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Hypokinesia
Wikipedia
However, a variety of complications, including possible tumor formation, inappropriate cell migration, rejection of cells by the immune system, and cerebral hemorrhage are possible, causing many physicians to believe the risks outweigh the possible benefits. [28] NOP receptor antagonists [ edit ] Another treatment, still in an experimental stage, is the administration of nociception FQ peptide (NOP) receptor antagonists . ... "Chronic hyperammonemia, glutamatergic neurotransmission and neurological alterations". Metabolic Brain Disease . 28 (2): 151–4. doi : 10.1007/s11011-012-9337-3 .GCH1, OPRL1, APOD, SLC6A3, TH, LRRK2, MAPT, SNCA, ATXN3, ATXN1, FMR1, GBA, PSEN1, TWNK, PLA2G6, KLHL41, ATP6AP2, DNAJC6, KMT2B, SNCAIP, SYNJ1, PDE8B, PRKRA, UCHL1, XPA, FARS2, TPM3, TPM2, TK2, DHDDS, TBP, ACTA1, SPR, SLC20A2, PINK1, WDR45, AFG3L2, DNAJC12, VPS35, SLC30A10, TTC19, VPS13C, C19orf12, CHCHD2, ATL1, RRM2B, HTRA2, COQ2, JPH3, GIGYF2, FBXO7, MYORG, SLC39A14, ATP13A2, DNAJC13, ADGRV1, PARK7, TUBB6, POLG2, TAF1, SCN2A, SCN9A, NR4A2, MYPN, COASY, STX1B, KCNC3, RAB39B, HTT, EARS2, GLUD2, GABRG2, GABRD, FTL, EIF4G1, HCN1, DCTN1, KBTBD13, CSF1R, LYST, ATP1A3, ATXN8, SLC25A4, ADH1C, NEB, PANK2, PRKAR1B, POLG, ATXN2, ATXN8OS, SCN1A, PRNP, PPP2R2B, PTS, SCN1B, PODXL, PDGFRB, PDGFB, PRKN, SF3B1, YWHAE, ASXL1, TET2, PAFAH1B1, REG1A, STXBP3, PSPH, BPIFA2, RIDA, PSPN, HTR2C, MSMB, CCDC62, TMEM240, PPP1R1B, ACO1, TMEM106B, GRIN2A, APOE, CYP1A2, NQO1, DRD2, DRD4, EEF1A2, GRIN2B, MCF2L, IREB2, LRP2, NBN, RGS2, SLC18A2, SOD2, ECT
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Bubonic Plague
Wikipedia
From 1,000 to 2,000 cases are conservatively reported per year to the WHO . [28] From 2012 to 2017, reflecting political unrest and poor hygienic conditions, Madagascar began to host regular epidemics. [28] Between 1900 and 2015, the United States had 1,036 human plague cases with an average of 9 cases per year.
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Major Depressive Disorder
Omim
Other Features In a brain imaging study of 131 individuals, 66 at high risk for depression, including those with a parental history of depression, and 65 at low risk, Peterson et al. (2009) found that high-risk individuals had large expanses of cortical thinning across the lateral surface of the right cerebral hemisphere compared to low-risk individuals. An average reduction of 28% in cortical thickness was observed in this area, which included the inferior and middle frontal gyri, somatosensory and motor cortices, the dorsal and inferior parietal regions, the inferior occipital gyrus, and the posterior temporal cortex. ... Biochemical Features Mathe et al. (1994) examined the concentration of calcitonin gene-related peptide (CALCA, or CGRP; 114130) immunoreactivity in the CSF of 63 patients with major depression with the concentration found in the CSF of 28 patients with schizophrenia (181500) and 20 controls.CACNA1C, CRHR1, SLC6A4, TPH2, FKBP5, HTR2A, GAD1, CAT, FREM3, GALR2, CYP2D6, EDN1, PCLO, RELN, GRM7, GRM5, DRD2, ESR2, CHRM3, GLT8D1, PLCB1, ITIH1, TPH1, HTR1A, BDNF, IL10, DISC1, IL6, IL1B, LEP, PROM1, COMT, SLC6A2, HTR2C, CREB1, CRH, CRP, MAOA, CLOCK, ACE, GSK3B, NR3C1, VEGFA, NCAM1, RAPGEF5, MTHFR, TNF, ABCB1, NR3C2, SST, S100A10, NTRK2, NPY, GNB3, GDNF, CYP2C19, FKBP4, DRD3, IFNG, HTR1B, DTNBP1, SLC6A15, MAOB, CNR1, SERPINE1, CUX1, HP, LHPP, S100B, GRIA4, HSPA4, DLG4, GAL, DAOA, DRD4, PDLIM5, CYP2C9, DBH, OXTR, SOD2, EGFR, AVP, TDO2, TH, FGFR1, FMR1, MTOR, GFAP, GRIK4, DCANP1, HOMER1, PTGS2, IFNA1, KMO, GAD2, GDE1, EHD3, CREM, CRHBP, HTR3B, TSNAX-DISC1, APAF1, PROK2, GCH1, HSPA1A, MYT1L, EGF, HDAC5, GJA1, SAT1, TAC1, PDYN, HTR3A, ADCY7, IL2, DLG3, PCNT, MIR1202, PAWR, DDIT4, CXCL10, SGK1, MORC1, TEF, REST, NTF3, ENPEP, PTPRR, IKBKE, GRIA2, PRKCB, NPAS3, ADRA1A, PFKFB3, EDEM1, BMP7, CNTNAP2, ADRB3, PEX19, CMYA5, MCTP2, DEAF1, FOS, MPO, IL20, AKAP8, GRK5, POU3F1, PTX3, RNF41, TYK2, MED12, MDM4, CCL2, M6PR, GABBR2, HIF1A, PSMB4, ACP1, PEA15, LDHA, MAP2K1, CCND1, IL2RA, MDGA1, GALR3, KPNA3, ZBTB16, CC2D1A, IL11, KDR, LRP8, TBX21, IFNL3, IRF7, REEP5, GNB1L, ATP7B, BCL9, HSPA1B, BDKRB2, QKI, VIP, FAAH, HLF, USP46, LTA, PINK1, IL19, HSPA12A, ARTN, RAPH1, BCR, KALRN, ADCY5, LSAMP, KYNU, LRP1, MIR30E, TOMM40, NDUFV2, TLR7, NEFL, ARSA, VAMP2, OAS2, FOXP2, SLIT3, EIF4B, ANPEP, NTRK3, PLG, GMIP, PRIMA1, CSF2RB, CSNK1D, CCKAR, CTLA4, CTNND2, FOXD3, CCL24, NELL1, SLC17A6, IL24, ARRB1, ERBB3, KYAT1, PDE11A, NR4A2, TFCP2, SLC1A6, NTM, CNP, ACSM1, UCN3, EMP1, CDH7, TERT, APRT, CDKN2A, DLG2, SSTR5, SEC24C, HSPA1L, ISG15, MAP2, NR4A1, SRRT, CD34, DDC, ABI3BP, IFI44L, NDUFV1, MMP8, IFI6, SLC6A13, HSP90AA1, GALR1, XDH, CAMK2A, KYAT3, OXT, SOX9, SLC5A7, HPSE, BICC1, NRG1, LINC02210-CRHR1, ZNF804A, ANK3, ERBB4, ELAVL2, LRFN5, DEFB1, RERE, RSRC1, ZBTB20, HTT, SYNE1, SP4, GABBR1, L3MBTL2, LPGAT1, GPM6A, ITIH3, TCF4, NEGR1, LIN28B, SEMA3A, CACNB2, TMEM161B, CRTAP, PCDH9, NBAS, TLR4, CDC42BPB, RAPSN, CAPN15, RORA, SGIP1, ATP5MD, CHST9, TRIO, ARFGAP2, PZP, RARRES2, POM121L2, RASGRF2, KRBA1, CNTNAP5, TFAP2D, TRIM26, CSMD2, SOX5, UBA7, SPPL3, TYR, FAM222A-AS1, OR2T12, NAV3, STAR, PTPRD, STAU1, CREB3L1, NEK4, NCALD, RTN1, FAM222A, FAM172A, PCMTD1, CTTNBP2, KLHL29, ANKRD27, ORAI1, SNX29, SPSB4, ROBO2, KIAA1109, VRK2, RAB27B, AGBL4, WNT3, LINGO1, UTRN, PRRC2A, PLEK2, PHF3, SEC11A, PCDHA1, PCDHA2, ARHGAP8, LMOD1, PCDHA3, PCDHA4, PCDHA5, ZDHHC5, PCDHA6, SNED1, TENM4, AUTS2, ERC2, YLPM1, GRIP1, CRB1, ASTN2, FSTL4, BBX, ZCCHC14, FAM120A, SYNE2, PLCL2, RPRD2, ZFPM2, KAZN, CAMTA1, CELF4, NUP160, KCNQ5, SIRT1, GNL3, ARHGAP15, ZNF93, VPS41, REV1, DCDC2, MRPL48, MPP6, NLK, EMCN, CNTN5, CSNK1G1, ENOX1, WIPI1, ATAD2B, MTMR12, TMEM106B, RBFOX1, CNNM2, PRR16, PBRM1, EXD2, ABT1, WDR12, IGLV10-54, OSTM1, SPCS1, PPP4R3A, CTNNA3, CHD7, PIPOX, BICRA, ADGRE2, ZNRD1, DELEC1, SOX6, METTL9, ZHX3, PDZD2, IGSF9B, SORCS3, LARGE1, MICAL1, CYP7B1, CSMD1, SUDS3, ZSCAN31, FEZ1, EIF5B, DOCK4, ZNF536, ALX4, PLEKHM1, AREL1, RABGAP1L, CCS, PCDH15, C11orf49, BHLHE41, STK24, TUSC3, OR12D3, SSPN, H2BC15, MAD1L1, BCAR3, CNTNAP1, GRTP1, DDO, CCDC170, SEMA6D, MAB21L4, CARF, STK19, DMTF1, NR1H3, FAM13A, ADAMTS6, STMN2, AS3MT, BTN3A2, BTN3A1, BTN2A1, RTN4, BAZ1A, LILRA1, KLF12, MGAT4B, VPS45, ITGA11, SHANK2, NT5C2, TRIM31, TENM2, TXNDC9, ATG7, KCNMB2, GPHN, HCG9, NCOA5, BAIAP2, SLC30A9, OLFM4, SLC12A5, ANO8, DENND1A, ATP5MG, DPP10, STAG3, ARPP21, MTERF4, TTC12, C4orf33, CRYBA1, KCNB1, CDH8, CDH9, STT3A, ITGB5, LINC00240, MYO1H, HECTD4, NDUFA6-DT, ACTG1P22, KSR2, CASC22, KANSL1, C6orf99, CARM1P1, ZSCAN16-AS1, ZNF615, TMEM150B, MAPT-AS1, SLC9A9, TNC, KLC1, MANCR, OSTM1-AS1, AK9, KLHDC8B, UNC13D, CFB, LINC01592, MSRA, TSNARE1, SLC44A5, ARL5B, KMT2A, MICB, NCAM1-AS1, ZSCAN12P1, PHACTR1, MCM9, DAGLA, CACNA1E, CACNA2D1, MAPT, LTBP3, GNG12-AS1, SLC8A1-AS1, XKR6, MYO10, LIN28B-AS1, MIR924HG, LINC00461, LINC02694, MIR137HG, GNL1, GNAI3, GMPR, DFFA, GSDME, LINC01122, PRR5-ARHGAP8, VWC2L, SMIM4, DSCAM, FYB1, C5orf17, FHIT, ELAVL4, EML1, FAT1, ESRRG, SAMD5, DDB2, SFTA2, HLA-DMB, RFESD, CDKN2B-AS1, CSE1L, LINC00705, DCDC1, SHISA9, EYS, CSTF3, HLA-DQB1, HLA-B, BEND4, HLA-A, MUC5B, FER1L6, CYP21A2, DAG1, FAM228B, ERCC6L2, DGKG, DCC, ADAMTS16, GPX6, LINC01014, APOE, RERE-AS1, LINC02119, ZFHX3, LINC01876, MTND2P23, DENND1B, PGBD4, POU5F2, PHF2, OPA1, OPCML, PSORS1C2, OTUD7A, IL12A-AS1, ASTN1, PKLR, PAFAH1B1, RNF103-CHMP3, MUCL3, BORCS7-ASMT, ZNF417, AQP4-AS1, ANKRD19P, LINC02240, B3GLCT, ATP6V1B2, L3MBTL2-AS1, DPY19L3, FER1L6-AS2, RHBDL2, PAUPAR, APBB2, LINC01645, MYOSLID, PGC, TMEM161B-AS1, LINC01568, PSORS1C1, KLHL23, EGFLAM, P2RX7, AMPD3, LINC01938, LINC02797, COL22A1, UPP2, LINC01618, DCLK2, NRDC, PAX5, ASIC2, LINC02824, PLCG1, LINC02040, LOC110806262, HCRT, ELK3, ECT, SLC6A3, TSPO, MDD1, EXOSC6, EPHB1, ESR1, ENDOU, IGFBP2, POMC, CFP, NGFR, REM1, CECR, OPRM1, SLC1A2, KL, MOG, ATF7IP, FTO, VGF, MAPK1, CXCL8, SMPD1, PAEP, NLRP3, TCF3, NGF, CHRM2, KHSRP, TNFRSF1B, HCLS1, IL1A, PDE4A, FGF2, SIGLEC7, PSIP1, IL2RB, GRM3, MIR132, KCNK2, ACHE, GRIN2B, EGR1, AHR, MIR221, SLC17A7, RGS4, PRL, SIGMAR1, GATA3, GRIN2A, TRD, CHRNA7, NUCB2, IDO1, MAG, AR, IL18, NTSR1, BCL2, TSNAX, IL17A, OPN1SW, SOD1, IL1RN, TNFRSF1A, CRHR2, SLC1A3, IGF1, IFNA13, CRY1, HTR6, TNFAIP3, BMP1, CSF2, PDLIM7, ADIPOQ, LAMC2, CCL11, CALCA, MIR34B, CASP1, ALOX5, EIF4EBP1, BCHE, PGPEP1, DUSP1, DST, EPHB2, PYCARD, DVL3, P2RX2, ZC4H2, SAGE1, CSNK1E, SYNM, HACD3, ADSL, SMUG1, CPOX, CHRNA4, SOSTDC1, MOCOS, ADCYAP1, MTCO2P12, LOC107987479, P2RX5-TAX1BP3, CYP1A2, DLX4, BDNF-AS, DRD1, C1QL1, PDE9A, TLN2, GRM2, P2RX4, WASF1, HTR5A, SNCA, SNAP25, P2RX5, P2RX6, NAT8L, GPR50, GRAP2, SLC18A2, SLA2, CFH, P2RY1, P2RY2, P2RX3, P2RX1, OPRK1, COX2, MECP2, ACACA, SMCP, MARS1, FADS1, XBP1, TGFB1, IL1R1, NOS1, NOS3, NRGN, IL13, FAM214B, IL4, SHBG, FADS2, GRIA1, WASF2, PSMD9, PROKR2, ERICH3, FGF9, MIR212, PVALB, PON1, PLP1, PLAU, PLAT, REN, SORT1, MIR155, TYMS, CNTN3, GLS, BMS1, GLUL, SCD, PLPP5, TSACC, OPN4, LINC02605, SRRM4, ABCA13, TP53INP1, TESC, LINC00578, EBPL, LINC01108, PHF21B, PPP1R9B, ZNF469, RLN3, TOX2, PLB1, SLC22A16, EARS2, FMR1-IT1, IL33, PARP15, CAVIN3, SLC38A7, RBM14-RBM4, TMPRSS6, OLIG1, IL34, TMEM132D, PCAT29, PLXNA3, GPR158, ANKK1, SKA2, MALAT1, MUC21, TMPPE, ATF4P3, SMIM30, ELOVL5, PHOBS, ACKR3, SCPEP1, ZNF603P, MIRLET7B, GRHL3, MIRLET7C, TRPC7, MIR137, MIR149, MIR183, TMEM159, MIR184, MIR185, MIR21, MDD2, MIR26B, NLGN2, MIR34A, TNFSF12-TNFSF13, MIR34C, HCN1, LINC00273, MIR664A, IGFBPL1, MIXL1, ROPN1L, ASPM, COPD, PDGFC, KIDINS220, H19, ARHGAP24, ADAMTS10, ZNF34, TNKS2, PPP1R2C, FLAD1, WDR26, PSORS1C3, PANK2, C20orf181, TNIP3, BTNL8, ZNF326, MAPKAP1, LINC02153, TAAR6, METTL3, NANOS3, DEFA1B, SLCO6A1, HHIP, AANAT, ALKBH5, FUT3, HDAC2, HNF4A, HPT, HRC, HSD3B2, HSD11B1, HSPA5, HSPD1, HTR1F, HTR4, IFIT3, IGF1R, IGFBP1, IGFBP7, IL6R, IL7, CXCR2, HCRTR1, PDIA3, CXCL1, GLB1, GABRA3, GABRA6, GALC, GATA1, GCHFR, GFER, CBLIF, GPI, GRM8, GPER1, GPR42, GPX1, GRIA3, GRN, GRIK3, GRM4, INSR, ISG20, JUN, OGN, NOTCH1, NPAS2, NPPC, NPY2R, NUP98, NVL, OGG1, TNFRSF11B, MUSK, PEBP1, PAM, REG3A, PDE1A, PDE4B, PDE8A, SERPINF1, NFE2L2, MTNR1B, JUNB, MEF2C, JUND, STMN1, LBP, LIG4, LMX1B, LRP2, MC1R, MEN1, ND4, MET, MFAP1, MIF, MMP7, ABCC1, MSH3, MT2A, GABPA, FUS, PARP14, FRAXA, SLC25A6, APOB, AQP4, ASIP, ASPA, ALDH7A1, AVPR1B, BCS1L, BDKRB1, BGN, BMP5, BRS3, C3, CAD, CALB2, CAPN2, CD5L, SLC25A4, ANGPT2, ANG, ADRA2C, ACR, ADAR, ADARB1, ADCY3, ADCYAP1R1, ADRA2A, ADRA2B, ADRB1, AMY1C, GRK2, AGT, AKT1, ALB, AMBP, AMY1A, AMY1B, CD14, CD81, CDK5, EPO, DNMT1, DNMT3B, DRD5, EDNRA, ENG, ENO2, EPHX2, ERBB2, TIMM8A, ESRRB, FABP2, FBN1, FBN2, FGF13, FGFR2, FOSB, NQO1, DEFA1, CDK9, CRY2, CHI3L1, CNTF, CORT, COX8A, CPS1, CREBBP, CRK, CS, DECR1, MAPK14, CSF3, NCAN, CCN2, CYP17A1, CYP19A1, DDT, PGF, PLA2G1B, PLA2G2A, PLA2G4A, BAG3, RAB3D, NR1D1, CARTPT, KDM4A, KEAP1, SV2A, TSPAN5, CEBPZ, FLOT1, RBM14, AHSA1, ST6GALNAC2, CXCR6, NRG3, WASF3, PPARGC1A, ATG5, CDYL, COX5A, NRP1, BHLHE40, TNFSF11, SOCS1, TNKS, BECN1, TNFSF12, TNFRSF11A, PER3, NDST3, SQSTM1, TIMELESS, MBD2, H2AC11, MGAM, SPAG9, LPAR2, STIP1, SDS, CIT, ARHGEF3, B3GAT1, CACYBP, HPGDS, SGSM3, SETD2, A1CF, NOP53, DHH, FBXL4, HSPA14, RXFP3, KCNK9, PEX5L, KCNK10, SIAE, TOLLIP, NOX1, POLDIP2, CD160, CRTC1, WDHD1, NISCH, IRAK3, ECD, SIRT2, TBC1D9, MCF2L, COMMD3, KANK2, NCS1, CBX5, PATZ1, AMACR, SPDEF, TPSG1, RNF19A, HAT1, KLF11, H2AC17, SELE, S100A9, S100A12, CCL17, CCL22, CXCL5, CX3CL1, CXCL12, SELP, RPL29, SGSH, SI, SLC1A1, SLC1A7, SLC2A1, SLC18A1, SPP1, RPL34, BRD2, SSTR4, MAPK8, PLCB4, SERPINF2, PPARG, PRCP, PRKCD, PRKCG, MAPK3, PRNP, RAC1, PRS, PSMA2, PSMA7, PSMD13, PTGDS, PTGER3, PTPN6, SRD5A1, ST13, H2AC16, YWHAZ, NR1H2, VCAM1, VDR, VIPR2, VLDLR, WFS1, YWHAE, IL1R2, UCHL1, BRPF1, AIMP2, ARHGEF5, GLRA3, MLRL, H2AC13, H2AC15, UCN, UBE2D1, STAT1, TAL1, STAT3, STAT5A, STAT5B, VAMP7, SYN2, SYP, TACR1, TCF7L2, TSPYL1, TG, THAS, THOP1, TLR3, TPT1, HSP90B1, TRH, H3P7
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Hoarse Voice
Wikipedia
Signal processing algorithms are applied to voice recordings made during sustained phonation or during spontaneous speech. [28] The acoustic parameters which can then be examined include fundamental frequency , signal amplitude , jitter, shimmer, and noise-to-harmonic ratios. [17] However, due to limitations imposed by the algorithms employed, these measures cannot be used with patients who exhibit severe dysphonia. [28] Aerodynamic measures [ edit ] Aerodynamic measures of voice include measures of air volume , air flow and sub glottal air pressure.TUBB4A, ELN, BIN1, TBL2, KIF1B, SPEG, MFN2, KMT2B, GTF2IRD1, BAZ1B, PRKRA, SLC25A11, RNF113A, CLIP2, VHL, TTN, VAMP1, CIZ1, COQ2, SLC25A1, SIL1, GTF2H5, AGRN, MPLKIP, SYT2, MGME1, PANK2, SLC5A7, KCNK9, TWNK, TMEM127, THAP1, SDHAF2, TTC19, INPP5K, AR, SNAP25, SLC18A3, DLST, ERCC2, ERCC3, FH, DGUOK, FTL, GTF2E2, GTF2I, HSPG2, SDHD, LIMK1, MAX, CRYAB, COL13A1, EDA, MDH2, CHAT, MYO9A, POLG, RET, RFC2, RYR1, SDHA, SDHB, SDHC, ABCB6, MATR3, BMP2, CSHL1, ASAH1, SMPX, FLNC, RBPJ, TUBB3, MCL1, MS, PNN, TTR, PLF
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Childhood Obesity
Wikipedia
