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Fetal Distress
Wikipedia
External links [ edit ] Classification D ICD - 10 : O68 ICD - 9-CM : 768.2 - 768.4 MeSH : D005316 DiseasesDB : 4882 v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy CategoryOXT, EPOR, EPO, NDUFAF1, ATP8B1, ABCB4, RPL11, SLC6A9, SON, NDUFAF3, OSTM1, NDUFAF4, ALDH7A1, NDUFB11, FOXRED1, TMEM126B, ALG8, NDUFAF5, NUBPL, NDUFAF2, NDUFA11, TIMMDC1, NDUFV2, NDUFS8, NDUFB9, IL1RN, ND1, ND2, ND3, NDUFA1, NDUFA6, NDUFS6, NDUFB3, NDUFB10, NDUFS1, NDUFS2, NDUFS3, NDUFV1, NDUFS4, NDUFS7, PTPRC, KCNQ1, IL6, HSD11B2
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Myokymia
Wikipedia
In contrast, facial myokymia is a fine rippling of muscles on one side of the face and may reflect an underlying tumor in the brainstem (typically a brainstem glioma ), loss of myelin in the brainstem (associated with multiple sclerosis ) or in the recovery stage of Miller-fisher syndrome a variant of Guillain–Barré syndrome , an inflammatory polyneuropathy that may affect the facial nerve . [ citation needed ] Myokymia in otherwise unrelated body parts may occur in neuromyotonia . ... Retrieved 2010-10-22 . ^ Facta 2001 , part 4, page 113, finnish External links [ edit ] Classification D ICD - 10 : G51.4 MeSH : D020385 DiseasesDB : 31530 External resources eMedicine : neuro/235 v t e Symptoms and signs relating to movement and gait Gait Gait abnormality CNS Scissor gait Cerebellar ataxia Festinating gait Marche à petit pas Propulsive gait Stomping gait Spastic gait Magnetic gait Truncal ataxia Muscular Myopathic gait Trendelenburg gait Pigeon gait Steppage gait Antalgic gait Coordination Ataxia Cerebellar ataxia Dysmetria Dysdiadochokinesia Pronator drift Dyssynergia Sensory ataxia Asterixis Abnormal movement Athetosis Tremor Fasciculation Fibrillation Posturing Abnormal posturing Opisthotonus Spasm Trismus Cramp Tetany Myokymia Joint locking Paralysis Flaccid paralysis Spastic paraplegia Spastic diplegia Spastic paraplegia Syndromes Monoplegia Diplegia / Paraplegia Hemiplegia Triplegia Tetraplegia / Quadruplegia General causes Upper motor neuron lesion Lower motor neuron lesion Weakness Hemiparesis Other Rachitic rosary Hyperreflexia Clasp-knife response
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Lupus
Wikipedia
People with SLE may have an association with antiphospholipid antibody syndrome [23] (a thrombotic disorder), wherein autoantibodies to phospholipids are present in their serum. ... Neuropsychiatric Further information: Neuropsychiatric systemic lupus erythematosus Neuropsychiatric syndromes can result when SLE affects the central or peripheral nervous system . ... The most common diseases are dry eye syndrome and secondary Sjögren's syndrome , but episcleritis , scleritis , retinopathy (more often affecting both eyes than one), ischemic optic neuropathy , retinal detachment , and secondary angle-closure glaucoma may occur. ... Depending on the dosage, people who require steroids may develop Cushing's syndrome , symptoms of which may include obesity , puffy round face, diabetes mellitus , increased appetite, difficulty sleeping and osteoporosis . ... Occupational exposure to silica , pesticides , and mercury can also worsen the disease. [62] Kidney transplantation Kidney transplants are the treatment of choice for end-stage kidney disease , which is one of the complications of lupus nephritis , but the recurrence of the full disease is common in up to 30% of people. [94] Antiphospholipid syndrome Approximately 20% of people with SLE have clinically significant levels of antiphospholipid antibodies, which are associated with antiphospholipid syndrome . [95] Antiphospholipid syndrome is also related to the onset of neural lupus symptoms in the brain.DNASE1, FCGR2B, PTPN22, PDCD1, TREX1, IFIH1, TNIP1, IL10, HLA-DRB1, BANK1, ETS1, IRF5, ITGAM, BLK, STAT4, C4A, CTLA4, TNFAIP3, CR2, C1QA, PXK, JAZF1, RASGRP1, TNFSF4, C4B, PRDM1, DEF6, HLA-DQA1, SPP1, FCGR2A, IRAK1, MECP2, UBE2L3, PHRF1, DNASE1L3, C2, SLC15A4, UHRF1BP1, CLEC16A, C1R, RASGRP3, KIAA0319L, FAS, C1S, IL21, CFB, TLR5, FCGR3B, IL4, CAT, CRP, PRL, IL6, ATG5, IKZF1, NCF1, CLU, CD226, IL12B, IL21R, IRAK4, IKZF3, DNASE2, CSK, C1QB, LYN, PTGS2, SIGLEC6, TCF7, P2RY12, ANXA3, RO60, PCNX3, SH2B3, SYNGR1, TLR7, CD40LG, TERT, TNFRSF13B, CYBB, PTPRC, JAK1, SNRPD1, CDKN1A, TIMD4, JUNB, PPARG, LBR, GADD45A, BECN1, TRAF3IP2, RUBCN, ATG7, MAN2A1, INPP5D, RC3H1, PLD4, EP300, LTA, MIR196A2, POLB, IL2RA, CD40, RXRA, HLA-A, IRF7, MTA2, TYK2, CD247, FASLG, C3, RASSF5, IL23R, NCF2, HLA-B, ITGAX, BACH2, CD80, WDFY4, ELF1, TMEM39A, PRKCD, SYT1, GTF2IRD1, MSH5, MICB, ARID5B, LBH, TNXB, TNPO3, HLA-DMB, IL19, LRRK2, HLA-DQB2, JAK2, CXorf21, APOM, SKIV2L, CYP21A2, ITPR3, GLT1D1, AFF1, SERPING1, XKR6, TNFSF15, GRB2, PRRC2A, ENG, PTPN11, NFKBIL1, NMNAT2, NOTCH4, PNP, DRAM1, MPIG6B, DAG1, SMG7, MFHAS1, SLC5A11, HLA-DRA, HLA-DQA2, ERBB2, SMAD3, PEPD, BTNL2, LRRC18, COG6, ATXN2, CASP10, IL12RB2, ATG16L1, HCP5, GALC, FAM98B, MIF, LPP, HLA-DPB1, FCRL3, TNFRSF13C, GABBR1, HIP1, MBL2, MGAT5, LINC01845, GPR19, C1QTNF6, TPI1P2, AHNAK2, FAM86B3P, GPR35, LEP, LURAP1L, NR3C1, GEM, HLA-G, LCP1, IL1B, IFNA1, MUCL3, IFNA13, IFNG, PPP1R18, PSORS1C1, IL1A, IL1RN, HLA-DQB1, IL2, ITGAL, CXCL8, ISG20, IL17A, IL18, CXCL10, IFN1@, IRF8, SCAMP5, KIR3DL1, LAMC2, HLA-DRB9, ZFP90, HLA-L, HMGB1, SPPL3, RTKN2, ARMC3, PUSL1, RBM45, SAMD9L, SPRED2, ICA1, ICAM3, KIT, MMP9, PRKG1, ANKRD44, ANKRD30A, H2BC15, CDR3, KMT2D, NIN, NELFE, IGF2-AS, GPANK1, BAG6, ST8SIA4, EVI5, ZSCAN26, ZNF76, TIMMDC1, TLR8, TAOK3, DDX41, IL23A, VEGFA, VDR, CDHR5, TLR9, TPP2, TNFRSF1B, TNF, TLR4, KRT20, AHI1, FOXP3, MBL3P, IL22, CEPT1, TRIM31, ATXN2L, BTG3, EHMT2, CTRC, IKZF2, MASP2, TNFSF13B, TSBP1, ANP32B, KDM4B, FNBP1, HCG9, DDO, ADGRL2, ANKS1A, CRB1, KALRN, SKAP2, STK19, IL18RAP, CCDC113, ADAM15, TNFSF13, ZNRD1, BARX2, TGFB1, TRBV20OR9-2, TCP11, RNF39, ZSCAN31, SMYD3, ILRUN, PAPOLG, PLD2, PLCL1, PLAT, ABHD8, CENPU, ANKRD55, PBX2, SCUBE1, SLC44A4, ERAP2, VWA7, LY6G6C, NOTCH2, NOS3, OR5V1, OR12D3, FAM167A-AS1, ATRIP, MIEN1, PGBD1, NKD1, AP5B1, CARD9, MTOR, TCF19, CARMIL1, SUOX, STAT3, STAT1, SSB, TRIM21, SRI, SPINK1, NAT2, NADSYN1, SMPD1, SLC12A1, RNPC3, CCL2, MAPK1, ATXN1, RPS20, CAMK1D, ZMIZ1, RNF5, PRR12, RAD51B, RAB4A, PVT1, PRSS1, TRAPPC11, GPSM3, FUT2, BTN2A1, MS4A1, INS-IGF2, ARHGAP4, MIR155, IFNG-AS1, CD70, ALB, DGKQ, DARS1, ACE, HCG18, SFTA2, FCGR3A, ESR1, CD19, DECR1, CDKN1B, LINC01250, MUC21, HCG17, IL12A-AS1, SCARB1, LINC00993, TSBP1-AS1, F3, APOH, TRIM26BP, LINC00243, CD28, IRF1-AS1, LINC01185, C1orf141, OR14J1, MIR146A, EPHB2, ATP6V1G2, STX17-AS1, MSH5-SAPCD1, EHMT2-AS1, CREM, LINC01088, MIR210HG, ACR, MIR21, SBK1, ZKSCAN4, ADCY7, LYST, HNRNPA1P1, RNU4-36P, CFTR, LINC01511, DNMT1, ABCF1, AP4B1-AS1, WAKMAR2, CALR, BTK, CR1, BCL2, CSNK2B, C8A, CREBL2, KLK3, CD44, F5, CCL5, PON1, ABCB1, CXCL13, GSTT1, CD27, SLAMF1, IL9, CAMK4, DNMT3A, IFNB1, CXCR5, CD22, TP53BP1, BCR, HPGDS, CD14, FLI1, ITGB2, HLA-C, EZH2, FAM167A, CD38, SH2B2, SERPINE1, F2, MTHFR, IL37, CFH, CD274, ICAM1, ICOS, AQP4, PTPA, CXCL12, SH2D1A, CD69, MAVS, MPO, LSM2, APOL1, CXCR4, CXCR3, SOAT1, KIR3DL2, HRES1, AIM2, NLRP3, TPMT, MFGE8, TRAF1, TLR3, TLR2, TAP2, P2RX7, HSPA4, ADIPOQ, GSTM1, VCAM1, PRKCB, TP53, GRIN2A, FCN2, IGHG3, HT, SNCA, TPO, TNFRSF1A, SNRNP70, CCR5, AGT, NFKB1, CD24, KIR2DS1, PPP2CA, IFI44L, CD244, TNFRSF17, MIR125A, REN, WG, HAVCR1, MBD2, MEFV, HSPA1A, APOE, MYDGF, HSP90AA1, SLAMF6, ANXA1, SOCS1, IFI16, PADI4, TBX21, LY9, PTX3, IFNL1, IL33, CYP2D6, PECAM1, PSMA5, CD46, OCA2, RPL17, JUN, LY6E, CD86, IL17F, SRSF1, FLII, CYP2B6, CYP1A1, S100B, CCR7, MBP, H4C15, ENAH, CSF2, SOD1, SELE, H4-16, TAP1, CD72, HAVCR2, PIK3CD, CST3, RFX1, SELL, LCN2, IGAN1, TG, LGALS3, IRF1, ARHGEF5, MICA, GPI, AHR, B2M, HDAC6, TAM, H4C9, FCGR1A, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, SIRT1, H4C2, H4C5, H4C13, H4C14, MAP4K3, GTF2I, GZMB, AP5Z1, SPATA2, HSPA1B, ANXA6, FCGR2C, RPL17-C18orf32, TIMELESS, LILRB1, IL15, ADA, FOS, IL16, BDNF, XRCC1, GATA3, TNFRSF4, ACTB, PCNA, HDAC9, AMH, MIR326, H3P28, UBASH3B, LOC102724971, ARMH1, MNAT1, LOC102723407, HLA-DMA, EBNA1BP2, SAMHD1, TNFRSF11B, ARHGEF2, S100A9, PBX1, IL27, ISG15, FOXO1, GSTP1, ADAR, NOD2, RABEPK, LANCL1, GAS5, AKT1, GAS6, GRN, MBD4, PSMD7, SERPINA1, PLG, PIK3CG, KLRK1, PIK3CB, PIK3CA, SLAMF7, NLRP1, CBLIF, ATN1, CIITA, KLRC4-KLRK1, SDC1, IFIT1, MIR150, TP63, CD180, ZAP70, IFNAR1, IL12A, SYK, IFNAR2, SELP, LGALS9, SIGLEC1, RPSA, IL10RA, KIR2DS2, VWF, CASP8, EGR2, C1QC, MDM2, CAMP, MIR142, TNFRSF6B, IRF3, TREM1, IL17D, PARP1, HSP90B1, SEMA3A, GORASP1, STAT5A, PRF1, ROBO3, SERPINB2, PSIP1, STAT5B, GDE1, RUNX1, LILRA3, CASP1, TRAF6, UBASH3A, TGFB3, WNK1, PSS, CCR6, GGCT, CASP3, C4B_2, TNFRSF8, UPK3B, CDR1, TNFSF10, DDX58, AICDA, IL18R1, IGHV3-52, CDK5R1, PELI1, PDLIM7, APCS, S100A8, CCL3L1, MTMR3, SOCS3, APOA1, TPI1, CD48, RELA, REL, F11R, CDKN2A, SNRPA, EBI3, BCHE, SERPINB3, SLC22A4, SLC6A2, TNFSF12, SIGIRR, HNRNPDL, HAMP, TNFSF11, PLAAT4, OASL, COX8A, CXCL16, KLRC1, CFHR5, HLA-DRB5, EMB, IFNA2, HLA-DOA, SLCO6A1, GCK, FOSB, KIR2DL5B, MX1, HIF1A, LAIR1, DNMT3B, KLRC2, HGF, MIR34A, NFKBIA, STING1, IL6R, IFNA17, IFNGR1, MAP1LC3B, IL4R, ITPA, ARID3A, IFI6, XRCC6, MRC1, CLEC4C, JUND, IFIT3, ELOF1, CTNNB1, EPHB1, HNRNPC, CGAS, PDCD1LG2, EFNA2, HP, CYP21A1P, IL13, LGALS3BP, ELK3, FCER1G, LGALS1, LEPR, EGFR, CREB1, OAZ1, CSF1, EGR3, BTLA, GCHFR, CDCA5, ESR2, GSTK1, LDLR, IFNL3, HSPA2, RMDN3, CD1D, ZPBP2, ERN1, KLRD1, IER3, KRAS, LBX1-AS1, BIN1, SMUG1, STAT2, ROCK2, SHOC2, IFNK, CFHR1, MIR31, ATF7IP, NR1I3, H1-0, SYBU, MIR17HG, ABCD1, GIMAP5, ERVK-20, SLC6A4, CD84, SLC11A1, SLC19A1, BMS1, FBXW7, RMDN2, RMDN1, CHAF1B, IKBKE, NR1I2, SNRPB, SNRPC, SEC14L2, LAG3, SOD2, CD4, SP1, SPG7, CCR2, KIR2DL2, CASR, SLEB4, E2F1, TRAF2, MIR22, TRPC6, TRPM2, TSPO, PWAR1, MIR483, EIF4E, XPR1, HRAS, MANF, AIRE, IL34, IL7R, ELANE, MIR126, EDN1, SGSM3, KLF13, MIR200A, CXCR2, VIP, VPREB1, IL10RB, MIR20A, WIPF1, TNFRSF9, XRCC3, HMOX1, HLA-DRB4, MIR223, C5, HLA-DRB3, NEAT1, ADAM17, SS18L1, MIR29B2, CRBN, ZEB1, KIR2DL3, CAST, CNOT8, NR1H4, KIR2DL1, TGFB2, KDR, CD163, LAP, THBS1, CALM3, TIMP1, MIR29B1, EIF4EBP1, CALM2, CALM1, F2RL1, F2R, CYCS, BCL6, ITGB1, TSC22D3, IL32, LGALS8, MIR19B1, TNFSF12-TNFSF13, IL20, NFATC2, ARR3, ADAM10, PRKAR1A, PLA2R1, PRKCA, CECR, CEBPB, CNOT7, IFNGR2, CD52, NCAM1, SLC39A8, VSIR, EIF2AK2, SEMA7A, ERVK-6, GABPA, IFI44, MYD88, DKK1, MASP1, MTR, LPA, SRCIN1, MIR148A, LOC107987479, NR0B2, PTEN, NFE2L2, PPARD, TNFRSF25, IL24, TNFSF9, CREBBP, DEFA1A3, PF4, PGF, AR, IFI27, FN1, SLC52A2, ACACA, ENO1, ERVW-1, NOTCH1, NOS2, CFHR3, PLA2G1B, NM, CCR4, CCR1, NHS, CLTA, IL25, CXADRP1, HSP90AB1, NGF, TNFRSF14, PON3, ACP5, POU4F1, MIR663A, TRIM38, LILRB4, RPS19, TRAP1, MAP4K1, SLC12A9, ABCA1, MDGA2, HTR1A, ICOSLG, CD276, PRRT2, S100A10, RIPK1, S100A12, CORO1A, CXCL9, CHAF1A, CD33, CYP2C19, CCL3, P2RY2, CYP2E1, P2RY1, MDK, RETN, VGLL3, DBA2, CYP3A5, CX3CL1, TIRAP, MIR181A2, G3BP1, MMP2, NT5C1A, IFNLR1, MERTK, PTPN2, PTPN6, ADM, RIPK3, ZNF423, CD74, MT1G, AGER, POTEF, KDM6B, LILRB2, RAG2, ATG16L2, SLEH1, TBC1D9, IGF1, MIR302D, MPL, MIR15B, RFC1, HFM1, CXADR, KIR2DL5A, RNASE2, TRIM13, ENTPD1, AGTR1, GNAO1, EPO, CENPV, PYCARD, IGHV3OR16-7, IGHV4-34, SETD2, TIGIT, LAMTOR2, IGHV3-69-1, MIR145, CCDC22, PRSS55, IGHV3-7, DLL1, IGKV3-20, TRIM39-RPP21, ULBP2, CABIN1, RBMX, FCRL6, LINC01193, LOC110806262, IL31, ATF6, H3P44, P2RX2, IRGM, AGBL3, PCSK9, TSPAN33, CIC, SUMO4, MPRIP, PHLDB1, NBEAL2, H3C15, MALAT1, LINC02605, PUF60, LCE3B, FSTL1, USP17L2, TREX2, ENHO, POLG2, PADI2, PTGDR2, H3P47, TICAM2, LCE3C, H3P23, PDAP1, TUSC2, SYNPO, H3P8, PERCC1, CCL4L1, TMED10P1, RNF19A, CNTNAP2, POLDIP2, THRIL, ARL5A, PHGDH, ERAL1, EHF, FGF22, LAT, DKK3, IL17B, PDCD4, CNTN6, ADAMDEC1, SGMS1, SLEN3, PRDX5, COTL1, SPDEF, TREML4, KCNH4, USP17L9P, APOA1-AS, BRD4, SEC61G, RSPO1, KLK9, MTREX, MLKL, ZSCAN1, LAMA1, LOC102723971, MILR1, FLRT2, CRYGEP, RIPK4, TBK1, CTHRC1, SCYL1, KIDINS220, CREB3L1, SIGLEC12, USP17L26, PDP2, MRTFA, NBDY, BAGE3, TUBA1C, TRIM63, SPZ1, USP17L25, USP17L24, IL1F10, DEFA1B, NLRC4, HIVEP3, RFH1, ABHD6, RNF185, SLC7A9, SPHK2, SIRPG, CHST12, NLRP2, WDR11, RNF114, EIF2AK4, ALG1, CCL28, BDH2, DNER, USP17L28, BMS1P20, DUSP22, USP17L27, ACKR3, ORMDL3, SLURP1, MUC16, HRH4, MIR654, RPAIN, ZNF419, COL18A1, RNF128, MUL1, TNFAIP8L2, DHX40, VTCN1, UCA1, POU5F1P4, MT1IP, AHNAK, FBXO31, CAMKMT, SLED1, SCD5, NAA25, TSGA10, ZC3H12A, POU5F1P3, RSPH6A, MIR499A, MIR448, CLEC7A, ANO3, MIR633, SH3BGRL3, MIR629, MIR621, DOCK8, ARHGEF28, HNP1, EBF2, MIR525, MIR551B, SLEB3, SNORA12, MIR451A, H3C13, UNC93B1, VKORC1, MIR410, IMPACT, IL22RA2, HILPDA, LARP6, PLB1, MZB1, NT5C3A, C1RL, LINC00513, CASP12, TNFRSF12A, WNT16, NCKIPSD, LINC01672, TMC8, IGLL5, RTRAF, SF3B6, ACSL5, MIR203A, ZNF688, MIR3148, LRP1B, MIR198, EGFL7, MIR196A1, CBLL2, SLEN2, SLEN1, DUOX2, MIR152, MIR5003, MIR5100, ERVW-4, ASAP1, MIR17, MIR183, CLEC4A, IBD5, EXOSC3, ERVK-15, TMED7, GAL, P2RX5-TAX1BP3, ZSWIM2, GPR84, MIR3074, DUOX1, MIR34B, MIR939, MIR873, TRIM68, RBM23, HOTAIR, MTPAP, SIGLEC14, ARL8B, RAVER2, SLC52A1, MIR34C, MIR93, USP17L30, USP17L29, NUDT15, MIR98, DDX19A, LRG1, C20orf181, EARS2, MIR210, TERF2IP, MIR221, OR2AG1, MIR224, NEK7, TMED7-TICAM2, MIR1279, MIR23B, MIR27A, DDIT4, MIR30A, XAF1, DOCK11, H3C9P, DEFB4B, KCNH8, DUSP23, TTC34, H3C14, NAT1, SPI1, RPP14, IGKV@, AGFG1, HPRT1, HNRNPD, HMGN2, HMGN1, HLX, HLA-H, HLA-DPB2, HLA-DPA1, HELLS, HDAC1, HCRT, HCLS1, HCFC1, H2BC5, HES1, HSD11B1, HSPA1L, IFNA5, CCN1, IGFBP3, IGFALS, IGF1R, IGBP1, IFNR, CFI, HSPA5, ICAM4, HSPG2, HSPE1, HSPD1, HSPB2, HSPB1, H2AX, MSH6, GSTM2, FCGRT, FOXO3, FOXJ1, FOXC1, FH, FGF2, FEN1, FCER1A, FLT1, FCAR, FAP, FANCB, PTK2B, ACSL4, F12, FLNB, FLT3, GSN, GCG, GRIN2B, GPX4, GPT, GPER1, GLO1, GFI1, GC, FLT3LG, GBP2, GAPDH, GABRP, FYN, FPR1, FMR1, JCHAIN, IGLV@, F8, IL1R1, MOG, MMP12, MMP11, MMP7, MMP3, MMP1, FOXO4, KMT2A, MFAP1, MEF2D, MEF2A, MCL1, MBNL1, MAGEB2, SMAD7, MPP1, MRE11, ABCC1, MT1L, MTRR, MTNR1A, COX1, ATP6, MT2A, MT1X, MT1M, MSN, MT1JP, MT1H, MT1F, MT1E, MT1B, MT1A, LYZ, LUM, LTK, IRF2, KCNA3, ITGB3, ITGAE, ITGA2, IRF6, IRF4, IRAK2, KIR2DL4, INSRR, IDO1, IL12RB1, IL7, IL5, IL1RAP, KIF5A, KIR2DS3, LMNA, LAIR2, LIG4, LCT, LCP2, LCK, STMN1, LAMC1, AFF3, KIR2DS5, L1CAM, KRT8, KRT1, KNG1, KLRB1, KLK1, F10, EVPL, HNRNPUL1, CETP, KRIT1, CBLB, CBL, RUNX1T1, RUNX2, CASP9, CASP6, CAPG, CALCR, C6, C5AR1, BTF3P11, KLF5, BST2, BSG, CCND3, CCT, CCT6A, CD63, CDKN1C, CDK6, CDH13, CDK1, CDA, CD79B, CD58, CD2, CD36, CD34, CD8B, CD8A, CD5L, CD3E, DST, BMPR2, BID, ADD2, AMPD2, AMELX, ALOX5AP, AHCY, AGTR2, ADRB3, ADARB1, ANXA5, ACTN4, ACP3, ACP1, ACHE, ABL1, ABCA2, ANXA2, APOA4, BGN, ATF3, BGLAP, BCYRN1, BCKDHB, BAX, AXL, ATM, SERPINC1, APOB, ASS1, ARSF, ARSA, ARHGDIB, ABCC6, APRT, CDKN2C, CTSC, ETS2, CGB3, S1PR1, TYMP, EBF1, E2F2, DUT, DUSP4, DTX1, DPP4, DXO, DNTT, DNM1, DMBT1, DLAT, DHFR, DEFB4A, EDNRA, EEF1A2, EFNA5, EMP1, ERV3-1, ERG, ERCC2, EPHX2, EPHX1, EPHA3, MARK2, EIF4EBP2, ELK1, ELF4, ELAVL1, ELAVL2, SERPINB1, EIF4G1, DEFB1, DEFA3, DEFA1, CNR2, CRK, CRH, ATF6B, CP, COMT, COL11A2, CNN3, CRYGD, ABCC2, CMKLR1, CLIC2, CISH, CHRM3, AKR1C4, CRYGC, MAPK14, DHX9, CX3CR1, DDX6, DDT, CYP24A1, CYP19A1, ADAM3A, CYBA, CTSS, CSF3, CTSK, CTSE, CTSB, CTRL, CTBP2, CSF3R, MTX1, GADD45B, MYO9B, SEMA5A, EIF3C, AOC3, HSD17B6, USO1, SCARF1, FCN3, API5, PIK3R3, DHX16, RECK, TAGLN2, PLA2G6, H2BC17, H2BC4, H2BC10, DGAT1, ABCC3, MBTPS1, PROM1, H2BC11, SNURF, EIF2B5, SQSTM1, ASAP2, KAT2B, SOCS2, TNFSF14, HESX1, TNFRSF10B, TNFRSF10C, TNFRSF18, SIGLEC5, RIPK2, H2BC6, H2BC7, H2BC8, UCP2, EZR, VHL, UVRAG, USF1, UMOD, SCGB1A1, UCHL1, VTN, TYRP1, TYROBP, TYR, TYMS, TXNRD1, CRISP2, VIM, XIST, EOMES, USP7, TMEM187, SMC1A, PDHX, AIMP2, LST1, DDX39B, IL1R2, XRCC4, LAPTM5, MZF1, YWHAZ, YWHAB, YY1, XRCC5, HSPB3, PRC1, NBN, SLC7A7, AHSA1, PROCR, RNASEH2A, ZNRD2, NXF1, IRF9, TRIM22, MAEA, STUB1, CDK2AP2, TRIB1, KLRG1, DDX39A, PSME3, CEBPZ, CELF2, DCTN6, B3GNT2, YWHAQ, ADAMTS13, PIM2, LILRA2, LILRA1, SDS, TMED10, SUB1, CCR9, PAPOLA, JTB, MRPS30, C1QL1, CFHR4, CD3EAP, PTPRU, NR1H3, BCL2L11, AIMP1, GRAP2, LONP1, KLF4, CD83, MED14, STK17A, MSC, NCR1, PTTG1, FCMR, DEDD, OSMR, ATG12, P2RX6, NCR2, GSTO1, SCO2, SETD1A, RABGAP1L, DDX46, FCHSD2, ZEB2, RAPGEF5, RASSF2, DCAF1, EIF2AK3, KLK4, IER2, CCL4L2, MACROH2A1, RAB3D, TBPL1, TOP1, ICAM5, TIMP3, THY1, POU5F1, POU4F2, POU2AF1, PON2, PML, PLXNA2, PLSCR1, PLA2G2A, PIN1, PIM1, PIK3C2A, PIGF, SLC25A3, PGM1, PGK1, MED1, PPBP, PPIA, PRLR, PSMB6, PRTN3, PRPS2, PROS1, PRODH, PROC, MAP2K1, PRKAA1, MAPK3, PRKDC, PRKCQ, PRKAR2B, PRKAB1, PRKAA2, PFDN5, PDGFRA, PDE7A, NOS1, OAS1, NUP98, NTRK1, NT5E, NPPA, NPY, NFIL3, OGG1, NF1, NEU1, NEDD9, SEPTIN2, NDUFS4, NCL, OAS2, CLDN11, PDE3B, PAK3, PCSK1, PC, PAX5, PRKN, PAPPA, REG3A, PAH, OXA1L, FURIN, P4HB, P2RX5, P2RX4, P2RX3, P2RX1, PSMB9, PSMD4, PSMD9, SLC2A1, SMN1, SLC22A2, SLC8A1, SLC6A8, SLC4A1, SLC2A4, SLC1A7, SMS, SLC1A5, SKP2, SHBG, SH3BP2, SGK1, SFTPD, SMN2, FSCN1, SET, SUV39H1, THM, THBD, THAS, TGM2, TMBIM6, TAGLN, STAT6, SNRPN, SSRP1, SRP54, SRP19, SPTAN1, SPN, SOS1, SRSF5, SDC2, PSMD12, RAD52, RELB, REG1A, RASGRF1, RASA1, RAG1, RAF1, MOK, RET, NECTIN2, PVR, PTN, PTK2, PTGS1, PTGDS, RENBP, TRIM27, XCL1, SCO1, CCL21, CCL20, CCL19, CCL17, CCL14, CCL4, S100A1, RLN2, RSU1, RPS27A, RPS6, RPLP0, SNORA73A, ABCE1, H3P10
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Parasomnia
Wikipedia
Contents 1 Classification 2 Non-rapid eye movement (NREM)-related parasomnias 2.1 Differential diagnosis for NREM-related parasomnias [2] 2.2 Confusional arousals 2.2.1 Sleep-related abnormal sexual behavior 2.3 Sleepwalking (somnambulism) 2.4 Sleep terrors (night terrors/ pavor nocturnus) 2.5 Sleep-related eating disorder (SRED) 3 Rapid eye movement (REM)-related parasomnias 3.1 REM sleep behavior disorder 3.2 Recurrent isolated sleep paralysis 3.3 Nightmare disorder 3.4 Catathrenia 3.5 Sleep-Related Painful Erections 4 Other parasomnias 4.1 Exploding head syndrome 4.2 Sleep-related hallucinations 4.3 Sleep enuresis 4.4 Parasomnias due to medical disorder 4.5 Parasomnias due to medication or substance 4.6 Parasomnia, unspecific 5 Isolated symptom/normal variant 5.1 Sleep talking (somniloquy) 6 Diagnosis 7 Treatment 8 Prognosis 9 See also 10 References 11 Notes 12 Further reading 13 External links Classification [ edit ] The newest version of the International Classification of Sleep Disorders (ICSD, 3rd. ... Other specific disorders include sleepeating , sleep sex , teeth grinding , rhythmic movement disorder , restless legs syndrome , and somniloquy . Differential diagnosis for NREM-related parasomnias [2] [ edit ] Sleep-disordered breathing REM-related parasomnias Nocturnal seizures Psychogenic dissociative disorders Confusional arousals [ edit ] Main article: Confusional arousals Confusional arousal is a condition when an individual awakens from sleep and remains in a confused state. ... Sleep-Related Painful Erections [ edit ] Painful erections appear only during the sleep. [35] This condition is present during the REM sleep. [35] Sexual activity doesn't produce any pain. [35] There isn't any lesion or physical damage but an hypertonia of the pelvic floor could be one cause. [36] It affects men of all ages but especially from the middle-age. [36] Some pharmacologic treatment as propranolol, clozapine, clonazepam, baclofen and various antidepressants, seems to be effective. [35] Other parasomnias [ edit ] Exploding head syndrome [ edit ] Main article: Exploding head syndrome Sleep-related hallucinations [ edit ] Sleep-related hallucinations are brief episodes of dream-like imagery that can be of any sensory modality, i.e., auditory, visual, or tactile. [2] They are differentiated between hypnagogic hallucination , that occur at sleep onset, and hypnapompic hallucinations , which occur at the transition of sleep to awakening. [2] Although normal individuals have reported nocturnal hallucinations, they are more frequent in comorbidity with other sleep disorders, e.g. narcolepsy. [1] [2] [37] Sleep enuresis [ edit ] Main article: Nocturnal enuresis Parasomnias due to medical disorder [ edit ] Parasomnias due to medication or substance [ edit ] Parasomnia, unspecific [ edit ] Sleep drunkenness, also known as confusional arousal, is the feeling of confusion or sudden action upon waking up from deep sleep. ... Reardon, John P; Peshek, Andrew; Allison, Kelly C (2005). "Night Eating Syndrome". CNS Drugs . 19 (12): 997–1008. doi : 10.2165/00023210-200519120-00003 . ... External links [ edit ] Classification D ICD - 10 : F51.3 - F51.4 ICD - 10-CM : G47.5 ICD - 9-CM : 307.47 , 327.4 , 780.59 MeSH : D020447 External resources eMedicine : med/3131 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 v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring
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Bell's Palsy
Wikipedia
