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Human Genetic Enhancement
Wikipedia
These genetic enhancements may or may not be done in such a way that the change is heritable (which has raised concerns within the scientific community. [2] Contents 1 Gene therapy 2 Disease prevention 3 Gene doping 4 Other uses 4.1 Physical appearance 4.2 Behavior 5 See also 6 References Gene therapy [ edit ] Further information: Gene therapy Genetic modification in order to cure genetic diseases is referred to as gene therapy .
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Chronic Traumatic Encephalopathy
Mayo_clinic
This happens because injuries to nerve cells that conduct electrical impulses affect communication between cells. It's possible that people with CTE may show signs of another neurodegenerative disease, including Alzheimer's disease, amyotrophic lateral sclerosis (ALS), Parkinson's disease or frontotemporal lobar degeneration, also known as frontotemporal dementia.
- 5α-Reductase Deficiency Wikipedia
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Shprintzen-Goldberg Craniosynostosis Syndrome
Omim
Three of them showed bowing of long bones (with a variable degree of progression over time), flare of the metaphyses, a large anterior fontanel with persistent patency into the second to fourth years of life, 13 pairs of ribs, distinct vertebral abnormalities that were absent neonatally but evolved by the second year of life, and progressive osteopenia. Communicating hydrocephalus was present in all 4 cases.SKI, FBN1, TBX1, DGCR, KIFBP, HIRA, COMT, CHD7, DGCR6, DGCR8, DGS2, DGCR2, CDC45, ZNF74, SLC25A1, TGFBR2, PRODH, TBX5, UFD1, HTC2, CRKL, DGCR5, FOXN1, SCZD12, MIR185, MIR132, NKX2-6, CPO, PRDM9, NAAA, APOL1, GNB1L, CELF2, SETBP1, CECR2, TCL6, ARSA, ZAP70, TGFBR1, CD27, CHRNA7, MAP3K8, CTNNB1, EDN1, ELN, EYA1, GATA3, IL2, LAMC1, SMAD2, SMAD4, MMP9, SEPTIN5, RAC2, RANBP1, RPS6KB2, SLC7A4, SULT1E1, BMP4, TBX3, CECR7
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Meningioma
Mayo_clinic
Other people with meningiomas can offer a unique perspective, so consider joining a support group — whether it's in your community or online. Ask your health care team about brain tumor or meningioma support groups in your area, or contact the American Brain Tumor