A, SLC11A1, CCDC88B, PSMD5, IL17D, IL1B, LURAP1L, MB21D2, CRP, FAM107A, MPO, IL7, STING1, FOXP3, GEM, MYD88, MOG, ELMO1, CXCL10, IL27, GPR35, INS, FCGR3B, PRL, C1QTNF6, FCGR3A, FCGR2A, FAP, PUS10, TNFSF13, IL2, CIITA, IL1RN, SPATA13, NFKB1, IL23A, SLC30A10, IL18, CSF2, MMEL1, NLRP3, IL17F, ATN1, IL16, IGF2-AS, DAG1, IL15, GAD2, LINC02656, C12orf42, LINC02649, DPP4, GAD1, IL12B, CCN4, DDX6, ARID5B, RO60, TRIM21, HSPA14, ATXN2L, CXCL12, IL10, MIR146A, TNFSF10, IL37, MIR155, CTLA4, TLR7, ACKR3, CRB1, IL7R, FNBP1, ERAP1, STAT1, SOAT1, PLXNC1, IL9, TREX1, MBL2, SLC30A8, SPRED2, SPP1, C1orf141, YDJC, MIR3681HG, FASLG, AQP4, PTCSC2, LINC00824, LINC01250, LEP, TNFRSF13B, LINC01934, IL33, ANKRD30A, KLRC4-KLRK1, BCL2, NOD2, HMGB1, SAMHD1, BLK, CD274, HLA-G, CPT1C, PDCD1, PADI4, LPP, TTC34, BTK, NONOP2, ITGAM, TP53, VDR, IL12A-AS1, PIK3CA, PIK3CB, LINC00993, TNFSF13B, NKD1, HSPD1, KIR3DL1, LINC02605, IL21, ADCY7, PLEK, LRRK2, PLEKHA1, TNFSF4, RAB5C, RMI2, PHF19, AHR, TSHR, KRT20, PIK3CG, LINC02752, LINC02357, ALDH2, LINC02341, PIK3CD, MACIR, TMEM131, NEURL4, AIRE, LINC00271, IFIH1, FCRL3, IFNA1, HLA-C, HLA-B, HLA-A, CCL2, IFNA13, CD1D, NLRP1, TGM2, IRF1-AS1, CD19, MS4A1, CD22, CD86, HT, CD38, ADGRL2, TGFB1, CUTALP, SH2D1A, LRBA, TLR9, HAVCR1, DLEU1, IL22, HAVCR2, TRBV20OR9-2, RAB5B, KLRK1, MYDGF, ISG20, HLA-DQB1, MALT1, MROH3P, TNF, RBM45, ARHGAP31, CGAS, HLA-DQA1, TNFRSF1B, TLR4, HLA-DRB1, PRTN3, ABCB1, PRDM1, CR2, NUDT11, CYBB, PTPRC, ESR1, HSPA4, SUMO4, ZAP70, ENO1, JAK3, ADAR, HLA-DPB1, ARHGEF5, DSG3, KLK3, CBLB, TIMELESS, CD24, TLR2, MBP, S1PR1, TPMT, NCF1, LTA, SH2B2, RNPC3, EBI3, SYK, MMP9, WAS, IFNB1, APOH, ACE, ACAD8, STIM1, CDR3, IFN1@, HCRT, MTOR, NR3C1, SNCA, FCGRT, MAPK1, NFE2L2, VIP, LINC01193, CD44, TLR8, CYP27B1, CD47, DNASE1, IL18R1, MIF, CCR5, HNF1A, GRN, RUNX1, GPR42, GZMB, GLUL, CD80, PLAAT4, MIR21, CBLL2, SOCS1, ADIPOQ, VIM, HLA-DOA, PRKN, LPAR2, ADRA1A, ADRA2B, CXCR6, S100A9, LGALS9, RAG1, JAK2, SERPINA1, TNFRSF13C, LGI1, ANP32B, BRS3, VEGFA, HLA-DQA2, IDO1, IL34, MUL1, SLAMF1, CXCR4, DECR1, EDNRA, TNFRSF14, TNFRSF9, TAM, SSTR4, GFAP, PTEN, AFP, TBK1, DOCK8, BCL6, ITGB2, MRGPRX3, TPI1, C4A, MS, NR0B2, CCR2, C5AR1, GPRC6A, GIMAP5, CAMP, SLC22A4, TNFRSF12A, ICAM1, IRF8, S100A8, ADRB2, MFGE8, MRGPRX1, CNTNAP2, ICA1, FLI1, MRGPRX4, LGR6, AKT1, REG1A, HSPA1B, FZD4, APCS, AIM2, PSIP1, BTG3, IL13, CASR, MIR17HG, MBTPS1, CEACAM5, LINC01194, BANK1, CCL21, OXER1, CSK, PTX3, CCR7, LILRA3, COL17A1, ZFP36, TBC1D9, FCGR1A, ORAI1, TNFRSF8, DNASE1L3, MYO9B, LILRB4, MAVS, SSB, GABPA, PSMB8, GPR151, GPR166P, LPAR3, VN1R17P, IL24, KIR2DS1, ITGAL, KIR3DL2, LGALS1, INPP5D, ITGAX, CXCL8, IRAK1, IFNAR1, TNC, KLRB1, LGALS3, CLEC4A, CD69, PRKCQ, DDX58, TNFSF14, NM, MAP4K3, IL17B, MAPK14, EGR2, MIR142, IRAK4, CD55, DBP, HSP90AA1, MUC1, DSG1, NR4A2, ROBO3, TBX21, CALR, ACP1, AGER, HRH4, USO1, PPARG, LOC102724971, ANXA1, LOC102723407, PTPA, HPSE, SEC14L2, CEACAM1, ARID5A, NXF1, MERTK, MTHFR, DNMT1, GNAO1, NT5C1A, CFH, CD83, CCL3L1, BTLA, HLA-DQB2, GCK, MSC, HLA-DRB3, IL32, HMOX1, SELL, NR4A1, FMR1, PTPN6, FLNB, LGALS8, IL1F10, HSPA1A, ZC3H12A, FOXO1, PDCD1LG2, BTNL2, CD276, MEFV, THSD7A, FOXJ1, HIF1A, PML, TP63, KRAS, SPPL2A, PGF, ERVK-6, POMC, LSM2, MRC1, RNF19A, CD46, MST1, CD200, COX2, PSMB9, LAG3, TNFAIP8L2, NFATC2, PTGS2, NFAT5, FAM167A, NOS2, PELI1, SMAD7, NT5E, RAB4A, IKZF4, IGHV3-52, POU1F1, SIRPG, IFNL1, DNASE2, POLDIP2, LCE3C, LCE3B, GPR183, EGR3, DST, DEK, SLC20A1, MIF-AS1, MAP4K1, MICA, HDAC9, BCR, RPL17-C18orf32, IFNL2, ESR2, HSP90B1, ESRRB, CXCL13, COPD, EZH2, SPATA2, ENTPD1, C3AR1, LRPPRC, CASP1, TLR5, IL20, IL21R, CDKN2A, CD34, CD14, CD52, CTSC, CHI3L1, DEF6, CD3E, CCR4, MBL3P, ADAM17, COL4A3, MIR326, KLRG1, CRK, STAT6, STAT5B, CTNNB1, CYP21A2, ADAMTS13, SEMA3A, GDE1, F9, PADI2, RORC, SERPINB3, AHSA1, LRR1, TRAF3IP2, DEXI, AGT, MTCO2P12, PARP1, HRES1, RPL17, SLAMF6, TREM1, IGHG3, ADA, ACTB, TYRO3, IL6ST, SOCS3, TMEM39A, IRF1, DNER, RAG2, HLA-DRB4, HLA-E, ROCK2, GH1, TRAF6, ISG15, FLII, C9orf72, AIMP2, SGK1, TIGIT, AR, GUCY2C, NUDT10, IKZF1, ALB, CCL5, AMPH, GRAP2, TYR, TRAF5, TYRP1, KDM6A, TPM3, HSP90B2P, TTN, RGCC, SGSM3, VPREB1, TLR3, PRKAR1A, PREP, THM, VAV1, SUGP1, STIM2, SP100, TFF3, SLC7A5, CD244, RTEL1, POU2AF1, CXCL5, NR4A3, CCL20, SCO1, ATF7IP, OTUB1, PTPRN, PRKDC, PTPRN2, TET2, SAMD9, RPS19, NECTIN1, FEZF2, RGS1, NEIL3, NUDT15, SHBG, PTGER4, GSDMB, PMEL, TCF7, CNTN2, TAP2, TAP1, PROC, ST2, SSRP1, GPR65, LEF1, DPYSL5, SPG7, MANF, SH3BP4, PSMD7, FOXD3, SLC5A5, DTL, IL17RA, LST1, SELE, H3P28, GLIS3, DEFB1, EGFR, CELSR3, BCL2L11, ABCB6, TSC22D3, IL1RAPL1, DLAT, DHODH, OPTN, POLR3A, CD160, VGLL3, CNR2, G3BP1, CYP24A1, MIR125A, CYP2B6, CXADR, MIR150, CST3, MIR17, TRIM13, MIR204, MIR22, EIF4E, CELA1, ELANE, WDHD1, RC3H1, GRIA3, GPER1, GPI, KAT2A, GAS6, LRRC32, GAPDH, SIGIRR, ACKR1, USP18, SOX13, FOLR2, NCR3, EXT1, ETV5, ERN1, ERBB3, ERBB2, EPO, EPHB2, NR1I3, ARMH1, CORT, MIR223, SIRPA, ARRB2, C5, TEC, FST, SERPING1, BSG, C4B_2, LILRB1, CXCR5, BAK1, LINC-ROR, ASCL2, ARR3, CNGB1, APOA1, BIRC3, ANXA5, AIF1, AHCY, JAG1, ERVK-32, ADAM10, ACP3, H3P13, MASP2, CXADRP1, CALCA, MIR499A, CASP3, CMKLR1, MIR23B, MIR29B1, MIR29B2, RABEPK, PRSS16, CDKN2D, LILRB2, LANCL1, CD74, CD72, CD70, CD59, TNFSF8, CD5L, CD4, CD1C, SERPINH1, WG, TRIM22, CAV1, EBNA1BP2, NOD1, CXCL1, IGHE, NR1I2, NRAS, RPSA, TNFSF12, NFKBIL1, MARCKSL1, LAIR1, LAD1, NOS1, KRT14, NOS3, KDR, KCNA3, OTULIN, JUNB, BMF, HARS2, ITGA4, PNP, MPZ, TIMD4, NEFM, LIF, GPR174, MDM2, ABCC1, WLS, COTL1, HDAC11, TARDBP, TNFRSF6B, CD84, MECP2, CFLAR, LPL, RIPK2, LYZ, HDAC3, LRP4, SYVN1, VTCN1, TNFSF9, LRP1, BCL11B, IRF7, TNFRSF25, HSPE1, IRF3, VSIR, SMOC2, PROK2, HRH1, IL1RL1, HOXC6, PLA2R1, ARHGEF2, HNRNPA1, MORC3, HNF4A, PKM, PLCG2, HLA-DRB5, PDLIM7, CD200R1, PAEP, NR3C2, IL22RA2, CLEC7A, PDX1, DEPTOR, ORMDL3, SEMA5A, IL6R, IL5, IL3, ARHGEF28, IL2RG, IGF1, IDDM8, SMUG1, TNPO3, CCR9, BRD4, UTS2, HCST, IGHV3-69-1, CLCF1, PDE10A, KLRA1P, IGHV3OR16-7, CD300C, SNAPIN, IFI44L, TSSK2, CARD8, TNRC6A, SLC7A9, ARHGAP26, PHGDH, HECW1, KIF21B, CLEC4E, MON2, ERAL1, PKP3, HRH3, SP140, DUSP12, FGF21, WDTC1, HSPB8, VSIG4, IL36RN, HBP1, STK38, MMRN1, ARL5A, CDC42EP1, HPGDS, LAT, DICER1, GCA, TNFAIP8, PRDX5, JMJD6, SS18L1, TNFRSF21, IKZF3, DSTN, RIPK3, WWP2, ACSBG1, CNTRL, DUSP14, AGO2, CIC, TAB2, DKK3, CDK19, CABIN1, NLRC5, TRIB2, IFNL3, MLKL, NLRC3, CRTC2, PRSS55, OTUD1, JAZF1, ADGRG3, VAMAS6, YTHDF3, NPNT, SGMS1, MILR1, THEMIS, GSDMA, TREML4, CLEC4D, TSPAN33, SYCN, TGM6, IRGM, TICAM2, AIS1, GSTK1, MALAT1, PGAM5, IDO2, GIMAP7, IFNLR1, EGLN2, PRRT2, TIRAP, LYPD1, GRIN3A, CYP2R1, RHEBL1, H4-16, PLD4, SOCS4, ZPBP2, SPNS2, NLRP5, TNFAIP8L1, IL17RE, SLCO6A1, DEFB104A, BPIFA2, SMCR8, PWAR1, SIX5, PLB1, ANKFN1, IL31, ILDR2, CCDC22, MIR3614, H4C15, MIR20B, MIR146B, HNRNPA1P10, MIR584, KIR2DS2, HLP, DEFB4B, MIR1238, MIR1908, TMED7-TICAM2, RAB4B-EGLN2, RTL1, ERVK-20, PSC, ERVK-18, LINC01882, LOC105379528, GSTT1-AS1, RN7SL263P, SIRT1-AS, EEF1AKMT4-ECE2, H3P23, H3P24, DEFB104B, MIR424, MIR423, MIR382, CCL4L1, LOC390714, ST20, LINC00951, MIR140, MIR148A, MIR15A, MIR182, MIR183, MIR199A1, MIR199A2, MIR20A, MIR221, MIR30A, MIR320A, MIR34A, MIR93, MIR96, TNFSF12-TNFSF13, DEFB103A, MDD1, MIR340, CISD2, EPSTI1, FOXQ1, FOXP2, XKR8, PTOV1, IL20RA, IL20RB, DNAJC10, APBB1IP, EGLN1, BCOR, PXK, BANP, LAMTOR1, MARCHF1, RAVER2, BPIFB1, QRSL1, FBXW7, LGR4, PRO2268, GPRC5D, VAC14, ZNF415, PAG1, ASH1L, GPRC5C, DEFB103B, RTRAF, TRIM33, HDAC7, POMP, DCPS, FLVCR1, C1GALT1C1, IL19, EFEMP2, ERVW-1, CXXC1, MINK1, CD207, NOX3, DELEC1, F11R, TRAT1, TMED5, TMED7, GAL, CRYL1, CHCHD2, DCXR, MZB1, TFDP3, UBAP1, SLC25A37, SUCNR1, RETN, SPHK2, SLC52A2, RTL10, MANEA, CCDC134, KIAA0319L, NAA25, ARMC9, TET1, TSGA10, MPIG6B, HM13, UNC93B1, FCRL4, GPR61, ZCCHC7, HVCN1, CARD11, SPZ1, INSM2, FCRLA, TMEM60, TRIM5, SYS1, ZNF804A, NLRX1, FCRL2, C1GALT1, MMP28, DUSP22, PCBP4, CD248, CD177, SLURP1, ABHD6, GATAD2B, SERINC1, TAOK1, ZFAT, NCOA5, ZNF410, CXCL16, IGAN1, GAS5, BCORL1, PDLIM2, AZI2, IL25, CDCP1, PINK1, RAPH1, DHX58, YME1L1, ABCA4, POLD3, HGF, HLA-DRB2, HLA-DRA, HLA-DPA1, HLA-DOB, HLA-DMA, HK1, HELLS, HMGN1, HDAC1, GZMK, GYPA, GTF2B, GSTT1, GSTM1, HLA-F, HMGN2, IFIT3, HSPA1L, CFI, IDDM6, IAPP, HSPG2, HSPA8, HSPA2, HES1, FOXA1, PRMT1, HRH2, HPRT1, TLX1, HNRNPD, FOXA2, GSN, GRM3, GRIN2A, FOXO3, FOSB, FOS, FOLR1, FLT3LG, MLANA, FLG, FKBP1B, GRIN1, FKBP1A, FHL1, FH, FEN1, FCN2, FCN1, CENPI, FUCA1, FUCA2, FUS, FUT1, SLC37A4, GATA3, GC, GCG, GCH1, GFER, GFI1, CBLIF, GPC3, GPR25, GPT, GPX1, IFI27, IGFALS, NFATC1, MAS1, MAP3K1, MEF2D, MDK, MCM3, MCL1, MCAM, MARK1, MICB, MAN2A1, MAG, SMAD4, M6PR, LTBR, LTBP3, KITLG, CXCL9, IGFBP3, MYH1, NCF4, NCF2, NCAM1, NARS1, NAIP, MYH9, MUTYH, MLH1, MTX1, MTTP, ATP8, ATP6, MSH2, MMP1, LTB, LRP2, LPA, IL12RB1, ITK, ITGAE, IRF6, IRF2, ING2, ILK, IL9R, LMNA, IL4R, IL1R1, IKBKB, IGHA1, CCN1, IGFBP6, ITPA, ITPR3, JUN, JUND, KARS1, KIR2DL2, KIR3DS1, KLRC1, KLRD1, KNG1, KRT1, KRT10, KTN1, LAMB1, LBR, LGALS3BP, LIG4, FABP4, F5, F3, C2, CA5A, CA1, FMNL1, C4BPB, C4BPA, C3, C1QA, CACNA1A, C1QBP, TSPO, BTC, ZFP36L1, BRAF, BMP7, CA6, DDR1, F2R, CAV2, CD8A, CD3G, CD2, CCT6A, CBL, RUNX3, CAT, CALCR, CASQ2, CASQ1, CASP10, CASP8, CAPZB, CALML3, BMP5, BMP2, BMI1, AGRP, AMH, ABCD1, ALCAM, AKT2, NR0B1, AGTR1, ACAN, CFB, ADRB1, ADM, ACTA1, ACHE, ABR, ABO, ANPEP, ANXA6, BIRC2, APOE, AREG, ARG1, ARNTL, ARSD, ARSL, ATP4A, ATP5PO, AVP, AXL, BACH1, BAX, BCL3, BDNF, CD27, CD36, CDK1, DPT, DUSP2, DUSP1, DTX1, DSC2, DSC1, SLC26A3, DNMT3A, DDIT3, DIO2, DIAPH2, DHFR, DHCR7, GSDME, DEFB4A, E2F2, ECM1, EGF, ELAVL2, ELAVL4, ELK3, ELN, MARK2, ENG, ENO2, ENO3, EPHA4, EPHB1, NR2F6, ERG, ERV3-1, EXT2, DDX5, GADD45A, CDC25C, CLU, CREB1, CR1, COX8A, MAP3K8, COL9A3, CNR1, CHRNA4, DCT, CHI3L2, CFTR, CDR2, CDK9, CDK8, CDH1, CREBBP, CREM, CRYGD, CSF3, CSF3R, CSN2, CCN2, CTSB, CTSG, CTSV, CTSS, CYP2C19, CYP2D6, CYP2E1, CYP3A5, CYP19A1, DCC, NEU1, NFIL3, DCTN6, H4C1, H4C8, H4C3, H4C11, H4C12, H4C6, H4C4, EOMES, H4C5, H4C9, NCOA3, MADCAM1, AP3B2, KMT2D, FOSL1, H4C2, H4C13, EIF3C, KHSRP, RNASET2, RTCA, PDE8B, TNFSF11, PRKRA, PDLIM4, YARS1, H4C14, BHLHE40, IKBKG, PARG, CILP, PLA2G6, LOH19CR1, CSRP3, DDX39B, SCLC1, TSPAN7, TRP-AGG2-5, TRAF3, CRISP2, TPP2, TOP1, TNP1, TIAM1, IL1R2, THBS1, TH, TGFBR2, TGFBI, TGFB3, TERT, TRPC1, TRPM2, TSC2, TTR, TXN, TYROBP, UBE2D3, UBTF, USP4, VCAM1, WFS1, WNT5A, XRCC1, YWHAZ, ZBTB16, RNF112, DNALI1, KCNK5, RIPK1, NFKB2, BCAP31, DDX39A, PSME3, ATP6AP2, TRIM28, TOB1, NAMPT, CERT1, TRIB1, TSPAN32, PTPRU, IL18BP, HDAC6, DGCR2, GAB2, PSMD14, AKR1A1, TNFRSF18, ZNRD2, KLF1, CELF2, KHDRBS1, RBCK1, SLCO1B1, BATF, KAT5, CCL26, SEMA4D, IFI30, PRMT5, CPQ, KLF2, ABCA7, TOX, ECE2, SOCS5, KAT2B, F2RL3, MBD2, BCL10, EIF2B5, SPHK1, IER3, ALKBH1, RGS6, SOCS2, GMPS, NRP1, IL1RL2, IL18RAP, TNFRSF11A, ARTN, PSTPIP1, CBFA2T2, PDCD5, MYOM2, OSMR, LRRFIP1, STK17B, S1PR2, CD163, RPL23, ABCG2, GSTO1, IL27RA, GOSR1, CLOCK, APOBEC3B, TMBIM6, TDO2, TBP, PRKCA, MAP2K2, MAP2K1, MAPK3, PKN2, PRKCD, PRKCB, PRKAB1, PRLR, PRKAA2, PRKAA1, PRF1, PPP2R2B, PPL, PPARD, EIF2AK2, PROS1, TALDO1, PSME1, PTPN12, PTPN11, PTPN1, PTN, PTGER2, PTCH1, PSMD13, PRSS1, PSMD10, PSMD9, PSMD4, PSMB10, PSMA6, PSG1, PPARA, POU2F1, PON3, OCA2, SERPINE1, P4HB, P2RY11, P2RX7, OSM, SLC22A18, OAS1, PNN, YBX1, NPR3, NOTCH3, NME1, NGF, NFKBIA, PAK2, PAX4, PBX1, PDE3B, PDE4A, PDGFRA, VIT, SLC25A3, PIGA, PIM1, PIK3R1, PIN1, PLA2G1B, PLD1, PLG, PLP1, PMP22, PTPN13, PTPRM, PVR, SLC2A1, SIGLEC1, SMARCE1, SLC22A1, SLC6A8, SLC6A2, SLC3A2, SLC1A5, XCL1, SKI, SH3BP2, SRSF1, SELPLG, SELP, SDCBP, SNRPD1, SOD1, SOD3, SOS1, ABL1, SPIB, SPR, SPTAN1, SST, ST14, STAT5A, STK3, AURKA, STK11, STYX, TBXT, TACR3, SDC1, CCL24, NECTIN2, RBBP6, RIEG2, RHEB, RHD, RFX1, REN, OPN1LW, RASGRF1, CCL22, RASA1, RANBP2, RAF1, RAD51B, RAC2, RAC1, RNASE3, RORA, RPA2, RPS6KB2, RPS26, RRAS, S100A1, S100A10, S100A12, S100B, SAA1, SAA2, SAFB, SATB1, SCD, CCL17, CCL19, SPARC
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Gluten-Sensitive Enteropathy–associated Conditions
Wikipedia
Reduced iron and the lack of vitamins folate, B 6 , B 12 and malabsorption of essential fatty acids can cause depression and chronic fatigue. [90] Anti-gliadin antibodies correlate with higher risk for chronic-fatique when no clinical finding of CD is present. [91] While fatigue is reduced on gluten-free diet, bouts of depression can become worse. [90] Connective tissue disorders [ edit ] Arthritis [ edit ] Some instance of arthritis with small bowel villous atrophy have been found to resolve on gluten free diet, [92] and anti-connective tissue antibodies have been found in increased levels in celiac disease. [93] Anti-rheumatoid factor antibodies are also increased. [94] In addition, cross-reactive anti-beef-collagen antibodies (IgG) may explain some rheumatoid arthritis (RA) incidences. [95] Although the presence of anti-beef collagen antibodies does not necessarily lead to RA, the RA association with Triticeae consumption is secondary to GSE and involves DRB1*0401/4 linkages to DQ8 [96] and is debatable. ... Biological Trace Element Research . 88 (1): 25–30. doi : 10.1385/BTER:88:1:25 . ... Journal of Clinical & Laboratory Immunology . 6 (1): 81–5. PMID 7196455 . ^ Dickey W (2002). ... PMID 11943958 . S2CID 24979028 . ^ Depla AC, Bartelsman JF, Mulder CJ, Tytgat GN (1990). ... "Prurigo nodularis and gluten enteropathy". Br. J. Dermatol . 95 (1): 89–92. PMID 952746 . ^ Francesco Stefanini G, Resta F, Marsigli L, et al. (1999).
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Trichotillomania
Wikipedia
. ^ a b c d e f g h i j Huynh M, Gavino AC, Magid M (June 2013). "Trichotillomania". Semin Cutan Med Surg . 32 (2): 88–94. doi : 10.12788/j.sder.0007 . PMID 24049966 . ^ Pittenger, Christopher (2017). ... Psychosomatics . 35 (2): 142–9. doi : 10.1016/S0033-3182(94)71788-6 . PMID 8171173 . ^ "What is Trichotillomania" "What is Trichotillomania (Hair Pulling Disorder)?" ... "Fatal case of Rapunzel syndrome in neglected child". Forensic Sci. Int . 190 (1–3): e5–7. doi : 10.1016/j.forsciint.2009.05.008 . ... "Evidence for reduced cerebellar volumes in trichotillomania". Biol. Psychiatry . 61 (3): 374–81. doi : 10.1016/j.biopsych.2006.06.013 .
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Side Effects Of Bicalutamide
Wikipedia
Interstitial pneumonitis ? Gifford & DeLong (2008) 7 85 years Male ? 4 months Interstitial pneumonitis Death Kawahara et al. (2009) 8 78 years Male 80 mg/day 8 months Interstitial pneumonitis Recovered Masago et al. (2011) 9 77 years Male ? ... The median age of the patients was 73.5 years (range 59 to 91 years), and median duration of bicalutamide exposure was 7.5 weeks (range 1 to 312 weeks). ... "The role of antiandrogen monotherapy in the treatment of prostate cancer". BJU Int . 91 (5): 455–61. doi : 10.1046/j.1464-410X.2003.04026.x . ... Urology . 47 (1A Suppl): 70–9, discussion 80–4. doi : 10.1016/s0090-4295(96)80012-4 . ... The Journal of Toxicological Sciences . 22 (2): 75–88. doi : 10.2131/jts.22.2_75 . PMID 9198005 . ^ a b Smith RE (4 April 2013).
