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Pancreatic Neuroendocrine Tumor
Wikipedia
PanNETs are a type of neuroendocrine tumor , representing about one third of gastroenteropancreatic neuroendocrine tumors (GEP-NETs). Many PanNETs are benign , while some are malignant . ... Contents 1 Types 2 Signs and symptoms 3 Diagnosis 4 Staging 5 Treatment 6 Genetics 7 References 8 External links Types [ edit ] The majority of PanNETs are benign , while some are malignant . ... However, morphological imaging alone is not sufficient for a definite diagnosis [14] [16] On biopsy , immunohistochemistry is generally positive for chromogranin and synaptophysin . [17] Genetic testing thereof typically shows altered MEN1 and DAXX / ATRX . [17] Staging [ edit ] The 2010 WHO classification of tumors of the digestive system grades all the neuroendocrine tumors into three categories, based on their degree of cellular differentiation (from well-differentiated "NET G1" through to poorly-differentiated "NET G3"). ... However, there are some specific differences, which are discussed here. [8] In functioning PanNETs, octreotide is usually recommended prior to biopsy [8] : 21 or surgery [8] : 45 but is generally avoided in insulinomas to avoid profound hypoglycemia . [8] : 69 PanNETs in Multiple endocrine neoplasia type 1 are often multiple, and thus require different treatment and surveillance strategies. [8] Some PanNETs are more responsive to chemotherapy than are gastroenteric carcinoid tumors. ... The ASCO Post. May 15, 2011, Volume 2, Issue 8 "Archived copy" . Archived from the original on 2013-01-17 .MEN1, ATRX, DAXX, ELK3, TP53, EPHB1, SLC6A2, CEACAM5, CEACAM7, UQCRFS1, DHDDS, CHPT1, RALBP1, CIB1, SEMA4D, RIPK1, CXCR4, VEGFA, TTR, GNA12, TSC2, TFE3, CDKN1B, PSG2, POMC, MYCN, CEACAM3, GRN, MUC16
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Malaria
Wikipedia
The mosquitoes remain on the wall until they fall down dead on the floor. Insecticide treated nets [ edit ] A mosquito net in use. Mosquito nets help keep mosquitoes away from people and reduce infection rates and transmission of malaria. Nets are not a perfect barrier and are often treated with an insecticide designed to kill the mosquito before it has time to find a way past the net. Insecticide-treated nets are estimated to be twice as effective as untreated nets and offer greater than 70% protection compared with no net. [73] Between 2000 and 2008, the use of ITNs saved the lives of an estimated 250,000 infants in Sub-Saharan Africa. [74] About 13% of households in Sub-Saharan countries owned ITNs in 2007 [75] and 31% of African households were estimated to own at least one ITN in 2008. ... That number increased to 20.3 million (18.5%) African children using ITNs in 2007, leaving 89.6 million children unprotected [76] and to 68% African children using mosquito nets in 2015. [77] Most nets are impregnated with pyrethroids , a class of insecticides with low toxicity . ... According to the WHO and UNICEF, deaths attributable to malaria in 2015 were reduced by 60% [77] from a 2000 estimate of 985,000, largely due to the widespread use of insecticide-treated nets and artemisinin-based combination therapies. [74] In 2012, there were 207 million cases of