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  • Nervous System Disease Wikipedia
    Behavioral Neuroscience . 198 Madison Avenue, New York, NY 10016, USA: Oxford University Press. p. 365. ISBN 9781605357430 . CS1 maint: location ( link ) ^ a b Johnson, Candice Y.; Honein, Margaret A.; Flanders, W.
    TNF, BDNF, GFAP, SCN8A, ACHE, NGF, SOD1, TYMS, SLC2A1, SLC6A3, ABCB1, CASP3, NOTCH1, DPYD, TTPA, CSF3, CHRNA4, PTGS2, PRODH, MTHFR, DHFR, PENK, TTC19, NOS1, ATF3, SELENOP, SLC10A2, CASP9, ASCL1, GUSB, SLC18A2, KCNQ2, SLC19A1, SHMT1, HES5, NOD1, ABCC2, ABCG2, ATXN8OS, FOXG1, NEUROD1, NFATC2, ID3, CYP2C8, CYP2C9, ARFGAP1, MTRR, ADRB2, PNPLA6, FOS, EN1, SERPINE1, CAMKK1, TP53, TARDBP, SNCA, MECP2, HTT, MAPT, CACNA1A, NEFL, ATF7IP, APOE, AQP4, PRNP, NFE2L2, FXN, VEGFA, ATP1A3, CDK5, PRRT2, C9orf72, FMR1, TSPO, EPO, C20orf181, IL6, GAD1, NPC1, GRIN2B, HCRT, GABPA, UBE3A, ARX, L1CAM, TOR1A, OPA1, ACTB, IL10, GLP1R, MTOR, SLC1A2, REST, COMT, MAOA, THBS1, REN, MAOB, CSF2, SETX, APP, DRD2, GCG, LAMC2, MFN2, GLRA1, AR, CSF1R, POLG, PLAT, VCP, MOG, ALB, SIRT1, MIR21, CD46, HMGB1, ENO2, CNTNAP2, ERVW-1, UCHL1, BCHE, CDKL5, HPRT1, ATXN1, FUS, TPI1, WWOX, CHI3L1, SLC12A5, PIK3CA, PIK3CB, TNFRSF1B, MIR146A, DYRK1A, PIK3CD, SNAP25, LGI1, IL1B, PIK3CG, NR2E1, MCF2L, ERVK-20, EHMT1, LCN2, PLA2G6, HDAC6, ZGLP1, IGF1, GCH1, P2RX7, ABCC8, IL17A, XPA, SPTLC1, RELN, CP, CTNNB1, TTR, SCN1A, GAD2, CNR2, CNR1, ABCD1, GNAO1, AHR, ATL1, LRP2, MPZ, FTO, PNKP, AKT1, GRN, NLRP3, PPARG, GRM5, ATM, MGLL, HTR1A, NEFH, HTR7, IFNG, CYFIP2, NDUFS4, IDO1, NCL, EXOSC3, TOLLIP, ITPR1, KCNC3, KIF5A, IL2RB, APTX, LMNB1, GEMIN4, SIGLEC7, CXXC1, MMP9, PYCARD, MSMB, ATP6, DISC1, IGFALS, ITIH4, PSEN1, HSPB8, STXBP3, RIDA, SIGMAR1, TRBV20OR9-2, TCF3, MICU1, SURF1, CFDP1, AAVS1, SPAST, SOX10, SOX2, SLC9A6, SMPD1, SLC12A2, DNM1L, SLC12A6, TOP1, TRPM2, HDAC9, VRK2, ZIC1, SLC6A5, MANF, SLC7A5, EIF2S2, EIF2B2, EIF2B4, DENR, KHSRP, HDAC3, RNMT, CTCF, CCL5, SACS, PITX2, SIRT2, SV2C, PTPA, PLP1, PLG, CYFIP1, NCS1, CCL2, PAFAH1B1, NR4A2, AUTS2, NOVA1, NOTCH3, NHS, MAPK1, MAPK3, PSPN, SMPD3, PSMD2, PSPH, PTEN, PTN, PVALB, PSIP1, REG1A, RIT2, PPARGC1A, SORT1, S100B, ATXN2, SCT, VPS13D, BANF1, FRAXA, GRM2, EPHA4, CASP1, ERCC6, FAAH, CALCA, FANCD2, DDHD1, DDR1, BRCA2, PINK1, AVP, ATP7B, GLUL, ERVK-6, SLC25A19, CHCHD10, APOD, IGLON5, SEMA6A, EIF4G2, EIF2B1, MTDH, CRP, CST3, CUX1, CX3CR1, RBM45, CSH2, CSH1, DAPK1, HSPA4, ACE, DPYSL2, BPIFA2, CREB1, DECR1, DLG3, CLN3, DNMT1, TPP1, CLU, MIR132, CSTB, HDAC2, HDAC1, HLA-DQB1, ADAM10, HCLS1, NRG1, HLA-DRB1, MIR27B, CXCR6, PDIK1L, ARTN, CERS1, HSPB3, CELF2, NRG3, RGPD2, AP3D1, OGA, PROM2, AHSA1, MANEAL, NPC2, MAP7, PLB1, ZSWIM2, PPM1K, ABCA13, AMOT, CXCL13, CBLL2, KAT5, DNAAF4, MIR574, MARCHF10, OXER1, WASF1, NRG4, SEPTIN9, ERVK-18, SYNGAP1, PDCD10, POLG2, ERVK-32, FMR1-IT1, PROM1, WDR45, TPPP, ALKBH1, UPK3B, ACMSD, CDK5R1, IMMT, TCERG1, GPR151, GLIS3, NR1I2, TAAR1, PDE10A, TRIM40, NEU3, MIR147B, CDKN2B-AS1, PIWIL4, TTC36, OR2AG1, CPLX2, FBXL14, PWAR1, GCOM1, SEMA4D, USP14, RLS1, PIWIL1, MALAT1, RAPGEF5, KIAA0319, SV2A, TGM6, KBTBD11, VN1R17P, GRAP2, NACA2, CACNA2D2, SYT10, GPR166P, ABCB5, RAB7B, HDAC4, KRTAP10-1, ADGRG1, EFTUD2, CDNF, MAD2L1BP, CLOCK, LITAF, KL, MIR17HG, PICK1, ADIPOQ, MIR148A, GSTO1, MIR155, MIR212, NTN1, AKT3, LIN9, SRA1, NALCN, MPEG1, ZUP1, HAX1, TOMM40, RBM14, GPRC6A, ANKK1, TUBB4A, USP6, INA, HGS, MFSD8, ATXN7L3B, TUBB3, BDNF-AS, SLC9A9, IRF9, TUBA1B, MRGPRX1, IS1, EXOSC8, H19, PGP, PIGW, MPHOSPH6, PQBP1, BTBD8, ABCB6, LPAR2, SH2B3, PI4K2A, MORC2, NEU4, NGB, SLC40A1, CELF5, GAS5, LGR6, SHANK1, TRPV4, DMRT3, GBA2, NLRP1, TBC1D24, NDUFA13, SEPSECS, TLR7, RXFP3, DACT1, TRPV2, UBQLN1, UBQLN2, GPSM2, CXorf56, REEP1, TPK1, NOX1, NMNAT1, AGO2, CPEB1, HPGDS, ROBO3, TMEM97, NOD2, TRIB2, SLC39A8, GOLPH3, ACAD9, STRN4, MCOLN1, TRAPPC4, DCDC2, RNF20, KLHL7, TRPM7, TDP1, IARS2, VAC14, PRPF40A, SLC25A38, ANO1, AGGF1, ANO10, OSGEP, SLC30A10, DARS2, ASIC4, SHQ1, NDE1, TRPM4, PELI1, TMED9, ANO2, SLC17A7, TDP2, PDXP, ACKR3, UFM1, FAM20C, LGALS14, CD244, SUCLA2, ATP8A2, TREM2, RETREG1, CELF4, GTPBP2, STK33, SCNM1, METRN, KDM1A, SLC26A8, SMG1, SLC52A3, NMNAT2, ERC1, CDCA5, KIF1B, IQSEC2, FOXP2, CADPS2, SARM1, KANK1, MTG1, PMPCA, UBXN11, TNIK, NT5C2, SHANK3, SHANK2, WDR81, CANT1, JDP2, CNKSR2, LRRK2, NLGN1, RLN3, SLC16A10, MRGPRX4, WDR37, RPH3A, TRAK1, RAB3GAP1, MRGPRX3, GRIN3A, IL33, CNDP1, SLC52A2, EID1, QPCT, RNF19A, ARMC10, AKR1E2, NDEL1, WNT5B, POLDIP2, ABHD12, DGCR5, COL18A1, SRCIN1, SLC19A3, OPA3, UBA5, MUL1, CIZ1, FRRS1L, DDHD2, IBGC1, GPT2, BICD2, USP22, ATP13A2, SIRT5, ZNF469, CARD11, BRD4, SLC39A14, LPAR3, SETD3, SMUG1, SLITRK6, DAPK2, DTNBP1, AARS1, CXCL12, TNFRSF14, FGF2, FOXM1, FLNA, FOLH1, FRAXE, GABRA3, GABRG3, B4GALNT1, GAP43, GBA, GC, GCDH, GCHFR, GDF1, GGTA1P, GJB1, GLB1, GLRA2, GLUD1, GPI, FOXE1, FCN2, CXCR3, FABP7, DLX6, DNM1, DNM2, DPP4, DRD4, RCAN1, EBF1, ECM1, EDNRA, EEF1A2, ELK3, EMX2, EPHB1, EPHB2, ERBB4, ERCC2, ERG, ESR1, F2R, GPM6B, GPER1, RIPK1, HLA-DQB2, HMOX1, HNRNPA1, AGFG1, AGFG2, HRES1, HSPA9, HSPB1, HSPB2, HTC2, HTR2A, IDH3A, IDS, IDUA, IFNB1, IGF2, IL2, IL2RA, IL4, IL12A, HLA-DRB6, HLA-DQA1, GPR35, HLA-A, GPR42, GPX1, GPX4, GRIA2, GRIA3, GRIK1, GRIN2A, GRIN2D, GRM1, GRP, GRPR, GSK3B, H2AZ1, HSD17B10, HARS1, HCFC1, HCRTR2, HIP1, HK1, DLG4, DLD, NQO1, ANPEP, ANXA2, BIRC3, FAS, FASLG, ARNTL, ARSA, ASPA, ATP1A2, KIF1A, B2M, BACH1, BCS1L, BLM, DST, BRS3, BST2, BTN1A1, CACNA1D, CACNA1F, ANXA1, ANK3, CYB5R3, ALPL, ABCA1, ABCA2, ABO, ACR, ADAR, ADCYAP1, ADCYAP1R1, PARP1, ADRA1A, ADRA2B, GRK2, ADSL, AGER, JAG1, AGT, AGTR1, AHSG, ALDH3A2, ALOX15, CACNB4, CALB1, CALR, CAMK2B, COMP, COX15, CPE, CREBBP, CRK, CRMP1, CRYBB1, MAPK14, NCAN, CTLA4, CTSB, CYP1A2, CYP2B6, CYP2D6, CYP27A1, DARS1, DBH, DBN1, DCTN1, COL9A3, COL9A2, COL9A1, CD68, CAPN1, CAPN2, CAST, CASP6, CAV1, SERPINH1, CD1D, CD40LG, CDH13, CCR5, CDKN2A, CDKN2B, CEBPB, CEBPD, CHD2, ERCC8, CLCN2, CCR4, IL18, ILF2, CXCL10, SMARCA1, SNCG, SOD2, SPTAN1, SRY, SSTR4, STAT1, STAT3, ELOVL4, SULT1A1, VAMP1, TAC1, TBP, TERT, TGFBR2, TGM2, TH, THM, TIMP1, NKX2-1, SMARCA4, SLC22A4, NECTIN1, SLC6A2, QARS1, QDPR, RAB27A, RANBP2, RET, RGS4, RPA1, RPS27, S100A1, S100A6, SCN2A, CCL17, SFRP2, SLAMF1, SLC1A1, SLC1A3, SLC4A3, SLC2A4, SLC6A1, TLR2, TLR4, TMSB4X, CLEC3B, CXCR4, SCLC1, RAB7A, ST8SIA4, AIMP2, GAN, TAF15, AKAP1, FZD4, PLA2G10, ULK1, CUL1, SEMA7A, PIK3R3, DEGS1, KMO, TP63, PDE5A, BECN1, TUBA1A, ZIC2, YWHAZ, TXN, TNFAIP1, TPH1, TPO, TRPC3, TRPC6, TSC2, TTK, TWIST1, TXNRD1, YWHAG, UBB, UCP2, UTRN, VDAC1, VDR, VRK1, WNT1, XRCC1, ALDH18A1, PVR, INS, MITF, MME, MNAT1, MOV10, MPO, MST1R, COX1, ND6, MTR, RNR2, MYLK, NAGA, NCAM1, NDUFV1, NFKB1, NGFR, NQO2, NMT1, NOS2, NOVA2, ATXN3, MAP3K5, PURA, MEFV, INPPL1, ISG20, ITPR3, KCNJ5, KCNQ1, KIFC1, LEP, LIG4, LRPAP1, LTBP3, SH2D1A, LYZ, MAB21L1, MAG, MANBA, MAP1B, MDK, MEF2A, MEF2C, PNP, NPTX2, NRGN, NTF3, POLD2, POMC, PON1, PPARA, PPP2R2B, PPT1, PREP, PRF1, PRKCA, PRKCB, PRKD1, MAPK8, MAPK9, MAPK10, MAP2K7, EIF2AK2, HTRA1, PSMA1, PTX3, PMP22, PLA2G4A, PLA2G2A, PCSK2, DDR2, NTS, OGDH, OXA1L, P2RY6, PAK1, PRKN, PARN, PDE7A, PLA2G1B, PDGFB, PDGFRB, ENPP2, PDYN, SERPINF1, PEX1, PEX6, PITX3, STIN2-VNTR
    • Neurological Disorder Wikipedia
      See also [ edit ] Central nervous system European Brain Council Human brain ICD-10 Chapter VI: Diseases of the nervous system Mental disorder Neuroplasticity Peripheral nervous system Hypokalemic sensory overstimulation References [ edit ] ^ KT, Thakur; E, Albanese; P, Giannakopoulos; N, Jette; M, Linde; MJ, Prince; TM, Steiner; T, Dua (14 March 2016). ... PMID 27719835 . ^ NIMH publications (2009) Neuroimaging and Mental Illness External links [ edit ] Classification D ICD - 10 : Xxx.x ICD - 9-CM : xxx MeSH : D009422 Disorder Index of the National Institute of Neurological Disorders and Stroke v t e Nervous system Central nervous system Meninges Spinal cord Brain Hindbrain Medulla Pons Cerebellum Midbrain Forebrain Diencephalon Retina Optic nerve Cerebrum Limbic system Peripheral nervous system Somatic Sensory nerve Motor nerve Cranial nerve Spinal nerve Autonomic Sympathetic Parasympathetic Enteric v t e Mental and behavioral disorders Adult personality and behavior Gender dysphoria Ego-dystonic sexual orientation Paraphilia Fetishism Voyeurism Sexual maturation disorder Sexual relationship disorder Other Factitious disorder Munchausen syndrome Intermittent explosive disorder Dermatillomania Kleptomania Pyromania Trichotillomania Personality disorder Childhood and learning Emotional and behavioral ADHD Conduct disorder ODD Emotional and behavioral disorders Separation anxiety disorder Movement disorders Stereotypic Social functioning DAD RAD Selective mutism Speech Stuttering Cluttering Tic disorder Tourette syndrome Intellectual disability X-linked intellectual disability Lujan–Fryns syndrome Psychological development ( developmental disabilities ) Pervasive Specific Mood (affective) Bipolar Bipolar I Bipolar II Bipolar NOS Cyclothymia Depression Atypical depression Dysthymia Major depressive disorder Melancholic depression Seasonal affective disorder Mania Neurological and symptomatic Autism spectrum Autism Asperger syndrome High-functioning autism PDD-NOS Savant syndrome Dementia AIDS dementia complex Alzheimer's disease Creutzfeldt–Jakob disease Frontotemporal dementia Huntington's disease Mild cognitive impairment Parkinson's disease Pick's disease Sundowning Vascular dementia Wandering Other Delirium Organic brain syndrome Post-concussion syndrome Neurotic , stress -related and somatoform Adjustment Adjustment disorder with depressed mood Anxiety Phobia Agoraphobia Social anxiety Social phobia Anthropophobia Specific social phobia Specific phobia Claustrophobia Other Generalized anxiety disorder OCD Panic attack Panic disorder Stress Acute stress reaction PTSD Dissociative Depersonalization disorder Dissociative identity disorder Fugue state Psychogenic amnesia Somatic symptom Body dysmorphic disorder Conversion disorder Ganser syndrome Globus pharyngis Psychogenic non-epileptic seizures False pregnancy Hypochondriasis Mass psychogenic illness Nosophobia Psychogenic pain Somatization disorder Physiological and physical behavior Eating Anorexia nervosa Bulimia nervosa Rumination syndrome Other specified feeding or eating disorder Nonorganic sleep Hypersomnia Insomnia Parasomnia Night terror Nightmare REM sleep behavior disorder Postnatal Postpartum depression Postpartum psychosis Sexual dysfunction Arousal Erectile dysfunction Female sexual arousal disorder Desire Hypersexuality Hypoactive sexual desire disorder Orgasm Anorgasmia Delayed ejaculation Premature ejaculation Sexual anhedonia Pain Nonorganic dyspareunia Nonorganic vaginismus Psychoactive substances, substance abuse and substance-related Drug overdose Intoxication Physical dependence Rebound effect Stimulant psychosis Substance dependence Withdrawal Schizophrenia , schizotypal and delusional Delusional Delusional disorder Folie à deux Psychosis and schizophrenia-like Brief reactive psychosis Schizoaffective disorder Schizophreniform disorder Schizophrenia Childhood schizophrenia Disorganized (hebephrenic) schizophrenia Paranoid schizophrenia Pseudoneurotic schizophrenia Simple-type schizophrenia Other Catatonia Symptoms and uncategorized Impulse control disorder Klüver–Bucy syndrome Psychomotor agitation Stereotypy
  • Alzheimer Disease 2 OMIM
    A number sign (#) is used with this entry because of the association between late-onset Alzheimer disease-2 (AD2) and the apolipoprotein E (107741) E4 allele. For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. ... Sillen et al. (2006) conducted a genomewide linkage study on 188 individuals with AD from 71 Swedish families, using 365 markers (average intermarker distance 8.97 cM).
