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Homozygous MTHFR C677T carriers develop idiopathic portal vein thrombosis 20 years earlier than wild type.
Blood Coagul Fibrinolysis
June 2024
Department of Medicine and Health Sciences 'V. Tiberio', University of Molise, Campobasso, Italy.
The aim of this study was to evaluate the impact of methylene tetrahydrofolate reductase (MTHFR) rs1801133 (C→T667 transition) on age at first idiopathic portal vein thrombosis (PVT) and to identify clinical and/or laboratory variables influencing age at first PVT, including plasma homocysteine and the prothrombin rs1799963 PT (G→A transition at position 20210) (PT) mutation. A retrospective cross-sectional cohort, including 15 MTHFR TT, 32 MTHFR TC and 22 MTHFR CC idiopathic PVT participants contributing demographics, age at PVT, plasma concentrations of homocysteine and of natural anticoagulants. MTHFR TT carriers presented with a lower age at PVT than heterozygous or wild-type genotypes (31 ± 8 vs.
View Article and Find Full Text PDFHomozygous methylentetrahydrofolate reductase C667T genotype anticipates age at venous thromboembolism by one decade.
Blood Coagul Fibrinolysis
September 2021
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia.
The aim of the study was to compare age at first venous thromboembolism (VTE), plasma homocysteine and activated partial thromboplastin time ratio (aPTTr) amongst unprovoked VTE patients with the methylentetrahydrofolate reductase (MTHFR) C667T genotypes, and to identify predictors of age at first VTE, of plasma homocysteine and of the aPTTr; to evaluate whether heterozygous or homozygous prothrombin (PT) G20210A mutation lowered the age at first VTE when associated with MTHFR TT. Retrospective cohort study on 259 MTHFR TT, 76 MTHFR TC and 64 MTHFR CC participants with unprovoked VTE; each participant contributed age, sex, age at VTE, history of dyslipidaemia, hypertension, smoking, homocysteine (measured by enzyme immunoassay) and aPTTr (measured by standard coagulation assay). Age at first VTE was lower in MTHFR TT than MTHFR TC and CC (41 ± 14 vs.
View Article and Find Full Text PDFValidity of Coagulation Activation Markers in Antiphospholipid Syndrome: A Systematic Review and Meta-analysis with a Short Data Report.
Semin Thromb Hemost
July 2019
Haemostasis Unit, AORN "San Giuseppe Moscati," Avellino, Italy.
Prothrombin fragment F1 + 2 (F1 + 2) and thrombin-antithrombin (TAT) have been assessed in antiphospholipid syndrome (APS) but without evaluating a direct relationship with antiphospholipid (aPL) antibody titers. This article aims to investigate a direct relationship between aPL and F1 + 2 and perform a systematic review and meta-analysis of F1 + 2 and TAT in APS. Systematic search was performed using EMBASE and PubMed databases from January 1982 to December 2018 and random effects meta-analyses for continuous outcomes.
View Article and Find Full Text PDFFactor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy.
Hum Genome Var
November 2017
Atherosclerosis and Thrombosis Unit, I.R.C.C.S. 'Casa Sollievo della Sofferenza', San Giovanni Rotondo (Foggia), Italy.
This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified during routine or presurgery examinations or after a laboratory assessment of a bleeding episode.
View Article and Find Full Text PDFProthrombin Molise I: documentation of a second incidence of replacement of a critical Arg near the active site.
Thromb Res
November 1995
Department of Biochemistry, University of Texas Health Center at Tyler 75710, USA.
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