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Neuroendocrine Tumor
Wikipedia
Some are asymptomatic. [ citation needed ] Animal neuroendocrine tumors include neuroendocrine cancer of the liver in dogs, and devil facial tumor disease in Tasmanian devils . [53] [54] [55] Familial syndromes [ edit ] Most pancreatic NETs are sporadic. [50] However, neuroendocrine tumors can be seen in several inherited familial syndromes, including: [29] multiple endocrine neoplasia type 1 (MEN1) multiple endocrine neoplasia type 2 (MEN2) von Hippel-Lindau (VHL) disease [29] neurofibromatosis type 1 [30] tuberous sclerosis [31] [32] Carney complex [33] [34] Given these associations, recommendations in NET include family history evaluation, evaluation for second tumors, and in selected circumstances testing for germline mutations such as for MEN1. [1] Pathophysiology [ edit ] NETs are believed to arise from various neuroendocrine cells whose normal function is to serve at the neuroendocrine interface. ... Neuron-specific enolase (NSE) is less specific . [1] [5] The nuclear neuroendocrine marker insulinoma-associated protein-1 (INSM1) has proven to be sensitive as well as highly specific for neuroendocrine differentiation. [66] NETs are often small, yellow or tan masses, often located in the submucosa or more deeply intramurally, and they can be very firm due to an accompanying intense desmoplastic reaction. ... Cryoablation has been less successful for GEP-NETs than RFA. [ citation needed ] AdVince, a type of gene therapy using a genetically modified oncolytic adenovirus [89] and supported by the crowdfunding campaign iCancer [90] was used in a Phase 1 trial against NET in 2016. [91] Epidemiology [ edit ] Although estimates vary, the annual incidence of clinically significant neuroendocrine tumors is approximately 2.5–5 per 100,000; [92] two thirds are carcinoid tumors and one third are other NETs. ... World Journal of Clinical Oncology . 2 (1): 28–43. doi : 10.5306/wjco.v2.i1.28 . ... Annals of the New York Academy of Sciences . 733 (1): 1–17. Bibcode : 1994NYASA.733....1L . doi : 10.1111/j.1749-6632.1994.tb17251.x .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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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 . ... Combinations of several medicines have been used, such as doxorubicin with streptozocin and fluorouracil (5-FU) [12] and capecitabine with temozolomide. [ citation needed ] Although marginally effective in well-differentiated PETs, cisplatin with etoposide has some activity in poorly differentiated neuroendocrine cancers (PDNECs), [12] particularly if the PDNEC has an extremely high Ki-67 score of over 50%. [8] : 30 Several targeted therapy agents have been approved in PanNETs by the FDA based on improved progression-free survival (PFS): everolimus (Afinitor) is labeled for treatment of progressive neuroendocrine tumors of pancreatic origin in patients with unresectable, locally advanced or metastatic disease. [20] [21] The safety and effectiveness of everolimus in carcinoid tumors have not been established. [20] [21] sunitinib (Sutent) is labeled for treatment of progressive, well-differentiated pancreatic neuroendocrine tumors in patients with unresectable locally advanced or metastatic disease. [22] [23] Sutent also has approval from the European Commission for the treatment of 'unresectable or metastatic, well-differentiated pancreatic neuroendocrine tumors with disease progression in adults'. [24] A phase III study of sunitinib treatment in well differentiated pNET that had worsened within the past 12 months (either advanced or metastatic disease) showed that sunitinib treatment improved progression-free survival (11.4 months vs. 5.5 months), overall survival , and the objective response rate (9.3% vs. 0.0%) when compared with placebo. [25] Genetics [ edit ] Pancreatic neuroendocrine tumors may arise in the context of multiple endocrine neoplasia type 1 , Von Hippel–Lindau disease , neurofibromatosis type 1 (NF-1) or tuberose sclerosis (TSC) [26] [27] Analysis of somatic DNA mutations in well-differentiated pancreatic neuroendocrine tumors identified four important findings: [28] [6] as expected, the genes mutated in NETs, MEN1 , ATRX , DAXX , TSC2 , PTEN and PIK3CA , [28] are different from the mutated genes previously found in pancreatic adenocarcinoma . [29] [30] one in six well-differentiated pancreatic NETs have mutations in mTOR pathway genes, such as TSC2 , PTEN and PIK3CA . [28] The sequencing discovery might allow selection of which NETs would benefit from mTOR inhibition such as with everolimus , but this awaits validation in a clinical trial . mutations affecting a new cancer pathway involving ATRX and DAXX genes were found in about 40% of pancreatic NETs. [28] The proteins encoded by ATRX and DAXX participate in chromatin remodeling of telomeres ; [31] these mutations are associated with a telomerase -independent maintenance mechanism termed ALT (alternative lengthening of telomeres) that results in abnormally long telomeric ends of chromosomes . [31] ATRX / DAXX and MEN1 mutations were associated with a better prognosis . [28] References [ edit ] ^ Burns WR, Edil BH (March 2012). ... Current Treatment Options in Oncology . 13 (1): 24–34. doi : 10.1007/s11864-011-0172-2 . ... National Cancer Institute. March 7, 2014. [1] ^ a b The PanNET denomination is in line with current WHO guidelines. ... "Genome-wide analysis of pancreatic cancer using microarray-based techniques". Pancreatology . 9 (1–2): 13–24. doi : 10.1159/000178871 .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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Uric Acid Concentration, Serum, Quantitative Trait Locus 1
OMIM
Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait Loci See also UAQTL2 (see 612076), conferred by variation in the SLC2A9 gene (606142) on chromosome 4p; UAQTL4 (612671), conferred by variation in the SLC17A3 gene (611034) on chromosome 6p21; UAQTL5 (614746), associated with a SNP on chromosome 19q13; and UAQTL6 (614747), associated with a SNP on chromosome 1. Mapping The Pacific Austronesian population, including Taiwanese aborigines, has a remarkably high prevalence of hyperuricemia and gout, suggesting a founder effect across the Pacific region. ... Pathogenesis Martinon et al. (2006) showed that monosodium urate (MSU) and calcium pyrophosphate dihydrate (CPPD), both crystals found in gout, engage the caspase-1 (CASP1; 147678)-activating NALP3 (606416) inflammasome, resulting in the production of active interleukin (IL1)-1-beta (IL1B; 147720) and IL18 (IL18; 600953). ... Evidence for both an increased rate of uric acid synthesis and an impaired net elimination of uric acid by the kidney has been advanced. ... Genomewide Association Studies Kottgen et al. (2013) reported the identification and replication of 28 genomewide-significant urate concentration-associated loci, 18 of which were novel, using genomewide association study (GWAS) (26 loci) and pathway (2 loci) approaches. ... 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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Neuroendocrine Tumor
GARD
A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells . ... 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. However, some NETs are associated with a hereditary cancer or tumor syndrome such as multiple endocrine neoplasia type 1 (most commonly), Von Hippel-Lindau disease , tuberous sclerosis , or neurofibromatosis type 1 (NF1).
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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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Malaria
Wikipedia
The sporozoites are injected into the skin, in the saliva, when the mosquito takes a subsequent blood meal. [28] Only female mosquitoes feed on blood; male mosquitoes feed on plant nectar and do not transmit the disease. ... 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 .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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Esophageal Food Bolus Obstruction
Wikipedia
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. ... Forceps used for biopsies can also be employed in a similar manner. [18] References [ edit ] ^ a b c Stadler, J.; A. ... "Oesophageal foreign bodies" . British Medical Journal . 1 (5957): 561–3. doi : 10.1136/bmj.1.5957.561 . ... The British Journal of Surgery . 65 (1): 5–9. doi : 10.1002/bjs.1800650103 . ... Archives of Surgery . 105 (5): 790–1. doi : 10.1001/archsurg.1972.04180110107028 .