    TOMM40, TREM2, ABCA7, APP, APOE, PSEN2, PSEN1, MAPT, SORL1, PRNP, CASP3, BACE1, GSK3B, NCSTN, IDE, IL1B, HFE, A2M, ACE, DHCR24, BIN1, ESR1, ADAM10, ADAMTS1, PGRMC1, VEGFA, ARC, CYP46A1, SLC30A4, VSNL1, PICALM, HMOX1, HLA-DRB5, IGF1R, IGF1, INPP5D, IGF2, MPO, NPY, NOS3, PLAU, PLCG2, PPARG, RELN, MTHFR, PYY, NECTIN2, SLC2A4, IGF2R, SOD2, MAOB, TF, LEP, TFAM, INSR, INS, TNF, TPI1, EPHA1, F2, ENO1, CR1, CASS4, ATP5F1A, CLU, CHRNB2, CHRNA7, MIR766, CD33, IQCK, EIF2S1, MIR505, APOC1, CALM1, MIR100, MIR146A, BDNF, BCL2, MIR375, MIR296, BCHE, MIR708, TPP1, SLC30A6, SNAR-I, DPYSL2, ACHE, CD2AP, GAPDHS, PCDH11X, CYP2D6, MIR4467, CRH, MIR3622B, BAX, AMFR, ABI3, CST3, MS4A4A, WWOX, BRCA2, FANCD2, TFF1, TAS2R64P, CTNNB1, SUCLA2, SNCA, CTSD, RNR2, NEFL, TAS2R62P, SOD1, ITPR3, ITPR2, ITPR1, FLAD1, PSENEN, TP53, CDK5R1, EIF2AK3, UBQLN1, ALG3, PIK3CG, PIK3CA, PIK3CD, SERPINA3, PIK3CB, DOCK3, APLP1, OGDH, CREB1, NOTCH1, CASP6, NGF, CCND1, FOS, DLX4, DLG4, DDIT3, RABGEF1, PEBP1, PYCARD, DAPK2, KCNIP3, CTSB, CSF2, CRMP1, CTSG, EHMT2, ENO2, ERBB4, TMED10, TERF2IP, PTK2B, FCN2, PTGES3, FGF2, ACKR1, DNM1L, SDC3, G6PD, GCHFR, ITM2B, CREBBP, MAP3K8, TRPM7, ADI1, MTCO2P12, UPK3B, ACTB, AKT1, AKT2, ANXA1, APBB1, DNLZ, STS, MIR34A, BRCA1, MIR137, C5AR1, DDR1, CAMK4, TMED10P1, MPEG1, C9orf72, ESCO1, CDCA5, PRRT2, MAP1LC3B, CAT, EHMT1, CNR2, SPPL2B, RAB9A, NRXN3, GFAP, SYNJ1, SERPINB5, CD99, MME, MNAT1, CCL2, RRAS, RPS27, RPS21, RAP1A, PYCR1, COX2, PTS, PTGS2, MTHFD1, MMUT, NCAM1, NFIA, NFIB, MAPK8, MAPK3, PRKCB, PRKCA, PPBP, MED1, NFIC, PPARA, NFIX, PKD1, NOTCH3, NRGN, MEOX2, MEF2A, SPRR2A, TTC3, GRIN2A, DENR, GRIN2B, RAB7A, LRP8, HPRT1, HSP90AA1, VIM, IDUA, UTRN, SUMO1, UBE2I, TTK, TPT1, SULT1E1, IL1A, IL6, IL12A, TSPAN6, TIE1, TGFB1, TG, KNG1, LAMC2, LGALS3, TERT, TERC, STIM1, H3P17
    • Alzheimer Disease 13 OMIM
      For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping Liu et al. (2007) conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that was conducted in an isolated population from the southwestern area of the Netherlands. Genealogic information resulted in an extremely large and complex pedigree of 4,645 members. The pedigree was split into 35 subpedigrees to reduce the computational burden of linkage analysis. The strongest evidence for linkage, hlod = 5.20 at marker D1S498, was obtained at chromosome 1q21 (AD13).
    • Early-Onset Autosomal Dominant Alzheimer Disease GARD
      Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. All subtypes are inherited in an autosomal dominant manner. There is no cure for AD.
    • Alzheimer Disease 11 OMIM
      For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300. Mapping By genomewide linkage analysis of 466 families with late-onset AD, including 730 affected sib pairs, Pericak-Vance et al. (2000) identified a candidate disease locus on chromosome 9p22.1 (nonparametric maximum lod score of 2.97 at marker D9S741). Analysis of a subset of 199 families in which there was at least 1 autopsy-confirmed AD case yielded a higher lod score of 4.31 at the same marker. Scott et al. (2003) reexamined 437 white AD families included in the original report by Pericak-Vance et al. (2000) by considering age of onset as a covariate. Ordered-subsets analysis included continuous covariates in linkage analysis by rank ordering families by a covariate and summing lod scores.
    • Alzheimer Disease 6 OMIM
      Description Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by Grupe et al., 2006). The Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial (Grupe et al., 2006).
    • Alzheimer Disease 5 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300. Mapping In a late-onset form of familial Alzheimer disease (AD), Pericak-Vance et al. (1997) identified linkage to a locus on chromosome 12. From a series of multiplex families affected with late-onset AD (at least 60 years) ascertained during the previous 14 years and for which DNA had been obtained, Pericak-Vance et al. (1997) selected a subset of 16 families (with 52 AD patients) to use for a genomewide screen. A second subset of 38 families (with 89 AD patients) was used for a follow-up analysis. Linkage analysis was performed using both genetic model-dependent (lod score) and model-independent methods.
    • Alzheimer Disease OMIM
      A number sign (#) is used with this entry because of evidence that familial Alzheimer disease-1 (AD1) is caused by mutation in the gene encoding the amyloid precursor protein (APP; 104760) on chromosome 21q. A homozygous mutation in the APP gene with a dominant-negative effect on amyloidogenesis was found in a patient with an early-onset progressive dementia and his affected younger sister (104760.0022). A coding single-nucleotide polymorphism (SNP) in the APP gene (104760.0023) has been shown to have a protective effect against Alzheimer disease. See also APP-related cerebral amyloid angiopathy (CAA; 605714), which shows overlapping clinical and neuropathologic features. Description Alzheimer disease is the most common form of progressive dementia in the elderly.
    • Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology OMIM
      Clinical Features Leuba et al. (2000) described a Swiss family whose members presented with standard clinical and neuropathologic features of Alzheimer disease (104300) and, in particular, severe neurofibrillary tangle degeneration present in the hippocampus and in several cortical areas, together with a large number of beta-amyloid deposits and senile plaques. The brain pathology of 5 deceased members of this family, from 2 generations, represented a coexisting beta-amyloid and prion protein (PrP; 176640) pathology. Frequent beta-amyloid-positive senile plaques were observed, together with senile plaques stained by the monoclonal antibody against PrP(106-126). In all 5 cases, the cerebral cortex showed spongiform changes, mainly in the superficial layers, with some degree of gliosis. Successive sections showed that both beta-amyloid- and PrP-positive senile plaques were deposited in all layers of the frontal and temporal cortex.
    • Alzheimer Disease 8 OMIM
      ., age either at last exam or at death) who lacked E4 alleles at the apolipoprotein E (APOE; 107741) locus. In further use of a covariate-based linkage method to reanalyze genome scan data, Olson et al. (2002) determined that a region on chromosome 20p showed the same pattern.
