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- Os custos da aterosclerose em PortugalPublication . Costa, João; Alarcão, Joana; Amaral‐Silva, Alexandre; Araújo, Francisco; Ascenção, Raquel; Caldeira, Daniel; Cardoso, Marta Ferreira; Correia, Manuel; Fiorentino, Francesca; Gavina, Cristina; Gil, Victor; Gouveia, Miguel; Lourenço, Francisco; Mello e Silva, Alberto; Mendes Pedro, Luís; Morais, João; Vaz‐Carneiro, António; Teixeira Veríssimo, Manuel; Borges, MargaridaIntrodução e objetivos: As doenças cardiovasculares são a principal causa de morte em Portugal, sendo a aterosclerose o processo fisiopatológico subjacente mais comum. O objetivo deste estudo foi quantificar o impacto económico da aterosclerose em Portugal através da estimação dos custos associados. Métodos: A estimativa dos custos foi realizada na ótica da prevalência e na perspetiva da sociedade. A prevalência das principais manifestações focais da aterosclerose foi estimada com recurso a três fontes epidemiológicas nacionais. O custo anual da aterosclerose incluiu custos diretos (consumos de recursos) e indiretos (impacto na produtividade da população).Estes custos foram estimados para o ano de 2016 com base nos dados da Base de Dados de Morbilidade Hospitalar, do Sistema de Informação da Administração Regional de Saúde de Lisboa e Vale do Tejo que integra informação da prática clínica real em ambiente de cuidados de saúde primários e do Inquérito Nacional de Saúde de 2014 e na opinião de peritos. Resultados: O custo da aterosclerose em 2016 totalizou cerca de 1,9 mil milhões de euros (58%e 42% correspondendo a custos diretos e indiretos, respetivamente). A maior parte dos custos diretos esteve associada aos cuidados de saúde primários (55%), seguindo-se o ambulatório hospitalar (27%) e, por último, os episódios de internamento (18%). Os custos indiretos foram principalmente determinados pela não participação no mercado de trabalho (91%).Conclusões: A aterosclerose apresenta um importante impacto económico, correspondendo a uma despesa equivalente a 1% do Produto Interno Bruto nacional e a 11% da despesa corrente em saúde, em 2016.
- Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient populationPublication . Tatlisumak, T; Putaala, J; Innilä, M; Enzinger, C; Metso, TM; Curtze, S; von Sarnowski, B; Amaral-Silva, A; Jungehulsing, GJ; Tanislav, C; Thijs, V; Rolfs, A; Norrving, B; Fazekas, F; Suomalainen, A; Kolodny, EHMitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause.
- Thrombolysis in Patients Aged over 80 Years Is Equally Effective and SafePublication . Pego, PM; Nunes, AP; Ferreira, P; Sousa, C; Amaral-Silva, ABACKGROUND: Despite stroke's high prevalence in the elderly, intravenous thrombolysis is licensed in Europe only for patients younger than 80 years old. We aimed to compare the functional outcomes and complication rates in patients older versus younger than 80 years old treated with intravenous thrombolysis. METHODS: A retrospective observational study of patients who received intravenous thrombolysis in a stroke unit between January 1, 2009, and June 30, 2012, was conducted. Variables were compared between 2 subgroups (≤80 and >80 years). RESULTS: Overall, 512 patients underwent intravenous thrombolysis, of which 13.1% were over 80 years. The mean age was 65.4 years in the younger subgroup and 82.9 years in the older subgroup. Prior independence rates did not differ between the subgroups. Prevalence of atrial fibrillation and cardioembolic stroke was higher in the older subgroup (P = .004 and .026). Only 3% of the elderly with atrial fibrillation were taking oral anticoagulants. Symptoms-to-needle time was lower in the older subgroup (P = .048). Stroke severity was higher in patients over 80 years (P = .026). There was significant improvement in the National Institutes of Health Stroke Scale score 7 days after intravenous thrombolysis (P < .001) in both subgroups. The proportion of patients with 3 months' favorable outcome and independence, hemorrhagic transformation, and mortality rates were similar in both subgroups. CONCLUSIONS: Elderly patients' benefits and outcomes from intravenous thrombolysis treatment were identical to the younger subgroup without excess hemorrhagic transformation or mortality. These results favor the use of intravenous thrombolysis in patients over 80 years.
- Atypical phenotype in two patients with LAMA2 mutationsPublication . Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).