Association.NF2, AKT1, BAP1, SMARCB1, PDGFB, SMARCE1, PTEN, SUFU, MLLT10, WRN, PGR, SMO, TRAF7, KLF4, HES1, CST3, CSTB, CTSL, ALAD, PIK3CA, ARMC5, DNMT1, CHEK2, NF1, KRIT1, CCM2, MIB1, SEC23B, TERT, MN1, MKI67, SDHD, MMP9, VEGFA, CDKN2A, GNAS, TP53, PDCD10, NTHL1, EPB41L3, KLLN, ESR1, EGFR, SDHB, SST, SDHC, LMNA, ERBB2, LOC110806263, SSTR2, EGF, MMP2, STAT3, PIK3CB, CTNNB1, IGF2, PIK3CD, PIK3CG, CD274, AZIN2, MEN1, PLAU, TP73, GADL1, CTSB, CASP3, MTHFR, TIMP1, PTGS2, ARHGAP24, IL6, FGF2, MGMT, MTOR, NDRG2, MIA2, MB, HTC2, GSTT1, MDM2, H3P10, MAPK1, TGFA, TIMP3, ABCB1, CCND1, CD44, BCL2, MAPK3, S100B, AQP4, CASP8, APC, ACKR3, MEG3, BCR, MCM7, PRDM2, XRCC1, TOP2A, HOXA9, CDKN2C, EDN1, SPP1, ATM, IGF1, ASL, PTPRJ, AQP1, LEPR, HPGDS, MIR29C, TNC, TGFB1, S100A1, PLAUR, ODC1, PCNA, SFRP1, ACTB, CDH1, FOS, AP1B1, PDGFRB, MYC, MTRR, CD34, EPHB2, PLG, TGM2, GSTP1, TIMP2, SPARC, HIF1A, TXNIP, IL1B, CCL2, IGFBP5, GNRH1, EEF1E1, GSTM1, CXCL12, PTTG1, YAP1, SLC9A3R1, DLC1, RAD54L, RPS6KB1, RB1, NR3C1, MAFK, KDR, MYCN, PON1, POLR2A, MSH2, VIM, COX2, MUC1, IGF2BP1, RAC1, UBE2I, UBE2D1, PDCD1, NOS2, NOTCH1, NOTCH2, THBS1, KMT2A, MLH1, MIF, PTGDS, TAT, XRCC3, STAT6, YWHAZ, CXCR4, MCM2, PTN, SMAD4, PTX3, LGALS3, STMN1, LAMC2, GJA1, ZNF197, GFAP, ATRAID, CADM1, BSG, ERBB3, CA9, CTAG1A, CAV1, CCK, CCND2, TPPP2, EIF4A2, CD68, PRAP1, EDNRB, LAMTOR1, MIR200A, TCHP, DCC, CDKN2B, CYP2D6, CXCL16, MINDY4, CFL1, CKS2, CTAG1B, CXCR6, WNK2, CSF2, CD276, BRCA1, EPB41, H3P12, AHR, FOXM1, FAS, FGF9, AP2B1, AR, ALPL, BIRC5, ANPEP, MIR224, FGFR3, ETV6, MIR219A1, RASSF1, MTCO2P12, DOT1L, TNF, MIR205, CLDN5, MAK16, TRP-AGG2-6, SLC25A21, TLR4, DPP9, PGR-AS1, BRIP1, LINC02210-CRHR1, TYMS, CAMKMT, H3P47, KCNH6, MAP1LC3B, SMARCA1, H3P9, TYK2, TTR, MNS16A, TXNRD1, SESN2, TXN, HIRA, TLE3, FSCN1, MTDH, NEK9, TCF12, TUBB, MIR34A, C10orf53, H19, TDO2, TCN2, ZEB1, ZBTB7C, TCEA1, ZAR1, LINC01194, MIR145, MIR21, MIR190A, TGFB3, MIR335, TJP1, SOX10, SOAT1, FAT3, SOD3, RBM45, NKX2-1, PLB1, CBLL2, THY1, TMEM30B, TRPV3, SP100, IDO2, DHFR2, RHBDF2, UCHL1, VHL, MUL1, PART1, CD163, SRRM2, TSPAN12, SMUG1, SRSF11, SNHG1, LARGE1, KIF4A, CLDN1, AIP, PPM1D, PROM1, CFLAR, EGFL6, IL18R1, ADAM23, TNKS, TP63, PSMG1, LGR5, RPL13A, ADIPOQ, SYNM, SEC31A, MRPL28, OGA, NES, SUB1, RALBP1, MSLN, PMEL, UBE2C, EBI3, CORO1A, KIF20A, PPIF, TSPAN2, DNM1L, ABCC5, HNRNPDL, KIF14, PIEZO1, AKAP12, LMO4, TIPARP, UCN, VSIR, NDC1, DIABLO, PNO1, XDH, ADAMTSL3, TXNDC16, WT1, TRPV4, LRRC4, TRPV1, RASAL1, PDLIM2, VIP, MMP25, EZR, NDRG4, MLPH, HMGN5, VDR, VDAC2, SMG8, YY1, DPP8, ARID4B, TAGLN2, PLA2G6, DKK3, RBMS3, TMEM97, AXIN1, SETD2, ARID1A, NXT1, RACGAP1, CLTCL1, TCL1A, PSCA, BICRA, TFPI2, KCNIP3, EXOSC3, PLA2G7, WWOX, SIX1, A1BG, SGK1, GH1, EIF4A1, EDNRA, DVL3, DUSP2, DSP, DRD1, DPP4, DMD, DHCR24