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Sintomatologia e diagnóstico laboratorial da rinite alérgica em estudantes e tr...

tem-se verificado um aumento de alergias em todo o mundo estimando-se que 10-20% dos portugueses sofra de rinite alérgica (rA). no presente estudo procuramos caracterizar a sintomatologia e percepção de rA em estudantes e trabalhadores da indústria Química. Dos resultados destacamos que o número de inquiridos que afirmam sofrer de rA (19,9%) é semelhante ao descrito na literatura, mas um número maior de inquiri...

Protein deficiency balance as a predictor of clinical outcome in hereditary sph...

Vertical and horizontal interactions between membrane constituents account for integrity, strength and deformability of the erythrocyte. Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane vesiculation with development of spherocytic cells. Our aim was to evaluate the hematological and clinical presentation of HS according to the type and ...

Coexistence of congenital red cell pyruvate kinase and band 3 deficiency

The authors report the case of a 9-year-old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD), because of two previously described mutations (426Arg fi Trp and 510Arg fi Gln). Since the blood smear revealed features not fully compatible with PKD diagnos...

Co-existance of congenital red cell pyruvate kinase and band 3 deficiency

Défice de glicose-6-fosfato desidrogenase, ictericia nenatal e Sindroma de Gilbert

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with ch...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6P...

Défice de glicose-6-fosfato desidrogenase em duas crianças do sexo feminino

Défice de glicose-6-fosfato desidrogenase em 10 familias residentes no norte de...

O Receptor da célula T na hemocromatose hereditária

Dissertação de Doutoramento em Ciências Biomédicas, área de especialização em Imunologia, apresentada ao Instituto de Ciências Biomédicas de Abel Salazar da Universidade do Porto