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Mood Disorder
Wikipedia
"Melancholia: A Historical Review" . Journal of Mental Science . 80 (328): 1–42. doi : 10.1192/bjp.80.328.1 . ... Archives of General Psychiatry . 41 (1): 72–80. doi : 10.1001/archpsyc.1984.01790120076010 . ... Psychosomatics . 38 (2): 160–1. doi : 10.1016/S0033-3182(97)71493-2 . PMID 9063050 . Archived from the original (PDF) on 25 June 2008 . ... The Journal of Clinical Psychiatry . 59 (Suppl 6): 74–82. PMID 9674940 . ^ Cipriani, A (2013). ... Serendip. 2006. Web. < https://serendipstudio.org/bb/neuro/neuro06/web2/lpaterek.html >. ^ Kaufman, JC (2001).SLC6A4, NR3C1, POLG, ADCY8, DRD2, NCAM1, CREB1, COMT, BDNF, HTR2A, CRH, CLOCK, DISC1, MAOA, TH, HTR1A, FKBP5, P2RX7, DRD4, TPH1, CACNA1C, TPH2, WFS1, NPY, GSK3B, TNF, TAC1, CRHR1, HTR2C, NTRK2, GPR50, ESR1, OPRK1, PRL, DBH, ABO, HP, GABRA1, SLC6A3, SIRT2, MTHFR, DLG4, GRIN2A, DTNBP1, PDYN, AKT1, DRD3, PROKR2, MCHR1, HTR5A, AVPR1B, GNB3, ZNF804A, FGF2, DAOA, S100B, RELN, MAOB, FMR1, GAL, HCRTR1, NTF3, DLG3, IMPA2, GRM3, GRM2, GAD1, GRIK2, MAP2, GAD2, PROK2, HTR3A, FAAH, IL1RN, DISC2, HTR6, CYP2D6, TACR1, SLC6A2, ARNTL, SMS, CRHBP, PLA2G1B, TIMELESS, SERPINA1, ATP2A2, CRHR2, AR, GABRB2, GABRA6, GABRA5, CRTC1, SLC12A5, MAGEL2, SIGMAR1, RARA, VPS13A, ADRA2A, VIP, GABRD, SIRT1, VGF, SAT1, FEV, ANK3, HTR4, SLC1A2, TSNAX, VEGFA, TSNAX-DISC1, SLC5A7, HES6, GPRC5D, HPGDS, ADRB1, GCH1, ARRB2, TSPAN8, IL9R, SPR, FZD3, HCN4, CRYZ, TBX1, NTSR1, DAO, HIF1A, TGFB1, NTRK3, TGOLN2, NQO1, PAWR, NPY2R, HSPA4, DNMT1, DNMT3B, EDN1, PNOC, HTR1B, ADORA2A, ADCY7, MYO5B, PFKL, SST, RNPS1, CHRM2, CHRM3, ABCG1, FTO, SSTR3, SERTAD1, HSP90AA1, OXT, HTR7, NFKB1, TBC1D25, NTS, HDAC4, RGS6, TNFSF13B, PFKFB3, ERDA1, BSCL2, KAT2B, PMCH, PPARG, PRNP, LDHA, S100A10, KCNK9, PTGS2, HDAC2, SMOX, GAP43, FOSB, DUSP6, GLUL, DCTN1, CACNA1D, AMBP, HDAC1, ADRA2C, ADRA1B, ADCY3, HTT, KCTD12, HCN1, LINC02210-CRHR1, ERBB4, PDE4B, NEGR1, DCLK2, LINC01618, CDH8, MAD1L1, DPY19L3, PHF2, AREL1, EGFLAM, KLHL29, PAFAH1B1, CSE1L, RABGAP1L, SPSB4, NR1H3, CSTF3, NAV3, DAG1, BAIAP2, DGKG, KLHDC8B, WNT3, SSPN, SLC44A5, TCF4, LINC02040, GNG12-AS1, NCAM1-AS1, C6orf99, APBB2, UBA7, MAPT-AS1, RERE, LINC00461, SMIM4, RAPSN, RAB27B, C5orf17, PTPRD, PTH2R, VWC2L, VRK2, LINC01122, FAM228B, EYS, KANSL1, MYO1H, DCC, CREB3L1, ATAD2B, MAPT, EXD2, C11orf49, TNC, SOX6, PPP4R3A, NCOA5, ARHGAP15, YLPM1, CELF4, SORCS3, ZHX3, LMOD1, FSTL4, PLCL2, DPP10, KAZN, BBX, CAMTA1, NUP160, GPM6A, PBRM1, FYB1, TTC12, DDB2, LINGO1, ATP5MD, DELEC1, ARPP21, ARFGAP2, BICRA, KIAA1109, PRR16, NLK, TFAP2D, EMCN, CSNK1G1, IGLV10-54, BHLHE41, TMEM106B, ADAMTS6, BAZ1A, RBFOX1, GABBR1, PON1, ACE, IL6, PER3, CRP, IL1B, IGFBP2, LOC110806262, STIN2-VNTR, EPO, IL10, REM1, NR3C2, APOE, C1QL1, KL, TMED2, TPO, TPPP, P2RX5-TAX1BP3, TEMPS, BICC1, PPP1R9B, OPN4, CHP1, NLRP3, MAFD6, YWHAZ, NRSN1, HOMER1, MAFD4, PLB1, P2RX6, DGKH, P2RX2, FXR1, SMC2, H3P19, P2RX3, DST, PIK3CD, PIK3CB, PIK3CA, CD9, CNR1, P2RY2, P2RY1, P2RX5, P2RX4, CRY2, P2RX1, CTNNB1, DNASE1L3, DRD1, NOS1, MAFD2, MAFD1, FKBP4, GLP1R, GPER1, GRIK4, GRIN2B, HCRT, PIK3CG, GRM7, AVP, ADARB1, PVALB, MIR18A, EIF4EBP1, GABPA, FTL, FOS, FOXO3, ADCY9, PINK1, UBE2Z, FGF9, DMTN, MAPKAP1, LIN28A, SLC17A6, ADRA1A, ADRA2B, AGMAT, CAMKMT, RABEP2, EGF, PPP1R2C, PNPLA3, ZNF34, ADRB2, EDNRA, NDRG2, GABRA3, ACKR3, GLI2, LINC02605, GRM5, ACTB, GRIA3, GRIA1, PPP1R12C, GPR42, RN7SL263P, ADCY1, GLO1, GHSR, AP2B1, PLXNA3, GFAP, ATF7IP, CNDP2, GDNF, USE1, LMO3, GPRC5C, GCHFR, GCG, TMPRSS13, DPYD, PPP1R1B, CECR, CD44, KRIT1, CCKAR, CCK, CRTC2, CAT, OPN1SW, MDD1, MIR17HG, C9orf72, CALR, CALM3, IS1, CALM2, DAOA-AS1, CALM1, CALCA, TAAR6, NANOS3, MCIDAS, TSPO, BRS3, BRCA1, CDSN, OSR1, BPI, CHGB, APLNR, DMD, DLX4, DDC, SHANK3, RGS8, LMLN, CYP19A1, WASHC1, CSNK1E, ANGPT1, CSF2, PDIA3, CAMK2N2, SLC25A4, APOH, STS, CRY1, WASH6P, CREBBP, CP, ATP5F1A, BDNF-AS, SYN2, VSX1, GSTM1, ORM1, PLCB4, PLA2G4A, ST8SIA2, PITX2, ELP1, CCN6, PIK3R2, APLN, PIK3R1, ARHGEF7, CBFA2T2, LPAR2, HTR3B, ABCB1, ADIPOQ, ABCG2, EIF2AK3, PGM1, GDF15, NR1D1, PGD, PAX6, SEC24C, HDAC9, KEAP1, CCS, HDAC6, FOSL1, RASSF7, POU3F1, SLC18A2, SULT2A1, STAR, SSTR5, TDGF1P3, TFRC, SSTR4, SSB, THBS3, SOD2, TM7SF2, SOD1, SOAT1, TRPM2, PTPA, SEMG1, TTN, TYR, CCL11, CCL2, S100A12, VIPR2, PTGS1, VTN, PSMB6, PRKCZ, YY1, TOM1, TUBA1B, GSTT1, RAPGEF3, INSRR, PPP1R13B, IL7, SIRT3, IL4, IL2, IGHG1, ATP2C1, AGO2, IFNG, IFNA13, PCDH17, IFNA1, PCLO, DLL1, HTR1F, IGLV3-25, HSD11B2, SETD2, HRAS, HPX, SLC40A1, VAMP7, HPD, HLA-C, CRYL1, HINT1, ITGA2B, ITIH1, PLCB1, NGF, NUP98, DEAF1, NTRK1, PDLIM5, NRAS, CXCR6, NPAS2, NRG3, NOTCH4, NOS3, PPARGC1A, UTS2, METAP2, ITIH3, RAPGEF4, NFE2L2, MST1, MSMB, MAS1, LTBP3, IGSF9B, LEP, LBP, TBC1D9, STAB1, LAMC2, ABAT
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Vici Syndrome
Wikipedia
These include [ citation needed ] Agenesis of the corpus callosum (80–99% patients) Hypopigmentation of the eyes and hair (80–99% patients) Cardiomyopathy (80–99% patients) Combined immunodeficiency (80–99% patients) Muscular hypotonia (80–99% patients) Abnormality of retinal pigmentation (80–99% patients) Recurrent chest infections (80–99% patients) Abnormal EEG (80–99% patients) Intellectual disability (80–99% patients) Cataracts (75%) Seizures (65%) Renal abnormalities (15%) Infections of the gastrointestinal and urinary tracts are common. ... DNA Res 7(4): 273-281. ^ Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F et al. (2013) Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature genetics 45(1): 83-87 ^ Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S (2017) Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep 7(1):3552. doi: 10.1038/s41598-017-02840-8 ^ del Campo M, Hall BD, Aeby A, et al. (1999). "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". ... PMID 10405446 . ^ del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A et al. (1999) "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance". ... Am J Med Genet A 152A(3): 741-747. ^ Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F et al. (2013) "Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy". Nature genetics 45(1): 83-87. ^ J Pediatr Ophthalmol Strabismus . 2014 July 1;51(4):214–20 External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 242840 MeSH : C535566 External resources Orphanet : 1493 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Peripartum Cardiomyopathy