, DEFB1, DEFA5, DDX3X, GADD45A, DCX, DCT, CD55, DAB2, CYP19A1, CYP1B1, CYP1A1, CYC1, CXADR, CX3CR1, CTLA4, CCN2, VCAN, CSF3, EIF4E, EIF4G1, EIF5A, F13A1, GAPDH, GABPA, FOLR1, FLT1, FGFR1, FGF13, FCGR3B, FCGR3A, FCER1G, FASN, FBLN1, FAP, F3, ELAVL1, ETS1, ETFA, ERCC5, ERCC4, ERCC2, ERBB4, EPO, EPHA1, EPAS1, ENO2, ENG, ELAVL4, CRYAB, CRHR1, CLDN7, ARNT, CALM3, CALM2, CALM1, CALCA, CAPN5, C1QBP, BRCA2, BRAF, BMP4, BCL6, ATP5F1B, STS, AREG, RUNX3, AQP5, KLK3, APOE, APOA1, ANG, ALOX5, ALDH1A3, ALDH1A1, AGTR2, JAG1, ADCYAP1R1, ABCA2, CAPN1, CBS, CPA1, CDK6, COX8A, KLF6, COL5A1, COL1A2, CNR1, CMM, CCR6, CETN3, CETN2, CENPF, CDKN1C, CDKN1A, CDK4, CCKAR, CDK2, CDC25A, CDK1, CD81, CD70, CD69, CD63, CD33, CD9, CD8A, CCNB1, CCKBR, GCG, GJB2, SFRP4, GLI1, PLA2G2A, PLA2G1B, PGF, PDGFRA, PDGFA, PAX5, PRKN, PAK1, SERPINE1, NAT2, OGN, OMD, NT5E, NPY2R, NOS3, NOS1, NME1, NFKB1, NFE2L2, NBN, MUTYH, MMUT, MUC4, MTR, COX1, MSN, MSH3, PODXL, POLD1, PPARA, PTK2, SET, CX3CL1, SAI1, S100A10, S100A6, S100A4, ROS1, RFC1, RDX, RANBP2, RAC3, PTPRC, PTHLH, PPID, PTGS1, PTGER4, PTCH1, PTBP1, KLK6, PROP1, PRLR, PRL, MAPK8, PRKCD, PRELP, PTPA, ABCC1, MMP11, MMP1, HOXA3, IGFBP7, IGFBP6, IGFBP2, IGF1R, IFNB1, IFNA2, HSF1, HRAS, HPRT1, HOXD@, HOXA10, HOXA7, HOXA@, IL13, HNRNPC, HLA-DRB1, HLA-DQB1, HLA-A, HGF, HFE, GSTM3, GSC2, GRB2, GPX1, GOT2, GNRHR, IL2, IDO1, MME, LTBP2, CD99, MET, MEIS1, MDM4, MDK, MCM6, MCM5, MCM4, MCM3, MAPT, SMAD2, SMAD1, CYP4F3, ING2, LGALS1, LEP, KRAS, KIFC1, KIF11, KCNMA1, JAK3, JAK2, JAK1, ITGB1, ITGA3, INS, OPHN1
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Ataxia
Mayo_clinic
They include: Hiking sticks or walkers for walking Modified utensils for eating Communication aids for speaking Therapies You might benefit from certain therapies, including: Physical therapy to help your coordination and enhance your mobility Occupational therapy to help you with daily living tasks, such as feeding yourself Speech therapy to improve speech and aid swallowing Some studies have indicated that aerobic exercise may be beneficial for some people with idiopathic ataxic syndromes.CACNA2D2, CACNA1A, NPC1, SCN8A, ABCB7, SLC2A1, UROC1, GABRA1, HCN1, PIBF1, TUBB4A, CP, CACNB4, SOX2, PUM1, EGR3, ATP7A, ARCN1, ADPRS, GABRA4, YME1L1, PITRM1, RARS1, AP2M1, HK1, TWNK, SETX, POLG, ATXN3, ATM, PRNP, APTX, ITPR1, TTPA, TBP, ATP1A3, SPTBN2, ATP6, COQ8A, KCNA1, SIL1, PNKP, PNPLA6, SPG7, CA8, CSTB, COX8A, COX20, KCNA2, AARS2, GOSR2, PMM2, PEX10, SCN1A, DNAJC19, C9orf72, OPA1, MECP2, ATP2B3, PSEN1, TDP1, TTR, KCNJ10