DPSPDNT - Palestras
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- APOB Variants Spectrum and Functional Characterization in Portuguese Patients with Familial Hypercholesterolaemia PhenotypePublication . Ferreira, Maria Rafael Simões do Carmo; Alves, Ana Catarina; Rebelo, Maria TeresaFamilial hypercholesterolaemia (FH) is an autosomal semi dominant disorder of lipid metabolism clinically characterized by increased levels of circulating LDL cholesterol and associated with elevated cardiovascular risk. The genetic diagnosis is usually based on the analysis of LDLR, APOB, and PCSK9 genes. APOB variants are responsible for 5-10% of FH cases, and the variant spectrum of APOB has increased due to sequencing of the whole gene through Next Generation Sequencing, consequently increasing the number of variants that need to be functionally assessed. This dissertation aimed to verify the correlation between phenotype and genotype in individuals from the Portuguese FH Study, as well as create a database including all APOB variants found up to date in this study. Moreover, it was intended to characterize two APOB variants identified in subjects from this cohort. Graphics regarding LDL cholesterol levels were designed for index cases FH positive and negative and relatives FH positive. The variants previously detected by NGS were confirmed by PCR and Sanger sequencing, and cascade screening was carried out in families. All APOB variants with MAF <1% were gathered into a database. LDL from index cases and relatives was separated using sequential ultracentrifugation and labelled with FITC for uptake assessment by flow cytometry in CHO-ldlA7 cells, and proliferation assays were performed with U937 cells. A definite diagnosis was possible for 4 individuals carrying known pathogenic variants, and c.6639_6641del/p.(Asp2213del) and c.10121T>C/p.(Ile3374Thr) alterations from exon 26 were functionally assessed. In vitro studies showed a neutral effect on the apoB function for these variants. Furthermore, 143 different variants were discovered located throughout the whole gene, of which more than 90% were variants of uncertain significance. Functional studies, combined with the association between phenotype and genotype, allow a better and more personalized treatment according to the needs of each individual.
- Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (Part 2): How to classify LDLR variantsPublication . Chora, J.R.Lecture about FH LDLR variants - classification of genetic variants for clinical use.
- Avaliação de Políticas Públicas – Plano Nacional de SaúdePublication . Caldas de Almeida, TeresaEnquadramento - Avaliação de políticas públicas: A avaliação de políticas consiste na implementação de princípios e métodos de avaliação para analisar e avaliar o conteúdo, a implementação e/ou o impacto de uma política; A avaliação deverá proporcionar informação baseada em evidências que seja credível, fiável e útil, permitindo a incorporação atempada de resultados, recomendações e lições para os processos de tomada de decisão.
- A Saúde Pública no INSAPublication . Caldas de Almeida, TeresaFunções essenciais do INSA: Investigação e desenvolvimento; Atividade laboratorial de referência; Prestação de serviços diferenciados; Observação em saúde e vigilância epidemiológica; Avaliação de Políticas, PNS e Programas de Saúde do MS; Difusão da cultura científica; Formação e capacitação.
- Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis - A Saúde Pública no INSAPublication . Caldas de Almeida, Teresa; Bourbon, MafaldaÁreas de trabalho do Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis do INSA: Avaliação do Plano Nacional de Saúde; Avaliação de Impacte em Saúde; Literacia em Saúde; Boas Práticas em Promoção da Saúde; Factores de Risco e Biomarcadores para DNT-Estudos populacionais e diagnóstico; Medicina Molecular em DNT; Modelos integrativos em Investigação Biomédica; Medicina Personalizada.
- Regulatory RNA genes are targeted by Copy Number Variation in Autism Spectrum DisorderPublication . Marques, Ana RitamiRNA and lncRNA are abundantly expressed in the brain and play an important role during early stages of neural development.
- Gene-environment interactions in Autism Spectrum DisorderPublication . Santos, João PedroStrategy: Identify environmental factors relevant for ASD and genes involved in response to exogenous factors.
- Genetics and Functional Genomics of Familial hypercholesterolemiaPublication . Bourbon, MafaldaAbout genetics and functional genomics of Familial Hypercholesterolemia.
- Estudo português de Hipercolesterolaemia FamiliarPublication . Bourbon, MafaldaMain Aim: To identify the cause of the dyslipidaemia in patients with a clinical phenotype of Familial Hypercholesterolaemia (FH). Secondary aims: To implement the genetic diagnosis of FH; To perform an epidemiological study of FH; To study the pathophysiology of premature CHD in FH patients.
- Doenças Crónicas causadas por Agentes InfeciososPublication . Botelho, MónicaDoenças Crónicas causadas por Agentes Infeciosos