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...

Background Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prot...

BACKGROUND G20210A prothrombin mutation has been associated with high prothrombin levels and an increased risk of venous thrombosis. The role of this common polymorphism, as well as that of prothrombin levels, in determining the risk of arterial disease is still somewhat controversial. METHODS AND RESULTS We determined the prevalence of the G20210A mutation and prothrombin activity in 660 ind...

BACKGROUND AND PURPOSE The mechanisms of ischemic stroke in young adults are poorly understood. During the last years, several studies suggested a role for genetic factors predisposing to thrombophilia and for moderate hyperhomocysteinemia in this setting. METHODS We evaluated in 132 consecutive patients (66 males, 66 females; mean+/-SD age, 38.4+/-11.7 years; mean+/-SD age at first event, 34...