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  • Disfigurement Wikipedia
    In various religious and spiritual contexts, disfigurement has been variously described as being a punishment from the divine for sin (such as Yahweh 's defacement of Cain for Abel 's murder in Judaism), as being (such as Paul of the New Testament 's arguments about Christ 's sufferings) caused by supernatural forces of hate and evil against the good and just, which will be later atoned for, or as being without explanation per se with people just having to endure. ... Find sources: "Disfigurement" – news · newspapers · books · scholar · JSTOR ( July 2016 ) ( Learn how and when to remove this template message ) Lon Chaney 's version of " Erik " in the 1925 film The Phantom of the Opera had pervasive facial disfigurements, including jagged teeth and sunken-in eyes. ... A common origin of his skin and hair colors revolve around chemical burns as the result of the Joker character either falling into, jumping into, or being thrown into a vat of noxious chemicals. In Tim Burton 's 1989 film adaptation of Batman , the Joker character, in this version a criminal originally known as "Jack Napier", receives his distinct rictus grin as the result of a botched plastic surgery that he received after a ricocheted bullet that Napier intended to harm Batman badly injured the Joker's face. ... Perhaps the Punisher's most iconic nemesis, he was played in 2008's Punisher: War Zone by Dominic West . [10] Nick Cave and the Bad Seeds ' popular alternative rock song " Red Right Hand ", first released in 1994's Let Love In , describes a nightmarish figure with a blood-red, disfigured hand (as referred to in the title [11] ).
  • Febrile Infection-Related Epilepsy Syndrome Wikipedia
    PMID 21883180 . ^ van Baalen, A; Häusler, M; Plecko-Startinig, B; Strautmanis, J; Vlaho, S; Gebhardt, B; Rohr, A; Abicht, A; Kluger, G; Stephani, U; Probst, C; Vincent, A; Bien, CG (August 2012). ... Neuropediatrics . 43 (4): 209–16. doi : 10.1055/s-0032-1323848 . PMID 22911482 . ^ Fox, Kristy; Wells, Mary Ellen; Tennison, Michael; Vaughn, Bradley (July 11, 2017). ... Lancet Neurol . 10 : 99–108. ^ Carabello, RH; Reyes, G; Avaria, MF; Buompadre, MC; Gonzalez, M; Fortini, S; Cersosimo, R (2013). "Febrile infection related epilepsy syndrome: a study of 12 patients". ... Retrieved 7 October 2014 . ^ Appenzeller, S; Helbig, I; Stephani, U; Haeusler, M; Kluger, G; Bungeroth, M; Müller, S; Kuhlenbäumer, G; Van Baalen, A (2012). ... Epilepsy Res . 69 : 67–79. ^ Nabbout, R; Mazzuca, M; Hubert, P; Peudennier, S; Allaire, C; Flurin, V; Aberastury, M; Silva, W; Dulac, O (2010).
    SCN1A, IL1B, IL1RN, PCDH19, CXCL1, IL1A, IL1R1, SCN2A
    • Febrile Infection-Related Epilepsy Syndrome GARD
      FIRES (Febrile Infection-Related Epilepsy Syndrome) is a sub-type of cryptogenic new-onset refractory status epilepticus ( NORSE ). NORSE describes a condition in which a healthy person who has not had seizures before, begins having seizures. Over a few days, the seizures increase in frequency and length and evolve into status epilepticus (SE). SE is a prolonged seizure or cluster of seizures during which a person does not regain consciousness between seizures. The seizure activity is considered refractory because it cannot be controlled with standard anti-seizure medications.
    • Febrile Infection-Related Epilepsy Syndrome Orphanet
      A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature. Epidemiology In Germany, the prevalence is estimated at 1/100,000 and annual incidence at 1/1,000,000 in children and adolescents. For adults, prevalence and incidence are unknown. In pediatric cases there is a male predominance, while females seem to be more frequently affected in adulthood.
  • Papillary Fibroelastoma Wikipedia
    . ^ Matsumoto N, Sato Y, Kusama J, Matsuo S, Kinukawa N, Kunimasa T, Ichiyama I, Takahashi H, Kimura S, Orime Y, Saito S (2007). ... PMID 24839649 . ^ Takada A, Saito K, Ro A, Tokudome S, Murai T (2000). "Papillary fibroelastoma of the aortic valve: a sudden death case of coronary embolism with myocardial infarction". ... PMID 18191538 . ^ Gopaldas, R. R.; Atluri, P. V.; Blaustein, A. S.; Bakaeen, F. G.; Huh, J.; Chu, D. (2009). ... Thorac Cardiovasc Surg . 55 (3): 204–7. doi : 10.1055/s-2006-924439 . PMID 17410513 . v t e Cancers from and involving the heart Primary Papillary fibroelastoma Rhabdomyoma Angiosarcoma Teratoma Cystic tumour of the atrioventricular nodal region Other Myxoma Atrial Lipoma Secondary
  • Factor Xiii Deficiency Wikipedia
    FXIII concentrate is only available under the Federal Drug Administration's Investigational New Drug (IND) Program, or through clinical trial. [4] Recombinant factor XIII [ edit ] Recombinant factor XIII (rFXIII) is the only drug alternative to receiving blood transfusions, the traditional treatment for factor XIII deficiency. Novo Nordisk ’s rFXIII, catridecacog , was approved by the US Food and Drug Administration in 2014. ... One of the biggest fears in developing rFXIII was that the body would mount an immune-response to the protein; however, several safety and pharmacokinetics studies have reported no immunogenic response to rFXIII or associated yeast products. [2] See also [ edit ] Factor XIII References [ edit ] ^ Dorgalaleh A, Naderi M, Hosseini MS, Alizadeh S, Hosseini S, Tabibian S, et al. (2015). ... Cite journal requires |journal= ( help ) ^ a b c Lovejoy A, Reynolds T, Visich J, Butine M, Young G, Belvedere M, Blain R, Pederson S, Ishak L, Nugent D (2006). "Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency" . ... External links [ edit ] Classification D ICD - 10 : D68.2 ICD - 9-CM : 286.3 OMIM : 134570 134580 MeSH : D005177 DiseasesDB : 31412 SNOMED CT : 18604004 External resources eMedicine : ped/3040 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Hematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Hemobilia Hemoperitoneum Hematocele Hematosalpinx joint Hemarthrosis
    F13A1, F13B, F2, F3, F10, LPA, MMP2, MMP9, TNFSF14, NBEAL2
    • Factor Xiii, B Subunit, Deficiency Of OMIM
      A number sign (#) is used with this entry because deficiency of factor XIII (F13) subunit B is caused by homozygous or compound heterozygous mutation in the F13B gene (134580) on chromosome 1p. See also deficiency of factor XIII (F13) subunit A (613225), which is caused by mutation in the F13A gene (134570) on chromosome 6p. Description Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.
    • Factor Xiii Deficiency GARD
      Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.
    • Factor Xiii, A Subunit, Deficiency Of OMIM
      Girolami et al. (1977) found 2 sisters born of a nonconsanguineous marriage with deficiency of subunit A and normal subunit S (now called B). By inference, they suggested that an X-linked mutation might involve the S subunit.