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West Nile Fever
Wikipedia
West Nile fever West Nile virus Specialty Infectious disease Symptoms None, fever , headache, vomiting or diarrhea and muscle aches rash [1] Complications Encephalitis , meningitis [1] Usual onset 2 to 14 days after exposure [1] Duration Weeks to months [1] Causes West Nile virus spread by mosquito [1] Diagnostic method Based on symptoms and blood tests [1] Prevention Reducing mosquitoes, preventing mosquito bites [1] Treatment Supportive care (pain medication) [1] Prognosis 10% risk of death among those seriously affected [1] West Nile fever is an infection by the West Nile virus , which is typically spread by mosquitoes . [1] In about 80% of infections people have few or no symptoms . [2] About 20% of people develop a fever , headache, vomiting, or a rash. [1] In less than 1% of people, encephalitis or meningitis occurs, with associated neck stiffness, confusion, or seizures. [1] Recovery may take weeks to months. [1] The risk of death among those in whom the nervous system is affected is about 10%. [1] West Nile virus (WNV) is usually spread by mosquitoes that become infected when they feed on infected birds, which often carry the disease . [1] Rarely the virus is spread through blood transfusions, organ transplants, or from mother to baby during pregnancy, delivery, or breastfeeding, [1] but it otherwise does not spread directly between people. [3] Risks for severe disease include being over 60 years old and having other health problems. [1] Diagnosis is typically based on symptoms and blood tests. [1] There is no human vaccine . [1] The best way to reduce the risk of infection is to avoid mosquito bites. [1] Mosquito populations may be reduced by eliminating standing pools of water, such as in old tires, buckets, gutters, and swimming pools. [1] When mosquitoes cannot be avoided, mosquito repellent , window screens , and mosquito nets reduce the likelihood of being bitten. [1] [3] There is no specific treatment for the disease; pain medications may reduce symptoms. [1] The virus was discovered in Uganda in 1937, and was first detected in North America in 1999. [1] [3] WNV has occurred in Europe, Africa, Asia, Australia, and North America. [1] In the United States thousands of cases are reported a year, with most occurring in August and September. [4] It can occur in outbreaks of disease. [3] Severe disease may also occur in horses, for which a vaccine is available. [3] A surveillance system in birds is useful for early detection of a potential human outbreak. [3] Contents 1 Signs and symptoms 2 Cause 2.1 Virology 2.2 Transmission 2.2.1 Vertical transmission 2.3 Risk factors 3 Diagnosis 3.1 Differential diagnosis 4 Prevention 4.1 Monitoring and control 5 Treatment 6 Prognosis 7 Epidemiology 7.1 Weather 8 Research 9 References 10 External links Signs and symptoms [ edit ] About 80% of those infected with West Nile virus (WNV) show no symptoms and go unreported. [5] About 20% of infected people develop symptoms. ... July 2011. Archived from the original on 18 October 2017 . Retrieved 28 October 2017 . ^ "Final Cumulative Maps and Data | West Nile Virus | CDC" . www.cdc.gov . 24 October 2017. ... Journal of Comparative Pathology . 155 (1): S75–S97. doi : 10.1016/j.jcpa.2015.08.003 . ... Journal of Experimental Medicine . 203 (1): 35–40. doi : 10.1084/jem.20051970 . ... Vector-Borne and Zoonotic Diseases . 7 (1): 76–85. doi : 10.1089/vbz.2006.0562 .CCR5, ERVK-32, ROBO3, MAVS, DDX58, PLAAT4, IFIT2, ERVK-6, STAT1, SPP1, OAS1, IL1B, IFNB1, RNASEL, CASP8, HLA-DRB1, PELI1, SELENBP1, ARHGEF2, LRRFIP1, NAMPT, TRAIP, RIPK3, SEC14L2, CSF1R, LAMP3, ERVW-1, FOXP3, ZMYND10, DDX56, CCR7, VCP, CDKN2A, IFIH1, DHX58, ZBP1, HAVCR2, PIK3IP1, NLRP3, TNFRSF13C, TRIM6, RBM45, CCR2, ERVK-20, ERVK-18, VAMP8, TNFRSF1A, IFNA1, TNF, IFNA13, HLA-DQA1, IL1A, HLA-C, IL10, IL17A, IL18, IRF3, IRF5, KIR2DL2, KIR3DL1, KIR3DS1, LSAMP, CD180, SMAD4, MMP9, HLA-A, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PZP, GLS, CASP1, SNCA, GEM, DDX3X, TAP1, TLR3, ATF4
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Leishmaniasis
Wikipedia