    • Early-Onset Autosomal Dominant Alzheimer Disease Orphanet
      Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. Epidemiology EOAD represents less than 1% of all cases of AD. Clinical description Initial findings of EOAD are mainly disorders of episodic memory or changes in behavior. The patient is often anosognosic and the diagnosis is therefore carried out with the help of a family member. Neurological signs that can be associated with EOAD are spastic paraparesis, intracerebral hemorrhages, seizures, extrapyramidal syndrome and exceptionally cerebellar ataxia.
    • Alzheimer Disease 4 OMIM
      A number sign (#) is used with this entry because Alzheimer disease-4 (AD4) is caused by heterozygous mutation in the presenilin-2 gene (PSEN2; 600759) on chromosome 1q42. For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Clinical Features Bird et al. (1988) described 5 German kindreds with an autosomal dominant early-onset form of Alzheimer disease. All families were descendants of a group of immigrants, known as the Volga Germans, who came to the United States between 1870 and 1920. Their ancestors had moved from Germany to the southern Volga region of Russia in the 1760s.
    • Familial Alzheimer Disease GARD
      Familial Alzheimer disease (familial AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes: (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. The condition known as late-onset familial AD includes only the subtype Alzheimer disease, type 2 and is associated with the APOE *4 allele on chromosome 19.
    • Alzheimer Disease 15 OMIM
      For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping Liu et al. (2007) conducted a genome screen of 103 patients with late-onset AD who were ascertained as part of the Genetic Research in Isolated Populations (GRIP) program that was conducted in an isolated population from the southwestern area of the Netherlands. Genealogic information resulted in an extremely large and complex pedigree of 4,645 members. The pedigree was split into 35 subpedigrees to reduce the computational burden of linkage analysis. They found significant evidence of linkage of AD to 3q22-q24 (AD15), in a region of 18 cM from D3S3514 to D3S3626 that reached a maximum hlod of 4.44 at marker D3S1579.
    • Alzheimer Disease 14 OMIM
      For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Mapping In a genome screen of individuals from an isolated population from the southwestern area of the Netherlands, ascertained as part of the Genetic Research in Isolated Populations (GRIP) program, Liu et al. (2007) found the strongest evidence of linkage for chromosome 1q21 (AD13; 611152). Approximately 30 cM upstream of this locus, at 1q25, another peak (AD14) was found (hlod = 4.0 at marker D1S218). Liu et al. (2007) noted that these 2 loci were in a linkage region spanning 1q21-q31 identified by Zubenko et al. (1998), Hiltunen et al. (2001), Myers et al. (2002), and Blacker et al. (2003). Haplotype analysis showed that the 2 linkage peaks on chromosome 1q21 and 1q25 are explained by different haplotypes, of 15 cM and 21 cM, respectively, segregating in different families.
    • Alzheimer Disease 12 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300. Mapping Giedraitis et al. (2006) conducted a genome scan with 369 microsatellite markers in 12 extended families collected in Sweden. Age at disease onset ranged from 53 to 78 years, but in 10 of the families there was at least 1 member with age at onset of less than 65 years. Mutations in known early-onset Alzheimer disease susceptibility genes were excluded. All persons were genotyped for APOE (107741), but no clear linkage with the E4 allele was observed.
    • Alzheimer Disease 3 OMIM
      A number sign (#) is used with this entry because early-onset familial Alzheimer disease-3 (AD3) is caused by heterozygous mutation in the presenilin-1 gene (PSEN1; 104311) on chromosome 14q24. For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300. Clinical Features Campion et al. (1995) studied a large pedigree that included 34 subjects with early-onset progressive dementia with mean age at onset at 46 plus or minus 3.5 years and mean age at death at 52.6. Myoclonus and extrapyramidal signs were common; seizures were present in all affected subjects. There were neuropathologic changes typical of Alzheimer disease in the 2 brains examined.
    • Alzheimer Disease 10 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300. Mapping In an extended multiplex family, ascertained in a population-based study of early-onset AD in the northern Netherlands, Rademakers et al. (2005) obtained conclusive evidence of linkage of AD with a candidate region of 19.7 cM at 7q36. They identified a shared haplotype at 7q36 between the index family and 3 of 6 multiplex AD-affected families from the same geographic region, which was indicative of a founder effect and defined a priority region of 9.3 cM. Mutation analysis of coding exons of 29 candidate genes identified only an exonic silent mutation in the PAXIP1 gene (608254), 38030G-C in the exon 10 genomic sequence, which affected codon 626. It remained to be determined whether PAXIP1 has a functional role in the expression of AD in the index family or whether another mutation at this locus explained the observed linkage and sharing.
    • Alzheimer Disease 7 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300. Mapping In a systematic survey of the human genome in patients with AD, Zubenko et al. (1998) identified D10S1423, located at 10p13, as a candidate susceptibility locus. The allelic associations in this survey were observed in independent samples of autopsied AD cases and controls from geographically disparate sites (Boston and Pittsburgh). Majores et al. (2000) replicated these findings by identifying an association of the D10S1423 234-bp allele with AD in an ethnically homogeneous group of 397 German AD cases and controls. Zubenko et al. (2001) described a prospective, longitudinal, double-blind assessment of the age-specific risk of AD encountered by 325 asymptomatic first-degree relatives of AD probands who carried the D10S1423 234-bp allele, the APOE E4 allele (107741), or both, after 11.5 years of systematic follow-up.
  • Maxillary Lateral Incisor Agenesis Wikipedia
    This technique has been used to study a group of Neolithic farmers . [8] Non-metric morphological traits, also known as epigenetic or anatomical variants, are a great tool for detecting individuals who are genetically related in historic populations if DNA is not well preserved. [7] The method used is non-metric cranial and dental traits, which has already been tested on several burial sites. [7] Identifying individuals who are genetically related from past populations is very important in order to determine if the families share a number of characteristics and phenotypical traits. [7] Traits that are used for kinship analysis must be determine by genetic factors, must be rare in the general population, and the individual traits must be genetically independent from each other. [7] The traits that are closely examined include: anatomical variants of tooth crowns and roots; shape, size, number, structure, and position of the teeth. [7] See also [ edit ] Hypodontia References [ edit ] ^ a b c d e Vastardis H (June 2000). "The genetics of human tooth agenesis: new discoveries for understanding dental anomalies". ... Special Section: Gene Regulatory Networks for Development. 340 (2): 438–49. doi : 10.1016/j.ydbio.2010.01.031 . PMID 20123092 . ^ a b c d e f Mostowska A, Kobielak A, Trzeciak WH (October 2003). ... European Journal of Oral Sciences . 111 (5): 365–70. doi : 10.1034/j.1600-0722.2003.00069.x . ... American Journal of Orthodontics and Dentofacial Orthopedics . 137 (6): 732.e1-6, discussion 732–3. doi : 10.1016/j.ajodo.2009.12.024 . PMID 20685523 . ^ a b c d e f g h Alt KW, Benz M, Müller W, Berner ME, Schultz M, Schmidt-Schultz TH, et al. (2013-06-11). ... Archived from the original on 2013-06-22 . Retrieved 20 June 2013 . v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
  • Escherichia Coli O104:h4 Wikipedia
    PMID 21799941 . ^ "BGI Sequences Genome of the Deadly E. coli in Germany and Reveals New Super-Toxic Strain" . ... Retrieved 2011-06-02 . ^ Maev Kennedy and agencies (2011-06-02). " E. coli outbreak: WHO says bacterium is a new strain" . ... Web. 08 Nov. 2011. < http://www.efsa.europa.eu/en/efsajournal/pub/2390 >. ^ a b Gorman, Christine. "E. Coli on the March: Scientific American." ... Web. 08 Nov. 2011. < http://www.scientificamerican.com/article.cfm?id=e-coli-on-the-march >. ^ "July 8, 2011: Outbreak of Shiga Toxin-producing E. Coli O104 (STEC O104:H4) Infections Associated with Travel to Germany | E. Coli." Centers for Disease Control and Prevention.