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Cardiovascular Disease
Wikipedia
Prevention Up to 90% of cardiovascular disease may be preventable if established risk factors are avoided. [5] [86] Currently practiced measures to prevent cardiovascular disease include: Reduction in consumption of saturated fat : there is moderate quality evidence that reducing the proportion of saturated fat in the diet, and replacing it with unsaturated fats or carbohydrates over a period of at least two years, leads to a reduction in the risk of cardiovascular disease. [87] [ needs update ] Stopping smoking and avoidance of second-hand smoke. [88] Stopping smoking reduces risk by about 35%. [89] Maintain a healthy diet , such as the Mediterranean diet . [88] Dietary interventions are effective in reducing cardiovascular risk factors over a year, but the longer term effects of such interventions and their impact on cardiovascular disease events is uncertain. [90] At least 150 minutes (2 hours and 30 minutes) of moderate exercise per week. [91] [92] Limit alcohol consumption to the recommended daily limits; [88] People who moderately consume alcoholic drinks have a 25–30% lower risk of cardiovascular disease. [93] [94] However, people who are genetically predisposed to consume less alcohol have lower rates of cardiovascular disease [95] suggesting that alcohol itself may not be protective. Excessive alcohol intake increases the risk of cardiovascular disease [96] [94] and consumption of alcohol is associated with increased risk of a cardiovascular event in the day following consumption. [94] Lower blood pressure, if elevated. ... World Health Organization in collaboration with the World Heart Federation and the World Stroke Organization. ISBN 978-92-4-156437-3 . Archived from the original on 2016-05-06. ^ a b Ciaccio EJ, Lewis SK, Biviano AB, Iyer V, Garan H, Green PH (August 2017). ... BMJ . 328 (7455): 1519. doi : 10.1136/bmj.38142.554479.AE . PMC 437139 . PMID 15213107 . ^ World Health Organization; UNAIDS (2007). ... Journal of the American Dietetic Association . 110 (4): 585–92. doi : 10.1016/j.jada.2009.12.024 . hdl : 2097/6377 .NOS3, LPA, APOB, APOE, ADRB1, ICAM1, ALB, LPL, GH1, APOC3, MPO, MTHFR, NPPB, VWF, EDN1, VCAM1, PON1, ACE, CETP, PTGS2, CST3, CCL2, AGT, CRP, HP, CYP2C19, NPY, SELE, CBS, SORT1, PON2, GPX1, GRK2, GRK5, SLC12A2, TNNT2, AGER, HMGCR, CHDH, LDLR, FTO, PCSK9, VDR, ABCG8, FBN2, LIPC, SH2B3, CASZ1, CYP11B2, DNMT1, TNC, DBH, INSR, PRKAG2, ADH1B, MEPE, BACE1, SCAF1, GCKR, MYBPC3, FUT2, CDKAL1, WRN, NPC1, PLPP3, RORA, MRAS, NPR1, SLC7A1, MCF2L, GUCY1A1, COL4A1, SEPTIN9, TNFRSF11B, OPRL1, PLG, TANGO2, EBF1, GOLGA6A, PLA2G2A, PKHD1, AAGAB, IL1B, PIK3CG, ZNF831, SERPINE1, UPF3A, CELSR2, EPHX2, COPD, HNF1A-AS1, PAX2, NDUFAF6, ENPEP, OR10A4, EFCAB13, PRDM16, DPYSL2, HOXB-AS3, BAHCC1, LINC01122, PREX1, CYBA, LINC02245, RBP4, CASC15, REG1A, PTX3, REN, PLEKHG1, REXO1, LIN54, JPH2, RGL3, SAA1, LINC01344, IGF1, DPP4, DECR1, DPEP1, PPARA, PPARG, EBF2, DLG2, HS1BP3, PRKCE, TMBIM1, PTH, CCDC148, OLR1, DBP, THADA, ACE2, CPEB2, ABHD17C, THAP9, LCORL, ESR1, TIMD4, CADPS2, FGD5, PRDM6, GML, HMOX1, GLP1R, LINC01312, FREM1, ZFAND2A, CDCA5, IL6, LSP1, NAV1, DOCK7, UBASH3B, HOXB3, MBL2, ADO, LGALS3, LEP, HOXC4, APOA5, IL18, ARHGAP42, OR10AD1, HIVEP2, INPP5A, HGFAC, IL10, AGAP1, C1QTNF4, LCN2, PHF13, APCDD1L-DT, NLRP3, GTF2I, KNG1, KPNA4, SLC9B1, NR3C1, HOXB5, GCG, ESR2, HPR, FES, NFATC2, NFE2L2, CCDC170, BICC1, NMT1, DBH-AS1, SVEP1, FABP4, FGB, TTC41P, NPNT, F3, RNF214, F2, MECOM, EHMT1, ALG9, MYO9B, MXI1, KDM2B, ANO5, NAA38, NR3C2, MMP2, GABPA, TCHP, UNC13D, MMP9, DCUN1D5, ZCCHC7, TMEM72-AS1, NKAIN4, PDILT, NCALD, MXD3, CABCOCO1, APOLD1, DLEU7, CMIP, NFKBIA, ZDHHC18, ATXN2, SELENBP1, PKD2L1, PDYN-AS1, ATP2B1, RERE, S1PR2, SLC9A3R2, KL, ADIPOQ, DNAJC27-AS1, DDX23, MYEOV, FGF21, GDF15, ZGLP1, GOSR2, USP34, KANK2, PNKD, APOA1, AVP, ZPR1, CACNA1D, MACROD1, VPS51, PLCE1, HSD17B12, AXIN1, MAD1L1, ATL1, APOL1, RUVBL1, UNC5C, DELEC1, UBN1, BDNF, UHRF1, ALDH1A2, LINC00452, HNRNPFP1, HRCT1, APLN, HIPK2, GIT2, C22orf31, HOTTIP, CERT1, CCND2-AS1, CRTC1, ZNF268, PDE10A, ADM, ADK, PLCB1, UTS2, ADCY9, SWAP70, CLUAP1, SORCS3, NT5C2, HSF2BP, LINC02646, ABO, HIBADH, IL1RAPL1, ABCA1, SORBS1, AGTR1, ATG7, C5orf67, ANGPT2, LHFPL2, TSPOAP1-AS1, GLYAT, TARID, DLEU1, LINC02227, LINC01478, LIPC-AS1, AHSG, ALOX5, CFDP1, ZFPM2, C1QTNF7-AS1, ALDH2, LINC01169, LINC02576, SIRT1, FGF23, RPS6, CACNB2, CHI3L1, CD36, TNF, TLR4, CCHCR1, TGFB1, ARL15, TERF2, PLA2G7, PAQR5, PGPEP1, RNF43, TXNL4B, BANK1, MIR21, ZC3HC1, ARMC4, RCBTB1, SPP1, CLCN6, SOS2, TBC1D19, ABCF3, SOX6, SLC5A2, SHBG, SELP, RETN, C1GALT1, CD14, BCAS3, CCND2, SPTBN5, WNT2B, YES1, IRF1-AS1, PALM2AKAP2, WT1-AS, LIMA1, VEGFA, CAD, ANGPTL3, ADAMTS13, MGP, PGR-AS1, IL1A, HGF, ELN, APLNR, DSPP, COX2, FLNA, SMUG1, BMS1, IL6R, TCF7L2, ACACA, BGLAP, IL33, ADRB2, NOX4, PIK3CA, ACTB, CXCL12, SOST, MTCO2P12, SIRT3, CDKN2A, PIK3CB, NHS, TM6SF2, TNNI3, PIK3CD, CDKN2B-AS1, EDNRA, COMT, CX3CR1, RAPGEF5, ROS1, RARRES2, MOK, GPT, SIRT6, HSD11B1, PNPLA3, MIR155, S100A9, S100A12, ANPEP, AGTR2, ANGPTL4, LIPG, GIP, CD40LG, CTSS, F5, HFE, IMPACT, ATM, HIF1A, CXCL8, SCARB1, MIR146A, GNB3, CYP19A1, ADA, PDE5A, THBD, TXN, ANGPTL2, LOX, CHGA, PPIA, ATP6AP2, CP, PLA2G1B, SAA2, UCP2, UMOD, S100A8, SCN5A, SLC33A1, CXCR4, SLC6A4, MTTP, WASF1, UGT1A1, SELENOS, CXCR6, ABCG1, CLOCK, NOS1, MMP1, RMC1, PROS1, THBS1, MMP8, PTGS1, LEPR, NPPC, PTPN1, MMP12, TNFSF11, NTS, KDR, VKORC1, KCNQ1, PPIG, SOD1, PLA2G6, KLF2, STAT3, ANGPT1, ADRA2B, CIMT, FABP3, CD34, MIR126, G6PD, MIR210, AHR, CAV1, NQO1, FBN1, GSTK1, C20orf181, KIF6, CCR5, CFH, SLCO6A1, BTF3P11, MIR499A, CDKN2B, ELANE, ENG, EPO, KLK3, ARSA, HLA-DRB1, HSPD1, FSHMD1A, SOD3, SOD2, COL4A2, SSTR4, TM7SF2, MIR221, TH, MIR34A, MFAP1, FSD1L, FSD1, ACCS, USF1, CAT, CASP1, MAS1, CA2, PLA2G10, BRS3, BRCA2, MIR145, ACKR3, FOXO3, FABP2, PAPPA, SERPINF1, C1QTNF9, DHX40, PLAG1, AGXT2, P2RY12, PPARD, F7, NPR3, F11, MAPK1, NPPA, MAPK3, SHMT1, CYP7A1, CXCL16, NOS2, TRIB3, PTGIS, RAPSN, CTH, CRYGD, GJA1, CCL5, APOM, SELENOP, ACSS2, BRCA1, TYRP1, PSAT1, GPR42, TMEM54, LPAR2, PARP1, POLDIP2, ADRA1A, APRT, NPEPPS, LBP, IRS1, TBPL1, WASF2, PADI4, IL17A, ALOX5AP, KCNH2, CACUL1, ABCC6, PPARGC1A, PLA2G15, HPGDS, F2RL3, TNFRSF11A, DNER, ITGB3, HSPB2, NR1I2, HSPB1, CAPN10, ABCB6, HSPB3, GPER1, B2M, CYP2J2, RFC1, ROCK1, PART1, NAMPT, RENBP, CYBB, MIR122, CTSK, GDF11, AMPD1, TRIB1, SLC35A1, MALAT1, DDAH2, PDE4A, FSTL1, PGF, ABCB1, MMRN1, CST12P, ADD1, PLAT, DUSP1, PLTP, ADH1C, POMC, ADRB3, AHSA1, PRKAA1, CBSL, PEAR1, ABCG5, AKR1B1, NOD1, BRD4, S100A1, CPB2, MAPK14, TP53, MIR22, NOX1, TFPI, CCR2, MIR33A, IL32, IL1RL1, TLR2, TNFRSF1A, TNFRSF1B, IL23A, MIR208A, VCL, CALR, MGAM, CALCR, SLC25A20, AIMP2, GP6, C4B, TSPO, KLF15, GRAP2, FADS2, RNF19A, SI, MIR132, CRK, CRH, KEAP1, PDGFC, APOA4, TNFSF10, COX8A, MIR143, HTR2A, SLC2A1, ST2, SLC2A2, SLC2A4, GAL3ST1, ROCK2, CNR1, SLC17A5, HAVCR1, CLU, NTN1, ARG1, SERPINA5, ANGPTL8, FABP1, INSRR, MSRA, GSTT1, CD180, FN1, EPRS1, FOXO1, FLAD1, BPIFB4, ADM2, PHACTR1, GLUL, FCGR3A, IGFBP3, HSPA5, ADIPOR2, IGFBP1, MMP7, LTA, SPX, IL4, FGG, MUSK, MME, HSPA1A, LCAT, FCGR3B, GOT2, MTR, HABP2, MEG3, WDR1, CNR2, NR1H4, DIANPH, SOAT1, GPR35, MRGPRX3, CUBN, LYPD4, APOA2, TRIM21, MTOR, APOC1, APOC2, LTC4S, ABCC9, SLC22A3, C3, CYP4F3, SLC2A9, HLA-B, INS, ANK2, CXCL5, DDAH1, ANXA1, SELPLG, NRG1, TUBB1, SFRP5, SFTPD, FZD4, COX1, FLNC, FLT1, SLC6A2, CHRNA5, CISD1, SLC6A8, MIR150, MRGPRX4, FMO3, HLP, MIR208B, APP, GHS, IL37, CD47, XPR1, CD44, MAP3K5, GDF2, CD38, GSTM1, CRISP2, TRAF1, HSP90B2P, RHOA, TTR, RNU1-1, MEFV, MEF2A, PDE3A, MDM2, SIRT7, GCH1, VASP, CD5L, ANKRD1, TNFSF12-TNFSF13, VN1R17P, GPR166P, ASIC3, BEST1, MET, CD69, MAOA, HDL3, MIR214, JAK3, TAC1, IL15, MIR222, MIR223, MIR28, TAT, PCSK7, HNF1A, MIR29A, OXER1, GPBAR1, TET2, GAS6, PTPN22, KMT2A, BAG3, CALCA, CDH13, GPX3, PXDN, KCNJ5, GATA4, HOPX, TREM1, HFM, CR1, LTA4H, IL11, IGF2BP2, HSPA4, PON3, IGF2, MRGPRX1, IRS2, PPBP, C1QL1, ETV3, PTPA, MLC1, PRKAA2, PRKAB1, NPR2, PRKCD, MIA3, BID, NOD2, NOTCH3, AOC3, DAPK3, LGR6, PROC, NEDD4L, CYP11B1, PSEN1, NOTCH1, FBLN1, ARSI, PER2, ADAM10, WNK1, LOC110806262, ENPP1, HTR2C, PDZK1, PECAM1, PAH, PF4, P2RX7, RIPK2, SERPINA1, EGR1, ACLY, PITX2, OGN, TNFSF12, RAPGEF4, PLA2G4A, EPOR, PLAU, DKK1, MYOCD, PINK1, IFNG, PLN, ERG, KCNIP3, HAMP, ARMS2, TRPV1, S100B, KLF14, KLF5, RLN2, CCN2, CTF1, MBL3P, DEGS1, POSTN, ALOX12, UCMA, NBN, FBLN5, CRYZ, BSG, IL6ST, MIRLET7G, MIR106A, RPS6KA1, RAPGEF3, PNPLA2, AKR1A1, FADS1, FGA, RGS2, GIPR, IL1RN, LPAR3, PTGIR, GRK3, HMGB1, GPR151, CYP3A4, GPRC6