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Oncovirus
Wikipedia
Caister Academic Press . ISBN 978-1-904455-99-8 . ^ a b Poulin DL, DeCaprio JA (September 2006). ... PMID 16963733 . ^ Wiest T, Schwarz E, Enders C, Flechtenmacher C, Bosch FX (February 2002). "Involvement of intact HPV16 E6/E7 gene expression in head and neck cancers with unaltered p53 status and perturbed pRb cell cycle control" . ... New Science Press. ISBN 978-1-904455-99-8 . ^ a b c Levine AJ (February 2009). ... PMID 19150725 . ^ Scheffner M, Huibregtse JM, Vierstra RD, Howley PM (November 1993). "The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53". ... PMID 18202256 . ^ Scheffner M, Werness BA, Huibregtse JM, Levine AJ, Howley PM (December 1990).
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Twin Anemia-Polycythemia Sequence
Wikipedia
American Journal of Obstetrics and Gynecology . 199 (5): 514.e1–514.e8. doi : 10.1016/j.ajog.2008.03.050 . ... American Journal of Obstetrics and Gynecology . 201 (4): 417.e1–417.e7. doi : 10.1016/j.ajog.2009.07.046 . ... American Journal of Obstetrics and Gynecology . 198 (2): e4–e7. doi : 10.1016/j.ajog.2007.08.073 .
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Atrial Fibrillation
Wikipedia
AF can cause respiratory distress due to congestion in the lungs. ... Although AF and atrial flutter are distinct arrhythmias, atrial flutter may degenerate into AF, and an individual may experience both arrhythmias at different times. [12] Although the electrical impulses of AF occur at a high rate, most of them do not result in a heartbeat. ... Distinctions should be made between those who are entirely asymptomatic when they are in AF (in which case the AF is found as an incidental finding on an ECG or physical examination) and those who have gross and obvious symptoms due to AF and can pinpoint whenever they go into AF or revert to sinus rhythm. ... Also, this system does not apply to cases where the AF is a secondary condition that occurs in the setting of a primary condition that may be the cause of the AF. ... Some authors perform posterior pericardiotomy to reduce the incidence of postoperative AF. [120] When AF occurs, management should primarily be rate and rhythm control.KCNH2, KCNN3, CAV1, GJA5, SCN5A, PITX2, ZFHX3, TBX5, HCN4, SCN10A, KCNJ2, NKX2-5, PLN, NEURL1, KCNJ5, TTN, MYH7, SIRT1, SYNE2, CAND2, SOX5, HAND2, PRRX1, AOPEP, TNFSF12, ERBB4, NEBL, RBM20, KCND3, CASQ2, WNT8A, SMAD7, SYNPO2L, ATXN1, RPL3L, GCOM1, RPS2, AGBL4, BEST3, SPATS2L, ARHGAP10, KDM1B, SLC35F1, LRIG1, IGF1R, SLIT3, CDKN1A, CDK6, ARMH3, SLC27A6, ESR2, MYO18B, DGKB, EPHA3, MAPT, NUCKS1, DNAH10, TEX41, GNB4, ZNF462, MYH6, FBRSL1, ACE, PAK2, PTK2, XXYLT1, LRMDA, CASZ1, KCNN2, PKP2, KIF3C, REEP3, PPP2R3A, SLC9B1, MEX3C, TUBA8, FBXO32, LINC01426, CYTH1, UBE4B, MIR1-1HG, VWF, HIP1R, HERC1, WNT3, MYOCD, COG5, TTN-AS1, PHLDB2, PPFIA4, ASAH1, CUL4A, DPF3, LHX3, XPO7, SCMH1, GTF2I, SH3PXD2A, USP3, ZPBP2, USP34, SUN1, THRB, AKAP6, CAMK2D, CEP68, CREB