10 documents found, page 1 of 1

Science or business: The urgency of the choice

I may simply be naive, but when I chose a science career, I was aiming at the thrill of discovery, the pursuit of knowledge, the excitation of understanding the way nature does it. It never crossed my mind for a second that all of it had to be reconciled with business-as-usual principles. Nevertheless, after a few decades I struggle to find it the way I dreamed it. It seems that science, like most of our activi...

Lab-on-a chip: nanobiosensors for point-of-care diagnostics

  Introduction: Growing demand for fast, sensitive and simple diagnostic tools are driving the innovation of nanobiosensors, for point-of-care application. By combining state-of-the-art biosensing technologies and micro-scale platforms, they facilitate rapid in situ analyses of disease biomarkers for infectious diseases, cancer, and a wide range of diseases. There are several new modified nanomaterial-based bio...

Editorial

It is with great pleasure that we introduce the first edition of the Athena Health & Research Journal, which seeks to share scientific knowledge in the field of Health Sciences. Our goal is to advance sci- entific progress through meticulous and pertinent publications. Athena Health & Research Journal maintains the belief that scientific knowledge production should not be driven by commercial interests,...

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

O défice de Glicose-6-fosfato Desidrogenase (G6PD) é a enzimopatia eritrocitária conheci da mais comum, atingindo mais de 400 milhões de pessoas em todo o mundo. Portugal é um país de baixa prevalência da doença sendo, no entanto de registar a forte imigração de áreas endémi cas, particularmente para o sul do país. São apresentados os resultados do estudo efectuado dirigido a esta enzima, a nível bioquímico (ac...

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

O défice de Glicose-6-fosfato Desidrogenase (G6PD) é a enzimopatia erirrocitária conhecida mais comum. atingindo mais de 400 milhões de pessoas em todo o mundo. Portugal é um País de baixa prevalência da doença sendo no entanto de registar a forte imigração de áreas endémicas, particularmente para o Sul do País.