A, CYP2D6, LRP5, ZC3H12A, OGT, CYP2C9, SCD, CYP1B1, CYP1A2, SAT1, FGFR4, NGF, AKT1, ZNF385B, SETD2, NAAA, AGO2, MYLIP, BRD7, PPM1K, SLC27A6, MIR486-1, BTLA, PDCD4, PDLIM3, GGTLC5P, GGT2, SFTPA1, GGTLC3, NCF1, MAT2B, TOR2A, MIR652, CYTOR, SERP1, COA3, UCA1, REM1, MIR642A, MUC16, POTEF, TMEM43, PLB1, TARDBP, CAMTA1, SZT2, PPARGC1B, TP53COR1, PROKR2, TPSD1, TRS-AGA2-3, SFTPA2, FUNDC1, ACTRT1, HIF1A-AS1, MIR499B, TSPAN15, ARL2BP, APOA1-AS, PHLPP1, RBM45, ARL6IP1, LPIN1, ERICD, CNOT1, RN7SL263P, SIRT1-AS, SIRT2, ATF6, LOC107987479, GNPDA2, LOC110599569, CARD8, ADGRL1, TDGF1P6, TTC7B, NRG4, DAPK2, ATRNL1, TUBA3D, AKR1B1P3, TXNRD3, COMMD7, TIRAP, GGTLC4P, CYGB, FBXO8, PSS, OSBPL11, C1QTNF3, TES, CILP2, C1QTNF6, LRIG1, LINC01672, OMA1, SLC22A12, BEAN1, POU2F3, TXN2, PRDX5, SAMM50, GCA, CERNA1, ZNF318, MTCH2, SENP1, BRD7P3, AAA1, MIR483, MIR98, NPS, SLC44A2, LPAL2, SMYD2, MIR130B, PPP1R2C, PDGFD, MIR125A, PDXP, TBX20, MIRLET7C, C1QTNF12, ASRGL1, ARFGEF3, JPH3, AS3MT, AHRR, ZBTB12, SEMA6A, LINC01194, MIR139, SPIRE1, SPHK2, MIR142, ENAH, KDM3A, MIR17, CENPJ, MIR148A, ARID5B, USE1, SESN2, GPRC5C, MIR144, STOX1, APOL6, TBATA, ZEB1-AS1, MYDGF, COL18A1, CLDND1, JCAD, CHD8, CHD7, BTBD8, TAS2R50, BCL11B, IS1, ACD, TNFAIP8L2, HCAR2, GPIHBP1, BPIFA4P, KCTD1, SERPINA13P, UBE2Z, PAGR1, NOX5, KCTD15, SLC22A24, MAPKAP1, MBOAT7, NEAT1, NIBAN2, GORASP1, ECHDC3, NANOS3, STN1, TNRC6C, SPTBN4, IL27, PRM3, FNDC5, TRPV4, HEATR6, SLC27A1, ENHO, FRMD3, FBRS, AGBL2, HHIP, TICAM2, HCP5B, HSD17B13, ATF7IP, PLXNA3, UBIAD1, ANGPT4, MIR378A, UCN2, CRIM1, KLF3, CD320, TLR8, TNFRSF12A, KRT90P, MIR342, MIR99B, WNT16, MIR331, TRPV2, SYNPO2, PCYOX1, DCDC2, ADTRP, MIR17HG, HSPA14, INSIG2, ABHD5, ADIPOR1, DAB2IP, DSE, CERS2, CALML6, RHOD, VSX1, MIR451A, MIR429, BDNF-AS, IL22, MIR383, PAQR7, IRX4, FOXP3, MLXIPL, MIR382, TNNI3K, CNDP1, MIR99A, SLC35E3, PPP6R3, RLS1, MIR216A, RMST, ATG16L1, PRMT6, NADSYN1, SPRED2, NAT10, MIR200B, SCLY, MIR197, ZBTB7C, PRSS55, MGLL, MIR188, MIR185, KIAA1109, GPRC5D, TRPM7, DYM, TRPM4, MARCHF5, MED15, LSR, GHRL, PTCRA, MIR96, SPZ1, ARID4B, ZGPAT, INPP5K, IL17D, TPCN1, FAM3B, HHIPL1, MIR30C2, UGT1A6, MIR30C1, MIR29C, COG2, A2M, NRM, GCLC, GRIA1, FFAR2, GPR15, UTS2R, CXCR3, GP5, GJA5, CXCL2, GJA4, GGT1, GDF10, MSTN, GCK, GC, GRN, GSN, EDNRB, HLA-DQA1, HSD11B2, HRH1, HPD, HOXD13, HNRNPA1, HNF4A, HLA-DMA, HBA1, HLA-C, HDLBP, HDAC2, HTT, HCRTR2, HCRT, GAP43, GALR1, GAD1, ETV2, FAAH, F13A1, F12, F9, F8, F2RL1, FBL, ACKR1, ERCC3, EPHX1, EPHA1, SLC29A1, EGFR, EFNB2, FANCD2, FAT1, FCGR2A, FDFT1, FDXR, FER, FGF2, FHL1, FHL2, VEGFD, FOXC2, FOXM1, FLNB, FLT3LG, FOLH1, FOS, FOSB, HSF1, HSF4, HSPA1B, MC3R, MFAP4, MEN1, MAP3K3, MEIS1, DNAJB9, ADAM11, MBP, LRP1, MB, MAT1A, MAPT, MAP4, EPCAM, LRPAP1, MIF, FOXO4, MMP3, MMP11, MMP13, MMP14, MPI, MPZ, MRC1, MSR1, MST1, MT1A, MT1B, CYTB, ND5, RNR2, MTRR, LRP6, LOXL1, HSPA2, IL5, ITGB4, ITGB2, IRF6, IRF5, CXCL10, TNFRSF9, IL4R, LNPEP, IL1R1, IGFBP4, IGFBP2, IGFALS, IDH2, IDE, ITPA, JAK2, JUN, JUNB, JUND, KCNE1, KCNJ11, KCNMA1, KCNN4, KLKB1, KRT7, LGALS1, LGALS2, LGALS3BP, LIPA, LIPE, LMNA, EEF1A1, EDN2, TRNL2, ATP4A, CCND1, BCHE, BBS4, BBS1, ATP5PF, ALDH7A1, ATP12A, BCL2L1, ATHS, ATF3, ARSD, ARNTL, ARG2, AR, BCL2A1, BCL3, LPAR1, BMPR1A, CAV3, CASR, CAPN1, CAMP, CAPN5, SERPING1, BMP2, TNFRSF17, BHMT, CEACAM1, BGN, CFB, BDKRB2, BCR, AQP7, AQP4, AQP1, ACYP2, AKT2, NR0B1, AGRP, ACAN, ADRA2A, ADAM8, ACVRL1, APOH, ACP1, ACHE, ACAT1, ABL1, ABCA2, AAVS1, ALCAM, ALDH9A1, ALOX15, ALPL, ALPP, AMBP, AMCN, AMD1, AMD1P2, AMH, ANG, ANXA5, ANXA7, AOC2, APCS, APEX1, BIRC3, RUNX1, RUNX3, SERPINH1, NKX2-5, CYP2B6, CYP1A1, CTSL, CTSD, CTRL, CTNNB1, CSTB, CREM, VCAN, CSN3, CSN2, CSF3, CSF1, CRY1, CYP2C18, CYP3A5, CYP27A1, DACH1, DCN, DDT, DES, DHCR7, DMBT1, DMD, TRDMT1, DNMT3A, DRD4, TSC22D3, HBEGF, ECE1, TYMP, CRMP1, CPOX, CD6, CDK8, CENPC, CEBPD, CEBPB, CEBPA, CEACAM5, CDK9, CDC42, CORT, CDC25C, CD74, CD40, CD86, CD28, CD19, CES1, CETN1, CGA, CHGB, CHM, CISH, CLCN3, CLCN7, LTB4R, CMM, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, KLF6, TRNL1, MUC1, PACSIN2, MBTPS1, TMEM11, IQGAP1, IL18R1, IL18RAP, CREG1, TNFRSF10B, TNFRSF25, GGH, GALNT4, BECN1, VAMP8, SOCS1, TP63, DENR, SOCS2, CCN6, TNFAIP6, ARTN, DCLK1, OSMR, HGS, ARHGEF1, ANGPTL1, AIP, CCRL2, HDAC3, KALRN, TIMELESS, AP1G2, SPHK1, VNN1, ALKBH1, CYP4F2, RGS5, SOAT2, VDAC1, YWHAZ, XDH, WNT5A, NSD2, VTN, VHL, UTRN, NR0B2, UCP1, UCN, TYMS, TXNRD1, TNFSF4, TRPC1, LRP8, BSND, LEPQTL1, LAG5, TFEB, TFPI2, ARHGEF5, FOSL1, AAAS, HMGA2, AKAP1, TAM, ESS2, KDM5D, DYSF, ACOX2, BRAP, MSC, GPR55, CD163, PROCR, GJB6, NES, TRAF3IP2, OGA, CORIN, TXNIP, CIB1, FSTL3, STK25, FST, PPIH, IFI30, SPON2, APBB3, CCL27, HPSE, PROKR1, GADD45G, COPS8, PRDX3, GPR75, STIP1, KCNQ1OT1, KLK11, ESM1, WDR5, ADAMTS5, WDHD1, SLC2A6, NISCH, WIF1, EFS, SPRY2, SLIT2, H6PD, ELMO1, PCLAF, RIPOR2, NOS1AP, PPP6R2, NUP155, GMFG, SPRY1, ADAMTS1, CHST3, MAP4K4, AIM2, MED23, COX5A, MAGI2, RNF10, MFN2, SLC23A2, SCO2, NAALAD2, SRA1, PDCD6IP, SLC17A4, DNM1L, PTPRU, GPC6, PPIF, LRPPRC, G3BP1, ABI2, PRG4, TRAF6, TLR1, MYH7, PRKD1, EIF2AK2, MAPK10, MAPK9, MAPK8, MAPK7, PRKG1, PRKCA, MASP1, PRKAR2A, PRKAR1A, PREP, PPID, PODXL, SEPTIN4, PRL, RELN, TIMP4, RAC1, RNASE3, RNASE1, RIEG2, RELA, RASGRF1, RARA, PTPN11, HTRA1, PTGER3, PTGER2, PTGDS, TAS2R38, PTAFR, PSMA6, PMP22, PMM2, PLK1, NOTCH4, OPA1, OGG1, NR4A2, NUCB2, NT5E, NPY1R, NNMT, PLIN1, NME1, NM, NFKB1, NF1, MYOD1, MYLK, OPRK1, SLC22A18, OSM, OXA1L, PAEP, SERPINB2, PC, PCBP1, PDE4D, PDGFB, ENPP3, PDR, PEPD, SLC25A3, PIN1, PIP, PLAUR, BRD2, RNU1-4, ROBO1, STAT4, ADAM17, SYT1, ABCC8, SULT1A1, STK11, SULT1E1, SERPINA3, SMS, STAT2, ST13, SSB, SRM, SOS1, SORL1, TACR1, TAGLN, TAL1, TBXAS1, TRA, TERC, TERF1, TERT, TFR2, TFRC, TGFBR1, TGFBR2, THBS2, THBS4, THPO, TIAM1, TIMP1, SNAP25, SMPD1, RPE, SCN2A, CCL20, CCL7, CCL3, SCT, SCN10A, SCN8A, ACSM3, SMO, SAG, RYR3, RYR2, RYR1, RPS20, RPS6KB1, CCL21, CCL22, CCL23, SFRP1, SHC1, SLC1A5, SLC5A1, SLC6A7, SLC8A1, SLC9A1, SLC10A1, SLC12A3, SLC19A1, SLC20A2, SLC22A2, SLPI, SMARCA4, LOC113664106
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Tumor-Like Disorders Of The Lung Pleura
Wikipedia
Additionally, chest/scapular pain and/or evidence of endometriosis in the abdominopelvic cavity are other manifestations. [8] Diagnosis [ edit ] On radiological studies, pneumothorax is visualized using conventional chest x-rays and CT scans. In 90% of the cases, the pneumothorax is located on the right side. ... “Catamenial Pneumothorax.” N Engl J Med (2006); 355:e9 ^ a b c d Haus, Brian et al. “Pseudotumor/Vanishing Tumor of the Lung.”Learning Radiology. 2005. < http://www.learningradiology.com/archives05/COW%20159-Pseudotumor/pseudotumorcorrect.htm > ^ Miles, Susan et al.
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Penile Torsion
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2017 ) Penile torsion is a fairly common congenital condition with male infants. It occurs up to about 1 in 80 newborn males. With this condition, the penis appears rotated on its axis, almost always to the left ( counterclockwise ). [1] See also [ edit ] Chordee References [ edit ] ^ Eroglu, Egemen; Gundogdu, Gokhan (2015-01-01). ... Urology 2007 Feb;69(2):369-71. Bauer R, Kogan BA. Modern technique for penile torsion repair. J Urol. 2009 Jul;182(1):286-90 Snow BW. Penile torsion correction by diagonal corporal plication sutures. ... Annals of Pediatric Surgery 2010 Apr; 6(2)93-97. Wilcox D, Godbole P, Cooper C.Pediatric Urology Book External links [ edit ] Penile torsion image
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Coxsackievirus B3 Susceptibility
Omim
From study of somatic cell hybrids, Gerald and Bruns (1978) suggested that susceptibility to coxsackievirus B3 is determined by a locus on chromosome 19 (as is also susceptibility to poliovirus, 173850; Echo 11 virus, 129150; and baboon virus, 109190).
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Gilbert's Syndrome
Wikipedia
Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dl) [31] compared to the normal amount of < 20 μM. ... "UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer" . Br J Cancer . 91 (4): 678–82. doi : 10.1038/sj.bjc.6602042 . ... "Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study" . Circulation . 114 (14): 1476–81. doi : 10.1161/CIRCULATIONAHA.106.633206 . ... PMID 11019988 . ^ a b Bosma PJ; Chowdhury JR; Bakker C; Gantla S; de Boer A; Oostra BA; Lindhout D; Tytgat GN; Jansen PL; Oude Elferink RP; et al. (1995). ... "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome". Lancet . 347 (9001): 578–81. doi : 10.1016/S0140-6736(96)91273-8 .