5, GOSR2, GYPC, NAV2, FRMD4B, SSPN, EDN1, KCNA5, NOS3, NPPB, CYP2C19, KCNE2, GATA4, MYOZ1, KCNE5, CAV2, SELE, HTR4, KCNJ8, ABCC9, HSF2, LINC00477, MIR6500, CFL2, OPN1SW, WIPF1, FGF5, PHLDA1, SNRNP27, IRF2BPL, LRRC10, C1orf185, GJA1, MYOT, SGCA, CALU, UST, REEP1, LINC01142, MYPN, MIR30B, SORL1, SOX15, WDR1, MBD5, ARNT2, XPO1, GOPC, DES, HSPG2, PSMB7, NACA, MYO1C, NR3C1, CGA, NPPA, KCNQ1, TFPI, LMNA, IL6R, CACNA1C, ANK2, SMAD3, PPARG, NUP155, MTHFR, GATA5, FAF1, CACNB2, TNFSF12-TNFSF13, CDKN2B-AS1, SNTA1, PRKAG2, IL6, KCNE1, ALPK1, CCDC92, ITPK1, PANCR, TMEM43, LGALS3, RYR2, BSCL2, TCF7L2, TGFB1, SIK3, TNF, TAB2, XK, POLG2, SLC30A3, AGPAT2, ALDH1A2, ZPR1, BAZ1B, FADS2, GDF15, CERT1, PKD2L2, REN, GRHL1, TWNK, LIPC, FADS1, GMCL1, SLC39A8, ABHD17C, SUGP1, CRAMP1, PEX26, RRM2B, ZCCHC8, MAML3, SEMA5B, PLCG1, POLG, SLC25A26, TNNI3K, POLK, FTO, ATP2B1, LINC02269, MYZAP, DCBLD1, SLC25A4, ALB, ANXA4, CEP85L, GCKR, LINC00964, LINC02245, FOS, CELSR2, AGT, HBEGF, DTNA, CAVIN1, LINC01629, CRP, DINOL, PLCXD2, LINC01681, LIPC-AS1, CACNA2D1, LINC02576, DNAH10OS, F10, KCNK3, CYP11B2, CYP2C9, MMP9, VKORC1, F3, TNNI3, SERPINA5, MIR21, TTR, IL1B, CAD, P2RY12, MMP2, SERPINE1, COPD, NR3C2, SMAD2, F2, FSD1, ACE2, DPP4, CREM, ADRB1, AGTR1, FSD1L, ANGPT2, NLRP3, CCL2, TIMP2, TIMP1, IGF1, F2R, FGF23, SELP, VPS51, CCN2, ATP2A2, C20orf181, CST3, KCNE3, MAPK3, THBD, MIR328, ADIPOQ, MIR106B, MYL4, SCN4B, SCN2B, STAT3, DLD, DECR1, PCLAF, SLN, ABCB6, ABCB1, NOC2L, SCN1B, SCN3B, ITGB2, IL10, PCSK9, LAD1, TCFL5, NR1I2, GATA6, BCL2, PLA2G15, NGF, SLC52A2, CD40LG, TNFRSF11B, IL1A, ACSS2, CETP, ACTN2, CYP3A4, MIR150, CAAP1, COL1A1, MIR29A, NLRP6, VEGFA, RAC1, MYBPC3, VCAM1, ACCS, APLNR, CUX2, SIGMAR1, PWAR1, LPA, TRPC3, APLN, CYP4F2, CHI3L1, CXCL12, PRKRA, LYST, BAX, AVP, C1QL1, CALR, WDHD1, TSPAN31, TIMP4, PSMB8, PTH, CALCR, NOX4, ADAMTS13, MINK1, CP, RBBP6, S100B, RNASE1, ROS1, MIR133B, COL4A2, FAS-AS1, SLC30A1, MIR208B, SHBG, MIR499A, SMUG1, PGR-AS1, CD14, CAV3, TAT, ADM, AMACR, CASP8, STK11, KAT2B, TGFBR1, STAR, TH, KCNE4, ST2, SPRY1, CD44, SOD1, ADH1B, RAPGEF3, BDNF, SLC6A3, ACVR1B, SLC5A2, APOE, MIR483, SHOX2, MMRN1, PART1, HIF1A, CRH, PLG, PLAT, MIR155, TRPM7, MIR146A, ZNF415, RETN, OAT, JPH2, NHS, MSR1, GAS5, MAP6, ADGRE4P, KNG1, KCNK1, FCGR3A, FCGR3B, FN1, ITGA2B, INSRR, IL18, CXCL8, GCG, IDE, GRK5, HSPA8, HSPA4, HMOX1, HMGB1, NANS, CHAF1A, MIR223, MAPK9, MIR27B, AHSP, MIR26B, POMC, PON1, HAVCR1, MIR34A, MIR3149, PPARGC1A, MRPS30, FLVCR1, VOPP1, ARID3B, HOTAIRM1, JTB, MFRP, ATG7, TMX2-CTNND1, CAP2, SESN2, JAML, MIR4279, FASTK, UTS2, PAPOLA, POTEKP, EHMT1, SLCO1B3, MIR17HG, IL27, FOLH1B, CRYGEP, WWP1, TRAP, SLC35G1, KCNQ1OT1, LINC00472, PPM1K, STIP1, NPPA-AS1, PRSS21, ECRG4, SPATC1L, RMC1, HOPX, PCAT1, KCNK17, G3BP1, CSAD, GGTLC1, KCNK7, LOC102724197, MIR31, CACNA2D4, NKX2-6, SLCO6A1, MUC16, PRRT2, CERNA3, SIRT1-AS, C1QTNF5, GJC1, KCNK9, TRIM69, EMSLR, TRPM6, NPY4R2, CCDC141, GDF7, ANAPC10, AKR1A1, EBPL, KCNIP2, APBB3, BET1, PDZK1IP1, TICAM1, SESN3, KRT90P, KCNIP1, ATP6AP2