Wikipedia
PMID 15496265 . ^ Ansari AA, Fett JD, Carraway RE, Mayne AE, Onlamoon N, Sundstrom JB (December 2002). ... "Unrecognized peripartum cardiomyopathy in Haitian women". Int J Gynaecol Obstet . 90 (2): 161–6. doi : 10.1016/j.ijgo.2005.05.004 . ... Cardiovasc Surg . 7 (5): 565–7. doi : 10.1016/S0967-2109(99)00014-9 . PMID 10499901 . ^ Hilfiker-Kleiner, D.; Haghikia, A.; Nonhoff, J.; Bauersachs, J. (2015-05-02). ... Gynecol . 176 (1 Pt 1): 189–95. doi : 10.1016/S0002-9378(97)80034-8 . PMID 9024112 . ^ Dorbala S, Brozena S, Zeb S, et al. ... "Frequency of peripartum cardiomyopathy". Am. J. Cardiol . 97 (12): 1765–8. doi : 10.1016/j.amjcard.2006.01.039 .
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Maple Syrup Urine Disease
Orphanet
Etiology MSUD is due to mutations in the genes encoding subunits E1a, E1b, and E2 of the branched chain 2-ketoacid dehydrogenase (BCKAD) complex, involved in the second enzymatic step in the degradation of the branched chain amino acids (BCAAs): leucine, isoleucine and valine. BCKAD has four subunits: E1a, E1b, E2, and E3, which are encoded by the genes BCKDHA (19q13.1-q13.2), BCKDHB (6q14.1), DBT (1p31) and DLD (7q31-q32) respectively. Mutations in these genes lead to the accumulation of BCAAs (especially leucine) and their branched-chain alpha-ketoacids. Mutations in the E3 subunit gene ( DLD ) are not associated with MSUD but lead to pyruvate dehydrogenase E3 deficiency (see this term).
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Paralexia
Wikipedia
"Thalamic semantic paralexia" . Neurol Int . 4 (1): e6. doi : 10.4081/ni.2012.e6 . PMC 3349961 .
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Calcific Tendinitis
Wikipedia
Aspiration can be implemented [7] to decrease the amount of calcium deposits in the tissue, as well as to reduce the pain and improve function. [8] Usually it improves without specific treatment. [9] Treatments of calcific tendinitis may include physiotherapy , nonsteroidal anti-inflammatory drugs (NSAIDs), or corticosteroid injections. [9] If these do not work, extracorporeal shockwave therapy or surgery may be considered. [9] Research has found conservative treatment consisting of Physical Therapy, NSAIDS, and steroid injections to be successful in managing 60-80% of cases, such that symptoms did not continue after 6 months. ... For both short term and long term management, US-PICT has been shown to be 90% successful one year post treatment, and has shown to reduce pain by around 55%. ... Surgery is arthroscopic and involves calcification removal with or without acromioplasty of the shoulder. [14] Additionally, debate remains over whether a complete removal of the deposits is necessary, or if equal pain relief can be obtained from a partial removal of calcium deposits. [5] Removing the deposits either with open shoulder surgery or arthroscopic surgery are both difficult operations, but with high success rates (around 90%). About 10% require re-operation. ... Archives of Physical Medicine and Rehabilitation . 98 (8): 1678–1692.e6. doi : 10.1016/j.apmr.2017.02.030 . ... Archives of Physical Medicine and Rehabilitation . 98 (8): 1678–1692.e6. doi : 10.1016/j.apmr.2017.02.030 .