- Familial Eosinophilia Wikipedia
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Behcet Syndrome
Omim
Okunuki et al. (2007) used proteomic techniques to compare retinal autoantigens recognized by sera from BD patients with uveitis or healthy donors. Six protein spots showing high reactivity with the serum from the BD patients were detected as candidate retinal autoantigens, and 3 of them were identified by mass spectrometry. ... Behcet disease is most frequent in Turkey and Japan. HLA-B5 (see 142830) has been found to predominate in cases. ... Of the 505 patients from whom the age of attaining criteria could be ascertained, 106 showed definitive BD before the age of 16 years and were considered pediatric patients with BD; the other 399 were classified as nonpediatric patients. ... In genotypic differentiation between patients and controls, the authors found that only HLA-B51 was significantly associated with BD in all 3 populations. These results suggested that the pathogenic gene of BD is HLA-B51 itself and not other genes located in the vicinity of HLA-B.ERAP1, IL10, HLA-B, STAT4, KLRC4, CCR1, MEFV, IL12A-AS1, IL23R, PSORS1C1, CXCL8, TLR4, ICAM1, UBAC2, FAS, IL12A, ITGB2, ITGAL, AHR, SERPINE1, C4A, APOA1, APOB, CAT, MICA, NOD2, TNFRSF1A, PSTPIP1, CCR3, MICB, KLRC4-KLRK1, ADA2, CCHCR1, CDSN, HLA-DRB9, TFCP2L1, HLA-C, NOS3, IL1A, F5, TNF, HLA-A, IL12RB2, IL17A, IL6, WWC1, IFNG, IL19, F2, IL1B, TNFAIP3, IL2, CTLA4, MTHFR, CCR5, KIR3DL1, TLR2, CCL2, IL23A, HLA-DRB1, VEGFA, IL18, VDR, IL37, GEM, MMP9, IL4, ACE, CRP, IL12B, IL1RN, HSPD1, IL33, STAT3, NLRP3, MIR146A, CD40, LEP, PTPN22, JAK1, MBL2, ENO1, BCL2, KIR3DL2, SUMO4, NFKB1, MIR155, IL9, ITGAX, HSPA14, GATA3, KIDINS220, IRF8, CXCR2, GSTM1, HLA-G, KIR2DS1, HLA-DQA1, TLR7, ABCB1, IL17F, FCGR3A, LTA, CD28, QPCT, UBASH3B, CSF2, ATG5, ADIPOQ, SELL, SLC11A1, SOCS1, SOAT1, USO1, TAP2, IKBKG, TAP1, PIEZO1, TG, TGFB1, TGFBR1, TGFBR3, THBD, TNFRSF1B, TNFSF4, PTPN2, KIR3DS1, NOD1, MVK, LAMP1, JAK2, MIF, MKI67, SEC14L2, ITGAM, IL1R1, IL22, CXCL10, CPQ, NFKBIA, IL15RA, IL15, NM, NOS2, TBC1D9, KRAS, NXF1, MPO, NAT2, IFNA13, GSTT1, MIB1, GAS6, ERAP2, FLNB, FCN2, ETS1, TSLP, CYP2C9, CYP2C19, TIRAP, FCRL3, CPB2, RBM45, IFNA2, CEBPB, MIR21, CCDC180, ANXA2, ANXA1, CXCR3, CCR7, IFNA1, IL26, HLA-DPB1, CPVL, HNRNPA2B1, HLA-E, TLR9, LINC01193, TNFSF12, CDK5R1, PROZ, IL32, GADL1, TIMELESS, SOCS3, ARMH1, CTDP1, SCAF11, ARHGEF2, XPR1, MBL3P, CD83, ENHO, SLC9A3R2, YIPF7, PPIG, IFNL2, AIM2, DAOA, ROCK2, GAL3ST1, CCL4L2, NAALADL2, IL27, ZEB2, WDR1, LRPPRC, TNFSF13, TP63, CCL4L1, IL17D, HNRNPA1P10, WNT3, VWF, POTEF, DEFB4B, CNTN5, LINC-ROR, LANCL1, VTN, VIP, VEGFB, UPK3B, CST12P, H3P13, YWHAE, DEFA1A3, MIR146B, DEFB104B, WG, ARHGEF5, TAM, MIR326, PLA2G6, TNFSF12-TNFSF13, MIR301A, MIR23A, TLR8, GEMIN2, MIR185, PIAS1, MIR182, RABEPK, HT, TNIP1, CD274, PANX1, ATG10, NDEL1, POU2F3, PDCD1LG2, HAVCR1, RNF39, ARMC9, DISC1, IL17B, PDCD4, PYCARD, NEIL1, VKORC1, FOXP3, CASP14, PADI1, PDIA2, CLEC7A, TET2, CASZ1, PRPF40A, BACH2, NCOA5, TBX21, SEMA6A, TRIM39, AICDA, CD209, IL20, KIAA1109, TUBA1C, ASXL1, KLRK1, RETN, ANP32B, PROCR, SLC35A1, CXCL13, TNFSF13B, DEFB104A, TRAF3IP2, CPLX1, UTS2, PRSS21, TYMS, EBNA1BP2, NLRP1, CYCS, HAVCR2, KIR3DL3, TNFRSF13C, CLEC16A, TREM1, KRT20, CDCA5, DICER1, INTS4, SIRT1, IRAK4, SF3B1, ZNF804A, PADI4, ADO, VCAM1, PSMD7, TYK2, ELANE, FLNA, FOXO1, FCGR3B, FCGR2A, F10, F9, ETFB, ESR1, EREG, EGF, FUT2, DHCR7, DEFB4A, DEFB1, DEFA1, CYP27B1, CYP24A1, CYP2B6, CYP1A1, CX3CR1, FSHMD1A, GATM, TXK, HLA-DQB1, IL2RA, IFI16, HTR2C, HSPA6, HSPA4, HNRNPA1, HMOX1, HMGB1, HLA-F, NRG1, GCHFR, HFE, HBB, H2AX, GZMB, CXCL1, GRIA2, GP2, GLI3, GLB1, CTSG, CCN2, CSF3, FASLG, C3AR1, BTK, BLK, AVP, ATP4A, ATP12A, ATF3, ARSA, AREG, APOH, CSF1, APOE, ANXA5, AMH, ALB, AKT1, AIF1, ADARB1, ADA, ACTB, C4BPA, C4BPB, CA4, CALR, CR2, CORT, CCR6, CCR4, CISH, CEBPD, CDKN2D, CDKN2A, CD69, CD40LG, MS4A1, CD14, RUNX1, CASP9, CASP8, CASP3, CASP1, CAPS, CAMP, IL2RB, IL4R, IL6ST, SAG, CXCL5, CXCL6, CCL20, CCL13, CCL11, CCL5, CCL4, CCL3, SAT1, SAA1, EIF2AK2, RORC, ROCK1, REG1A, REL, ACLY, PSMB8, PRTN3, PROS1, PROC, CX3CL1, SELE, SELPLG, SLC6A4, HSP90B2P, TRAF5, TPI1, TP53, TLR1, TIMP2, TGM2, TEP1, TRG, TRD, TRBV20OR9-2, TRIM21, SPP1, SPG7, SOD2, SOD1, SLC22A5, SLC22A4, SLC25A1, PRL, MAPK3, CXCR1, KLRD1, MAFD2, LYZ, LIMK2, LIG4, LGALS3, LBR, STMN1, RPSA, LAMC2, KLRC2, MAPK1, KLRC1, KIR2DL4, ITGB3, ITGA2, IRF5, IRF1, IRAK1, IL12RB1, IL11, MCAM, CIITA, MMP2, MMP12, PRKCQ, PON1, POMC, PLA2G2A, PLA2G1B, SERPINA1, PF4, PDGFRL, PDCD1, PAPPA, PAFAH1B1, P4HB, ORM2, NTRK1, NGF, NEFM, NDUFB2, MRC1, MNAT1, H3P28
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Endometriosis
Wikipedia
Laparoscopy , a surgical procedure where a camera is used to look inside the abdominal cavity, is the only way to accurately diagnose the extent and severity of pelvic/abdominal endometriosis. [85] Laparoscopy is not an applicable test for extrapelvic sites such as umbilicus, hernia sacs, abdominal wall, lung, or kidneys. [85] Reviews in 2019 and 2020 concluded that 1) with advances in imaging, endometriosis diagnosis should no longer be considered synonymous with immediate laparoscopy for diagnosis, and 2) endometriosis should be classified a syndrome that requires confirmation of visible lesions seen at laparoscopy in addition to characteristic symptoms. [86] [87] Laparoscopy permits lesion visualization unless the lesion is visible externally (e.g., an endometriotic nodule in the vagina) or is extra-abdominal. [85] If the growths (lesions) are not visible, a biopsy must be taken to determine the diagnosis. [82] Surgery for diagnoses also allows for surgical treatment of endometriosis at the same time. During a laparoscopic procedure lesions can appear dark blue, powder-burn black, red, white, yellow, brown or non-pigmented. Lesions vary in size. [88] Some within the pelvis walls may not be visible, as normal-appearing peritoneum of infertile women reveals endometriosis on biopsy in 6–13% of cases. [89] Early endometriosis typically occurs on the surfaces of organs in the pelvic and intra-abdominal areas. [88] Health care providers may call areas of endometriosis by different names, such as implants, lesions, or nodules. Larger lesions may be seen within the ovaries as endometriomas or "chocolate cysts", "chocolate" because they contain a thick brownish fluid, mostly old blood. [88] Frequently during diagnostic laparoscopy , no lesions are found in individuals with chronic pelvic pain, a symptom common to other disorders including adenomyosis , pelvic adhesions, pelvic inflammatory disease , congenital anomalies of the reproductive tract , and ovarian or tubal masses. [90] Ultrasound [ edit ] The use of pelvic ultrasound may identify large endometriotic cysts (called endometriomas ). However, smaller endometriosis implants cannot be visualized with ultrasound technique. [91] Vaginal ultrasound has a clinical value in the diagnosis of endometrioma and before operating for deep endometriosis. [92] This applies to the identification of the spread of disease in individuals with well-established clinical suspicion of endometriosis. [92] Vaginal ultrasound is inexpensive, easily accessible, has no contraindications and requires no preparation. [92] Healthcare professionals conducting ultrasound examinations need to be experienced. [92] By extending the ultrasound assessment into the posterior and anterior pelvic compartments the sonographer is able to evaluate structural mobility and look for deep infiltrating endometriotic nodules noting the size, location and distance from the anus if applicable. [93] An improvement in sonographic detection of deep infiltrating endometriosis will not only reduce the number of diagnostic laparoscopies, it will guide management and enhance quality of life. [93] Magnetic resonance imaging [ edit ] Use of MRI is another method to detect lesions in a non-invasive manner. [85] MRI is not widely used due to its cost and limited availability, however, it has the ability to detect the most common form of endometriosis (endometrioma) with a sufficient accuracy. [85] It is recommended for the patient to receive an anti-spasmodic agent (hyoscine butylbromide for exemple), a big glass of water (if bladder is empty), to undergo MRI scanning in supine position and applying abdominal strap for having a better image quality from the MRI. [94] Phased coil arrays are also recommended. [94] Sequences [ edit ] See also: MRI sequence T1W with and without suppression of fat is recommended for endometriomas; meanwhile, sagittal, axial and oblique 2D T2W are recommended for deep infiltrating endometriosis. [94] Staging [ edit ] Surgically, endometriosis can be staged I–IV by the revised classification of the American Society of Reproductive Medicine from 1997. [95] The process is a complex point system that assesses lesions and adhesions in the pelvic organs, but it is important to note staging assesses physical disease only, not the level of pain or infertility. ... In principle the various stages show these findings: [96] Stage I (Minimal) Findings restricted to only superficial lesions and possibly a few filmy adhesions .KRAS, CYP19A1, PGR, IL10, PTGS2, HDAC2, CCL11, GREB1, CDKN2B-AS1, ESR2, NR5A1, HSD17B1, IGF1, EGFR, HSD17B2, PRL, IGFBP1, IL15, SST, IL1R1, MIR21, AKR1C3, ARNT, TGFB2, PTGER4, IDO1, KLF9, FOS, PAPPA, NR3C1, NCOA1, ABCC4, NR2F2, NR4A1, RXFP1, LTF, TAGLN, KLF13, PLA2G2A, CXCL9, MTA1, MTA2, DICER1, ENPP1, CXCL14, NR3C2, ACTA2, TXNIP, PAX2, CXCL13, OLFM4, AKR1B1, TNC, HDAC1, ITGB1, HLA-DPB1, AKR1C1, AKR1C2, CCL1, RASGRP1, RGS4, CNR1, SLC16A6, CCNE2, NR2C2, MED14, NR2C1, PLXNC1, COPS2, MED17, SRD5A1, TOB1, TNF, NCOR1, CYP26A1, HS3ST3B1, NR1D2, MED16, DDX5, ABCC9, UST, RORB, CD55, SLC1A1, THRA, SRD5A2, TRH, NR2F6, PTGER2, CYB5A, FBLN1, FBN1, VEGFA, PRLR, HBEGF, VCAN, MED1, RARB, FKBP5, SPARCL1, DIO2, STC2, CFD, DUSP1, CCL22, FMO2, SUCLG2, NRP1, CPM, SELENOP, CLDN1, PTGFR, ELAVL1, MYLIP, ANKRD1, MED4, ITGA2, FAM180A, RASL11A, IL7R, SLC40A1, HERC5, CNIH3, BMP7, IMPA2, ERRFI1, MAOA, NTRK3, TACSTD2, SULF2, ANKH, AREG, ANO4, LAMB1, NDNF, ARHGAP28, LRRK2, DCSTAMP, OSR2, SCGB3A1, MAOB, ITGB8, SLC7A8, SMPDL3A, DKK1, BRD8, NCOA6, CD226, MMP2, C1R, NEDD4L, MMP9, IFNGR1, IGFBP6, ITGB3BP, DEPP1, LMOD1, METTL7A, GPX3, ABI3BP, SLC20A1, IFIT1, RBPJ, NEFM, IHH, CCL5, BCL2, KDR, SERPINF1, BIRC5, EGR1, HDAC3, RUNX1, LYN, VAV1, ESR1, BAX, WNT4, SELL, NFKBIA, BCL2L1, VEZT, BSG, FN1, CDC42, IL33, IGF1R, CCDC170, SYNE1, MAP3K4, PIK3CB, MME, PDE1C, GRIN2D, PIK3CA, IL1A, MEIS1, ICAM1, IL1B, PIK3CD, INHBA, IL6, PIK3CG, CXCL8, GSTM1, GSTT1, CCL2, HOXA10, MAPK1, PTEN, COX2, CYP17A1, COMT, CTNNB1, OR9Q1, LAMC3, CYP2B6, COL12A1, CYP1A1, RFLNA, SKAP1, ARID1A, CDC73, BEND5, CALHM3, MUC16, FOXP2, AGBL4, NAALADL2, CYP21A2, TP53, AKT1, CACNA1A, MTCO2P12, ARID3B, SYNJ2, LINC00861, C2, FGD6, TGFB1, CAPN14, GPNMB, THOC6, HSD17B7, HGF, ARTN, HIF1A, PPP1R2C, CXCR4, SERPINE1, AGRP, MIF, CXCL12, BDNF, CDH1, GALT, GSTM2, BRD2, STAT3, IFNG, MIR451A, IL1R2, BECN1, FSHR, EPHB2, HPGDS, IL4, MALAT1, TLR4, HP, PAEP, AMH, MAPK3, MMP1, STS, LEP, GSTP1, IL18, IL37, GPER1, MMP3, CD44, TAC1, FGF2, CYP2C19, KLF11, PPARG, HLA-DRB1, FCRL3, ANGPT2, VDR, HOXA11, VCAM1, UCN, CRK, RAF1, TNFRSF1B, MIRLET7B, S100A6, IL1RN, TIMP1, MIR145, MIR20A, MAPK14, AIMP2, CRH, NOTCH1, EGF, RNF19A, POLDIP2, PTPN22, AHSA1, CCR1, FOXP3, NOS3, SPP1, GRAP2, CDKN1B, POU5F1, SULT1E1, DHRS11, HNF1B, POU5F1P4, POU5F1P3, TERT, THBS1, MIR210, KLRK1, MIR17, MMP7, PLAU, MRC1, SLCO6A1, XRCC1, TIMP2, GSTK1, HSD17B13, PTGES, AHRR, IL13, FST, IL16, IL17A, NGF, HPSE, OGG1, MUC1, NAT2, BRCA2, GNRHR, CSF1, EZH2, CDKN2A, CRP, HLA-G, BRAF, BRCA1, HMGB1, DRD2, GC, AGTR1, NME1, AHR, SIRT1, GATA6, TNFRSF11B, PCNA, NFKB1, H3P10, GHRH, MPO, MTOR, MMP14, MIR126, CRHR1, MIR141, CREB1, MDK, SMAD3, LGALS3, LEPR, FSHB, CCN2, PGF, FOXO1, TACR1, CCND1, VPS11, STAR, ATM, ACKR3, SOD2, AR, TNFRSF1A, CCL25, ACE, FASLG, TWIST1, RNASE3, REN, CYP1B1, CTLA4, EZR, F3, MAPK8, ANXA1, PPARA, FGFR2, CCR9, PLG, CD36, ZEB1, ISG20, ITGAV, POSTN, ACTB, IL1RAP, CXCL10, KLRC4-KLRK1, CCN1, CD68, CFL1, CIB1, YAP1, ITGAM, SEMA6A, CSF2, HMGA1, ENPP3, CAPN7, CCR2, LINC00261, EMX2, SLC2A4, SKP2, FPR2, HMGA2, CKS1BP7, FPR1, FLT1, TIMP3, DNMT3A, HSD11B2, LINC00339, OPRM1, TCF21, P2RX3, THY1, NUP62, RELA, SLIT3, NTF4, SERPINB2, PAK1, CSF3, NTRK2, RMDN2, IL23A, IL7, FKBP4, FOXM1, PROK1, CDKN1A, DCTN4, APEX1, IL2RA, WNT7A, RMDN1, MANEA, PDCD4, CXCL5, IL2RB, VIM, EPO, TSLP, VEGFC, HSH2D, CCL21, HSPA4, MAP2K7, SRA1, CSF1R, ANXA2, MIR342, SEMA3C, TLR2, HOXA13, PAX8, ANG, PON1, CEBPA, C3, FGF1, ANGPT1, RB1, RNU1-1, USF2, ENO1, XRCC4, FGA, SOD1, PPIG, EMSLR, LTA, ERBB2, CD274, GTF2H1, SQSTM1, SMAD2, CDH3, MIR200C, STC1, ZHX2, NR1I2, STAT6, RNU1-4, MIR191, KIR2DS5, MIR183, CCNE1, IL22, USP10, LPA, AIF1, SYBU, ADIPOQ, RMDN3, S100B, PPARGC1A, CCR5, CKS1B, IL32, COL18A1, MIR31, FAS, ERVW-1, LHCGR, LIF, DUSP2, MIR29C, MS4A1, STIP1, KIR2DS1, CDK6, TNFSF10, LGR5, SOX9, MUC2, MUC4, AGT, SOX2, NCAM1, GH1, AGTR2, ACP1, ITGB3, IGFBP3, AHSG, NOS1, NOS2, MIR33B, CXCR2, MST1R, MST1, BCL6, MSI1, MIR143, MLH1, SSTR1, CXCR3, CXCR1, RETN, KHDRBS1, GLI1, ABCB6, DNMT3B, CRHR2, LINC02210-CRHR1, SRC, CD47, KRT20, GJA1, MSH2, MBL3P, BMP4, TMED7, HSPA14, SLC52A1, PAK4, CDC6, BNC2, RBFOX1, UGT1A1, DLL4, NOD1, ROBO4, RHOF, UGT2B28, TREM2, IL17D, BMPR1B, VTA1, NRN1, NDRG1, BRS3, CHD5, TBX21, SERPINH1, NUP210, PLCB1, CTCF, CXCR6, ASTN2, CD40LG, PDLIM5, DNMT3L, RUNX3, CAT, CD48, CASR, CASP3, HEY1, PLXND1, CCNB1, KIFAP3, CD14, PHB2, ENTPD1, SCN11A, GALNT6, AKAP13, NUDT6, CD19, UTS2, CD86, MMP24, DCTN6, LILRB1, TNFSF13B, SRRM2, CD74, AGR2, FOXP1, TMOD3, BTF3P11, MYL9, BTG1, REM1, CCDC22, BTK, CDK1, CD79A, RBMS3, TNFRSF21, TSPO, INTU, CACYBP, SERPING1, FAM215A, CARM1, FOXD3, GREM1, C5, ZNRD2, NECTIN3, C9, CA2, CALCA, CALD1, FJX1, CADM1, SH3BP4, DAPK2, LPAR3, CRISPLD2, ATAD3A, MIR205, MIR181C, MIR182, MIR195, MIR196A2, PARP1, MIR200A, MIR200B, MIR204, ADM, MIR33A, ADAR, MIR214, MIR216A, MIR22, MIR23B, MIR27B, MIR30A, MIR30C1, ADRA1A, MIR154, MIR148A, ADRA2B, IL27, CADM2, ALB, NCR3, CPP, TICAM2, USP17L2, TBPL2, HES5, MIRLET7D, MIR100, MIR106A, MIR10B, MIR122, MIR132, MIR139, MIR142, MIR30C2, MIR34A, VPS53, MIR3613, RGPD2, ACTN4, MIR543, MR1P1, DEFB4B, MIR1185-1, TMED7-TICAM2, MIR2861, LINC01541, MIR34B, LINC01672, MIR4634, PCAT1, PGR-AS1, LOC110386951, LOC110806263, LINC02605, H3P23, MIR629, MIR449B, MIR542, ACTN1, CCDC144NL-AS1, ADA, MIR135B, MIR370, MIR196B, MIR375, MIR378A, MIR381, H4C15, MIR363, ACVR2B, MIR488, MIR146B, MIR520G, MIR503, MIR483, ACVR1B, HOXA11-AS, ALOX15, TET3, STN1, RHOC, ARG1, ULBP3, NAA16, AQP9, AQP5, AQP2, NANOG, AQP1, ARX, RNF34, SPHKAP, TET1, ULBP2, SLC38A1, NECTIN4, CAB39L, MAP1LC3B, WNK1, GORASP1, ATG3, DCLRE1C, QRSL1, B2M, ST6GALNAC1, TRERF1, AXL, MYDGF, LTB4R2, PNO1, SALL4, ARSD, CXCL16, IL21, RHOG, AFAP1, SLC22A23, SRR, SMOC2, TMPRSS13, MAGT1, NLRC5, ANK1, H4-16, RBM45, SGPP2, CD200R1, ZFP42, AMHR2, DOCK11, MUC17, SIRPA, ALPP, IL34, ALPI, PDIK1L, GPBAR1, CCDC80, TTC39B, ZNF366, CYP2R1, ANTXR2, LOXL4, CTHRC1, CARD11, MAK16, KISS1R, AFAP1-AS1, APOE, GFM1, WNT3A, LMLN, UCN2, APOA2, CREB3L1, BIRC3, IGSF8, BIRC2, SFXN1, PRRT2, UCN3, LILRB2, IFNA13, EIF1, PDGFA, P2RX5, P2RY6, GATA3, GATA2, GALNT3, GABPA, PDCD1, NR5A2, PDGFRA, POLD1, PDGFRB, PF4, PF4V1, PHB, SERPINA1, FOXO3, PLCB4, PLK1, OXTR, CLDN11, GATM, NTF3, CD200, MSMB, GHRHR, MYB, MYC, NFE2L2, GDNF, MSTN, NGFR, NHS, NINJ1, GBA, NOTCH4, NPTX2, NRAS, YBX1, NT5E, PNN, POLE, MMP13, RBP1, PTPRC, PTPRD, PVR, NECTIN1, EXTL3, RARRES1, RARRES2, RASA1, ETS1, FGF9, ACACA, ROCK1, ESRRB, ROS1, RXRA, S100A1, S100A4, ERCC6, PTN, F2, F2R, F2RL1, PPP2R1A, PPP5C, PPT1, PRELP, PRKCA, PRKCB, FEN1, MAP2K1, FCGR3B, FCGR3A, HTRA1, PSEN1, PSMD2, PSMD9, PSMD10, PTBP1, FANCD2, MNAT1, MMP12, TSHZ1, JUN, HNF4A, FOXA2, INHA, INSR, EIF3E, ITGA5, HLA-DQB1, JAK1, CD82, KLRC1, KCNQ1, KCNQ2, HLA-C, KIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL2, ILK, HOXB4, HPGD, HPRT1, IFNA1, IGFBP7, IFI27, CFI, ID2, IAPP, HTC2, HSPD1, IL2, HSD17B3, HSD3B2, IL9, HSD3B1, IL11, IL12B, IL12RB1, AGFG2, KISS1, KNG1, GJB2, MECP2, SMAD4, MSH6, GSK3B, MAP2, MAS1, MAT2A, MBL2, MDM2, PDIA3, HLA-B, CXCL1, MET, KITLG, GRB2, GPX4, GPR42, GNRH1, GLI3, EPCAM, SH2D1A, H2AX, HAS1, L1CAM, HK1, LAMC2, STMN1, LBR, HCK, LGALS1, LGALS4, LGALS9, LHB, LIMK1, LIPC, LIPE, LMNB1, LOX, LOXL1, CYP4F3, SAG, SRL, ERCC2, DENR, H4C3, H4C8, H4C2, H4C5, H4C13, H4C14, BCAR3, NR0B2, CSE1L, IER3, CRMP1, IRS2, PEA15, HYAL2, TNFRSF6B, IL18R1, CRABP2, CLDN7, H4C11, H4C12, H4C6, H4C4, VWF, WT1, XBP1, CTH, XRCC3, YWHAZ, ZFP36, ZNF217, ZP3, CSK, BAG6, MIA, H3-4, H4C9, AXIN1, FZD7, H4C1, PROM1, CLDN3, ERCC1, BMS1, GDF3, CLOCK, RGS6, IPO13, CETP, SEMA3E, HDAC9, RASSF2, CDX1, BCL10, PDCD6, BCL2L11, CDKN3, DNM1L, KIF20A, CDK4, HNRNPA3P1, CDH15, BCAR1, CFTR, CHRM3, TECR, CLDN4, CPB2, COL1A1, LTB4R, CCR8, EBAG9, LPAR2, SLC33A1, CCR7, S1PR2, CLCN3, CD163, SLIT2, LIPG, CHUK, HAND2, CHST3, VTN, TRPV1, VIP, SRY, SMARCC1, SNAI1, SNCG, FSCN1, SOX15, EIF4EBP1, MEGF8, EDNRA, EDN1, CX3CR1, SSTR4, S1PR1, STAT4, DUSP6, STX5, SULT1A1, SULT2A1, SYP, SMARCA1, SNAI2, SLPI, ELAVL2, EPOR, CCL14, CCL16, CCL17, CCL19, CX3CL1, SDC1, SDC4, EPHB4, SELE, EPHA3, SFRP1, SFRP2, SHC1, SLC2A1, SLC2A3, SLC6A4, SYT1, ADAM17, DPYSL2, DLX3, DEFB4A, DECR1, TNS1, TPM3, TPT1, DCN, DAPK1, CYP11A1, TRO, TRPC6, TXN, TYK2, TYROBP, UCHL1, CYP3A4, UTRN, CYP1A2, CLDN5, TLR3, TCF3, TIMP4, TDGF1, TEK, TERF1, DPP6, DPP4, TFDP1, TFF3, DOK1, TGFB1I1, TGFB3, LEFTY2, TGFBI, TGFBR1, DNMT1, KLF10, SARDH, DLX5, UTF1
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Spinal Fracture
Wikipedia
The score is the sum of three values, each being the score of the most fitting alternative in three categories: [8] Injury type Compression fracture - 1 point Burst fracture - 2 points Translational rotational injury - 3 points Distraction injury - 4 points Posterior ligamentous complex Intact - 0 points Suspected injury or indeterminate - 2 points Injured - 3 points Neurology Intact - 0 points Spinal nerve root injury - 2 points Incomplete injury of cord/ conus medullaris - 3 points Complete injury of cord/conus medullaris (complete) - 2 points Cauda equina syndrome - 3 points A TLICS score of less than 4 indicates non-operative treatment, a score of 4 indicates that the injury may be treated operatively or non-operatively, while a score of more than 4 means that the injury is usually considered for operative management. [8] AOSpine Thoracolumbar Injury Classification System [ edit ] AOSpine Thoracolumbar Injury Classification System (ATLICS) [9] is the most recent classification scheme for thoracolumbar injuries. [10] ATLICS is broadly based on the TLICS system and has sufficient reliability irrespective of the experience of the observer. [10] ATLICS is primarily focused on fracture morphology, and has two additional sections addressing the neurological grading and clinical modifiers: [9] Fracture morphology [ edit ] Type A: Compression injuries (sub-types A0-A4) Type B: Distraction injuries (sub-types B1-B3) Type C: Translation injuries Neurological status [ edit ] N0: neurologically intact N1: transient deficit N2: radiculopathy N3: "incomplete spinal cord injury or cauda equina injury" [9] N4: "complete spinal cord injury" [9] NX: unknown neurological status Modifiers [ edit ] M1: unknown tension band injury status M2: comorbidities References [ edit ] ^ "Fracture" . ... AO Foundation . Retrieved 2019-05-08 . ^ Page 94 and Page 126 in: Douglas L. Brockmeyer, Andrew T.
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Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Omim
Devi et al. (1995) reported the cases of 2 unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. Both mothers reported an upper respiratory infection during the first trimester of pregnancy, which was further complicated by polyhydramnios in the third trimester. ... Cardiac - Endocardial fibroelastosis (EFE) Misc - Polyhydramnios - Infantile death Eyes - Congenital cataracts Neuro - Communicating hydrocephalus Inheritance - Genetic vs. viral ▲ Close
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Xp11.2 Duplication
Wikipedia
American Journal of Human Genetics . 85 (3): 394–400. doi : 10.1016/j.ajhg.2009.08.001 . ... European Journal of Human Genetics . 24 (3): 373–80. doi : 10.1038/ejhg.2015.123 . PMC 4757771 . ... American Journal of Human Genetics . 91 (2): 252–64. doi : 10.1016/j.ajhg.2012.06.010 . ... American Journal of Medical Genetics . 94 (1): 1–4. doi : 10.1002/1096-8628(20000904)94:1<1::AID-AJMG1>3.0.CO;2-V . ... Frontiers in Molecular Neuroscience . 8 : 85. doi : 10.3389/fnmol.2015.00085 .