, WNT3A, SIRPA, H19, ZGLP1, FILIP1L, HEY2, IL17D, MAP3K7CL, MIR132, SMIM10L2B, PELI1, MIR126, SALL4, GDE1, SLC24A3, LY96, LINC00273, CD2AP, MIR125A, MIR122, MIR10A, NNT, GGTLC5P, ARIH1, SNORD44, KCNK13, MTPAP, TRIM72, MIR206, MIR15B, MIR342, MIR146B, KRT20, FGF21, PRPF31, SH2B1, MIR142, CNTN5, CTNNBL1, KCNQ5, MIR137, POTEM, MIR133A2, MIR106A, NPTXR, MIR20A, MIRLET7B, ASAP1, NIBAN2, AGXT2, TSPAN33, ZHX2, RGPD2, C1QTNF9, PSS, COG2, TUSC2, PDAP1, ACOT7, DESI1, MMP28, TLX1NB, SGSM3, PHB2, GGTLC4P, GSTK1, ISYNA1, GGTLC3, MIR590, MIR92B, CASC15, IL37, PRM3, HAGLR, SNORD118, WWC1, GPD1L, SMIM10L2A, SIL1, GGT2, GREM2, CCR2, SLC22A25, ENHO, ACTBL2, SERPINA3, HDAC5, FGB, FGF13, FGFR4, VEGFD, FKBP1A, FKBP1AP1, FKBP1AP2, FKBP1AP3, FKBP1AP4, FLOT2, FOLH1, GAP43, GC, GCH1, GGCX, GGT1, CBLIF, GJA4, FGF2, FBN1, ELK3, FANCF, EMD, MARK2, ENO2, ENPEP, EPHX2, EPO, ERCC6, ETV1, EZH2, F2RL1, F5, F7, F8, FABP4, FABP3, FANCC, PTK2B, GLA, GLP1R, GLS, GNB3, IFNG, IFNGR2, IGFBP3, IGFBP7, CCN1, IL1RN, IL9, CXCR2, IL16, FOXK2, INCENP, INPP5D, INPPL1, ITGA2, ITGA5, ITGAM, ITPR1, IFNB1, ICAM1, TNC, HLA-C, GNRHR, GPT, GSK3B, GSN, HARS1, HGF, NRG1, HNF4A, HSPD1, AGFG2, HRC, HSD11B1, HSD11B2, HSPA1L, HSPB1, HSPB2, ELN, ELAVL2, SRA1, STS, ATF4, ATM, ATP2A3, ATP7B, BCHE, BCL2A1, HCN2, BMP7, BTF3P11, BTK, SLC25A20, CAPN1, CAPN2, CASP1, CASP3, CASP9, CAT, SERPINC1, RHOA, EGFR, ARAF, ABO, ACP3, ACTG1, ACTG2, ADA, ADAM10, ADCYAP1R1, PLIN2, PARP1, ADRA2C, AFA, AGER, AKT1, ALDH2, ANPEP, APOA1, APP, MS4A1, CD28, CD40, CD68, CTRL, CYBB, CYP1A2, CYP2J2, CYP3A5, DAB2, CD55, DCC, DDT, NQO1, DMD, ATN1, DUSP2, ECT2, EDN2, EDNRB, EFNA5, CTNND1, CTNNB1, CSH2, COL9A1, CES1, CTSC, CHAT, CHGA, CHRM2, CLIC2, COL1A2, COL9A2, CSH1, COL9A3, COMP, KLF6, CPB1, CPM, CRYGC, CSE1L, KCNB1, KCNJ3, KCNJ11, THBS2, THY1, TIMP3, TSPAN8, TP53, TPO, HSP90B1, TRAF2, TRAF6, TRPC1, TSC1, TSC2, TYRP1, UBC, UCHL1, UCP1, VASP, WNT1, THOP1, TGFBI, KCNK2, TFAP2A, SRSF5, SHC1, SLC2A3, SLC6A8, SMPD1, SNAI1, SOAT1, ABCA4, SULT2A1, ETF1P2, TAC1, TACR3, MAP3K7, CNTN2, TBL1X, TRA, TERT, WNT5A, ZAP70, ZNF143, MANF, TIMELESS, WASF1, HSPB3, HGS, SLC28A1, SLC33A1, NOG, SLC9A3R2, KL, FHL5, TBPL1, BCAR1, RGS6, RAPGEF5, SNX17, MVP, CASP8AP2, ASAP2, HDAC3, CES2, CMAHP, PLA2G7, ARHGEF5, NR4A3, MLLT10, CDK2AP1, USP9X, ARID1A, RECK, TNFRSF11A, DOC2A, KCNAB2, LGR5, PSMG1, TNFSF13, TNFSF10, ADAM15, MAP2K4, SCN8A, SCN2A, PDE4D, MPO, MSRA, MT3, MTR, MYD88, NDUFS4, NFATC3, NFATC4, NOS2, NPPC, NPR1, NTF3, NUCB2, OLR1, OSM, PAK1, REG3A, MMP7, MMP3, MMP1, LOXL2, KIT, LBR, LCAT, LEP, LIMK1, LIPE, LOX, LRP5, MME, EPCAM, MCL1, MET, MFAP4, MIF, ATXN3, MLLT6, PCYT1A, PDGFRA, RRAS, PDGFRB, PROC, PSMB10, PSMD4, PTGS2, PTPN11, PTPRC, PTX3, PVR, PVT1, RAF1, RARRES2, RBP4, REG1A, RENBP, RLN2, RPE, RPS27A, MAP2K1, MAPK1, PRKCD, PIK3CG, PDK4, PENK, PEPD, ABCB4, PIK3CA, PIK3CB, PIK3CD, PKD2, PRKCB, PLEC, PPA1, PPBP, PPOX, PPP1R3A, NPY4R, PRKCA, ST13
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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.