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Postoperative Residual Curarization
Wikipedia
"Neuromuscular monitoring and postoperative residual curarisation: a meta-analysis" . Br J Anaesth . 98 (3): 302–316. doi : 10.1093/bja/ael386 . ... New England Journal of Medicine . 378 (4): e6. doi : 10.1056/nejmvcm1603741 . ISSN 0028-4793 . ... "Advances in Neurobiology of the Neuromuscular Junction: Implications for the Anesthesiologist". Anesthesiology . 96 (1): 202–231. doi : 10.1097/00000542-200201000-00035 . ... "Efficacy of Tactile-guided Reversal from Cisatracurium-induced Neuromuscular Block". Anesthesiology . 96 (1): 45–50. doi : 10.1097/00000542-200201000-00013 . ... "Antagonism of Cisatracurium and Rocuronium Block at a Tactile Train-of-Four Count of 2: Should Quantitative Assessment of Neuromuscular Function Be Mandatory?". Anesthesia & Analgesia . 98 (1): 102–106. doi : 10.1213/01.ane.0000094985.19305.e9 .
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T Cell/histiocyte-Rich Large B-Cell Lymphoma
Wikipedia
"Regulatory Roles of MAPK Phosphatases in Cancer" . Immune Network . 16 (2): 85–98. doi : 10.4110/in.2016.16.2.85 . PMC 4853501 . ... "SOCS1 in cancer: An oncogene and a tumor suppressor". Cytokine . 82 : 87–94. doi : 10.1016/j.cyto.2016.01.005 . ... "Diffuse large B-cell lymphoma: 2019 update on diagnosis, risk stratification, and treatment" . American Journal of Hematology . 94 (5): 604–616. doi : 10.1002/ajh.25460 . ... PMID 29988902 . ^ a b c Silva RNF, Mendonça EF, Batista AC, Alencar RCG, Mesquita RA, Costa NL (December 2019). ... PMID 28706431 . ^ Barut F, Kandemir NO, Gun BD, Ozdamar SO (July 2016). "T-cell/histiocyte-rich large B-cell lymphoma of stomach".
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Mitochondrial Complex I Deficiency, Nuclear Type 32
Omim
INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive CARDIOVASCULAR Heart - Cardiac hypertrophy (1 of 2 patients) RESPIRATORY - Respiratory insufficiency MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed or absent psychomotor development - Poor interaction with environment - Seizures - White matter abnormalities consistent with Leigh syndrome seen on brain imaging - Supratentorial and brainstem atrophy METABOLIC FEATURES - Metabolic acidosis LABORATORY ABNORMALITIES - Increased serum lactate - Increased CSF lactate - Mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset in infancy - Early death may occur - Two unrelated patients have been reported (last curated January 2019) MOLECULAR BASIS - Caused by mutation in the NADH-ubiquinone oxidoreductase subunit B8 gene (NDUFB8, 602140.0001 ) ▲ Close
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Pyruvate Dehydrogenase Deficiency
Orphanet
Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms). ... Mutations in the genes for the other subunits have been described, but are far less frequent: E1-beta and E2 subunits ( PDHB , DLAT ); E3 binding protein ( PDHX gene); and E3 and PDH phosphatase ( DLD and PDP1 ).