    • Congenital Factor Xiii Deficiency Orphanet
      Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. Epidemiology Prevalence of homozygous forms is estimated at around 1/2,000,000. Both sexes are equally affected. Clinical description Congenital FXIII deficiency can manifest at any age, but diagnosis is often made during infancy. Umbilical stump bleeding manifests in up to 80% of patients. Other common signs include intracranial hemorrhage (25-30%), soft tissue bleeding, bruising, hemarthroses (20%), and recurrent spontaneous abortions.
  • Neurocysticercosis Wikipedia
    Neurocysticercosis / ˈ nj ʊər oʊ ˌ s ɪ s t i ˌ s ɜːr ˈ k oʊ s ɪ s / is a specific form of the infectious parasitic disease cysticercosis that is caused by the infection with Taenia solium , a tapeworm found in pigs. ... PMID 20045747 . ^ Abba K, Ramaratnam S, Ranganathan LN (17 March 2010). Abba K (ed.).
    TLR4, IL10, GSTT1, SLCO6A1, HPGDS, COX1, TACSTD2, ICAM1, GSTK1, GSTM1, GSTM3, CYTB, CD14, EPC1, FOXP3, CD38, VEGFA, TRAF1, TNF, CTSB, TAC1, SLC12A3, FGF2, GSTP1, MMP9, FOLH1, ISG20, FAS, IL2RA, IFNG, GFAP, HPRT1, HLA-A, ALK
  • Cerebrovascular Disease Wikipedia
    Benjamin; Hoang, Jenny; Hunt, Christopher H; Kennedy, Tabassum A; Khalessi, Alexander A; Mack, William; Patel, Nandini D; Perlmutter, Joel S; Policeni, Bruno; Schroeder, Jason W; Setzen, Gavin; Whitehead, Matthew T; Cornelius, Rebecca S; Corey, Amanda S; Corey, A. S (2017). "ACR Appropriateness Criteria ® Cerebrovascular Disease" . ... C; Fisher, M; Furie, K. L; Heck, D. V; Johnston, S. C; Kasner, S. E; Kittner, S. J; Mitchell, P. ... T; Hoh, B. L; Janis, L. S; Kase, C. S; Kleindorfer, D. O; Lee, J. ... Donald; Saver, Jeffrey L.; Albers, Gregory W.; Alberts, Mark J.; Chaturvedi, Seemant; Feldmann, Edward; Hatsukami, Thomas S.; Higashida, Randall T.; Johnston, S.
    ACE, TNF, ITGB3, ICAM1, ITGA2B, NOS2, EDNRA, COL4A1, HDAC9, F2, F5, CST3, MTHFR, NOTCH3, LPA, APP, ZFHX3, CASZ1, ABO, SH2B3, ALB, ALOX5AP, NOS3, PLA2G7, IL1B, GLA, PTGS2, IL1RN, IL6, PDE3A, KCNK3, LRCH1, CDK6, PLAT, EDN1, WNT2B, APOA1, VKORC1, UCP2, PITX2, JAK2, SOD1, TGFB1, MMP12, FGA, RGS7, NKX2-5, COL3A1, FOXF2, CXCR3, FOXC1, NR3C1, TSPAN2, PLAU, IL10, VEGFA, AGER, CCL2, PRKAA2, MMP9, MMP3, ITGAV, IRF1, HTR4, PRPF8, ZCCHC14, TBX3, PAOX, PDE4D, IGF1, CASP3, ITM2B, ANK2, SMOX, SH3PXD2A, NGF, MMP2, ANGPT1, S100B, ADM, KDR, HDAC2, LIF, AGTR2, ANGPT2, MIF, NOS1, PDE5A, ESR2, HGF, IL18, TIMP1, EPHX2, APOD, ASCL1, HDAC1, NEDD4L, CASP2, NDUFC2, PDGFRA, MAPK8, GFRA1, CFH, TGFA, HDAC4, CXCL1, CD44, SRC, CAST, NPY1R, NDFIP1, PPP1R15A, NOSTRIN, NPPA, ERBB4, ACAN, HMGCR, CSPG4, PRKCD, BMP4, CBS, PRKCH, LDLR, ALDH2, CDKN2B-AS1, PIK3CA, ADA2, ENG, TREX1, ABCC6, TCF7L2, PROCR, KCNQ1, HBB, PRKAG2, MPL, GTF2I, FTO, TNXB, PARK7, HTRA1, NAA25, ELN, GUCY1A1, SMARCA4, PHACTR1, LIPC, FLNA, APOE, NFE2L2, PHF14, MICAL2, PHF20L1, COX7A2L, AGXT, ALOX5, HIF1A, ASB3, GTF2IRD1, GDF15, CCHCR1, MYD88, POLK, ZC3HC1, CDKAL1, AQP4, TET2, MYH11, DPP4, PTPRG, GYS1, PTPRF, FADS2, ADIPOQ, SEMA5B, CELSR2, SNAP29, RNF43, GSDME, ZGLP1, FADS1, AGTR1, GRHL1, PMF1-BGLAP, GCG, SERPINE1, SLC19A2, PLCG1, F10, TRIM29, FASTK, ABHD2, LIPC-AS1, ADAMTS13, TSPAN15, PMF1, SIK3, LINC02828, SERPINA5, PCNT, GCKR, TSPOAP1-AS1, ESR1, CERT1, AGT, GNAQ, GLP1R, BAZ1B, JAG1, ACAD9, C20orf181, LINC00624, PRG3, TBL2, PPARG, EPO, PON1, PLG, GFAP, SIGMAR1, CYP11B1, CHDH, HMGB1, SLC5A2, MECP2, INPPL1, TTR, CHD3, TULP2, IMPA2, SHBG, FUNDC2, UBE2Z, ILF3, F11-AS1, TSPAN33, BDNF, TCF21, SELP, COL4A2, MIR100HG, TPP2, EHMT1, XYLT1, SLC5A4, FMNL2, NLRP3, LIMK1, CEACAM20, SPSB4, ARL6IP6, SLC7A13, TGFBI, LEP, LAMC2, NAGS, TLR4, CCM2, PCSK9, SPINK2, COPD, ITPK1, XYLT2, PKD1L3, VHL, CSF3, CMAHP, ATXN2, SLC39A8, RFC2, REN, TRNL1, PLPP3, HSD11B2, WDR12, ALDH1A2, CARMIL1, ZPR1, SELENBP1, ZCCHC8, CYP2C19, MAML3, MMUT, SLC44A2, CCDC102B, CSF2, WDFY4, CLIP2, PAPPA2, VWF, ZNF880, CXCL12, SCN5A, ZAP70, SUGP1, CRP, SLC30A3, MPO, ATP2B1, CAD, FGB, NHS, SPP1, F3, LGALS3, LPL, DBP, ACTB, SLC6A4, PROC, PCYT1A, NINJ2, VCAM1, GABPA, ACSM3, SGCA, AVP, RETN, APOA5, SIRT1, CERNA3, ADD1, APOB, IL17A, PSG2, P2RY12, CEACAM5, GDNF, NPPB, ENO2, CEACAM7, INSRR, REST, CEACAM3, DLG4, DECR1, PARP1, ADRB2, CTNND1, NGB, KL, RCBTB1, FABP4, IL1A, ABCA1, THBD, CXCR4, MIR126, DSPP, TMX2-CTNND1, TP53, CYP4F2, SELE, GOLGA6A, ABCB1, BRCA1, ITGB2, CSE1L, PTGS1, GH1, HSPB3, PLA2G15, PAEP, ACSS2, ACCS, F2R, CPB2, HSPA4, SLC8A1, G6PD, PLA2G2A, HMOX1, CD14, APC, BCAR1, CDKN2A, HABP2, CLDN5, STAT3, TRPM4, ITGA2, NRG1, CYP11B2, CHM, CYBB, CX3CR1, XRCC1, HSPB1, HSPB2, TP63, CD36, FGF23, TEK, PLA2G6, KLK3, AR, RBP4, TNFRSF11B, ACTA2, NR3C2, F11, HPSE, ACHE, TSPO, PLA2G1B, PIK3CG, SIRT3, CAV1, FGFR1, MAG, PIK3CD, PIK3CB, CST12