, SLC1A3, DLD, PLEKHG4, CNTNAP2, ATN1, SAMD9L, NKX2-1, EBF3, AIFM1, RUBCN, GALT, ITM2B, PRF1, ERCC4, GFAP, GJB1, GLB1, SLC52A2, DNM1L, SNX14, VPS13D, TSFM, PIK3CA, TRNE, TINF2, ND4, MVK, COX2, PIK3R5, ATP13A2, LMNB1, TDP2, ARSG, WWOX, ATP8A2, CHP1, APOB, ANK1, DARS2, SPG11, GSN, POLR3B, OPA3, AARS1, PLA2G6, STXBP1, UBE3A, TPP1, TRPC3, CLN5, PRRT2, DAB1, VAMP1, TRAK1, CEP164, SUCLG1, USH2A, DHX30, SLC6A19, RPIA, MAST1, UBAC2, FASTKD2, CNKSR2, CLRN1, KLLN, PET100, NEXMIF, TREX1, VHL, POLR3A, TUBB2B, SDCCAG8, NPC2, SLC35A1, NDUFS7, CIB2, SEC23B, VLDLR, ZNF423, MAPK8IP3, KIF1B, SPART, TCF20, TCN2, TERC, NSMF, NECAP1, PARS2, NDUFAF3, TERT, WHRN, TGFB1, COG4, FLRT3, TK2, SPIDR, ZFYVE26, ETHE1, ABCA5, TLR4, MED13L, SYNE1, SZT2, RPGRIP1L, IL12A-AS1, DMXL2, KIAA0556, VPS13A, MLC1, PMPCA, TOMM40, SLC30A9, WFS1, KIF7, BMP15, IQCB1, KLRC4, ZNF592, SDHAF1, POLR1C, MPDU1, PIGL, OFD1, PEX16, HS6ST1, CHCHD10, SNAP29, ALG11, PEX3, SLC6A5, NHLRC1, CTDP1, ELP1, NOL3, SGPL1, DCHS1, ST3GAL5, SYNJ1, SYNGAP1, CTSF, FGF17, HESX1, DPM1, CISD2, SUCLA2, FEZF1, AP3B2, PEX11B, ZNF142, SNORD118, NSD2, SEMA3A, MICU1, NELFA, ABCA7, GPHN, LRPPRC, RAD50, XPA, XPC, YWHAE, YWHAG, USH1C, SCO2, CEP104, AP5Z1, TUBA1A, TELO2, AGRN, KIAA0753, ALDH5A1, KIAA0586, FRMPD4, EPM2A, NUP214, PDHX, TCTN3, IFT140, AAAS, ABHD12, CEP120, TRAF3IP1, CEP290, TCTN2, UBA5, DHDDS, PDZD7, STN1, PANK2, CTC1, HYLS1, SRD5A3, ARMC9, NUBPL, DNAJC5, SLC19A3, COL18A1, SPRY4, C19orf12, CSPP1, ROGDI, CEP78, SLC13A3, SLC5A7, PROK2, RNASEH1, TRAPPC11, CDH23, HEPACAM, ARV1, ACD, FAT4, TMEM237, PCDH15, CPLANE1, NDUFAF5, CCDC28B, TMEM231, TCTN1, ADGRV1, TMEM107, PTPN22, MICOS13, SLC52A3, NUS1, ARL13B, RNF168, TRAPPC6B, USH1G, WDR81, NDUFA11, STX1B, SYT2, NAXE, PROKR2, TANGO2, NAGS, NDUFAF6, BEAN1, SLC46A1, TUBB, COA8, PIGY, COG8, NKX6-2, KISS1R, PIGO, ATAD1, WDR73, COX14, LYRM7, CEP41, TMEM67, C12orf65, ATPAF2, RFT1, NDUFAF2, PGAP3, PIGS, WDR19, CC2D2A, HACE1, TMEM216, TPRKB, SEPSECS, ABHD5, MECR, NDUFAF1, TACO1, GLRX5, TIMMDC1, ALG6, ACTL6B, TMEM138, PIGT, TBCE, CCDC141, OTUD6B, PTRH2, RRM2B, GMPPA, PCDH19, UQCRQ, SACS, SLC17A5, BSCL2, CYFIP2, TPK1, NPHP3, B9D1, INVS, GMPPB, COQ2, PGAP2, IL23R, FLVCR1, NDUFAF4, SUMF1, PSMC3IP, SUFU, RTEL1, ERAP1, TMEM126B, PIGV, PEX26, FRMD4A, WDR11, NAXD, MBD5, LMBRD1, INPP5E, INPP5K, NPHP4, MRPS22, PRDM8, MFSD8, NUP107, GJC2, MCOLN1, CHD7, SLC39A4, FOXRED1, ATAD3A, ADA2, RIPK4, NANS, TREM2, RNF216, NDUFB11, IL17RD, AHI1, SLC25A42, PIGG, MKS1, SLC13A5, TMEM70, CLN6, PIGW, FAM149B1, VRK1, TBCD, TRNK, COL13A1, MTTP, RNR1, TRNF, TRNH, TRNI, CCR1, ND6, TRNL1, TRNN, TRNP, TRNQ, TRNS1, TRNS2, COX6B1, ND5, KIT, ATP8, LETM1, TAT, LY6E, MEFV, COX15, MPV17, COX1, ND4L, COX3, CYTB, ND1, COX10, ND2, ND3, TRNW, MYD88, CLTC, NONO, NDUFS6, NDUFS8, ERCC3, NDUFV2, NEU1, NF2, PNP, ERCC8, NPHP1, NTRK2, OGDH, OTC, PAFAH1B1, PARN, NDUFS4, NDUFV1, NDUFS3, CHAT, NDUFS2, NDUFS1, NDUFB10, NDUFB9, NDUFB8, NDUFB3, NDUFA6, NDUFA1, CHD2, LYST, MYO9A, MYO7A, MYO5A, CPS1, KCNJ11, PCNA, GBA, GABRB3, EDNRB, GABRD, DYRK1A, GABRG2, GAMT, DUSP6, GABRB2, GBE1, GCK, GJA1, GCLC, DNMT1, GLRA1, EEF1A2, GABRB1, KCNB1, FOXI1, ERCC2, ERCC6, BPTF, FGF8, FGF12, FGFR1, EPRS1, EPB42, FMR1, FXN, CLN8, FSHR, FTL, NR5A1, GLRB, DNASE1L3, DNM1, CTSD, DCX, HMGCL, HNRNPH2, DCC, DBT, CYP27A1, CTNNA2, SARDH, IL10, IL12A, INS, PDX1, ANOS1, CSF1R, HLCS, HLA-DQB1, HLA-DQA1, HLA-B, HIC1, HEXB, DDB2, HARS1, GSS, DGUOK, DHFR, GRIN2D, GRIN2B, DKC1, GRN, DLAT, GPI, PAX6, CDC42, ERCC5, KIF1A, ARSA, RORA, ASL, ASS1, ATP1A2, SMPD1, PEX5, ATP6V1A, PEX2, PEX19, PTS, SNAI2, PTEN, AUH, PSEN2, APC, HTRA1, SNAP25, PRPS1, SORL1, BCKDHA, SOX10, SMARCB1, SARS1, PPT1, SCN3A, SDHD, SLC1A2, FAS, SLC4A1, SDHC, SDHB, SDHA, SCO1, SLC6A1, SCN9A, SCN2A, ARL3, SCN1B, ATXN8OS, SLC6A8, ATXN2, SLC12A3, SLC16A2, SLC18A3, SLC25A1, AKT1, ATXN1, SPAST, BBS1, PPP3CA, SLC26A4, C4A, PEX13, PEX12, PEX7, PEX6, PEX1, BCKDHB, ACAT1, ACADM, BTD, CACNA1B, PDGFB, SUOX, ABCC8, PDE6D, SURF1, SYT1, TACR3, PEX14, APP, PGM3, PLP1, BCS1L, SPR, STAT4, PGK1, STAT3, ACO2, SPTB, PHYH, SPTA1, ATXN7, AFP, ZFYVE9, SAR1A, AFG3L2, STUB1, TPO, GRM1, PDYN, CAPN1, PPP2R2B, CASP3, TGM6, EIF2B1, MRE11, FGF14, SLC9A6, CBLL2, PRND, HSD17B4, PRKCG, PRKN, MSTO1, MUL1, ATCAY, KCNC1, IREB2, GRID2, EIF2S2, EIF2B2, SLC9A1, EIF2B4, HTT, DOCK3, CERNA3, ACHE, GBA2, SOD1, ANO10, XRCC1, TP53, KCNC3, ATXN10, MAPK1, AR, PDHA1, RELN, SQSTM1, NUP93, CAMTA1, RFC1, PCYT1A, PRICKLE1, CTBP1, SAMD9, IGFALS, TSHZ1, USP14, C20orf181, BRCA1, ENO2, ACR, CDKN1A, CDC25C, BDNF, MINDY3, CDK1, MEF2B, CCND1, MIR3191, KRIT1, SCA37, CBLN1, CBLN4, HT, ERBB2, TTBK2, FMR1-IT1, CALM3, CALM2, BCL6, ALK, ATXN7L3B, CRK, ARSH, LMNB2, DAP, ABCD1, SLC25A46, TIMM8A, ALAS2, MAPK14, COA6, CRMP1, CHD6, CALM1, MARS2, ACTB, CRH, SCA18, ARMH1, SLC9C2, ADGRB3, NLRP3, SCA26, PARP1, FBXO32, XRCC6P5, CHRNA4, ZUP1, PRUNE2, LIG3, CAMKMT, PIK3CG, ARHGEF2, RNASE2, RFX3, PPT2, GRAP2, ATG5, PSMD7, KIF20B, RGS6, PKN1, MTSS1, POLD1, PLS3, PIK3CD, CILK1, PIK3CB, RABEPK, LANCL1, WARS2, NOP56, AHSA1, KHDRBS1, CPLX1, UTS2, EBNA1BP2, SLC7A9, CHEK2, PAH, RPS4X, S100B, TRPA1, HSPB3, SYP, TGM2