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Bouffée Délirante
Wikipedia
In contrast to the ICD-10, the term BD does not appear anywhere in ICD-11. ... However, the BD diagnosis has been used as recently as 2019 in Le Groupe Hospitalier Universitaire Paris psychiatrie & neurosciences (GHU Paris), Maison Blanche Bichat XVIII. [16] Older estimates of the incidence of BD in psychiatric hospitalizations ranges from 1-5%. [17] [18] Psychiatric admission reviews show that 2-7% of first episode psychotic episodes are due to brief psychotic disorder; here serving as a surrogate diagnosis for BD. [19] Some authors state that the diagnostic category of BD can be eliminated because it can be fully integrated into the 'Polymorphic subgroup of Acute and Transient Psychotic Disorders' of the ICD-10. [20] Treatment [ edit ] There are no current published guidelines in the English language psychiatric literature that discuss treatment for BD. ... This has led to the term " culture-bound syndrome ." It must be stressed that the term BD long predates any such socio-cultural, ethnic, or regional uses. The African and Caribbean nuances of the diagnosis and presentation of BD has been extensively reviewed by Henry MB Murphy. [25] Note that DSM-5 does not use the term culture-bound and the term BD is not listed in the "Glossary of Cultural Concepts of Distress" in DSM-5. Summary [ edit ] BD is a psychotic disorder of short duration generally considered to have a relatively good prognosis.
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Mood Disorder
Wikipedia
Behaviour therapy , cognitive behaviour therapy and interpersonal therapy have all shown to be potentially beneficial in depression. [85] [86] Major depressive disorder medications usually include antidepressants ; a combination of antidepressants and cognitive behavioral therapy has shown to be more effective than one treatment alone. [87] Bipolar disorder medications can consist of antipsychotics , mood stabilizers , anticonvulsants [88] and/or lithium . ... "Melancholia: A Historical Review" . Journal of Mental Science . 80 (328): 1–42. doi : 10.1192/bjp.80.328.1 . ... Archives of General Psychiatry . 41 (1): 72–80. doi : 10.1001/archpsyc.1984.01790120076010 . ... Experimental and Molecular Pathology . 83 (1): 84–92. doi : 10.1016/j.yexmp.2006.09.008 . ... Serendip. 2006. Web. < https://serendipstudio.org/bb/neuro/neuro06/web2/lpaterek.html >. ^ Kaufman, JC (2001).SLC6A4, NR3C1, POLG, ADCY8, DRD2, NCAM1, CREB1, COMT, BDNF, HTR2A, CRH, CLOCK, DISC1, MAOA, TH, HTR1A, FKBP5, P2RX7, DRD4, TPH1, CACNA1C, TPH2, WFS1, NPY, GSK3B, TNF, TAC1, CRHR1, HTR2C, NTRK2, GPR50, ESR1, OPRK1, PRL, DBH, ABO, HP, GABRA1, SLC6A3, SIRT2, MTHFR, DLG4, GRIN2A, DTNBP1, PDYN, AKT1, DRD3, PROKR2, MCHR1, HTR5A, AVPR1B, GNB3, ZNF804A, FGF2, DAOA, S100B, RELN, MAOB, FMR1, GAL, HCRTR1, NTF3, DLG3, IMPA2, GRM3, GRM2, GAD1, GRIK2, MAP2, GAD2, PROK2, HTR3A, FAAH, IL1RN, DISC2, HTR6, CYP2D6, TACR1, SLC6A2, ARNTL, SMS, CRHBP, PLA2G1B, TIMELESS, SERPINA1, ATP2A2, CRHR2, AR, GABRB2, GABRA6, GABRA5, CRTC1, SLC12A5, MAGEL2, SIGMAR1, RARA, VPS13A, ADRA2A, VIP, GABRD, SIRT1, VGF, SAT1, FEV, ANK3, HTR4, SLC1A2, TSNAX, VEGFA, TSNAX-DISC1, SLC5A7, HES6, GPRC5D, HPGDS, ADRB1, GCH1, ARRB2, TSPAN8, IL9R, SPR, FZD3, HCN4, CRYZ, TBX1, NTSR1, DAO, HIF1A, TGFB1, NTRK3, TGOLN2, NQO1, PAWR, NPY2R, HSPA4, DNMT1, DNMT3B, EDN1, PNOC, HTR1B, ADORA2A, ADCY7, MYO5B, PFKL, SST, RNPS1, CHRM2, CHRM3, ABCG1, FTO, SSTR3, SERTAD1, HSP90AA1, OXT, HTR7, NFKB1, TBC1D25, NTS, HDAC4, RGS6, TNFSF13B, PFKFB3, ERDA1, BSCL2, KAT2B, PMCH, PPARG, PRNP, LDHA, S100A10, KCNK9, PTGS2, HDAC2, SMOX, GAP43, FOSB, DUSP6, GLUL, DCTN1, CACNA1D, AMBP, HDAC1, ADRA2C, ADRA1B, ADCY3, HTT, KCTD12, HCN1, LINC02210-CRHR1, ERBB4, PDE4B, NEGR1, DCLK2, LINC01618, CDH8, MAD1L1, DPY19L3, PHF2, AREL1, EGFLAM, KLHL29, PAFAH1B1, CSE1L, RABGAP1L, SPSB4, NR1H3, CSTF3, NAV3, DAG1, BAIAP2, DGKG, KLHDC8B, WNT3, SSPN, SLC44A5, TCF4, LINC02040, GNG12-AS1, NCAM1-AS1, C6orf99, APBB2, UBA7, MAPT-AS1, RERE, LINC00461, SMIM4, RAPSN, RAB27B, C5orf17, PTPRD, PTH2R, VWC2L, VRK2, LINC01122, FAM228B, EYS, KANSL1, MYO1H, DCC, CREB3L1, ATAD2B, MAPT, EXD2, C11orf49, TNC, SOX6, PPP4R3A, NCOA5, ARHGAP15, YLPM1, CELF4, SORCS3, ZHX3, LMOD1, FSTL4, PLCL2, DPP10, KAZN, BBX, CAMTA1, NUP160, GPM6A, PBRM1, FYB1, TTC12, DDB2, LINGO1, ATP5MD, DELEC1, ARPP21, ARFGAP2, BICRA, KIAA1109, PRR16, NLK, TFAP2D, EMCN, CSNK1G1, IGLV10-54, BHLHE41, TMEM106B, ADAMTS6, BAZ1A, RBFOX1, GABBR1, PON1, ACE, IL6, PER3, CRP, IL1B, IGFBP2, LOC110806262, STIN2-VNTR, EPO, IL10, REM1, NR3C2, APOE, C1QL1, KL, TMED2, TPO, TPPP, P2RX5-TAX1BP3, TEMPS, BICC1, PPP1R9B, OPN4, CHP1, NLRP3, MAFD6, YWHAZ, NRSN1, HOMER1, MAFD4, PLB1, P2RX6, DGKH, P2RX2, FXR1, SMC2, H3P19, P2RX3, DST, PIK3CD, PIK3CB, PIK3CA, CD9, CNR1, P2RY2, P2RY1, P2RX5, P2RX4, CRY2, P2RX1, CTNNB1, DNASE1L3, DRD1, NOS1, MAFD2, MAFD1, FKBP4, GLP1R, GPER1, GRIK4, GRIN2B, HCRT, PIK3CG, GRM7, AVP, ADARB1, PVALB, MIR18A, EIF4EBP1, GABPA, FTL, FOS, FOXO3, ADCY9, PINK1, UBE2Z, FGF9, DMTN, MAPKAP1, LIN28A, SLC17A6, ADRA1A, ADRA2B, AGMAT, CAMKMT, RABEP2, EGF, PPP1R2C, PNPLA3, ZNF34, ADRB2, EDNRA, NDRG2, GABRA3, ACKR3, GLI2, LINC02605, GRM5, ACTB, GRIA3, GRIA1, PPP1R12C, GPR42, RN7SL263P, ADCY1, GLO1, GHSR, AP2B1, PLXNA3, GFAP, ATF7IP, CNDP2, GDNF, USE1, LMO3, GPRC5C, GCHFR, GCG, TMPRSS13, DPYD, PPP1R1B, CECR, CD44, KRIT1, CCKAR, CCK, CRTC2, CAT, OPN1SW, MDD1, MIR17HG, C9orf72, CALR, CALM3, IS1, CALM2, DAOA-AS1, CALM1, CALCA, TAAR6, NANOS3, MCIDAS, TSPO, BRS3, BRCA1, CDSN, OSR1, BPI, CHGB, APLNR, DMD, DLX4, DDC, SHANK3, RGS8, LMLN, CYP19A1, WASHC1, CSNK1E, ANGPT1, CSF2, PDIA3, CAMK2N2, SLC25A4, APOH, STS, CRY1, WASH6P, CREBBP, CP, ATP5F1A, BDNF-AS, SYN2, VSX1, GSTM1, ORM1, PLCB4, PLA2G4A, ST8SIA2, PITX2, ELP1, CCN6, PIK3R2, APLN, PIK3R1, ARHGEF7, CBFA2T2, LPAR2, HTR3B, ABCB1, ADIPOQ, ABCG2, EIF2AK3, PGM1, GDF15, NR1D1, PGD, PAX6, SEC24C, HDAC9, KEAP1, CCS, HDAC6, FOSL1, RASSF7, POU3F1, SLC18A2, SULT2A1, STAR, SSTR5, TDGF1P3, TFRC, SSTR4, SSB, THBS3, SOD2, TM7SF2, SOD1, SOAT1, TRPM2, PTPA, SEMG1, TTN, TYR, CCL11, CCL2, S100A12, VIPR2, PTGS1, VTN, PSMB6, PRKCZ, YY1, TOM1, TUBA1B, GSTT1, RAPGEF3, INSRR, PPP1R13B, IL7, SIRT3, IL4, IL2, IGHG1, ATP2C1, AGO2, IFNG, IFNA13, PCDH17, IFNA1, PCLO, DLL1, HTR1F, IGLV3-25, HSD11B2, SETD2, HRAS, HPX, SLC40A1, VAMP7, HPD, HLA-C, CRYL1, HINT1, ITGA2B, ITIH1, PLCB1, NGF, NUP98, DEAF1, NTRK1, PDLIM5, NRAS, CXCR6, NPAS2, NRG3, NOTCH4, NOS3, PPARGC1A, UTS2, METAP2, ITIH3, RAPGEF4, NFE2L2, MST1, MSMB, MAS1, LTBP3, IGSF9B, LEP, LBP, TBC1D9, STAB1, LAMC2, ABAT
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Acne
Wikipedia
These free radicals likely interfere with the bacterium's metabolism and ability to make proteins. [80] [81] Additionally, benzoyl peroxide is mildly effective at breaking down comedones and inhibiting inflammation. [78] [81] Combination products use benzoyl peroxide with a topical antibiotic or retinoid, such as benzoyl peroxide/clindamycin and benzoyl peroxide/adapalene , respectively. [36] Topical benzoyl peroxide is effective at treating acne. [82] Side effects include increased skin photosensitivity , dryness, redness, and occasional peeling. [83] Sunscreen use is often advised during treatment, to prevent sunburn . Lower concentrations of benzoyl peroxide are just as effective as higher concentrations in treating acne but are associated with fewer side effects. [81] [84] Unlike antibiotics, benzoyl peroxide does not appear to generate bacterial antibiotic resistance . [83] Retinoids [ edit ] Retinoids are medications that reduce inflammation, normalize the follicle cell life cycle , and reduce sebum production. [45] [85] They are structurally related to vitamin A . [85] Studies show dermatologists and primary care doctors underprescribe them for acne. [15] The retinoids appear to influence the cell life cycle in the follicle lining. ... Acne often resolves completely or is much milder after a 4–6 month course of oral isotretinoin. [1] After a single round of treatment, about 80% of people report an improvement, with more than 50% reporting complete remission. [20] About 20% of people require a second course, but 80% of those report improvement, resulting in a cumulative 96% efficacy rate. [20] There are concerns that isotretinoin is linked to adverse effects, like depression , suicidality , and anemia . There is no clear evidence to support some of these claims. [1] [20] Isotretinoin has been found in some studies to be superior to antibiotics or placebo in reducing acne lesions. [17] However, a 2018 review comparing inflammatory lesions after treatment with antibiotics or isotretinoin found no difference. [88] The frequency of adverse events was about twice as high with isotretinoin use, although these were mostly dryness-related events. [17] No increased risk of suicide or depression was conclusively found. [17] Medical authorities strictly regulate isotretinoin use in women of childbearing age due to its known harmful effects in pregnancy . [20] For such a woman to be considered a candidate for isotretinoin, she must have a confirmed negative pregnancy test and use an effective form of birth control . [20] In 2008, the United States started the iPLEDGE program to prevent isotretinoin use during pregnancy. [89] iPledge requires the woman to have two negative pregnancy tests and to use two types of birth control for at least one month before isotretinoin therapy begins and one month afterward. [89] The effectiveness of the iPledge program is controversial due to continued instances of contraception nonadherence. [89] [90] Antibiotics [ edit ] People may apply antibiotics to the skin or take them orally to treat acne. They work by killing C. acnes and reducing inflammation. [20] [83] [91] Although multiple guidelines call for healthcare providers to reduce the rates of prescribed oral antibiotics, many providers do not follow this guidance. [92] Oral antibiotics remain the most commonly prescribed systemic therapy for acne. [92] Widespread broad-spectrum antibiotic overuse for acne has led to higher rates of antibiotic-resistant C. acnes strains worldwide, especially to the commonly used tetracycline (e.g., doxycycline ) and macrolide antibiotics (e.g., topical erythromycin ). [16] [83] [91] [92] Therefore, dermatologists prefer antibiotics as part of combination therapy and not for use alone. [15] Commonly used antibiotics, either applied to the skin or taken orally, include clindamycin , erythromycin, metronidazole , sulfacetamide , and tetracyclines (e.g., doxycycline or minocycline ). [47] Doxycycline 40 milligrams daily (low-dose) appears to have similar efficacy to 100 milligrams daily and has fewer gastrointestinal side effects. [15] However, low-dose doxycycline is not FDA-approved for the treatment of acne. [93] Antibiotics applied to the skin are typically used for mild to moderately severe acne. [20] Oral antibiotics are generally more effective than topical antibiotics and produce faster resolution of inflammatory acne lesions than topical applications. [1] Topical and oral antibiotics are not recommended for use together. [91] Oral antibiotics are recommended for no longer than three months as antibiotic courses exceeding this duration are associated with the development of antibiotic resistance and show no clear benefit over shorter durations. [91] If long-term oral antibiotics beyond three months are used, then it is recommended that benzoyl peroxide or a retinoid be used at the same time to limit the risk of C. acnes developing antibiotic resistance. [91] The antibiotic dapsone is effective against inflammatory acne when applied to the skin.