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Behçet Disease
Orphanet
Vasculitis in BD is more frequent in the venous system where thromboses in femoro-iliac, superior and inferior vena cava and cerebral territories may occur. ... HLAB5101 antigen is associated to BD in 50-60% of patients. NF-kB activation and aberrant cytokine levels (eg- IL-6, TNF-a, IL-8, IL-12, IL-17 and IL-21) have been implicated in the pathogenesis of BD. A familial, autosomal dominant form of BD, A20 haploinsufficiency, is linked to mutations in TNFAIP3 (6q23.3). ... A family history of BD also increases the probability of diagnosis. ... Apremilast has been recently approved in refractory oral ulceration of BD. Efficacy is dependent upon rapid initiation and patient compliance.ERAP1, IL10, HLA-B, STAT4, KLRC4, CCR1, MEFV, IL12A-AS1, IL23R, PSORS1C1, CXCL8, TLR4, ICAM1, UBAC2, FAS, IL12A, ITGB2, ITGAL, AHR, SERPINE1, C4A, APOA1, APOB, CAT, MICA, NOD2, TNFRSF1A, PSTPIP1, CCR3, MICB, KLRC4-KLRK1, ADA2, CCHCR1, CDSN, HLA-DRB9, TFCP2L1, HLA-C, NOS3, IL1A, F5, TNF, HLA-A, IL12RB2, IL17A, IL6, WWC1, IFNG, IL19, F2, IL1B, TNFAIP3, IL2, CTLA4, MTHFR, CCR5, KIR3DL1, TLR2, CCL2, IL23A, HLA-DRB1, VEGFA, IL18, VDR, IL37, GEM, MMP9, IL4, ACE, CRP, IL12B, IL1RN, HSPD1, IL33, STAT3, NLRP3, MIR146A, CD40, LEP, PTPN22, JAK1, MBL2, ENO1, BCL2, KIR3DL2, SUMO4, NFKB1, MIR155, IL9, ITGAX, HSPA14, GATA3, KIDINS220, IRF8, CXCR2, GSTM1, HLA-G, KIR2DS1, HLA-DQA1, TLR7, ABCB1, IL17F, FCGR3A, LTA, CD28, QPCT, UBASH3B, CSF2, ATG5, ADIPOQ, SELL, SLC11A1, SOCS1, SOAT1, USO1, TAP2, IKBKG, TAP1, PIEZO1, TG, TGFB1, TGFBR1, TGFBR3, THBD, TNFRSF1B, TNFSF4, PTPN2, KIR3DS1, NOD1, MVK, LAMP1, JAK2, MIF, MKI67, SEC14L2, ITGAM, IL1R1, IL22, CXCL10, CPQ, NFKBIA, IL15RA, IL15, NM, NOS2, TBC1D9, KRAS, NXF1, MPO, NAT2, IFNA13, GSTT1, MIB1, GAS6, ERAP2, FLNB, FCN2, ETS1, TSLP, CYP2C9, CYP2C19, TIRAP, FCRL3, CPB2, RBM45, IFNA2, CEBPB, MIR21, CCDC180, ANXA2, ANXA1, CXCR3, CCR7, IFNA1, IL26, HLA-DPB1, CPVL, HNRNPA2B1, HLA-E, TLR9, LINC01193, TNFSF12, CDK5R1, PROZ, IL32, GADL1, TIMELESS, SOCS3, ARMH1, CTDP1, SCAF11, ARHGEF2, XPR1, MBL3P, CD83, ENHO, SLC9A3R2, YIPF7, PPIG, IFNL2, AIM2, DAOA, ROCK2, GAL3ST1, CCL4L2, NAALADL2, IL27, ZEB2, WDR1, LRPPRC, TNFSF13, TP63, CCL4L1, IL17D, HNRNPA1P10, WNT3, VWF, POTEF, DEFB4B, CNTN5, LINC-ROR, LANCL1, VTN, VIP, VEGFB, UPK3B, CST12P, H3P13, YWHAE, DEFA1A3, MIR146B, DEFB104B, WG, ARHGEF5, TAM, MIR326, PLA2G6, TNFSF12-TNFSF13, MIR301A, MIR23A, TLR8, GEMIN2, MIR185, PIAS1, MIR182, RABEPK, HT, TNIP1, CD274, PANX1, ATG10, NDEL1, POU2F3, PDCD1LG2, HAVCR1, RNF39, ARMC9, DISC1, IL17B, PDCD4, PYCARD, NEIL1, VKORC1, FOXP3, CASP14, PADI1, PDIA2, CLEC7A, TET2, CASZ1, PRPF40A, BACH2, NCOA5, TBX21, SEMA6A, TRIM39, AICDA, CD209, IL20, KIAA1109, TUBA1C, ASXL1, KLRK1, RETN, ANP32B, PROCR, SLC35A1, CXCL13, TNFSF13B, DEFB104A, TRAF3IP2, CPLX1, UTS2, PRSS21, TYMS, EBNA1BP2, NLRP1, CYCS, HAVCR2, KIR3DL3, TNFRSF13C, CLEC16A, TREM1, KRT20, CDCA5, DICER1, INTS4, SIRT1, IRAK4, SF3B1, ZNF804A, PADI4, ADO, VCAM1, PSMD7, TYK2, ELANE, FLNA, FOXO1, FCGR3B, FCGR2A, F10, F9, ETFB, ESR1, EREG, EGF, FUT2, DHCR7, DEFB4A, DEFB1, DEFA1, CYP27B1, CYP24A1, CYP2B6, CYP1A1, CX3CR1, FSHMD1A, GATM, TXK, HLA-DQB1, IL2RA, IFI16, HTR2C, HSPA6, HSPA4, HNRNPA1, HMOX1, HMGB1, HLA-F, NRG1, GCHFR, HFE, HBB, H2AX, GZMB, CXCL1, GRIA2, GP2, GLI3, GLB1, CTSG, CCN2, CSF3, FASLG, C3AR1, BTK, BLK, AVP, ATP4A, ATP12A, ATF3, ARSA, AREG, APOH, CSF1, APOE, ANXA5, AMH, ALB, AKT1, AIF1, ADARB1, ADA, ACTB, C4BPA, C4BPB, CA4, CALR, CR2, CORT, CCR6, CCR4, CISH, CEBPD, CDKN2D, CDKN2A, CD69, CD40LG, MS4A1, CD14, RUNX1, CASP9, CASP8, CASP3, CASP1, CAPS, CAMP, IL2RB, IL4R, IL6ST, SAG, CXCL5, CXCL6, CCL20, CCL13, CCL11, CCL5, CCL4, CCL3, SAT1, SAA1, EIF2AK2, RORC, ROCK1, REG1A, REL, ACLY, PSMB8, PRTN3, PROS1, PROC, CX3CL1, SELE, SELPLG, SLC6A4, HSP90B2P, TRAF5, TPI1, TP53, TLR1, TIMP2, TGM2, TEP1, TRG, TRD, TRBV20OR9-2, TRIM21, SPP1, SPG7, SOD2, SOD1, SLC22A5, SLC22A4, SLC25A1, PRL, MAPK3, CXCR1, KLRD1, MAFD2, LYZ, LIMK2, LIG4, LGALS3, LBR, STMN1, RPSA, LAMC2, KLRC2, MAPK1, KLRC1, KIR2DL4, ITGB3, ITGA2, IRF5, IRF1, IRAK1, IL12RB1, IL11, MCAM, CIITA, MMP2, MMP12, PRKCQ, PON1, POMC, PLA2G2A, PLA2G1B, SERPINA1, PF4, PDGFRL, PDCD1, PAPPA, PAFAH1B1, P4HB, ORM2, NTRK1, NGF, NEFM, NDUFB2, MRC1, MNAT1, H3P28
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Breast Hematoma
Wikipedia
Breast Disease (review). 34 (1): 25–8. doi : 10.3233/BD-130344 . PMID 23507668 . ^ Michael S. ... Breast Ultrasound: A Systematic Approach to Technique and Image Interpretation . Thieme. p. 98. ISBN 978-3-13-111531-7 . ^ Ulrich Brinck (January 2004). Practical MR Mammography . Thieme. p. 99. ISBN 978-3-13-132031-5 . ^ W. G. Cance (1 January 2001). Breast Surgery . IOS Press. p. 96. ISBN 978-1-58603-159-6 . External links [ edit ] Classification D ICD - 10 : N64.8 ICD - 9-CM : 611.89 v t e Breast disease Inflammation Mastitis Nonpuerperal mastitis Subareolar abscess Granulomatous mastitis Physiological changes and conditions Benign mammary dysplasia Duct ectasia of breast Chronic cystic mastitis Mammoplasia Gynecomastia Adipomastia (lipomastia, pseudogynecomastia) Breast hypertrophy Breast atrophy Micromastia Amastia Anisomastia Breast engorgement Nipple Nipple discharge Galactorrhea Inverted nipple Cracked nipples Nipple pigmentation Masses Galactocele Breast cyst Breast hematoma Breast lump Pseudoangiomatous stromal hyperplasia Other Pain Tension Ptosis Fat necrosis Amazia
- Cystic Tumour Of The Atrioventricular Nodal Region Wikipedia
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Major Histocompatibility Complex, Class I, B
Omim
Mapping Cann et al. (1983) found a restriction fragment that segregated with HLA-B8. Either the fragment carried the B8 specificity or represented another class I gene (or pseudogene) in linkage disequilibrium with HLA-B8. ... Martin et al. (2002) reported that the activating KIR allele KIR3DS1 (604946), in combination with HLA-B alleles that encode molecules with isoleucine at position 80 (HLA-B Bw4-80Ile), is associated with delayed progression to AIDS in individuals infected with HIV-1 (604946.0001). ... Specific amino acids in the HLA-B peptide binding groove, at positions 62, 63, 67, 70, and 97, as well as an independent HLA-C effect, explained the SNP associations and reconciled both protective and risk HLA alleles. ... Association with class I HLA alleles and infectious disease have been demonstrated mainly with HLA-B: B8 with susceptibility to pulmonary tuberculosis, B35 with susceptibility to AIDS, B53 with resistance to severe malaria, and B57 with resistance to AIDS (see Table 3 of Cooke and Hill, 2001).