malaria.ICAM1, FCGR2B, HBB, CD36, NOS2, FCGR2A, TNF, CR1, G6PD, CRP, HP, ACKR1, GYPA, SLC4A1, GYPB, NCR3, TIRAP, GYPC, LTBR, CISH, IFNG, HMOX1, PKLR, ABO, ANK1, AQP4, ATP2B4, HBG2, CYTB, ENOSF1, MSMB, MST1, ZNF536, LINC00944, SMARCB1, DHODH, PDR, TREML4, ZNF804A, OR51F1, OR51B5, CDH13, PROCR, SPATA3, OR51N1P, DHFR, DDT, RECQL4, FAM155A, IGHG3, IL4, MMP26, IL6, IL10, TLR9, HLA-DRB1, CSMD1, HBE1, DNAJC5, TMPRSS13, KLHL3, HDGFL2, TLR4, ATAD1, LMLN, TENM3-AS1, MECP2, POMGNT2, MBL2, TFRC, TGFB1, MIF, HLA-B, HAMP, DHPS, SERPINA3, TLR2, IL1B, FOXP3, FHL5, ACOT7, POTEKP, POTEM, GEM, KIR3DL1, RN7SL263P, ACTG2, ACTG1, ACTB, ACTBL2, HBA2, CYP2B6, HSPA4, LSAMP, TRAP, FCGR3B, HSP90AA1, IL1A, LAMP3, CD81, OR10A4, CCL5, ABCB1, FAS, CD40LG, TEP1, CXCL8, IARS1, HLA-G, CTLA4, HBA1, INSRR, ANGPT2, TYMS, CFH, GSTP1, IFNAR1, AGT, GYPE, FCGR3A, TXN, IL13, HSPB3, APOE, MTCO2P12, ISYNA1, FCGR2C, FYB1, VDR, HLA-A, GSTM1, GSR, ATR, MBL3P, LAIR1, PNP, IL12B, MNAT1, IL1RN, CYP2D6, IGF1, CD55, ACHE, DECR1, COX2, IL3, CCL2, MAPK1, NLRP3, FBXW7, HAVCR2, THBD, VPS51, EMP1, ITGA2B, PTGS2, ANC, IL10RA, XPO1, VNN1, PLEK, UMPS, IL2, IL2RA, TPPP, VWF, ISG20, ADAMTS13, IRF1, IL7R, AIMP2, IL12RB1, CLEC11A, METAP2, CDK5R1, ING1, IL18R1, PGD, HAP1, H6PD, PRDX5, GRAP2, CXCL9, MMP9, MPO, TAP1, CCL4L2, COX1, EBI3, ITGAX, COX3, TLR6, CXCL11, MTHFR, NFKB2, NFYA, NOS1, TBC1D9, ORC1, MCF2, AKAP13, RNF19A, TLR7, NT5C3A, IRAK4, KIR2DS1, CCL4, KIR3DL2, ICOS, COQ2, PSIP1, PECAM1, TPT1, RNASE3, ARTN, TP53, POLDIP2, PDCD1, TLR1, AHSA1, UBL4A, AQP3, AGRP, H3C9P, CYP2C8, CYP2C19, GTF2H4, CRK, RNA18SN5, ANXA2, H3P37, CASP1, NANP, CCL4L1, MAPK14, CXCR3, GNAS, GLO1, FCN2, SMIM10L2B, FKBP4, CD27, FOXO3, RBM45, HM13, IL33, HK1, CCR5, IFNA13, IFNA1, H3P42, DNAJB1, CHIT1, CYP3A4, SMIM10L2A, EGF, CHI3L1, CAT, EPHA2, NSFL1C, ADRB2, MYMX, COX8A, GAPDH, ABCB6, NR1I3, TREML1, PUM3, FMN1, TICAM2, TRIM13, BMS1, FZD4, RABEPK, LANCL1, FUT9, TNFSF13B, DCTN6, CXCR6, ARL6IP5, MRGPRX1, ZNRD2, ASPM, KAT5, RAB7B, CIB1, SEMA3C, ARMH1, STING1, CFDP1, CPQ, MYLK4, DLC1, AKR1A1, PIEZO1, TMPRSS11D, HDAC9, CARTPT, DEFB4B, TIMELESS, SPHK1, TMED7-TICAM2, PSC, VNN2, PROM1, UPK3B, H3P23, H3P28, TNFRSF11A, TNFRSF18, TP63, PDXK, CNTNAP1, DHX16, STK24, H3P19, LOH19CR1, WASHC1, WASH6P, LPAR2, MIR146A, APOBEC3B, SPAG6, CLOCK, ATG5, MIR142, AIM2, ABCG2, PCSK9, MIR155, NCF1, PPIG, MIR29A, VN1R17P, GPR166P, CD163, MIR451A, CXADRP1, ARHGEF2, CERS1, SPINK5, MASP2, GEMIN4, ACD, TLR8, MPPE1, MCPH1, HSPA14, RNF34, TMED7, ARMC9, PPP1R2C, IL22, TRAF3IP2, A1CF, PDCD1LG2, SLC44A4, SGSM3, MCAT, HPGDS, B3GAT1, ROPN1L, PHGDH, RAB14, IL23A, ABCG4, IFIH1, CFC1, BTNL2, MARCHF1, POLE4, CMC2, TMED9, ACKR3, PDXP, RHOF, AICDA, POLD4, RBM25, TOLLIP, TREM1, LGR6, ADA2, BACH2, ERAP1, GOLPH3, PARS2, KRT88P, TRIM5, IL17RE, CHP1, GPR151, NRSN1, EIF5AL1, CD160, APCDD1, ERFE, OXER1, DNAJB1P1, DSTN, GPRC6A, CCNI, ADIRF, EBNA1BP2, TMED2, EHD1, RNPS1, HPSE, SEPTIN9, SCLT1, NT5C2, SLC25A21, LEO1, NLRP12, TIMD4, CDCA5, DBA2, CARD16, PTPMT1, CGAS, RAB39B, TADA1, MRGPRX3, MRGPRX4, PGLS, PANX1, SPO11, LPAR3, CBX5, POFUT2, SPPL3, NBEAL2, LUC7L, PTPRC, FGF23, EIF5, FLT3LG, FLT1, FECH, FBN2, FBN1, FANCD2, F3, EPO, ENO2, ADGRE1, ELK4, ELF4, EIF5A, EIF4G2, CXADR, EGR3, EDNRA, EDN1, S1PR3, RCAN1, ATN1, DNMT1, DEFB4A, DHX9, ACE, DBP, CYP1A2, CYC1, GABPA, GCHFR, GDF1, GPR42, IL4R, IL1R1, IGFBP1, IFNGR1, IFNB1, IFNA2, IFI27, IDE, HTN3, HSPA9, HSD11B1, HRES1, HPRT1, HPR, HPGD, HMGB1, HLA-DOA, UBE2K, HGF, SERPIND1, HBG1, GTF3A, GSTT1, GSN, GPX1, GPT, GRK5, CYBB, CTSL, IL9, ANXA1, C3, BSG, BRS3, BRCA2, PRDM1, BCL2, BAX, ASPA, ASIP, ARR3, NUDT2, ANXA7, ANXA4, ANPEP, CSH2, AMBP, ALOX5, ALB, AHR, AFP, ADSL, ADRA2B, ADRA1A, ADORA2A, ADH1B, ADA, ACP1, ACACA, CAST, CASR, CD1B, CD1C, CSH1, CSF1R, CSF