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Foreign Body Aspiration
Wikipedia
Signs and symptoms of foreign body aspiration vary based on the site of obstruction, the size of the foreign body, and the severity of obstruction. [2] 20% of foreign bodies become lodged in the upper airway, while 80% become lodged in a bronchus . [6] Signs of foreign body aspiration are usually abrupt in onset and can involve coughing, choking, and/or wheezing ; however, symptoms can be slower in onset if the foreign body does not cause a large degree of obstruction of the airway. [2] With this said, aspiration can also be asymptomatic on rare occasions. [1] Classically, patients present with acute onset of choking. [2] In these cases, the obstruction is classified as a partial or complete obstruction. [2] Signs of partial obstruction include choking with drooling, stridor , and the patient maintains the ability to speak. [2] Signs of complete obstruction include choking with inability to speak or absence of bilateral breath sounds among other signs of respiratory distress such as cyanosis . [2] A fever may be present. ... Retrieved 2008-12-16 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae Federico, Monica (2018). ... Current Diagnosis & Treatment: Emergency Medicine, 8e, "Respiratory Distress" . New York, NY: McGraw-Hill. ... "Pediatric Foreign Body Aspiration" . Pediatrics in Review . 21 (3): 86–90. doi : 10.1542/pir.21-3-86 . ISSN 0191-9601 . ... Annals of Emergency Medicine . 66 (6): 570–582.e5. doi : 10.1016/j.annemergmed.2015.07.499 .
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L1 Syndrome
Wikipedia
. ^ a b c Kahle KT, Kulkarni AV, Limbrick DD, Warf BC (February 2016). "Hydrocephalus in children" . Lancet . 387 (10020): 788–99. doi : 10.1016/S0140-6736(15)60694-8 . ... "Consideration of Function & Functional Decline" . In Williams BA, Chang A, Ahalt C, Chen H (eds.). ... The Journal of Hand Surgery . 43 (8): 774.e1–774.e5. doi : 10.1016/j.jhsa.2018.01.015 .
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Complete Androgen Insensitivity Syndrome
Wikipedia
<0.6 <3.2–25 SHBG (nmol/L) ? ? ? 52 (22–128) 53 (15–99) ? 10–50 30–90 Notes: Values are mean (range) or mean ± standard deviation. ... Non-consensual interventions are still often performed, although general awareness on the resulting psychological traumatization is rising. [80] Sex assignment and sexuality [ edit ] Most individuals with CAIS are raised as females. [1] They are born phenotypically female and usually have a heterosexual female gender identity ; [41] [81] However, at least two case studies have reported male gender identity in individuals with CAIS. [81] [82] Vaginal length in 8 women with CAIS before and after dilation therapy as first line treatment. ... Epidemiology [ edit ] It is estimated that CAIS occurs in 1 in 20,400 to 1 in 99,000 individuals with a 46,XY karyotype. [93] [94] Nomenclature [ edit ] Main article: Other names for androgen insensitivity syndrome Historically, CAIS has been referred to in the literature under a number of other names, including testicular feminization [syndrome] (deprecated) and Morris syndrome. [95] [96] PAIS has also been referred to as Reifenstein syndrome, which should not be confused with CAIS. [95] [96] History [ edit ] The first definitive description of CAIS was reported in 1817. [97] [98] The condition became more widely known after it was reviewed and named testicular feminization by American gynecologist John McLean Morris in 1953. [98] People with CAIS [ edit ] Georgiann Davis [99] Seven Graham [100] See also [ edit ] Complete estrogen insensitivity syndrome References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Hughes IA, Deeb A (December 2006). ... Clin. Endocrinol. Metab . 