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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, Joana RitaLecture on the Classification of Genetic Variants for Clinical Use – The Case of Familial Hypercholesterolemia (Part 2): How to Classify LDLR Variants, presented within the framework of Genetics and Genomics in Clinical Practice: Advanced Training. This advanced course is aimed at healthcare professionals seeking to understand, interpret, and apply genomic information in clinical practice in a critical, ethical, and effective manner, particularly physicians and professionals with a background in life sciences.
- 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.
- Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (part I)Publication . Bourbon, MafaldaLecture on the Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (part I), presented within the framework of Genetics and Genomics in Clinical Practice: Advanced Training. This advanced course is aimed at healthcare professionals seeking to understand, interpret, and apply genomic information in clinical practice in a critical, ethical, and effective manner, particularly physicians and professionals with a background in life sciences.
- CNV selection in 342 Portuguese individuals genotyped by the AGPPublication . Moura Vicente, Astrid
- Criterios de Estratificación de Variantes Según ACMGPublication . Medeiros, AnaLecture on Variant Stratification Criteria Developed by American College of Medical Genetics and Genomics (ACMG), presented in the course “Primary Dyslipidemias: From Diagnosis to Treatment,” within the framework of the EPHF (Portuguese Familial Hypercholesterolemia Study), conducted by the Cardiovascular Research Group – Department of Health Promotion and Prevention of Non-Communicable Diseases.