1, CS, CRYZ, CREM, CR2, CLDN4, CPB1, CNTF, CCR4, CLU, ERCC8, CTSC, CEL, CDC25C, CD69, CD68, CD40, ENTPD1, CD34, CD28, CD19, CD14, CD9, CD1E, CD1D, IL5, IL12A, FOSL1, SELE, SPTA1, SPP1, SPINK1, SPG7, SOD3, SOD1, SMN1, SLC16A1, SLC11A1, SLC6A7, SLC2A1, SGCG, SET, SEA, ABCA1, SDC1, CXCL5, CCL22, CCL18, CCL3L1, CCL3, CCL1, SAFB, SORT1, RPS19, RBP2, RANBP2, PEX19, SSR2, SSTR4, DENND2B, STAT6, DDX39B, PRRC2A, PFBI, RAB7A, CXCR4, MOGS, ZBTB16, TRPV1, VCP, USP1, TYRP1, TTR, TTPA, TRPC1, TRP-AGG2-5, TPO, TPH1, TNFRSF1B, TLR3, TGFB2, TRBV20OR9-2, TCN2, HNF1A, TADA2A, ADAM17, TAC1, STK3, PTPRH, PTHLH, IL15, KIR3DS1, MAL, MAF, LTB, LTA, LMAN1, LEPR, LDLR, LCN2, LBR, RPSA, LAG3, KRT13, KNG1, KIR2DS5, PSMD9, KIR2DL3, KIR2DL2, KDR, KCNG1, KARS1, ITPA, ITGB2, ITGAM, ITGAL, CXCL10, IDO1, ILF3, IL18, MAP2, MAP6, MEFV, MVD, PSMD7, PSMD2, PSMB9, PSEN1, PSAP, PRSS1, PROC, MAP2K1, PRKG1, PRKAR1A, PPP1R1A, PPARG, SEPTIN4, PLP1, PGM1, PGAM1, P2RX7, SLC22A18, TNFRSF11B, OMD, ODC1, NOS3, NQO2, NFE2L2, NEK2, MYD88, MYC, H3P5
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Neuroendocrine Tumor
Wikipedia
G1 and G2 neuroendocrine neoplasms are called neuroendocrine tumors (NETs) – formerly called carcinoid tumours. ... Unsourced material may be challenged and removed. ( November 2015 ) ( Learn how and when to remove this template message ) NETs from a particular anatomical origin often show similar behavior as a group, such as the foregut (which conceptually includes pancreas, and even thymus, airway and lung NETs), midgut and hindgut ; individual tumors within these sites can differ from these group benchmarks: Foregut NETs are argentaffin negative. ... Not all cells are immediately killed; cell death can go on for up to two years. [ citation needed ] PRRT was initially used for low grade NETs. It is also very useful in more aggressive NETs such as Grade 2 and 3 NETs [83] [84] provided they demonstrate high uptake on SSTR imaging to suggest benefit. ... AJCC Cancer Staging Manual (8 ed.). Springer . pp. 415–16. ISBN 978-3-319-40617-6 . ^ Kimura W, Kuroda A, Morioka Y (July 1991). ... Archived from the original on January 8, 2010. ^ a b Langley, K. (1994). "The Neuroendocrine Concept Today".MEN1, CDKN1B, SSTR2, DAXX, ATRX, BRAF, TYMS, PTHLH, SSTR3, SSTR1, BAP1, MTOR, SST, GAST, SLC6A2, INSM1, CTNNB1, RET, PIK3CA, DNMT3A, POMC, EPHB1, PIK3CG, PIK3CD, CHGA, ELK3, CHEK2, PIK3CB, GRN, CD274, SMUG1, AKT1, GNA12, TP53, SYP, VEGFA, CDKN2A, ASCL1, BCL2, ENO2, NCAM1, GCG, MYCN, EGFR, MGMT, KIT, RASSF1, VHL, SCLC1, SSTR5, FOLH1, NKX2-1, KRAS, CALCA, CCND1, TAC1, PTPRF, VIP, NTS, PAX5, RHBDF2, GRP, IGF1, SDHD, GOT1, MAP2K7, CCK, ERBB2, DLL3, PPY, CXCL12, TP63, SMAD4, MUC1, INS, GCGR, CKAP4, NEUROD1, ISL1, MYC, NGF, SATB2, GLP1R, HSP90AA1, H3P10, HRAS, CHGB, CALR, NTRK1, TEK, DLK1, CDK4, CDX2, TGFA, UCHL1, RPE65, PGR, PDGFRA, CARTPT, CRH, UVRAG, SLC5A5, CXCR4, IGF1R, OTP, IL6, PHLDA3, TTF1, PAX8, TACR1, STK11, TRIM21, PLA2G15, SCG2, SQLE, SLC18A2, TERT, HDAC9, SLC2A1, PROM1, BCL2L11, NTSR1, PAX6, NAMPT, NOCT, INA, PLCB3, CD200, MKI67, PDX1, MAPK1, NES, HPSE, PTEN, STMN1, ABO, RIPK1, RORC, RAF1, IL1B, TRPV1, GATA3, ANGPT2, FOXM1, PTK2B, SDHAF2, ACCS, BDNF, EPAS1, EGF, ACSS2, MIB1, DNMT1, CCN2, TRPM8, CLDN4, CPE, CD34, CD44, FLNA, CEACAM5, B3GAT1, GH1, GIP, GHSR, GIPR, ADCY2, ALB, H3P28, TPPP2, H4C5, GGH, MIR1290, TMEM209, ELOA3, H4C13, H4C14, GPR151, SRPX, LGR5, TNFSF11, PSMG1, DCBLD2, H4-16, NRP1, MRGPRX4, SOCS1, H4C2, MIR3137, MRGPRX3, TNFRSF25, H3P12, CYYR1, AZIN2, DNER, AK6, MLIP, LMLN, NRP2, GPR68, MIR1246, H4C8, MAFK, MIR150, MIR155, MBOAT4, H4C9, MIR21, POTEKP, VN1R17P, SNORD95, GPR166P, ARID1A, EID3, SLC7A5, MIR375, H4C15, FZD4, MIRLET7C, OXER1, H4C12, HMGA2, H4C3, ARX, ELOA3B, GPRC6A, H4C11, H4C6, C17orf97, POTEM, MRGPRX1, ARMH1, H4C1, GADL1, ACTBL2, H4C4, BRI3, SQSTM1, ISYNA1, GHRL, ACOT7, KLF12, KRT20, SLC27A4, TET2, BCOR, EBNA1BP2, RALBP1, PGRMC1, LAMTOR1, FBXW7, MEG3, MAML3, TMEM127, NTNG1, ATRAID, KHDRBS1, DCTN4, SNORD61, NUP62, SNORD48, NTSR2, LPAR3, MAPK8IP2, SRRM2, BRD4, TRAM1, SPINK4, XIST, PPWD1, RBMS3, SETD1B, ZHX2, TNFSF13B, USE1, MAK16, UBE2Z, ONECUT2, FHL5, GCM2, DCLK1, ZBED1, ARHGEF2, PALB2, ALG9, SNED1, TET1, PDCD1LG2, TMPRSS13, MTA1, RPAIN, H1-10, EEF1E1, LGR6, PRMT5, NEUROD4, YAP1, SCML2, LANCL1, PAK4, RABEPK, ZNF197, CTNNBL1, PNO1, INSL5, EPB41L5, HDAC5, AKT3, CD302, GBA3, DCAF1, ATAT1, SERPINA3, VCL, CGA, ESR1, ERBB4, EPHB2, E2F1, DUSP2, DSG3, DPT, DPP4, DMBT1, DDC, DAD1, VCAN, CREB1, CRABP1, KLF6, CLU, FOXN3, CEACAM7, CEACAM3, ESR2, ETFA, EZH2, GHRH, HSPA4, AGFG1, HMOX1, HMGA1, GTF2H1, GSN, GNAS, GNA15, GFRA1, F3, GDNF, FSHR, FLT4, FLII, FLI1, FOXO1, FHIT, FGFR4, CGB3, CFL1, UQCRFS1, CDKN2C, FAS, APRT, APLP1, XIAP, APC, SLC25A6, SLC25A4, ANGPT1, ALK, AKT2, AFP, PARP1, ADCYAP1R1, ADCYAP1, ACVRL1, ACTN4, ACTG2, ACTG1, ACR, AQP4, ARF1, ATM, CASP3, CDK6, CD40LG, CD36, CD33, CCNE1, CCKBR, SERPINA6, CAV1, CA9, ATOH1, VPS51, C5, BRS3, BRCA2, DST, BAX, AVP, ATP4A, HTC2, HTR2A, TNC, IAPP, SDC1, SCT, SORT1, RNASE3, RARB, PTPRZ1, PTPRM, PTBP1, PSMD7, PSG2, PRKAR1A, PPP4C, POU4F1, PNN, PKD2, PITX2, PCYT1A, SERPINA5, PAX4, SDCBP, SDHB, SDHC, ST2, UBE2I, TPM3, TPH1, TNF, TM7SF2, TERC, TAT, STAT3, SSTR4, SEMA3F, SSR2, SOX11, SOX4, SOX2, SLPI, SLC3A2, SLC1A5, SFRP1, PAK3, PAK1, TNFRSF11B, KIF11, MDK, MAOA, LCN2, RPSA, L1CAM, KRT19, KRT7, KRT5, IL12A, MET, IL9, CXCL8, IL2, IL1A, IGFBP1, IGF2, IFNA13, IFNA1, MDM2, MFAP1, ODC1, MUTYH, NTRK2, NT5E, NRAS, NOTCH3, NPY, NOTCH1, NFKB1, NEFM, MUC4, CD99, NUDT1, COX2, MTAP, MST1R, MST1, MSMB, MMP7, MLH1, PTPRC
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Esophageal Food Bolus Obstruction
Wikipedia
] and the use of large-bore tubes inserted into the esophagus to forcefully lavage it. [17] [ unreliable medical source? ] Endoscopic [ edit ] The Roth net can be inserted through the endoscope to remove pieces of the obstructed food. ... Traditional endoscopic techniques involved the use of an overtube, a plastic tube inserted into the esophagus prior to the removal of the food bolus, in order to reduce the risk of aspiration into the lungs at the time of endoscopy. [7] However, the "push technique", which involves insufflating air into the esophagus, and gently pushing the bolus toward the stomach instead, has emerged as a common and safe way of removing the obstruction. [7] [18] Other tools may be used to remove food boluses. The Roth Net is a mesh net that can be inserted through the endoscope, and opened and closed from the outside; it can be used to retrieve pieces of obstructed food. ... Primary and definitive diagnosis and therapy". Surgical Endoscopy . 3 (4): 195–8. doi : 10.1007/BF02171545 . PMID 2623551 . ^ a b Peksa, GD; DeMott, JM; Slocum, GW; Burkins, J; Gottlieb, M (April 2019). ... Gastrointestinal Endoscopy . 53 (2): 193–8. doi : 10.1067/mge.2001.112709 . PMID 11174291 . ^ a b c d Kerlin P, Jones D, Remedios M, Campbell C (2007). ... Can. J. Gastroenterol . 22 (10): 805–8. doi : 10.1155/2008/682082 . PMC 2661297 .