Expert Review of Anti-Infective Therapy . 11 (1): 79–98. doi : 10.1586/eri.12.148 . ... Leishmania: After The Genome . 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). ... Medical and Veterinary Entomology . 17 (1): 1–18. doi : 10.1046/j.1365-2915.2003.00420.x . ... PLOS Neglected Tropical Diseases . 4 (1): e585. doi : 10.1371/journal.pntd.0000585 . ... Social Sciences and Missions . 30 (1–2): 30–43. doi : 10.1163/18748945-03001001 .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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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. ... 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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Monomac
Wikipedia
Not to be confused with the .Net bindings MonoMac. monoMAC syndrome Other names MonoMAC/DCML, monocytopenia and mycobacterium avium complex/dendritic cell, monocyte, B and NK lymphocyte deficiency Specialty Medical genetics MonoMAC syndrome is a rare autosomal dominant syndrome associated with: monocytopenia , B and NK cell lymphopenia ; mycobacterial, viral, fungal, and bacterial opportunistic infections ; and virus infection-induced cancers . ... MonoMAC is a life-threatening and precancerous disorder . [1] [2] Inactivating mutations in one of the two parental GATA2 genes is responsible for the many diverse presentations of a genetic disorder that groups these presentations together into a single disease termed GATA2 deficiency . ... In addition to this, however, MonoMAC-afflicted individuals often show one or more signs and symptoms of other GATA2 presentations . [3] [4] MonoMAC was first described by Vihn and colleagues in 2010 as an autosomal dominant familial disease. [5] One year later, Dickinson and colleagues discovered that the MonoMAC disorder in four individuals was associated with any one of four different mutations in the GATA2 gene. [6] Subsequent studies identified numerous other GATA2 gene mutations that are associated with the development of MonoMAC, showed that these mutations inactivated or were considered likely to inactivate one of two parental GATA2 genes, and found that essentially all individuals with MonoMAC had one of the mutations known or considered to inactivate GATA2 . [3] Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References Signs and symptoms [ edit ] This syndrome is characterized by an increased susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses , and fungal infections, primarily histoplasmosis, and molds. ... Last, patients may develop autoimmune phenomena, including lupus like syndromes, primary biliary cirrhosis or aggressive multiple sclerosis . [ citation needed ] Of the 26, now 28, patients probably afflicted by this syndrome, 48% died of causes ranging from cancer to myelodysplasia with a mean age at death of 34.7 years and median age of 36.5 years. Clinical features and complications of the syndrome Clinical feature Overall (%) Autosomal dominant patients (%) Sporadic patients (%) Infection Mycobacteria 78 86 73 HPV 78 86 73 Fungi 28 43 18 Complication PAP 33 29 36 Panniculitis/erythema nodosum 33 29 36 Myelodiysplasia/acute myeloid leukemia 50 71 36 Death 28 43 18 Genetics [ edit ] 12 distinct mutations in the GATA2 gene have been identified.
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Alzheimer Disease 18
OMIM
A number sign (#) is used with this entry because of evidence that susceptibility to the development of late-onset Alzheimer disease-18 (AD18) is conferred by heterozygous mutation in the ADAM10 gene (602192) on chromosome 15q21. ... These findings suggested either incomplete penetrance or the involvement of additional factors. Combining both mutations to 1 aggregate genotype showed an association with AD across both samples (p = 0.0186), but a nonsignificant p value of 0.212 after exclusion of the probands initially selected for sequencing. ... Q170H and R181G mutant mice showed significant attenuation of APP processing compared to wildtype, with a decrease in APP-CTF-alpha levels and an increase in sAPP-beta levels, indicating that the mutations attenuated Adam10 alpha-secretase activity on APP. Crossing these Adam10 mutant mice with the Tg2576 AD mouse model showed that the Adam10 mutations increased amyloidogenic APP processing, as manifest by a shift from the alpha-secretase to the amyloidogenic beta-secretase pathway. ... Collectively, these findings suggested that diminished alpha-secretase activity of ADAM10 on APP resulting from mutations in the ADAM10 prodomain can cause AD-related pathology.