, ELOVL4, TOP1, TOP2A, TPM3, TRH, TRIO, TRPC1, SPTBN1, TUBB2A, UCHL1, UCN, UTRN, ABCA2, SOX4, ZIC1, ZIC2, AIMP2, CCDC6, SLC6A3, CUL4B, SGCG, SEL1L, DENR, TP63, CACNA1G, MGLL, OPHN1, FGF9, GOLGA2, IFNG, HSPD1, HSPB2, HSPB1, HSPA4, HMBS, CWF19L1, UEVLD, CXCL2, GRM5, NLRP2, GRIN2A, GRB2, GNAL, OGG1, GLUD2, SLC12A9, GH1, TBC1D24, NUFIP2, KLHL1, TP53INP2, GAA, ANO3, FUS, PINK1, FRAXA, FOXO3, PANK1, IFRD1, MAP3K20, IL9, NTRK1, FAN1, NPY, NFASC, NCDN, MTCL1, BRD4, NBN, DAPK2, SUN2, GCA, MTO1, RNF19A, POLDIP2, FGF21, SEZ6L2, ANKRD1, MID1, SMAD2, RPSA, KIF5B, KCNN3, KCNMA1, KCNC2, RNF138, KCNA6, KCNA5, H3P28
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Optic Neuritis
Mayo_clinic
Optic nerve The optic nerve is a bundle of nerve fibers that serves as the communication cable between your eyes and your brain.MOG, CAPN1, AQP4, TK2, POLG, PLXNA2, TNF, CSF2, LAMC2, HLA-DRB1, ASCC2, PMEL, MBP, SART3, IL10, IL4, IFNG, HLA-DRB5, CD19, HLA-DQB1, CAT, TPX2, HCRT, SND1, NFKB2, OAS3, CUX1, HT, SDC1, REN, STAT1, OPN1LW, TG, IL27, PRKCD, CXCL13, TPO, PHLDA2, PLA2G6, RBM45, RTN4R, MLC1, POU2F3, RASL12, RASD1, IL17D, LINGO1, DPYSL5, APOE, MS, PLA2G2A, HLA-A, AVPR2, BDNF, CD14, CD27, CISH, CCR5, CNR1, EDN1, GABPA, GFAP, GSTM1, GSTT1, HLA-DQA1, PLA2G1B, IL17A, ITGB3, MAG, MAP3K5, MIF, MMP2, MMP9, FAS, NEFH, NEFL, NFE2L2, CLDN11, MARCHF11
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Exertional Rhabdomyolysis
Wikipedia
Contents 1 Cause 2 Mechanism 2.1 Anatomy 2.2 Physiology 2.3 Mechanical consideration 3 Diagnosis 4 Prevention 5 Treatment 5.1 Recovery 6 Costs 7 References Cause [ edit ] ER is more likely to occur when strenuous exercise is performed under high temperatures and humidity. [1] Poor hydration levels before, during, and after strenuous bouts of exercise have also been reported to lead to ER. [2] This condition and its signs and symptoms are not well known amongst the sport and fitness community and because of this it is believed that the incidence is greater but highly underreported. [2] Risks that lead to ER include exercise in hot and humid conditions, improper hydration, inadequate recovery between bouts of exercise, intense physical training, and inadequate fitness levels for beginning high intensity workouts. [3] Dehydration is one of the biggest factors that can give almost immediate feedback from the body by producing very dark-colored urine. [4] Mechanism [ edit ] Anatomy [ edit ] Exertional rhabdomyolysis results from damage to the intercellular proteins inside the sarcolemma .