It is the first time in two centuries that the current generation of children in America may have a shorter lifespan than their parents. [23] Causes Childhood obesity can be brought on by a range of factors which often act in combination. [24] [25] [26] [27] [28] “Obesogenic environment” is the medical term set aside for this mixture of elements. [29] The greatest risk factor for child obesity is the obesity of both parents. ... Researchers tested the stress inventory of 28 college females and discovered that those who were binge eating had a mean of 29.65 points on the perceived stress scale, compared to the control group who had a mean of 15.19 points. [78] This evidence may demonstrate a link between eating and stress. ... Int. J. Obes. Relat. Metab. Disord . 28 (2): 282–9. doi : 10.1038/sj.ijo.0802538 . ... "Grandparents 'boost obesity risk ' " . BBC News . Retrieved 2010-04-28 . ^ "Childhood obesity risk tied to amount of work mother does lineup announced" .FTO, APOA1, CETP, APOA5, ADIPOQ, LEP, MC4R, MC3R, POMC, PPARG, LEPR, INS, FABP4, DRD2, ENPP1, ALMS1, PPARA, NMU, GPT, BDNF, APOE, ANGPTL4, ADRB3, GCG, SIRT1, FAAH, OLFM4, GNB3, IL17A, IL10, IGF1, HP, MMP9, GRN, BCL2, RBP4, TMEM18, CNR2, PON1, UCP2, UCP3, CAT, AMD1, PNPLA3, VEGFA, TST, HCP5, UCP1, SOD2, STAT3, EBP, TGFB1, SLC6A8, SLC6A4, TNF, MKKS, CTPP, RAMP2, NAMPT, HDAC4, GDF15, LRAT, ARHGEF2, SOCS3, WASF1, PER3, PDE8B, NR0B2, ACACB, RRAS2, GNPDA2, MBOAT7, STEAP4, TMEM134, LIMD2, ARID5B, MCHR2, LINC00839, NMS, SKA1, NEDD4L, GPX6, ENHO, MIR17, MIR216A, MIR27A, MIR412, RAMP2-AS1, MIR1203, KCTD15, AKTIP, HIF3A, TNMD, SH2B1, FGF21, MYCBP, FETUB, ACAD8, SFRP5, IL22, SOST, TNNI3K, ZNF771, KLF13, NLK, GHRL, TM6SF2, LRP1B, MAGEL2, RETN, SCG5, PLIN1, SCD, FDXR, CNR1, CORD1, CRP, DNMT1, DRD4, ELAVL2, FAT1, GAD2, CD69, GC, GCKR, GH1, GHR, GHSR, GIPR, GPX1, CNP, CD5L, GPX5, AQP7, ADCY3, ALB, AKR1B1, AMY1A, AMY1B, AMY1C, ANGPT1, ARSD, CALR, ATP5F1E, BBS2, BBS4, BCKDHB, BNIP3, DST, CALCR, GPX4, GYS2, SAA1, PMAIP1, OXTR, SERPINE1, PCK1, PCSK1, PEX1, PGF, ADA, MAP2K5, NUCB2, PYY, PTH, PTPRN2, PTPRS, SNORA73A, RORC, SORT1, TNFRSF11B, NPY2R, HFE, LMNA, HSD11B1, IGF2, IMPDH2, IRS1, ITIH4, KCNC2, LGALS1, LMX1B, NOS3, LPL, MEST, MMP2, MSRA, ATP6, CYTB, MTNR1B, MIR642B
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Gonorrhea
Wikipedia
Both men and women with infections of the throat may experience a sore throat , though such infection does not produce symptoms in 90% of cases. [12] [13] Other symptoms may include swollen lymph nodes around the neck. [11] Either sex can become infected in the eyes or rectum if these tissues are exposed to the bacterium. [ citation needed ] Women Half of women with gonorrhea are asymptomatic but the other half experience vaginal discharge , lower abdominal pain, or pain with sexual intercourse associated with inflammation of the uterine cervix . [14] [15] [16] Common medical complications of untreated gonorrhea in women include pelvic inflammatory disease which can cause scars to the fallopian tubes and result in later ectopic pregnancy among those women who become pregnant. [17] Men Most infected men with symptoms have inflammation of the penile urethra associated with a burning sensation during urination and discharge from the penis. [15] In men, discharge with or without burning occurs in half of all cases and is the most common symptom of the infection. [18] This pain is caused by a narrowing and stiffening of the urethral lumen . [19] The most common medical complication of gonorrhea in men is inflammation of the epididymis . [17] Gonorrhea is also associated with increased risk of prostate cancer . [20] Infants An infant with gonorrhea of the eyes If not treated, gonococcal ophthalmia neonatorum will develop in 28% of infants born to women with gonorrhea. [21] Spread If left untreated, gonorrhea can spread from the original site of infection and infect and damage the joints, skin, and other organs. ... The risk for men that have sex with men (MSM) is higher. [23] Active MSM may get a penile infection, while passive MSM may get anorectal gonorrhea. [24] Women have a 60–80% risk of getting the infection from a single act of vaginal intercourse with an infected man. [25] A mother may transmit gonorrhea to her newborn during childbirth; when affecting the infant's eyes, it is referred to as ophthalmia neonatorum . [15] It may be able to spread through the objects contaminated with body fluid from an infected person. [26] The bacteria typically does not survive long outside the body, typically dying within minutes to hours. [27] Diagnosis Traditionally, gonorrhea was diagnosed with Gram stain and culture ; however, newer polymerase chain reaction (PCR)-based testing methods are becoming more common. [16] [28] In those failing initial treatment, culture should be done to determine sensitivity to antibiotics. [29] Tests that use polymerase chain reaction ( PCR , aka nucleic acid amplification) to identify genes unique to N. gonorrhoeae are recommended for screening and diagnosis of gonorrhea infection.ERBB2, BCL6, SULT2A1, ZAP70, NR3C1, BCL2, SPG21, IRF4, SPACA9, IL6, TLR4, IL10, CD274, MME, PWWP3A, TNF, CXCL8, CFH, NOD2, GKN1, ESR1, VOPP1, LEP, CTNNB1, MET, ABCB1, GPRASP1, CD163, MTA2, SDC1, TP53, MUC16, HOXA10, CDH1, CEACAM3, C4BPA, C4BPB, THEMIS, RD3, CIB2, CKAP5, ZEB2, MIR503, SCO2, HDAC6, MPZL2, NOD1, YAP1, MCRS1, POSTN, CIB1, ATG5, AHCYL1, ARPP21, HSPH1, PPARGC1A, MALT1, MIR489, MIR451A, CKAP4, MIR377, MIR33B, MIR589, MIR371A, VPS9D1-AS1, LOC107987479, TNFAIP3, CCAT2, TP73, TTR, TXN, TYMS, NNT-AS1, UMPS, UVRAG, VDAC1, VIP, XRCC1, MIR1298, MFT2, CUL4B, PPFIA3, TP63, BECN1, URI1, APLN, SQSTM1, SOCS3, PRDM4, SIRT1, GPR182, HAVCR2, IFIH1, FRTS1, FTO, FSD1, MIR195, MIR139, ARHGAP24, FSD1L, BRSK1, HDGFL2, MALAT1, NPVF, WDR20, SOX2-OT, CDCA5, CPXM2, GSC, RASSF6, MLKL, TIGIT, IL27, ADGRF1, MIR200C, TNMD, NID2, MIR224, TFAP2E, RAI14, MIR93, IL22, FOXP3, SOST, TMEM8B, IL17D, LZTFL1, MIR23B, MIR215, CPAT1, SARS2, KIF26B, FBXW7, TLR2, INTS13, MYDGF, MIR214, MIR21, SLC12A9, IL21, ABCA4, SPP1, TGFB2, ERBB4, CYP2D6, DPYD, ATN1, TSC22D3, E2F1, TYMP, EGF, EGFR, EGR1, EMP1, DMTN, ERBB3, ERCC2, CSF3R, FDPS, FES, FKBP5, FOXF1, FOXO1, FLT4, MSTN, GLI2, GNA12, GRN, HINT1, HLA-F, CYLD, CSF3, IFNG, FOXL2, ABO, ADM, ADRB2, AFP, AGER, AHR, AMH, KLK3, ATM, CCND1, CEACAM1, PRDM1, BRCA1, CCR4, CALCR, CAT, CCND2, CD40LG, CD44, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDX2, CEACAM5, CLU, HMGB1, IGF2, TGFB1, SARS1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PTCH1, PTH, PTGS2, MOK, RAP1B, RGS3, RPE65, RRM1, CXCL12, SLC26A4, SKP2, SLPI, SNAI2, ABL1, STAT3, TAZ, ZEB1, TRBV20OR9-2, TEAD4, TFF3, TFPI, TFRC, SERPINA1, FURIN, IL2, MATN1, IL15, IL16, IL17A, ILF2, INPPL1, INSRR, IRF1, IRF2, ITGAV, JUN, KIF2A, L1CAM, MAX, NPR2, CD46, MMP8, MMP9, ABCC1, MTHFR, MTRR, MUC4, MUTYH, MYC, NDUFAB1, NFE2L2, NME1, H3P10
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Lymphoma