Specialty Neurology , ENT , oral and maxillofacial surgery Symptoms Inability to move the facial muscles on one side, change in taste , pain around the ear [1] Usual onset Over 48 hours [1] Duration < 6 months [1] Causes Unknown [1] Risk factors Diabetes , recent upper respiratory tract infection [1] Diagnostic method Based on symptoms [1] Differential diagnosis Brain tumor , stroke , Ramsay Hunt syndrome type 2 , Lyme disease [2] Treatment Corticosteroids , eye drops , eyepatch [1] [3] Prognosis Most recover completely [1] Frequency 1–4 per 10,000 per year [2] Bell's palsy is a type of facial paralysis that results in a temporary inability to control the facial muscles on the affected side of the face. [1] Symptoms can vary from mild to severe. [1] They may include muscle twitching, weakness, or total loss of the ability to move one, and in rare cases, both sides of the face. [1] Other symptoms include drooping of the eyelid , a change in taste , and pain around the ear. ... Reactivation of existing herpes zoster infection leading to facial paralysis in a Bell's palsy type pattern is known as Ramsay Hunt syndrome type 2 . Treatment [ edit ] Steroids have been shown to be effective at improving recovery in Bell's palsy while antivirals have not. [9] In those who are unable to close their eyes, eye protective measures are required. [9] Management during pregnancy is similar to management in the non-pregnant. [5] Steroids [ edit ] Corticosteroids such as prednisone improve recovery at 6 months and are thus recommended. [3] Early treatment (within 3 days after the onset) is necessary for benefit [29] with a 14% greater probability of recovery. [30] Antivirals [ edit ] One review found that antivirals (such as aciclovir ) are ineffective in improving recovery from Bell's palsy beyond steroids alone in mild to moderate disease. [31] Another review found a benefit when combined with corticosteroids but stated the evidence was not very good to support this conclusion. [6] In severe disease it is also unclear. ... Around 9% of people have some sort of ongoing problems after Bell's palsy, typically the synkinesis already discussed, or spasm, contracture, tinnitus or hearing loss during facial movement or crocodile-tear syndrome. [44] This is also called gustatolacrimal reflex or Bogorad's syndrome and involves the sufferer shedding tears while eating. ... Retrieved 8 August 2016 . ^ a b c d e f Fuller G, Morgan C (December 2016). "Bell's palsy syndrome: mimics and chameleons". Practical Neurology . 16 (6): 439–44. doi : 10.1136/practneurol-2016-001383 . ... Bell's palsy at Curlie Classification D ICD - 10 : G51.0 ICD - 9-CM : 351.0 MeSH : D020330 DiseasesDB : 1303 External resources MedlinePlus : 000773 eMedicine : emerg/56 neuro/413 ent/719 oph/508 Patient UK : Bell's palsy v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome
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Hernia
Wikipedia
National Library of Medicine. 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 diaphragm and abdominal wall defects, abdominopelvic cavity Thoracic diaphragm Hernia Congenital diaphragmatic hernia Bochdalek hernia Abdominal wall Omphalocele Gastroschisis Prune belly syndrome Authority control GND : 4135237-3 NDL : 00563131
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Chiari Malformation
Wikipedia
Not to be confused with Budd–Chiari syndrome . Chiari malformation Other names Hindbrain herniation A sagittal FLAIR MRI scan, from a patient with an Arnold-Chiari malformation, demonstrating tonsillar herniation of 7 mm. ... When congenital, may be asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Syndrome of occipitoatlantoaxial hypermobility is an acquired Chiari I malformation in patients with hereditary disorders of connective tissue. [33] Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan syndrome are susceptible to instabilities of the craniocervical junction; thus they are at risk for acquiring a Chiari malformation. ... This has sparked controversy, given the proposed mechanism of this syndrome. Experts in neurosurgery disagree if this is truly a separate entity or just a part of the spectrum of Chiari 2 malformations. [39] Syringomyelia associated with Chiari malformation Other conditions sometimes causally associated with Chiari malformation include hydrocephalus, [40] syringomyelia , spinal curvature , tethered spinal cord syndrome , and connective tissue disorders [33] such as Ehlers-Danlos syndrome [41] and Marfan syndrome . ... Holmes [63] – U.S. professional golfer Marissa Irwin [64] – U.S. fashion model with Chiari secondary to Ehlers-Danlos syndrome Bobby Jones [65] – U.S. World Golf Hall of Fame golfer and founder of the Augusta National Golf Club Allysa Seely – U.S. ... Archived from the original on May 28, 2010. ^ "Code 453.0: Budd-Chiari Syndrome" . 2008 ICD-9-CM Diagnosis . Archived from the original on December 5, 2008. ^ "Spontaneous Spinal Cerebrospinal Fluid Leaks: Diagnosis" .ERF, FUZ, FGFR3, SKI, POLR3A, CHD4, SON, CLIP2, ZIC1, HMGA2, BAZ1B, GTF2IRD1, TMEM94, SIK3, SALL1, LEMD3, TBL1XR1, TBL2, SETD2, DACT1, MKS1, RFWD3, FANCI, SC5D, RFC2, PORCN, PTEN, VANGL1, DNMT3A, ELN, FBN1, FGFR1, FGFR2, GNAQ, GTF2I, KMT2C, LIMK1, MECP2, NOTCH2, NOTCH3, PIK3CA, POR, PTCH1, LRP5, UCN2, PPP1R2C, AQP1, UNC50, ZRSR2, LAMC2, CSF2, CREBBP, UTS2B
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Autism Spectrum
Wikipedia
Asperger syndrome is closest to autism in signs and likely causes; [20] unlike autism, people with Asperger syndrome have no significant delay in language development or cognitive development , according to the older DSM-IV criteria. [21] PDD-NOS is diagnosed when the criteria are not met for a more specific disorder. Some sources also include Rett syndrome and childhood disintegrative disorder , which share several signs with autism but may have unrelated causes; other sources differentiate them from ASD, but group all of the above conditions into the pervasive developmental disorders . [20] [22] Autism, Asperger syndrome, and PDD-NOS are sometimes called the autistic disorders instead of ASD, [23] whereas autism itself is often called autistic disorder , childhood autism , or infantile autism . [24] Although the older term pervasive developmental disorder and the newer term autism spectrum disorder largely or entirely overlap, [22] the earlier was intended to describe a specific set of diagnostic labels, whereas the latter refers to a postulated spectrum disorder linking various conditions. [25] ASD is a subset of the broader autism phenotype (BAP), which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact . [24] DSM V (2013) [ edit ] A revision to autism spectrum disorder (ASD) was presented in the Diagnostic and Statistical Manual of Mental Disorders version 5 ( DSM-5 ), released in May 2013. [26] The new diagnosis encompasses previous diagnoses of autistic disorder, Asperger syndrome , childhood disintegrative disorder, and PDD-NOS . ... These include a range of gestures and behaviors as defined in the Diagnostic and Statistic Manual for Mental Disorders. [34] Asperger syndrome was distinguished from autism in the DSM-IV by the lack of delay