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Disordered Eating
Wikipedia
A study published in Psychology of Women Quarterly explored the connection between social anxiety stresses and eating disordered habits more in depth in women in the LGBTQ community who were also racial minorities. [10] Over 450 women ranked their interactions with everyday discrimination, their LGBTQ identity, social anxiety, their objectified body consciousness, and an eating disorder inventory diagnostic scale.
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Hairy Cell Leukemia
Mayo_clinic
Ask your provider about support groups or organizations in your community that can connect you with other cancer survivors.BRAF, MAP2K1, CD22, CCND1, TNF, ITGAX, MAP2K7, SOX11, BCL2, CDKN1B, KRT20, CD200, IL2RA, IGH, IGHV4-34, MS4A1, IL6, BTK, TP53, IL2, KLF2, MAPK1, EPHB2, ISG20, CD19, IFNG, IGHV3-69-1, NCAM1, IGHV3OR16-7, ITGAE, ZHX2, MME, IFNA1, NOTCH2, ADA, RAF1, IFNA13, IL1B, CDKN2A, LOC102724971, BCR, RHOH, LOC102723407, FCRL5, CD79B, TBX21, ANXA1, ZNRD2, ABCB6, DCTN6, CIB1, TMED7-TICAM2, NSA2, PCAT1, IGHV3-21, MYMX, BCL2L11, PPP1R13L, GRAP2, DOK2, SYNJ2, SKAP1, ENC1, CLLS2, TICAM2, CD160, IFNL3, RAPH1, IGLJ3, TMED7, IGHV3-30, TGFB1, DBR1, SHC3, IGHV3-33, AICDA, CPAT1, MARCKSL1, PPARGC1A, B3GAT1, WLS, TNFRSF13C, SMUG1, PRAME, ACSBG1, TBC1D9, ALKBH3, IGHV1-2, ABL1, ABCB1, TERC, IL3, IFI27, HLA-DRB1, HEXB, GSTP1, CXCR3, GDF1, FLT3, F2R, ERBB2, CTTN, EGF, CYP19A1, CSF3, CR2, CDKN2B, CD81, CD44, CD40, CD38, CD1D, ATM, APOH, ANXA5, IL1A, IL3RA, TRBV20OR9-2, IL4, SYN2, SPN, ROCK1, RNH1, PTH, PSMD9, PIK3CG, PIK3CD, PIK3CB, PIK3CA, ENPP1, SERPINA5, PAX5, NDUFAB1, MYD88, ABCC1, KMT2A, MCL1, LTA, ITK, ITGB2, IL10, CXCL8, H3P23
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Barth Syndrome
Wikipedia
Biochemical and Biophysical Research Communications . 279 (2): 378–82. doi : 10.1006/bbrc.2000.3952 .
- Spinocerebellar Ataxia Type 20 Gene_reviews
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Usher Syndrome Type Ii
Gene_reviews
The specialized educational requirements of the congenitally deaf have historically rendered the population with USH1 more accessible for study by researchers. Persons with USH2 or USH3 communicate orally and are mainstreamed into regular schools; thus, the prevalence of USH2 and USH3 in the general population cannot be estimated as accurately as that of USH1. ... Genetic counseling By genetics professionals 1 To inform patients & families re nature, MOI, & implications of USH2 in order to facilitate medical & personal decision making Family support/ resources Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support.