Wikipedia
In addition to EBV-positive Hodgkin lymphomas , the World Health Organization (2016) includes the following lymphomas, when associated with EBV infection, in this group of diseases: Burkitt lymphoma ; large B cell lymphoma, not otherwise specified ; diffuse large B cell lymphoma associated with chronic inflammation ; fibrin-associated diffuse large B cell lymphoma ; primary effusion lymphoma ; plasmablastic lymphoma ; extranodal NK/T cell lymphoma, nasal type ; peripheral T cell lymphoma, not otherwise specified ; angioimmunoblastic T cell lymphoma ; follicular T cell lymphoma ; and systemic T cell lymphoma of childhood . [28] WHO classification [ edit ] The WHO classification, published in 2001 and updated in 2008, [29] [30] is based upon the foundations laid within the "revised European-American lymphoma classification" (REAL). ... The evidence is very uncertain about the effect on anxiety and serious adverse events. [69] Prognosis [ edit ] Five-year relative survival by stage at diagnosis [70] Stage at diagnosis Five-year relative survival (%) Percentage of cases (%) Localized (confined to primary site) 82.3 26 Regional (spread to regional lymph nodes) 78.3 19 Distant (cancer has metastasized) 62.7 47 Unknown (unstaged) 68.6 8 Epidemiology [ edit ] Deaths from lymphomas and multiple myeloma per million persons in 2012 0-13 14-18 19-22 23-28 29-34 35-42 43-57 58-88 89-121 122-184 Lymphoma is the most common form of hematological malignancy , or "blood cancer", in the developed world.ATM, PRF1, BLM, WAS, BCL2, EZH2, PTEN, CDKN2A, MYD88, MLH1, SH2D1A, KRAS, LIG4, NRAS, CD274, CDKN2B, TP53, FAS, NOTCH1, MTHFR, CDK4, BRAF, TNFAIP3, SOCS1, IKZF1, RHOA, NOTCH2, JAK3, MTR, BCL11B, PON1, EPHX1, MIR143, OGG1, CDK6, MAD1L1, DOCK8, RAC2, TWF1, PTGER4, CSF3R, HMGA1, EPM2A, NFKB1, IGH, BCL10, STAT3, BCL6, MS4A1, CD19, RTEL1, MSH2, MDM2, MAGT1, NBN, CR2, DCLRE1C, RAG2, TNFRSF13B, MSH6, RUNX1, PMS2, NFKB2, ZAP70, XIAP, TNFRSF13C, ADA, RAG1, TP63, CHEK2, ITK, XRCC4, PTPN11, HLA-DRB1, HLA-DQA1, RB1, RECQL4, WIPF1, CASP10, HLA-DQB1, PRKCD, TERT, SPINK1, APC, RAD54B, PNP, DNASE1L3, ICOS, TINF2, IL2RG, NCAM1, IL6, NPM1, MCL1, IL7R, CD81, CXADR, CFTR, PARN, IL10, CD44, CD40LG, CD40, KIF11, MYC, RMRP, TNFRSF8, CSF3, PAX5, PIK3CD, PDCD1, PIK3CG, PIM1, PIK3CB, IL2, DKC1, PIK3CA, PRKAR1A, IFNG, LYST, MAPK1, MME, JAK2, HLA-DRB9, MGMT, CDKN1B, ABCB1, PGM3, PRSS1, IL4, IRF4, H3P10, TNFSF12, NR1I3, USB1, PRMT5, BMI1, TRIM13, CTC1, ZFP91, OR10Q2P, AICDA, BTK, ARHGAP24, TCL1B, PDLIM7, KRT20, RAD54L, BCR, TNFSF13B, TCL1A, WRAP53, NSUN2, ARR3, IGHV3-69-1, IGHV3OR16-7, FOXP1, SMUG1, TBC1D9, NHP2, CTRC, CCND1, NOP10, CHD7, BIRC3, MALT1, ALK, DDX41, LOC102723407, CASR, COMMD3-BMI1, TRBV20OR9-2, TNF, TP73, SPG7, MIR155, TERC, LOC102724971, CXADRP1, VEGFA, ZFP91-CNTF, AKT1, PTGS2, CARD11, CD38, CD79B, STAT5B, PTPRC, CD22, HIF1A, GZMB, TMED7, STAT5A, CD27, H3P23, TICAM2, TMED7-TICAM2, IFI27, IL15, PRL, CASP3, PSMD9, KIT, MIR17HG, PRDM1, ZNRD2, CXCR4, DCTN6, IL2RA, LGALS1, FGFR1, CTNNB1, MIR21, SOAT1, MMP9, NOS2, BRCA2, CDKN1A, REL, TGFB1, CD28, SKP2, SOX11, CXCL12, CD34, GBA, HDAC9, TIAM1, CD79A, IGF1, EPHB2, CBLL2, KMT2A, IL18, TNFSF10, ISG20, PWWP3A, MUL1, PRKN, CREBBP, NOS1, SUB1, NPR2, LYN, BCL2L11, BAX, CIB1, JUNB, RASGRP1, JUN, FCER2, CD99, NME1, LOC105379528, H2AX, MET, NR0B2, HPSE, LAIR1, XRCC1, TIA1, HSP90AA1, LMO2, CDR3, MAPK3, PTPN6, TRAF1, TRAF3, LOC390714, IL3RA, PLK1, SLC16A1, CRK, CCND3, CD70, BRCA1, ABL1, CSF2, AHI1, GCSAM, KMT2D, KLRK1, MAP3K20, ITGAM, DDIT3, JUND, POU2AF1, B2M, TNFSF13, FASLG, MTOR, FBXW7, FOS, CD47, PER2, AIMP2, TNFRSF9, CD80, UCHL1, TIMP1, NR4A1, CD1D, LINC01194, TYK2, POLDIP2, RNF19A, HLA-A, CDK2, AKT2, CASP8, SYK, SIRT1, STAT6, CASP2, FOXP3, AHSA1, TET2, GRAP2, ASRGL1, MAPK14, MUC1, LONP1, ACTB, ETS1, ESR1, CSF1R, ABCB6, HDAC6, PPARG, CTLA4, MYCN, CXCL13, KLRC4-KLRK1, EPHA7, EP300, ENO2, LAMTOR2, PDCD2, IL21R, MYB, CREB1, IL5, DNMT3A, THBS1, PDCD1LG2, STAT1, IL9, ATN1, ERVW-1, IL1B, DLL1, IDH2, IL1A, FCRL4, TCF3, ANPEP, TRG, ATRAID, NXT1, AHR, CCR4, CCR5, MCTS1, TLR7, PTPN2, CD14, BIRC5, MIR150, CFL1, LAMTOR1, CDKN2C, MAP2K1, MDM4, RPSA, CD48, S100A9, PSMB6, RAC1, TPPP2, CD74, MYDGF, CYP1A1, CDC25A, DAPK1, KIR3DL1, MTX1, SF3B6, PDGFRA, PSMB9, SLPI, SLC19A1, NAT2, PDGFRB, DHX9, TNFSF8, CHEK1, APAF1, BCL11A, CD33, ITGB2, ABCC1, CCL5, DCC, CCND2, NCR3LG1, FCGR3A, EGFR, BMP6, EIF4EBP1, CDK2AP2, WT1, XPA, EGR1, YY1, GSTT1, GSTP1, GSTM1, FLT4, GRN, MAFK, TRRAP, GLB1, PHB2, H3P12, BAK1, RPP14, ACVRL1, MRPL28, SERPING1, BCL2L1, FLI1, FLII, TNFRSF14, FOSB, ZNF197, TNFRSF10A, TLX1, HLA-G, ESR2, H3P9, MIR17, EEF1E1, H3P8, UBE2I, TYMS, MIR18A, ERBB2, CARTPT, LXN, PTHLH, CDC42, CDH13, ODC1, GNLY, LIMD1, PTPN1, HERPUD1, PLSCR4, PRLR, CDK9, CDC25B, ANXA5, ROR1, CCR7, RASGRF1, RARA, NLRP2, ALLC, BCL3, DLEC1, CCR6, CTCF, PAG1, NTRK1, NRP1, MVP, CFLAR, CDK1, TNFRSF17, BSG, PRC1, PIAS2, MARCKSL1, CLTA, SERPINA5, PPIG, TBL1XR1, RAPH1, DLC1, CXCR5, CLEC10A, CKS1B, CLTC, SERPINA1, SLC16A3, SLC16A4, ERVK-6, CEL, APOBEC3G, PML, CMA1, BACH2, IL21, CEBPA, CREBZF, MTA1, PRKCB, CDKN2D, SCYL1, WLS, RHOJ, BBC3, BCOR, TNFRSF10B, PART1, BLNK, TAL1, KDM6A, VCAM1, WEE1, MAP3K7, BRD4, CD5, ZFP36, IL22, STAT4, IGK, SST, ZBTB17, ZBTB7A, PHLPP1, ACSBG1, ATR, UCP1, REG1A, SETD2, MCAT, POLM, TPM3, HSP90B1, TLR3, TLR1, TLE1, RUNX2, TIMP2, THY1, TCHH, TRAF6, GNL3, TWIST1, IGKV3-20, TFRC, UCN, SOS1, SOD2, STAB1, SNCA, CCL3, CCL2, SATB1, SAI1, TNFSF11, COPS5, DYNLL1, S100A4, BCL2A1, HPGDS, CASZ1, HRK, RNF2, TNFRSF6B, APOE, BATF3, RET, IL24, PIM2, CCL4, CHP1, SNAP25, IL23A, NR4A3, MLLT10, NINL, CALM3, SLC2A1, IL17D, CALCA, TLR9, SELE, CALM2, SDC1, CALM1, CX3CL1, CCL17, CNR1, NAT1, GSTK1, PARP1, AFP, LBR, STMN1, LAMC2, LAG3, BTLA, DAP, KIR3DL2, KIR2DS1, TMTC3, WG, TXLNA, MIR92A1, ITGA4, IL27, SCFV, CKS1BP7, IRF7, LGALS7, HOTAIR, DNER, FN1, MUC16, CD46, MCM2, GAPDH, NLRP3, LGALS7B, RBM45, CYP2B6, LMNA, GEM, CYP2E1, SLCO6A1, RICTOR, GUCY2D, CXCL9, IL1R1, EGF, MIR19B1, IGKV@, MIR19A, E2F1, IGF2, IFNA13, IFNA1, RCAN1, HOXC5, IAPP, HRAS, HTC2, HSPA5, HSPA4, IGL, IL1RN, IRF5, HLA-DPB1, INPP5D, CXCL10, NQO1, IL13, SERPINA9, CLEC4D, HGF, DLX5, STING1, MIR203A, IL7, DNMT1, DNMT3B, MIR20A, HLA-C, FOXO1, MIR142, BMF, PARP9, ERCC2, ERCC5, NFATC1, CSNK2A2, NEDD9, NEDD8, FH, LINC02605, FGFR3, ERVK-32, EZH1, FGF2, EPAS1, GLIS2, ABO, MYCL, ERVK-20, FCGR3B, SYVN1, MRC1, FCGR2A, F9, MTAP, COX2, H3P13, MTCO2P12, NGF, COX8A, MEF2B, AMH, ADRA2B, EML4, MIR152, BMP4, SUZ12, ADRA1A, ACAP2, HS3ST2, AXL, PRAME, SEC14L2, TMEM97, ATRX, DLEU1, MIR210, ATIC, PATZ1, CBX7, MIR221, ACOX1, ISCU, TFG, MIR222, MIR223, NOMO1, MLYCD, MIR29A, MIR30A, KLF2, MIR7977, H3P19, TP53COR1, PPP1R15A, CD2AP, LOC110806263, SLC23A1, MIR187