  • Adult-Onset Still's Disease Wikipedia
    The number of new cases per year is estimated to be 1.6 per 1,000,000 population. [1] The number of people currently affected is estimated at 1.5 cases per 100,000–1,000,000 population. [ citation needed ] Onset is most common in two age ranges, between ages 16–25 and between ages of 36–46 years. [20] History [ edit ] Still's disease is named after English physician Sir George Frederic Still (1861–1941). [21] [22] The adult-onset version was characterized by E. G. Bywaters in 1971. [1] Research directions [ edit ] Researchers are investigating whether levels of a protein named calprotectin could be used to improve diagnosis and monitoring. [23] See also [ edit ] Juvenile idiopathic arthritis The Big Sick References [ edit ] ^ a b c d e Akkara Veetil BM, Yee AH, Warrington KJ, Aksamit AJ Jr, Mason TG (December 2012). ... Expert Review of Clinical Immunology . 14 (5): 351–365. doi : 10.1080/1744666X.2018.1465821 . ... Classification D ICD - 10 : M06.1 ICD - 9-CM : 714.2 MeSH : D016706 DiseasesDB : 34295 External resources MedlinePlus : 000450 Orphanet : 829 v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte
    IL1B, IL18, TNF, IL1A, IL6, MEFV, IFNG, RBM45, NLRP3, HLA-DRB1, CXCL10, IL18BP, IL10, SMUG1, HMOX1, MIF, MAP4K3, GCK, TNFRSF1A, CRP, CD68, CASP1, CXCR4, SQSTM1, TP53, FCGR2C, TLR4, STAT3, AIM2, KHDRBS1, ATG5, RTN3, CXCL12, NUP62, IL37, DCTN4, PLAC8, IL23A, NOD2, CLEC7A, IL33, NLRP12, MIR134, MIR141, SELL, ACR, CCL2, SAFB, FAS, FASLG, BAG1, CLU, FCGR1A, FCGR2A, FCGR2B, GNAO1, CXCR3, GTF2H1, HLA-DPB1, HLA-DQB1, HLA-DQB2, ICAM1, IFI16, CCN1, IL1RN, IL4, CXCL8, IL15, IL17A, ITGAM, ALB, MPO, RARB, SAA1, SAA2, MIR29A
    • Adult Still Disease Mayo Clinic
      Overview Adult Still disease is a rare type of inflammatory arthritis. Common symptoms are fevers, rash and joint pain. The condition can occur in some people as a single episode that goes away. In other people, the condition doesn't go away, or it goes away but comes back. Adult Still disease can damage joints, particularly the wrists. Treatment involves medicine to reduce pain and help control the disease. Prednisone is often used if pain relievers such as ibuprofen (Advil, Motrin IB, others) are not enough.
    • Adult-Onset Still's Disease GARD
      Adult-onset Still's disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin , a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat. In some cases, symptoms may be severe and lead to organ and joint damage. The cause of AOSD is unknown, but genetic and other unknown factors may be involved.
  • Breast Fetishism Wikipedia
    "Mate preferences among Hadza hunter-gatherers" (PDF) . Human Nature . 15 (4): 365–376. doi : 10.1007/s12110-004-1014-8 . ... ISBN 978-0-224-07250-2 . , p.138 ^ Dickson, E. J. "America prefers butts to boobs, says Pornhub study" . thedailydot.com . ... Penguin Books, p. 105. ^ Morrison, D. E., & Holden, C. P. (1971). "The Burning Bra: The American Breast Fetish and Women's Liberation". ... International Press of Sexology. ASIN B0007HAEES Morrison, D. E., and C. P. Holden. (1971). The Burning Bra: The American Breast Fetish and Women's Liberation. ... Look up mastofact or mazophilia in Wiktionary, the free dictionary. v t e Paraphilias List Abasiophilia Acrotomophilia Agalmatophilia Algolagnia Apotemnophilia Autassassinophilia Biastophilia Capnolagnia Chremastistophilia Chronophilia Coprophagia Coprophilia Crurophilia Crush fetish Dacryphilia Dendrophilia Emetophilia Eproctophilia Erotic asphyxiation Erotic hypnosis Erotophonophilia Exhibitionism Formicophilia Frotteurism Gerontophilia Homeovestism Hybristophilia Infantophilia Kleptolagnia Klismaphilia Lactaphilia Macrophilia Masochism Mechanophilia Microphilia Narratophilia Nasophilia Necrophilia Object sexuality Odaxelagnia Olfactophilia Omorashi Paraphilic infantilism Partialism Pedophilia Podophilia Plushophilia Pyrophilia Sadism Salirophilia Scopophilia Somnophilia Sthenolagnia Tamakeri Telephone scatologia Transvestic fetishism Trichophilia Troilism Urolagnia Urophagia Vorarephilia Voyeurism Zoophilia Zoosadism See also Other specified paraphilic disorder Erotic target location error Courtship disorder Polymorphous perversity Sexual fetishism Human sexual activity Perversion Sexology Book Category v t e Sexual fetishism Actions, states Aquaphilia Autassassinophilia Coprophilia Cuckold / Cuckquean Emetophilia Erotic hypnosis Erotic lactation Erotic spanking Exhibitionism Forced seduction Gaining and feeding Medical fetishism Omorashi Paraphilic infantilism (adult baby) Pregnancy Smoking Tickling Total enclosure Transvestic Tightlacing Tamakeri Urolagnia Vorarephilia Wet and messy fetishism Body parts Armpit Breast Belly Buttocks Eyeball Fat Feet Hands Height Hair Legs Navels Noses Clothing Boots Ballet boots Boot worship Thigh-high boots Clothing Corset Diapers Gloves Pantyhose Latex Rubber and PVC Shoes Spandex Underwear Uniforms Objects Balloons Dolls Latex and PVC Robots Spandex Controversial / illegal Lust murder Necrophilia Rape fantasy Zoophilia Culture / media Artists Fetish art Fetish clubs Fashion Magazines Models Race Asian sexual fetishism Ethnic pornography Sexual racism Related topics BDSM FetLife International Fetish Day Kink Leather subculture Leather Pride flag Sexual roleplay Book Category
  • Hereditary Pancreatitis Wikipedia
    For example, HP typically has an earlier age of pancreatitis onset; although malabsorption and diabetes mellitus occur at a later stage in the disease progression. [5] Genetics [ edit ] The vast majority of the cases of HP are caused by substitutions, at base 365 (c.365G>A) and base 86 of the cDNA (c.86A>T) on the PRSS1 gene. ... PMID 18511571 . S2CID 24473962 . ^ Kereszturi E, Szmola R, Kukor Z, et al. (April 2009). ... External links [ edit ] Classification D ICD - 10 : K86.1 OMIM : 167800 DiseasesDB : 30026 SNOMED CT : 68072000 External resources Orphanet : 676 v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease
    SPINK1, PRSS1, CTRC, CFTR, PRSS2, CPA1, CASR, HP, STAT6, OR10A4, NAB2, MSR1, ELAC2, TP53, PCAP, RNASEL, GAST, CBX4, NGFR, KLK3, CD274, LGR5, NPEPPS, TNF, PIK3CA, IL10, PROS1, CTSB, CRP, PIK3CB, PSAT1, PRSS3, PLAG1, BRCA2, PIK3CG, CDKN2A, COX2, PIK3CD, VEGFA, UBB, TSC2, SERPINA1, TGFB1, PTGS2, TLR4, SYP, SRD5A2, S100A8, SOX9, S100A9, MAPK3, ABL2, CLDN1, CRISPLD2, PINX1, SPHK2, SMURF1, EHMT1, CAMKMT, APOL3, PANX3, ADIPOQ, PRSS58, MIR204, HPC3, ZGLP1, MIR4270, MTCO2P12, PGPEP1, DLL4, FOXP3, MBL3P, BHLHE22, AMACR, HEY1, CELA3B, LZTS1, NCOA2, HOXB13, DLC1, HDAC6, MAGEC1, PECAM1, HDAC9, HPCX, PGR, MUC5AC, PDCD1, DSPP, CDKN1C, CP, CPB2, CLDN7, CYP1B1, CYP17A1, EEF1B2P2, CDK2, EPHB4, ERBB2, ERCC1, F13A1, FAP, FCGR2B, CDKN1B, CDH1, GCG, BDNF, APC, BIRC2, APP, RERE, CCND1, BCL2, BGN, CD40, BRAF, CALM1, CALM2, CALM3, CCKBR, KRIT1, FOXD1, GDNF, PCNA, MLH1, MAP2, MBL2, MGMT, MGST1, CD99, MIF, MMP9, LCN2, MPO, MUC1, ABO, MUC6, NGF, NOTCH1, EPCAM, KRT19, GLP1R, HDGF, GPI, GPT, GSTM1, GSTM3, GSTT1, HDAC1, HIF1A, IRF1, HLA-DQA1, HLA-DQB1, IL1A, IL1B, IL4, CXCL8, H3P10
    • Hereditary Pancreatitis GARD
      Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas ( pancreatitis ), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting. People with hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include fatty stools, weight loss, and poor absorption of nutrients from food. Adults with hereditary pancreatitis are at an increased risk for type 1 diabetes and pancreatic cancer.
    • Hereditary Chronic Pancreatitis Orphanet
      A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas. Epidemiology The estimated prevalence of hereditary chronic pancreatitis (HCP) is approximately 1/300,000 people in Europe (1/800,000 in Germany, approximately 1/333,335 in France and approximately 1/175,440 in Denmark). Clinical description Onset of HCP is typically early in life, during childhood and adolescence. The clinical presentation is highly variable and includes chronic or intermittent mild to severe abdominal pain associated with exocrine pancreatic insufficiency, leading to maldigestion and/or pancreatic endocrine insufficiency (glucose intolerance progressing to diabetes mellitus type 3c) in some cases.