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Angelman Syndrome
Wikipedia
Molecular Interventions . 2 (6): 376–91, 339. doi : 10.1124/mi.2.6.376 . PMID 14993414 . ^ Wang, Yiyang, et al. (2017). ... "Prader–Willi and Angelman syndromes: sister imprinted disorders". Am J Med Genet . 97 (2): 136–146. doi : 10.1002/1096-8628(200022)97:2<136::aid-ajmg5>3.0.co;2-v . ... PMID 16574761 . ^ a b c Williams C (2005) "Neurological aspects of the Angelman syndrome" Brain & Development 27: 88–94 ^ Laan, Laura A.E.M.; Vein, Alla A. (2005). "Angelman syndrome: is there a characteristic EEG?". Brain and Development . 27 (2): 80–87. doi : 10.1016/j.braindev.2003.09.013 . ... Neurol . 14 (2): 131–6. doi : 10.1016/0887-8994(96)00011-2 . PMID 8703225 . ^ Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K (1995).UBE3A, CDKL5, MECP2, GABRB3, SNRPN, SNHG14, SYNGAP1, SLC6A1, PRKN, MUL1, ASXL3, CBLL2, KCNQ3, UBE2K, SNURF, OCA2, MKRN3, SLC9A6, PRNP, GABRG3, TCF4, HERC2, SNORD116@, HDAC1, RNF2, PVALB, ATP10A, UROD, STOML3, GABRA5, DYRK1A, MC1R, NIPA1, HTC2, BDNF, CYFIP1, H3P12, COPS2, ATP8A1, ZNF197, HDAC9, EEF1E1, MIR708, LMLN, NPAP1, DDI1, ATRAID, DYM, EPHA6, LAMTOR1, CYP26B1, SLC5A7, HAP1, DERL1, ASPM, NIPA2, TPPP2, TMPRSS13, TUBGCP5, NPAS3, ACTB, HERC1, MEF2C, CAMK2A, CDKN2C, CFL1, CREBBP, CYP11A1, DBI, DNAH8, EP300, ERBB4, ESR1, FOXG1, FMR1, HDAC2, HTR1A, MSMB, CASK, MST1, MTHFR, NDN, NNAT, NR4A2, PAFAH1B1, PSMD4, SCG5, SLC6A3, APP, TOP1, TP53, UBE2I, MAFK, TJP1
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Mayaro Virus Disease
Wikipedia
The structural polyprotein is cleaved into six chains: capsid protein (C), p62, E3 protein or spike glycoprotein E3, E2 envelope glycoprotein or spike glycoprotein E2, 6K protein, and E1 envelope glycoprotein known also as spike glycoprotein E1. [7] [8] The envelope lipid component is critical for virus particle stability and infectivity in mammalian cells [9] Once the virus enters into the host cell, the genomic RNA is released into the cytoplasm, where the two ORFs are translated into proteins and the synthesis of negative-stranded RNA starts. ... The amplicon used for phylogenetic analysis includes E1 and E2 glycoprotein genes and the 3' NCR. ... PMID 21923266 . ^ Snyder AJ, Mukhopadhyay S (2012). "The alphavirus E3 glycoprotein functions in a clade-specific manner" . Journal of Virology . 86 (24): 13609–20. doi : 10.1128/JVI.01805-12 . PMC 3503070 . PMID 23035234 . ^ Firth AE, Chung BY, Fleeton MN, Atkins JF (2008).
