Browsing by Issue Date, starting with "2015-07-03"
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- Estimação e previsão do efeito frio no risco de morte em Lisboa e PortoPublication . Antunes, Liliana; Silva, Susana Pereira; Marques, Jorge; Nunes, Baltazar; Antunes, SílviaPeríodos de frio extremo mostraram estar associados a um aumento do risco de morte durante o inverno, particularmente na mortalidade por doenças do aparelho circulatório e respiratório. Apesar do clima temperado, Portugal é um dos países que apresenta maior excesso de mortalidade durante o inverno, na Europa. Este trabalho teve como objetivo estimar e prever o efeito diário da temperatura mínima em duas das principais cidades de Portugal no sentido de desenvolver um sistema de vigilância de ondas de frio.
- Regulation of epithelial chloride transport by tyrosine phosphorylationPublication . Loureiro, Cláudia; Jordan, PeterIn a recent study we reported the regulation of the chloride channel CFTR (Cystic Fibrosis Transmembrane Regulator Condutance) by a novel WNK4/SYK signaling pathway regulating the amount of CFTR at the cell surface. Tyrosine kinase Syk was shown to phosphorylate CFTR and promote its removal from the plasma membrane. In order to study whether Syk may also operate in the regulation of other ion channels or co-transporters, their protein sequences were inspected for the presence of this consensus motif. Among 20 different transport proteins, the Syk motif was identified in the sequence of further chloride transporter proteins.
- Genetic diversity of Lysosomal Storage Disorders in PortugalPublication . Amaral, OlgaSince the beginning of the analysis of mutations causal of Lysosomal Storage Diseases (LSDs) it became perceptible that the Portuguese presented distinct disease and mutational patterns from those of other populations. Some LSDs, such as Gangliosidosis GM2 (GM2), Metachromatic Leukodystrophy (MLD), Gaucher Disease (GD), Mucopolysaccharidosis type I (MPS I) and even Niemann Pick type C1 (NPC1) were noted for their relevance in terms of their representation in the Portuguese population. Concomitantly, other diseases seemed to be under represented (Pinto et al, 2004). In terms of causal mutations there were particular patterns of diversity which raised interest and led to the determination of the frequency of specific mutations in the Portuguese population. The patterns encountered were sometimes indicative of founder effects and of particular population demographic movements, which were later confirmed by the study of the haplotypes associated with the mutations. In this work we carried out three population screenings in order to establish the frequency of different mutations associated with variant B1 of GM2, MPS I and the infantile form of MLD. Such studies allowed the evaluation of the respective frequencies.
- Child growth impairment associated to SchistosomiasisPublication . Botelho, Mónica1. Schistosoma haematobium: facts and figures; 2. The case of Guinea Bissau: school children; 3. Nutritional Status and Growth Indicators : Stunting, Wasting, Underweight