    • Pancreatitis, Hereditary OMIM
      A number sign (#) is used with this entry because of evidence that chronic pancreatitis can be caused by mutation in the cationic trypsinogen gene PRSS1 (276000) and the SPINK1 gene (167790). Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR; 602421). A missense variant in the PRSS2 gene (601564.0001) confers protection against chronic pancreatitis. Variants in the chymotrypsin C gene (601405) that diminish activity or secretion are associated with chronic pancreatitis. Clinical Features Gross et al. (1962) described a kindred with affected persons in 4 generations.
    • Hereditary Pancreatitis MedlinePlus
      Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin , a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting.
  • Red Eye (Medicine) Wikipedia
    American Academy Ophthalmology. p. 365. ISBN 1-56055-814-8 . ^ "Keratoconjunctivitis, Sicca" . eMedicine . ... Classification D ICD - 10 : H57.9 ICD - 9-CM : 379.93 DiseasesDB : 18665 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
    CDKN2A
  • Hemolytic–uremic Syndrome Wikipedia
    E. coli can produce stx1 and/or stx2 Shiga toxins, the latter being more dangerous. ... PMC 3262387 . PMID 22287852 . ^ a b c d e Loirat, C; Noris, M; Fremaux-Bacchi, V (2008). ... J Am Soc Nephrol . 18 (8): 2392–2400. doi : 10.1681/ASN.2006080811 . PMID 17599974 . ^ a b c d e f g h Noris, M.; Caprioli, J.; Bresin, E.; et al. (2010). ... "Vaccines for viral and bacterial pathogens causing acute gastroenteritis: Part II: Vaccines for Shigella, Salmonella, enterotoxigenic E. coli (ETEC) enterohemorragic E. coli (EHEC) and Campylobacter jejuni" . ... "Hemolytic–uremic syndrome". Pediatr Rev . 22 (11): 365–9. doi : 10.1542/pir.22-11-365 .
    CD46, DGKE, C3, CFB, CFH, IL6, IL1B, TNF, NQO1, ALB, IL1A, EPO, CCL2, ADAMTS13, CFI, CFHR1, THBD, CFHR3, MMACHC, PRDX1, STX1A, TRIM25, STX2, VWF, CAPG, RNR2, ST8SIA2, IL10, PCSK5, PLG, SH3BP4, MTHFR, CXCR4, F3, MCHR2, CXCL12, ZFP36, TLR4, CCR2, LIPG, PLA2G7, ST11, MIR126, GRHPR, WT1, AIMP2, ACKR3, GADL1, SUMF2, A4GALT, CLEC1B, DBR1, DESI1, HPLH1, CFHR5, POLDIP2, RNF19A, IL33, GRAP2, CADM1, NT5C2, AZIN2, SLC35G1, IL24, RAB7B, NLE1, AHSA1, ABO, SAA2, TP53, FGF2, EDN1, SLC25A10, MAPK14, CRK, CPB2, CLU, CDA, CD40LG, CD22, CAT, CASP1, VPS51, C4BPA, C3AR1, APCS, ANGPT2, ANGPT1, FABP1, FHL1, TM7SF2, HLA-DRB1, TGFB1, SPARC, CX3CL1, CCL20, CCL4, AGT, SAA1, REN, MAPK1, COX1, MATK, IL18, CXCL8, IL4R, IL2RA, IFNB1, HMGB1, RN7SL263P
    • Hemolytic Uremic Syndrome GARD
      Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells.
  • Clonally Transmissible Cancer Wikipedia
    . ^ Gärtner HV, Seidl C, Luckenbach C, Schumm G, Seifried E, Ritter H, Bültmann B (November 1996). ... "Somatic evolution and global expansion of an ancient transmissible cancer lineage" . Science . 365 (6452): eaau9923. doi : 10.1126/science.aau9923 . ... PMID 20963591 . ^ Siddle HV, Kreiss A, Eldridge MD, Noonan E, Clarke CJ, Pyecroft S, et al. (October 2007). ... Nature Communications . 7 (1): 12684. doi : 10.1038/ncomms12684 . ISSN 2041-1723 . ^ Yong E (2015-04-09). "Selfish shellfish cells cause contagious clam cancer" . ... Nanobe Cancer cell HeLa Clonally transmissible cancer v t e Life , non-cellular life , and comparable organic structures Life Archaea Bacteria Eukaryota Animalia Fungi Plantae ' Protista ' Parakaryon Nanobacterium (?)
  • Fear Of Crime Wikipedia
    Philadelphia: Temple University Press. ^ a b Girling, E., Loader, I. & Sparks, R. (2000). ... British Journal of Criminology, 44, 127-132. ^ Gray, E., Jackson, J. and Farrall, S. (2008). ... A Psychological Perspective on Vulnerability in the Fear of Crime. Psychology, Crime and Law, 15, 4, 365-390. ^ Warr, M. (1987). Fear of victimisation and sensitivity to risk. ... British Journal of Social Psychology, 42(3), 461-476. ^ Goffman, E. (1971) Relations in Public. New York: Basic Books. ^ Farrall, S., Jackson, J. and Gray, E. (2009). ... British Journal of Criminology, 44, 6, 946-966. ^ Farrall, S., Jackson, J. and Gray, E. (October 2009). 'Social Order and the Fear of Crime in Contemporary Times'.
  • Opsoclonus Myoclonus Syndrome Wikipedia
    . ^ Baets, J; Pals, P; Bergmans, B; Foncke, E; Smets, K; Hauman, H; Vanderwegen, L; Cras, P (2006). ... PMID 16638509 . ^ Pranzatelli, M. R.; Tate, E. D.; Dukart, W. S.; Flint, M. J.; Hoffman, M. T.; Oksa, A. E. (2005). "Sleep disturbance and rage attacks in opsoclonus-myoclonus syndrome: response to trazodone". ... PMID 15342979 . S2CID 38910287 . ^ a b Rudnick E, Khakoo Y, Antunes NL, Seeger RC, Brodeur GM, Shimada H, Gerbing RB, Stram DO, Matthay KK (June 2001). ... Further reading [ edit ] Mitchell WG, Davalos-Gonzalez Y, Brumm VL, Aller SK, Burger E, Turkel SB, Borchert MS, Hollar S, Padilla S (January 2002).
    POMC, CSF2, LAMC2, CCR4, GPI, IGF1, MYCN, PIK3CA, PIK3CB, PIK3CD, PIK3CG, CCL17, CCL22, KCTD7
    • Opsoclonus-Myoclonus Syndrome Orphanet
      Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. Epidemiology The annual incidence is estimated at around 1/5,000,000. Clinical description OMS typically presents between 1 and 3 years of age, although it can occur earlier or later in childhood. It is characterized by opsoclonus (rapid, multi-directional, conjugate eye movements), myoclonic jerks, ataxia, irritability and sleep disturbances. The clinical course may be monophasic or chronic relapsing. OMS is associated in approximately 50% of pediatric cases with a neuroblastoma (see this term); this tumour is usually (but not always) of low grade with a good oncological outcome.
    • Opsoclonus-Myoclonus Syndrome GARD
      Opsoclonus-myoclonus syndrome (OMS) is a rare disorder that affects the nervous system. Symptoms include rapid, multi-directional eye movements (opsoclonus), quick, involuntary muscle jerks ( myoclonus ), uncoordinated movement (ataxia), irritability, and sleep disturbance. The onset of OMS is usually abrupt and often severe. The disease may become chronic. OMS typically occurs in association with tumors ( neuroblastomas ), or following a viral or bacterial infection. Treatment may include corticosteroids or ACTH ( adrenocorticotropic hormone ).
  • Generalized Pustular Psoriasis Wikipedia
    . ^ a b c Griffiths CE , Christophers E, Barker JN, Chalmers RJ, Chimenti S, Krueger GG, Leonardi C, Menter A, Ortonne JP, Fry L (2007). ... Pediatr Dermatol . 27 (4): 349–54. doi : 10.1111/j.1525-1470.2010.01084.x . PMID 20403118 . ^ a b c d e Farber EM, Nall L (1993). "Pustular psoriasis". ... PMID 8419106 . ^ Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A (2011). "Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis". N. Engl. J. Med . 365 (7): 620–8. doi : 10.1056/NEJMoa1013068 .