P, OLR1, PREP, COX8A, CXCL8, OCLN, ACE2, SERPINB2, MANF, NLN, MAPK3, CCR2, CXCL10, ALOX15, ANXA1, TLR2, LTA, TAC1, CD59, KCNJ13, ABCC8, CDK5, SOD2, C3AR1, C3, SLC25A1, CCL11, CETP, CIMT, CD200, IRF4, MIR146A, RAC1, CHI3L1, LCN2, MIR221, FGG, CDKN2B, HP, CYP2C9, MTOR, SAMHD1, GJA1, SETD2, CYBA, GAL3ST1, DLD, SLC35A1, PTPN22, TREM2, PROZ, GSK3B, GPR17, NTN1, GAS6, WDHD1, ABCB6, GP6, GRIN2B, GNB3, DCX, NOX4, PVR, CASP6, ABCD2, MIR363, IL33, CD200R1, PYCARD, TGM2, GP1BA, GSTM1, NRGN, RPSA, ENTPD1, LAD1, THBS1, BCL2, MIR21, PWAR1, GRIN1, MAP3K5, SGSM3, MIR223, BMP7, EFNA5, NEFL, SLC12A2, APOC3, GRIA2, SMN1, SMN2, IL37, APEX1, NPY, IS1, VPS51, SERPINA3, EGR1, KLK4, MMP1, ANGPTL4, ADAM17, PTX3, TIMP2, TBXAS1, NOTCH1, AHR, OPA1, CBSL, TCFL5, PC, UCHL1, CNR1, ARG1, IKZF5, F13A1, COX2, NR1I2, PDE4A, PADI4, ZMYM2, IL2, RNF213, TNFSF10, MTCO2P12, AOC3, HTR2A, FN1, IGFBP3, IGFALS, ENPP1, IFNG, ARRB2, MIR149, MMRN1, CCR5, SLC2A1, GAP43, SLC52A2, HDAC6, TM7SF2, TSPAN31, NANS, REG1A, PON2, POLG, TNFRSF1A, TNNI3, DHX40, DAPK1, HFE, F8, MARCHF1, TRPM2, ADH1B, HLA-DRB1, CYP4A11, CHAT, SH2B2, RELA, MIR210, REM1, SRA1, PVALB, MIR15A, MIR200B, PTPRC, ABCD3, SERPINB6, PTH, POU2F3, ATF6, TBC1D9, RBPMS, BTG3, UPK3B, NES, PPARA, PANX1, DEFB4B, ATG7, PPIA, TPSG1, CAP2, MAPK1, PSMD4, RENBP, MIR503, MAP2K1, PRL, MIR424, POLDIP2, MIR133B, CDNF, MIR17HG, PROS1, PSD, GDF11, CEBPZ, MIR155, TIGAR, FLVCR1, RTEL1, LRRFIP1, TRAF6, MSC, SACM1L, TREM1, MAP9, TMSB4X, PDGFD, SESN2, SYS1, GDE1, GSTO1, TIMP3, ORAI1, THY1, EIF2AK3, TH, KRT90P, CLDN1, F2RL3, TNFSF4, KALRN, SPHK2, CSRP3, MRS2, ST8SIA4, APOL1, LRRC8A, NDRG2, CFLAR, HDAC3, CDK5R1, CPAT1, PKNOX2, TRPV1, GORASP1, UGCG, WNK1, TYMS, WNT3A, TNFRSF12A, RNASE3, MALAT1, UBQLN1, SHH, SGK1, RGMB, GADL1, MFN2, SFPQ, PWAR4, RBM8A, CDCA5, CCS, MIR107, MIR122, SCN2A, MIR132, MIR134, S100A9, RYR1, OR10A4, NPAS4, RGS5, APH1A, PTGES, AZIN2, TCN2, ZEB1, MARCHF10, CENPV, TBL1X, CKLF, TAL1, SYT1, PRDX6, TRIM21, SRF, KIF6, SOX9, ARHGEF10, SOAT1, AKR1A1, A2M, GPER1, DHCR24, GPT, GPX1, MC4R, MBL2, GPX3, GRN, NQO1, DEFB4A, COX1, MAS1, CALCA, GRM2, MAP6, MAOB, CALR, CAPN1, C4B, BTF3P11, BSG, SEPTIN1, GCHFR, ARNTL, ARSA, MSTN, MSR1, STS, ALDH7A1, GDF10, MNAT1, RCAN1, MMP10, MFAP1, BCKDHA, GCLC, IFNGR2, CYP19A1, CYP3A5, CYP2J2, IRF5, INS, CD68, IL13, CLDN7, CPB1, IL12A, TNC, CXCR2, IL9, COL17A1, IL6R, IL4R, IL4, CHRM3, IFNB1, INPP5D, CD40LG, CYP1A1, CD40, LTC4S, LTA4H, CASP1, CTSL, HBA1, HBA2, CASP9, CASQ1, CTNNB1, CSF1R, KCNK2, HPX, ITGAM, HSPA1A, ITGA4, APRT, IGFBP7, ADCYAP1, NDUFAB1, ENPEP, F7, MYH6, MYO5A, EZH2, AKT1, P4HB, ADH1C, FCN2, FES, NFKB1, ELAVL2, OGG1, NOP2, APLNR, ODC1, ERCC2, NPR3, NR4A2, FGF2, GRK2, NT5E, PAWR, NTF3, ACR, PDGFRB, FABP2, ELANE, MEPE, PCDHGA3, KANK2, LTB4R2, CTLA4, CTAA1, ANKS1B, SPIRE1, IL25, FAM20C, AGXT2, ACKR3, VCAN, RTN4, CSF3R, PELI1, JPH3, ERN1, ALG1, MOAP1, MAPK14, AMACR, NSUN5, CLU, CCDC88A, DDAH1, CUX1, SELENOS, CCR6, HDAC8, SS18L1, ZC4H2, NKRF, MARCKSL1, TSKU, RTN4R, SMUG1, MYDGF, CHMP2B, NBEAL1, SLC12A5, RNF19A, GCA, NLRC4, COMT, SNHG1, SCAF1, IL21, CRH, HPSE2, SH3BP4, IGAN1, CPOX, F9, F12, NEUROG2, LRRC4, TINAGL1, CP, FABP1, CXCL16, SPDEF, CRYGD, CRHBP, LTB4R, COL1A2, ALPK3, SH3RF1, MPP5, CRYAB, CHD8, COL11A2, CRK, ROBO3, CHD7, GBA3, ESD, MARK4, BACE1, CRIP1, HAMP, EGF, DRAM1, STAP2, FXYD5, TLR7, MARK2, DYRK1A, UBR5, ANGPT4, DVL1, HBEGF, LAMTOR2, ENSA, DCDC2, DTNA, SCLY, SIRT6, IL23A, LSR, HTRA2, ATP6V1H, SF3B6, CMPK1, DRD1, DPYSL2, CLEC1B, MZB1, MRPL18, RMC1, PSAT1, NT5C, DUOX2, EEF1A2, IL20, IL22, NEUROG3, AK3, F11R, TRAT1, ECE1, MRPL4, SH3GLB1, EDNRB, EGR2, EDN3, EDN2, S1PR1, EGFL7, EDA, BCL11A, EPHA4, CXADR, DUOX1, ANKRD1, SIGLEC7, TRPM7, NPTN, EPHB4, DEFB1, DCN, SLC17A5, TTC19, MKS1, SERGEF, SARS2, TUG1, LRIT1, MOCOS, ERCC5, RHOT1, RNLS, SLC40A1, IMPACT, CYP2C8, CACYBP, TMED9, INTU, ANGPTL3, DNMT3B, DNASE1, DMRT1, RABGEF1, TERF2IP, DMD, XRN1, TOLLIP, KRT20, DIAPH2, CROT, EPB41L4B, HPGDS, CRCP, SERP1, IL17B, DLL4, UGT1A1, EPHB2, AGO2, PIK3C2B, COL18A1, CKMT2, FASLG, MIR141, MIR143, MIR145, ARR3, AREG, MIR17, MIR181C, MIR195, MIR200A, AQP9, MIR206, FAS, SERPINC1, MIR211, APOH, MIR24-1, MIR29B1, MIR29B2, MIR34A, MIR93, MIR98, ANG, TNFSF12-TNFSF13, AMH, MIR140, MIR130A, PPP1R42, BBS2, SERPINA9, RAB7B, CEACAM1, BGLAP, BCL2A1, MCIDAS, BCHE, IRF2BP2, ASPG, SLC26A5, ENHO, THEMIS, ATM, RTL1, CCL4L1, SMIM10L2A, AZGP1, AXL, CRIP3, KIF1A, MIR103A1, ATRX, MIR124-1, MIR125A, ZFAS1, AMBP, MIR371A, OPN1MW3, ENDO1, ADRB1, MIR1247, FAS-AS1, MTRNR2L8, APELA, ADRA2B, ADORA2A, RBM14-RBM4, PTCSC3, PGR-AS1, EMSLR, AKR1B1, ADCY9, LOC102724197, ADAM10, ACVRL1, ACOX1, CREST2, ASIC1, RN7SL263P, ACACA, LOC110806262, STIN2-VNTR, SOD2-OT1, AGRP, MIR874, MIR374B, DEFB104B, ALCAM, MIR451A, MIR410, MIR146B, MIR494, MIR181D, MIR499A, MT1IP, SMIM10L2B, CXADRP1, SPAG11A, SFTPA1, GGTLC5P, SCARNA6, MIR574, MIR638, GGTLC3, GGT2, OPN1MW2, AIF1, GGTLC4P, AHSG, CELIAC2, BHMT, CHRNA4, TSLP, PPP1R1B, SLA2, MAML2, SPIRE2, SPZ1, ATP5MD, ZNF566, SNHG12, ABCC11, CD38, DCLK3, CD34, CD47, KCNK17, RHOT2, CD28, LRSAM1, MS4A1, CREB3L1, TRIM47, NLRP12, TIMD4, GGTLC1, INTS4, TSPAN10, RNF146, BID, CDKN1B, MMEL1, NOX5, CGA, TNFAIP8L2, CECR, MYH14, SHCBP1, CEBPD, CEBPB, AGBL2, RABEP2, MINDY3, TUBB1, CDC42, ZC3H12A, ARMC9, RAB11FIP1, CDC25A, COASY, PDCD1LG2, MPIG6B, CD74, FANCC, INTS5, MTG1, SERPINH1, SPECC1, CACNA1C, C1orf52, HJV, PDIK1L, KCTD7, CALM1, CALD1, PTCRA, MLKL, MCEMP1, TET3, HTR3D, PRSS55, MUC16, CACNA1A, CA8, MSRB3, CALHM1, CA3, HSPA12A, TAS2R50, C5, HECTD4, BTBD8, STPG4, TICAM1, LYPD4, APCDD1, WIPF2, TP53INP1, SERPINA6, CAT, TMEM54, CASR, LRRC3B, CASP8, HSPA12B, LRG1, ANTXR2, GSTO2, FOPNL, TSACC, RBM45, CARS1, DEFB104A, TRIM69, TRPM6, CACUL1, TTC7B, CAPN2, IL34, UNC45B, DDAH2, MGLL, PSD4, NNT, MAT1A, MARS1, SOX10, SPG7, MAPT, MAP2, SREBF1, MAOA, SSB, ST2, STAT1, MAL, STAT5A, STAT5B, STAT6, STC1, SULT1E1, STIM1, STK11, SMAD4, SMAD3, SMAD2, SMAD1, MAP3K7, TAT, MATN2, SUMO2, SUMO3, SLC6A13, MET, SHMT1, SI, SLC1A2, MEN1, SLC4A1, ME1, MDM4, SLC6A1, MDM2, SLC6A11, SLC8A2, SMS, SMCP, SLC8A3, CD46, SLC12A3, SLC19A1, MCL1, SLPI, SMARCA1, MBP, SMO, SMPD1, TBX1, LRP6, LRP4, TRAF2, JAK3, ITPR2, TNFRSF1B, ITGAL, TNNT2, TNR, ITGA5, IRF6, CRISP2, NR2C2, TRAF1, HSP90B2P, TLR5, TRPC1, IRF3, IDO1, TXN, FOXK2, TYRP1, UBE2V1, IL15, UCN, IL12B, UMOD, KCNJ11, KCNMA1, TCF3, LGALS3BP, LRP1, LOXL1, LOX, LNPEP, TRA, PRDX2, TEAD1, TMBIM6, LIFR, TFPI, LGALS9, LGALS2, KIR3DL1, TGFBR1, TGFBR3, LGALS1, LDHC, LBP, KTN1, KRT7, KNG1, KLKB1, KLK1, TIMP4, SHC1, MFGE8, MAP3K11, PSMB7, NRAS, SLC11A2, NPC1, PRNP, NOTCH4, KLK6, NME1, NM, PSEN1, NINJ1, PSMA6, PSMD9, PRKAR1A, PTEN, PTGER1, PTGER2, PTGER4, NEDD9, NCAM1, PTPRB, NBN, NUBP1, MYO6, GADD45B, NRDC, PRH2, MTRR, SERPINF2, PFN1, PFKFB3, SERPINF1, PIN1, PKM, PDGFB, PDC, PLAG1, PAM, PAK3, PRDX1, PLIN1, PRH1, FXYD1, PLXNA2, PLXNB1, PMAIP1, POMC, P2RX7, P2RX4, PON3, OSM, OMG, PTPA, MUC2, MOK, SRSF3, CCL4, S100A12, MT1E, MT1B, SARS1, MT1A, SCD, MS, MRC1, SCT, MOS, CCL3, CCL7, MT1F, MOG, CCL19, CCL25, CX3CL1, SDC4, MMP14, SELL, SELPLG, SELENOP, SETMAR, MMP8, S100A10, S100A8, RAG1, MT1M, RAP1A, RARRES2, RASA1, RASGRF2, MTR, OPN1LW, MTNR1A, MT2A, MT1X, MT1L, RFC1, TRIM27, S100A1, MT1JP, RHO, RNASE2, MT1H, ROCK1, ROS1, RPS6KB1, RRAD, RTN1, MT1G, RYR3, UNG, UROD, USF1, OPN1MW, APBB3, KLF2, CITED2, SEMA3A, TUBA1B, IRF9, NOD1, SPAG11B, RAPGEF3, RBM14, EMG1, CAP1, FSTL3, SEMA4D, CHERP, GBE1, GATM, GATA4, SORBS1, TXNRD2, GATA3, AHSA1, GART, PAICS, GEM, RAMP1, TXNIP, GJA4, IQCB1, NOS1AP, SEMA3E, GPR37, RAPGEF5, KEAP1, GP9, FGF19, NR1I3, GOLGB1, GLO1, MAMLD1, RAMP2, GIPR, DNM1L, NR1H3, GIP, GHR, NAMPT, GGT1, FARP1, TRIM13, GGCX, CDK2AP2, PDLIM5, POSTN, GRIN2A, MLC1, NTNG1, CARD8, FHL1, FGFR4, SIRT2, PDCD11, MYH15, FAIM2, KIF1B, FGF1, CYFIP1, DMXL2, VEGFD, MAN2B2, FCN1, FCGR1A, SIRT5, FBN2, FAP, TARDBP, TRS-AGA2-3, NPTXR, BRD4, TNFRSF13B, PHB, FOXJ1, YME1L1, STIP1, GALNT3, GALNT2, FUT1, PPARGC1A, LYVE1, BRD8, FUS, SUB1, SPIN1, PRSS21, FSHMD1A, COPS5, USP18, FXN, FPR2, TPPP, FOLH1, ADAMTS5, NUP42, RPP14, PSIP1, FOXO3, PDCD10, FOXM1, GPX4, CELSR1, VASP, HTR1D, AKAP1, MADCAM1, BRAP, IDUA, IDS, KLF11, SEMA7A, IDE, IAPP, KHSRP, HTR2B, RTCA, IFNAR2, HTR1A, HTC2, VAMP8, BECN1, TNFRSF25, MBTPS1, RNGTT, TNFSF14, TNFSF12, HSPA2, TNFRSF10A, IFNAR1, CUBN, SYNGAP1, GET1, IL11, VGF, VIM, BEST1, VSNL1, VTN, CXCR1, WAS, IL6ST, WNT3, WNT5A, XBP1, NR4A3, XPNPEP1, ZFP36, MZF1, ZBTB16, IL2RB, IL1R1, IGSF1, PRRC2A, AIMP2, GHS, TFPI2, NRP1, HSPA1L, ABCG1, ADAMTS2, GZMB, GYPC, ABCG2, GSTZ1, GSTT1, AIM2, GSTM2, HOMER2, HOMER1, ROCK2, MAPK8IP1, ADAMTS1, COX5A, GSTA1, GSR, TBPL1, NPEPPS, GSN, CXCL14, CCL4L2, CXCL3, CLOCK, GRINA, CARTPT, GRAP2, ZFYVE9, HSPA1B, HLA-DPA1, PROM1, HRES1, HRH1, PER2, TLX2, MGAM, HNRNPU, HMOX2, HLA-DRB3, HLA-DPB1, SOCS3, SEMA5A, H1-3, ARTN, ANGPTL1, HLA-B, AIFM1, CBFA2T2, HLA-A, SLC33A1, HACD1, UBE2K, NOG, HCLS1, H3P8
    • Stroke Mayo Clinic
      Overview An ischemic stroke occurs when the blood supply to part of the brain is interrupted or reduced, preventing brain tissue from getting oxygen and nutrients. Brain cells begin to die in minutes. A stroke is a medical emergency, and prompt treatment is crucial. Early action can reduce brain damage and other complications. The good news is that many fewer Americans die of stroke now than in the past. Effective treatments can also help prevent disability from stroke. Symptoms If you or someone you're with may be having a stroke, pay particular attention to the time the symptoms began. Some treatment options are most effective when given soon after a stroke begins.
