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Long Covid
Wikipedia
"Immune determinants of COVID-19 disease presentation and severity" . Nature Medicine . 27 (1): 28–33. doi : 10.1038/s41591-020-01202-8 . ... "Long Covid alarm as 21% report symptoms after five weeks" . The Guardian . Retrieved 28 December 2020 . ^ a b c Herman, Joanna (27 December 2020). ... NICE . 18 December 2020 . Retrieved 28 December 2020 . ^ Blazonis, Sarah (27 November 2020). ... Retrieved 18 October 2020 . Alwan NA (28 July 2020). "What exactly is mild covid-19?" ... Retrieved 18 October 2020 . Triggle N (28 September 2020). "Covid: Is it time we learned to live with the virus?"
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Familial Hemiplegic Migraine
Wikipedia
Summary of mutations in ATP1A2 found in patients diagnosed with FHM type 2 Mutation Location Physiological result Reference(s) E174K M2-3 No change [27] T263M M2-3 [28] G301R M3 [29] T345A M4-5 Decreased K influx [30] [31] T376M M4-5 [28] R383H M4-5 [32] T378N M4-5 [33] C515Y M4-5 Loss of function (haploinsufficiency) [27] R548H M4-5 [34] R593W M4-5 Loss of function (haploinsufficiency) [35] A606T M4-5 [28] G615R M4-5 Loss of function (haploinsufficiency) [36] V628M M4-5 Loss of function (haploinsufficiency) [35] R689Q M4-5 Decreased catalytic turnover [31] [37] [38] E700K M4-5 [39] D718N M4-5 Loss of function (haploinsufficiency) [32] M731T M4-5 Decreased catalytic turnover [31] [37] [38] R763H M4-5 Loss of function (haploinsufficiency) [32] L764P M4-5 Loss of function (haploinsufficiency) [31] [40] [41] P796R M5-6 [32] M829R M6-7 [28] R834Q M6-7 [28] W887R M7-8 Loss of function (haploinsufficiency) [27] [31] [40] [41] E902K M7-8 [32] 935K_940SdelinsI M8-9 [28] R937P M8-9 [28] S966LfsX998 M9 [28] P979L M9-10 [32] X1021RextX28 C-Terminus [32] Numbering according to the NCBI reference sequence NM_000702.2 .
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Developmental Coordination Disorder
Wikipedia
Associated disorders and secondary consequences [ edit ] People who have developmental coordination disorder may also have one or more of these co-morbid conditions: Attention deficit hyperactivity disorder (ADHD) (inattention, hyperactivity, impulsive behaviour). [26] [27] [28] Autism spectrum disorder . [28] [29] [30] [31] Dyscalculia (difficulty with numbers). [32] Dysgraphia (an inability to write neatly or draw). [33] Dyslexia (difficulty with reading and spelling). [34] : 28 Hypotonia (low muscle tone). [3] Nonverbal learning disorder . [35] Sensory processing disorder . [36] [37] Specific language impairment (SLI) . [38] Visual perception deficits. [39] However, a person with DCD is unlikely to have all of these conditions. ... Other names include developmental apraxia, [9] disorder of attention and motor perception (DAMP) [9] [28] dyspraxia, [8] developmental dyspraxia, [9] "motor learning difficulties", [9] [28] perceptuo-motor dysfunction, [9] [28] [67] and sensorimotor dysfunction. [9] The World Health Organization currently lists developmental coordination disorder as "Specific Developmental Disorder of Motor Function". [8] Notable cases [ edit ] People who have publicly stated they have been diagnosed with developmental coordination disorder include actor Daniel Radcliffe , [69] photographer David Bailey , [70] model Cara Delevingne , [71] singer Florence Welch , [72] UK politician Emma Lewell-Buck , [73] [74] rugby player Ellis Genge , [75] and actor Will Poulter . [76] In popular culture [ edit ] Ryan Sinclair , a human companion of the Doctor in the BBC science fiction television programme Doctor Who , has the disorder. ... "Motor assessment of preschool aged children: A preliminary investigation of the validity of the Bruininks-Oseretsky test of motor proficiency - short form" . Human Movement Science . 28 (4): 543–50. doi : 10.1016/j.humov.2009.03.002 . ... Retrieved 7 March 2010 . ^ Irvine C (2013-09-28). " ' I'd love to wear eyeliner, but that requires a steady hand' Labour MP Emma Lewell-Buck struggled with clumsiness, until a diagnosis of dyspraxia helped her become a politician" . The Daily Telegraph . London . Retrieved 2013-09-28 . ^ Beater, Emily (5 March 2019).
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Auditory Agnosia
Wikipedia
Cognitive and Behavioral Neurology . 28 (3): 160–80. doi : 10.1097/WNN.0000000000000072 . ... Sensory Aphasia and Amusia . New York: Pergamon Press. pp. 28–41. ^ Mills CK (1891). "On the localisation of the auditory centre" . ... "An analysis of speech perception in word deafness". Brain and Language . 3 (2): 209–28. doi : 10.1016/0093-934x(76)90018-3 . ... Cortex; A Journal Devoted to the Study of the Nervous System and Behavior . 28 (2): 295–303. doi : 10.1016/s0010-9452(13)80056-1 . ... Rinsho Shinkeigaku = Clinical Neurology (in Japanese). 44 (1): 28–33. PMID 15199735 . ^ Tanaka Y, Nakano I, Obayashi T (February 2002).
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Hypothermia
Wikipedia
The opposite of hypothermia is hyperthermia , an increased body temperature due to failed thermoregulation. [7] [8] Contents 1 Classification 2 Signs and symptoms 2.1 Mild 2.2 Moderate 2.3 Severe 2.4 Paradoxical undressing 2.5 Terminal burrowing 3 Causes 3.1 Alcohol 3.2 Poverty 3.3 Water immersion 4 Pathophysiology 5 Diagnosis 6 Prevention 7 Management 7.1 Rewarming 7.2 Fluids 7.3 Cardiac arrest 8 Prognosis 9 Epidemiology 10 History 11 Medical use 12 Other animals 13 See also 14 References 15 External links Classification Hypothermia classification Swiss system [2] Symptoms By degree [9] Temperature Stage 1 Awake and shivering Mild 32–35 °C (89.6–95.0 °F) Stage 2 Drowsy and not shivering Moderate 28–32 °C (82.4–89.6 °F) Stage 3 Unconscious , not shivering Severe 20–28 °C (68.0–82.4 °F) Stage 4 No vital signs Profound <20 °C (68.0 °F) Hypothermia is often defined as any body temperature below 35.0 °C (95.0 °F). ... This results in an expected heart rate in the 30s at a temperature of 28 °C (82 °F). [17] There is often cold, inflamed skin, hallucinations, lack of reflexes, fixed dilated pupils, low blood pressure, pulmonary edema, and shivering is often absent. [20] Pulse and respiration rates decrease significantly, but fast heart rates (ventricular tachycardia, atrial fibrillation) can also occur. ... Any condition that decreases heat production, increases heat loss, or impairs thermoregulation, however, may contribute. [1] Thus, hypothermia risk factors include: substance abuse (including alcohol abuse), homelessness , any condition that affects judgment (such as hypoglycemia), the extremes of age, poor clothing, chronic medical conditions (such as hypothyroidism and sepsis ), and living in a cold environment. [28] [29] Hypothermia occurs frequently in major trauma , and is also observed in severe cases of anorexia nervosa . ... A water temperature of 10 °C (50 °F) can lead to death in as little as one hour, and water temperatures near freezing can cause death in as little as 15 minutes. [41] During the sinking of the Titanic , most people who entered the −2 °C (28 °F) water died in 15–30 minutes. [42] The actual cause of death in cold water is usually the bodily reactions to heat loss and to freezing water, rather than hypothermia (loss of core temperature) itself. ... Also, ventricular fibrillation frequently occurs below 28 °C (82 °F) and asystole below 20 °C (68 °F). [15] The Osborn J may look very similar to those of an acute ST elevation myocardial infarction. [17] Thrombolysis as a reaction to the presence of Osborn J waves is not indicated, as it would only worsen the underlying coagulopathy caused by hypothermia.NCF1, GCG, PRKCD, SOD1, TNF, TRH, LHB, IL12B, IL12A, TSHB, GNRH1, NOS2, CNR1, CHRNB2, MDM2, CXCL10, CCL20, FAS, FASLG, BCL2, HSF1, P4HTM, ABCA12, BTNL2, TRNW, TSPYL1, PAX8, SCN10A, SCN9A, PURA, MICOS13, SCN11A, ACADL, TRNV, TRNL1, ACADVL, ATP7A, SLC25A20, DBH, DGUOK, HLA-DRB1, HMGCL, ATP6, ND1, ND2, ACADSB, ND4, ND5, ND6, TRNK, ND3, IL6