or deviance in early language development. [35] Additionally, individuals diagnosed with Asperger syndrome did not have significant cognitive delays. [36] PDD-NOS was considered "subthreshold autism" and "atypical autism" because it was often characterized by milder symptoms of autism or symptoms in only one domain (such as social difficulties). [37] The DSM-5 eliminated four separate diagnoses—Asperger syndrome; pervasive developmental disorder, not otherwise specified (PDD-NOS); childhood disintegrative disorder; and autistic disorder—and combined them under the diagnosis of autism spectrum disorder. [30] Developmental course [ edit ] Most parents report that the onset of autism symptoms occur within the first year of life. [38] [39] There are two possible developmental courses of autism spectrum disorder. ... Some ASD is associated with clearly genetic conditions, like fragile X syndrome ; however only around 2% of people with ASD have fragile X. [29] Current research suggests that genes that increase susceptibility to ASD are ones that control protein synthesis in neuronal cells in response to cell needs, activity and adhesion of neuronal cells, synapse formation and remodeling, and excitatory to inhibitory neurotransmitter balance. ... Recent estimates suggest that 40–69% of individuals with ASD have some degree of an intellectual disability , [44] more likely to be severe for females. A number of genetic syndromes causing intellectual disability may also be comorbid with ASD, including fragile X , Down , Prader-Willi , Angelman , Williams syndrome [109] and SYNGAP1-related intellectual disability . [ medical citation needed ] [110] [111] Learning disabilities are also highly comorbid in individuals with an ASD.CHD8, NRXN2, CNTNAP2, SHANK3, NLGN3, NRXN1, EN2, DLG4, GABRB3, SCN1A, MEF2C, NLGN4X, BDNF, AVPR1A, PTCHD1, SHANK2, PTEN, OXTR, RELN, TSC2, GRIN2B, FOXP1, ITGB3, IL1RAPL1, DPP6, DPYD, RAI1, ANKRD11, CHD2, NRXN3, TRIP12, CEP41, JARID2, RYR2, GPR50, MTNR1A, SLC1A1, TSHZ3, CDH10, RARB, DIPK2A, DLX1, DIPK2B, SIN3A, DNMT3A, DIP2A, PAH, PCDH9, MTNR1B, HFE, FEV, GTF2I, USH2A, GLRA2, DPP10, UPP2, TET1, LRRN3, CIRBP, SNTG2, NSUN2, DHCR24, GABRQ, CIC, DIO2, LAMC3, SLC6A4, SLC16A2, SOX9, TBL1X, NEMF, GABRA5, MYT1L, DIO3, EPHX2, SFSWAP, HEY1, DNMT3B, MET, NTSR1, FMR1, SOX5, ROGDI, UNC80, LRRTM3, CTTNBP2, IQGAP3, MIR486-1, TET3, CA2, DDHD1, TBR1, CADPS2, TSC1, EIF4E, SYN1, NBEA, OPRM1, MAPK1, SLC9A9, TBX1, CTNNB1, NRP2, SYN2, JAKMIP1, ARID1B, NRCAM, SLC7A5, BRINP1, CAMK2A, ARHGEF10, ITPR3, ARHGAP32, DLGAP4, PAK2, CREBBP, EXT1, GRIN1, VRK3, CHRNB2, TAFA3, WDFY3, LRFN2, SYN3, GSTM5, PREX1, EIF4EBP2, BCKDK, POGZ, DEAF1, EHMT1, HEPACAM, PPP2R5D, IL17A, SCN2A, MTOR, IL6, CADPS, SLC2A1, IL1B, RNF135, RSS, SMS, SLC6A3, ARSD, IL10, SBF1, AVP, IQSEC2, MTHFR, UBE4A, CD38, MECP2, GRM5, PHB, UBE3A, MAP2K1, SHANK1, RBFOX1, NF1, ACTB, TOP2B, TNF, ADNP, CYFIP1, ASMT, NUFIP2, HTR2A, MAOA, IL4, VDR, MBD5, CNTN4, CHAT, IL18, TPH2, CXCL8, FOXP2, KIRREL3, EBPL, SLC25A12, DRD3, PVALB, FOXC1, PITX2, PIK3CA, ELK3, PSD, IL1A, COMT, CADM1, TGFB1, PIK3CG, DYRK1A, CACNA1C, CACNA1D, TBL1XR1, PRKN, HTC2, PIK3CD, PIK3CB, CARS1, GRM7, NLGN1, CASK, SEMA5A, NRG1, HOXA1, GRIN2A, IFNG, SYNGAP1, ELAVL2, PRL, CHRNA7, CHD7, PAX6, CYP1B1, CYP2D6, CNTN5, CYP11B2, GREM1, AKT1, PTGS2, SLC12A5, DRD2, DRD4, CRP, ESCO2, CHRNA4, CAPS2, ESR2, PHB2, GPHN, SIL1, CCL2, AFF2, CLOCK, HLA-DRB1, ERICD, PAFAH1B1, NGF, OXT, IGF1, TCF4, MAOB, GSTK1, KCNJ10, HP, S100B, CDKL5, SNAP25, SLC12A2, IL5, HGF, APBA2, ZNF804A, CPB2, ESR1, GLO1, GFAP, CS, SETD5, AUTS2, TIMELESS, CC2D1A, SYNM, MAGEL2, GAD1, SLCO6A1, AR, WWOX, CNTN6, FOLR1, SETD2, IMMP2L, TRIM32, CDX2, DNMT1, GRIA2, GRIK2, BCL2, ANK3, EGF, PCDH19, ST8SIA2, GSTP1, CDH13, ARHGEF9, PCDH10, CHD5, RAC1, PPARG, ELMOD3, HAVCR1, NCS1, ATP13A4, PON1, CMIP, PPARA, PEX7, POMC, MRTFB, LOC110806262, NCAM1, NLGN2, MIB1, NR4A2, PTLS, CLEC7A, MIR34A, FOXP3, NBEAL1, MIR137, CHDH, MUL1, MIR132, MCPH1, PHF21A, NEXMIF, ABCA13, ASTN2, TAC1, SMARCA2, SMARCA4, CACNA1H, SOD1, SOD2, CBLL2, LRRC4, IRS2, STX1A, KDM5C, RORA, VPS13B, TCF20, TERT, ARHGEF5, USP7, TLL1, WNT2, WNT1, TPI1, SLC19A1, PRICKLE2, PRICKLE1, DLGAP1, ROS1, RPL10, SH2D6, PHLDA2, ZNF292, SCD, MSN, KDM5B, SCN3A, DCD, DGCR2, PIEZO1, SCN9A, SETD1A, SEMA3F, NR1D1, OSR1, TAOK2, MACROD2, KMT2C, AANAT, CAT, GRP, DPYSL3, MBNL1, CAPRIN1, FGA, DPP4, DMD, LRP1, CRH, ACAN, IFNA1, BST1, IFNA13, LEP, IGF2, BMP4, MIF, ALDH1A3, GRM1, OPN1SW, IL2, BAG1, IL9, IL13, KIF1A, CUX1, GRIA1, ASNS, GPR37, CYBB, APOE, MEF2A, CYP2E1, MMP9, HMGB1, CDH11, HNRNPU, CDH9, CLN8, COL9A3, HLA-B, CD5L, EPHB2, CDH2, HOXB1, MKI67, HLA-C, CAMK4, CD69, HLA-G, MOCOS, FEZF2, TUG1, CTSC, TESC, FAM120C, RPP25, SENP7, CDH8, ELOVL2, CSF2, VPS18, SEMA6A, NKX2-5, AHI1, FBLIM1, CTNND2, CX3CR1, UGT1A1, GNB1L, ZNF462, RMDN3, CHD4, SBNO1, CYP1A2, ATP10A, PCBP4, ACKR3, ERMN, ARNTL2, CELF4, RETN, DIABLO, CORD1, COMP, CPOX, ASH1L, PAG1, TRERF1, CREB1, COX8A, COL4A1, SLF2, SYBU, CNTF, CHRNA3, ZNF407, POMGNT1, ELMOD1, CHM, CRK, UBA6, TMLHE, TAOK1, MAPK14, LRP2BP, PRKAG2, CYP2C19, DLX6, SATB2, CUX2, DTNA, SYNE1, DRD5, ATP13A2, SIRT1, DRD1, SLC7A8, SLC35A3, TNPO3, MAPK8IP2, SEZ6L, PSD4, TSPAN12, BACE1, IL17RA, PART1, RNF19A, DMXL2, ADGRL3, EDNRA, ERC1, RIMS1, ERBB4, MYO16, EPS8, WDTC1, KIF21B, NCOA6, KDM4C, PEG10, PLCB1, TNRC6B, EPHA5, ENO2, TBC1D9, MARK2, KANK1, EGFR, EEF1A2, DNASE1, DLX5, STX18, RAB11FIP5, NXPH1, ARHGEF3, NTM, DAB1, CYP27A1, ASCC1, KMT5B, RMDN1, AADAT, CYP19A1, PLAC8, CYP11B1, PLA1A, HRH4, PRRX2, SCLY, IL23A, CYP11A1, ARID4B, DNMT3L, DAO, DBI, DECR1, POLDIP2, ZBTB20, NOC2L, IL1RAPL2, SEZ6L2, DLX2, ELP4, DHCR7, LAT, RPS6KA6, SND1, DDT, INTU, IL37, DISC2, DISC1, DDIT3, HPGDS, CD79A, MRC1, ZNF335, KCTD13, DAOA, NEAT1, WDR62, AGRP, MIF-AS1, AFP, ADRB2, TAAR6, ADRA2C, NANOS1, TGM6, ADRA2B, SERINC2, ZNF713, ADRA1A, PTCHD3, EFCAB5, NEGR1, JMJD1C, C4orf3, AHR, APC, GPR155, ANK2, ANGPT1, AMY1C, AMY1B, AMY1A, AMT, DDX53, ARX, HTR3C, ARID2, METTL21C, WDR90, ALDH1A1, PRSS55, AIF1, LINC-PINT, MIR124-1, LIN7B, LINC01672, PTCHD1-AS, NLGN4Y-AS1, IFNG-AS1, OPN1MW3, PANDAR, EMSLR, MIR6126, LOC102723407, LOC102724971, ACTC1, PERCC1, CERNA3, RN7SL263P, MTCO2P12, LOC107987479, ACACA, LINC02605, DEL11P13, MIR1290, ADORA2A, ERVMER34-1, ADCYAP1R1, MIR140, MIR21, ADAM10, MIR34B, MDD1, BDNF-AS, MIR451A, MIR484, ADA, LGALS7B, MIR656, OPN1MW2, ACTN4, HOTAIR, FMR1-AS1, MIR873, RMDN2, COMMD1, IL23R, CALB2, CAD, RBFA, RABEP2, CNTNAP3, NAA15, FUZ, CACNB2, CPEB4, PPP1R2C, CACNA1B, ASXL3, CACNA1A, SLC38A1, PLA2G12A, MAP1LC3B, KATNAL2, ARHGAP24, FBXO31, MSANTD2, CBLN2, CAPG, TFB2M, TOR3A, NSD1, CD40, GALNT17, P2RY12, EYA1, RTN4R, UPF3B, PCDH15, GGCT, MBOAT7, FA2H, SLC52A2, CARS2, CASP7, CASP1, TTC25, KLF16, TSPO, BUB1, RAB39B, CYP2R1, STS, ARSA, CNTNAP5, RBM45, ARNTL, APP, SLC32A1, APOD, RPS10P2, APOC1, APCS, B3GLCT, LRFN5, PWAR1, RBFOX3, GPRASP2, CDCA5, PRRT2, DST, PPP1R1B, BRS3, SLF1, BRCA1, SYVN1, SRRM4, TMEM185A, SPZ1, RERE, BMP1, HAVCR2, SLC7A3, CNTNAP4, UBXN11, ATP2B2, SYTL4, ERCC2, SUPT16H, FAN1, SCT, SAA2