Encontrados 9 documentos, a visualizar página 1 de 1

Variação genética associada ao nível de hemólise crónica na drepanocitose: um e...

Aplicação de scores de gravidade à anemia das células falciformes: um problema ...

Sickle cell disease severity scoring: cross-validation between a disease severi...

Sickle cell disease (SCD) is a monogenic disorder under polygenic and environmental control. This aetiopathogenic architecture leads to marked clinical heterogeneity with the emergence of multiple and diverse subphenotypes, which makes the patients severity stratification particularly difficult. A number of severity scores have been proposed, aiming at the integration of many clinical dimensions into a meaningf...

Haemolysis in sickle cell anaemia: a genotype/phenotype association study

Sickle-cell anaemia (SCA) is a clinically heterogeneous autosomal recessive monogenic chronic anaemia characterized by recurrent episodes of severe vaso-occlusion, haemolysis and infection. Several genetic and environmental modifiers have been suggested to modulate the onset and course of SCA. As part of a wider research on the development and validation of vaso-occlusion early predictors in SCA, we have studi...

A cirurgia de controlo de danos em contexto de trauma: A fisiopatologia como su...

Os doentes traumatizados graves apresentam um elevado risco de desenvolver coagulopatia, hipotermia e acidose metabólica, alterações conhecidas genericamente como tríade letal, o que contribui para um aumento marcado da taxa de mortalidade. Surgiu assim a cirurgia de controlo de danos que demonstrou um impacto positivo na sobrevida destes doentes, evitando cirurgias complexas e demoradas que aumentam ainda mais...

A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years ol...

Novel and rare large deletions in the globin gene clusters causing different ty...

The major component of the red blood cells is hemoglobin A which consists of 2α- and 2β-globin chains encoded by α- and β-globin genes located in two different gene clusters (16p13.3 and 11p.15.5, respectively). Molecular defects (usually point mutation or short deletion) that give rise to a quantitative reduction of the corresponding globin chain, result in a hereditary hypochromic and microcytic anemia called...

The effect of genetic polymorphisms in trans-acting factor genes as modulators ...

Sickle Cell Anemia (SCA), one of the most common autosomal recessive hereditary anemia, is caused by a mutation in the β-globin gene (HBB:c.20A>T) on 11p15.5. This gives rise to a variant named HbS (with the ability to polymerize under certain conditions) as opposed to the normal adult HbA. Although being a monogenic disease, the clinical phenotype of SCA is heterogeneous, ranging from relatively mild to severe...

Projecto de avaliação do ajustamento das competências adquiridas no sistema de ...

Mestrado em Políticas de Desenvolvimento dos Recursos Humanos ; O projecto apresentado elabora um instrumento de avaliação do ajustamento de competências adquiridas no Sistema de Aprendizagem, permitindo responder as questões relacionadas com a concordância entre os conhecimentos e competências adquiridos pelos formandos deste sistema de formação e as competências requeridas e necessidades do mercado de trabal...