    IL36RN, AP1S3, TNF, IL17A, CARD14, IL1RL2, IL17RA, IL1B, IL37, IL1A, CRP, CAMP, IL22, IL20, IL19, PIPOX, IL23A, ATG16L1, NLRP1, IL24, MMEL1, OLFM4, TNIP1, TNFAIP3, APOE, TLR4, SELENOP, CDK9, CCR6, DSP, FGFR3, CXCL1, HLA-A, HLA-C, HLA-DQB1, IFNG, IL1RN, IL6, CXCL8, CXCR2, LTA, CFB, PLXNB1
    • Generalized Pustular Psoriasis GARD
      Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner.
    • Psoriasis 14, Pustular OMIM
      A number sign (#) is used with this entry because pustular psoriasis-14 (PSORS14) is caused by homozygous or compound heterozygous mutation in the IL36RN gene (605507) on chromosome 2q14. Description Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see 177900); however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013). GPP in association with sterile multifocal osteomyelitis and periostitis (612852) is caused by mutation in the IL1RN gene (147679).
    • Generalized Pustular Psoriasis Orphanet
      Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
    • Psoriasis 15, Pustular, Susceptibility To OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to pustular psoriasis-15 (PSORS15) is conferred by heterozygous mutation in the AP1S3 gene (615781) on chromosome 2q36. For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900). Molecular Genetics Setta-Kaffetzi et al. (2014) performed whole-exome sequencing in 9 patients with acral pustular psoriasis (acrodermatitis continua of Hallopeau) who were negative for mutation in the CARD14 (607211) and IL36RN (605507) genes, and identified heterozygosity for a missense mutation in the AP1S3 gene (R33W; 615781.0001) in 4 patients. Subsequent screening of 119 unrelated British patients with pustular psoriasis, including 112 with the palmoplantar form (PPP), 5 with the generalized form (GPP), and 2 with the acral form, revealed the same R33W missense mutation in 5 additional patients, 4 with PPP and 1 with GPP; in addition, 6 patients, 5 with PPP and 1 with GPP, were heterozygous for another missense mutation (F4C; 615781.0002) in the AP1S3 gene. Overall, Setta-Kaffetzi et al. (2014) observed that AP1S3 variants were detected in all forms of pustular psoriasis but were noticeably enriched among patients with the acral form and significantly underrepresented within the PPP dataset.
  • Bruce Effect Wikipedia
    JSTOR 2460637 . ^ Eleftheriou, Basil E.; Bronson, F. H.; Zarrow, M. X. (1962). ... PMID 7378528 . ^ Packer, C.; Pusey, A. E. (1983). "Adaptations of Female Lions to Infanticide by Incoming Males". ... Boston: Pearson. p. 335 . ISBN 978-0205239399 . ^ a b c d e Guzzo, A. C; Berger, R. G; Decatanzaro, D. (2009). ... PMID 18601710 . ^ a b c Rosser, A. E.; Remfry, C. J.; Keverne, E. B. (1989). ... Pennsylvanicus and Peromyscus maniculatus" . Reproduction . 49 (2): 365–7. doi : 10.1530/jrf.0.0490365 .
  • Porencephaly Wikipedia
    CS1 maint: multiple names: authors list ( link ) ^ a b c d e f g h i Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ... CS1 maint: multiple names: authors list ( link ) ^ a b c d e f g h Yoneda Y., Haginoya K., Arai H., Yamaoka S., Tsurusaki Y.; et al. (2012). ... CS1 maint: multiple names: authors list ( link ) ^ a b c d e f Shimizu M., Maeda T., Izumi T. (2012). ... J Matern Fetal Neonatal Med . 18 (6): 361–365. doi : 10.1080/14767050400029574 .
    COL4A1, COL4A2
    • Autosomal Dominant Porencephaly Type I Wikipedia
      NIH/Genetics Home Reference . Retrieved 1 July 2017 . ^ a b c d e "Autosomal Dominant Porencephaly Type I - NORD (National Organization for Rare Disorders)" .
    • Brain Small Vessel Disease 2 OMIM
      A number sign (#) is used with this entry because of evidence that brain small vessel disease-2 (BSVD2) is caused by heterozygous mutation in the COL4A2 gene (120090) on chromosome 13q34. Description Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).
    • Brain Small Vessel Disease 1 With Or Without Ocular Anomalies OMIM
      A number sign (#) is used with this entry because of evidence that brain small vessel disease-1 with or without ocular anomalies (BSVD1) is caused by heterozygous mutation in the COL4A1 gene (120130) on chromosome 13q34. Description Brain small vessel disease-1 is an autosomal dominant disorder with variable manifestations resulting from disruption of vascular basement membranes, particularly in the cerebral vasculature. The increased fragility of these vessels render them susceptible to hemorrhage, as early as in utero or by birth trauma, although the risk remains throughout life and some patients may present in adulthood. This genetic predisposition may extend beyond hemorrhagic stroke to include retinal and renal vascular defects. Clinical features thus reflect the location and severity of the vascular defect, including impaired neurologic development or function, hemiplegia, seizures, and variable ocular anomalies.
  • Primary Hyperparathyroidism Wikipedia
    "The parathyroid as a target for radiation damage". N. Engl. J. Med . 365 (7): 676–8. doi : 10.1056/NEJMc1104982 . ... Metab . 92 (5): 1687–92. doi : 10.1210/jc.2006-1836 . PMID 17284629 . ^ Ambrogini E, Cetani F, Cianferotti L, et al. (2007). ... CS1 maint: multiple names: authors list ( link ) ^ Mallet E (2008). "Primary hyperparathyroidism in neonates and childhood. ... External links [ edit ] Classification D ICD - 10 : E21.0 ICD - 9-CM : 252.01 MeSH : D049950 DiseasesDB : 6283 SNOMED CT : 36348003 External resources MedlinePlus : 000384 eMedicine : radio/355 v t e Parathyroid disease Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Hyperparathyroidism Primary Secondary Tertiary Osteitis fibrosa cystica Other Parathyroiditis
    CDC73, PTH, CASR, MEN1, CDKN1B, GCM2, GNA11, AP2S1, VDR, RET, HPT, CTNNB1, CALCA, FGF23, ALB, PTHLH, KL, DMD, BEST1, IL6, NAT10, CCL27, PDLIM3, GRN, GNA12, TNFRSF11B, ASRGL1, NR3C2, CHGA, SLPI, ATRNL1, SPINK1, ALPP, ATHS, CCND1, CFTR, DCTN6, TNFSF10, LPAR3, RAPGEF5, TNFRSF11A, BCAR1, AIP, ZNRD2, ADGRG2, ADAMTS4, ADM, LGR6, HAVCR1, OXER1, TMX2-CTNND1, TMED7-TICAM2, GPR166P, VN1R17P, MIR30E, MIR28, TICAM2, MRGPRX1, GPRC6A, GPR151, DERL2, MRGPRX4, MRGPRX3, CRISPLD2, SLC26A6, RGS5, ZNF410, ADAMTS9, SDHAF2, TMED7, TNFSF11, SDHC, FZD4, ACE, IGFBP3, IGF1, IFI27, GCG, GC, ESR1, EMP1, DMP1, DBP, IL17A, CYP19A1, CTNND1, CSE1L, CD38, BTF3P11, BGLAP, APRT, APC, IL11, JAK2, FZD1, RASA1, FZD5, WNT10B, TNF, TAT, ADAM17, SPP1, SLC12A1, AGT, PTMS, KCNQ1, PSMD9, PRSS2, PRLR, NOS3, MIP, MFAP1, LRP5, LRP2, H3P23
    • Primary Hyperparathyroidism GARD
      Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism .
  • Video Game–related Health Problems Wikipedia
    "The influence of violent media on children and adolescents:a public-health approach" (PDF) . The Lancet . 365 (9460): 702–10. doi : 10.1016/S0140-6736(05)17952-5 . ... GamePolitics.com . 15 June 2009. ^ Burke A, Peper E (2002). "Cumulative trauma disorder risk for children using computer products: results of a pilot investigation with a student convenience sample" . ... Am J Clin Nutr . 94 (1): 156–63. doi : 10.3945/ajcn.110.009142 . PMID 21562081 . ^ Biddiss E, Irwin J (July 2010). "Active video games to promote physical activity in children and youth: a systematic review" . ... PMID 20603468 . ^ Baranowski T, Abdelsamad D, Baranowski J, O'Connor TM, Thompson D, Barnett A, Cerin E, Chen TA (March 2012). "Impact of an active video game on healthy children's physical activity" .