, PTPN22, MYCBP, IBTK, HSPB8, BRS3, MIR182, GREM1, PIGK, SMC4, LAT, SND1, MIR16-1, MIR200B, MIR197, NAMPT, DICER1, NOCT, SERPINC1, MIR15B, MIR15A, PRPF6, SPRY2, MIR205, CADM1, SLC23A2, SH3BP4, H3P11, EIF3K, ROR1-AS1, MIR320A, CFDP1, ATF7, IGF2BP1, SSX2B, RAB40B, CKAP4, MIR633, FAM72B, SLC27A5, GGTLC5P, IGLL5, MIR31, SOX30, NCF1, INAFM2, SMC2, RBM14-RBM4, ANXA8, UBE2C, TPPP, TMED2, IGF2BP3, ANXA8L1, GGTLC3, GNA13, GGTLC4P, FAM72A, PLK4, CD226, PLK2, HSPH1, ADM, CCR2, CXCR6, FRS2, IGF2BP2, MIR711, BCL2L2, ADAM28, GGT2, HCST, BCL2L2-PABPN1, ANP32B, P3H3, H4C15, TPX2, MIR376A1, TARP, SETX, PIM3, MSE, PARP4, KDM4C, SPART, MIR93, RBM14, RCOR1, MIR34B, MIR34A, KIR2DS2, ATMIN, SMCHD1, ERVK-18, ATF6, CORO1A, MIR494, RASSF1, BGN, PTGDR2, DCTN3, KAT5, BIK, TREX1, STK38, BAD, POU5F1P4, POU5F1P3, RRAS2, IKZF3, IKZF2, MIR193B, NXF1, SEC31A, LINC00273, VOPP1, IGKV1-5, ASS1, FOXP2, NAPRT, TIGAR, RTN4, SCGB3A1, SALL4, MTG1, APEX1, DERL3, CCDC34, DPP9, AHRR, ZNF608, HACE1, PCDH10, WDR48, CXCL16, DIXDC1, TP53INP2, HSH2D, KIF14, PCBP4, UTP3, ACKR3, DIABLO, BIRC2, ATF7IP, CCAR1, DHX32, KRT222, USE1, PBK, H4-16, C10orf90, ALOX15, CHPT1, SLAMF6, CARD16, TIRAP, SPHK2, DBA2, DUSP22, SMYD2, CMTM1, PPP1R14A, ALPI, PLEKHA2, ADGRG7, MAP3K19, CDCA7, SUV39H2, AMELX, PALB2, E2F8, MYH14, CAMKMT, NANOG, DHDDS, DOHH, CCDC51, ANXA1, FCRL5, ST6GALNAC5, RNF34, ELL3, ULBP1, FIP1L1, TRIM11, AMT, MIXL1, RTL10, HAVCR2, AIRE, RIOX2, INSM2, CPAT1, GAS5, PRDM15, KDM2B, TSPYL2, SMOC2, RNASE7, IL25, VTCN1, ALPP, HVCN1, RTN4R, SETD3, CENPM, ASCC2, ABRAXAS1, AMD1, ANXA2, PASD1, ENOSF1, RBM38, RAB7B, ARRB2, LRP12, SLC35B2, SMARCAL1, TSPAN33, ABCB5, GEMIN4, ZC3H12D, F11R, ARRB1, SGPP1, NDUFA13, RDH11, LEF1, PLEKHO1, UBR5, CYP4V2, TRPV2, ARNTL, ISYNA1, SENP1, UHRF1, KCNRG, IGHJ5, IGHV4-59, IGHV4-34, ASCL1, MIR141, IGHV3-52, MIR139, IGHV3-41, MIR127, MIR125A, MIR124-1, STS, IGLV6-57, MIR10B, UOX, JAG1, IGKV3-15, IGKV2-29, MALAT1, ASPG, PYCARD, PGP, ETV7, CTCFL, RC3H1, CLEC4C, DDX53, DDX4, OTUD4, LY6K, NKX2-3, ALOX12, PGPEP1, AQP3, C1orf56, ACSF3, PINX1, IL34, AKIRIN2, NRG4, TMEM176A, TRPV6, CACUL1, IL17RB, NRSN1, MLKL, RHOF, SIRT7, RHOH, NEAT1, NT5DC3, HDAC7, GDE1, NCR3, EEF1AKNMT, NUTM1, TTC41P, WWOX, ADA2, PIMREG, CTAG1A, RIPK4, LNX2, UNC13D, POLE3, TRIM65, KLHDC8B, CRTC2, AR, MAFB, ELANE, TELO2, MKI67, MAOA, MBL2, CX3CR1, MDK, CUX1, MECP2, MEFV, MEN1, CTPS1, MGST1, CIITA, CCN2, MIP, CTAG1B, ITGAL, FOXO4, CSNK2A1, MMP1, MMP3, MMP7, MNDA, MOS, MPL, MPO, MSH3, MST1R, CSF1, MVD, SMAD5, SMAD2, SMAD1, MAD2L1, ITGB1, EIF6, JAK1, GADD45A, ACE, DCK, KCNA3, KDR, KIR2DL4, KLRC1, KLRD1, CD55, KRT8, CYP17A1, LAMP1, LCK, LDHA, LEP, CYP3A4, LGALS3, LGALS9, LRP1, LTA, LTB, LUM, LYL1, CYP1B1, MXI1, MYBL1, CRYZ, PCM1, PCSK1, PCSK2, PDE4A, PDE4B, PDGFA, SERPINF1, PFDN5, PGF, CLU, CHGA, CHD1, CETP, PKNOX1, PLCG2, PLD2, PLG, PLXNA2, PMS1, CEBPB, POMC, POU2F2, POU5F1, PPIA, PPID, PPP1R3A, PREP, CD52, PCNA, PBX1, CRP, PAX3, ATF2, NDUFAB1, NELL1, NF1, NFATC2, CR1, NFKBIA, CPOX, COMT, CNOT2, COL11A2, COL4A3, NOTCH3, NPC1, PLK3, NSF, NT5E, OAS3, ODF1, OPCML, OPRK1, OPRM1, P2RX7, PAEP, PRDX1, PAK1, PAK2, ITGAX, ISL1, PRKDC, GGT1, FLT3, FMOD, FTH1, FYN, G6PD, XRCC6, GAS6, GATA3, EIF4A1, GCG, GCSH, GDNF, GFI1, GH1, DDX6, GH2, GJB2, GNA12, GOT2, GPI, CXCR3, GPR34, GPR42, GPX1, GPX4, GRB2, GRIA3, NR3C1, FLNB, FOXO3, FKBP1AP4, FKBP1AP3, ELF4, ENG, EPHA4, EIF5A, EIF4G2, ERBB4, ERG, ETV5, ETV6, EWSR1, F3, F8, F10, PTK2B, FAU, FBN1, EIF4E, FCGR2B, FCGRT, FES, FGF6, EIF4A2, GPC5, VEGFD, FKBP1A, FKBP1AP1, FKBP1AP2, GRM3, GSK3A, GSK3B, IRF8, ID3, ID4, IDH1, ARID3A, IFNB1, SLC26A3, DPYSL3, DPYD, IGHG3, IKBKB, DPP4, DNTT, DYNC1H1, DNASE1, CXCL8, IL9R, IL10RA, IL12A, IL12B, IL12RB1, IL17A, DES, INSM1, IRAK1, IRF1, IRF3, IRS1, ID1, ICAM3, EIF1AX, ICAM1, EGR3, HBB, HBZ, HCCS, HDAC2, HEXA, HFE, HIC1, UBE2K, HK2, HLA-B, EDNRA, S1PR1, HMBS, HMGB1, HMGB2, HMMR, HNRNPK, TLX2, HPR, HPRT1, HSF1, HSPA1A, HSPA1B, HSPA1L, HSPA2, HTR1A, CDO1, CDKN1C, SNAP91, PICALM, PAX8, CAPN1, RAB7A, CAMLG, KAT6A, RASSF7, PTP4A2, CALR, SLC7A5, COIL, TKTL1, ARID1A, H4C9, GFI1B, TTR, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, H4C2, H4C5, H4C13, H4C14, GPR65, RAE1, BTG2, LAPTM5, ZMYM2, ZNF32, TYRO3, UBC, UBE2B, SUMO1, SLC35A2, UGT1A, UCK2, UNG, UVRAG, VAV1, VCP, CASP9, VEGFC, VHL, VIM, VIP, VWF, CASP7, WNT5A, WRN, XBP1, XBP1P1, ELF3, CASP5, XRCC3, CASP1, ZFX, SLC43A1, CNTNAP1, DGKZ, SLC7A7, FCGR2C, SMC3, LPAR2, IL1RL1, SLC16A7, AURKB, C1QBP, KLF4, COX5A, BUB1B, LPXN, NCR1, ITM2B, MAP4K4, NAPSA, TBPL1, PTGES, BCAR1, CDC42BPB, APOBEC3B, NFE2L3, BUB1, SART3, BTG1, HDAC4, MTSS1, SPATA2, SLC7A6, AIP, USO1, PKD2L1, DDR1, CA12, BECN1, HYAL2, ADAM19, TNFSF14, CA9, FMNL1, TNFSF9, TNFRSF18, DLK1, TNFRSF10C, INPP4B, CES2, CCN4, HDAC3, ALKBH1, DLEU2, NR1I2, SQSTM1, MCM3AP, SGCE, MBD2, PLOD3, NOL3, MAP3K14, SOCS3, TNFRSF4, TTK, MAPK8, SCT, RIT1, CD37, RNASE3, BRD2, ABCE1, RORB, ROS1, RPE65, RPL22, RPS27A, RRBP1, RYR1, S100A8, CCL1, TSG101, CCL19, CCL20, CXCL11, SEL1L, SET, SHBG, SHH, SHMT1, PMEL, SKI, SLAMF1, SLC2A3, SLC7A4, RHEB, RGS13, RGS1, RFC1, MAP2K7, CDK7, RELN, PRTN3, PSMD2, PTGDR, PTGDS, CDH1, PTK2, PTK6, PTK7, PTN, PTPN13, PTPRA, PTPRJ, PTPRO, PVT1, RAD23B, RAD51, RAD51B, RAF1, CD68, CD59, RBL2, RBP1, OPN1LW, RELB, SLC22A2, SMARCA1, SMARCA4, CD247, CD3G, TERF1, TERF2, CD3E, TFAM, TGFA, TGFBR1, TGM2, TH, THOP1, CCNT1, TJP1, TK1, TLE2, TLE3, TLE4, KRIT1, TNFRSF1B, TOP1, TOP2A, RUNX3, TP53BP2, CBFA2T3, NR2C2, TRAF2, CAT, TSN, TRGC1, TRB, SUMO3, TCP1, SUMO2, FSCN1, SNRPN, CD9, SPIB, CD8B, SPINK2, SPN, SPP1, SPTA1, SRC, SRI, TRIM21, SSB, SSTR4, SSX2, ST14, STAT2, CD8A, CD6, SULT1E1, STK4, AURKA, STXBP2, TAT, CNTN2, ZEB1, XPO1
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Mastitis
Wikipedia
Course and prognosis are also very similar to age matched controls. [27] [28] However diagnosis during lactation is particularly problematic, often leading to delayed diagnosis and treatment. ... PMID 21997989 . , p. 1684 ^ Silberman H, Silberman AW (28 March 2012). Principles and Practice of Surgical Oncology: A Multidisciplinary Approach to Difficult Problems .CXCR2, TLR4, TLR2, SLC9A6, IL6, TNF, IFNG, NLRP3, IL1B, TGFB1, PTX3, ANGPTL2, LYZ, CXCL8, PLA2G1B, MIR223, MIR15A, SCD, RPS6KA3, RASGRP1, SAG, RGS6, MAP4K4, SET, CXCL12, DGAT1, CAVIN2, YWHAZ, TP53, TNFRSF1B, CCL4, CD163, A2M, SPINK5, PHB2, DEFB103A, MIR182, MIR155, MIR142, MIR122, PLB1, CYP2R1, ZC3H12A, PAGR1, SIL1, SIGIRR, DEFB103B, CRLS1, SIRT7, ANGPTL3, TNFRSF21, PLA2G2D, AMACR, UFL1, RASA1, PLG, PPBP, FGF2, HMGB3, HMGB1, NR3C1, B4GALT1, GALNS, GABPA, GAST, MTOR, FGF12, SLC26A2, HSPA5, DOCK3, CYP24A1, CYP1A1, CSF3, CRP, COL1A1, CD14, CFB, ALCAM, HMOX1, ICAM1, MED1, LTF, PPARG, ABO, PKD1, PEBP1, NHS, NFE2L2, NCF4, RNR1, MPO, LRP5, IL1A, LPO, LPL, JAK2, ITIH4, ITGAM, IRAK2, IL17A, IL6R, IL2, SFTPA1