, SAFB, ACSM3, SAT1, IL16, IL15, IL7, SCN8A, IL1RN, KCNMA1, CCL7, CCL11, CCL17, SDC4, CXCL12, IL1RAP, SET, IGFBP5, SAA1, INS, SORT1, S100A1, KCNJ2, RANBP1, RANGAP1, JAK2, KDM5A, OPN1LW, REST, RFC1, RHCE, RHD, RIT2, ITPR1, IRS1, IRF1, RPS6, CLIP1, INSR, SHBG, SKIL, SLC1A2, SOAT1, HES1, SOD3, SOX3, ABAT, AGFG1, SPAST, SPINT1, SPN, SRF, SRY, SSTR4, ST14, STAT5A, STAT5B, HRAS, HOXD11, HOXD@, HSPA1A, SNRPN, SLC2A3, SNRNP70, SLC3A2, SLC6A1, SLC6A2, IDS, SLC6A8, ICA1, SLC12A3, HTR7, SLC18A1, HTR2C, HTR1B, HTR1A, SMARCB1, HSPA4, HSPA1B, SNCB, SNCG, RAB2A, PTPRG, TAL1, OGG1, NOS2, NOTCH1, NPY, NPPA, MLF1, NTRK1, NTS, MIP, OPRK1, PTPRA, OTX1, MEFV, P2RX7, MDK, MARK1, PAM, MAPT, PAX3, NOS1, NGFR, NR3C2, NFKB1, MSX1, MSX2, COX2, MOG, MNT, MTRR, MUSK, MYH6, MYH10, MMP3, NCAM2, NDUFS1, NDUFV1, NEO1, MME, NFE2L2, NFIB, LYZ, SERPINA5, PCYT1A, LDHB, LAMB1, PRKCB, L1CAM, MAPK3, MAPK7, KRT7, KNG1, PRLR, PRODH, KLRC2, KIR3DL1, PSEN2, PSMD12, KIR2DS1, PTGS1, KCNQ2, PTPN4, PPL, POU3F2, PDZK1, POR, PER1, SH2D1A, PF4, CFP, ABCB1, LTA, LRP2, LNPEP, LMNA, FADS1, PITX3, PKD2, PLAUR, PLG, SEPTIN5, LIG4, LGALS7, HOXB8, CNTN2, SBNO2, BMS1, IQCB1, DEPDC5, NOS1AP, DOCK4, FOXF1, FOXG1, HDAC4, FKBP5, KIAA0319, OPN1MW, SETDB1, TLK1, NUAK1, ARNT2, FH, ABCB6, DHRS9, OLIG2, FOXE3, NCOR1, FOLR2, FRA7A, SLC16A7, SLC33A1, GATA4, MSC, GAD2, GABRG1, GABRA4, CER1, GABPA, XRCC6, COX5A, FYN, FRAXE, GRAP2, FADS2, AIM2, PTGES, FGFR2, FGF2, RTN3, SUB1, TLK2, RAPGEF4, PTPRT, FABP1, WDR45, FAM107A, MSNP1, KLF12, PARK7, FAAH, XRN2, COBLL1, F2R, FNDC3A, EZH2, TRAPPC8, ARHGEF15, SLC27A4, PPARGC1A, ABCA7, SLC26A1, ATP8A1, BAIAP2, ZBTB18, FAP, ATG7, ARFGEF1, SLU7, PRPF8, AHSA1, LBX1, CXCR6, CD226, FABP7, PTGES3, FABP5, FABP3, PDE10A, LPAR2, AIFM1, TAZ, HAGH, CRISP2, TRH, TRHR, TRIO, TRPC5, TRPC6, TRPM2, UBE2K, TSNAX, CLDN12, H1-4, TWIST1, GZMB, UCP3, UROD, GSTT1, VCP, GSTM1, HLA-A, TPH1, TOP1, TNFRSF1A, NR4A1, HMGN1, HNF1B, TCN2, PRDX2, TERF1, HLA-DPB1, TGFB2, TGM2, THAS, THBS1, THRB, TIMP4, HLA-DPA1, TLR4, TM7SF2, CLDN5, VEGFA, VIP, GSTA1, FOXN1, NR3C1, GRIK4, PLA2G4C, GPR42, STX16, MPDZ, GLUL, NR1I2, ARHGEF7, GEM, CACNA1G, GDNF, HERC2, HERC1, WASF1, GDI1, ARTN, MKNK1, CUL3, GSR, TMEM187, WT1, XPO1, XRCC4, YWHAE, ZIC2, SEMA3B, GSK3B, AIMP2, GRPR, STAM, FOSL1, GAN, GRM8, MIA, NRIP1, DGCR6, GRM2, H3P40
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Spinocerebellar Ataxia Type 3
Gene_reviews
Disabling sleep disturbances [Pedroso et al 2016], including rapid eye movement sleep behavior disorder [Friedman 2002, Friedman et al 2003] and restless legs syndrome [Schöls et al 1998, van Alfen et al 2001, D'Abreu et al 2009, Pedroso et al 2011]. ... Impaired executive and emotional functioning, referred to as cerebellar cognitive affective syndrome [Braga-Neto et al 2012, Roeske et al 2013, Tamura et al 2018], as well as depression [Lo et al 2016], that are unrelated to ataxia severity. ... Based on this phenotypic variability, Portuguese researchers classified SCA3 into several subtypes in addition to ataxia, including a dystonic-rigid syndrome, a parkinsonian syndrome, and a neuronal amyotrophy syndrome with muscle wasting and peripheral neuropathy [Riess et al 2008]. ... Rare intermediate alleles of 45 to about 60 CAG repeats may show variable expressivity; in particular, these rare intermediate alleles can manifest with isolated restless legs syndrome with no other features of disease. ... Cognitive/ Psychiatric Assess for cognitive dysfunction assoc w/cerebellar cognitive affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation).ATXN3, SLC18A2, TH, ATXN2, LY6E, CACNA1A, ATXN1, ATXN7, HTT, BECN1, FXN, APOE, VCP, TP53, DNAJB1, AR, ATN1, NFE2L2, HSPB2, TBP, PNKP, TK2, HSPB3, SNCA, CUL1, TTR, TPO, ATXN8OS, SOD1, SLC6A3, HSPB1, IL1RN, BEAN1, GFAP, CA8, DNAJB1P1, CAST, FUS, GEMIN4, RPPH1, ATG16L2, PLA2G6, ACY3, UBB, TNFRSF13C, HSP90B2P, RMDN2, PDIK1L, ATG12, TNF, ZUP1, FBXO33, TMC3, MIR370, MIR494, PPP1R1B, SNAP29, MSC, UBQLN2, RMDN1, RMDN3, DNMT3L, FLVCR1, FBXW7, BBC3, HSPB8, PLEKHG4, ATXN10, HSPBP1, TARDBP, SYBU, GABARAP, TWNK, CFDP1, TSHZ1, OPTN, PICK1, AICDA, TDO2, SERPINA3, TAF4, DNMT3A, IGFALS, HSP90AA1, HSPA4, HMBS, HCRT, GSTM2, GABPA, ELAVL3, EIF4G2, EFNA3, TOR1A, DMPK, IRF1, CTRL, CST3, CREBBP, CREB1, CDK5, CA11, BAX, AVP, ATM, ARSB, ACP1, IL6, IVL, SPTBN2, PLA2G2A, SOD2, SLC22A2, SLC2A1, SKP1, ASIC1, RORA, RANGAP1, RAB1A, PTPN13, PSMD2, POU2F2, PLA2G1B, KPNA3, PDYN, PAH, NPY, NEFL, ND4, ND1, MSI1, MMP2, FOXO4, KITLG, LAMP2, MIR543
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Obliterative Bronchiolitis
Wikipedia
The disease is often termed bronchiolitis obliterans syndrome (BOS) in the setting of post lung transplantation and hematopoietic stem cell transplant (HSCT). [6] Patients who develop BOS post lung transplant vary in time frame and disease severity. [6] Patients often initially have normal lung function on pulmonary function testing and have normal chest radiographs. [6] As the disease progresses they begin to have symptoms of shortness of breath, cough, and wheezing as their lung function declines. ... (March 2002). "Bronchiolitis obliterans syndrome 2001: an update of the diagnostic criteria" . ... PMID 11897517 . ^ Au BK, Au MA, Chien JW (July 2011). "Bronchiolitis obliterans syndrome epidemiology after allogeneic hematopoietic cell transplantation" . ... PMID 21547332 . ^ Hamada K, Oishi K, Hirano T, Shiinoki T, Shibuya K, Matsunaga K (January 2018). "Swyer-James Syndrome". American Journal of Respiratory and Critical Care Medicine . 197 (1): 130–131. doi : 10.1164/rccm.201708-1691IM . ... (March 2002). "Bronchiolitis obliterans syndrome 2001: an update of the diagnostic criteria" .IFNG, CCL2, IL4, NOS3, CCL5, CCL7, CD86, ACE, CSF2, NSMCE3, EYA1, IL17A, CXCL8, IL10, NOD2, IL6, SIX5, MMP7, TNFRSF8, SIX1, HIF1A, TGFB1, CXCL10, VEGFA, TIMP1, CCR2, CXCR3, BCL6, SFTPD, PRDX2, SELE, CXCL12, TLR4, ROCK2, TNF, CXCR4, LINC01672, SFTPA1, MIR503, PLF, MIR323A, MIR17HG, IL26, CDCA8, ANLN, IL23A, CD274, CABIN1, KLRK1, NUDT6, GOSR2, PIK3CD, SOCS3, RAG1, CXCL9, ABCB1, CHI3L1, EGFR, DSG2, DPP4, DEFB4A, VCAN, CSF1, LTB4R, CD59, PDC, CD40LG, CD28, CAMP, CALB2, C5AR1, BMP7, BMP4, ELANE, ELN, NR3C1, GZMB, SERPINE1, MUC1, MMP9, MMP8, BDNF, MCAM, MBL2, LCN1, KIR2DS5, IL13, IL2, ICAM1, HMGB1, HLA-A, HGF, KLRC4-KLRK1
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Fmr1 Disorders
Gene_reviews
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). ... Clinical Characteristics Clinical Description Males with Fragile X Syndrome (Full-Mutation Alleles) The phenotypic features of males with fragile X syndrome (FXS) vary in relation to puberty [Kidd et al 2014]. ... Some studies have reported elevated rates of hypertension, hypothyroidism, fibromyalgia, migraines, insomnia, sleep apnea, restless leg syndrome, central pain sensitivity syndrome, and autoimmune disorders in individuals with a premutation compared to those without a premutation [Hagerman & Hagerman 2016]. ... Conflicting results regarding AGG interruptions and FXPOI have been published [Allen et al 2018, Lekovich et al 2018]. Nomenclature Fragile X syndrome has also been referred to as FXS, fragile X mental retardation, marker X syndrome, and Martin-Bell syndrome. FMR1 primary ovarian insufficiency has also been referred to as FMR1 -related premature ovarian failure. Prevalence Fragile X syndrome. Prevalence estimates of males with fragile X syndrome (FXS) have been revised downward since the isolation of FMR1 in 1991.
