Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults.

INTRODUCTION: Several recent studies have analyzed a possible effect of thrombophilia risk factors such as factor V Leiden, the prothrombin variant (allele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS). In the present study, we determined the role of these prothrombotic polymorphisms in the early onset of arterial IS or cerebral venous thrombosis (CVT) in a group of young Brazilian adults of Caucasian and African descent. MATERIALS AND METHODS: We conducted a cross-sectional study of 167 survivors of IS (153 patients with arterial IS and 14 cases of CVT; 66 men: 101 women; 124 of Caucasian and 43 of African origin; median age: 32.6 years; range: 15 to 45 years) and compared the prevalence of inherited thrombophilia risk factors with a control group of 225 sex and age matched individuals of the same ethnic background. To determine the interaction with atherogenic risk factors, the following diagnoses were considered: hypertension, hyperlipoproteinemia, diabetes mellitus, smoking status and use of oral contraceptives. RESULTS: In the arterial IS group, no significant variation was found between patients and controls of Caucasian origin regarding the prevalence of factor V Leiden (P = 0.92), the prothrombin variant (P = 0.13) or homozygosity for MTHFR-T (P = 0.61). Among Brazilians of African descent, 10.3% were homozygous for MTHFR-T, which was significantly elevated, odds ratio of 5.9 (95% CI: 0.88 to 49.15). In the CVT group, two Caucasian patients (20%) were heterozygous for the prothrombin variant, odds ratio of 9.7 (95% CI: 0.95 to 89.71) and one patient was carrier of factor V Leiden (P = 0.49). No prothrombotic polymorphism was identified in patients with CVT of African descent. All women in the CVT group were in use of oral contraceptives or in the post-partum state. DISCUSSION: Inherited thrombophilia risk factors were not found to increase the risk of arterial IS among young patients of Caucasian descent. However, a potential role of homozygosity for MTHFR-T was observed in a small group of patients of African origin. The analysis of patients with CVT revealed an increased risk due to the prothrombin gene variant or oral contraceptive use. Further studies including all incoming patients with IS are necessary to evaluate the impact of inherited thrombophilia risk factors on early mortality.

Ischemic lesion volumes in acute stroke by diffusion-weighted magnetic resonance imaging correlate with clinical outcome.

Diffusion-weighted magnetic resonance imaging detects ischemic injury within minutes after onset, and has been used to demonstrate drug efficacy in animal models of stroke. In 50 patients diagnosed with acute ischemic stroke (<24-hour duration) within the middle cerebral artery territory, lesion volume was measured by diffusion-weighted imaging. Thirty-four patients also had volumes measured by T2-weighted imaging chronically (median time, 7.5 weeks; mean, 15.9 weeks). Clinical severity was measured by the National Institutes of Health Stroke Scale Score and the Barthel index. Acute lesion volumes correlated with the acute stroke scale score (r = 0.56), the chronic stroke scale score (r = 0.63), and chronic lesion volumes (r = 0.84). Chronic volumes correlated with the chronic stroke scale score (r = 0.86) and the Barthel index (r = -0.60). When only cortically based lesions were considered, the correlations relating acute lesion volume measured by diffusion-weighted imaging (r = 0.61) and chronic lesion volume measured by T2-weighted imaging (r = 0.90) to the chronic stroke scale score were higher. These results provide evidence that lesion volumes determined by diffusion-weighted imaging acutely may be predictive of clinical severity and outcome, and may support a role for diffusion-weighted imaging in the assessment of acute stroke therapies in clinical trials.

Epilepsias recém-diagnosticadas: aderência, tolerância e prognóstico com a primeira droga / Recently diagnosed epilepsy: adherence, tolerance, and prognostic with the first drug

Há poucos dados no nosso meio sobre epilepsias recém-diagnosticadas (ERD). Com o objetivo de avaliar a aderência, a tolerância e a eficácia da primeira droga antiepiléptica receitada, seguimos 78 pacientes de 6 a 61 anos de idade (média: 17.96 anos) com ERD por um tempo médio de 12.68 meses (1 a 29 meses). Estes pacientes apresentavam crises parciais, com ou sem generalizaçäo secundária, e crises generalizadas tônico-clônicas com um tempo médio de epilepsia de 7.68 meses (4 dias a 7 anos). Encontramos 11 pacientes (14.10 por cento ) näo aderentes ao tratamento e 14 (17,94 por cento ) com efeitos colaterais que justificaram a troca da medicaçäo. Os efeitos colaterais mais prevalentes foram alteraçöes dismórficas como hirsutismo e hiperplasia gengival, síndrome dispéptica, reaçöes idiossincrásicas e sedaçäo. Sessenta e seis por cento dos pacientes mantiveram-se completamente controlados por um período de 8 semanas e 63.88 por cento por 56 semanas. Estes dados säo consistentes com os achados da literatura internacional. A taxa de näo aderência ao tratamento foi relativamente alta (14,10 por cento ), possivelmente devido aos aspectos sócio-econômicos e culturais da populaçäo estudada. Ressaltamos que 17,94 por cento dos pacientes näo toleraram a primeira droga, necessitando de substituiçäo. Aproximadamente 2/3 dos pacientes com ERD obtém controle satisfatório com a primeira medicaçäo