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Arrhythmogenic Cardiomyopathy
Wikipedia
ACM genetic testing is clinically available. [28] Diagnostic criteria [ edit ] There is no pathognomonic feature of ACM. ... An autopsy later revealed the disease to be the likely culprit. [35] [36] Sevilla FC and Spanish international left wing-back Antonio Puerta died from the condition, at the age of 22, on 28 August 2007, three days after suffering several cardiac arrests, while disputing a La Liga game against Getafe CF . [37] [38] Englishman Matt Gadsby also died from the condition after collapsing on the pitch on 9 September 2006, while playing for Hinckley United in a Conference North game against Harrogate Town . [39] [40] Suzanne Crough , an American child actress best known for her role on The Partridge Family , died suddenly from the condition in 2015 at age 52. [41] James Taylor English international cricketer, retired April 2016. [42] Krissy Taylor , an American model, died on July 2, 1995 in the family home in Florida.PKP2, RYR2, SCN5A, PPP1R13L, TMEM43, DSC2, DSG2, DSP, JUP, DES, LMNA, CTNNA3, DSG2-AS1, ACTN2, TGFB3, ARVD3, PLN, TTN, CTNNB1, MYBPC3, PPARG, GJA1, FLNC, CDH2, MYH7, PIK3CG, ISL1, TGFB1, EBI3, AKAP6, IL18R1, ERVK-15, TP63, HCN4, UVRAG, GJC1, HACD1, OBSCN, CELF1, MIR494, CELF2, CKAP4, LDB3, TPM1, MIR135B, ANKRD1, MIR21, ISM2, PRKAG2, PERP, GNPTAB, MMRN1, AAVS1, TJP1, MEF2C, ARVD4, CEBPA, ACE, ELAVL2, ESRRB, FABP4, FASN, GAPDH, GFAP, GJA5, GSK3B, KCNQ1, MET, STRN, PIK3CA, PIK3CB, PIK3CD, PLEC, PPARA, PRB1, PRKG1, REN, RPE65, RYR1, SCN10A, SLC8A1, KDM5A
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Transmissible Spongiform Encephalopathy
Wikipedia
Evidence for this hypothesis is as follows: Incubation time is comparable to a lentivirus Strain variation of different isolates of PrP Sc [28] An increasing titre of PrP Sc as the disease progresses suggests a replicating agent. ... "Sacred disease of our times: failure of the infectious disease model of spongiform encephalopathy" . Clin Invest Med . 28 (3): 101–4. PMID 16021982 . Retrieved 2011-06-20 . ^ Digesta Artis Mulomedicinae , Publius Flavius Vegetius Renatus ^ Brown P, Bradley R; Bradley (December 1998). "1755 and all that: a historical primer of transmissible spongiform encephalopathy" . ... "Sacred disease of our times: failure of the infectious disease model of spongiform encephalopathy" . Clin Invest Med . 28 (3): 101–4. PMID 16021982 . Retrieved 2011-06-20 . ^ Manuelidis L, Yu ZX, Barquero N, Banquero N, Mullins B; Yu; Banquero; Mullins (February 2007).PRNP, CX3CL1, CX3CR1, SNCA, CLU, MARK4, LINC02210-CRHR1, TOMM40, CARD14, MS4A4A, CHN2, ABCB6, ABCA7, RPS4XP2, PRDX2, PPP1R12B, CCDC62, CD2AP, SLC2A13, C4BPA, BST1, LINC02210, MS4A4E, BLOC1S3, C9orf72, ANK3, EPHA1-AS1, GH1, MAPT, CSF2, LAMC2, PRKN, APP, APOE, SOD1, HECTD2, CBLL2, MUL1, PDIK1L, NEFL, LINC01672, IGFALS, HSPA4, TNF, SPRN, MGRN1, GSS, AHSP, IL6, IL1B, IAPP, SERPINA3, GPI, ADAM10, FXN, SMUG1, MMRN1, SARM1, CHN1, SIRT3, CABIN1, CFH, CHI3L1, PRND, SEC61A1, CFL1, CD44, GDE1, TPPP, STMN2, XAF1, YWHAQ, STIP1, HPSE, CHRM1, PLK3, RABEPK, EDIL3, DNM1L, CR1, CST7, BAG6, CR2, EGLN1, FKBP10, CD40LG, CXCR5, ACHE, SNORD3A, ACTB, MIR342, MIR21, AKT1, PLCXD3, APCS, NEGR1, CALHM1, AQP1, AQP4, BRCA2, THY1, LRFN5, CPNE8, C5AR1, SIRPA, NLRP3, CASP1, CD9, CD14, AKT1S1, MINDY4, CD28, CD40, TLR2, TGFB2, TGFB3, HIF1A, P4HB, OGG1, NGF, NFKB1, NFE2L2, EGFR, ERBB2, MTR, MKLN1, MFGE8, MBP, FANCD2, LGALS1, LAMA3, LAG3, KARS1, IRF3, CXCL8, GFAP, GLS, IL1A, IFNAR1, IFN1@, PDIA3, HSPD1, HSPA5, GSN, DECR1, PDCD1, PDK1, RARB, CRYAB, ADAM17, HSPA13, SP1, SOD2, CSF1R, SNCG, CTSD, SNCB, SLC1A3, CYBB, RYR2, PVALB, PIK3CA, PTGS2, PSEN1, RELN, DAB1, PRKAB1, PRKAA2, PRKAA1, PPIA, PIN1, PIK3CG, PIK3CD, ABCA1, PIK3CB
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Friedreich Ataxia
Gene_reviews
A study of 158 individuals with FRDA revealed lower urinary tract symptoms in 82% with impact on quality of life in 22% of those [Musegante et al 2013]. Of 28 who underwent urodynamic studies, all had normal serum creatinine and four had upper urinary tract dilatation. ... Impairment of inhibition and cognitive flexibility was identified in individuals with FRDA on the Haylings Sentence Completion Task [Corben et al 2017]. Bone mineral density. A study of 28 individuals with FRDA identified that six (21.4%) had reduced bone mineral density for age in at least one site assessed [Eigentler et al 2014].FXN, NFE2L2, PIP5K1B, ATXN1, GABPA, DLD, EPO, CTCF, PPARGC1A, FTMT, GPAA1, ISCU, APTX, SETX, KIF1B, AHSA1, COG5, AGTR1, MFN2, PCLAF, CRTC1, TJP2, GRAP2, PDLIM1, HDAC3, AIMP2, CIR1, RNF19A, SIRT3, CHMP1B, VTRNA2-1, MIR323A, MIR155, C16orf82, CTCFL, HAMP, JPH3, SLC17A7, ATXN10, TWNK, RNF126, GLRX5, PYCARD, MLH3, POLDIP2, VIM, USP7, TP53, TYMS, TTPA, LY6E, LPA, KCNJ5, KCNC3, IFNG, IFNB1, HSPA9, HFE, GAA, ATN1, TIMM8A, CSF3, MAPK14, CRK, CD34, CASP3, CACNA1A, ATXN3, MLH1, NCF2, SPG7, APOA1, TNNT2, TNNT1, TFRC, TFPI, TEAD1, SRF, ATXN2, PDYN, S100A4, PVALB, PTGS2, MAPK1, PPP2R2B, PPARG, POLG, FTX
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Creutzfeldt–jakob Disease
Wikipedia
No cases of health care associated transmission of CJD have been reported subsequent to the adoption of current sterilization procedures, or since 1976. [26] [27] [28] Copper - hydrogen peroxide has been suggested as an alternative to the current recommendation of sodium hydroxide or sodium hypochlorite . [29] Thermal depolymerization also destroys prions in infected organic and inorganic matter, since the process chemically attacks protein at the molecular level, although more effective and practical methods involve destruction by combinations of detergents and enzymes similar to biological washing powders. [30] Blood products [ edit ] As of 2018, evidence suggests that while there may be prions in the blood of individuals with vCJD, this is not the case in individuals with sporadic CJD. [4] Diagnosis [ edit ] Testing for CJD has historically been problematic, due to nonspecific nature of early symptoms and difficulty in safely obtaining brain tissue for confirmation. ... Medical procedures that are associated with the spread of this form of CJD include blood transfusion from the infected person, use of human-derived pituitary growth hormones, gonadotropin hormone therapy, and corneal and meningeal transplants . [50] [51] [52] Variant Creutzfeldt–Jakob disease (vCJD) is a type of acquired CJD potentially acquired from bovine spongiform encephalopathy or caused by consuming food contaminated with prions . [50] [53] Clinical and pathologic