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False Memory
Wikipedia
Specifically, sleep deprivation increased false memories in a misinformation task when participants in a study were sleep deprived during event encoding, but did not have a significant effect when the deprivation occurred after event encoding. [47] False memory syndrome [ edit ] Main article: False memory syndrome False memory syndrome recognizes false memory as a prevalent part of one's life in which it affects the person's mentality and day-to-day life. False memory syndrome differs from false memory in that the syndrome is heavily influential in the orientation of a person's life, while false memory can occur without this significant effect. The syndrome takes effect because the person believes the influential memory to be true. [48] However, its research is controversial and the syndrome is excluded from identification as a mental disorder and, therefore, is also excluded from the Diagnostic and Statistical Manual of Mental Disorders . ... However, the syndrome suggests that false memory can be declared a syndrome when recall of a false or inaccurate memory takes great effect on a person's life. ... "False memory syndrome: A false dichotomy between science and practice".
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Chronic Lyme Disease
Wikipedia
Belief that symptoms are caused by an unproven infection Not to be confused with Neuroborreliosis or Post-treatment Lyme disease syndrome . Chronic Lyme disease Pseudomedical diagnosis Risks Nocebo Treatment risks Dangers of long-term antibiotic therapy Legality Some jurisdictions have legislated to protect doctors offering worthless and potentially dangerous treatments This article is part of a series on Alternative medicine General information Alternative medicine Alternative veterinary medicine Quackery (Health fraud) History of alternative medicine Rise of modern medicine Pseudoscience Antiscience Skepticism Skeptical movement National Center for Complementary and Integrative Health Terminology of alternative medicine Therapeutic nihilism Fringe medicine and science Acupressure Acupuncture Alkaline diet Anthroposophic medicine Apitherapy Applied kinesiology Aromatherapy Auriculotherapy Bates method Black salve Bodywork Bonesetter Bowen technique Breathwork Fake COVID-19 treatments Cancer treatments Charcoal cleanse Chiropractic Chiropractic treatment techniques Vertebral subluxation Christian Science Chromotherapy Colon cleansing Coffee enema Colorpuncture Colloidal silver Craniosacral therapy Crystal healing Cupping therapy Dental amalgam controversy Detoxification Foot detox Ear candling Energy medicine Esoteric energy Therapeutic touch Fabunan Antiviral Injection Facilitated communication Feldenkrais Method Functional medicine Hair analysis Herbal medicine Holistic dentistry Hologram bracelet Homeopathy Bach flower remedies Biological terrain assessment Hypnotherapy Iridology Ionized jewelry Jilly Juice Lightning Process Lymphotherapy Medical intuitive Mesmerism Magnet therapy Manual therapy Megavitamin therapy Mind–body interventions MMS Myofascial release NAET Naturopathy Oil pulling Orgone Orthomolecular medicine Orthopathy Osteomyology Osteopathy Ozone therapy Parapsychology Phrenology Psychic surgery Psychodermatology Radionics Rapid prompting method RBOP Reiki Reflexology Rolfing Scientific racism ThetaHealing Thought Field Therapy Urophagia Vaginal steaming Vision therapy Vitalism Young blood transfusion Zero balancing Conspiracy theories ( list ) Big Pharma conspiracy theory HIV/AIDS denialism OPV AIDS hypothesis Anti-vaccination Vaccines and autism MMR vaccine and autism Water fluoridation controversy GMO conspiracy theories Misinformation related to the COVID-19 pandemic Classifications Alternative medical systems Mind–body intervention Biologically-based therapy Manipulative methods Energy therapy Traditional medicine African Muti Southern Africa Ayurveda Ayurvedic acupressure Dosha Maharishi Vedic Approach to Health Balneotherapy Brazilian Bush medicine Cambodian Chinese Blood stasis Chinese herbology Dit Da Gua sha Gill plate trade Meridian Moxibustion Pressure point Qi San Jiao Tui na Zang-fu Chumash Curandero Faith healing Iranian Jamu Kambo Japanese Korean Mien Shiang Mongolian Prophetic medicine Shamanism Shiatsu Siddha Sri Lankan Thai massage Tibetan Unani Vietnamese Diagnoses Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome v t e Chronic Lyme disease ( CLD ) is the name used by some people with "a broad array of illnesses or symptom complexes for which there is no reproducible or convincing scientific evidence of any relationship to Borrelia burgdorferi infection" to describe their condition and their beliefs about its cause. [1] Both the label and the belief that these people's symptoms are caused by this particular infection are generally rejected by medical professionals, and the promotion of chronic lyme disease is an example of health fraud . [1] [2] Chronic Lyme disease in this context should not be confused with genuine Lyme disease , a known medical disorder caused by infection with Borrelia burgdorferi , or with post-treatment Lyme disease syndrome , a set of lingering symptoms which may persist after successful treatment of infection with Lyme bacteria. ... The symptoms are similar to those of fibromyalgia or chronic fatigue syndrome . [4] [6] Fibromyalgia can be triggered by an infection, and then persist when the infection is completely removed from the body. [6] A few doctors attribute these symptoms to persistent infection with Borrelia , or co-infections with other tick-borne pathogens, such as Ehrlichia and Babesia . [20] [21] [22] Some conclude that the initial infection may cause an autoimmune reaction that continues to cause serious symptoms even after the bacteria have been eliminated by antibiotics. [23] A review looked at several animal studies that found persistence of live but disabled spirochetes following treatment of B. burgdorferi infection with antibiotics. ... Identity [ edit ] Chronic Lyme can generally be explained as a misdiagnosis of fibromyalgia or chronic fatigue syndrome. [4] However, among people who self-identify as having chronic Lyme, the idea of chronic Lyme functions as a type of social identity . ... Science Based Medicine . ^ "Post Lyme Disease Syndrome" . Cdc.gov. February 7, 2013 . Retrieved July 5, 2013 . ^ Cairns V, Godwin J (December 2005). "Post-Lyme borreliosis syndrome: a meta-analysis of reported symptoms".