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Cardiomyopathy, Dilated, 2c
Omim
The oldest sib presented at age 2 years with asthma-like symptoms, but was diagnosed with CMD only at age 20 years, at which time he had an ejection fraction (EF) of 44%. Cardiac MRI/MRA showed a mildly dilated left ventricle (LV), with moderate to severe decrease in function of both ventricles. ... Cardiac MRI/MRA at age 10 years showed dilated LV with moderately decreased function (EF, 37%). Two younger sibs had normal echocardiograms in the first year of life, but presented with severe dilated cardiomyopathy at ages 2 years and 3 years, respectively, and died despite intensive treatment. ... The 20-year-old brother showed mild improvement in exertional dyspnea, with increase in EF from 36 to 48%. His 10-year-old brother remained stable on treatment, with symptoms of heart failure upon exertion and an EF of 45%.TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN, PPCS, CRYAB, PRDM16, DSG2, FHL2, ABCC9, GATAD1, ANKRD1, DOLK, LDB3, TXNRD2, NEBL, CAP2, LAMA4, LMNA, TTN-AS1, ACTB, CMD1B, LAG3, CHRM2, GATA4, TRIT1, CASZ1, ERBIN, FLNC, NKX2-5, REN, CALD1, MYLK3, MYL12B, GATA5, APP, LAMA1, LINC01672, MYEF2, GATA6, CNTN3, MEF2A, MYOG, MYLK, MYL2, MEOX1, PDLIM7, HAND2, SRA1, GJA1, PPIF, BCAP31, KCNJ12, HSP90AA1, HSPA1B, MYL12A, SOX9
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Sexuality After Spinal Cord Injury
Wikipedia
The ability to experience sexual pleasure and orgasm are among the top priorities for sexual rehabilitation among injured people. [14] Much research has been done into erection . [14] By two years post-injury, 80% of men recover at least partial erectile function, [15] though many experience problems with the reliability and duration of their erections if they do not use interventions to enhance them. [16] Studies have found that half [15] or up to 65% of men with SCI have orgasms, [17] although the experience may feel different than it did before the injury. [15] Most men say it feels weaker, and takes longer and more stimulation to achieve. [18] Common problems women experience post-SCI are pain with intercourse and difficulty achieving orgasm. [19] Around half of women with SCI are able to reach orgasm, usually when their genitals are stimulated. [20] Some women report the sensation of orgasm to be the same as before the injury, and others say the sensation is reduced. [5] Complete and incomplete injury [ edit ] The severity of the injury is an important aspect in determining how much sexual function returns as a person recovers. [15] [21] According to the American Spinal Injury Association grading scale, an incomplete SCI is one in which some amount of sensation or motor function is preserved in the rectum . [10] This indicates that the brain can still send and receive some messages to the lowest parts of the spinal cord, beyond the damaged area. ... Although erections are not necessary for satisfying sexual encounters, many men see them as important, and treating erectile dysfunction improves their relationships and quality of life. [78] Whatever treatment is used, it works best in combination with talk-oriented therapy to help integrate it into the sex life. [65] Oral medications and mechanical devices are the first choice in treatment because they are less invasive, [79] are often effective, and are well tolerated. [80] Oral medications include sildenafil (Viagra), tadalafil (Cialis), and vardenafil (Levitra). [81] [65] Penis pumps induce erections without the need for drugs or invasive treatments. To use a pump, the man inserts his penis into a cylinder, then pumps it to create a vacuum which draws blood into the penis, making it erect. [82] [65] He then slides a ring from the outside of the cylinder onto the base of the penis to hold the blood in and maintain the erection. [82] [53] A man who is able to get an erection but has trouble maintaining it for long enough can use a ring by itself. [63] [83] The ring cannot be left on for more than 30 minutes and cannot be used at the same time as anticoagulant medications. [53] If oral medications and mechanical treatments fail, the second choice is local injections: [79] medications such as papaverine and prostaglandin that alter the blood flow and trigger erection are injected into the penis. [84] This method is preferred for its effectiveness, but can cause pain and scarring. [85] Another option is to insert a small pellet of medication into the urethra , but this requires higher doses than injections and may not be as effective. [85] Topical medications to dilate the blood vessels have been used, but are not very effective or well tolerated. [80] Electrical stimulation of efferent nerves at the S2 level can be used to trigger an erection that lasts as long as the stimulation does. [86] Surgical implants, either of flexible rods or inflatable tubes, are reserved for when other methods fail because of the potential for serious complications, which occur in as many as 10% of cases. [80] They carry the risk of eroding penile tissue (breaking through the skin). [87] Although satisfaction among men who use them is high, if they do need to be removed implants make other methods such as injections and vacuum devices unusable due to tissue damage. [80] It is also possible for erectile dysfunction to exist not as a direct result of SCI but due to factors such as major depression, diabetes , or drugs such as those taken for spasticity. [88] Finding and treating the root cause may alleviate the problem. For example, men who experience erectile problems as the result of a testosterone deficiency can receive androgen replacement therapy . [44] Ejaculation and male fertility [ edit ] Without medical intervention, the male fertility rate after SCI is 5–14%, but the rate increases with treatments. [89] Even with all available medical interventions, fewer than half of men with SCI can father children. [90] Assisted insemination is usually required. [91] As with erection, therapies used to treat infertility in uninjured men are used for those with SCI. [65] For anejaculation in SCI, the first-line method for sperm retrieval is penile vibratory stimulation (PVS). [8] [81] [92] [93] A high-speed vibrator is applied to the glans penis to trigger a reflex that causes ejaculation, usually within a few minutes. [92] Reports of efficacy with PVS range from 15 to 88%, possibly due to differences in vibrator settings and experience of clinicians, as well as level and completeness of injury. [92] Complete lesions strictly above Onuf's nucleus (S2–S4) are responsive to PVS in 98%, but complete lesions of the S2–S4 segments are not. [8] In case of failure with PVS, spermatozoa are sometimes collected by electroejaculation : [8] [92] [93] an electrical probe is inserted into the rectum, where it triggers ejaculation. [81] The success rate is 80–100%, but the technique requires anaesthesia and does not have the potential to be done at home that PVS has. [21] Both PVS and electroejaculation carry a risk of autonomic dysreflexia, so drugs to prevent the condition can be given in advance and blood pressure is monitored throughout the procedures for those who are susceptible. [94] Massage of the prostate gland and seminal vesicles is another method to retrieve stored sperm. [65] [92] If these methods fail to cause ejaculation or do not yield sufficient usable sperm, sperm can be surgically removed by testicular sperm extraction [21] or percutaneous epididymal sperm aspiration . [8] These procedures yield sperm in 86–100% of cases, but nonsurgical treatments are preferred. [21] Premature or spontaneous ejaculation is treated with antidepressants including selective serotonin reuptake inhibitors , which are known to delay ejaculation as a side effect . [63] Women [ edit ] Compared with the options available for treating sexual dysfunction in men (for whom results are concretely observable), those available for women are limited. [95] For example, PDE5 inhibitors , oral medications for treating erectile dysfunction in men, have been tested for their ability to increase sexual responses such as arousal and orgasm in women—but no controlled trials have been done in women with SCI, and trials in other women yielded only inconclusive results. [96] In theory, women's sexual response could be improved using a vacuum device made to draw blood into the clitoris, but few studies on treatments for sexual function in women with SCI have been carried out. [83] There is a particular paucity of information outside the area of reproduction. [5] Education and counseling [ edit ] Counseling about sex and sexuality by medical professionals, psychologists , social workers , and nurses is a part of most SCI rehabilitation programs. [70] Education is part of the follow-up treatment for people with SCI, [20] as are psychotherapy , peer mentorship , and social activities; these are helpful for improving skills needed for socializing and relationships. [15] Rather than addressing sexual dysfunction strictly as a physical problem, appropriate sexual rehabilitation care takes into account the individual as a whole, for example addressing issues with relationships and self-esteem. [97] Sexual counseling includes teaching techniques to manage depression and stress, and to increase attention to preserved sensations during sexual activity. [55] Education includes information about birth control or assistive devices such as those for positioning in sex, or advice and ideas for addressing problems such as incontinence and autonomic dysreflexia. [98] Many SCI patients have received misinformation about the effects of their injury on their sexual function and benefit from education about it. [10] Although sexual education shortly after injury is known to be helpful and desired, it is frequently missing in rehabilitation settings; [15] a common complaint from those who go through rehabilitation programs is that they offer insufficient information about sexuality. [57] Longer-term education and counseling on sex after discharge from a hospital setting are especially important, [99] yet sexuality is one of the most often neglected areas in long-term SCI rehabilitation, particularly for women. [61] Care providers may refrain from addressing the topic because they feel intimidated or unequipped to handle it. [11] Clinicians must be circumspect in bringing up sexual matters since people may be uncomfortable with or unready for the subject. [44] Many patients wait for providers to broach the topic even if they do want the information. [57] A person's experience in managing sexuality after the injury relies not only on physical factors like severity and level of the injury, but on aspects of life circumstances and personality such as sexual experience and attitudes about sex. [15] As well as evaluating physical concerns, clinicians must take into account factors that affect each patient's situation: gender, age, cultural, and social factors. [71] Aspects of patients' cultural and religious backgrounds, even if unnoticed before the injury caused sexual dysfunction, affect care and treatments—particularly when cultural attitudes and assumptions of patients and care providers conflict. [100] Health professionals must be sensitive to issues of sexual orientation and gender identity , showing respect and acceptance while communicating, listening, and emotionally supporting. [44] Providers who treat SCI have been found to assume their patients are heterosexual or to exclude LGBTQ patients from their awareness, potentially resulting in substandard care. [101] Academic research on sexuality and disability under-represents LGBTQ perspectives as well. [3] As well as the patient, the partner of an injured person frequently needs support and counseling. [102] It can help with adjustment to a new relationship dynamic and self-image (such as being placed in the role of caretaker) or with stresses that arise in the sexual relationship. [102] Frequently, partners of injured people must contend with feelings like guilt, anger, anxiety, and exhaustion while dealing with the added financial burden of lost wages and medical expenses. [103] Counseling aims to strengthen the relationship by improving communication and trust. [29] Children and adolescents [ edit ] Not only does SCI present children and adolescents with many of the same difficulties adults face, it affects the development of their sexuality. [104] Although substantial research exists on SCI and sexuality in adults, very little exists on the ways in which it affects development of sexuality in young people. [105] Injured children and adolescents need ongoing, age-appropriate sex education that addresses questions of SCI as it relates to sexuality and sexual function. [106] Very young children become aware of their disabilities before their sexuality, but as they age they become curious just as able-bodied children do, and it is appropriate to provide them with increasing amounts of information. [105] Caregivers help the child and family prepare for transition into adulthood, including in sexuality and social interaction, beginning early and intensifying during adolescence. [107] Parents need education about the effects of SCI on sexual function so that they can answer their children's questions. [105] Once patients reach their teens, they need more specific information about pregnancy, birth control, self-esteem, and dating. [77] Teenagers with lost or reduced genital sensation benefit from education about alternative ways to experience pleasure and satisfaction from sexual acts. [108] The teen years are often particularly difficult for those with SCI, in terms of body image and relationships. [109] Given the importance they place on sexuality and privacy, adolescents may experience humiliation when parents or caregivers bathe them or take care of bowel and bladder needs. [110] They can benefit from sexuality counseling, support groups, [109] and mentoring by adults with SCI who can share experiences and lead discussions with peers. [77] With the right care and education from family and professionals, injured children and adolescents can develop into sexually healthy adults. [19] Changes in sexual practices [ edit ] People make a variety of sexual adaptations to help adjust to SCI. ... Intrauterine devices could have dangerous complications that could go undetected if sensation is reduced. [47] [73] Diaphragms that require something to be inserted into the vagina are not usable by people with poor hand function. [126] An option of choice for women is for partners to use condoms . [126] [125] Long-term adjustment [ edit ] In the first months after an injury, people commonly prioritize other aspects of rehabilitation over sexual matters, but in the long term, adjustment to life with SCI necessitates addressing sexuality. [44] Although physical, psychological and emotional factors militate to reduce the frequency of sex after injury, it increases after time. [15] As years go by, the odds that a person will become involved in a sexual relationship increase. [121] Difficulties adjusting to a changed appearance and physical limitations contribute to reduced frequency of sexual acts, and improved body image is associated with an increase. [5] Like frequency, sexual desire and sexual satisfaction often decrease after SCI. [105] The reduction in women's sexual desire and frequency may be in part because they believe they can no longer enjoy sex, or because their independence or social opportunities are reduced. [5] As time goes by people usually adjust sexually, adapting to their changed bodies. [19] Some 80% of women return to being sexually active, [50] and the numbers who report being sexually satisfied range from 40 to 88%. [127] Although women's satisfaction is usually lower than before the injury, [5] it improves as time passes. [29] Women report higher rates of sexual satisfaction than men post-SCI for as many as 10–45 years. [57] More than a quarter of men have substantial problems with adjustment to their post-injury sexual functioning. [128] Sexual satisfaction depends on a host of factors, some more important than the physical function of the genitals: intimacy, quality of relationships, satisfaction of partners, [15] willingness to be sexually experimental, and good communication. [19] Genital function is not as important to men's sexual satisfaction as are their partners' satisfaction and intimacy in their relationships. [70] For women, quality of relationships, closeness with partners, sexual desire, and positive body image, as well as the physical function of the genitals, contribute sexual satisfaction. [129] For both sexes, long-term relationships are associated with higher sexual satisfaction. [15] Relationships [ edit ] A catastrophic injury such as SCI puts strain on marriages and other romantic relationships, which in turn has important implications for quality of life.