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Pancreatic Neuroendocrine Tumor
GARD
However in some cases, a pancreatic NET occurs outside of the pancreas. A NET arises from cells that produce hormones, so the tumor can also produce hormones. ... Pancreatic NETs are called either functional or nonfunctional. A functional pancreatic NET causes specific symptoms because it makes extra hormones, such as gastrin, insulin, or glucagon. ... Pancreatic NETs can be hard to diagnosis, often not identified until 5 to 10 years after they begin to grow. Most pancreatic NETs are not inherited and occur sporadically in people with no family history of NETs.MEN1, PCSK1, ATM, BRCA2, C11orf65, IGF2, SST, TP53, CDKN2A, SLC6A2, MTOR, EPHB1, POMC, GH1, GCGR, DAXX, ELK3, KRT19, SSTR2, CHGA, SSTR5, UCHL1, FZD4, GCM2, DLGAP1, DCLK1, SSTR4, INA, STK11, EIF2AK3, TFE3, THBD, CXCR4, PAX8, TSC1, TTR, TYMS, VEGFA, ABO, CNPY2, MRGPRX4, GPR166P, VN1R17P, MIR196A1, GADL1, MRGPRX1, GPRC6A, OXER1, GPR119, GPR151, MRGPRX3, SEMA3A, AZIN2, ACCS, STK33, LGR6, ACSS2, MEG3, NEUROG3, LPAR3, LILRB1, PLA2G15, RET, SLC2A3, INSM1, GRN, FFAR1, GHRH, GAST, FGFR4, F3, EGFR, DHCR24, CSF1, CRH, CHGB, CD44, CCK, CALCA, VPS51, ATRX, ASS1, ASCL1, ANGPT2, HSF1, PDX1, SLC2A2, KIT, SLC2A1, SEA, SDHB, SDHA, AKT1, PYGM, PTH, PTEN, PPY, PTPA, PGR, PCYT1A, PCNA, NFKB1, NEUROD1, MUC1, SMAD4, STMN1, KRAS, H3P10
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Neuroendocrine Tumor
GARD
A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... Pancreatic neuroendocrine tumors (also called islet cell tumors) - NETs that typically arise in the pancreas, although they can occur outside the pancreas. A p heochromocytoma is another, rarer type of NET that usually develops in the adrenal gland , but can also arise in other parts of the body. ... Functional NETs produce a specific set of symptoms due to the production of excess hormones, while non-functional NETs generally do not cause specific symptoms. In many cases, a person has no symptoms until the tumor spreads to the liver and/or impairs the function of an organ or system. This can make NETs very hard to diagnose. The majority of NETs are not inherited and occur sporadically in people with no family history of NETs.
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Leishmaniasis
Wikipedia
Many Phlebotomine sandfly attacks occur at sunset rather than at night, so it may also be useful to put nets over doors and windows or to use insect repellents . ... Travel Medicine and Infectious Disease . 5 (3): 150–8. doi : 10.1016/j.tmaid.2006.09.004 . ... Caister Academic Press. ISBN 978-1-904455-28-8 . Archived from the original on 23 April 2008. [ page needed ] ^ Dacie JV, Bain BJ, Bates I (2006). ... The Cochrane Database of Systematic Reviews (8): CD008736. doi : 10.1002/14651858.CD008736.pub2 . ... Archived from the original on 10 December 2015 . Retrieved 8 December 2015 . ^ Birsel R (28 June 2002).TNF, IFNG, IL10, IL6, ARG1, IL18, CRP, TNFRSF18, MCL1, HSPA4, IL1B, SLC11A1, CXCL10, NLRP3, IL17A, TLR2, CCR5, TLR4, IL32, PRDX2, LEP, TGFB1, CD274, FCN2, CD163, MTOR, HM13, IL4, BCL2, BAX, LMLN, IGF1, HIF1A, ANXA1, VDR, UNG, TAM, NR0B2, EZR, ADA, TLR3, STAT1, MAPK3, MAPK4, EIF2AK2, PSG5, PSMD7, PTHLH, PTPN1, PTPN2, PTPN6, RPA1, RPS6, CCL2, CCL8, CXCL11, SLC1A5, SLC1A7, SNAP25, SOAT1, SPP1, TP63, EIF2S2, CDK5R1, GOPC, FOXP3, HSPA14, CD244, TOLLIP, FBLIM1, MSTO1, FBXW7, ACSS2, PDXP, SLC52A2, ALDH1A2, TMPRSS13, DCLK3, IL33, CDCA5, PWAR1, ARMH1, HNP1, CCR2, UPK3B, DLL1, SGSM3, NOX1, PABPC1, NR1I2, SPHK1, EIF2B4, EIF2B2, PRKAB1, HSPB3, SLC7A6, ARHGEF2, AIM2, H6PD, RABEPK, LANCL1, TNFSF13B, EBNA1BP2, CD160, GABARAPL2, GABARAPL1, PRDX5, POLR1A, MAPK1, NOS2, PRKAA2, PRKAA1, CST3, CTLA4, CTSB, CTSL, CYP51A1, DDT, DHFR, DPAGT1, DPP4, DSPP, DUSP4, EEF1B2, EEF2, EGFR, EIF2B1, F2R, FCGR2A, FECH, FLI1, CPB1, CCR7, LRBA, ATR, AKT1, ALDH1A1, APEX1, APRT, AQP1, ATM, ATP2A3, ATP2B4, PRDM1, CD69, BRCA1, CAPN1, CD1A, CD28, CD86, CD40, CD40LG, CD44, FPR2, G6PD, GAPDH, CYTB, MNAT1, CD200, MPG, MPL, MPST, MRC1, MSMB, MST1, AHR, MFAP1, PAEP, PHB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLP1, PNOC, MAP3K10, MBL2, GCHFR, IFNB1, GCK, GTF3C1, HLA-C, HMOX1, HSPD1, IFN1@, IFNA1, IFNA13, IL1A, LTA, IL9, IL12A, IL12RB1, IL13, ITGA4, ITGAL, JAK2, RPSA, H3P28
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Mosquito Bites
Mayo Clinic
Avoid and exclude mosquitoes Limit exposure to mosquitoes by: Repairing any tears in the screens on windows, doors and camping gear Using mosquito netting over strollers and cribs Using mosquito netting when sleeping outdoors Selecting self-care products that don't have scents Use insect repellent Use insect repellent when mosquitoes are active. ... If you're using a spray repellent, apply it outdoors and away from food. You may need to reapply it 6 to 8 hours later if you're still in an area where mosquitoes are active. ... Some sporting goods stores sell clothing pretreated with permethrin. Don't wash bed nets or set them in sunlight, as this breaks down permethrin.
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Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency
Orphanet
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
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Neuroendocrine Neoplasm Of Esophagus
Orphanet
A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. ... NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.
