The study here is to estimate the frequency of Prothrombin allelic polymorphisms from randomly selected general population. Prothrombin is a blood-clotting protein, a vitamin K-dependent clotting factor. The gene has a mutation at position 20210, hence the disorder being referred to as Prothrombin mutation 20210. The PT20210 polymorphisms were identified using simple PCR and followed by Restric...

The human prothrombin G20210A polymorphism located at the 3' cleavage site of the mRNA results in elevated plasma prothrombin levels and increased risk of venous thrombosis. This polymorphism has been shown to directly influence a variety of processes related to prothrombin mRNA metabolism. We have constructed plasmids that express the full-length prothrombin mRNA that is polyadenylated at its ...

The C677T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and the G20210A mutation at the 3' untranslated region (3'UTR) of the prothrombin gene may be considered to be genetic risk factors that contribute to the clinical heterogeneity in sickle cell disease. The current study investigated a group of sickle cell (SS) patients from Salvador-Bahia, Northeast Brazil in order to deter...

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...

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...

BACKGROUND AND OBJECTIVES Intrauterine growth restriction is an important cause of morbidity and mortality. Its pathogenesis is still a matter of debate. The aim of this study was to evaluate the association between intrauterine growth restriction (diagnosed in utero by serial ultrasound examinations and characterized by abnormal umbilical arterial Doppler velocimetry) and thrombophilic polymor...

BACKGROUND The prothrombotic effect of combined oral contraceptives (COCs) is well-established, with a 3-6-fold increased risk of VTE compared to non-users. When initiation of COCs is considered, it is therefore of paramount importance to carefully evaluate all other potential risk factors for VTE. Based on a case of life-threatening COC-associated pulmonary embolism in a girl heterozygous for ...

Objective: Major causes of mortality in patients with valvular disease are endocarditis and valve thrombosis. Oral anticoagulant drugs are used to prevent valve thrombosis. Uses of inadequate doses of medication or absence of medication use are the main reasons for the development of valve thrombosis. In addition to medical treatment or surgical treatment of patients with infective endocarditis...

Thrombotic disease of the newborn is uncommon but usually associated with serious morbidity and mortality. Although the operating mechanisms of coagulation and fibrinolysis are the same in all age groups, plasma concentrations of the two systems' components are significantly different in neonates compared to children and adults. This places neonates at greater risk for thrombosis that may rise ...

We carried out a prospective study of 116 patients under 50 years of age who had deep venous thrombosis of the lower extremities to determine whether the presence of congenital anomaly of the inferior vena cava (IVC) was a risk factor for the disease. All patients were investigated by Doppler echography. Some 37 patients who had iliac vein occlusion also underwent phlebography. In 10 patients i...