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Diffuse Large B-Cell Lymphoma
Wikipedia
Its product, Bcl-2 protein, regulates cellular apoptosis (i.e. survival) by inhibiting the apoptosis-causing proteins, Bcl-2-associated X protein and Bcl-2 homologous antagonist killer . [27] BCL6 : This genes' product, Bcl-6, is a repressor of transcription that regulates the expression of other genes which control cell maturation, proliferation, and survival. [27] MYC : This protooncogene's product, Myc, encodes a transcription factor which regulates the expression of other genes whose products stimulate cell proliferation and expansion to extra-nodal tissues. [28] EZH2 : This gene's product, the EZH2 protein, is a histone-lysine N-methyltransferase . ... Patients who are refractory to, relapse within 1 year of diagnosis before starting, relapse within 6 months after completing, or progress within 2 years of starting R-CHOP have poorer prognoses. [28] R-CHOP is less effective and not recommended for patients who have MYC, BL2, and/or BL6 rearrangements regardless of their GBC, ABC, or non-GBC type. ... This regimen has attained 3 year progression-free survival rates of 21–37%. [14] Relapse following this treatment carries a very poor prognosis with median overall survival times of ~10 months. [28] Patients who have failed or because of health issues are ineligible for autologous stem cell transplantation have been treated with low-dose (i.e. low-intensity) chemotherapy conditioning regimens followed by allogeneic stem cell transplantation . ... The targeted antigen has usually been CD19 , a surface membrane protein expressed on virtually all B-cells including the neoplastic cells in DLBCL, NOS. [28] However, design of CARs [33] as well as the antigens chosen to be their targets [28] are constantly being changed in order to improve the efficacy of this therapeutic strategy. ... PMID 19958356 . ^ Kumar, V; Abbas, AK; Fausto, N; Aster, JC (28 May 2009). Robbins & Cotran Pathologic Basis of Disease .EZH2, MYD88, CARD11, PIK3CD, CD79B, CD79A, PRDM1, CD274, PIK3CG, MYC, CDKN2A, PIK3CA, ALK, PIK3CB, ABCB1, BCL2, MALT1, CREBBP, EP300, JAK2, FAS, FOXO1, GLI1, B2M, KMT2D, ABCG2, CDK2, RPS6KB1, GNA13, STAT6, CDK1, IRF8, FBXO11, IKZF1, NOTCH2, SKP2, CLTC, PDPK1, PRDM11, RANGAP1, NECTIN2, SOD2, SGK1, SOD3, NOM1, PRDX3, SPEN, CAT, TRAF5, TP53, TXNIP, BCAS2, SEC31A, CCDC86, PRDX4, IMMP2L, SMURF2, HLA-B, CD86, SMUG1, PWWP3A, TNFRSF8, ARAP3, MIR34A, GBA, NCOA5, BCL10, AICDA, DDIT3, CDC42BPB, FOXP1, RTEL1, IGH, MIR155, NPR2, NOS2, TNF, KRT20, TNPO2, STAT3, MIR21, LMO2, NOS1, AKT1, SYK, CCND1, KALRN, CXCR4, MCL1, MME, IGHV3-69-1, PVT1, MMEL1, MGMT, IL10, IRF4, BTK, DLEU1, ATM, ABCB6, BCL6, CD19, MS4A1, FCGR3A, LOC102723407, H3P10, PAX5, PRKAR1A, PTEN, IL6, LOC102724971, SPG7, CXADR, ARR3, FOXP3, CASR, PDLIM7, TRIM13, NR1I3, BIRC3, NFKB1, CXADRP1, IL2, CCND2, CD40, SOAT1, TCL1A, MEF2B, REL, MET, GSTP1, MCTS1, PDE4B, PDCD1, SLC16A1, CDKN1B, PDCD1LG2, PIM1, IGHV3OR16-7, HDAC9, IL4, HDAC6, SDC1, DNER, TBC1D9, MCAT, MDM2, ALB, CDKN2B, CDR3, TNFAIP3, TCL1B, HTC2, CMA1, MTHFR, CCND3, ZC3H12D, DAPK1, WEE1, VEGFA, TP63, CTNNB1, MIR17HG, GCSAM, CD44, CD38, PLK1, GSTT1, PTPN6, GSTM1, FHIT, MAPK3, ERCC2, MAPK1, MTOR, CDK4, BCL3, SOCS1, SMAD1, CASP3, LTA, XBP1, CD22, TNFSF13B, LAIR1, KMT2B, TET2, BCL2A1, BACH2, IFNG, CD163, S1PR2, LIG4, IL21, MIR15A, HSP90AA1, NFKB2, PARP9, CDK9, KRAS, UHMK1, MTA3, POU2F2, IL21R, PDE4A, MLH1, JAK1, ACKR3, MKI67, HIF1A, KMT2A, MIR155HG, MTX1, MUC1, NEK2, NRAS, HLA-DRB1, KLHL6, HLA-C, NCAM1, LGALS1, CDKN1C, CXCL12, SERPINA9, BCR, SLC22A2, ARID1A, LOC390714, CUX1, SOX11, CIB1, SPIB, SPN, SPP1, MRPL28, CR2, CASP1, TPX2, CCK, TRBV20OR9-2, CHEK2, FOXM1, MIR224, SUB1, CD37, TXN, SIRT1, CD58, H3P9, PTPN1, EPHB2, NXT1, FCGR2A, PTPRC, LOC105379528, SART3, RHOH, CES2, PARP1, CCL2, CCL5, APC, MSH3, WRN, MIB1, LPP, EZR, VIM, MTAP, SLC16A4, UVRAG, DCTN6, SLC16A3, XPO1, MBTPS1, XRCC1, PRMT5, MAL, EBI3, CFLAR, EFS, UCHL1, MAD2L1, LYN, EXOC2, MDM4, SOCS3, ZNRD2, HIP1R, ZAP70, MTA1, DIABLO, PRKCB, TYMS, HPGDS, SLC19A1, PMEL, BRD4, CRBN, SCT, IBTK, RPE65, SND1, RFC1, PLCG2, MXI1, IRAK4, PTPRO, TMED7, POLD1, POU2AF1, PTPN2, IGK, IL22, PSMD9, PCNA, SLPI, ABL2, SMO, TRAF6, TRAF3, NR2C2, TP73, CKAP4, NFATC1, NFE2L2, PSIP1, NME1, ZEB1, MAP3K7, KDM6B, TLR9, STAT1, ACSBG1, NOTCH1, ROR1, OAS3, SPI1, SLC7A4, SMARCA4, LGALS3, GRN, FKBP4, CCNE1, CASP9, FLT1, MIR497, GABPA, GAPDH, C1QA, ANTXR2, GNA12, GOT2, TNFRSF13C, GPX4, BTG1, HSPA4, GTF2H4, GZMB, H2AX, BRCA1, MTDH, HK2, BPI, HLA-DQB1, HMGB1, HAVCR2, TMED7-TICAM2, BDNF, NR4A1, FCGR3B, FASN, ETS1, CD28, CRP, CSF2, MIR146A, MIRLET7B, MALAT1, MIR17, MIR195, TICAM2, DNMT1, DNMT3A, MIR214, E2F1, MIR223, EIF4B, CDKN1A, EIF4E, MIR23A, EIF4EBP1, CDH1, MIR31, CD70, ERCC5, BTLA, DTX3L, ESR2, CD36, ETFA, OPN1SW, MIR142, ASCC2, PPP1R2C, IL2RA, IL4R, CXCL8, IL10RA, ID3, IL17A, VTCN1, BIRC5, IRF1, ISG20, RAPH1, ITGAX, ITPR2, H3P23, H3P42, ADA, KDR, ACVRL1, GAS5, LAG3, LAMC2, LBR, ACTB, ATP7A, TNFRSF9, ATR, BCL2L2-PABPN1, BCL2L2, IFI27, HDAC4, IL24, WIF1, RASSF1, MIR221, CORO1A, GLMN, IL1RAPL1, MIR222, CCR2, PIM2, BCL2L10, METAP2, H3P47, TNIP1, COPS5, SH3BP5, MIR25, MIR27A, MIR27B, MELK, MIR28, MIR22, VSIG4, CD300A, SNHG16, NCR2, RCOR1, AIM2, PASK, MIR145, RAD50, LINC01672, MIR150, MIR16-1, SPART, KDM1A, MIR30A, MAP4K4, MIR1234, MIR197, MLXIP, BCL2L11, MIR200C, SYCE1L, MIR210, PHB2, HOTAIR, MIR29C, NAPSA, POTEF, MIR33A, MIR494, RACK1, RBCK1, NCOR2, AHSA1, CCT4, MIR504, CXCL13, SNHG14, MIR4638, POU5F1P3, TP53COR1, ANP32B, YAP1, BATF, POU5F1P4, PANDAR, MIR144, USP34, HULC, D2HGDH, CIB2, MAD2L2, LUNAR1, MIR146B, NCOR1, KEAP1, BAG3, HSPH1, MASP2, WARS2, MNS16A, MIR99A, MTCO2P12, MIR135B, LRP1-AS, NPM3, MTSS1, SMAD5-AS1, BCLAF1, MIR148B, CXCR6, MIR328, MIR431, PRDX6, MIR323B, MIR451A, MIR511, WTAP, LINC00273, NEAT1, MDN1, KDM2B, MAP3K20, BCL11A, IL17D, FCRLA, PRKAG3, RIPK4, GLIS2, MIR127, MIXL1, FSD1L, ARHGAP24, PARP14, LY6K, DOHH, ORAI1, IL23A, CHRDL1, UCHL5, NAPRT, C1RL, MZB1, CGB5, FOXP2, CGB8, PRRT2, LEF1, CARD16, RMDN1, ASCC1, RASGRP4, MSI2, FCRL4, DOCK8, TRPM4, EAF2, KLHL1, PCDH10, GRAP2, SLC5A7, NDRG2, NSD1, GMCL1, PCBP4, GORASP1, P2RY12, WNK1, MYDGF, LMO3, FSD1, PAG1, MAP1LC3B, MORC4, CCAR1, RNF34, NLRP2, SYBU, MEG3, LAPTM4B, FBXW7, RMDN3, TUG1, ELL3, MPIG6B, DEFB126, PGPEP1, IL31RA, F11R, SLCO6A1, SIRT3, CNRIP1, FOXK1, CNOT6L, RNF19A, SSBP2, IL27, AMACR, PATZ1, NUTM1, SLAMF7, LOC283177, PRAME, LYPD5, FIRRE, ILDR1, TES, EIF4E3, DICER1, TSPAN33, ZACN, GSTK1, SLC27A1, CRTC1, TMEM189, TMEM189-UBE2V1, NEDD4L, SIK2, MIRLET7G, MIR10A, MIR125A, POLDIP2, PHGDH, PPARGC1B, COMMD1, ADGRE2, CD109, PASD1, HT, VPREB3, BLNK, IL34, LGALS13, MYLIP, PYCARD, APCDD1, LYPD4, LGALS16, SETD2, IGHV3-23, CKAP2, IGHV3-52, RMDN2, IGHV4-34, EML4, SGSM3, NKX6-3, UBR1, CRTC2, AGO2, KLHDC8B, MORC1, MARCHF8, RASGEF1A, HAVCR1, CXCL16, NAT2, KL, GCLC, FLI1, FN1, FOS, FOSB, KDSR, XRCC6, GATA2, GATA3, GEM, GLI2, LIF, GPI, XCR1, MKNK2, GPX1, NR3C1, GSTA1, GUCA1B, HDAC2, HELLS, FBP1, FABP7, ETV6, ETV5, ATN1, DUSP4, DVL3, S1PR1, EFNA5, EFNB2, EGF, EGR3, EIF4A1, EIF4A2, ELAVL2, ELF3, ENO2, EPHA4, EPHX1, EPO, ERG, ERN1, ESR1, HGF, HIC1, HLA-DQA1, IL9, IL13, IDO1, CXCL10, INPP5D, IRAK1, IRF2, ISL1, ITGAM, ITPR1, ITPR3, JAK3, JUN, JUNB, JUND, KIF2A, KIR3DL1, LAMP1, LCK, LEP, IL10RB, IL1B, HLA-G, IL1A, HLX, HMMR, HMOX1, HNMT, HNRNPK, TLX1, HSPA8, MRPL58, IDH1, IDH2, IFNA1, IFNA13, IFNB1, IGF1, IGHA1, IGHM, JCHAIN, IGL, IKBKB, DPP4, DOCK2, DNMT3B, BLK, BMI1, BMP6, BRAF, BRCA2, BUB1B, BYSL, TSPO, SERPING1, CACNA1C, CALD1, CALR, CASP8, RUNX3, CCNH, CCNT1, CD247, CD5, CD14, CD27, CXCR5, BIK, CD59, BGN, ABO, ADAM10, AHR, ALDH1A1, AMCN, AMPD1, ANXA5, APAF1, XIAP, APP, APRT, RHOA, ARNT, STS, ATF3, BAX, BCL2L1, BCL7A, NBEAP1, CD47, CD63, NQO1, CCR8, CNC2, CNP, COL3A1, CRK, CRY1, MAPK14, CSE1L, CSF1R, CSF3, CSNK2B, CTLA4, CX3CR1, CYBA, CYP1A1, CYP17A1, CYP24A1, DAP, DAXX, DCK, ABCC2, CCR7, CD68, CCR1, CD74, CD81, ADGRE5, CDC20, CDC25C, CDH11, CDH13, CDK3, CDK5, CDK6, CDS1, CEBPA, CGA, CGB3, CHEK1, FOXN3, CHGB, CHM, CLU, LEPR, LMNA, SLIT2, UBE2V1, TNFRSF1B, TOP1, TOP2A, TP53BP1, TP53BP2, TPM3, TPT1, UBA52, UBE2N, UCN, LMNB1, UGCG, UMOD, VAV1, WARS1, YY1, ZNF134, ZBTB17, PRDM2, BTG2, TMSB4X, TLR1, TLE1, NKX2-1, SPARC, SPRR1A, SRM, STAT5A, STAT5B, STIM1, SYN2, SYT1, TAP2, TAT, TCF4, TCF7, TRA, TRB, TRG, TFF3, TGFB1, TGFBR1, THOP1, BAG6, AIMP2, ARHGEF5, TNFRSF14, FADD, TNFRSF10B, HDAC3, CDK5R1, PER3, PER2, ARHGEF7, SPHK1, TIMELESS, MBD2, BTRC, P4HA2, NOL3, MAP3K14, AIP, PIAS2, USP14, CD83, RPL23, TNFRSF6B, TNFSF10, NR4A3, TNFSF13, MLLT10, HMGA2, CLLS2, USP11, USP9X, SMC1A, PICALM, CDC7, SPOP, NR0B2, CUL4B, OGT, CAMK1, MKNK1, RFXANK, NCOA1, EIF4G3, EED, RIPK1, SOX2, SNAP25, SLC8A1, NBN, NEDD8, NFATC2, NFE2L1, NGF, NODAL, NOTCH3, NPM1, NRF1, NT5E, NTRK1, P2RY1, SERPINB2, PCYT1A, PDK1, PECAM1, PHB, PLAGL1, PLG, PLOD2, NCL, MTRR, POLA1, MTR, LPL, LRMP, SH2D1A, MXD1, SMAD5, MAP4, MBP, MC1R, BORCS8-MEF2B, MFAP1, CIITA, CD99, CXCL9, FOXO4, ABCC1, MSH2, MSN, MST1R, COX2, PMAIP1, POU5F1, SIAH1, RDX, RELB, RGS1, RNASEL, BRD2, RPS6, RPS6KA1, RPS6KA2, RPS6KA3, RPS20, RREB1, S100A8, CCL3, CCL4, CCL13, CCL18, CCL22, SELL, SELPLG, SET, RELA, OPN1LW, PPA1, RBL1, PTPA, PPP2R5E, PRKAA2, PRKCA, MAPK11, MAP2K7, LGMN, PSMB5, PSMB9, PTH, PTGS2, PTMS, PTPN13, PTPRD, PTPRJ, RAD1, RAD23B, RAD51, RARA, H3P40
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Myocardial Infarction
Wikipedia
Pain radiates most often to the left arm, but may also radiate to the lower jaw, neck, right arm, back, and upper abdomen . [28] [29] The pain most suggestive of an acute MI, with the highest likelihood ratio , is pain radiating to the right arm and shoulder. [30] [29] Similarly, chest pain similar to a previous heart attack is also suggestive. [31] The pain associated with MI is usually diffuse, does not change with position, and lasts for more than 20 minutes. [24] It might be described as pressure, tightness, knifelike, tearing, burning sensation (all these are also manifested during other diseases). ... Spasm of coronary arteries, such as Prinzmetal's angina may cause blockage. [24] [28] Tissue death [ edit ] Drawing showing anterior left ventricle wall infarction If impaired blood flow to the heart lasts long enough, it triggers a process called the ischemic cascade ; the heart cells in the territory of the blocked coronary artery die ( infarction ), chiefly through necrosis , and do not grow back. ... Treatment aims to preserve as much heart muscle as possible, and to prevent further complications. [28] Treatment depends on whether the myocardial infarction is a STEMI or NSTEMI. [69] Treatment in general aims to unblock blood vessels, reduce blot clot enlargement, reduce ischemia, and modify risk factors with the aim of preventing future MIs. [28] In addition, the main treatment for myocardial infarctions with ECG evidence of ST elevation (STEMI) include thrombolysis or percutaneous coronary intervention , although PCI is also ideally conducted within 1–3 days for NSTEMI. [69] In addition to clinical judgement , risk stratification may be used to guide treatment, such as with the TIMI and GRACE scoring systems. [16] [69] [111] Pain [ edit ] The pain associated with myocardial infarction may be treated with nitroglycerin or morphine . [28] Nitroglycerin (given under the tongue or intravenously) may improve the blood supply to the heart, and decrease the work the heart must do. [28] It is an important part of therapy for its pain relief, despite there being no benefit to overall mortality. [28] [112] Morphine may also be used, and is effective for the pain associated with STEMI. [28] The evidence for benefit from morphine on overall outcomes, however, is poor and there is some evidence of potential harm. [113] [114] Antithrombotics [ edit ] Aspirin , an antiplatelet drug , is given as a loading dose with the goal of reducing the clot size and reduce further clotting in the affected artery. [28] [69] It is known to decrease mortality associated with acute myocardial infarction by at least 50%. [69] P2Y12 inhibitors such as clopidogrel , prasugrel and ticagrelor are given concurrently, also as a loading dose , with the dose depending on whether further surgical management or fibrinolysis is planned. [69] Prasugrel and ticagrelor are recommended in European and American guidelines, as they are active more quickly and consistently than clopidogrel. [69] P2Y12 inhibitors are recommended in both NSTEMI and STEMI, including in PCI, with evidence also to suggest improved mortality. [69] Heparins , particularly in the unfractionated form, act at several points in the clotting cascade , help to prevent the enlargement of a clot, and are also given in myocardial infarction, owing to evidence suggesting improved mortality rates. [69] In very high-risk scenarios, inhibitors of the platelet glycoprotein α IIb β 3a receptor such as eptifibatide or tirofiban may be used. [69] There is varying evidence on the mortality benefits in NSTEMI. ... These medications include tissue plasminogen activator , reteplase , streptokinase , and tenecteplase . [28] Thrombolysis is not recommended in a number of situations, particularly when associated with a high risk of bleeding or the potential for problematic bleeding, such as active bleeding, past strokes or bleeds into the brain, or severe hypertension . Situations in which thrombolysis may be considered, but with caution, include recent surgery, use of anticoagulants, pregnancy, and proclivity to bleeding. [28] Major risks of thrombolysis are major bleeding and intracranial bleeding . [28] Pre-hospital thrombolysis reduces time to thrombolytic treatment, based on studies conducted in higher income countries, however it is unclear whether this has an impact on mortality rates. [123] Other [ edit ] In the past, high flow oxygen was recommended for everyone with a possible myocardial infarction. [81] More recently, no evidence was found for routine use in those with normal oxygen levels and there is potential harm from the intervention. [124] [125] [126] [127] [128] Therefore, oxygen is currently only recommended if oxygen levels are found to be low or if someone is in respiratory distress. [28] [81] If despite thrombolysis there is significant cardiogenic shock , continued severe chest pain, or less than a 50% improvement in ST elevation on the ECG recording after 90 minutes, then rescue PCI is indicated emergently. [129] [130] Those who have had cardiac arrest may benefit from targeted temperature management with evaluation for implementation of hypothermia