83 documents found, page 1 of 9
Hipercolesterolemia familiar homozigótica em Portugal: caracterização de casos ...
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Bruges, Margarida; Ferreira, SofiaHipercolesterolemia Familiar (FH) é uma condição autossómica semidominante causada por variantes patogénicas ou provavelmente patogénicas nos genes LDLR, APOB e PCSK9. A FH pode apresentar-se na forma monoalélica (FH heterozigótica) ou bialélica (FH homozigótica). A forma homozigótica é mais rara e com fenótipo mais grave. Indivíduos com FH homozigótica geralmente apresentam hipercolesterolemia severa (LDL>400m...
Unveiling the Role of APOB Variants in Familial Hypercholesterolemia: Functiona...
Ferreira, Maria Simões; Ramos, Diana; Rato, Inês; Jannes, Cinthia E.; Larrea-Sebal, Asier; Martín, César; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolemia (FH) is a condition characterized by increased LDL cholesterol levels with APOB variants accounting for about 5-10% of FH cases. However, variants in this gene may be more common than initially estimated since the entire APOB gene has only recently started to be sequenced. Although most of the alterations are missense, nonsense variants and small indels in exon 29 were also identif...
Medi_COR: estudo do perfil farmacoterapêutico da coorte e_COR
Damacena Oliveira, Nayara; Alves, Ana Catarina; Cardoso, Maria Luís; Garvão, Filipa; Grade, Maria Mafalda; Bourbon, MafaldaO estudo Medi_COR analisou o padrão de consumo de medicamentos e sua relação com os fatores de risco cardiovascular na população portuguesa. Este estudo envolveu 1688 adultos com idades compreendidas entre os 18 e 79 anos, provenientes das várias regiões de Portugal continental (coorte e_COR). Observou-se um elevado consumo de medicamentos nesta população; foram identificadas 409 substâncias ativas e associaçõe...
Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype ...
Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria BeatrizBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inapp...
Proposal of a Familial Hypercholesterolemia Pediatric Diagnostic Score (FH-PeDS)
Kafol, Jan; Miranda, Beatriz; Sikonja, Rok; Sikonja, Jaka; Wiegman, Albert; Medeiros, Ana Margarida; Alves, Ana Catarina; Freiberger, TomasBackground and aims: Familial hypercholesterolemia (FH) significantly increases cardiovascular risk from childhood yet remains widely underdiagnosed. This cross-sectional study aimed to evaluate existing pediatric FH diagnostic criteria in real-world cohorts and to develop two novel diagnostic tools: a semi-quantitative scoring system (FH-PeDS) and a machine learning model (ML-FH-PeDS) to enhance early FH detec...
Functional characterization of 16 variants found in the LDL receptor gene
Konečná, Kateřina; Přerovská, Tereza; Loja, Tomáš; Fajkusová, Lenka; Koutná, Jana; Kramárek, Michal; Alves, Ana Catarina; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is a disorder of cholesterol metabolism characterized by elevated LDL-cholesterol levels. The most common cause of FH is pathogenic variants in the LDL receptor (LDLR) gene. To shed light on the functional impact of selected LDLR variants, we functionally characterized 16 LDLR genetic variants alongside 10 control variants. We performed in vitro assays based on transient expre...
Portuguese Lipid Study (e_LIPID)
Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quitéria; Antunes, Marília; Bourbon, MafaldaBackground/Objectives: Incidence of cardiovascular disease (CVD) is increasing in low- and middle-income countries because of changing lifestyles. Since dyslipidaemia is a major independent cardiovascular risk factor, its correct identification is critical to implement specific interventions for CVD prevention. This study aimed to characterise the lipid profile of the Portuguese population. Methods: Overall, 16...
Functional studies of APOB variants the experience of the Portuguese Familial H...
Ferreira, Maria Simões; