Browsing by Issue Date, starting with "2021-02-15"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemiaPublication . Correia, Marta; Kagenaar, Eva; van Schalkwijk, Daniël Bernardus; Bourbon, Mafalda; Gama-Carvalho, MargaridaFamilial hypercholesterolaemia increases circulating LDL-C levels and leads to premature cardiovascular disease when undiagnosed or untreated. Current guidelines support genetic testing in patients complying with clinical diagnostic criteria and cascade screening of their family members. However, most of hyperlipidaemic subjects do not present pathogenic variants in the known disease genes, and most likely suffer from polygenic hypercholesterolaemia, which translates into a relatively low yield of genetic screening programs. This study aims to identify new biomarkers and develop new approaches to improve the identification of individuals carrying monogenic causative variants. Using a machine-learning approach in a paediatric dataset of individuals, tested for disease causative genes and with an extended lipid profile, we developed new models able to classify familial hypercholesterolaemia patients with a much higher specificity than currently used methods. The best performing models incorporated parameters absent from the most common FH clinical criteria, namely apoB/apoA-I, TG/apoB and LDL1. These parameters were found to contribute to an improved identification of monogenic individuals. Furthermore, models using only TC and LDL-C levels presented a higher specificity of classification when compared to simple cut-offs. Our results can be applied towards the improvement of the yield of genetic screening programs and corresponding costs.
- Tabela da Composição de Alimentos: um pouco de história e atualidadePublication . Oliveira, LuísaArtigo de opinião sobre a Tabela da Composição de Alimentos portuguesa que está disponível para pesquisa online desde 2010 e desde 2017 pode ser descarregada livremente em Excel, no endereço http://portfir.insa.pt/, a partir do menu “Composição de Alimentos > Descarregar Excel da TCA”. Adicionalmente, é também possível a pesquisa por palavra-chave, grupo de alimentos, componentes e lista alfabética, e a comparação da composição nutricional entre diferentes alimentos pertencentes ao mesmo ou a diferentes grupos de alimentos. O ficheiro Excel apresenta os alimentos categorizados pelo sistema FoodEx2. A versão atual da TCA (v4.1 – 2019) contém 1275 alimentos (crus, cozinhados e processados) com informação sobre o teor de 42 componentes.