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  • Applications of iPSCs in Gaucher Disease
    Publication . Amaral, Olga; duarte, ana; Ribeiro, Diogo; Santos, Renato; Bragança, José
    In recent years, human induced pluripotent cell (hiPSC) models have slowly become a trend in experimental modelling of disease, following and complementing animal based models. Human iPSCs provide an innovative manner for modelling Gaucher Disease (GD). Since 2008 several groups have created iPSCs models from GD patients, with various genotypes, and differentiated iPSCs to neural precursors and macrophages among many other types of cells. hiPSC models have been developed from multiple GD donors, recapitulating the disease phenotypic hallmarks. These models have provided a new platform for pathophysiology studies and for the testing of small molecules with therapeutic goals.
    2020-05-25Documento de conferência Acesso restrito Ver mais
  • Botulism disguised as parotitis
    Publication . Caldas, João Paulo; Filipe, Rita; Queirós, Rita; Grilo Novais, António; Almeida, Francisco; Malheiro, Luís; Teixeira Lopes, Teresa; Saraiva, Margarida; Tavares, Margarida; Sarmento, António
    Botulism is an acute toxin-mediated neuroparalytic syndrome caused by some Clostridium species. It typically presents itself as an acute symmetric descending paralysis of cranial and peripheral nerves, which can potentially evolve to respiratory failure and death. We report a case of botulism diagnosed in a patient presenting with a parotitis probably due to xerostomia, even though he had already sought medical assistance for blurred vision and dysphagia. The neurological symptoms resolved without administration of antitoxin and botulism diagnosis was confirmed with identification of both toxins B and F in patient's serum. We aim to illustrate the need for a high clinical suspicion for the diagnosis of botulism and to report an atypical case of botulism with the production of toxins B and F, the latter being of rare occurrence.
    2020-05-25Artigo científico Acesso aberto Ver mais
  • Elemental composition and bioaccessibility of three insufficiently studied Azorean macroalgae
    Publication . Afonso, Claúdia; Matos, Joana; Campos, Ana M.; Gomes, Romina; Delgado, Inês; Coelho, Inês; Castanheira, Isabel; Bandarra, Narcisa M.; Cardoso, Carlos
    The elemental composition and bioaccessibility of the Azorean macroalgae Petalonia binghamiae, Osmundea pinnatifida and Halopteris scoparia were studied. H. scoparia had the highest Cr, Mn, Co and Ni contents. Iodine content was also the highest in H. scoparia, 1098 ± 54 mg kg dw−1. Content reductions due to rehydration were in the 75%–90% range. Steaming led to similar reductions with exception of Cr, Mn, Co, Ni and Zn in O. pinnatifida. For P. binghamiae and O. pinnatifida, bioaccessibility percentages varied between elements. Variation due to rehydration and culinary treatment was narrower, particularly for P. binghamiae. Whereas I bioaccessibility was low in O. pinnatifida, 11%–14%, it reached 57%–69% in P. binghamiae. On the basis of bioaccessibility, to meet the I DRI, 2.7 g dried P. binghamiae, 16.9–23.8 g rehydrated P. binghamiae and 12.7 g steamed P. binghamiae everyday are required. For O. pinnatifida, 5.0 g, 19.0–33.3 g and 12.9 g of dried, rehydrated and steamed red seaweed, respectively, are needed.
    2020-05-25Artigo científico Acesso restrito Ver mais