  • Epstein–barr Virus Infection Wikipedia
    Current Topics in Microbiology and Immunology . 390 . pp. 365–85. doi : 10.1007/978-3-319-22822-8_15 . ... PMID 12750978 . ^ Deyrup, Andrea T; Lee, Victor K; Hill, Charles E; Cheuk, Wah; Toh, Han Chong; Kesavan, Sittampalam; Chan, Errol Wei?? ... External links [ edit ] Classification D ICD - 9-CM : 075 OMIM : 226990 MeSH : D020031 v t e Infectious diseases – viral systemic diseases Oncovirus DNA virus HBV Hepatocellular carcinoma HPV Cervical cancer Anal cancer Penile cancer Vulvar cancer Vaginal cancer Oropharyngeal cancer KSHV Kaposi's sarcoma EBV Nasopharyngeal carcinoma Burkitt's lymphoma Hodgkin lymphoma Follicular dendritic cell sarcoma Extranodal NK/T-cell lymphoma, nasal type MCPyV Merkel-cell carcinoma RNA virus HCV Hepatocellular carcinoma Splenic marginal zone lymphoma HTLV-I Adult T-cell leukemia/lymphoma Immune disorders HIV AIDS Central nervous system Encephalitis / meningitis DNA virus Human polyomavirus 2 Progressive multifocal leukoencephalopathy RNA virus MeV Subacute sclerosing panencephalitis LCV Lymphocytic choriomeningitis Arbovirus encephalitis Orthomyxoviridae (probable) Encephalitis lethargica RV Rabies Chandipura vesiculovirus Herpesviral meningitis Ramsay Hunt syndrome type 2 Myelitis Poliovirus Poliomyelitis Post-polio syndrome HTLV-I Tropical spastic paraparesis Eye Cytomegalovirus Cytomegalovirus retinitis HSV Herpes of the eye Cardiovascular CBV Pericarditis Myocarditis Respiratory system / acute viral nasopharyngitis / viral pneumonia DNA virus Epstein–Barr virus EBV infection / Infectious mononucleosis Cytomegalovirus RNA virus IV : Human coronavirus 229E / NL63 / HKU1 / OC43 Common cold MERS coronavirus Middle East respiratory syndrome SARS coronavirus Severe acute respiratory syndrome SARS coronavirus 2 Coronavirus disease 2019 V , Orthomyxoviridae : Influenza virus A / B / C / D Influenza / Avian influenza V, Paramyxoviridae : Human parainfluenza viruses Parainfluenza Human orthopneumovirus hMPV Human digestive system Pharynx / Esophagus MuV Mumps Cytomegalovirus Cytomegalovirus esophagitis Gastroenteritis / diarrhea DNA virus Adenovirus Adenovirus infection RNA virus Rotavirus Norovirus Astrovirus Coronavirus Hepatitis DNA virus HBV ( B ) RNA virus CBV HAV ( A ) HCV ( C ) HDV ( D ) HEV ( E ) HGV ( G ) Pancreatitis CBV Urogenital BK virus MuV Mumps
    IRF8
    • Chronic Active Epstein-Barr Virus Infection GARD
      Chronic active Epstein-Barr virus infection (CAEBV) is a very rare complication of an Epstein Barr virus (EBV) infection. Symptoms of CAEBV may include fever, swollen lymph nodes, and an enlarged liver and/or spleen. More serious complications may include anemia, nerve damage, liver failure, and/or interstitial pneumonia. Symptoms may be constant or come and go, and tend to get worse over time. CAEBV occurs when the virus remains ‘active’ and the symptoms of an EBV infection do not go away.
    • Chronic Epstein-Barr Virus Infection Syndrome Orphanet
      Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.
    • Immunodeficiency 32b OMIM
      A number sign (#) is used with this entry because of evidence that immunodeficiency-32B (IMD32B) is caused by homozygous or compound heterozygous mutation in the IRF8 gene (601565) on chromosome 16q24. Immunodeficiency-32A (IMD32A; 614893), an autosomal dominant disorder, is allelic. Description Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). Clinical Features Fleisher et al. (1982) reported a family in which 3 sibs had an immunodeficiency syndrome characterized by susceptibility to Epstein-Barr virus (EBV).
  • Diabetes Mellitus, Insulin-Dependent, 2 OMIM
    The ILPR is located in the proximal promoter of the insulin gene, 365 bp from the transcription start site.
    INS, IGF2, INS-IGF2
  • Large Granular Lymphocytic Leukemia Wikipedia
    Loughran Jr. while working at Fred Hutchinson Cancer Research Center . [23] Specimens from patients with LGLL are banked at the University of Virginia for research purposes, the only bank for such purposes. [24] References [ edit ] ^ a b c d e f Elaine Sarkin Jaffe; Nancy Lee Harris; World Health Organization; International Agency for Research on Cancer; Harald Stein; J.W. ... Acta Clinica Croatica . 57 (2): 362–365. doi : 10.20471/acc.2018.57.02.18 . ... External links [ edit ] Classification D ICD-O : 9831/3 MeSH : D054066 v t e Leukaemias , lymphomas and related disease B cell ( lymphoma , leukemia ) (most CD19 CD20 ) By development/ marker TdT+ ALL ( Precursor B acute lymphoblastic leukemia/lymphoma ) CD5 + naive B cell ( CLL/SLL ) mantle zone ( Mantle cell ) CD22 + Prolymphocytic CD11c+ ( Hairy cell leukemia ) CD79a + germinal center / follicular B cell ( Follicular Burkitt's GCB DLBCL Primary cutaneous follicle center lymphoma ) marginal zone / marginal zone B-cell ( Splenic marginal zone MALT Nodal marginal zone Primary cutaneous marginal zone lymphoma ) RS ( CD15 +, CD30 +) Classic Hodgkin lymphoma ( Nodular sclerosis ) CD20+ ( Nodular lymphocyte predominant Hodgkin lymphoma ) PCDs / PP ( CD38 +/ CD138 +) see immunoproliferative immunoglobulin disorders By infection KSHV ( Primary effusion ) EBV Lymphomatoid granulomatosis Post-transplant lymphoproliferative disorder Classic Hodgkin lymphoma Burkitt's lymphoma HCV Splenic marginal zone lymphoma HIV ( AIDS-related lymphoma ) Helicobacter pylori ( MALT lymphoma ) Cutaneous Diffuse large B-cell lymphoma Intravascular large B-cell lymphoma Primary cutaneous marginal zone lymphoma Primary cutaneous immunocytoma Plasmacytoma Plasmacytosis Primary cutaneous follicle center lymphoma T/NK T cell ( lymphoma , leukemia ) (most CD3 CD4 CD8 ) By development/ marker TdT+ : ALL ( Precursor T acute lymphoblastic leukemia/lymphoma ) prolymphocyte ( Prolymphocytic ) CD30+ ( Anaplastic large-cell lymphoma Lymphomatoid papulosis type A ) Cutaneous MF+variants indolent: Mycosis fungoides Pagetoid reticulosis Granulomatous slack skin aggressive: Sézary disease Adult T-cell leukemia/lymphoma Non-MF CD30 -: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma Pleomorphic T-cell lymphoma Lymphomatoid papulosis type B CD30 +: CD30+ cutaneous T-cell lymphoma Secondary cutaneous CD30+ large-cell lymphoma Lymphomatoid papulosis type A Other peripheral Hepatosplenic Angioimmunoblastic Enteropathy-associated T-cell lymphoma Peripheral T-cell lymphoma not otherwise specified ( Lennert lymphoma ) Subcutaneous T-cell lymphoma By infection HTLV-1 ( Adult T-cell leukemia/lymphoma ) NK cell / (most CD56 ) Aggressive NK-cell leukemia Blastic NK cell lymphoma T or NK EBV ( Extranodal NK-T-cell lymphoma / Angiocentric lymphoma ) Large granular lymphocytic leukemia Lymphoid+ myeloid Acute biphenotypic leukaemia Lymphocytosis Lymphoproliferative disorders ( X-linked lymphoproliferative disease Autoimmune lymphoproliferative syndrome ) Leukemoid reaction Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia Cutaneous lymphoid hyperplasia with bandlike and perivascular patterns with nodular pattern Jessner lymphocytic infiltrate of the skin General Hematological malignancy leukemia Lymphoproliferative disorders Lymphoid leukemias
    STAT3, STAT5B, NCAM1, SOAT1, IL15, STAT1, B3GAT1, TRBV20OR9-2, MS4A1, IL2, VDR, KRT20, TNFAIP3, TRG, TRD, NCR1, KLRK1, CNTN2, PKHD1L1, MICA, CASP8, SBF1, RAB4A, MAP3K5, JAK3, IL15RA, IFNG, HTC2, HRES1, CXCR3, ERBB4, CSF3, CCR5, CD28, KLRC4-KLRK1
    • T-Cell Large Granular Lymphocyte Leukemia Orphanet
      T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
    • T-Cell Large Granular Lymphocyte Leukemia GARD
      T-cell large granular lymphocyte leukemia is a rare cancer of a type of white blood cells called lymphocytes. T-cell large granular lymphocyte leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils ( neutropenia ) in the blood; and an enlarged spleen . About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy , or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
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