characteristics [54] Characteristic Classic CJD Variant CJD Median age at death 68 years 28 years Median duration of illness 4–5 months 13–14 months Clinical signs and symptoms Dementia; early neurologic signs Prominent psychiatric/behavioral symptoms; painful dysesthesias ; delayed neurologic signs Periodic sharp waves on electroencephalogram Often present Often absent Signal hyperintensity in the caudate nucleus and putamen on diffusion-weighted and FLAIR MRI Often present Often absent Pulvinar sign-bilateral high signal intensities on axial FLAIR MRI . ... Infectious Diseases Epidemiology & Surveillance – Department of Health, Victoria, Australia Archived 2015-06-28 at the Wayback Machine ^ Reporter, Natasha Wallace Health (15 April 2008).PRNP, KRT73, KLRC2, ATF6, HLA-DQB1, H4C4, SRD5A3, TUBB2A, MSL3P1, CPED1, SNORD3A, ALDH1A1, SNORA16B, MTMR7, CARD14, PLCXD3, MAPT, SERPINF2, RGS7, C4BPA, APOE, ABCB6, GH1, PRDX2, SNCA, CSF2, LAMC2, GFAP, PRND, SPRN, ENO2, CTSD, AQP1, AQP4, CHI3L1, APP, RASA2, NES, CST7, SUCLA2, TSHZ1, YWHAH, DHX16, RAB7A, GRAP2, RARB, PTGS2, ATXN2, S100B, AIMP2, OPTN, RAB9A, ACHE, AHSA1, YWHAQ, LINC01672, FAS-AS1, MT1IP, ZBTB38, CBLL2, PRNT, HECTD2, TMEM171, MINDY4, ZIC4, MAGT1, MUL1, MARK4, ALG1, TREM2, PTGS1, AATF, POLDIP2, RNF19A, BACE1, STMN2, AHSP, NRGN, RELN, CD68, GRN, GPI, CYBB, MAPK14, CRYAB, CRK, ATF2, CREB1, CHIT1, CHGB, CHGA, CFTR, CD47, HSPA4, CBS, CASP3, TSPO, BMP5, BMP4, ATF4, ARF1, AMT, ALPP, ALPI, ALB, AIF1, HTT, IAPP, EIF2AK2, MT1X, MAPK3, MAPK1, ABCB1, PGAM1, PRKN, ADAM10, NPAS2, NEFL, MTNR1A, COX2, COX1, MT3, MT1L, IL1A, MT1M, MT1JP, MT1H, MT1G, MT1F, MT1E, MT1B, MT1A, MDH1, MBP, LY6E, IL1B, MTCO2P12
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Immune Thrombocytopenic Purpura
Wikipedia
Designated an orphan drug in 2003 under United States law, clinical trials demonstrated romiplostim to be effective in treating chronic ITP, especially in relapsed post-splenectomy patients. [26] [27] Romiplostim was approved by the United States Food and Drug Administration (FDA) for long-term treatment of adult chronic ITP on August 22, 2008. [28] Eltrombopag (trade name Promacta in the USA, Revolade in the EU) is an orally-administered agent with an effect similar to that of romiplostim. ... Current Medicinal Chemistry . 11 (5): 607–28. doi : 10.2174/0929867043455846 .FCGR2C, ADAMTS13, CTLA4, MS4A1, FOXP3, CD19, ICOS, TNFRSF13B, STAT3, FAS, STAT1, TNFRSF13C, KRAS, TPP2, KMT2D, GALC, RFXANK, ZAP70, KDM6A, FCGR2A, TNFSF12, ARHGEF1, RASGRP1, RFX5, THPO, TPO, IL4, CIITA, MPL, IL10, NFKB1, IL7R, NFKB2, PNP, TNF, NRAS, PRKCD, IFNG, ACP5, RFXAP, SMPD1, CR2, FCGR3A, ITGA2B, ADA, CASP10, CD81, FASLG, IL2, TNFSF13B, IL18, IL17A, IL1B, IL22, IL21, DNMT3B, IL6, FCGR2B, TGFB1, HLA-DRB1, ITGB3, HAVCR2, LTA, IL17D, ISG20, ABCB1, GP1BA, CD86, IL17F, IL1RN, CD40, FCGRT, KRT20, IL27, IL2RA, IL11, CXCL12, SELP, RBM45, HT, NCAM1, PRB2, HPSE, HLA-A, CD40LG, NR3C1, GP9, MSC, FCGR1A, GP6, SYK, FCGR1B, IL18BP, GATA3, CD72, CD274, CSF2, CXCR4, PTPN22, ACSBG1, IL37, LEP, KIR2DS2, KIR3DL2, KIR3DL1, CXCL13, KIR2DL2, MIR146A, NOTCH1, MBD4, IL23R, IGHV3-69-1, IGHJ4, TNFSF13, NLRP3, PDCD1, VWF, IL33, PTEN, RAPH1, CCL2, IL23A, MYDGF, ABO, TNFRSF17, FCGR3B, CD44, IL1A, CD47, APOH, CXCR3, GATA2, CD69, CDKN2B, HES1, HOXD13, GZMB, GEM, CNR2, CRP, CD34, HLA-DOA, DNMT3A, CXCL10, CD38, RUNX3, TRDV3, TRDV2, RUNX1, CLEC1B, TRDV1, CD28, TBX21, NXT1, PYCARD, ENTPD1, MBL3P, DLL1, JAK2, IGHV3OR16-7, IGHJ6, CCR6, OPTN, TSHZ1, TCIRG1, IKZF1, SEMA4D, ATG7, ANP32B, MRPL28, CXCR6, CCR5, IGHV4-28, MALT1, SUB1, CCR3, CUL9, TBC1D9, CD70, HAVCR1, CD68, CASP3, RTEL1, MEG3, CAMP, TRIT1, MIR212, MIR221, MIR33A, MIR99A, MIR382, MIR409, ADAM10, MIR92B, CARMN, CCR2, MIR765, ACTN1, MIR1185-2, MIR3162, MIR3125, MICA, COMMD3-BMI1, IFNG-AS1, LOC102723407, GATD3B, LOC102724971, UPK3B, MTCO2P12, MIR200C, MIR195, MIR183, BCL2, SCAMP2, BMI1, CXCL16, CXCR5, HPSE2, CARD9, BID, GGCT, TRPM8, BCL6, CDCA5, ADRB3, STS, AR, DNMT3AP1, ANXA1, AHCY, JAG1, MIR106B, MIR125A, MIR130A, MIR142, CX3CR1, F2RL3, SCAMP1, MAPK1, NELL1, CXCL8, IL5, IL4R, NOTCH2, IL2RB, IL1R1, SERPINE1, IKBKB, IGH, MAPK8, SELE, IFNB1, PTGS1, PTGS2, PTPRC, RHD, ROS1, S100A8, HOXB4, CCL11, CCL18, IL9, NAP1L1, MYH9, COX2, KIR2DL3, KIR2DS1, KIR2DS3, KIR2DS5, IRF4, INSRR, KLRD1, IDO1, LGALS9, IL16, SMAD7, MAP6, MBL2, MDM2, IL12A, MIF, MMP9, MNAT1, IL10RA, MRC1, COX1, HOXA5, HLA-DRB3, CD83, FCN2, GATA4, RNF112, FKBP5, EOS, ARHGEF5, FGF2, CDR3, GATD3A, GFI1B, IKBKG, FCER1G, SIAH2, NRP1, CDK5R1, VNN1, TIMELESS, BCL10, EPHB2, MBD2, ITGA2, DECR1, DDX5, VEGFA, VDR, GCHFR, TNFRSF4, SLC7A4, HLA-DPB1, TRIM21, RO60, HLA-B, STAT4, HIF1A, TBXT, TRBV20OR9-2, TRGV1, TRGV2, TG, THBD, GRN, TIMP3, TLR4, TNFAIP3, TP53, GP5, TRAF6, TNFSF4, H3P9
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Phenylketonuria
Wikipedia
They are known as HPABH4A, HPABH4B, HPABH4C, and HPABH4D. [28] Metabolic pathways [ edit ] Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of tetrahydrobiopterin (new variant subtype) utilized in the first step of the metabolic pathway. ... PMID 24667081 . ^ "Phenylketonuria (PKU) Test" . HealthLink BC . Retrieved Aug 28, 2020 . ^ Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, et al. ... Archived from the original on 2015-03-07. ^ "Phenylketonuria" . nhs.uk . Oct 19, 2017 . Retrieved Aug 28, 2020 . ^ "Foods highest in Phenylalanine" . self.com . ... S2CID 21446773 . ^ a b c d e "PKU: Closing the Gaps in Care" (PDF) . Retrieved Aug 28, 2020 . ^ "Philippine Society for Orphan Disorders – Current Registry" . psod.org.ph .PAH, QDPR, G6PD, CAT, HNF1A, NEFH, PTS, LRIT1, SHCBP1, PAM, PRDM6, CACNA1A, PELI1, TTR, DMD, LAT, SPR, GCH1, MBP, SLC7A5, TH, GRAP2, SART3, BEST1, AIMP2, OLFM1, TBX1, SOD1, FARP2, PART1, AHSA1, SDS, TPX2, SLC3A2, RNF19A, MMACHC, POLDIP2, SND1, SLC38A7, NIF3L1, ASCC2, COL25A1, NAGS, SLC6A19, MCCD1, SLC22A5, ACADM, PMEL, SAA1, GRM5, GFAP, GCHFR, FN1, NQO1, DECR1, CUX1, MAPK14, CRP, CRK, CNP, CGA, ATR, ASS1, APP, HBB, MAOB, NBN, PGM1, RET, REN, ALB, PTH, MAPK1, POLG, PCNA, NFKB2, PCBD1, PAEP, OXCT1, OTC, OAS3, NME1, NCF1
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Leber Optic Atrophy
Omim