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Uric Acid Concentration, Serum, Quantitative Trait Locus 1
OMIM
Evidence for both an increased rate of uric acid synthesis and an impaired net elimination of uric acid by the kidney has been advanced. ... The Q126X allele was associated with a significantly increased risk of hyperuricemia (odds ratio (OR) of 3.61; p = 2.91 x 10(-7)) and gout (OR of 4.25, p = 3.04 x 10(-8)). The Q141K allele was associated with a significantly increased risk of hyperuricemia (OR of 2.06, p = 1.53 x 10(-11)) and gout (OR of 2.23; p = 5.54 x 10(-11)). ... Autosomal dominant form Lab - Increased rate of uric acid synthesis - Impaired net elimination of uric acid by the kidney - Hyperuricemia Skin - Urate tophi ▲ Close
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Quartan Fever
Wikipedia
Both hydrochloroquine and chloroquine have a side effect of retinal toxicity when administered to infected patients. [8] Adverse effects of the drug chloroquine include agitation, anxiety, confusion, Gastrointestinal discomfort, [8] blurring vision, and/or irreversible retinal damage. ... Spraying is a method in multiple regions and to control epidemics. [10] Nets treated with insecticide are effective in preventing mosquito contact for three years. ... Retrieved 9 May 2019 . ^ a b "LABEL: CHLOROQUINE- chloroquine phosphate tablet" . DAILY MED . 8 July 2010 . Retrieved 10 May 2019 . ^ a b "Malaria" . 2019 . ... PMID 23403684 . ^ a b c d e f g Tizifa, Tinashe A (8 February 2018). "Prevention Efforts for Malaria" . ... PMID 22297155 . v t e Malaria Biology Malaria Cerebral Quartan fever Blackwater fever Pregnancy-associated Plasmodium biology life cycle vivax falciparum ovale malariae knowlesi Anopheles mosquito Lifecycle Schizont Merozoite Hypnozoite Gametocyte Control and prevention Public health DDT Mosquito net Malaria prophylaxis Mosquito control Sterile insect technique Genetic resistance Duffy antigen Sickle-cell anaemia Thalassemia G6PDH deficiency Malaria vaccine RTS,S Diagnosis and treatment Diagnosis of malaria Malaria culture Blood film Malaria antigen detection tests Antimalarials Artemisinin Mefloquine Proguanil Society and malaria Diseases of poverty Millennium Development Goals History of malaria Roman fever National Malaria Eradication Program World Malaria Day Epidemiology Malaria and the Caribbean Malaria Atlas Project Organisations Malaria Consortium Against Malaria Foundation Bill & Melinda Gates Foundation Imagine No Malaria Malaria No More Africa Fighting Malaria African Malaria Network Trust South African Malaria Initiative African Leaders Malaria Alliance Amazon Malaria Initiative The Global Fund to Fight AIDS, Tuberculosis and Malaria Medicines for Malaria Venture Category v t e Topics in epidemiology Branches of epidemiology by physiology/disease: Cognitive epidemiology Neuroepidemiology Psychiatric epidemiology Veterinary epidemiology by methodological approach: Biostatistics Disease informatics E-epidemiology Environmental epidemiology Economic epidemiology Clinical epidemiology Computational epidemiology Conflict epidemiology Genetic epidemiology Life course approach Meta-analysis Molecular epidemiology Molecular pathological epidemiology Nutritional epidemiology Paleoepidemiology Pharmacoepidemiology Social epidemiology Spatial epidemiology Tele-epidemiology Surveillance epidemiology ( Clinical surveillance ) Global epidemiology of: Asthma Attention deficit hyperactivity disorder Autism Bed bugs Binge drinking Cancer breast Depression Diabetes mellitus Domestic violence Hepatitis C Herpes HIV/AIDS Leprosy Malnutrition Mental disorders child Motor vehicle collisions Obesity childhood Periodontal diseases Pneumonia Representations Schizophrenia Snakebites Suicide Syphilis Teenage pregnancy Tuberculosis Epidemiology journals General American Journal of Epidemiology Canadian Journal of Epidemiology and Biostatistics Global Epidemiological News Epidemiologic Reviews Epidemiology International Journal of Epidemiology Annals of Epidemiology Journal of Epidemiology and Community Health European Journal of Epidemiology Emerging Themes in Epidemiology Epidemiologic Perspectives and Innovations Eurosurveillance Speciality Cancer Causes & Control Cancer Epidemiology Biomarkers and Prevention Epidemiology and Infection Genetic Epidemiology Infection Control and Hospital Epidemiology Journal of Clinical Epidemiology Paediatric Perinatal Epidemiology Pharmacoepidemiology and Drug Safety Preventive Medicine
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Marfanoid–progeroid–lipodystrophy Syndrome
Wikipedia