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Tbc1d24-Related Disorders
Gene_reviews
There were no digital anomalies or deafness [Sam Berkovic, MD, personal communication]. Early-Infantile Epileptic Encephalopathy 16 (EIEE16) Epileptic encephalopathies are defined by the International League Against Epilepsy (ILAE) as conditions in which epileptiform EEG abnormalities themselves are believed to contribute to progressive disturbance in cerebral function [Engel 2001, Berg et al 2010]. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life. ... Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties.
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Hepatic Veno-Occlusive Disease With Immunodeficiency
Gene_reviews
There was partial response to high-dose IVIG and steroid therapy, suggesting an inflammatory etiology [MW Lin and M Wong, personal communication]. Other features. Infants and children with VODI do not have dysmorphic features. ... This in turn suggests that the diagnosis has been missed in expatriate Lebanese communities. The prevalence of VODI in children of non-Lebanese origin is unknown; however, the following reports suggest that the VODI phenotype is observed in other populations. ... She remains neurologically normal and her MRI scan at age two years showed no anatomic abnormality [M Wong, personal communication]. In 2016, an Australian infant of consanguineous Lebanese background presented at age four months with Pneumocystis , CMV infection, and hVOD with hypogammaglobinemia. ... CMV retinitis was apparent and both CSF and vitreous were CMV PCR positive [T Cole, J Smart, and T Soosay Raj, personal communication]. Inclusion of defibrotide prophylaxis in the transplant regimen may improve survival.
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Rab18 Deficiency
Gene_reviews
As expected for an autosomal recessive disorder, incidence is known to be higher in isolated communities and in communities with a high rate of consanguinity [Bem et al 2011, Handley et al 2013]. ... Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability. Motor Dysfunction Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC] for individuals who have expressive language difficulties. ... Affected individuals are at increased risk of broken limbs and dislocations and may be unable to effectively communicate the cause of the resulting distress.
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C9orf72 Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis
Gene_reviews
Genetic counseling By genetics professionals 2 To inform patients & their families re nature, MOI, & implications of C9orf72 -FTD/ALS spectrum to facilitate medical & personal decision making Family support/ resources Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral. ... Venlafaxine Used when apathy is prominent Atypical antipsychotics For severe manifestations (agitation, aggressiveness, psychosis) refractory to SSRIs Often a temporizing measure until affected person becomes more apathetic Note: Risk of iatrogenic extrapyramidal syndrome Pseudobulbar affect Dextromethorphan/quinidine Dysarthria Speech/language therapy Use of augmentative communication devices Dysphagia Continuous eval & therapy Safe swallowing techniques, diet modifications, gastrostomy tube Sialorrhea Anticholinergic medications, salivary gland botulinum toxin injections, or radiotherapy Note: Anticholinergic medication can affect cognition.
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Wfs1 Wolfram Syndrome Spectrum Disorder
Gene_reviews
Treatment of Manifestations in Individuals with WFS1 -WSSD View in own window Manifestation/Concern Treatment Considerations / Other Diabetes mellitus Routine practice for insulin-dependent DM Optic atrophy Correction of refractive error Evaluate for visual aids. Community vision services through early intervention or school district. ... Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. ... Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing. Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties. ... The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. ... Per treating clinician Growth retardation Per treating clinician Family/Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
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Foxp2-Related Speech And Language Disorders
Gene_reviews
The interactions between these communication disorder subtypes are not well understood. Language and literacy difficulties may be influenced by or even result from CAS, or these phenotypes may actually be features of the same broad communication disorder. Childhood apraxia of speech (CAS), a disorder of speech motor planning/programming, is the core phenotype of FOXP2- related speech and language disorders [Watkins et al 2002, Laffin et al 2012, Turner et al 2013].
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Action Myoclonus – Renal Failure Syndrome
Gene_reviews
Although the two families with the late-onset form are likely related as they originate from the same rural area, the precise relationship is unknown [Hiroshi Doi, 2014, personal communication; Hitoshi Takahashi, June 2014, personal communication].