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Mosquito-Borne Disease
Wikipedia
Retrieved 2017-09-16 . ^ Susannah F Locke (1 December 2008). "Bug vs Bug: How do mosquitoes survive deadly viruses unscathed?" ... "Emerging arboviruses: Why today?" . One Health . 4 : 1–13. doi : 10.1016/j.onehlt.2017.06.001 . ... PMID 28785601 . ^ Strode, Clare; Donegan, Sarah; Garner, Paul; Enayati, Ahmad Ali; Hemingway, Janet (2014-03-18). "The Impact of Pyrethroid Resistance on the Efficacy of Insecticide-Treated Bed Nets against African Anopheline Mosquitoes: Systematic Review and Meta-Analysis" . ... The Journal of Spinal Cord Medicine . 35 (1): 9–21. doi : 10.1179/2045772311Y.0000000042 . ... Transactions of the Royal Society of Tropical Medicine and Hygiene . 87 (1): 103–105. doi : 10.1016/0035-9203(93)90444-u .
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Body Inflation
Wikipedia
One of the best-known examples is Mr. Blowup, [1] who appears in the Deviant Desires book. [2] He wears air-inflated double-skinned latex suits, and has made a number of TV appearances in the UK, including Eurotrash . [3] Sometimes the body is actually inflated also, such as by enema or drinking large amounts of liquid. ... Deviant Desires: Incredibly Strange Sex . Juno Books. pp. 95–103. ISBN 1-890451-03-7 . ^ More proof that the Net's a weird place: A new book assembles strange Web sites. , The Globe and Mail , 27 April 2000, page R7 ^ The Juicy, Round World of Blueberry Porn ^ a b Allerhand, Rhalou (2008). ... Archived from the original on 2010-12-18. Listen to this article (1.6 megabytes) This audio file was created from a revision of this article dated 5 April 2020 ( 2020-04-05 ) , and does not reflect subsequent edits. ( Audio help · More spoken articles ) v t e Sexual fetishism Actions, states Aquaphilia Autassassinophilia Coprophilia Cuckold / Cuckquean Emetophilia Erotic hypnosis Erotic lactation Erotic spanking Exhibitionism Forced seduction Gaining and feeding Medical fetishism Omorashi Paraphilic infantilism (adult baby) Pregnancy Smoking Tickling Total enclosure Transvestic Tightlacing Tamakeri Urolagnia Vorarephilia Wet and messy fetishism Body parts Armpit Breast Belly Buttocks Eyeball Fat Feet Hands Height Hair Legs Navels Noses Clothing Boots Ballet boots Boot worship Thigh-high boots Clothing Corset Diapers Gloves Pantyhose Latex Rubber and PVC Shoes Spandex Underwear Uniforms Objects Balloons Dolls Latex and PVC Robots Spandex Controversial / illegal Lust murder Necrophilia Rape fantasy Zoophilia Culture / media Artists Fetish art Fetish clubs Fashion Magazines Models Race Asian sexual fetishism Ethnic pornography Sexual racism Related topics BDSM FetLife International Fetish Day Kink Leather subculture Leather Pride flag Sexual roleplay Book Category
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Zika Fever
Wikipedia