29 (4): 569–80. doi : 10.1016/j.beem.2015.04.005 . ... Trends Endocrinol. Metab . 3 (3): 75–81. doi : 10.1016/1043-2760(92)90016-T .AR, FKBP4, SMS, PLAT, RSS, MTNR1B, LBX1, ESR1, LEP, MATN1, IL6, EGFR, ESR2, ADGRG6, PAICS, GART, MTHFR, C20orf181, IGF1, CALM1, F5, TPH1, MT2A, AMH, MTNR1A, MMP3, TSPAN33, TP53, TMPRSS6, BNC2, TNFRSF11B, SIRT1, NTF3, SLC39A8, NCOA2, FBN1, FBN2, LEPR, PYCARD, PAX1, PDXP, GPER1, GPX3, SERPINE1, TIMP2, SHBG, BRD2, TGFB1, SULT1E1, MIR494, VDR, SRY, STS, VEGFA, BDNF, MIR15A, EOS, TP63, ADIPOQ, CST3, IS1, PITX1, SOCS3, POC5, PON1, CTNNB1, PROM1, KAT7, GPR50, PDAP1, SIRT5, TUSC2, PAPOLA, NDRG1, TXN, ADAMTS13, MSC, MRPS30, AKR1C3, CHL1, BEST1, VWF, MYBBP1A, USP8, SMUG1, UXT, TNFSF11, ASAP2, GDF15, AANAT, TMEFF2, MIR145, DPP9, NLRP3, OCIAD2, HJV, NEAT1, C17orf67, SPATA21, MIRLET7I, MIR126, MIR130A, MIR134, MIR183, HECTD1, MIR185, MIR191, MIR192, MIR222, MIR93, PALM2AKAP2, MT1IP, MIR675, CDKN2B-AS1, MIR4300, OCLN, ADGRG7, IL17RC, DOT1L, SPRY4, SETBP1, CNTNAP2, PELP1, CD274, TBX21, ASAP1, ADIPOR1, APH1A, CLEC1B, TNF, MTPAP, LAPTM4B, SOX6, MIB1, PCDH10, MIER1, MID1IP1, SOX17, NUCKS1, AHNAK, IRX1, FUZ, VANGL1, HSD17B7, PSMD4, TIMP1, DLST, CLTC, COL4A2, COL11A1, COL11A2, COMP, MAP3K8, CREBBP, CRP, CYP2C19, DBP, DMD, CHI3L1, DPP4, DUSP2, EPO, F2, F3, FGFR3, FGR, FN1, NR5A1, GAD1, CLU, CDKN2A, THRSP, ASL, ACP3, ACTB, ADRA1D, ALB, APC, APOD, APOE, ARF6, ARG1, ARSF, ATP2A2, CDH13, ATP2B4, BGLAP, BMP4, BTF3P11, CALCA, CALM2, CALM3, CASP3, RUNX2, CD38, GC, GHSR, MSH6, ABO, MT1L, MT1X, NRGN, REG3A, PAX3, PBX1, PLG, PMCH, MAPK7, PSD, RARB, HDAC2, PRPH2, S100A12, SFPQ, SRSF1, ITSN1, SLC4A1, SOX9, SRD5A2, STAT4, TGM2, MT1M, MT1JP, MT1H, MT1G, HGF, HOXA10, HSPG2, IGFBP7, IL1A, IL1B, IL5, IL10, ITGA2B, KLK1, KRAS, LCN2, LGALS1, LGALS3, LRPAP1, KITLG, MKI67, MT1A, MT1B, MT1E, MT1F, H3P10
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Mpv17-Related Mitochondrial Dna Maintenance Defect
Gene_reviews
Molecular Genetic Testing Used in MPV17 -Related mtDNA Maintenance Defect View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 Detectable by Method MPV17 Sequence analysis 3 94/98 (96%) 4, 5 Gene-targeted deletion/duplication analysis 6 4/98 (4%) 4 1. ... MPV17 -related mtDNA maintenance defect, encephalohepatopathy form is typically an early-onset disease that presents during the neonatal period (36 out of 96; 38%) or infancy (56 out of 96; 58%). ... Clinical Manifestations of MPV17 -Related Encephalohepatopathy View in own window Clinical Manifestations Frequency Hepatic Liver dysfunction 1 96/96 (100%) Liver failure 2 87/96 (91%) Cholestasis 70/96 (73%) Hepatomegaly 60/96 (63%) Steatosis 49/96 (51%) Liver cirrhosis 20/96 (21%) Hepatocellular cancer 3 3/96 (3%) Neurologic 4 Developmental delay 5 75/91 (82%) Hypotonia 67/91 (74%) Microcephaly 21/91 (23%) Peripheral neuropathy 6 17/91 (19%) Seizures 9/91 (10%) Dystonia 4/91 (4%) Ataxia 3/91 (3%) Abnormalities on brain MRI White matter 7 27/71 (38%) Brain stem signal 6/71 (8%) Basal ganglia signal 6/71 (8%) Gastrointestinal Failure to thrive 8 82/91 (90%) Gastrointestinal dysmotility 9 30/91 (33%) Feeding difficulties 28/91 (31%) Metabolic Lactic acidosis 10 72/91 (79%) Hypoglycemia 11 55/91 (60%) Other Renal tubulopathy 9/91 (10%) Nephrocalcinosis 7/91 (8%) Hypoparathyroidism 4/91 (4%) Retinopathy 7/91 (8%) Nystagmus 6/91 (7%) Corneal anesthesia & ulcers 4/91 (4%) 1. ... Outcome of Children with MPV17 -Related Encephalohepatopathy View in own window Liver Transplant? Outcome Frequency Yes (17/96; 18%) Death 1 10/17 (59%) Survival 7/17 (41%) No (79/96; 82%) Death from liver failure 2 65/79 (82%) Survival 3 14/79 (18%) 1. ... The majority died during infancy (52/65; 80%); some died during early childhood (1-5 years) (10/65; 15%), adolescence (2/65; 3%), or early adulthood (1/65; 2%). 3.
