DPSPDNT - Palestras
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- Alimentação e NutriçãoPublication . Alves, Helena
- 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.
- Autism Genome ProjectPublication . Moura Vicente, Astrid
- 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.
- Boas Práticas no domínio da Promoção da Saúde e Prevenção de Doenças Crónicas na Europa: a experiência atual do Projeto JA-CHRODISPublication . Costa, LucianaObjetivos do projeto: promover e facilitar um processo de intercâmbio e transferência de boas práticas entre os países e regiões da Europa; construir o caminho para a realização de melhores políticas de saúde e intervenções para melhorar o bem-estar dos cidadãos.
- 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.
- CNV selection in 342 Portuguese individuals genotyped by the AGPPublication . Moura Vicente, Astrid
- Crosstalk between iron and copper metabolism in Alzheimer's disease: any news?Publication . Costa, LucianaAlzheimer’s disease (AD) is the most frequent neurodegenerative disorder affecting up to 15 million individuals worldwide. The distinction between normal aging and AD is a relevant step to combat this disease efficiently. Thus, the identification of biomarkers and genetic factors underlying AD pathology is extremely important. Oxidative injury in the brain, mediated by the imbalance of redox-active metals, iron (Fe) and copper (Cu), has been recognized to contribute to the pathology of AD. Accumulation of Fe in the brain is a consistent observation in AD and has been extensively investigated. In fact, a link between congenital Fe overload (haemochromatosis, HFE) and AD has been proposed. The presence of the HFE mutation in AD strongly supports the idea that Fe imbalance in the brain contributes to the disease, and its prevalence indicates that it could be an important risk factor. On the other hand, abnormalities in the synthesis of ceruloplasmin (Cp) have been associated with various neurodegenerative diseases. Cp is an oxidase containing 95% of circulating Cu that has been implicated in maintaining Fe homeostasis in the central nervous system (CNS) and in its protection from Fe-mediated free radical injury. Although the liver is the predominant source of serum circulating Cp, extrahepatic Cp expression has been demonstrated in many tissues. Particularly, a glycosylphosphatidylinositol (GPI)-anchored form of Cp (GPI-Cp) was previously shown to be expressed in the mammalian CNS. Recent results from our group showed that human peripheral blood mononuclear cells constitutively express both secreted Cp and the GPI-Cp isoforms. The exact function of this GPI-linked form is unknown, but previous studies suggested its potential role in Fe mobilization in the blood-brain barrier. From early observations that low circulating serum Cp levels serve as a marker for Wilson’s disease to the characterization of aceruloplasminemia as a neurodegenerative disorder associated with a complete lack of serum Cp, the link between Cp and neuropathy has strengthened. Importantly, the demonstration that Cp acts in concert with Fe transporters during Fe cellular efflux suggest that elucidation of the mechanisms of Fe and Cu trafficking and metabolism within the nervous system may be an important step to understand the pathogenesis of AD. In this presentation, new insights into the putative functional crosstalk between Fe and Cu metabolism and oxidative stress in the pathogenesis of AD will be presented. The results obtained by our group and the hypothesis raised during the ongoing research project on this topic will be discussed.
- 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.
- Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the young) em PortugalPublication . Gaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.; Almeida, B.; Bourbon, M.