protocols.TNF, NOS3, ACE, TGFB1, HMGB1, IL1B, AGT, MMP2, MMP9, CASP3, NPPA, GSK3B, ICAM1, GATA4, CAT, PPARGC1A, S100B, BECN1, SOD2, PLN, PLAU, LTA, MIAT, BCL2L1, IL10, HSD11B2, MYH7, PSMA6, OLR1, PHACTR1, BRAP, MIA3, SH2B3, WDR12, ESR1, THBD, IL6, EPO, CXCL12, APOE, ITGB3, TNFSF4, PLAT, BCL2, F7, F5, LGALS2, F2, REN, P2RY12, NR3C2, TNNI3, KIF6, LGALS3, F13A1, ATM, LRP8, IL1RN, HP, TP53, KLK1, BAX, SOD1, NOS2, HSPA5, MIR145, JAK2, PAPPA, TIMP2, DDIT3, TM6SF2, GCLM, IL6R, GCLC, SELL, CKM, LAMP2, PRKCE, NRIP1, ACTA2, CRP, NPPB, MIR423, ATP1A1, SIRT1, CKB, MIR125B2, VWF, EDN1, DGKZ, CREB1, CREM, CCN2, VDAC1, BAK1, ACE2, IGF1, KLF13, ADRB2, PDE3A, AGTR1, LDHA, ADORA3, CCL2, MIR761, MFF, ANGPT1, IFNA2, GJA1, ADORA1, DAB2IP, GGT1, ADIPOQ, HMOX1, SERPINE1, MMP1, HIF1A, TNFRSF12A, MAPK1, NFE2L2, AKT1, SELP, THBS1, SIRT3, F3, CYBB, IL17A, SMAD2, FN1, POSTN, ADRB1, ANGPT2, AGER, CD36, C3, TNC, PDE5A, TNFRSF1A, CCL5, CYBA, CD59, REG1A, FLT1, ANXA5, CDKN1B, CSF2, CASR, EDNRA, CTSB, MTOR, MIF, COL3A1, NFKBIA, TBX5, TNFRSF1B, PGF, HSPD1, UTS2, PLAUR, ITGB1, TGFBR1, MYH6, TRPV1, MDH2, MDK, IGF1R, MEF2C, EDNRB, SFRP2, EGLN3, HAMP, KCNK2, MMP14, BNIP3, MMP13, SOCS1, SDC1, SMAD4, ADAMTS1, SPARC, OPA1, VCAN, BDKRB2, CAV3, BDKRB1, MAP1LC3A, EGLN1, APOH, TFPI, SLC27A1, VDAC2, CSNK2A1, DCN, CSNK2B, DAB2, EPOR, ATP5F1D, MFN2, EPAS1, AVPR1A, ITGA3, CACYBP, DVL1, DAG1, EDN2, AK1, CYP11B1, KCNJ2, RAD50, TXNRD1, PDGFD, APOB, RPS6KB1, LPA, SLPI, HADH, LPL, GSR, FIS1, TBX3, UTS2R, TEK, GJA5, TGFB2, GHRH, TGFBR2, TTN, LDLR, SHH, RANBP1, YBX1, G6PD, FZD2, LCAT, MEF2A, TLR4, PCSK9, MAP3K5, BIRC5, IL4R, SLC27A6, PTN, PLCB3, OPRK1, ATG7, CCR3, TNFRSF14, COL1A1, ABO, CFL1, PPARG, PLCB1, CCNA2, OPRD1, PEBP1, C7, C8A, C8B, AIMP1, ABCA1, BTN2A1, SMAD3, CDKN2B-AS1, COL4A2, CTNNB1, ENPP1, ILF3, CLEC16A, LAMA3, FOS, ELN, MEFV, LDLRAP1, FAS, GLA, CAV1, GUCY1A1, IL23R, CBS, AP3D1, LRPAP1, IL12B, LIPA, ATP2B1, IRF5, LRP6, RNF13, STAT4, CFTR, MAPKAP1, PLCL2, ATL1, ITIH3, SMARCA4, CALR, BCHE, LMNA, HLA-B, JCAD, CYP17A1, ABCG5, DNAJC6, SPTBN5, RAF1, PLA2G6, MB, GCG, SORCS2, CXCR4, EMC8, PON1, MARCHF10, BAZ1B, THOC2, PIK3CG, PIGQ, OSGIN1, ZC3H3, GJA4, DYRK1B, PIGA, LZTR1, IVD, GTF2IRD1, CETP, PTPN11, ZC3HC1, ACSS1, CYP2C19, SCNN1A, CAD, YTHDF3, NLRP3, CDKN2A, ITGA1, NDST1, PLPP3, PECAM1, TSPO, ITPK1, NUP210, PTPRN2, FUT7, ABCC6, C20orf181, CD14, GLP1R, JPH3, TSPAN9, GTF2I, ABCG8, STAT3, CEP19, LARGE2, SRP54, PIK3CB, PML, MORF4L1, BRAF, HGD, HGF, NRG1, PIK3CD, DNAJC21, PITRM1, CSF3, SBDS, CST2, APOA1, TFF1, PIK3CA, GNB3, RFC2, APOC3, MAPK14, SLC2A10, TET2, MLX, PLA2G3, KLRC4, RGS12, LTBP2, VOPP1, CUL9, GP6, TAF4, GDF15, COL13A1, PDZD2, LIMK1, ERGIC1, POM121L9P, FGF2, BHMG1, ATXN2, SELE, CLCN1, SLC7A8, AVP, CELSR2, MTHFR, PSMB4, ALOX5, ALOX5AP, UGGT2, ZNF536, WNK2, ABCC1, VEGFA, MPO, AGPAT2, NCOR2, MPL, MALAT1, ANKUB1, SBF1, C9orf139, MYH9, BSCL2, TBL2, IL12A-AS1, MCCC2, TENM3, TRDMT1, IL12A, MMRN1, DPP4, GPR160, WRN, EIF2AK1, PSMA4, CLIP2, SEC24D, ALDH2, CCR1, PGR-AS1, BIN1, BCRP1, UBAC2, ARVCF, PLA2G2A, CCR2, POU2F3, MIR21, PLA2G1B, GPR135, PTGS2, TP73, CAVIN1, CPLX2, TCF25, SEPTIN9, DIDO1, UHRF1, FES, PLA2G7, FGB, SLC5A2, F10, TRAPPC9, C4A, SERPINA5, MMP3, SCNN1G, ERAP1, CYP27A1, CHRM3, SCNN1B, CCT2, IL1A, IKZF1, PLG, ITGA2, POLDIP2, AIMP2, RNF19A, AHSA1, APOA5, CRK, GRAP2, ADD1, ACCS, DECR1, GABPA, MIR499A, ACSS2, CCR5, ABCB1, PLA2G15, FSD1L, FSD1, ACTB, AGTR2, IKZF5, TM7SF2, PTEN, ADM, TNNT2, CYP2J2, CYP2C9, MTCO2P12, FGF23, TIMP1, CHDH, COX2, CX3CR1, ALB, PARP1, TXN, CFH, CYP2C8, THBS4, KDR, MIR34A, MSC, BDNF, LTA4H, FSTL1, ADAMTS13, CXCL8, GH1, MIR208A, TRS-AGA2-3, ADRA2B, MTR, ESR2, PTGIS, MAPK3, PROC, AHSG, IL4, MIR143, HFE, TBPL1, MBL2, GSTM1, CASP1, ITGA2B, SLC33A1, HPSE, GP1BA, CD34, HSPB3, EHMT1, HSPB1, IL18, MIR155, PPARA, APLN, CDKN2B, LCN2, ANXA1, PTK2B, FABP3, SORT1, OR10A4, MAPK8, S100A4, PTH, TNFRSF11B, ADAM8, NOS1, NM, NGF, ADH1C, OSM, FTO, PTGS1, AKR1A1, CIITA, MDM2, NT5E, PTX3, RLN2, ROS1, LIPC, LEP, MMP12, GPT, ARNTL, F2R, APOA4, SPP1, ST2, NR3C1, NOX4, NR1I2, TH, RIPK3, THPO, TIMP3, TLR2, FGA, COPD, C1QTNF9, VCAM1, LRPPRC, CHI3L1, ENG, MIR210, EGFR, DSPP, MIR126, DNASE1, MIR144, MIR17, CST3, CLU, CNR2, CPB2, SMUG1, SOAT1, COL4A1, MIR325, IL6ST, NTN1, IFNG, VPS51, HSPB2, SLC6A4, SHBG, ID2, MST1, GPR162, KLF4, EGR1, KIT, E2F1, ALOX12, HAVCR1, ATG5, ALOX15, C4B, PTGER4, VDR, GDF11, CCL11, EPRS1, PRKAB1, PRKAA2, TNFRSF4, SLC7A9, PCYT1A, DDX39A, KCNMA1, DES, BMI1, XRCC1, TREM1, INSRR, MYDGF, TLR9, BGN, NPR3, ABCG1, SERPINB2, ILK, NPY, GAS5, TRIB1, CTSD, CYP1A2, NFKBIL1, DDX39B, NFKB1, MIR146A, CYP11B2, SCG2, ADAMTS7, SERPINA3, MME, F11, TTR, BRCA1, THBS2, LBP, FABP4, ZGLP1, DNM1L, MIR208B, YAP1, PROM1, TFAM, COL18A1, SERPINF1, ACKR3, PER2, CD151, GSTP1, GSTT1, SELENBP1, SOCS3, CD40, SEMA6A, RUNX1, XPR1, AQP9, ITGAM, MIR223, MIR22, FAP, PRKAA1, S100A9, S100A8, FGF1, MGP, PDE4D, TMSB4X, RETN, FGG, TIMP4, ARG1, ANPEP, FUS, FPR2, CXCR6, DDAH2, PROCR, CLOCK, APOM, CREG1, LPAR2, CD163, MRAS, PRKCB, PRKCA, TXNRD2, PPIA, PADI4, TNFSF10, LIPG, ACSL6, UTRN, DENR, UGT1A1, TCP1, DUOX2, BAG3, DELEC1, KCNQ1OT1, SSTR4, SREBF2, NR1H3, INSIG2, SOD3, SMN2, RYR2, TGFBR3, SMN1, SLC25A37, EBI3, S100A1, SLC2A1, ACSL5, SEMA3F, CCHCR1, ATXN1, SDC4, DUOX1, SEMA3A, SLC52A1, DDAH1, BEST1, BHLHE40, FCN3, APOL1, DAPK2, KLK4, HDAC4, KDM3A, MTHFD1L, NES, RAPGEF5, XPO1, MEG3, MOK, INTU, PDCD4, UCP2, ANGPTL3, KCNE2, SETD2, NEIL3, PTPN1, TLR3, RCBTB1, THY1, PTGES, LOX, FBN1, BRS3, IL33, COL4A3, GLI3, C5AR1, IL15, C5, CXCL10, INS, PDX1, MIR326, GIPR, GHSR, COMT, BSG, MIR375, IGF2, COX8A, KCNQ1, KNG1, BMP2, ZNF627, GAP43, LIF, CRMP1, MIR183, CCND1, FNDC5, FLNA, LTC4S, FOXM1, IGF2R, CNR1, ADM2, CCND2, GSTM2, MIR29B1, MIR29B2, GSN, MIR23A, MIR30A, MIR30B, CD68, CYP2R1, CD40LG, ENTPD1, SCARB1, CD28, LRG1, CXCL1, PRRT2, MIR98, HSPA4, CGAS, CMA1, CAST, PLB1, GPR42, TXNRD3, GPER1, MIR203A, ZFAS1, AZIN2, IFNA1, IFNA13, SMAD1, LIFR, SERPINC1, CYP4A11, BTBD8, ENPEP, CYP1B1, ELANE, ACHE, MTAP, MIR150, F13B, MIR711, F2RL1, BRINP3, ETV2, CYP19A1, AIRE, CXCL16, GOLGA6A, NCAM1, NPPC, ACVR1B, GRK2, NPR1, PCSK1, NANOS3, NUCB2, ADRA1A, EPHX1, MPI, HPSE2, FOXO4, CTSK, PKD1, MIR590, PIM1, MIR106B, MCAM, ARSA, MIR100, TAS2R50, FCN2, AR, FCN1, MIR132, CTSG, DNTT, PF4, KMT2A, APEX1, APOC1, MIRLET7I, PFN2, MIR134, MIR140, MIR204, MIR221, MIR224, MIR139, MIR212, MIR130A, ERAL1, MIR206, AATF, MIR24-1, SIRT4, ADGRL3, MIR214, LPAR3, VPS33B, MIR199A1, MIR181A2, SH2B1, SOSTDC1, MIR181C, MIR185, MIR26A1, TXN2, GCA, MIR186, MIR15A, MIR188, MIR192, MIR197, MIR199A2, CLEC4E, MIR154, MIR19A, MIR19B1, DGCR5, PHGDH, MIR149, MIR15B, MIR20A, POFUT1, MIR142, MIR200A, BRD4, ANGPTL2, ARC, PALLD, MIR26B, KIF28P, MIR4306, MIR762, TMED7-TICAM2, LYVE1, CPSF4, MIR1908, JTB, MIR1825, MIR1231, MIR298, LILRB1, KIF2C, HOTAIR, WWP2, HNRNPUL1, MIR577, KIF3A, MIR421, CXADRP1, POTEM, APELA, MICA, MIR519D, NFAT5, H3P10, DCTN6, H3P24, H3P23, B3GNT2, LOC110806262, NRG3, RN7SL263P, OGA, TCFL5, PPR1, CST12P, TRAF3IP2, CERNA3, ARPP21, TP53COR1, APOC4-APOC2, TUBGCP2, COMMD3-BMI1, KLRC4-KLRK1, MIR486-1, SLC2A6, MIR27A, MIR34C, GPR166P, FAIM2, DNAI1, KDM1A, VN1R17P, POTEKP, EIF2AK4, PHLPP2, MIR93, MIR31, MIR148B, TBC1D9, MIR30E, MPRIP, STAB1, ABRAXAS2, METAP1, MLC1, MIR301A, MIR29A, MIR133B, SCAP, WIF1, FCMTE2, AKAP10, PADI2, MIR525, MIR498, MIR497, CHP1, ACOT7, MIR494, MIR146B, MIR424, MIR151A, MGLL, MIR370, MIR367, MIR328, CARD8, KLRK1, CD93, ATF6, SIRT2, MIR125A, TENM2, MIR122, AGGF1, DDIT4, TCHP, KBTBD7, REG4, TSPAN10, HMCN1, ROPN1L, FERMT3, TRPM4, CELF1, CNNM2, SESN2, NCAPG2, CASZ1, MAP1LC3B, TET1, ELOVL2, SARS2, ZC3H12A, TUG1, AGBL2, COQ5, CCDC93, AKT1S1, TSLP, HDAC7, GDE1, IL17F, GHRL, CLEC6A, MYOCD, DERL3, ZNF160, WNT3A, ABCC11, HHIPL1, TERF2IP, XRN1, ATAD1, ADTRP, PSRC1, RNASE7, IL1F10, DOT1L, PCDH18, KLF3-AS1, RMDN3, MIR10A, RHBDF2, EAF2, GREM2, STRA6, TINAGL1, MOAP1, ELOVL5, LGR6, BTNL2, ZNF77, CREBZF, SLC2A9, CELF4, STARD7, NGB, PTBP2, TRIB3, TBX20, MRTFA, JPH2, PELI1, CFAP97, ST6GALNAC1, TTTY15, GINGF2, PPP6R3, NDNF, ADIPOR2, OGFOD1, SLC52A2, CDC73, PAGR1, NOX5, ELOVL6, TRPM8, NBEAL1, NUCKS1, ACD, FEM1A, CDCA7L, MRPS6, CDCP1, AIDA, SMPD4, SYBU, SLC30A6, RAB14, TMEM54, SIRT6, ISYNA1, TMOD4, NCR3, COL6A5, IL27, SPESP1, GPRC6A, ZBTB12, DIPK2A, LINC00528, MLKL, DCP1B, RHOV, THAP5, OXER1, NENF, HFM1, CITED4, CCDC63, TMTC3, SPAAR, ZNF746, MRGPRX1, ASPM, NEAT1, OSTN, HSPB7, MIRLET7D, PEAR1, IL37, DISC1, GSTK1, TICAM2, SLC6A18, ACTBL2, HPGDS, EMC10, TNRC6A, CPP, STING1, RABGEF1, PPP1R42, SGSM3, MAT2B, REM1, ATP10D, IL19, PPM1L, A1CF, CPA4, GPR151, SLCO6A1, ANGPTL4, HSPB6, EARS2, JDP2, MRGPRX4, PLEKHO1, HSPA14, MRGPRX3, MUC17, HSPA12B, LRRC3B, BFAR, OMA1, TLR7, FBXO32, PLA1A, C1QTNF5, TRPV2, RMDN1, ADIPOR1, KCNIP2, ASCC1, RMDN2, ERFE, COMMD7, GNAS-AS1, MOB3C, IL22, NTM, MMVP1, TMED5, TMED7, TNNI3K, GLRX2, PTPRVP, B3GNTL1, IL34, PWAR1, APIP, GAL, CACUL1, TRPM6, A2M, CX3CL1, TXNIP, GCH1, GLO1, GFAP, GDF10, MSTN, GDF1, GCKR, GCGR, FXN, GC, GATA3, GAS6, GARS1, FYN, FUT4, GLRA2, GOLGA4, GPI, GPLD1, CXCR3, GPR17, GRK4, GPX1, GPX4, GRB2, GRIA1, CXCL2, GUCY1B1, GYS1, GZMB, HABP2, SERPIND1, GAST, FPR1, SLCO1B1, EPHB4, F9, EZH2, ESRRA, ERBB4, ERBB2, EPHX2, EPHB2, FOLR2, ENO2, ENO1, MARK2, EIF4EBP1, EFNA3, S1PR3, FABP2, FANCD2, FAT1, FBP1, FCAR, FCGR2A, FCGR3A, FCGR3B, FER, FGF9, FGFR1, FGFR3, FOXO1, FOXO3, FLT4, FOLH1, FOLR1, HDAC1, HHEX, HIC1, KLKB1, LCP1, RPSA, LAIR1, LAD1, KRT16, KRT1, KCNN4, HLA-C, KCNJ11, KCNE1, ITIH4, ITGB2, ISL1, IRF6, LCT, LEPR, LGALS3BP, LIPE, LRP1, LTB, CYP4F3, CD180, LYN, TACSTD2, SMAD7, MAG, MAP4, MAPT, MAS1, MBNL1, MCL1, IRF3, ITGA6, IPP, HTR1D, HLA-DMB, HLA-DPB2, HMGB2, HMGCR, HMGA1, NR4A1, HRG, HSD11B1, HSF1, HSPA1A, HSPA1B, HSPA1L, HSPA9, HSP90AA1, HTR2A, INHBA, ICAM3, IRF8, IFI27, IFNAR1, IFNGR2, IGFBP1, IGFBP3, IGFBP4, IGFBP7, IL2RB, CXCR1, CXCR2, IL11, TNFRSF9, S1PR1, ECM1, ECE1, BACH1, BMP6, CXCR5, BID, CEACAM1, CFB, BCL2A1, BAAT, RUNX3, B2M, AZU1, ATR, ATP5PF, ATOH1, ATF3, BNIP3L, BPI, BRCA2, KLF9, BTK, SERPING1, C3AR1, C9, CA2, CA3, SLC25A20, CALCR, CALM2, CAMP, CANX, CASP7, CASP8, ASPA, ASIP, ARR3, APLNR, ABCA4, AOC1, ACACA, ACACB, ACTG1, ACTG2, ADA, ADAM10, ADH1B, ADH5, ADORA2B, ADRB3, AGRP, JAG1, AHR, AREG, AKT2, ALCAM, AMPD1, ANG, ANK2, ANXA7, APAF1, APC, APOA2, APOC2, APOC4, APOD, APP, APRT, CASP9, CCK, E2F4, CTSZ, DBH, CYP7A1, CYP3A4, CYP2D6, CYP1A1, CXADR, CTSE, CD5L, NKX2-5, CSH2, CSH1, CRY2, CRX, CR1, DBP, DCC, DDT, DHCR24, SEPTIN1, DIO3, DLD, DMD, DNMT1, DNMT3A, DRD1, ATN1, RCAN1, TSC22D3, HBEGF, DUSP1, DYRK1A, CPT2, CPT1A, CPOX, CENPC, CD27, CD44, CD69, CDK1, CDC42, CDH2, CDH11, CDH13, CDKN1A, CDKN1C, CDX2, CEACAM5, CEBPD, CECR, CEACAM3, CPA3, CEACAM7, CHAT, CHGA, CHRNA4, CHRNA5, CHUK, CKMT2, ERCC8, CCR7, CNP, COL1A2, COL5A2, COMP, CP, CD46, MEIS2, MAP3K3, SF3A2, GPR65, LOH19CR1, FZD7, FZD4, FZD1, MIA, ECB2, FGF16, GHS, ALMS1, PXDN, DNALI1, ZNF202, YWHAZ, RAE1, RGS5, PPM1D, CYP4F2, MAPKAPK5, DEGS1, TNFSF11, PDE8B, RTCA, AOC3, SLC4A4, VAMP8, RIPK1, TNFSF13, DLK1, TNFRSF11A, IL18R1, XRCC3, XIST, XBP1, TPD52, TAC1, ADAM17, TBXA2R, TBXAS1, ZEB1, TRA, PPP1R11, TERT, TGFB3, TGM2, CLDN5, TNFAIP6, TNNI2, TNXB, TRPC3, WT1, TRPC4, TTC3, TTPA, TYR, SUMO1, UCP3, VEGFB, VEGFC, VIM, VIP, VLDLR, WARS1, WNT1, WNT11, FGF18, NRP1, ABCC8, HDAC6, NAMPT, BCAP31, PPIF, ABCC9, ABCB6, GJC1, NR2E3, TMEM11, DGCR2, NR1H4, NR1I3, MVP, GFPT2, TOMM70, ATP6AP2, MPZL2, TRIM13, STX6, RAMP1, CNPY2, WARS2, PRMT5, GPNMB, MERTK, FST, CARM1, ZNRD2, UBD, ANP32B, SLC35A1, GNLY, KEAP1, BMS1, SNX17, KL, CFLAR, CCN4, PER3, IER3, ARHGEF7, FUBP1, WASF1, TRPA1, ARTN, DNAJA3, LRRFIP1, AURKB, IL32, PPIG, COX5A, PIEZO1, RECQL5, FADS2, MED23, QKI, GSTO1, FHL5, GAL3ST1, SPTLC2, GOSR1, GOSR2, AKAP12, PRORP, PPP6R2, EIF4A3, SUV39H1, STXBP2, MET, PIK3C2G, PMM2, SERPINF2, PLD1, PLCB2, PLA2G4A, PITX3, SERPINA4, PROX1, PI3, PFN1, SLC26A4, PDK4, PDHB, PDGFRA, PNMT, POLD1, PON2, PPARD, PPID, PPP1R1A, PRF1, PRH1, PRH2, PRKAR1A, PKN1, PRKD1, MAPK10, MAP2K1, MAP2K6, PRL, PRNP, PDGFA, PDCD1, PCSK2, MYD88, MFAP1, KITLG, CXCL9, MITF, MMP7, MMP8, MRE11, MSRA, MT1JP, COX1, MTHFD1, ND2, MTTP, MYBL2, MYLK, PCNA, NAB1, NDUFA2, NTRK2, OGG1, OGN, SLC22A18, P2RX7, P2RY1, P2RY2, P4HB, PAK1, PAM, PRKN, PC, PROS1, MASP1, STXBP1, SLC5A5, SLN, SLC25A1, SLC16A1, SLC6A8, SLC6A6, SLC6A3, SLC5A3, PSEN1, SMTN, SLC5A1, SLC2A4, ST3GAL4, SIAH2, SGK1, SMARCA1, SMPD1, SMPD2, SNAI1, SNRNP70, SOX9, SP1, SP3, SPG7, SPRR2A, AKR1D1, SRY, SSTR2, STAT6, SULT1E1, ELOVL4, STIM1, SRSF3, SELENOP, SELPLG, RFC1, PSG2, PSMD9, PSMD10, PTBP1, PTGDS, PTGER2, PTK2, PTPRA, PTPRC, PZP, RAC1, RAP1A, RASGRF2, RENBP, RNASE1, CXCL6, RNASE2, RPGR, RPS19, RPS20, RRAD, RYR3, S100A12, SAA1, SAFB, SCN5A, CCL19, CCL20, CCL21, CCL22, H3P40
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Metabolic Syndrome
Wikipedia
However, despite the importance of obesity, affected people who are of normal weight may also be insulin-resistant and have the syndrome. [28] Sedentary lifestyle [ edit ] Physical inactivity is a predictor of CVD events and related mortality . ... The age dependency of the syndrome's prevalence is seen in most populations around the world. [28] Diabetes mellitus type 2 [ edit ] Main articles: Diabetes mellitus and Diabetes mellitus type 2 The metabolic syndrome quintuples the risk of type 2 diabetes mellitus. ... With appropriate cardiac rehabilitation and changes in lifestyle (e.g., nutrition, physical activity, weight reduction, and, in some cases, drugs), the prevalence of the syndrome can be reduced. [28] Lipodystrophy [ edit ] Lipodystrophic disorders in general are associated with metabolic syndrome. ... Psychological Medicine . 44 (10): 2017–28. doi : 10.1017/S0033291713002778 . ... Zeitschrift für Sie Gesamte Innere Medizin und Ihre Grenzgebiete . 32 (8): 124–28. PMID 883354 . ^ Singer P (May 1977).SIRT1, IL18, NOS3, LEP, CCL2, PON1, IL6, LPL, RETN, ADIPOQ, SHBG, CRP, HTR2C, INS, INPPL1, LBP, NR1I2, TRIB3, HMGA1, NR1I3, NEIL1, CELA2A, PPARG, HSD11B1, AGT, IRS1, SERPINE1, CD36, TNF, APOA1, APOC3, PPARGC1A, IGF2, HP, VCAM1, HMOX1, KL, TGFB1, PTGS2, PLA2G7, CYBA, BCL2, FGF19, HMGCR, EPHX2, BAX, CCL5, GCKR, FAS, TP53INP1, ATP2A2, G6PD, FTO, APOA5, ATP12A, ABCA1, CETP, APOB, PLA2G4A, ACADVL, HDAC3, FADD, PLA2G6, ALDOA, NAMPT, CHEK2, REG1A, TCF7L2, BUD13, NR1H3, GCK, ZPR1, MLXIPL, FADS2, UGT1A1, COLEC12, G6PC2, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A3, LIPC, ALDH2, HECTD4, VEGFA, DPP4, CLOCK, ACE, POU6F2, PNPLA3, ABCB11, BDNF, EDC4, VDR, SIK3, MROH2A, AGTR1, IGF1, RARRES2, RBP4, CNR1, IL1B, KLK3, REN, CCDC63, PPARA, MYL2, FABP4, GALNT2, LINC01679, FRMD6, CCHCR1, GPT, ZNF512, AHSG, FABP2, NR3C1, ZNF98, C2orf16, ALB, ETV3, ESR1, LINC02702, MGLL, GPN1, CBLN2, IL10, GCG, SPC25, APOE, TFAP2B, ADRB3, INSR, RNU1-1, CAMK2B, TOMM40, MTHFR, LMNA, FGF21, MC4R, FADS1, TMEM258, SELENBP1, PPP4R3B, NR3C2, ASIC2, LEPR, ALDH1A2, ROM1, BCHE, UCP1, GNB3, ENPP1, MTTP, SCD, PLG, LDLR, CST3, UCP2, GH1, CFTR, TLR4, DBP, PRKAA2, IL17A, TNFRSF11B, ANGPTL8, NPY, LTA, IRS2, PRL, ANGPTL4, PTH, NLRP3, ICAM1, SERPINF1, SELENOP, ESR2, POMC, CAT, PPARD, GLP1R, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PNPLA2, LIPG, PRKAA1, NUCB2, PRKAB1, IL1A, PTPN1, PCSK9, SIRT3, ADRB2, MPO, CTBP1, HNF4A, DECR1, ADIPOR2, CAPN10, CD5L, NFE2L2, IFNG, AR, ADIPOR1, SREBF1, BGLAP, FAT1, DNMT1, CD69, COPD, ENHO, LPA, GRN, IL6R, SELE, EHMT1, ZGLP1, CAV1, USF1, TLR2, AVP, STAT3, VWF, IGFBP3, GOT2, HAMP, ATM, ARNTL, AKT1, MMP2, AKT2, MMP9, GABPA, CDH13, ZBTB7C, PLIN1, PTEN, PKD1, SLC2A4, H6PD, CPT1A, SOCS3, APLN, MIR21, GHRL, C3, NOX4, CHGA, STEAP4, SLC5A2, RENBP, LINC01194, CXCL8, APRT, ABCG2, PTX3, IL1RN, COMT, CHDH, GSTK1, MTNR1B, IGFBP2, AZGP1, CP, IGFBP1, BRD2, CD14, SLC33A1, DYRK1B, AGA, LRP6, SELP, LIPE, MET, MFAP1, ANGPT2, APOA4, PER2, IL37, TNFRSF1B, APOC1, KRT16, TPO, KCNQ1, HPGDS, CD40, SGK1, FFAR4, GGTLC5P, OLR1, FLNA, KLF14, MKKS, GGT2, MTOR, SLC22A12, FOXO1, PGR-AS1, AHR, HFE, XDH, GGTLC4P, PCSK1, GYS1, TFEB, CNBP, ABCG1, BRAP, GGT1, FFAR1, INSIG2, NQO1, GGTLC3, SLCO6A1, GIP, TM6SF2, GC, HSPA5, CYP11B2, C1QTNF5, MIF, SLC2A9, MMP1, SFRP5, LPIN1, CDKAL1, CXCR6, ATF6, SERPINA1, CA10, RXRA, SAT1, INTU, AGER, MC3R, IGF2BP2, SCAP, KIDINS220, WWOX, IL23A, C20orf181, PLAG1, APOM, NGF, PROS1, NOS2, ANGPT1, IL22, MAPK8, NPPA, PSAT1, BTN2A1, TRPM5, OGG1, AMH, CTNNA3, HNF1A, ARL15, MIR876, PLTP, MYD88, SCG3, SLC27A6, SPAG8, CNTN3, SOD2, UTS2, GAL, MT1B, ANGPTL3, PLCG1, ADAM28, PECAM1, SLC17A5, TLR5, CRY1, CCND1, FGF23, OSBPL10, TNFSF14, GHSR, CPT2, GHS, GNA12, GOT1, QRFP, GSK3B, GSR, ZFP36, ANGPTL6, MFRP, HGF, HLA-DRB1, HMGB1, ATF3, NPEPPS, NR4A1, COL11A2, ARSA, FSHMD1A, ANPEP, ABCC2, BCL2A1, DIO2, CYP4F2, CYP17A1, GPBAR1, DUSP9, CYP3A4, EDN1, ERFE, DHX16, NRG4, CTSS, F2RL1, KSR2, PPARGC1B, FABP1, GNPDA2, CTBP1-AS, RBM45, FBN1, FBN2, CRY2, RNF10, ADA, MIR375, TRIM72, ABCG8, MIR144, MIR146A, HSPB3, MIR155, KCNJ11, NOD2, TNMD, CASP3, ACACB, LCAT, TPD52, PPIG, LECT2, LGALS2, CALR, LGALS3, UBL5, LIPA, TNFRSF1A, ACE2, LRP1, LRP2, TM7SF2, VPS51, ZNF410, BTF3P11, MIR145, CYP19A1, ACR, CEBPA, IL15, MIR126, IGF1R, ACHE, CD59, UCP3, MIR122, MTMR9, IRF1, CD40LG, CIDEA, BEST1, IGF2R, HTR2A, SYCE1L, EIF2AK3, BCL7B, ITM2B, PTCD1, SH2B1, MTCO2P12, GDF15, SH3BP4, CD163, MKRN1, LOC102723407, GCA, CADM1, ROCK2, COX5A, POC1A, PRDX5, GRAP2, FBXO8, GSTO1, RN7SL263P, MED13, RAB3D, CCL4L2, COMETT, TOB1, ATP6AP2, CASP12, TRIM13, KLRG1, FSTL3, SLC27A4, MIR1207, SLC27A5, NOD1, GADD45G, IFI30, FST, NCOA2, ATG7, PRDX4, CCT4, CYP46A1, RAI1, OGA, CTCF, OCLN, TXNIP, PDLIM5, WDHD1, PREB, TRAP, CUL7, PDIA4, TNS2, CLCA2, PPP1R13B, SDC3, RAPGEF5, ARHGEF12, NEDD4L, CLEC16A, PLCB1, KEAP1, TBC1D9, IRAK3, TTLL5, C5orf67, MYO16, FAIM2, NR1H4, SIRT2, NR1D2, CHAF1A, ABCB6, ARPC3, PPIF, TRIB1, MIR27B, HSPB8, SESN2, ZBED3, SYVN1, TSLP, GALP, TBL1Y, SLC39A13, NLRP12, CAVIN3, OSBPL11, ACSM1, CYP2R1, TPH2, ACSM2A, TMEM18, ACVR1C, RALYL, FUNDC1, SPNS1, TNFSF12-TNFSF13, FGFBP3, LNPK, BDNF-AS, TRPM8, MBOAT7, IRX3, MUL1, MCPH1, MIR424, NLRX1, TBL1XR1, HDAC11, PTGES2, FLAD1, SP6, LPAL2, SPX, APOL6, MIR196B, GPR119, CDAN1, ACAD8, SERPINA13P, CIMT, MIRLET7B, MIRLET7E, MIR130A, MIR132, MIR140, MIR143, MIR32, MIR152, MIR15A, MIR17, MIR195, MIR197, MIR200B, MIR200C, MIR219A1, MIR221, CCL4L1, CHKB-CPT1B, MIR33A, SLC27A1, SIK1, CBLL2, SLC30A8, ADAMTS18, CRTC2, SPRED2, CENPX, GPRC6A, IL27, FNDC5, CADM2, BRINP3, MIR320A, SLC35D3, GNAT3, IRF2BP2, KCP, MIR494, WNK1, MIR181D, SIDT2, MIR758, NUSAP1, MZB1, SLC25A37, SPTBN5, SCLY, SIRT7, HDAC7, GDE1, TMBIM4, ARID4B, BCL11A, IL17D, HDL3, FAM3B, NANS, RIN2, HSPA14, PRLH, IL25, GLRX2, NAAA, GLS2, LSM3, SPINK4, STK39, MCAT, SGSM3, DBNL, PYCARD, MYLIP, NME7, PIK3R4, DELEC1, ARHGEF3, TAS2R13, F11R, SOST, PLIN4, CCR2, PPP1R12C, AHI1, JPH3, ABHD6, WDR48, KLHL1, MARK4, CXCL16, CXADRP1, IL32, PROK2, MIR509-1, UBE2O, CIDEC, STRA6, ABCG5, FBRS, GORASP1, ARV1, CHPT1, MEPE, NMUR2, SLC30A10, DYM, RETSAT, MARCHF1, SLC6A15, MEG3, CAMK2N1, PARL, STAP2, UGGT1, ENAH, METTL2B, SELENOS, LANCL2, MIR27A, MYDGF, SUCNR1, MSC, SELPLG, XPR1, GFAP, GJA8, GNAS, GPI, UTS2R, GPER1, GPX1, GPX3, GSS, GSTM1, GSTT1, GUCA2A, HADH, HBA1, HCRT, HHEX, FOXA2, HOXA5, HSD11B2, HSPA4, HSPB1, HSPB2, GIPR, GDF2, HSPD1, GCNT2, ERBB4, ERN1, F2, F2R, F5, F9, FAAH, FABP3, ACSL1, ACSL4, FGR, FKBP4, FKBP5, FOXC2, FLT1, FOLH1, FOLR1, FOSL2, GAS6, GBA, GCGR, HSP90AA1, HSPG2, STX2, LCN2, LIMK2, LOXL2, LRP5, LRPAP1, LTA4H, LTC4S, LUM, LYZ, NBR1, MARCKS, SMAD2, SMAD3, SMAD4, SMAD7, MAP6, MARK1, MAX, MCL1, ADAM11, MEFV, KITLG, LCT, KRT18, IAPP, KNG1, IDE, IFNA1, IFNA13, IGFBP5, IGFBP6, CCN1, IL4, IL6ST, IL7, IL13, INSIG1, PDX1, ITGAX, ITGB4, JAK2, JAK3, JUN, KCNB1, KCNJ5, KCNJ13, KLKB1, EPO, EPHB1, CBFA2T2, APOA2, APOC4, APOH, APP, AQP7, ARR3, ARSB, STS, ATF4, BDKRB2, CFB, BMI1, BRCA1, BRAF, BSG, BTK, CAPN5, CAD, CALCR, CANX, CASP1, CASR, APOBEC1, ANK2, CCND2, AMPD1, ACOX1, ACP1, ACTB, ACTN3, ADCY5, ADM, PARP1, ADRA1A, ADRA2A, ADRA2B, GRK2, TLE5, AFM, AFP, AGRP, AGTR2, APLNR, ALAS2, AKR1B1, ALOX5, ALOX5AP, SERPINA6, CD34, ENO2, MAPK14, CSF3, CTF1, CTLA4, CTNNB1, CX3CR1, CXADR, CYBB, CYP2C19, CYP3A5, CYP21A2, CYP24A1, DAG1, DDIT3, DDX5, DHODH, DMD, DRD1, DRD2, HBEGF, EGFR, ELK3, CSF2, CRH, SCARB1, CRAT, CD38, ENTPD1, CD68, CDC42, CDH18, CEBPD, CES1, CFL1, CTSC, CGA, CHI3L1, CLU, CLN3, CCR4, CCR5, CMKLR1, COL5A2, COX4I1, COX8A, CPOX, CPT1B, CIITA, MLH1, KMT2A, SYP, TAC1, CNTN2, TBL1X, TBX5, HNF1B, TFAM, TFE3, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TH, THAS, THBS1, THRSP, TIMP1, TIMP2, TPM1, HSP90B1, TRPC1, SYT1, ABCC8, TUB, STK11, SLC6A2, SLC6A4, SLC6A8, SLC16A1, SLCO1A2, SNAI1, SNAP25, SNRNP70, SOD1, SPG7, SPINK1, SPP1, SPTBN1, SRD5A2, SREBF2, SSB, SSRP1, SST, ST2, SULT1E1, STIM1, TRPC6, TTR, MME, BCAR3, CUL4B, PIK3R3, CST7, APOL1, BHLHE40, KLF7, AKR1C3, SLC4A4, ADAM19, TNFSF12, RIPK2, TNFRSF11A, CREG1, NRP1, CFLAR, KAT2B, ARHGEF7, SQSTM1, ARTN, AIP, CLDN10, NR0B2, TAM, TXN, NRIP1, UBE2E2, SLC35A2, UGT1A, UMOD, NR1H2, VEGFB, VIP, VIPR2, VTN, WIPF1, WFS1, XBP1, XRCC4, ZBTB16, CXCR4, CCDC6, FOSL1, HBHR, SLC14A2, CLPP, GDF5, SLC5A1, SLC3A1, SLC2A5, P2RX7, SERPINB2, PRKN, PAX6, PC, PCK1, PCK2, PCYT1A, PDE3B, PDE4A, PDGFRB, PDHA1, PDK4, PDZK1, PGR, ABCB1, PHF2, PIK3R1, PIK3R2, PITX3, PKM, PLA2G2A, P2RY1, P2RX4, SLC2A2, OSM, MMP8, MRC1, MSH2, ATP6, COX2, CYTB, MTM1, MTRR, TRIM37, MUSK, MYO10, NARS1, NDUFS3, NFATC3, NM, NPC1, NPY1R, NPY5R, ROR1, DDR2, OSBP, PLCB4, PLD2, SERPINF2, POLR2D, RGS2, RNASE1, RNASEL, RNU1-4, RORA, RORB, RREB1, RYR2, SAA1, ACSM3, SALL1, TSPAN31, SCNN1A, CCL4, CCL11, CCL22, CXCL5, ACACA, SFRP1, ST3GAL4, SLC2A1, RFC2, RET, RELA, PYY, PPIB, PPID, PPP1CA, PRKAR1A, PRKCA, MAPK3, MAPK11, MAP2K2, PROX1, TAS2R38, RDH5, PTCH1, PTGDS, PTPN2, PTPRN2, RAC1, RAC2, MOK, RAG1, RAPSN, LINC02605
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Epilepsy-Intellectual Disability In Females
Wikipedia
[nb 4] [4] Due to the apparent female-limited expression of the condition, it eluded genetic mapping until 1997, which is when Ryan et al. mapped the responsible gene to the X-chromosome. [28] Eleven years after the success of Ryan et al., in 2008, systematic sequencing of X-chromosome exons in seven large families diagnosed with EFMR revealed PCDH19 gene mutations as the cause. This led to a shift in describing EMFR as PCDH19 gene-related epilepsy. [9] [13] [14] [17] [28] The discovery of the PCDH19 gene mutation led to the development of a genetic test for PCDH19 gene-related epilepsy. [ citation needed ] In 2009, Depienne et al. identified a male with a somatic mosaicism for PCDH19 gene deletion and a Dravet-like seizure disorder. [9] [11] [28] [29] [30] The findings resulted in Depienne et al. to identify PCDH19 mutations in patients with SCN1A negative Dravet syndrome. [9] [11] [28] This led to additional reports of PCDH19 positive patients, which broadened the clinical spectrum of the disorder. [28] [29] [30] Society and culture [ edit ] Caregivers of individuals living with PCDH19 gene-related epilepsy may seek support and information from a variety of resources, including the PCDH19 Alliance, The Cute Syndrome Foundation, and Insieme per la Ricerca PCDH19 - ONLUS (Italy). [ citation needed ] The PCDH19 World Conference, which is organized by Insieme per la