Encontrados 3 documentos, a visualizar página 1 de 1
Cianose Central Neonatal: nem sempre cardíaca, nem sempre pulmonar
Spinola, Ana Isabel Franco; Centro Hospitalar e Universitário de Coimbra, EPEA cianose congénita está frequentemente associada a patologias que diminuem a oxigenação da hemoglobina (Hb) ou sua capacidade para libertar o oxigénio (O2). Descritos 3 casos de cianose neonatal que apresentavam baixa saturação tecidular de O2, com fraca resposta à oxigenoterapia e níveis de MetaHb elevados. A cianose diminuiu gradualmente, concomitantemente com a redução dos níveis de MetaHb, sugestivo da pre...
Heterozygous β thalassemia with triplication of the α globin gene.
Constanço, Ma Conceição; Rocha, Paula; Bento, Celeste; Silva, Helena MWe describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heteroz...
Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the d...
Coutinho, Ana; Sousa, Inês; Martins, Madalena; Correia, Catarina; Morgadinho, Teresa; Bento, Celeste; Marques, Carla; Ataíde, Assunção; Miguel, TeresaAbstract Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its heritability within affected families suggest that genes involved in the serotonin system play a role in this disorder. The role in autism etiology of seven candidate genes in the serotonin metabolic and neurotransmission pathways and mapping to autism li...
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