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- Suicidal behaviour in frontotemporal dementia patients-a retrospective studyPublication . Fonseca, L; Duarte, J; Machado, A; Sotiropoulos, I; Lima, C; Sousa, N
- Delay in hospital admission of patients with cerebral vein and dural sinus thrombosisPublication . Ferro, JM; Lopes, MG; Rosas, MJ; Fontes, J; VENOPORT InvestigatorsFactors influencing early hospital admission have been described for several stroke types but not for cerebral vein and dural sinus thrombosis (CVT). CVT is more difficult to diagnose than arterial stroke; delay in hospital admission may postpone CVT treatment. The purposes of this study were: (1) to describe the delay between the onset of symptoms and hospital admission of patients with CVT, and (2) to identify the variables that influence that delay. We registered the interval (days) between the onset of symptoms and hospital admission in 91 consecutive patients admitted to 20 Portuguese hospitals between June 1995 and June 1998. We also studied the impact of admission delay on treatments (prescription of anticoagulants and the number of days elapsed between the onset of symptoms and start of anticoagulation and admission). Median admission delay was 4 days. Twenty-two (25%) patients were admitted within 24 h. Two thirds of the patients were admitted within 7 days and 75% within 13 days. In multiple logistic regression analysis, admission within 24 h was positively associated with mental status disorder (delirium or abulia; OR = 4.59; 95% CI = 1.41-14.89) and negatively associated with headache (OR = 0.03; 95% CI = 0.00-0.32). Presentation as isolated intracranial hypertension was associated with admission delay of more than 4 days (OR = 2.63; 95% CI = 0.97-7.14). Papilloedema was associated with an admission delay of more than 13 days (OR = 4.69; 95% CI = 1.61-13.61). There was no association between admission delay and the proportion of anticoagulated patients. The interval between onset of symptoms and start of anticoagulation was shorter in patients admitted earlier (p = 0.0001, for either admission within 24 h, 4 or 13 days). There is a considerable delay until the clinical picture associated with CVT is recognised as justifying hospital admission, especially when patients present with symptoms identical to isolated intracranial hypertension syndrome.
- 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.
- Psychogenic Movement Disorder After a Venlafaxine-Induced DystoniaPublication . Fonseca, L; Rodrigues, M; Machado, A
- Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplicationPublication . Rocha, J; Guerra, C; Oliveira, R; Dória, S; Rego, R; Rosas, MJThe clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome.
- A whole genome screen for association with multiple sclerosis in Portuguese patientsPublication . Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, E; Compston, A; Sequeiros, J; Maciel, PMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association.
- Stroke and Cardiac Papillary Fibroelastoma: Mechanical Thrombectomy after Thrombolytic TherapyPublication . Santos, AF; Pinho, J; Ramos, V; Pardal, F; Rocha, J; Ferreira, CWe describe a case of a 34-year-old man with a sudden development of right hemiparesis and aphasia because of infarction of the left middle cerebral artery that was submitted to intravenous (IV) recombinant tissue plasminogen activator and mechanical thrombectomy. Transesophageal echocardiogram showed a small mass on the anterior leaflet of the mitral valve. Cardiac surgery was performed, and histological examination of the removed material was consistent with cardiac papillary fibroelastoma (CPF). Experience in using IV thrombolysis for the treatment of embolic stroke because of CPF is limited. To the best of our knowledge, only 3 patients are reported in literature in whom acute ischemic stroke and associated CPF were treated with thrombolytic therapy. A discussion of the efficacy of IV thrombolysis and the possible superiority of mechanical thrombectomy is included.
- Hemangioma intracranianoPublication . Rocha, J; Marques, C; Adams, A; Rodrigues, JA case of intracranial hemangioma in a neonate is described by the authors. The rarity of the condition raised differential diagnosis problems.
- Caracterização dos antecedentes psiquiátricos nos doentes com demência: relação da depressão com a demênciaPublication . Fonseca, L; Machado, A; Duarte, JDepression has been reported as the most frequent neuropsychiatric diagnostic on the clinical background of demented patients, mainly with Alzheimer dementia (AD). Several studies have showed that this relation is not occasional. In this work we present the results of the statistical analysis made on the characterization of the psychiatric background of demented patients from the memory consultation of the Braga Hospital.
- De encefalopatia e orelhas duras ao síndrome de Sheehan: caso clínicoPublication . Machado, A; Ferreira, C; Lopes, M; Pereira, T; Pardal, F