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Priapism
Wikipedia
. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at Podolej, GS; Babcock, C (January 2017). ... Retrieved 2011-12-07 . ^ Helen Carcio, MS, MEd, ANP-BC, R. Mimi Secor, MS, MEd, FNP-BC, NCMP, FAANP (2014). ... Urology . 17 (5): 399–408. doi : 10.1016/0090-4295(81)90177-1 . PMID 7015666 . External links [ edit ] Classification D ICD - 10 : N48.3 ICD - 9-CM : 607.3 MeSH : D011317 DiseasesDB : 25148 External resources eMedicine : med/1908 Guideline on the Management of Priapism (2003) - American Urological Association website - The unabridged 275-page version of this guideline.
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Side Effects Of Bicalutamide
Wikipedia
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 . ... "The role of antiandrogen monotherapy in the treatment of prostate cancer" . BJU International . 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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Arterial Embolism
Wikipedia
Examples are: Anticoagulants (such as warfarin or heparin ) and antiplatelet medication (such as aspirin , ticlopidine , and clopidogrel ) can prevent new clots from forming [2] Thrombolytics (such as streptokinase ) can dissolve clots [2] Painkillers given intravenously [2] Vasodilators to relax and dilate blood vessels. [1] Appropriate drug treatments successfully produces thrombolysis and removal of the clot in 50% to 80% of all cases. [1] Antithrombotic agents may be administered directly onto the clot in the vessel using a flexible catheter ( intra-arterial thrombolysis ). [1] Intra-arterial thrombolysis reduces thromboembolic occlusion by 95% in 50% of cases, and restores adequate blood flow in 50% to 80% of cases. [1] Surgical procedures include: Arterial bypass surgery to create another source of blood supply [2] Embolectomy , to remove the embolus, with various techniques available: Thromboaspiration [2] Angioplasty with balloon catheterization with or without implanting a stent [1] [2] Balloon catheterization or open embolectomy surgery reduces mortality by nearly 50% [1] and the need for limb amputation by approximately 35%. [1] Embolectomy by open surgery on the artery [1] [2] If extensive necrosis and gangrene has set in an arm or leg, the limb may have to be amputated . [1] Limb amputation is in itself usually remarkably well tolerated, but is associated with a substantial mortality (~50%), primarily because of the severity of the diseases in patients where it is indicated. [1] Prognosis [ edit ] How well a patient does depends on the location of the clot and to what extent the clot has blocked blood flow. ... Arterial emboli may recur even after successful treatment. [2] Complications [ edit ] Possible complications of arterial embolism depend on the site of the obstruction: In the heart it can cause myocardial infarction [2] In the brain, it can cause a transient ischemic attack (TIA), [2] and, in prolonged blood obstruction, stroke . [2] Blockage of arteries that supply arms or legs may result in necrosis and gangrene [1] Temporary or permanent decrease or loss of other organ functions [2] In septic embolism , there can be infection of the affected tissue or even septic shock, [2] Epidemiology [ edit ] In the United States , approximately 550,000 people die each year from heart-related arterial embolism and thrombosis. [1] Approximately 250,000 of these individuals are female, [1] and approximately 100,000 of all these deaths are considered premature, that is, prior to the age of average life expectancy. [1] References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av MDGuidelines > Arterial Embolism And Thrombosis From The Medical Disability Advisor by Presley Reed, MD. Retrieved on April 30, 2010 ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au MedlinePlus > Arterial embolism Sean O.
