NEU - Artigos publicados em revistas não indexadas
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Browsing NEU - Artigos publicados em revistas não indexadas by Subject "Acidente vascular cerebral"
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- Estudo comparativo de dissecções arteriais extracranianas: série hospitalar de 61 doentesPublication . Simões, R; Biscoito, L; Parreira, E; Pinto, AIntrodução: As dissecções arteriais extracranianas constituem uma causa importante de AVC no individuo jovem. A fisiopatologia e o tratamento adequado não estão estabelecidos assumindo-se semelhantes nas Dissecções da artéria Carótida Interna (DACI) e Dissecções da artéria Vertebral (DAV). Objectivos e Métodos: Estudo retrospectivo de casos consecutivos de DACI e DAV entre Janeiro de 1997 e Dezembro de 2005 no Serviço de Neurologia de um hospital distrital, caracterizando aspectos demográficos, desencadeantes, factores de risco vascular (FRV), apresentação clínica, terapêutica e evolução clínica e imagiológica. Resultados: Foram incluídos 61 doentes (41 DACI, 20 DAV) com 48 + 10 anos. 90% (n=57) apresentaram-se com sinais de isquemia cerebral. 11% (n=6) dos AVC foram precedidos de ATT, o que ocorreu preferencialmente nas DAV (20% vs. 5%, p=0.065) A dor foi tendencialmente mais frequente nas DAV (70% vs. 42%, p=0.087). Em 53% dos casos documentou-se oclusão arterial, mais frequente nas DAV (73% vs. 44%, p=0.062). Não havia diferença entre a frequência dos FRV nas DACI e DAV. Na alta, 40% dos doentes apresentava mRS ≥ 3, sendo estes menos frequentemente hipocoagulados (50% vs. 75%, p=0.043). A recuperação foi total em 25%, não se correlacionando com idade, sexo, localização da dissecção ou terapêutica instituída. A taxa de recanalização arterial foi de 48% superior nas DACI (54% vs. 40%, p=0.529). A persistência de oclusão correlacionava-se com uma menor recuperação clínica (p=0.001). Não foram descritas recorrências. Discussão: Na nossa série, a apresentação clínica e os FRV parecem ser semelhantes ao descrito na literatura; contudo a recuperação funcional e a taxa de repermeabilização arterial foram inferiores. Foram encontradas diferenças entre as DAV e as DACI, na apresentação clínica e comportamento imagiológico, que poderão surgir diferentes sinais de de alarme e abordagens terapêuticas . A interpretação e a comparação dos resultados estão limitadas por se tratar de um estudo retrospectivo, justificando-se a realização de estudos prospectivos multicêntricos.
- Kalirin: a novel genetic risk factor for ischemic strokePublication . Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, J; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, R; Pinto, A; Taipa, R; Ferreira, C; Fontes, J; Silva, M; Gabriel, J; Matos, I; Lopes, G; Ferro, J; Vicente, A; Oliveira, SCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been performed in stroke patients. KALRN is involved, among others, in the inhibition of inducible nitric oxide synthase, in the regulation of ischemic signal transduction, and in neuronal morphogenesis, plasticity, and stability. The goal of the present study was to determine whether SNPs in the KALRN region on 3q13, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls. We genotyped 34 tagging SNPs in the KALRN and ROPN1 chromosomal region on 565 IS patients and 517 unrelated controls, and performed genotype imputation for 405 markers on chromosome 3. We tested the single-marker association of these SNPs with IS. One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed significant (P < 0.05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk. Thirty-two imputed SNPs also showed an association at P < 0.05, and actual genotyping of three of these polymorphisms (rs7620580, rs6438833, and rs11712039) validated their association. Furthermore, rs11712039 was associated with IS (0.001 < P < 0.01) in a recent well-powered genomewide association study (Ikram et al. 2009). These studies suggest that variants in the KALRN gene region constitute risk factors for stroke and that KALRN may represent a common risk factor for vascular diseases.
- Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patientsPublication . Baptista, V; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, V; Carmona, C; Silva, F; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, A; Leitão, A; Gabriel, J; Calado, S; Oliveira, J; Ferro, JBACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admitted into any of 12 neurology hospital departments in Portugal, were prospectively enrolled (n=625). Ischemic stroke was classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Alpha-galactosidase activity was further assayed in all patients with GLA mutations. RESULTS: Four hundred ninety-three patients (mean age, 45.4 years; 61% male) underwent genetic analyses: 364 with ischemic stroke, 89 with intracerebral hemorrhage, 26 with subarachnoid hemorrhage, and 14 with cerebral venous thrombosis. Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). Leukocyte alpha-galactosidase activity was subnormal in the hemizygous males and subnormal or low-normal in the heterozygous females. Estimated prevalence of missense GLA mutations was 2.4% (95% CI, 1.3% to 4.1%). CONCLUSIONS: Despite a low diagnostic yield, screening for GLA mutations should probably be considered in different types of stroke. Restricting investigation to patients with cryptogenic stroke may underestimate the true prevalence of Fabry disease in young patients with stroke.