5 documents found, page 1 of 1
Cardiovascular risk and pharmacogenetics of statins in Familial Hypercholestero...
Chora, JoanaFamilial hypercholesterolemia is a cardiovascular disease risk condition since its characterized by elevated lipid values since childhood. In this work we stratified CVD risk in a sample of FH patients and the general population and analysed both cohorts in terms of lipid lowering therapy used and attainment of lipid therapeutic target levels. We saw that while the general population has moderate to high CVD ri...
Adaptation of ACMG/AMP guidelines for variant interpretation in familial hyperc...
Chora, Joana; A. Iacocca, Michael; Lisa Kurtz, C; Carrie, Alain; Tichy, Lukas; E. Leigh, Sarah; T. DiStefano, Marina; Defesche, Joep; J. Sijbrands, EricFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism associated with premature atherosclerosis and increased cardiovascular risk. Over 3,000 variants in LDLR, APOB, and PCSK9 have been identified in FH patients; however, <10% of these have been functionally proven to cause disease. The recent ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders a...
Progress in ACMG/AMP-adapted guidelines for standardized variant curation in fa...
Iacocca, Michael A.; Chora, Joana; Rivera, E. Andy; DiStefano, Marina T.; Carrie, Alain; Sijbrands, Eric J.; Defesche, Joep; Freiberger, TomasBackground: - The successes of clinical genetics rely on accurate variant interpretation for the purpose of informing diagnosis and treatment: - However, this practice is often rudimentary and differs among diagnostic laboratories, leading to inconsistencies in pathogenicity classification; - In response, the Clinical Genome Resources (ClinGen) consortium approves expert panels to recommend disease-specific gui...
Genetic diagnosis of Familial Hypercholesterolemia
Bourbon, Mafalda; Chora, Joana; Alves, Catarina
Surdez associada à idade: resultados preliminares
Chora, Joana; Matos, Tiago; Arguello, Patricia; Fialho, Graça; Caria, HelenaA presbiacúsia ou perda auditiva relacionada com a idade (ARHL) é a alteração sensorial mais comum nos idosos, afectando milhões de pessoas no mundo e contribuindo para o seu isolamento social e uma consequente diminuição da qualidade de vida. A ARHL está associada a um amplo espectro de causas ambientais e genéticas, e a consequências de carácter cognitivo e psicossocial. A susceptibilidade genética relaciona-...