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Ciliopathy
Wikipedia
. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx by bz ca cb cc cd ce cf cg ch ci cj ck cl cm cn co Baker, Kate; Beales, Philip L. (2009).WDR19, OFD1, KIF7, CEP290, TMEM67, RPGRIP1L, BBS2, DYNC2H1, MKS1, AHI1, MKKS, ARL13B, CPLANE1, IQCB1, NEK1, NEK8, CC2D2A, RPGR, SDCCAG8, TTC21B, ZNF423, NPHP1, NPHP3, WDR35, CEP164, PKHD1, RPGRIP1, LCA5, IFT80, XPNPEP3, TULP1, EVC2, BBS5, GLIS2, CRB1, UMOD, TMEM231, TMEM216, CCDC28B, BBS9, TCTN2, INVS, B9D1, TRIM32, FAM92A, TMEM237, USH2A, BBS1, NPHP4, BBS4, GUCY2D, GDF1, PCARE, TOPORS, USH1C, NR1H4, CCDC40, DNAAF2, LRAT, B9D2, FOXH1, DNAH11, ADGRV1, ARL6, IMPDH1, CDH23, BBS10, EVC, CCDC39, WDPCP, DNAAF3, CRELD1, CFTR, CRX, NKX2-5, TMEM138, RD3, PCDH15, DNAH5, TCTN1, WHRN, ATXN10, AIPL1, DNAH8, ZIC3, RDH12, VHL, BBS12, SCNN1A, CLRN1, SPATA7, MYO7A, CEP41, IFT43, PKD2, SCNN1G, LRRC56, TTC8, DNAAF1, USH1G, NODAL, ACVR2B, SCNN1B, RPE65, LEFTY2, BBS7, KCNJ13, HYLS1, TSC2, TSC1, SCLT1, WDR11, NEK4, IFT140, INPP5E, KIAA0586, CEP120, IFT122, IFT52, ALMS1, MAK, TMEM107, IFT172, PRKD1, DCDC2, FGFR1OP, CEP104, STK11, WDR60, TCTN3, C2CD3, CILK1, POC1B, IFT27, TGFB1, RHO, ARMC9, CFAP410, CRB2, FOXJ1, CENPF, MGS, USP35, ARL13A, NPHP3-ACAD11, TTC26, MCIDAS, MICAL3, DNAAF4, PIFO, FOPNL, NEK9, IFT20, UCN2, CEP19, TAPT1, USP38, CPLANE2, TBC1D32, FAM161A, TEKT1, SLC41A1, BICC1, CSPP1, TXNDC15, FAM149B1, ACTB, NINL, ADAMTS9, PPT1, MCM2, RAB8A, NME3, NOTCH2, ORC1, PAFAH1B1, PAM, PCM1, PCNT, PCP4, PDE6D, PIK3CA, PIK3CB, PIK3CD, PIK3CG, KPNA3, KIF11, JBS, CTNNB1, AGXT, ATD, ATR, CCND1, BUB1B, CETN2, DAP, IGF1, E2F4, FGF8, FGFR3, GAS8, GLI1, GLI2, PKD1, RAF1, CEP72, RFX1, WDR5, ACVR1, RCOR1, ARL2BP, POC1A, CHTOP, TRAF3IP1, SGSM3, IFT81, PIK3R4, HSPB11, SUFU, RAB23, IFT57, CEP55, B4GAT1, B3GNT2, KIF14, IFT88, RFX3, RNASE3, CCL2, HNF1A, TNF, EZR, TRRAP, CEP350, IKBKG, CDK10, TNFSF14, UNC119, USP8, KIAA0753, LCA10
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Inborn Errors Of Carbohydrate Metabolism
Wikipedia
In most mammals, production of lactase diminishes after infants are weaned from maternal milk. However, 5% to 90% of the human population possess an advantageous autosomal mutation in which lactase production persists after infancy. ... Additionally mild myopathy like GSD 9d. Rare. GSD 9c : Similar to GSD 9a, but tends to be more severe. ... Exercise test : Muscle involvement see GSD 9d. NLM/GHR: PHKA2 OMIM: PHKA2 NLM/GHR: PHKB OMIM: PHKB NLM/GHR: PHKG2 OMIM: PHKG2 NLM/GHR: GSD 9 ORPHA: GSD 9 OMIM: GSD 9a1/9a2 ORPHA: GSD 9a/9c OMIM: GSD 9b ORPHA: GSD 9b OMIM: GSD 9c Glycogenolysis final step: Release of G-1-P – Phosphorylase kinase, alpha 1 (Activation of muscle glycogen phosphorylase, c.f. GSD 5) PHKA1 : Muscle GSD type IXd (GSD 9d, phosphorylase b kinase deficiency, PhK deficiency, muscle glycogenosis) Formerly GSD type VIII (GSD 8) Formerly GSD type Vb (GSD 5b) [10] Myopathy. ... Normal or exaggerated ammonia response. [11] NLM/GHR: PHKA1 OMIM: PHKA1 NLM/GHR: GSD 9 OMIM: GSD 9d ORPHA: GSD 9d/9e Degradation of glycogen to glucose in lysosomes – Acid alpha-glucosidase (Alternative pathway to glycogenolysis) GAA: Myopathy GSD type II (GSD 2, Pompe's disease, acid maltase deficiency, deficiency of lysosomal alpha-glucosidase, cardiomegalia glycogenica) Classic infantile form (Pompe disease) : Cardiomyopathy and muscular hypotonia.
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Trigonocephaly
Wikipedia
Optima Grafische Communicatie. ISBN 978-90-8559-601-1 . ^ Wilkie, AO (1997). ... The Journal of Pediatrics . 93 (2): 188–91. doi : 10.1016/S0022-3476(78)80493-4 . ... Child's Nervous System . 23 (3): 269–81. doi : 10.1007/s00381-006-0251-z . ... Journal of Neurosurgery . 45 (4): 376–81. doi : 10.3171/jns.1976.45.4.0376 . ... "Endoscopic craniectomy for early surgical correction of sagittal craniosynostosis" . Journal of Neurosurgery . 88 (1): 77–81. doi : 10.3171/jns.1998.88.1.0077 .
