Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism and DNA synthesis. A number of studies have examined the association of MTHFR C677T and A1298C polymorphisms with non-Hodgkin lymphoma (NHL) susceptibility; however, the conclusions were contradictory. We searched available publications assessing the polymorphisms of MTHFR and NHL susceptibility fro...

1. Vilariño JO, Esper R, Badimón JJ. Fisiopatología de los síndromes coronarios agudos. Tres paradigmas para un nuevo dogma. Rev Esp Cardiol. 2004;4:13-24. 2. Andreotti F, Becker RC. Atherothrombotic disorders. New insights from hematology. Circulation. 2005;111:1855-63. 3. Boekholdt SM, Bijsterveld NR, Moons AG, Levi M, Buller HR, Peters RJ. Genetic variation in coagulation and fibrinolytic pr...

Because of the potential implications of results of genetic analyses of thrombophilic mutations, laboratories must undertake stringent internal quality control measures and participate in external quality assurance (QA) programs. A small number of external QA surveys of thrombophilic defects have been conducted across a large number of molecular laboratories and generally have indicated favorab...

The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of β(S)-globin gene haplotypes and co-inheritance with α-thalassemia (-α(3.7kb)) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A)...

Inherited thrombophilia is believed to be a multiple gene disease with more than one defect. We wanted to determine the association between single thrombophilic patterns and a variety of pregnancy diseases. 301 pregnant women were recruited for the present case-control study and were divided into two groups: A group (176 controls) and B group (125 cases). Patients belonging to the B group had o...

OBJECTIVES Ischaemic stroke is a frequent heterogeneous multifactorial disease that is affected by a number of genetic mutations and environmental factors. We hypothesised the clinical importance of the interactions between common, unfavourable genetic mutations and clinical risk factors in the development of ischaemic stroke. METHODS The Factor V Leiden G1691A (Leiden V), the prothrombin G20...

OBJECTIVE There is a growing view that inherited or acquired thrombophilia may predispose a woman towards an adverse pregnancy outcome. The aim of this study was to investigate whether risk factors for placental abruption because of such thrombophilias (such as carriership of factor V Leiden (FVL), prothrombin G20210A gene mutation and homozygous MTHFR C677T) might be used as a predictor for pl...

Risk factors established at young ages may set the stage for later cardiovascular disease (CVD). Elevated total homocysteine (tHcy) in blood is an emerging risk factor for CVD, yet few studies have been conducted in children, especially in the Mediterranean. We described plasma tHcy concentrations in a group of healthy Greek children and examined its relation with physiologic, metabolic, and ge...

1. Schölzel BE, Snijder RJ, Mager JJ, et al. Chronic thromboembolic pulmonary hypertension. Neth Heart J. 2014;22:533–41. 2. Correale M, Montrone D, Lacedonia D, et al. Multiprofessional and intrahospital experience for diagnosis and treatment of pulmonary arterial hypertension. Monaldi Arch Chest Dis. 2012;78:205–9. 3. D’Amato N, Correale M, D’Agostino C. Aortic thrombus and acute pulmonary em...

OBJECTIVE To determine plasma homocysteine levels and the incidence of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in a group of subjects who underwent coronary angiography, in an attempt to establish a correlation between these parameters and the severity of coronary artery disease (CAD), as well as investigate the correlation between hyperhomocysteinemia and the presen...