The probability of visual recovery also varies in relation to the mutation, with only 4% of np 11778 patients showing recovery an average of 36 months after onset; 22% of np 3460 patients recovering after 68 months; 28% of np 15257 patients recovering after 16 months; and 37% of np 14484 patients recovering after 16 months (Newman, 1993; Newman et al., 1991; Johns et al., 1993). ... This mutation is consistently homoplasmic, changes a highly conserved aspartate to an asparagine, has a penetrance in males of 72%, and a probability of visual recovery of 28% (see Table M1, MIM12) (Johns et al., 1993).ND6, ND1, ND4, ND5, ND4L, ATP6, CYTB, COX3, ND2, RPE65, NDUFS2, COX1, IL1B, IL1A, LRAT, CPLX1, OPA1, TBC1D24, PARL, OPA3, CEP290, NDUFA1, CRYZ, FXN, MFN2, PLXNA2, NPTX2, SOD2, RP2, SPG7, RPGR, TAP2, SCN1A, TFPI, TFAM, ABCA4, TK2, TWNK, GGT2, POTEF, GGTLC3, GGTLC5P, SLC26A5, GLIS3, GMCL2, GMCL1, RPGRIP1, ADI1, TP53, NDUFB11, YARS2, GCA, AIPL1, KIF1B, IMMT, OPTN, COX5A, PHLDA2, POLG, RNR2, SERPINA1, PGD, ERG, EPHX1, ENO2, ENDOG, TIMM8A, ACE, CPOX, COX8A, CAT, CASP3, BNIP3L, BNIP3, AR, AQP4, AMD1P2, AMD1, AKR1B1, ESR2, GGT1, GCLC, MAS1, TRNK, TRNF, ACTB, RNR1, MTHFR, COX2, TRNC, MAPT, GRIA1, TACSTD2, KRT10, HLA-B, HLA-A, GSR, GRM2, GRIA2, GGTLC4P
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X-Linked Severe Combined Immunodeficiency
Wikipedia
Newborn screening of X-SCID based on TREC count in dried blood samples has recently been introduced in several states in the United States including California, Colorado, Connecticut, Delaware, Florida, Massachusetts, Michigan, Minnesota, Mississippi, New York, Texas, and Wisconsin. [20] In addition, pilot trials are being performed in several other states beginning in 2013. [21] Treatments [ edit ] Treatment for X-linked SCID can be divided into two main groups, the prophylactic treatment (i.e. preventative) and curative treatment. [22] The former attempts to manage the opportunistic infections common to SCID patients [22] and the latter aims at reconstituting healthy T-lymphocyte function. [23] From the late 60s to early 70s, physicians began using "bubbles", which were plastic enclosures used to house newborns suspected to have SCIDS, immediately after birth. [24] The bubble, a form of isolation, was a sterile environment which meant the infant would avoid infections caused by common and lethal pathogens. [24] On the other hand, prophylactic treatments used today for X-linked SCID are similar to those used to treat other primary immunodeficiencies . [23] There are three types of prophylactic treatments, namely, the use of medication, sterile environments, and intravenous immunoglobulin therapy (IVIG). [23] First, antibiotics or antivirals are administered to control opportunistic infections, such as fluconazole for candidiasis, and acyclovir to prevent herpes virus infection. [25] In addition, the patient can also undergo intravenous immunoglobulin (IVIG) supplementation. [26] Here, a catheter is inserted into the vein and a fluid, containing antibodies normally made by B-cells, is injected into the patient's body. [27] Antibodies , Y-shaped proteins created by plasma cells, recognize and neutralize any pathogens in the body. [28] However, the IVIG is expensive, in terms of time and finance. [29] Therefore, the aforementioned treatments only prevent the infections, and are by no means a cure for X-linked SCID. [23] Bone marrow transplantation (BMT) is a standard curative procedure and results in a full immune reconstitution, if the treatment is successful. [30] Firstly, a bone marrow transplant requires a human leukocyte antigen (HLA) match between the donor and the recipient. [31] The HLA is distinct from person to person, which means the immune system utilizes the HLA to distinguish self from foreign cells. [32] Furthermore, a BMT can be allogenic or autologous, which means the donor and recipient of bone marrow can be two different people or the same person, respectively. [31] The autologous BMT involves a full HLA match, whereas, the allogenic BMT involves a full or half (haploidentical) HLA match. [33] Particularly, in the allogenic BMT the chances of graft-versus-host-disease occurring is high if the match of the donor and recipient is not close enough. [32] In this case, the T-cells in the donor bone marrow attack the patient's body because the body is foreign to this graft. [34] The depletion of T-cells in the donor tissue and a close HLA match will reduce the chances of graft-versus-host disease occurring. [35] Moreover, patients who received an exact HLA match had normal functioning T-cells in fourteen days. [36] However, those who received a haploidentical HLA match, their T-cells started to function after four months. [36] In addition, the reason BMT is a permanent solution is because the bone marrow contains multipotent hematopoietic stem cells [30] which become common lymphoid or common myeloid progenitors. [37] In particular, the common lymphoid progenitor gives rise to the lymphocytes involved in the immune response (B-cell, T-cell, natural killer cell). [37] Therefore, a BMT will result in a full immune reconstitution but there are aspects of BMT that need to be improved (i.e. ... PMID 16988660 . ^ a b Cavazzana-Calvo, M. (28 April 2000). "Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease".IL2RG, IL4, IL2, IL15, IL7, CD34, LINC02605, JAK3, IL9, EBI3, IL18R1, ADA, LMO2, GH1, IL21, BTK, CD40, IL7R, FUT1, IL22, TBC1D9, CORO1A, AICDA, DCLRE1C, DLL4, MTA2, AAVS1, CDR3, WAS, TRBV20OR9-2, ABCB1, PGK1, IL13, GHR, ATN1, CD40LG, AR, JAK1
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Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Omim
Deschauer et al. (2005) provided a review of the myopathic form of CPT II deficiency. In their series of 28 patients, exercise-induced myalgia was the most common symptom (96% of patients), whereas myoglobinuria was not found in 21% of patients.
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Otof-Related Deafness
Gene_reviews
., the 70% with nonsyndromic hearing impairment) segregate deafness-related variants in GJB2 [Smith et al 2005]. Variants in 28 genes (including OTOF ) have been implicated in congenital autosomal recessive nonsyndromic deafness Other nonsyndromic hereditary auditory neuropathies include the following: DFNB59, autosomal recessive auditory neuropathy caused by variants in PJVK , the gene encoding the protein pejvakin [Delmaghani et al 2006, Schwander et al 2007] Autosomal dominant auditory neuropathy caused by variants in DIAPH3 , the gene encoding protein diaphanous homolog 3 OTOF deafness-related variants are extremely unlikely in a child with severe-to-profound hearing loss in only one ear and electrophysiologic responses consistent with auditory neuropathy.
- Pfeiffer Syndrome Wikipedia
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Complement Deficiency
Wikipedia
One of the most common mutations deletes 28 DNA nucleotides from the C2 gene.C7, CFD, MASP2, C4A, C5, C6, C2, SERPING1, C9, CFI, CFH, CFHR1, CFHR2, CFB, CFP, THBD, FCN3, CFHR4, CFHR3, CD46, CFHR5, CD55, CD59, C1QA, C1QB, C1QC, C1R, C1S, C3, C4B, C8A, C8B, C8G, SLC7A7, DNASE1L3, MTA2, IL1RN, IL1B, IL1A, TRIM21, CALR, ACE