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Stargardt Disease 1
Omim
The earliest cone spacing abnormalities were observed in regions of homogeneous AF, normal visual function, and normal outer retinal structure. Outer retinal structure and AF were most normal near the optic disc. Longitudinal studies showed progressive increases in AF followed by reduced AF associated with losses of visual sensitivity, outer retinal layers, and cones. Chen et al. (2011) concluded that their findings support a model of STGD disease progression in which lipofuscin accumulation results in homogeneously increased AF with cone spacing abnormalities, followed by heterogeneously increased AF with cone loss, and then reduced AF with cone and RPE cell death. ... Whereas phenotypic differences were not obvious on the basis of either qualitative fundus autofluorescence (AF) or SD-OCT, with quantitative AF (qAF), the 2 groups of patients were clearly distinguishable.
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Hiv Superinfection
Wikipedia
. ^ a b c d e Redd AD, Mullis CE, Serwadda D, Kong X, Martens C, Ricklefs SM, Tobian AA, Xiao C, Grabowski MK, Nalugoda F, Kigozi G, Laeyendecker O, Kagaayi J, Sewankambo N, Gray RH, Porcella SF, Wawer MJ, Quinn TC (July 2012). ... PMID 22675216 . ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak Redd AD, Quinn TC, Tobian AA (July 2013). ... PMID 18020705 . ^ Blish CA, Dogan OC, Jaoko W, McClelland RS, Mandaliya K, Odem-Davis KS, Richardsonb BA, Overbaugh J (March 2012). "Cellular immune responses and susceptibility to HIV-1 superinfection: a case-control study" . ... PMID 15995957 . ^ a b c d Streeck H, Li B, Poon AF, Schneidewind A, Gladden AD, Power KA, Daskalakis D, Bazner S, Zuniga R, Brander C, Rosenberg ES, Frost SD, Altfeld M, Allen TM (August 2008). ... The Journal of Experimental Medicine . 205 (8): 1789–96. doi : 10.1084/jem.20080281 . PMC 2525594 .
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Malignant Hyperthermia
Wikipedia
For patients at similar risk to those in this study, this leads to a positive predictive value of 80% and negative predictive value of 100%. ... Retrieved 2016-01-06 . ^ a b Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (November 1991). ... The North American Malignant Hyperthermia Registry of MHAUS". Anesthesiology . 88 (3): 579–88. doi : 10.1097/00000542-199803000-00006 . ... "Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test". Lancet . 359 (9317): 1579–80. doi : 10.1016/S0140-6736(02)08506-9 . ... "A clinical grading scale to predict malignant hyperthermia susceptibility". Anesthesiology . 80 (4): 771–9. doi : 10.1097/00000542-199404000-00008 .RYR1, CACNA1S, STAC3, SCN4A, BIN1, EDAR, SCN5A, TRAF6, ELP1, CRLF1, ABCA12, CLCF1, HSPG2, MTMR14, TRAPPC9, KDF1, EDARADD, NALCN, MYF6, MYH3, CHRND, CHRNG, CHRNA1, DNM2, GCDH, RYR2, CASQ1, BCHE, RUNX2, SELENON, CBS, DMD, EPHA3, CBSL, MHS2, CACNA2D1, SNRNP27, SLC24A3, MEPE, EIF3K, CACNA1C, ATP2A1, H19, AICDA, GYPA, SPAG9, GYPB, MHS3, TRPV1, FLNA, QDPR, PRODH, ARVD3, KCNA1, IL6, HTR3A, GPI, HAL, GYPE, COL4A1
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Sclerosteosis
Wikipedia
References [ edit ] ^ a b c d e Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (Mar 2001). ... Journal of Medical Genetics . 39 (2): 91–7. doi : 10.1136/jmg.39.2.91 . PMC 1735035 .
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Dislocated Shoulder
Wikipedia
The American Journal of Emergency Medicine . 9 (2): 180–88. doi : 10.1016/0735-6757(91)90187-o . ... PMID 1994950 . ^ Kelley, SP; Hinsche, AF; Hossain, JF (November 2004). "Axillary artery transection following anterior shoulder dislocation: Classical presentation and current concepts". ... "Traumatic glenohumeral bone defects and their relationship to failure of arthroscopic Bankart repairs: significance of the inverted-pear glenoid and the humeral engaging Hill-Sachs lesion". Arthroscopy . 16 (7): 677–94. doi : 10.1053/jars.2000.17715 . PMID 11027751 . ^ Burkhart SS, De Beer JF, Barth JR, Cresswell T, Roberts C, Richards DP (Oct 2007). ... Knee Surg Sports Traumatol Arthrosc . 21 (2): 445–49. doi : 10.1007/s00167-012-2254-5 . PMID 23114865 . ^ a b Fleega, BA; El Shewy, MT (May 2012). "Arthroscopic inferior capsular shift: long-term follow-up". ... J Shoulder Elbow Surg . 23 (8): 1171–80. doi : 10.1016/j.jse.2014.02.022 .
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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.