Variant alleles in factor V, prothrombin, plasminogen activator inhibitor-1, methylenetetrahydrofolate reductase and risk of thromboembolism in metastatic colorectal cancer patients treated with first-line chemotherapy plus bevacizumab

2016 ◽  
Vol 17 (4) ◽  
pp. 331-336 ◽  
Author(s):  
F S Falvella ◽  
C Cremolini ◽  
R Miceli ◽  
F Nichetti ◽  
S Cheli ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Plasminogen Activator Inhibitor ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
First Line ◽  
Variant Alleles ◽  
Colorectal Cancer Patients ◽  
Activator Inhibitor ◽  
Line Chemotherapy

scholarly journals The Impact of the Gene Variants FV Leiden, FII G20210A, MTHFR C677T and PAI-1 4G/5G on Pregnancy Loss in Women from Central Serbia

2020 ◽  
Vol 21 (1) ◽  
pp. 19-25
Author(s):  
Gordana M. Sosic ◽  
Snezana Sretenovic ◽  
Danijela Radivojevic ◽  
Nikola Jovic ◽  
Mirjana Varjacic
Keyword(s):  
Plasminogen Activator ◽  
Pregnancy Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Plasminogen Activator Inhibitor ◽  
Gene Variants ◽  
Plasminogen Activator Inhibitor 1 ◽  
Inherited Thrombophilia ◽  
Factor Ii ◽  
The Impact ◽  
Activator Inhibitor

AbstractThrombophilia is a condition of enhanced functionality of the haemostatic system with an increased tendency for thrombosis, and it can be a congenital, acquired, or complex defect. Pregnancy can be the cause of acquired transitory thrombophilia, which may lead to complications if inherited thrombophilia is also present.The aim of this study was to determine the genetic structure of the population based on the frequency of the gene variants factor V Leiden G1691A, factor II G20210A, methylenetetrahydrofolate reductase C677T, and plasminogen activator inhibitor-1 4G/5G, as well as to investigate the predictive value of these gene variants in repeated miscarriages.The study included 87 female patients from Central Serbia with an average age of 32.7±4.5 years with inherited thrombophilia and previous miscarriages, with or without intrauterine foetal death. The exclusion criteria included the existence of gynaecological and infectious aetiology and the deficit of factors important for the coagulation process.The resulting genotypes were in Hardy-Weinberg equilibrium. The frequency of genotypes with mutated alleles was significantly higher in this group of patients than in the control group for all variants except factor II G20210A. The most commonly mutated alleles were the plasminogen activator inhibitor-1 4G allele (0.61) and methylenetetrahydrofolate reductase T allele (0.47). Double mutation of plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T was dominant in patients with recurrent pregnancy loss (46.15%).The presence of a combination of genetic variants of the plasminogen activator inhibitor-1 4G/5G and methylenetetrahydrofolate reductase C677T is a significant predictor of spontaneous abortions in women with inherited thrombophilia in Central Serbia.

scholarly journals P-272 Sarcopenia in metastatic colorectal cancer patients during first-line chemotherapy

2020 ◽  
Vol 31 ◽  
pp. S178
Author(s):  
C. Maddalena ◽  
A. Ponsiglione ◽  
L. Camera ◽  
L. Santarpia ◽  
F. Pasanisi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Metastatic Colorectal Cancer ◽  
Cancer Patients ◽  
First Line ◽  
Colorectal Cancer Patients ◽  
Line Chemotherapy

scholarly journals Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Lisa Giovannini ◽  
Carlo Donadio
Keyword(s):  
Renal Function ◽  
Methylenetetrahydrofolate Reductase ◽  
Kidney Biopsy ◽  
Clinical Signs ◽  
Plasminogen Activator Inhibitor ◽  
Plasminogen Activator Inhibitor 1 ◽  
Case Presentation ◽  
Previous Diagnosis ◽  
Prothrombin Gene ◽  
Activator Inhibitor

Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. After five years from biopsy, 24-hours proteinuria was still around 1–1.3 g/die; renal function was still normal (eGFR 107 ml/min/1.73 m2). These data are against the previous diagnosis of primary FSGS. We hypothesize that genetic thrombophilia may explain all the clinical signs of our patient.Conclusions. Alterations in genes of thrombophilia should be ruled out in patients with bioptic diagnosis of “primary” FSGS, in particular if clinically atypical.

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