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- Familial HypercholesterolaemiaPublication . Alves, Ana Catarina; Medeiros, AnaA clinical case study presentation on Familial Hypercholesterolemia, presented within the framework of Biochemistry and Biomedicine.
- Métodos de Pesquisa de Hipercolesterolemia Familiar (HF): experiência portuguesaPublication . Medeiros, AnaLecture on Research Methods in the Portuguese Hypercholesterolemia Study, 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.
- 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.
- 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.
- 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.
- Generalidades y Diagnóstico de Hipercolesterolemia FamiliarPublication . Alves, Ana CatarinaLecture on General Concepts and Diagnosis of Familial Hypercholesterolemia, presented within the framework of the course “Primary Dyslipidemias: From Diagnosis to Treatment.
- Farmacogenómica: Uma Competência Emergente para FarmacêuticosPublication . Cardoso, Maria LuisLecture on Pharmacogenomics delivered during the first session of the “Conference Cycle of the Scientific Council – Academia and the Pharmaceutical Profession”, organized by the Scientific Council of the Faculty of Pharmacy of the University of Porto.
- Estudios de Análisis Funcional de Variantes de Significado InciertoPublication . Alves, Ana CatarinaLecture on functional studies of Variants of Uncertain Significance (VUS), presented in the course “Primary Dyslipidemias: From Diagnosis to Treatment”, within the framework of the EPHF (Portuguese Familial Hypercholesterolemia Study), developed by the Cardiovascular Research Group – Department of Health Promotion and Prevention of Non-Communicable Diseases.
- 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.