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Mpv17-Related Mitochondrial Dna Maintenance Defect
Gene_reviews
Molecular Genetic Testing Used in MPV17 -Related mtDNA Maintenance Defect View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 Detectable by Method MPV17 Sequence analysis 3 94/98 (96%) 4, 5 Gene-targeted deletion/duplication analysis 6 4/98 (4%) 4 1. ... MPV17 -related mtDNA maintenance defect, encephalohepatopathy form is typically an early-onset disease that presents during the neonatal period (36 out of 96; 38%) or infancy (56 out of 96; 58%). ... Clinical Manifestations of MPV17 -Related Encephalohepatopathy View in own window Clinical Manifestations Frequency Hepatic Liver dysfunction 1 96/96 (100%) Liver failure 2 87/96 (91%) Cholestasis 70/96 (73%) Hepatomegaly 60/96 (63%) Steatosis 49/96 (51%) Liver cirrhosis 20/96 (21%) Hepatocellular cancer 3 3/96 (3%) Neurologic 4 Developmental delay 5 75/91 (82%) Hypotonia 67/91 (74%) Microcephaly 21/91 (23%) Peripheral neuropathy 6 17/91 (19%) Seizures 9/91 (10%) Dystonia 4/91 (4%) Ataxia 3/91 (3%) Abnormalities on brain MRI White matter 7 27/71 (38%) Brain stem signal 6/71 (8%) Basal ganglia signal 6/71 (8%) Gastrointestinal Failure to thrive 8 82/91 (90%) Gastrointestinal dysmotility 9 30/91 (33%) Feeding difficulties 28/91 (31%) Metabolic Lactic acidosis 10 72/91 (79%) Hypoglycemia 11 55/91 (60%) Other Renal tubulopathy 9/91 (10%) Nephrocalcinosis 7/91 (8%) Hypoparathyroidism 4/91 (4%) Retinopathy 7/91 (8%) Nystagmus 6/91 (7%) Corneal anesthesia & ulcers 4/91 (4%) 1. ... Outcome of Children with MPV17 -Related Encephalohepatopathy View in own window Liver Transplant? Outcome Frequency Yes (17/96; 18%) Death 1 10/17 (59%) Survival 7/17 (41%) No (79/96; 82%) Death from liver failure 2 65/79 (82%) Survival 3 14/79 (18%) 1. ... The majority died during infancy (52/65; 80%); some died during early childhood (1-5 years) (10/65; 15%), adolescence (2/65; 3%), or early adulthood (1/65; 2%). 3.
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Biotinidase Deficiency
Orphanet
Epidemiology Prevalence of clinical biotinidase deficiency (BD) is estimated to be 1/61,000. Carrier frequency in the general population is approximately 1/120. Clinical description Symptoms of BD deficiency typically appear within the first few months of life, but later onset has also been reported. ... Individuals with untreated partial BD (10% to 30% of mean normal biotinidase activity) may be asymptomatic, but during periods of stress, such as illness, fever or fasting, may develop symptoms similar to those of individuals with profound BD. ... There are more than 150 known mutations of the BTD gene that cause BD. Diagnostic methods The disorder is detected through newborn screening when available. ... Prognosis The prognosis for individuals diagnosed with BD is very good, provided they are treated before symptoms occur and are compliant with biotin therapy.
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Complement Component 4b Deficiency
Omim
Associated characteristics indicated a defect in synthesis of C4 and a genetic basis thereof was indicated by the fact that C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B locus compared with 59% in controls. ... They confirmed the earlier findings of high frequencies of C4-null phenotypes and of HLA-B8,DR3 antigens. In addition, they found that among the patients most of both the C4A (120810)- and C4B-null phenotypes resulted from gene deletions.
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Oncovirus
Wikipedia
Caister Academic Press . ISBN 978-1-904455-99-8 . ^ a b Poulin DL, DeCaprio JA (September 2006). ... PMID 16963733 . ^ Wiest T, Schwarz E, Enders C, Flechtenmacher C, Bosch FX (February 2002). "Involvement of intact HPV16 E6/E7 gene expression in head and neck cancers with unaltered p53 status and perturbed pRb cell cycle control" . ... New Science Press. ISBN 978-1-904455-99-8 . ^ a b c Levine AJ (February 2009). ... PMID 19150725 . ^ Scheffner M, Huibregtse JM, Vierstra RD, Howley PM (November 1993). "The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53". ... Lancet . 335 (8682): 123–8. doi : 10.1016/0140-6736(90)90001-L . PMID 1967430 . ^ Antman K, Chang Y (April 2000).