    • Stroke Wikipedia
      Death of a region of brain cells due to poor blood flow For other uses, see Stroke (disambiguation) . Stroke Other names Cerebrovascular accident (CVA), cerebrovascular insult (CVI), brain attack CT scan of the brain showing a prior right-sided ischemic stroke from blockage of an artery. Changes on a CT may not be visible early on. [1] Specialty Neurology , stroke medicine Symptoms Inability to move or feel on one side of the body, problems understanding or speaking , dizziness , loss of vision to one side [2] [3] Complications Persistent vegetative state [4] Causes Ischemic (blockage) and hemorrhagic (bleeding) [5] Risk factors High blood pressure , tobacco smoking , obesity , high blood cholesterol , diabetes mellitus , previous TIA , end-stage kidney disease , atrial fibrillation [2] [6] [7] Diagnostic method Based on symptoms with medical imaging typically used to rule out bleeding [8] [9] Differential diagnosis Low blood sugar [8] Treatment Based on the type [2] Prognosis Average life expectancy 1 year [2] Frequency 42.4 million (2015) [10] Deaths 6.3 million (2015) [11] A stroke is a medical condition in which poor blood flow to the brain causes cell death . [5] There are two main types of stroke: ischemic , due to lack of blood flow, and hemorrhagic , due to bleeding . [5] Both cause parts of the brain to stop functioning properly. [5] Signs and symptoms of a stroke may include an inability to move or feel on one side of the body, problems understanding or speaking , dizziness , or loss of vision to one side . [2] [3] Signs and symptoms often appear soon after the stroke has occurred. [3] If symptoms last less than one or two hours, the stroke is a transient ischemic attack (TIA), also called a mini-stroke. [3] A hemorrhagic stroke may also be associated with a severe headache . [3] The symptoms of a stroke can be permanent. [5] Long-term complications may include pneumonia and loss of bladder control . [3] The main risk factor for stroke is high blood pressure . [6] Other risk factors include tobacco smoking , obesity , high blood cholesterol , diabetes mellitus , a previous TIA, end-stage kidney disease , and atrial fibrillation . [2] [6] [7] An ischemic stroke is typically caused by blockage of a blood vessel, though there are also less common causes. [12] [13] [14] A hemorrhagic stroke is caused by either bleeding directly into the brain or into the space between the brain's membranes . [12] [15] Bleeding may occur due to a ruptured brain aneurysm . [12] Diagnosis is typically based on a physical exam and supported by medical imaging such as a CT scan or MRI scan . [8] A CT scan can rule out bleeding, but may not necessarily rule out ischemia, which early on typically does not show up on a CT scan. [9] Other tests such as an electrocardiogram (ECG) and blood tests are done to determine risk factors and rule out other possible causes. [8] Low blood sugar may cause similar symptoms. [8] Prevention includes decreasing risk factors, surgery to open up the arteries to the brain in those with problematic carotid narrowing , and warfarin in people with atrial fibrillation . [2] Aspirin or statins may be recommended by physicians for prevention. [2] A stroke or TIA often requires emergency care. [5] An ischemic stroke, if detected within three to four and half hours, may be treatable with a medication that can break down the clot . [2] Some hemorrhagic strokes benefit from surgery . [2] Treatment to attempt recovery of lost function is called stroke rehabilitation , and ideally takes place in a stroke unit; however, these are not available in much of the world. [2] In 2013, approximately 6.9 million people had an ischemic stroke and 3.4 million people had a hemorrhagic stroke. [16] In 2015, there were about 42.4 million people who had previously had a stroke and were still alive. [10] Between 1990 and 2010 the number of strokes which occurred each year decreased by approximately 10% in the developed world and increased by 10% in the developing world. [17] In 2015, stroke was the second most frequent cause of death after coronary artery disease , accounting for 6.3 million deaths (11% of the total). [11] About 3.0 million deaths resulted from ischemic stroke while 3.3 million deaths resulted from hemorrhagic stroke. [11] About half of people who have had a stroke live less than one year. [2] Overall, two thirds of strokes occurred in those over 65 years old. [17] Contents 1 Classification 1.1 Definition 1.2 Ischemic 1.3 Hemorrhagic 2 Signs and symptoms 2.1 Early recognition 2.2 