The C677T mutation of the methylenetetrahydrofolate reductase gene and the G1691A (Leiden) mutation of the factor V gene are established risk factors for thromboembolic disease. We here present an assay for the simultaneous genotyping of these common genetic variants. The assay involves a strategy based on multiplex mutagenically separated PCR performed in a single tube containing six primers. ...

BACKGROUND Ischemic stroke is a frequent heterogeneous multifactorial disease. A number of genetic mutations and environmental factors have been implicated. A polymorphism in the gene for methylenetetrahydrofolate reductase (MTHFR) has been reported to be associated with hyperhomocysteinemia a risk for atherosclerotic vascular diseases. AIM A cross-sectional study was performed to determine t...

Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C...

BACKGROUND Polymorphisms C677T and A1298C of the MTHFR gene have been implicated in fetal viability. In this study, we determined the allele and genotype frequencies of these polymorphisms in different populations, including spontaneous abortion (SA) fetal tissues, with the objective of evaluating their impact on fetal viability. METHODS 342 samples of fetal tissues, selected from SA occurring ...

thrombus (10×18 mm) of aortic isthmus, which led to the diagnosis of acute pulmonary embolism and aortic thrombus. The same gene mutation (C677-T MTHFR) was detected by polymerase chain reaction. Transesophageal echocardiogram after 40 days of warfarin therapy documented the disappearance of aortic thrombus (Figure 2). Recent studies showed that C677T gene polimophism is associated with an incr...

Article history: Received 8 December 2016 Accepted 31 March 2017 Available online 13 April 2017 6 months. Thrombophilia workup revealed a homozygous MTHFR mutation for C677T gene. Nine months after the event, he had a repeat CT angiogram which showed resolution of the filling defect in his LAD and, repeat MRI which showed no wall motion abnormalities (even in the region of scar) and preserved L...

Venous intestinal ischemia is a relatively rare disease, which has some predisposing factor up to 80 % of cases. These factors may be temporary or permanent. Cancer, immobilization, trauma, intraabdominal infections, or oral contraceptives are temporary factors. Paroxysmal nocturnal hemoglobinuria and hypercoagulability states as factor V Leiden, G20210A mutation in prothrombin gene, C677T meth...

In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In th...

Dr. Pedro Beleza – Serviço de Neurologia / Hospital São Marcos Largo Carlos Amarante, Apartado 2242 4701-965 Braga Portugal. E-mail: [email protected] Acute arteriopathies represent 79% of stroke in children. Chickenpox is the primary etiologic agent involved in 60% of cases and usually carries a good prognosis. We report on a patient with multiple transients ischemic attacks (TIA) who presen...