Journal of Global Infectious Diseases . 8 (1): 3–15. doi : 10.4103/0974-777X.176140 . ... BMC Medicine . 14 (1): 112. doi : 10.1186/s12916-016-0660-0 . ... Walter Reed Biosystematics Unit. Archived from the original on 28 January 2016 . Retrieved 1 February 2016 . ^ Grard, G; Caron, M; Mombo, I M; Nkoghe, D; Ondo, S M; Jiolle, D; Fontenille, D; Paupy, C; Leroy, E M (2014). ... Morbidity and Mortality Weekly Report . 65 (18): 474. 13 May 2016. doi : 10.15585/mmwr.mm6518e1 . ... Journal of Clinical Virology . 43 (1): 96–101. doi : 10.1016/j.jcv.2008.05.005 .ERVK-32, RAF1, IVNS1ABP, PTPN11, ERVK-6, IFNA1, IFNA13, STAT2, IFNAR1, IFNAR2, AXL, IL1B, TNF, DDX58, PLAAT4, ROBO3, RSAD2, IFNL1, KRAS, TP53, IFNB1, HPR, IL6, ALB, IFNL2, NLRP3, STAT1, CD40LG, TAM, TLR3, CD14, CXCL10, STING1, SMPD3, HSPA4, G3BP1, IRF3, HMOX1, ITPA, PERCC1, ERVK-20, GAPDH, IFIH1, FGF2, ERVW-1, ISG15, ZBP1, CH25H, NTPCR, PARP1, WWTR1, PHGDH, KPNA6, CEP131, RASSF1, HAVCR1, TUBB3, RIPK3, IFITM3, HSP90B1, TXN, TYRO3, MOGS, RIPK1, GNE, SART3, B3GAT1, ALDH5A1, PPIP5K1, ARTN, NR1I2, FOXD3, PAF1, AGO2, APOBEC3C, EDC3, MAP1LC3B, TRIM56, MFSD2A, SLFN11, NEURL3, TWIST2, TRIM69, WIPF2, TICAM1, MIR34A, MIR34C, CD24, LINC01672, ERVK-18, ZC3H12A, PARP12, TRPV4, SMOX, C19orf53, F11R, CHCHD2, ISYNA1, PHAX, XRN1, DDIT4, MIB1, TFAP2A, ATG16L1, VAC14, PARD3, MAVS, NUFIP2, TFRC, ADAR, TAC3, EIF4G1, EIF5A, EPHB2, EZH2, F3, FCGR3A, FCGR3B, FMR1, GABPA, GDNF, CXCL2, PDIA3, HLA-E, HNRNPA2B1, HNRNPD, IFI16, IFIT1, IFNGR1, EIF4G2, SARDH, STAT5B, DHX9, AP2A1, AGRP, ATF4, ATM, BCL2, BMP6, CASP1, CASP3, CAT, CD48, CHML, COL11A2, CSF2, CUX1, DCX, DDX3X, DDX6, IFNR, IL1A, IDO1, INSR, PIK3CD, PIK3CG, MAPK1, UPF1, RPE, SAT1, SRL, CCL2, ADM, CCL8, CXCL11, SELP, SOAT1, SOD2, SOX2, STAT3, STAT5A, PIK3CB, PIK3CA, PDB1, MDM2, INSRR, IRF1, LAMP1, LAMC2, LCN2, LTBR, CAPRIN1, CXCL9, PCM1, MAP3K11, MS, MSI1, MSX1, NFE2L2, OAS3, PAX7, CCL5
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Appendix Cancer
Wikipedia
A carcinoid is a neuroendocrine tumor (NET) of the intestines. Incidence rates among carcinoids occur at about .15 per 100,000 per year. ... Carcinoids that were not identified as malignant were not included in this data. [18] Carcinoid is found in roughly 1 in 300-400 appendectomies for acute appendicitis . [19] In a systematic literature review where 4765 appendiceal cancer patients were identified, the incidences of appendiceal cancer were shown to have increased regardless of the type of tumor, age, sex, and stage of appendiceal cancer. [12] Roughly 75% of appendiceal cases listed in the review had some form of metastases occurring. ... World Journal of Emergency Surgery . 12 (1). doi : 10.1186/s13017-017-0122-9 . ^ Hajjar, Roy; Dubé, Pierre; Mitchell, Andrew; Sidéris, Lucas (2019). ... "Appendix - Other tumors - Mucinous neoplasms (LAMN and HAMN)" . Topic Completed: 1 October 2017. Revised: 11 December 2019 ^ Griniatsos, J; Michail, O (2010). ... Archived from the original (PDF) on 2014-05-18 . Retrieved 2014-05-18 . McGory, Marcia L.; Maggard, Melinda A.; Kang, Hakjung; O'Connell, Jessica B.; et al. (2005).