Ricerca PCDH19 - ONLUS, occurs every other year, in odd years, in Rome, Italy. In alternating years, the PCDH19 Epilepsy Professional and Family Symposium is hosted in San Francisco, California. [ citation needed ] In 2014, the PCDH19 Registry was established, which is organized and funded by the PCHD19 Alliance, Boston Children's Hospital and the University of California, San Francisco. [6] International PCDH19 Awareness Day is held annually on November 9. [ citation needed ] Research [ edit ] Registry [ edit ] A PCDH19 Registry was established by the PCDH19 Alliance, Boston Children's Hospital and the University of California, San Francisco , to provide a meaningful resource of patients with PCDH19 gene-related epilepsy and to better understand the epilepsy and behavioral aspects associated with the mutation. [6] [31] Parallel associations European families are sponsoring basic and applied research in an Australian team and researching in other projects with the aim of finding a drug target for epilepsy PCDH19. [28] Basic research [ edit ] Ann Poduri and Alex Rotenberg at Boston Children's Hospital are currently conducting PCDH19-related epilepsy in zebrafish. [31] [32] The research, which is funded by grants from The Cute Syndrome Foundation and The Richard A. and Susan F. ... Therapeutics [ edit ] In February 2015, Marinus Pharmaceuticals commenced a Phase 2 proof-of-concept clinical trial to evaluate the safety and efficacy of ganaxolone , a synthetic analog of the neurosteroid allopregnanolone , for the treatment of uncontrolled seizure in pediatric females with PCDH19 gene-related epilepsy. [38] [39] The study will enroll up to 10 female pediatric patients, between the ages of 2 and 10 years old, with a confirmed PCDH19 genetic mutation. [33] [34] [39] The primary endpoint of the study is percent change in seizure frequency per 28 days relative to baseline. [38] [39] The Epilepsies Research Centre and Department of Medicine, University of Melbourne, are working on a compound to treat this disease.
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Treacher Collins Syndrome
Gene_reviews
Molecular Genetic Testing Used in Treacher Collins Syndrome View in own window Gene 1, 2 Proportion of TCS Attributed to Pathogenic Variants in Gene MOI Proportion of Pathogenic Variants 3 Detectable by Method Sequence analysis 4 Gene-targeted deletion/duplication analysis 5 CMA 6 POLR1B 1.3% 7 AD (3/3) 7 5/5 7 No multiexon or whole-gene deletions / duplications reported POLR1C 1.2% 8 AR (3/3) 8 3/3 8 No multiexon or whole-gene deletions / duplications reported No whole-gene deletions / duplications reported POLR1D 6% 9 AD (28/31) 10 28/31 10, 11 3/31 10 AR (3/31) 11 TCOF1 63%-93% 12 86% w/typical features 13 AD >97% 12 14 deletions reported 14 2 large deletions 14 Unknown 3% 7, 9 NA 1. ... Splendore et al [2000] reported 93% sensitivity (26/28 individuals with clinical diagnosis of TCS); Teber et al [2004] reported 78% sensitivity (8/36 individuals who had unequivocal features of TCS had no pathogenic variant in TCOF1 ); Bowman et al [2012] identified a TCOF1 pathogenic variant in 70.6% (84/119) of unrelated individuals with a strong suspicion of TCS; Vincent et al [2016] reported 63% sensitivity among individuals (92/146) with typical and atypical clinical features of TCS. 13. ... Classic Features of Treacher Collins Syndrome View in own window Classic Feature % (n) of Affected Individuals w/Feature Vincent et al [2016] Teber et al [2004] Splendore et al [2000] Very frequent Downward-slanting palpebral fissures 99% (76/77) 100% (35/35) 89% Malar hypoplasia / hypoplasia of zygomatic complex 97% (76/78) 97% (34/35) 81% Conductive hearing loss 92% (69/75) 83% (25/30) Mandibular hypoplasia / micrognathia 88% (69/78) 91% (32/35) 78% Frequent Atresia of external ear canal 71% (46/65) 68% (23/34) Microtia 70% (55/79) 71% (25/35) 77% Coloboma (notching) of the lower lid 63% (46/73) 54% (19/35) 69% Delayed speech development 57% (16/28) Asymmetry 52% (34/65) Preauricular hair displacement 49% (25/51) 24% (8/33) Rare Nasogastric tube or gastrostomy in neonates 28% (17/60) Cleft palate 21% (15/70) 33% (11/33) 28% Intubation or tracheostomy in neonates 18% (12/65) 12% (4/34) Choanal stenosis/atresia 13% (8/64) 25% (8/32) Cardiac malformation 11% (7/65) Very rare Rachis malformation 7% (3/42) Renal malformation 4% (2/50) Microcephaly 3% (2/66) Intellectual disability / delayed motor development 1.7% (1/58) 10% (3/30) Limb anomaly 1.5% (1/67) Table 3.
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Sensory Processing Sensitivity
Wikipedia
Archived from the original (PDF) on December 7, 2010 . Retrieved January 28, 2016 . ^ a b c Boyce, W. Thomas (2016). ... "Differential susceptibility to environmental influences: Interactions between child temperament and parenting in adolescent alcohol use" . Dev. Psychopathol . 28 (1): 265–275. doi : 10.1017/S0954579415000437 . ... Archived from the original (PDF) on June 6, 2012 . Retrieved January 28, 2016 . ^ Bernstein, Elizabeth (May 18, 2015). ... Development and Psychopathology . 23 (1): 7–28. doi : 10.1017/S0954579410000611 . ... Archived from the original on April 19, 2013. Madrigal, Alix (July 28, 1999). "She Writes About a Touchy Subject / Book aims to help sensitive people" .
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Pacheco's Disease
Wikipedia
In the first incident, the Floridan aviary imported 3 macaws from California into an aviary of 18 healthy birds. [18] This consisted of 7 macaws, 8 cockatoos, 2 hornbills and 1 mynah bird. [18] [20] Within a week, the newly imported macaws had died, followed by the other macaws and cockatoos that were originally residing in the Floridan aviary. [18] The other non-psittacine birds, the mynah and hornbills , that were largely exposed to the virus spreading around in the aviary were not affected in this situation and survived the outbreak. [20] In the second incident, 2 macaws and 1 cockatoo that were imported had died. [18] Such high mortality rate in this same Floridan aviary was largely influenced by the overcrowding and stressful environment of the birds. [18] This provided an ideal setting for Pacheco's disease to spread and promote the infection by transmitting it from bird to bird. [18] In this instance, examinations of the birds that were presented for necropsy showed that each died suddenly without clear evidence of any sicknesses other than lethargy . [27] There are no linkages between both outbreaks. [27] In March 1991, an outbreak had occurred in an aviary in Wyoming , despite being closed to newly introduced birds for 4 years. [28] Several bird species had died in this outbreak, including 2 golden mantle rosellas, 2 red-fronted parakeets, a yellow-bellied parrot and a double-yellow headed Amazon parrot. [28] These 6 birds showed few to no premonitory signs over the 2 weeks it resided in the aviary before its death. [28] Medical examinations showed an absence of gross lesions while the clinical signs confirmed Pacheco's disease as cause of death. This included watery, green diarrhoea as well as depression that terminated in death within a day. [28] In this instance, it is suspected that the source may have come from carrier species that were already residing in the aviary, such as the conures that are considered to be the main carriers of Pacheco's disease. [28] References [ edit ] ^ a b c d Ramis, Antonio; Tarrés, Jordi; Fondevila, Dolors; Ferrer, Luis (September 1996). ... "Pacheco's Disease in Psittacine Birds". Avian Diseases . 28 (3): 808–12. doi : 10.2307/1590254 .
