965 resultados para co-occurrence
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Project work presented as a partial requirement to obtain a Master Degree in Information Management
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Dissertação para obtenção do Grau de Doutor em Energia e Bioenergia
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Familial renal glucosuria (FRG) is a rare co -dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult human kidney. The phenotype of FRG pedigrees was evaluated using direct sequencing for the identification of sequence variations in the SLC5A2 gene. The expression of SGLT2 in the adult human kidney was studied by immunofluorescence on kidney biopsy specimens. In the absence of renal biopsies from FRG individuals, and in order to evaluate the potential disruption of SGLT2 expression in a glucosuric nephropathy, we have selected cases of nucleoside analogues induced proximal tubular toxicity. We identified six novel SLC5A2 mutations in six FRG pedigrees and described the occurrence of hyperuricosuria associated with hypouricaemia in the two probands with the most severe phenotypes. Histopathological studies proved that SGLT2 is localized to the brush -border of the proximal tubular epithelia cell and that this normal pattern was found to be disrupted in cases of nucleoside analogues induced tubulopathy. We present six novel SLC5A2 mutations, further contributing to the allelic heterogeneity in FRG, and identified hyperuricosuria and hypouricaemia as part of the FRG phenotype. SGLT2 is localized to the brush -border of the proximal tubule in the adult human normal kidney, and aberrant expression of the co -transporter may underlie the glucosuria seen with the use of nucleoside analogues.
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A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics
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A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics
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Os autores documentam a cardiopatia difusa fibrosante, com todos os sintomas clínicos e dados de autópsia pertinentes à insuficiência cardíaca congestiva, em um dos 21 cães infectados com a cepa Colombiana (cinco morreram na fase aguda e quatro continuam vivos) e cinco, dos 13 infectados com a cepa Berenice-78 (oito morreram na fase aguda), num período de oito anos de observação. Em vista destes resultados, os autores sugerem que o cão possa vir a ser um modelo experimental, adequado para o estudo da história natural da doença de Chagas, preenchendo os requisitos estabelecidos pelo Comitê Assessor de Doença de Chagas do Programa Especial de Pesquisa e Treinamento em Doenças Tropicais da Organização Mundial de Saúde.
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In this paper we present a study of members of 265 nuclear families, aged six or more. This study is based of family heredograms, and takes into account the clinical form ofschistosomiasis observed before treatment with oxamniquine. The probability of occurrence of two or more cases ofhepatosplenomegaly is low, notwithstanding the fact that it was observed in 38 families. Even less frequent is the occurrence of three or more cases observed in 17 families (P=0.002). The concentration of the hepatosplenic form was higher among siblings than it was among mothers and children, or fathers and children. It was found to be not significant between husband (father) and wife (mother). These observations reinforce the evidence for the presence of a genetic component in susceptibility to the hepatosplenic form of the disease. In cases in which the mother was hepatosplenic there was a higher incidence of hepatosplenic children; the relative risk was a least five times higher than in those in which the father was the affected member (the maternal effect). In cases where both members were affected by the hepatointestinal form, the risk to the filial generation was similar to that of the population in general. Thus, in the process towards severe forms of Schistosomiasis mansoni, pre and post natal factors might be involved.
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Dissertação para obtenção do Grau de Mestre em Energia e Bioenergia
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Thesis submitted for the Degree in Master of Energy and Bioenergy
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Trabalho avaliado na unidade “Métodos Interactivos de Participação e Decisão” do Programa Doutoral em Avaliação de Tecnologia na FCT-UNL sob orientação da Profª Lia Vasconcelose do Prof. Nuno Videira. [Relatório entregue em Dezembro de 2011]
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Dissertação para obtenção do Grau de Mestre em Energia e Bioenergia