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Pseudohypoaldosteronism, Type Iid
OMIM
They had a mean potassium at time of diagnosis of 6.8 +/- 0.5; mean bicarbonate was 17.6 +/- 1.5; and only 14% had developed hypertension by 18 years of age. Among the patients with dominant mutations, mean age at diagnosis or referral was 24 +/- 18 years, mean potassium 6.2 +/- 0.6 mM, and mean bicarbonate 17.2 +/- 2.5; 17% had hypertension diagnosed by age 18 years. ... Molecular Genetics Boyden et al. (2012) performed exome sequencing of 11 unrelated PHAII index cases without WNK mutations and identified novel KLHL3 mutations comprising 5 alleles in 3 kindreds, all of which cosegregated with the trait. Boyden et al. (2012) identified 1 kindred in which affected members were homozygous for a nonsense mutation (605775.0001), 1 in which affected members are compound heterozygous for 2 missense mutations (605775.0002, 605775.0003), and 1 segregating a heterozygous missense mutation (605775.0004). ... In these kindreds, affected members were confined to sibs of index cases who inherited the same 2 mutations, whereas unaffected relatives inherited zero or 1 mutation (lod score 4.3 for a recessive model, less than -2 for other models). ... Nine of 16 dominant mutations altered 1 of the last 4 amino acids of the 6 'd-a' loops that connect the outermost (d) beta-strand of 1 kelch propeller blade to the innermost (a) beta-strand of the next blade. ... In a 3-generation French family with hyperkalemic hypertension, Louis-Dit-Picard et al. (2012) performed whole-exome sequencing in 1 unaffected and 3 affected family members and identified a heterozygous missense mutation in the KLHL3 gene (R528H; 605775.0004) that segregated with disease.
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Mutyh Polyposis
GeneReviews
More detailed information for clinicians ordering genetic tests can be found here. Table 1. Germline Molecular Genetic Testing Used in MUTYH Polyposis View in own window Gene 1 Method Proportion of Pathogenic Variants 2 Detectable by Method MUTYH Sequence analysis 3 ~99% 4 Gene-targeted deletion/duplication analysis 5 See footnote 6 1. ... Cancer Risks in Individuals with MUTYH Polyposis Compared to the General Population View in own window Cancer Type General Population Risk 1 Risk Associated with MAP 2 Median Age of Onset Colorectal 5.5% 43%-63% by age 60 yrs; 80%-90% lifetime risk w/out surveillance 48 yrs Duodenal <0.3% 4% 61 yrs Ovarian 1.3% 6%-14% 51 yrs Bladder 1%-4% 6%-8% in females; 6%-25% in males 61 yrs Breast 12% 12%-25% 53 yrs Endometrial 2.9% ~3% 51 yrs Gastric <0.7%-1% 1% 38 yrs Pancreatic 1.6% See footnote 3 Skin ~20% 4 See footnote 3 Thyroid 0.6%-1.8% See footnote 3 1. ... Two of 15 probands with familial NET of the small intestine and four of 215 individuals with nonfamilial NET of the small intestine were heterozygous for MUTYH pathogenic variant p.Gly396Asp [Dumanski et al 2017]. It is unclear if a heterozygous MUTYH pathogenic variant is a risk factor for NET or ACC, as the risk of NET or ACC in individuals with biallelic MUTYH pathogenic variants appears to be quite low. ... Using these figures, the prevalence of 1:20,000 to 1:60,000 for persons with biallelic germline MUTYH pathogenic variants can be derived.
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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.