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Factitious Disorder Imposed On Self
Wikipedia
The Journal of the American Academy of Psychiatry and the Law . 28 (1): 74–6. PMID 10774844 . ^ Elder W, Coletsos IC, Bursztajn HJ. ... "They Think They Feel Your Pain" , Wired.com. Retrieved on July 28, 2009. ^ Stephenson, Joan (21 October 1998). ... Archived from the original on 15 December 2004 . Retrieved 28 July 2009 . ^ Jones, Steve Computer-Mediated Communication and Community: Introduction Archived 1999-08-24 at Archive.today : Introductory chapter to CyberSociety (1995), Sage Publications . ... PMID 17878508 . ^ Kruse, Michael (February 28, 2010). "Death and Betrayal in Chat Room", The St. ... "Q&A: Munchausen by Internet" Archived 2010-01-10 at the Wayback Machine , Wired.com. Retrieved on July 28, 2009. ^ a b Russo, Francine (26 June 2001).
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Encephalitis
Wikipedia
Post-infectious encephalomyelitis complicating smallpox vaccination is avoidable, for all intents and purposes, as smallpox is nearly eradicated. [25] Contraindication to Pertussis immunization should be observed in patients with encephalitis. [26] Treatment [ edit ] Treatment (which is based on supportive care) is as follows: [27] Antiviral medications (if virus is cause) Antibiotics , (if bacteria is cause) Steroids are used to reduce brain swelling Sedatives for restlessness Acetaminophen for fever Occupational and physical therapy (if brain is affected post-infection) Pyrimethamine -based maintenance therapy is often used to treat Toxoplasmic Encephalitis (TE), which is caused by Toxoplasma gondii and can be life-threatening for people with weak immune systems. [28] The use of highly active antiretroviral therapy (HAART), in conjunction with the established pyrimethamine-based maintenance therapy, decreases the chance of relapse in patients with HIV and TE from approximately 18% to 11%. [28] This is a significant difference as relapse may impact the severity and prognosis of disease and result in an increase in healthcare expenditure. [28] The effectiveness of intravenous immunoglobulin for the management of childhood encephalitis is unclear. ... Clinical Infectious Diseases . 57 (8): 1114–28. doi : 10.1093/cid/cit458 . PMC 3783060 . ... "Epidemiology and outcomes of acute encephalitis". Current Opinion in Neurology . 28 (3): 277–82. doi : 10.1097/WCO.0000000000000199 .FCER2, TNF, CXCL10, IL1B, IL1RN, MBP, RELA, NFKBIA, SYF2, ABCB1, NGB, IL10, TLR4, BTK, ABCD1, STAT1, IRF3, CCR1, HYOU1, LGI1, CSF2, CNTNAP2, PRF1, BCL10, L2HGDH, MOG, STAG2, IL6, CIITA, IL23R, TMEM70, HLA-B, SH2D1A, ERAP1, LBR, MEFV, IL12A, RFXAP, ATRX, SLC6A19, IL12A-AS1, UBAC2, RFX5, STAT4, XIAP, IKBKG, CCL2, RFXANK, C4A, FAS, TLR3, KLRC4, AQP4, LAMC2, IL4, CXCL8, IFNG, GFAP, APP, GRIN1, CCR2, KNG1, CCR5, TSPO, NOS2, CHI3L1, REN, PTGS2, IFNA1, IFNA13, APOE, IL2, IFNB1, ITIH4, CXCL1, SMUG1, CRP, POMC, NLRP3, GRM5, CABIN1, PTX3, SPP1, TRPV1, VCAM1, STAT3, CXCL9, DNALI1, NLRP1, PSMD10, PPARG, PLG, ADM, GSTO1, GOSR1, BCAP31, SARS1, CXCL13, CCL3, NFE2L2, NEFL, COX2, CCL8, MMP9, CXCL11, MECP2, CD46, KLHL2, CD163, H3P24, IL17F, HMGB1, GABPA, GAD1, IGLON5, BDNF, IL27, ENO2, CASP3, EGR1, DPYSL5, GRN, SARS2, CX3CR1, GABBR1, TMED5, MTCO2P12, LINC02605, ERVK-32, CPT2, HSPA4, ICAM1, UNC93B1, IL7, CSF1R, MALAT1, PRKRA, RBM45, ALKBH3, LRRK2, ADAM9, PAOX, AOC3, PLA2G6, TNFSF13, PLB1, EEF2K, MIR142, MIR146A, TPP2, TYRO3, VEGFA, BEST1, ERVK-18, PCAT1, ERVK-20, C20orf181, VTN, MIR455, XRCC5, YWHAZ, ZNF175, MIR21, MIR206, ARTN, MIR155, MIR16-1, NTN1, IL33, UBE3B, TLK2, KCTD16, PELI1, ZNF415, DLL4, SMOX, KRT20, ATP6V0A2, IL23A, SAMHD1, ISYNA1, DBR1, UPF2, TP53, ERVW-1, IL37, PYCARD, HAMP, ACE2, RAB32, TCIRG1, HAVCR2, ZBP1, ADIPOQ, TBK1, DHX58, WNK1, HDAC6, GORASP1, MALT1, TNFSF13B, OGA, YME1L1, TINAGL1, SMOC1, ERVK-6, NES, ATP6V0A4, A2M, TNFRSF1A, CD40LG, CDSN, CNR2, CTLA4, CTNND2, CTSB, CYBB, ATN1, EDN1, ELF4, F2R, FGF2, GAD2, GDNF, GLP1R, GMFB, CXCR3, GPT, GRIA2, GRM1, GRM2, GSN, GSR, GSTM1, HLA-DRB1, HLA-DRB4, CD47, CD38, IFNAR1, MS4A1, ADORA2A, AGA, AGER, AGRP, ALB, ALOX5, AMPH, ANXA1, ANXA13, AOC2, APOD, ARG1, ARRB2, ARSA, STS, ATP6V0A1, AVP, B2M, BCL2, CXCR5, BSG, CASP1, CASP8, CAT, CCK, HMOX1, IGHG3, TLR2, PDCD1, ENPP1, PLA2G1B, PLA2G2A, PLA2G4A, POLG, EIF2AK2, PRNP, PSPN, PRODH, RANBP2, RBBP6, GRK1, RTN1, S100A12, CCL7, CX3CL1, SDC1, SNCB, SNCA, SST, SYT1, THM, THPO, TIMP1, TJP1, PDGFB, P2RX7, IL1A, ORM2, IL6ST, IL13, IL15, IL16, IL17A, IL18, IDO1, IRF7, ITGAM, LCN2, LEP, LGALS3, LIG4, MAP2, MAPT, MMP3, MPO, MRC1, MST1, NOTCH2, NRTN, NTF3, NR4A2, OAS2, OPRM1, PLAT
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Abortion In Hawaii
Wikipedia
Both states retained one requirement for women seeking abortions, that was that the abortion be performed by a licensed physician at an accredited hospital. [13] [14] [15] [16] There was a 90-day residency requirement in place at the time, and women were not required to provide a reason they were seeking an abortion [16] [17] Alaska and Washington also joined Hawaii in repealing abortion that year. [13] [18] In 1971, the state repealed its statute that said inducing an abortion was a criminal offense. [19] State law in 1971 required that any woman getting a legal abortion in the state needed to be a resident for some specific period between 30 and 90 days. [12] As of May 14, 2019, the state prohibited abortions after the fetus was viable, generally some point between week 24 and 28. This period uses a standard defined by the US Supreme Court in 1973 with the Roe v. ... That year, 5% of women in the state aged 15 – 44 lived in a county without an abortion clinic. [25] By 2017, there were only 3 clinics left. [11] In 2017, 28 facilities in Hawaii provided abortion care with 4 of those facilities being clinics, [26] including two Planned Parenthood clinics. [27] Despite a demand on Kauai , an island of 67,000 people, there were no abortion clinics there in 2017. ... This service allows many women seeking abortion to avoid inter-island travel to an abortion clinic. [28] Statistics [ edit ] From March 1970 to December 1970, 3,643 abortions took place at 15 hospitals in the state, with an abortion to live birth rate of 1:45. [16] Demographics of women seeking abortions in Hawaii that year said that 47% were white, 21% were Japanese, 10% were Hawaiian, 8.4% were Filipino, 5.0% were Chinese, 54% had never been married, 51% had never been pregnant before 71% were in a relationship, 20% were teenagers. ... Retrieved 2019-05-25 . ^ a b c d e f "Abortion access is a myth for rural women in Hawaii" . Mother Jones . Retrieved 2019-05-28 . ^ a b Tyler, C. W. (1983). "The public health implications of abortion" . ... Retrieved 2019-05-25 . ^ Low, Matt Donnelly,Gene Maddaus,Elaine; Donnelly, Matt; Maddaus, Gene; Low, Elaine (2019-05-28). "Netflix the Only Hollywood Studio to Speak Out in Attack Against Abortion Rights (EXCLUSIVE)" .
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Eastern Equine Encephalitis
Wikipedia
Several human cases were reported in New Hampshire, as well. [9] [10] On 19 July 2012, the virus was identified in a mosquito of the species Coquillettidia perturbans in Nickerson State Park on Cape Cod, Massachusetts . On 28 July 2012, the virus was found in mosquitos in Pittsfield, Massachusetts . [11] As of September 2019 [update] , a notable uptick in cases erupted in New England and Michigan, prompting some health departments to declare an outbreak. [12] [13] [14] [15] [16] [17] [18] As of 31 October 2019 [update] , five people died in Michigan, [19] [20] three people died in Connecticut, [21] one person died in Rhode Island, [18] one person died in Alabama, [22] one person died in Indiana, [23] and three people died in Massachusetts. [24] [25] [26] The virus was also found in goats, [27] in turkeys, [28] in deer, [28] and in horses. [29] [20] [30] [18] [28] As of September 9, 2020, there were 5 confirmed human cases between Massachusetts and Wisconsin. [31] As of October 9, 2020, one person died in Michigan, [32] and one person died in Wisconsin. [33] Europe [ edit ] In October 2007, a citizen of Livingston, West Lothian , Scotland became the first European victim of this disease. ... Retrieved 16 October 2019 . ^ Gore L (28 October 2019). "Mosquito-borne virus kills 1 in Alabama: What to know about EEE" . al .
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Vaginal Flatulence
Wikipedia
Macquarie Dictionary Online . ^ Bletchley, Rachael (28 August 2005). "Dear Rachael : Our wild sex but no hugs".
- Headache Associated With Sexual Activity Omim
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Progeroid Facial Appearance With Hand Anomalies
Omim
The father was the first child of healthy, nonconsanguineous parents; his father was 33 and mother 28 years of age at the time of his birth.
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Anti-P200 Pemphigoid
Orphanet
Clinical description The disease predominantly affects elderly people (mean age 66 years, range 28-91). Cutaneous lesions are polymorphic, but typically include itchy erythematous lesions and tense blisters, vesicles, and erosions on trunk and extremities, with possibly predominant palmoplantar involvement.