Subtypes 2.3 Associated symptoms 3 Causes 3.1 Thrombotic stroke 3.2 Embolic stroke 3.3 Cerebral hypoperfusion 3.4 Venous thrombosis 3.5 Intracerebral hemorrhage 3.6 Other 3.7 Silent stroke 4 Pathophysiology 4.1 Ischemic 4.2 Hemorrhagic 5 Diagnosis 5.1 Physical examination 5.2 Imaging 5.3 Underlying cause 5.4 Misdiagnosis 6 Prevention 6.1 Risk factors 6.1.1 Blood pressure 6.1.2 Blood lipids 6.1.3 Diabetes mellitus 6.1.4 Anticoagulation drugs 6.1.5 Surgery 6.1.6 Diet 6.2 Women 6.3 Previous stroke or TIA 7 Management 7.1 Ischemic stroke 7.1.1 Thrombolysis 7.1.2 Endovascular treatment 7.1.3 Craniectomy 7.2 Hemorrhagic stroke 7.3 Stroke unit 7.4 Rehabilitation 7.4.1 Physical and occupational therapy 7.4.2 Speech and language therapy 7.4.3 Devices 7.4.4 Physical fitness 7.4.5 Other therapy methods 7.5 Self-management 8 Prognosis 8.1 Physical effects 8.2 Emotional and mental effects 9 Epidemiology 10 History 11 Research 12 See also 13 References 14 Further reading 15 External links Classification There are two main categories of strokes. Ischemic (top), typically caused by a blood clot in an artery (1a) resulting in brain death to the affected area (2a). Hemorrhagic (bottom), caused by blood leaking into or around the brain from a ruptured blood vessel (1b) allowing blood to pool in the affected area (2b) thus increasing the pressure on the brain.
  • Neonatal Stroke Wikipedia
    . ^ Derugin, N., Ferriero, D. M., Vexler, Z. S. (1998) Neonatal reversible focal cerebral ischemia: a new model. Neuroscience Research 32, 349-353. ^ a b c d e f g h i j k l m n Rees, S., Harding, R., Walker, D. (2011). ... International Journal of Developmental Neuroscience, 29, 551-563. ^ a b c d e f g h i j Chauvier, D., Renolleau, S., Holifanjaniaina, S., Ankri, S., Bezault, M., Schwendimann, L., et al. (2011). ... Stroke, 37, 2678-2683. doi : 10.1161/01.STR.0000244810.91105.c9 . ^ a b Alberi, L., Chi, Z., Kadam, S. D, Mulholland, J. D., Dawson, V. ... Seminars in Fetal and Neonatal Medicine, 14(5), 323-328 ^ Reeves, S., A., Gibbs, R., S., Clark, S., L. (2011).
    F5, ACTA2, MTHFR, PC, PROC, S100A10, EXOSC3, OLIG1
  • Ovarian Pregnancy Wikipedia
    P.; Bhatt, S; Dogra, V. S. (2008). "Diagnostic clues to ectopic pregnancy" . ... New York: MacMillan. p. 255ff. ^ a b c d e f g h Helde, M. D.; Campbell, J. S.; Himaya, A.; Nuyens, J. J.; Cowley, F. ... European Journal of Obstetrics & Gynecology and Reproductive Biology . 114 (1): 92–96. doi : 10.1016/j.ejogrb.2003.09.038 . PMID 15099878 . ^ Priya, S.; Kamala, S.; Gunjan, S. (2009). "Two interesting cases of ovarian pregnancy after in vitro fertilization-embryo transfer and its successful laparoscopic management". ... PMID 16749658 . ^ Manjula, N. V.; Sundar, G.; Shetty, S.; Sujani, B. K.; Mamatha. "A rare case of a ruptured ovarian pregnancy" . ... PMID 17000523 . ^ Kudo, M.; Tanaka, T.; Fujimoto, S. (1988). "A successful treatment of left ovarian pregnancy with methotrexate".
  • Anti-Aqp4 Disease Wikipedia
    Early data suggested that then-practiced forms of HSCT were very effective only in the short term. [24] However later study data had most patients thriving, with no relapses within 5 years. [25] References [ edit ] ^ a b Wingerchuk DM, Banwell B, Bennett JL, Cabre P, Carroll W, Chitnis T, de Seze J, Fujihara K, Greenberg B, Jacob A, Jarius S, Lana-Peixoto M, Levy M, Simon JH, Tenembaum S, Traboulsee AL, Waters P, Wellik KE, Weinshenker BG (July 2015). ... S2CID 6371457 . ^ Masaki K, Suzuki SO, Matsushita T, Matsuoka T, Imamura S, Yamasaki R, Suzuki M, Suenaga T, Iwaki T, Kira J (2013). ... S2CID 3808843 . ^ Bergamaschi R, Tonietti S, Franciotta D, Candeloro E, Tavazzi E, Piccolo G, Romani A, Cosi V (February 2004). ... S2CID 3443914 . ^ Arru G, Sechi E, Mariotto S, Farinazzo A, Mancinelli C, Alberti D, Ferrari S, Gajofatto A, Capra R, Monaco S, Deiana GA, Caggiu E, Mameli G, Sechi LA, Sechi GP (2017). ... PMID 28017256 . S2CID 206291987 . ^ Watanabe S, Misu T, Miyazawa I, Nakashima I, Shiga Y, Fujihara K, Itoyama Y (September 2007).
  • Distal Spinal Muscular Atrophy Type 1 Wikipedia
    M.; Guenther, U. -P.; Rudnik-Schoneborn, S.; Varon, R.; Zerres, K.; Schuelke, M.; Hubner, C.; Von Au, K. (2007). ... PMID 19019300 . ^ a b Wang, C. H.; Finkel, R. S.; Bertini, E. S.; Schroth, M.; Simonds, A.; Wong, B.; Aloysius, A.; Morrison, L.; Main, M.; Crawford, T. ... PMID 17761659 . ^ Nizzardo, M; Simone, C; Rizzo, F; Salani, S; Dametti, S; Rinchetti, P; Del Bo, R; Foust, K; Kaspar, B. ... M.; Guenther, U. -P.; Rudnik-Schoneborn, S.; Varon, R.; Zerres, K.; Schuelke, M.; Hubner, C.; Von Au, K. (2007). ... PMID 18263757 . Messina, M. F.; Messina, S.; Gaeta, M.; Rodolico, C.; Salpietro Damiano, A.