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Sialadenitis
Wikipedia
Autoimmune [ edit ] Autoimmune sialadenitis (i.e Sjogren’s syndrome ) causes unilateral or bilateral painless swellings unless there is a secondary infection. [4] Infection [ edit ] The most common salivary gland infection is mumps . ... Chronic recurrent sialadenitis [ edit ] The occurrence of chronic recurrent episodes may be due to underlying Sjogren's syndrome or ductal abnormalities. Prodrome of tingling in the gland preceding pain and swelling may be reported in such cases. ... Dry eyes and mouth – dryness affecting the eyes and oral cavity are key symptoms of Sjogren’s syndrome and may be seen in combination with a connective tissue disease such as rheumatoid arthritis, scleroderma, or dermatomyositis . 5. Oral candidiasis – may be present in cases of Sjogren’s syndrome or in associate with a connective tissue disorder. ... Connective tissue disorder or Sjogren’s syndrome – history of Sjogren’s syndrome, or a concomitant connect tissue disorder such as systemic lupus erythematosus, rheumatoid arthritis, or scleroderma. 2.
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Ménière's Disease
Wikipedia
"Intratympanic steroids for Ménière's disease or syndrome". The Cochrane Database of Systematic Reviews (7): CD008514. doi : 10.1002/14651858.CD008514.pub2 . ... "Diuretics for Ménière's disease or syndrome". The Cochrane Database of Systematic Reviews (3): CD003599. doi : 10.1002/14651858.CD003599.pub2 . ... "Betahistine for Menière's disease or syndrome" . The Cochrane Database of Systematic Reviews (1): CD001873. doi : 10.1002/14651858.CD001873 . ... "Positive pressure therapy for Ménière's disease or syndrome". Cochrane Database Syst Rev (3): CD008419. doi : 10.1002/14651858.CD008419.pub2 . ... "Positive pressure therapy for Meniere's syndrome/disease with a Meniett device: A systematic review of randomised controlled trials".PRKCB, DTNA, FAM136A, COCH, AQP2, AVP, KCNE1, AQP4, TNF, HLA-DRB1, HLA-C, TRPV4, AQP1, MIF, THRA, TLR3, SLC8A1, SOD2, SLC12A2, RNASE3, CRLF1, SLC4A1, SLC2A1, CCL5, FCGR2C, ADD1, KCNE3, TSHZ1, RAF1, HPGDS, TLR8, TNFRSF12A, PLXNA3, SLC44A2, HRH4, TLR10, SIK1, SEMA3D, VAMAS6, PTPN22, MTRR, NOS3, NOS2, AQP5, AQP6, CASP9, CAV1, CLDN4, CLDN3, ESR1, FCGR2A, FCGR2B, FCGR3A, FCGR3B, GSTM1, HCFC1, HMX2, HSPA1A, HSPA1B, HSPA4, IFNG, IL1A, MTHFR, MTNR1B, MTR, PARP1, NFKB1, NOS1, MICA
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Kawasaki Disease
Wikipedia
(August 2020). "Multisystem inflammatory syndrome in children (MIS-C) associated with SARS-CoV-2: a systematic review" . ... "Anterior uveitis associated with Kawasaki syndrome". Pediatric Infectious Disease . 4 (3): 258–261. doi : 10.1097/00006454-198505000-00010 . ... "Anterior uveitis as the initial sign of adult Kawasaki syndrome (mucocutaneous lymph node syndrome)". ... PMID 10653425 . ^ Smith LB, Newburger JW, Burns JC (February 1989). "Kawasaki syndrome and the eye". The Pediatric Infectious Disease Journal . 8 (2): 116–8. ... "Hydrops of the gallbladder associated with Kawasaki syndrome" (PDF) . Journal of Pediatric Surgery . 22 (10): 956–9. doi : 10.1016/S0022-3468(87)80600-0 .
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Primary Familial Brain Calcification
Gene_reviews
Genetic forms have been described, both syndromic (e.g., 21q and 22q chromosome abnormalities) and nonsyndromic (e.g., pathogenic variants in PTH , GCM2 , SOX3 , CASR , GNA11 ). ... Many individuals with mitochondrial abnormalities have a discrete clinical syndrome such as Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, clinical variability is considerable and many do not fit perfectly into a recognized syndrome. Inherited Congenital or Early-Onset Syndromes Calcifications in the basal ganglia and other brain structures are observed in several congenital or early-onset syndromes with normal calcium-phosphorus metabolism and are frequently associated with intellectual disability. ... This autosomal recessive condition, also referred to as Coats plus syndrome, is caused by pathogenic variants in CTC1 [Anderson et al 2012]. ... Inheritance is autosomal recessive. Down syndrome. Reports of basal ganglia calcifications in Down syndrome are abundant [Takashima & Becker 1985].
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Postpartum Psychosis
Wikipedia
This is a changing clinical state, with transient delusions, fragments of other syndromes, extreme fear or ecstasy, perplexity, confusion and motility disturbances. In the past some experts regarded this as pathognomonic (specific) for puerperal psychosis, but this syndrome is found in other settings, not just the reproductive process, and in men. ... This has been available for treatment and prevention since 1936, [122] so the occurrence of this syndrome in pregnancy should be extinct. ... M Sc thesis, Manchester. ^ name="Oxford 1996, p556-8." ^ name="Cambridge 2017, p228." ^ Price D K, Turnbull G J, Gregory R P, Stevens D R (1989). Neuroleptic malignant syndrome in a case of postpartum psychosis. ... British Medical Journal 285: 972 only. ^ name="Cambridge 2017, p56-58." ^ Shoib S, Dar M M, Arif T, Bashir H, Bhat M H, Ahmed J (2013) Sheehan’s syndrome presenting as psychosis: a rare clinical presentation.
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Wac-Related Intellectual Disability
Gene_reviews
Nomenclature WAC -related intellectual disability is also referred to as DeSanto-Shinawi syndrome (DESSH). Penetrance To date all individuals with WAC -related intellectual disability have the disorder as the result of a de novo pathogenic variant or germline mosaicism. ... Of note, children with easily recognized syndromes or large pathogenic copy number variants identified in prior genetic testing were excluded from this study. ... Approximately 95% of individuals with Smith-Magenis syndrome have the disorder as a result of an interstitial 17p11.2 deletion, which may have been previously excluded by chromosomal microarray testing. 5. Two individuals reported by Lugtenberg et al [2016] had been previously tested for Angelman syndrome. 6. One individual reported by Lugtenberg et al [2016] had previously undergone TCF4 testing. 7. The risk to sibs of a proband depends on the genetic mechanism leading to the loss of UBE3A function. 8. KANSL1 -related ID syndrome is, on most occasions, readily diagnosed by detection of the typical 17q21.31 microdeletion on chromosomal microarray.
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Col4a1-Related Disorders
Gene_reviews
More rarely, systemic symptoms including serum CK elevation with or without muscle cramps [Yoneda et al 2013, Meuwissen et al 2015] and renal involvement including hematuria, unilateral renal atrophy [John et al 2015], renal cysts, and hemolytic anemia [Meuwissen et al 2015] are observed. HANAC Syndrome HANAC ( h ereditary a ngiopathy with n ephropathy, a neurysms, and muscle c ramps) syndrome has been well characterized in six families [Plaisier et al 2007, Plaisier et al 2010]. ... Abdominal MRI showing bilateral renal cysts in a patient with HANAC syndrome [Plaisier et al 2007] Muscle cramps involving a variety of muscles usually occur in affected individuals, with first episodes occurring before age three years. ... Bilateral retinal arteriolar tortuosity is observed in all individuals with HANAC syndrome (see Ocular manifestations below). ... Serum CK elevation and painful muscle cramps, seen in all individuals with HANAC syndrome [Plaisier et al 2010], are only variably present in other affected individuals [Meuwissen et al 2015]. ... However, all six COL4A1 pathogenic variants associated with hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (i.e., HANAC syndrome) are localized in exons 24 and 25 [Plaisier et al 2007, Plaisier et al 2010].