Ischemic stroke is a rare event in childhood. In approximately one third of cases no obvious underlying cause or disorder can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for spontaneous ischemic stroke in children. One hundred forty-eight Caucasian infants and children (aged 0.5 to 16 years) wi...

The inherited thrombophilias--deficiencies of protein C, protein S, and antithrombin III--and the prothrombotic polymorphisms factor V G1691A and factor II G20210A predispose patients toward venous thromboembolism (VTE). The aim of this study was to determine the prevalence of single and combined prothrombotic factors in patients with idiopathic VTE and to estimate the associated risks. The stu...

Ischemic stroke is a rare event in childhood. In approximately one third of cases no obvious underlying cause or disorder can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for spontaneous ischemic stroke in children. One hundred forty-eight Caucasian infants and children (aged 0.5 to 16 years) wi...

Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A m...

Background Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. Methods A total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with...

background: recurrent pregnancy loss (rpl) caused by various genetic and non-genetic factors. after chromosome abnormality, thrombophilia is one of the most important genetic factors that could cause rpl. factor v leiden and factor ii g20210a mutation were the most common mutations cause thrombophilia in the world. objective: the purpose of this study was to determine the frequency of factor v ...

A recently described genetic variant of the prothrombin gene (G to A transition at nucleotide position 20210) is associated with an increased risk of venous thrombosis (1). The 20210A prothrombin allele may precipitate cerebral ischemia or myocardial infarction in young patients with known prothrombotic abnormalities (2, 3). Similarly, it has been demonstrated that factor V Leiden further incre...

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy Ausência de associação entre o polimorfismo G20210A (rs1799963) da protrombina e epilepsia mioclônica juvenil João Paulo Lopes Born1, Bruna Priscila dos Santos1, Rodrigo Secolin2, Fernando Tenório Gameleira3, Tiago Gomes de Andrade3, Luciana Cláudia Herculano Machado4, Lívia Leite Góes Gitaí5, Dan...

AbstractIntroduction Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterised by recurrent thrombotic events, pregnancy loss and thrombocytopenia the presence of antiphospholipid antibodies (APL). The exact pathomechanism APS still unknown, thus we investigated effect anti-β2-glycoprotein I (anti-β2GPI) on thrombin generation in diff...