Marfanoid–progeroid–lipodystrophy syndrome ( MPL ), also known as Marfan lipodystrophy syndrome ( MFLS ) or progeroid fibrillinopathy , is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome , an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy . [1] [2] [3] [4] [5] It is a genetic condition that is caused by mutations in the FBN1 gene , which encodes profibrillin , and affects the cleavage products of profibrillin, fibrillin-1 , a fibrous structural protein , and asprosin , a glucogenic protein hormone . [1] [6] As of 2016, fewer than 10 cases of the condition have been reported. [1] Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition. [7] [8] In addition to severe lipodystrophy (loss of adipose tissue ), individuals with MPL show a concomitant marked loss of lean tissue mass , which also contributes to their "skinny" appearance. [3] Based on visual inspection, it was originally thought that the lipodystrophy associated with MPL was generalized . [3] However, it appears in fact to be partial, being confined to the face , distal extremities , and the paravertebral and lateral regions of the buttocks . [3] Normal amounts of subcutaneous fat are found in the torso over the chest and abdomen . [3] As such, the breasts are normal in females with MPL. [1] [2] Individuals with MPL have an appearance of being prematurely aged , but this is not due to actual early aging and is instead due to their paucity of subcutaneous fat . [1] As such, MPL is not truly a form of progeria . [1] In 2016, it was discovered that the partial lipodystrophy associated with MPL is caused by loss of the C-terminal domain cleavage product of profibrillin and novel glucogenic protein hormone, which has been named asprosin. [6] [8] Due to asprosin deficiency, individuals with MPL eat less, and do not gain weight or develop symptoms of diabetes like insulin resistance . [8] [3] [9] MPL patients burn less energy than normal individuals, but also consume less, and their net energy balance is moderately reduced. [10] In contrast to MPL patients, whose asprosin is undetectable in the blood, individuals with obesity and diabetes have elevated levels of asprosin. [6] As such, FBN1 has been nicknamed the "thin gene", and drug development for targeted inhibition of asprosin signaling is considered to be an "unusually promising" potential therapeutic route in the treatment of obesity and diabetes. [8] References [ edit ] ^ a b c d e f Passarge E, Robinson PN, Graul-Neumann LM (2016). ... Despite consuming between 5,000 and 8,000 calories daily, the communications student, has never tipped over 4st 3lbs. ^ Duerrschmid C, He Y, Wang C, Li C, Bournat J, Romere C, Saha PK, Lee M, Phillips KJ, Jain M, Jia P, Zhao Z, Farias M, Wu Q, Milewicz DM, Sutton VR, Moore DM, Butte NF, Krashes MJ, Xu Y, and Chopra AR (2017) - "Asprosin Activates the Hypothalamic Hunger-Circuitry" - article under consideration for publication as of 8/30/2017. External links [ edit ] Classification D ICD - 10 : E88.1 OMIM : 616914 External resources Orphanet : 300382 v t e Progeroid syndromes DNA repair RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome Baller–Gerold syndrome DeSanctis–Cacchione syndrome Nijmegen breakage syndrome Fanconi anemia Dyskeratosis congenita Ataxia telangiectasia De Barsy syndrome PIBI(D)S syndrome BIDS syndrome Marfanoid–progeroid–lipodystrophy syndrome See also: DNA replication and repair-deficiency disorder v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland syndrome
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Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
OMIM
Defective release of tPA antigen was found in 8 of the 91 patients. A partial family study of 6 of the 8 patients included 10 family members with and 21 without DVT. ... Molecular Genetics Among 51 healthy males, Jern et al. (1999) found that a 311-bp Alu insertion/deletion (I/D) polymorphism in intron 8 of the PLAT gene was significantly associated with the vascular release rate of tPA as assessed by a forearm venous occlusion test. Individuals homozygous for the insertion had significantly increased net local release rates than those who were either heterozygous or homozygous for the deletion. ... Ladenvall et al. (2003) screened 240 Swedish individuals without cardiovascular disease for 8 SNPs and an Alu insertion polymorphism at the PLAT locus, as well as for a polymorphism (173360.0002) in PAI1 promoter.
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Renal Tubular Acidosis, Distal, Autosomal Recessive
OMIM
The kidney plays a key role in this homeostasis under normal circumstances, owing to its ability to vary bicarbonate reclamation and net acid excretion over a wide range. ... Seedat (1964) reported a family with 8 affected members in 4 generations. ... Molecular Genetics Karet et al. (1998) analyzed the SLC4A1 gene (109270) in 17 families with autosomal recessive distal RTA but found no mutations. In 8 of 9 renal tubular acidosis kindreds with normal audiometry linked to the ATP6N1B locus, Smith et al. (2000) identified homozygous mutations in the ATP6N1B gene (ATP6V0A4; 605239).
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Cryohydrocytosis
OMIM
Studies of the temperature dependence of passive permeability showed that the minimum in the passive permeability, which was seen in normal cells at 8-10 degrees centigrade, was shifted up to 23 degrees centigrade in these abnormal cells, such that the permeability at 0 degrees centigrade exceeded that at 37 degrees centigrade. ... Further investigation revealed a red cell potassium leak that was 8-fold higher than control and a 2- to 3-fold increase in activity of the sodium/potassium pump, resulting in a diagnosis of cryohydrocytosis. ... Molecular Genetics Bruce et al. (2005) studied 11 pedigrees with dominantly inherited hemolytic anemias, 3 spherocytic (see SPH4, 612653) and 8 stomatocytic, including families previously reported by Coles et al. (1999, 1999), Haines et al. (2001), and Gore et al. (2004). ... At cold temperatures, the RBCs swelled in KCl-containing media but not in NaCl-containing or KNO(3)-containing media, indicating that volume changes were mediated by an