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Report for Mutation N682S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Clinical Factors Associated With the Development of Severe Sepsis in Patients Being Treated for Acute Myeloid Leukemia

Acute leukemia is a life threatening illness that strikes people of all ages. In addition to surviving the direct effects of the disease, the treatment of leukemia generally requires chemotherapy which has its own burden. Infection is one of the most common secondary problems faced by these patients. Simple infections are common and easily treated with aggressive antibiotics. However, treated progressive infection leads to loss of vital organ function and is termed severe sepsis. Severe sepsis is associated with increased risk of death and the need for specialized care in the intensive care unit. Besides the appropriate use of antibiotics, little is known about what clinical and patient factors are associated with the development of severe sepsis. Recent evidence has suggested that certain practices like frequent transfusion of blood products and control of glucose levels effects outcome in critically ill patients. In addition, there have been advances in our knowledge of certain genes that may predispose people to severe infections. It is possible that these factors are important in people who are not yet critically ill, but are at risk for the development of severe sepsis. This observational study will look at genetic, clinical and therapeutic factors that are associated with the development of severe sepsis. This will help doctors understand what treatments may be helpful in preventing this serious complication.

NCT00806325 Sepsis Acute Myeloid Leukemia
MeSH: Sepsis Toxemia Leukemia Leukemia, Myeloid Leukemia, Myeloid, Acute
HPO: Acute megakaryocytic leukemia Acute myeloid leukemia Leukemia Myeloid leukemia Sepsis

- H2c: In human sepsis, patients with the Asn682Ser polymorphism in the TSP-1 gene will be associated with a higher incidence of lung-injury. --- Asn682Ser ---

- H2d In human sepsis, patients with the Asn682Ser polymorphism in the TSP-1 gene will be associated with a more severe course of lung-injury. --- Asn682Ser ---

Primary Outcomes

Measure: determine the true relationship of hyperglycemia to the development of severe sepsis after chemotherapy for AML

Time: end of study


HPO Nodes


Leukemia
Genes 190
ATM KRAS KIT RPS15A NF1 MPL RPL35A RPL11 RPL18 DDX41 SBDS LPP ETV6 BUB1B F13A1 DNMT3A JAK2 NUP214 FANCD2 MSH6 FANCA PIGL NRAS TCIRG1 BUB1 TET2 FLT3 TAL1 ATRX TREX1 PDGFRA SRP54 RPS29 PTPN11 CALR FANCE WIPF1 SF3B1 GATA2 GLI1 STS SH3GL1 XRCC4 MPL SH2B3 EFL1 PIGA TREM2 CBL MPL RUNX1 MPL PIGL THPO FANCG NSD1 BRD4 NSUN2 SH2B3 RARA GATA2 NPM1 CBL CHIC2 ERBB3 GFI1 TERT KIT BCR ARHGAP26 DYNC2LI1 EVC SCN10A GATA1 ELANE RNASEH2B RPS14 SH2B3 JAK2 RPL15 SBDS NRAS RPL26 RPL27 ADA2 RPS7 TYROBP F13B MSH2 BCR WAS TERC TP53 TRIP13 MYD88 NUTM1 RPS24 GNB1 TP53 DNMT3A TERT NUMA1 NUP214 RPL5 SAMD9L TET2 CFTR POT1 FANCC RPS10 EP300 EVC2 BUB1B CEBPA BRCA2 DNAJC21 CALR SCN9A LIG4 ADAR BLM TET2 JAK2 SMPD1 RNASEH2C SCN11A GATA2 BUB3 PRSS1 KIF11 BCR RPL35 TAL2 SRP54 IFIH1 ABL1 PDGFRB KRAS RNASEH2A TET2 MLLT10 SRP54 DNAJC21 DKC1 RUNX1 APC LIG4 CBFB BLM THPO CALR NBN JAK2 MLH1 RPS19 ELANE SAMD9L RPL31 PMS2 ASXL1 TSR2 MLF1 PIK3CA DNAJC21 RUNX1 GFI1 SRSF2 SETBP1 HAX1 RPS26 RPS17 FLT3 RPS27 PIK3R1 KRAS CEP57 PICALM CREBBP GATA2 CTRC MYD88 TET2 RPS28 ABL1 RB1 SPINK1 GATA1 NBN JAK2 SAMHD1
Acute myeloid leukemia
Genes 50
KIT DDX41 SBDS LPP ETV6 DNMT3A TERT JAK2 NUP214 CEBPA BRCA2 TCIRG1 DNAJC21 TET2 FLT3 TET2 JAK2 SRP54 SF3B1 SRP54 SH3GL1 KRAS EFL1 PIGA MLLT10 SRP54 DNAJC21 DKC1 RUNX1 RUNX1 MPL CBFB NSD1 THPO ELANE NPM1 ASXL1 CHIC2 MLF1 DNAJC21 ERBB3 GFI1 GFI1 SRSF2 KIT PICALM RPS14 GATA2 SBDS TET2
Sepsis
Genes 74
ECE1 TGM1 NRTN BLNK CYBB ATP7A IKZF1 AK2 ALOXE3 CYBA FERMT3 RAG1 NCF1 LIG4 EDN3 CXCR4 PGM3 CD79B COG4 PIK3R1 CHD7 SEMA3C SERAC1 TFRC CYP4F22 SAMD9 FOXP3 WIPF1 MNX1 RET HYOU1 HLA-B MYLK BTK IGHM PLEC DCLRE1C LRRC8A RAG1 RAG2 IL7R ABCA12 CTNNB1 EDNRB IL2RG IL2RG NIPAL4 NCF4 IGLL1 LIPN MYH11 AK2 ITGB4 ADA LMOD1 ELANE SULT2B1 TCF3 CD79A IL7R ALOX12B SEMA3D GALT APC GDNF MMUT SDR9C7 NCF2 RMRP WAS ACTG2 CYBC1 NFKB2 G6PC3
Myeloid leukemia
Genes 20
KIT SETBP1 NF1 ARHGAP26 CBL TET2 KRAS PTPN11 F13A1 SAMD9L SAMD9L GATA2 CBL ASXL1 DNMT3A F13B NRAS SRSF2 TERC TERT