    IGHMBP2, SMN1, SMN2, ACTB, CSF2, FUT4, LAMC2, CXCR4, LAS1L, POTEF
    • Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 OMIM
      A number sign (#) is used with this entry because autosomal recessive distal spinal muscular atrophy-1 (DSMA1), also referred to as spinal muscular atrophy with respiratory distress (SMARD1) and distal hereditary motor neuronopathy type VI (dHMN6 or HMN6), is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene (600502) on chromosome 11q13. Biallelic mutations in the IGHMBP2 gene can also cause axonal Charcot-Marie-Tooth disease type 2S (CMT2S; 616155), a less severe neurologic phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960). Clinical Features Mellins et al. (1974) and Bertini et al. (1989) delineated diaphragmatic spinal muscular atrophy (SMA) as a variant of infantile SMA (SMA1; 253300). The most prominent symptoms are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown on chest x-ray and predominant involvement of the upper limbs and distal muscles.
    • Spinal Muscular Atrophy With Respiratory Distress Type 1 MedlinePlus
      Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation).
    • Spinal Muscular Atrophy With Respiratory Distress Type 1 Orphanet
      Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
  • Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To OMIM
    Their red cells lacked GSH and were severely deficient in GSH-S. No neurologic abnormalities or 5-oxoprolinuria were present. A concurrent glutathione-S-transferase (GST; see 138350) deficiency was also found in red cells. The GSH-S activity was one-half normal in the parents, but GST was normal, indicating that GSH-S deficiency is the primary defect.
    GSS, OPLAH
    • Glutathione Synthetase Deficiency MedlinePlus
      Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components. Glutathione synthetase deficiency can be classified into three types: mild, moderate, and severe. Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia).
    • Glutathione Synthetase Deficiency Wikipedia
      "Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency" . Journal of Clinical Investigation . 77 (1): 38–41. doi : 10.1172/JCI112298 .
    • Glutathione Synthetase Deficiency OMIM
      A number sign (#) is used with this entry because glutathione synthetase deficiency, or 5-oxoprolinuria, is caused by homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS; 601002) on chromosome 20q11. The same gene is mutant in hemolytic anemia due to glutathione synthetase deficiency of erythrocytes (231900). Also see 5-oxoprolinuria due to oxoprolinase deficiency (260005). Description Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). Clinical Features Jellum et al. (1970) discovered large amounts of pyroglutamic acid in the urine and plasma of a 19-year-old retarded Norwegian male.
    • Glutathione Synthetase Deficiency GARD
      Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms of the deficiency may include anemia, the buildup of too much acid in the body ( metabolic acidosis ), frequent infections, and symptoms caused by problems in the brain including seizures, intellectual disability, and loss of coordination (ataxia). Glutathione synthetase deficiency is caused by genetic changes (pathogenic variants or mutations) in the GSS gene.
    • Glutathione Synthetase Deficiency Orphanet
      A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Epidemiology This disease has been detected in at least 70 patients in more than 50 families worldwide. Etiology Several mutations have been identified in the gene encoding glutathione synthetase, localized to chromosome 20q11.2. Glutathione synthetase catalyses the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.
  • Paresis Wikipedia
    In medicine, paresis ( / p ə ˈ r iː s ɪ s , ˈ p æ r ə s ɪ s / ) is a condition typified by a weakness of voluntary movement, or by partial loss of voluntary movement or by impaired movement.
    BCHE, PLAT, ATP1A2, COL4A1, SCN1A, SLC2A1, ALAD, STAT4, KLRC4, TTR, TSC2, TSC1, TPP2, TLR4, TGFBR3, SLC1A3, SMARCB1, CFHR3, RASA1, PRNP, PDGFB, OPA1, NOTCH1, DNM1L, TREX1, PDCD10, DOCK6, TUBB2B, CYP26C1, UBAC2, EOGT, WDR62, IL23R, ANGPTL6, IRF2BPL, ARHGAP31, NF2, TBC1D24, DLL4, ADA2, ERAP1, SUFU, PNPLA8, TBK1, RHOBTB2, NID1, TRNW, FAS, IL12A, TRNV, SP110, HLA-DQB1, HLA-B, CFHR1, CFH, GNAQ, GBE1, GALC, MTOR, FGFR1, ENG, COL3A1, CCR1, CACNA1A, C4A, ATP1A3, IL10, RBPJ, KRAS, ND5, TRNS2, TRNS1, TRNQ, TRNL1, TRNK, MEFV, ND6, TRNF, ND1, CYTB, COX3, COX2, COX1, TRNC, IL12A-AS1, FAP, ENPEP, MMP9, BDNF, NOTCH3, CIMT
    • Hemiparesis Wikipedia
      S2CID 19399616 . ^ Karnath HO, Ferber S, Dichgans J (December 2000). "The neural representation of postural control in humans" . ... New York: Springer-Verlag. ^ O'Sullivan S (2007). "Ch. 12: Stroke". In O'Sullivan S, Schmitz T (eds.). ... Archived from the original on October 11, 2010. ^ Fugl-Meyer AR, Jääskö L, Leyman I, Olsson S, Steglind S (1975). "The post-stroke hemiplegic patient. 1. a method for evaluation of physical performance". ... PMID 8418551 . [ permanent dead link ] ^ Valach L, Signer S, Hartmeier A, Hofer K, Steck GC (June 2003). ... PMC 6779591 . PMID 31591703 . ^ Barreca S, Wolf SL, Fasoli S, Bohannon R (December 2003).
  • Adult-Onset Immunodeficiency Syndrome Wikipedia
    You can help by adding to it . ( September 2017 ) Society and culture [ edit ] The swash.com website uses AIDS 2.0 as the moniker for maybe another, apparently highly contagious AIDS-like condition described by The Epoch Times . [4] The Daily Beast has described this disease emphatically as not AIDS 2.0. [5] References [ edit ] ^ Browne, S. K.; Burbelo, P. D.; Chetchotisakd, P.; Suputtamongkol, Y.; Kiertiburanakul, S.; Shaw, P. ... L.; Jutivorakool, K.; Zaman, R.; Ding, L.; Hsu, A. P.; Patel, S. Y.; Olivier, K. N.; Lulitanond, V.; Mootsikapun, P.; Anunnatsiri, S.; Angkasekwinai, N.; Sathapatayavongs, B.; Hsueh, P.
    • Adult-Onset Immunodeficiency With Anti-Interferon-Gamma Autoantibodies Orphanet
      A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.
    • Adult-Onset Immunodeficiency With Anti-Interferon-Gamma Autoantibodies GARD
      Pathogens that cause infections in people with this disorder may include non-tuberculous mycobacteria , non-typhoidal salmonella , cytomegalovirus , Penicillium marneffei , and varicella zoster virus . Symptoms depend on the infection(s) present in each person. The cause of developing anti-interferon-gamma autoantibodies is unclear, but genetic factors are suspected to be involved. ... There is currently no standard therapy and treatment depends on the infection(s) present. Therapies used in the past have included long-term antimicrobial therapy (such as antibiotics or antifungals) and rituximab therapy .