anion-coupled cation transporter. In NaCl-containing media, net HOE642-sensitive Na(+)/K(+) exchange prevailed, whereas in KCl-containing media, swelling was mediated by a Cl-dependent K(+) uptake. Unidirectional K(+) influx measurements showed that the patient's cells had abnormally high activities of the K(+)Na(+)/H(+) exchanger (KNHE) and the K(+),Cl(-) cotransporter (KCC), which could account for the observed net movements of cations. Neither chloride nor cation conductance in patient RBCs differed from that of healthy donors.SLC4A1, IFNA1, IFNL3, PAEP, IL10, IFNA13, IFNA2, GPT, PNPLA3, IFNL4, CXCL10, MIR122, ADIPOQ, FBL, TNF, IFNG, AFP, HFE, IL6, TLR3, LEP, STOM, LGALS3BP, TLR7, MTHFR, TM6SF2, RBP4, HLA-C, VDR, TP53, HAMP, IL21, ITPA, IGF1, CLTC, SCARB1, SOCS1, KIR3DL1, IL22, IL15, MIR146A, IFNB1, APOB, TLR4, HLA-DRB1, HLA-DQA1, MIR145, HLA-B, HLA-A, SOCS3, UGT1A1, SLC2A1, TLR2, GEM, TLL1, SEMA3C, RNF7, NR1D2, MIR21, MIR324, AKT3, MIR27A, WDHD1, EIF2AK3, POLG2, USP18, MIR19A, MIR199A2, KLF12, GDF15, TNFRSF1A, MIR221, DDX58, MIR224, IER3, NR0B2, SEMA5A, VEGFA, MIR296, PGR-AS1, ABCB11, VCAM1, SLC33A1, TNFSF4, TRAF6, MIR34A, HEIH, SPEN, IFNL2, GALNT8, SIKE1, MAVS, MIR106A, CISD3, IFIH1, MBOAT7, CYBRD1, SEMA6D, RNF34, SLC17A5, IFNL1, GGT2, GGTLC3, SLC4A11, CYP2R1, RBM45, A2ML1, AICDA, GGTLC4P, RALGAPB, MIR130A, TBK1, TBX21, MIR199A1, SLC40A1, IFNLR1, IL21R, GOLM1, MIR195, MIR1307, TLR8, MIR192, GHRL, RTEL1, GGTLC5P, CD24, MIR602, PLIN2, TGFB1, CHI3L1, CMKLR1, CNR1, CNR2, CPT1A, CRP, CSF2, CST3, CTLA4, CYP2E1, DBP, DDX5, DPP4, EPO, ETFA, ETV6, FBP1, FCAR, FOXM1, GGT1, CCR5, CD69, TGFA, CD38, AGTR1, ANGPT2, APOA1, APOE, APP, AQP4, ARG1, ATM, BCL2, BCL2A1, BCL6, BGN, VPS51, CAD, CASP1, CD247, CD14, CD27, CD34, GPC3, GOT1, GOT2, CXCR3, NUDT1, MTTP, MUC1, MX1, NCAM1, OGG1, PECAM1, PIK3R2, PPP2CA, PTPA, PLAAT4, RIT2, CCL4, CCL22, CXCL11, SLC6A4, SPP1, STAT1, TAPBP, MBL2, SMAD4, LPL, IL17A, HBB, HLA-DQA2, IGF1R, IL4, IL5, CXCR2, IL10RA, TNFRSF9, IMPDH2, LGALS9, ITGAE, JUN, KDR, L1CAM, LAG3, LALBA, LAMC2, LBP, RARRES2
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Familial Gastric Type 1 Neuroendocrine Tumor
Orphanet
A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. ... Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).
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Distal Renal Tubular Acidosis
Orphanet
Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. ... Children require very high doses (4-8 meq/kg/day) whereas adults need much lower doses (1-2 meq/kg/day).SLC4A1, ATP6V0A4, ATP6V1B1, WDR72, SLC4A4, CA2, GATA3, OSGEP, EPHA3, NCOA7, MRGPRF, SLC26A7, VAX2, RBFOX2, ALB, SLC26A4, AMH, GYPB, GYPA, FOXI1, CANX, ATP6AP1, GYPE
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Maple Syrup Urine Disease
GeneReviews
Acute metabolic decompensation is corrected by treating the precipitating stress while delivering sufficient calories, insulin, free amino acids, isoleucine, and valine to achieve sustained net protein synthesis in tissues. Some centers use hemodialysis/hemofiltration to remove BCAAs from the extracellular compartment, but this intervention does not alone establish net protein accretion. ... Molecular Genetic Testing Used in Maple Syrup Urine Disease View in own window Gene 1, 2 Proportion of MSUD Attributed to Pathogenic Variants in Gene Proportion of Pathogenic Variants 3 Detectable by Method Sequence analysis 4 Gene-targeted deletion/duplication analysis 5 BCKDHA 45% ~92% ~8% 6, 7 BCKDHB 35% ~93% ~7% DBT 20% ~86% ~14% 8 Unknown 9, 10 NA 1. ... The risk for metabolic crisis in any ill person with MSUD depends on residual in vivo BCKD enzyme activity in relation to the net liberation of free leucine from protein catabolism. ... Plasma leucine levels rise predictably as a result of net protein catabolism provoked by a variety of physiologic stresses, including (more...) ... Acute manifestations (e.g., lethargy, encephalopathy, seizures, or progressive coma) should be managed symptomatically and with generous caloric support in a hospital setting (see Table 8). Correction of metabolic decompensation is predicated on treating the underlying cause of the decompensation and establishing net protein accretion.DBT, BCKDHB, BCKDHA, BCAT2, PPM1K, DLD, ARID4B, BDNF, CTSD, SERPINE1, TNS3, CACNA2D2, MKRN3, UMOD, SPN, NME1, PAH, NBN, MEA1, IL1B, GPR4, GLI2, F2, MECP2
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Epilepsy, Progressive Myoclonic, 10
OMIM
Studies in patient tissues showed no net change in glycogen synthase (see, e.g., GYS1, 138570) activity, indicating that polyglucosan formation was not related to glycogen synthase. INHERITANCE - Autosomal recessive GENITOURINARY Bladder - Incontinence MUSCLE, SOFT TISSUES - Lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy - Vacuoles in the myofiber cytoplasm NEUROLOGIC Central Nervous System - Myoclonus - Dysarthria - Mutism - Ataxia - Spasticity - Hyperreflexia - Learning disabilities - Cognitive impairment - Dementia - Seizures (in some patients) Behavioral Psychiatric Manifestations - Paranoia - Hallucinations - Psychosis - Outbursts MISCELLANEOUS - Onset in first decade - Progressive disorder - Protracted course - Variable severity - Some patients become bedridden - One consanguineous family has been reported (last curated November 2015) MOLECULAR BASIS - Caused by mutation in the PR domain-containing protein 8 gene (PRDM8, 616639.0001 ) ▲ Close
