4 documents found, page 1 of 1
Rare Primary Dyslipidaemias Associated with Low LDL and HDL Cholesterol Values ...
Alves, AC; Miranda, B; Moldovan, O; Espírito Santo, R; Gouveia Silva, R; Soares Cardoso, S; Diogo, L; Seidi, M; Sequeira, S; Bourbon, MBackground: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different ma...
Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB ...
Ferreira, AC; Alves, AC; Medeiros, AM; Padeira, G; Bourbon, MFamilial hypercholesterolemia is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case of severe hypercholesterolemia in a 5-year-old child found to have both familial hypercholesterolemia and sitosterolemia. T...
Recommendations for genetic testing in cardiology: Review of major internationa...
Sousa, A; Moldovan, O; Lebreiro, A; Bourbon, M; António, N; Rato, Q; Rodrigues, P; Toste, A; Gonçalves Rocha, M; Oliveira, R; Granja, S; Cruz, CIn recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes ...
«Papa Bem»: investir na literacia em saúde para a prevenção da obesidade infantil
Goes, AR; Câmara, G; Loureiro, I; Bragança, G; Nunes, L; Bourbon, MIntrodução: O projeto «Papa Bem» tem como finalidade promover a literacia em saúde, através da criação e disseminação de materiais escritos e audiovisuais acerca da obesidade infantil e formas de prevenção, desde a conceção até aos 5 anos de idade. Materiais e métodos: A elaboração do plano editorial e a produção dos materiais tiveram por base um estudo exploratório, que contou com uma revisão da literatura e c...