  • Metastrongylosis Wikipedia
    External links [ edit ] Classification D ICD - 10 : B83.8 v t e Parasitic disease caused by helminthiases Flatworm/ platyhelminth infection Fluke/trematode ( Trematode infection ) Blood fluke Schistosoma mansoni / S. japonicum / S. mekongi / S. haematobium / S. intercalatum Schistosomiasis Trichobilharzia regenti Swimmer's itch Liver fluke Clonorchis sinensis Clonorchiasis Dicrocoelium dendriticum / D. hospes Dicrocoeliasis Fasciola hepatica / F. gigantica Fasciolosis Opisthorchis viverrini / O. felineus Opisthorchiasis Lung fluke Paragonimus westermani / P. kellicotti Paragonimiasis Intestinal fluke Fasciolopsis buski Fasciolopsiasis Metagonimus yokogawai Metagonimiasis Heterophyes heterophyes Heterophyiasis Cestoda ( Tapeworm infection ) Cyclophyllidea Echinococcus granulosus / E. multilocularis Echinococcosis Taenia saginata / T. asiatica / T. solium (pork) Taeniasis / Cysticercosis Hymenolepis nana / H. diminuta Hymenolepiasis Pseudophyllidea Diphyllobothrium latum Diphyllobothriasis Spirometra erinaceieuropaei Sparganosis Diphyllobothrium mansonoides Sparganosis Roundworm/ Nematode infection Secernentea Spiruria Camallanida Dracunculus medinensis Dracunculiasis Spirurida Filarioidea ( Filariasis ) Onchocerca volvulus Onchocerciasis Loa loa Loa loa filariasis Mansonella Mansonelliasis Dirofilaria repens D. immitis Dirofilariasis Wuchereria bancrofti / Brugia malayi / | B. timori Lymphatic filariasis Thelazioidea Gnathostoma spinigerum / G. hispidum Gnathostomiasis Thelazia Thelaziasis Spiruroidea Gongylonema Strongylida ( hookworm ) Hookworm infection Ancylostoma duodenale / A. braziliense Ancylostomiasis / Cutaneous larva migrans Necator americanus Necatoriasis Angiostrongylus cantonensis Angiostrongyliasis Metastrongylus Metastrongylosis Ascaridida Ascaris lumbricoides Ascariasis Anisakis Anisakiasis Toxocara canis / T. cati Visceral larva migrans / Toxocariasis Baylisascaris Dioctophyme renale Dioctophymosis Parascaris equorum Rhabditida Strongyloides stercoralis Strongyloidiasis Trichostrongylus spp.
  • Papuloerythroderma Of Ofuji Wikipedia
    Skin biopsies reveal a dense lymphohistiocytic infiltrate, eosinophils in the papillary dermis, and increased Langerhans cells (S-100 positive). Systemic steroids are the treatment of choice and may result in long-term remissions. [1] : 57 [2] It was characterized in 1984. [3] [4] Use of PUVA in treatment has been described. [5] See also [ edit ] Pruritus List of cutaneous conditions Erythroderma References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005). ... ISBN 978-1-4160-2999-1 . ^ Torchia D, Miteva M, Hu S, Cohen C, Romanelli P (March 2010). ... Dermatology . 220 (4): 311–320. doi : 10.1159/000301915 . PMID 20339287 . ^ Ofuji S, Furukawa F, Miyachi Y, Ohno S (1984).
    COX8A, CPOX, IFNG, IL5, PGD, PPARG, PTGDS, CCL11, COX5A, CCL26, IL36RN, HPGDS, ERVW-1, ERVK-6, ERVK-20
    • Eosinophilic Pustular Folliculitis GARD
      Eosinophilic pustular folliculitis (EPF) affects the skin causing itchy, red or skin-colored bumps and pustules (bumps containing pus). The papules mostly appear on the face, scalp, neck and trunk and may last for weeks or months. EPF affects males more than females. There are several forms of EPF. Classic eosinophilic pustular folliculitis mainly occurs in Japan. Immunosuppression-associated EPF is mainly associated with HIV infection, but has also been associated with certain cancers and medications.[16046] The infantile form of EPF is seen in infants from birth or within the first year of life. The underlying cause of EFP is unknown. All of these forms have similar skin findings.
  • Temperature Sensitivity Complementation, Cell Cycle Specific, H142 OMIM
    The ts mutant Syrian hamster cell line AF8 (116950) shows arrest in G1, 8.6 hours before the S phase; the complementing human gene is on chromosome 3. ... Arrest at nonpermissive temperatures occurs at the early S phase.
  • Cloacal Exstrophy Wikipedia
    It is associated with a defect of the ventral body wall and can be caused by inhibited mesodermal migration. [4] The defect can often be comorbid with spinal bifida and kidney abnormalities. [5] See also [ edit ] Bladder exstrophy References [ edit ] ^ Ben‐Neriah, Z., Withers, S., Thomas, M., Toi, A., Chong, K., Pai, A., Velscher, L., Vero, S., Keating, S., Taylor, G. and Chitayat, D. (2007), OEIS complex: prenatal ultrasound and autopsy findings.
    • Cloacal Exstrophy Orphanet
      A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. Epidemiology Prevalence at birth for EEC is reported at 1/10,000. Epispadias (E), classic bladder exstrophy (CEB) and EC are recognized clinical variants of the same spectrum, so accurate epidemiological data on E/EC/CEB are no longer available. The male-to-female ratio varies between studies; male or female predominance and a sex ratio close to unity have been described. Clinical description Patients present at birth with two exstrophied hemibladders separated by a foreshortened hindgut (often blind-ending resulting in an imperforate anus) or cecum. Omphalocele is found in 88-100% of patients and gastrointestinal (GI) malrotation/duplication and short bowel syndrome (see this term) are present in 46%, with absorptive dysfunction in some cases.
  • Pylephlebitis Wikipedia
    .; Visvalingam, V.; Indaram, A.; Bank, S. (2001). "Pylephlebitis--diagnosis and management". ... Kumar, V.; Abbas, A. K.; Fausto, N.; Robbins, S. L.; Cotran, R. S. (2015). Robbins and Cotran Pathologic Basis of Disease , 9th ed.; Philadelphia: Elsevier Saunders.
  • Complicated Grief Disorder Wikipedia
    PMID 12416919 . ^ DeVaul RA, Zisook S (May 1976). "Psychiatry: unresolved grief. ... Primary Care . 6 (2): 391–402. PMID 258819 . ^ Zisook S, Shuchter S, Schuckit M (June 1985). ... PMID 6823793 . ^ a b c d e f Shear MK, Simon N, Wall M, Zisook S, Neimeyer R, Duan N, et al. (February 2011). ... Presentation World Congress of Behavioral and Cognitive Therapies, Boston, MA; 2010. ^ Nakajima S, Shirai A, Maki S, et al. Mental health of the families of crime victims and factors related to their recovery. ... Further reading [ edit ] Tafà M, Cerniglia L, Cimino S, Ballarotto G, Marzilli E, Tambelli R (2018).
  • Arterial Stiffness Wikipedia
    PMID 16461838 . ^ Willum-Hansen T, Staessen JA, Torp-Pedersen C, Rasmussen S, Thijs L, Ibsen H, Jeppesen J (February 2006). ... S2CID 23321317 . ^ Fernandez-Fresnedo, G.; Rodrigo, E.; de Francisco, A. L. M.; de Castro, S. S.; Castaneda, O.; Arias, M. (2006). ... ISSN 1046-6673 . PMID 17130269 . ^ Cheng, S.; Vasan, R. S. (2011). "Advances in the Epidemiology of Heart Failure and Left Ventricular Remodeling" . ... PMC 3621875 . PMID 22083151 . ^ Whelton, S. P.; Blankstein, R.; Al-Mallah, M. ... A.; Hundley, W. G.; Polak, J. F.; Blumenthal, R. S.; Nasir, K.; Blaha, M. J. (2013).
    COL4A1
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