Browsing by Author "Fontes, JR"
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- Cerebral venous thrombosis in a patient with localised sclerodermaPublication . Rocha, J; Pinho, J; Fernandes, J; Ferreira, C; Macedo, C; Fontes, JR; Perdigão, S
- Intravenous thrombolysis is more effective in ischemic cardioembolic strokes than in non-cardioembolic?Publication . Rocha, S; Pires, A; Gomes, J; Sousa, F; Pinho, J; Rodrigues, M; Ferreira, C; Machado, A; Maré, R; Fontes, JRIt was suggested that intravenous thrombolysis (IT) leads to larger extent recanalization in cardioembolic stroke. In this work we assess if this has beneficial clinical traduction. METHOD: We evaluated 177 patients undergoing IT, which were categorized into cardioembolic (CE) and non-cardioembolic (NCE). National Institutes of Health Stroke Scale (NIHSS) and modified Rankin scale were compared. RESULTS: The mean age was 67.4±12.01 and 53.8% were male. The mean NIHSS was: 14 (admission), 9 (24 h) and 6 (discharge), similar in subgroups. The difference between NIHSS at admission and 24 hours was 4.17±4.92 (CE: 4.08±4.71; NCE: 4.27±5.17, p=0.900) and at admission and discharge there was an average difference of 6.74±5.58 (CE: 6.97±5.68; NCE: 6.49±5.49, p=0.622). The mRS at discharge and 3 months was not significantly different by subtype, although individuals whose event was NCE are more independent at 3 months. CONCLUSION: Ours findings argue against a specific paper of IT in CE. It can result from heterogeneity of NCE group
- Kalirin: a novel genetic risk factor for ischemic strokePublication . Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, JM; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RN; Pinto, AN; Taipa, R; Ferreira, C; Fontes, JR; Silva, MR; Gabriel, JP; Matos, I; Lopes, G; Ferro, JM; Vicente, AM; Oliveira, SACerebrovascular 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.
- Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patientPublication . Rosa, A; Fonseca, BV; Krug, T; Manso, H; Gouveia, L; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RM; Pinto, AN; Taipa, R; Ferreira, C; Fontes, JR; Gabriel, JP; Matos, I; Lopes, G; Ferro, JM; Vicente, AM; Oliveira, SABACKGROUND: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. METHODS: We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. RESULTS: Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45-0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41-7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13-7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. CONCLUSION: Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample.
- A trombólise endovenosa é mais eficaz nos acidentes vasculares cerebrais isquêmicos cardioembólicos do que nos não cardioembólicos?Publication . Rocha, S; Rocha, J; Sousa, F; Pinho, J; Rodrigues, M; Ferreira, C; Machado, A; Mare, R; Fontes, JRIt was suggested that intravenous thrombolysis (IT) leads to larger extent recanalization in cardioembolic stroke. In this work we assess if this has beneficial clinical traduction. METHOD: We evaluated 177 patients undergoing IT, which were categorized into cardioembolic (CE) and non-cardioembolic (NCE). National Institutes of Health Stroke Scale (NIHSS) and modified Rankin scale were compared. RESULTS: The mean age was 67.4 ± 12.01 and 53.8% were male. The mean NIHSS was: 14 (admission), 9 (24 h) and 6 (discharge), similar in subgroups. The difference between NIHSS at admission and 24 hours was 4.17 ± 4.92 (CE: 4.08 ± 4.71; NCE: 4.27 ± 5.17, p=0.900) and at admission and discharge there was an average difference of 6.74 ± 5.58 (CE: 6.97 ± 5.68; NCE: 6.49 ± 5.49, p=0.622). The mRS at discharge and 3 months was not significantly different by subtype, although individuals whose event was NCE are more independent at 3 months. CONCLUSION: Ours findings argue against a specific paper of IT in CE. It can result from heterogeneity of NCE group.
- Trombose Venosa Cerebral com Hipertensão Intracraniana: quando a terapêutica médica falhaPublication . Rocha, S; Rodrigues, M; Maré, R; Ferreira, C; Fontes, JR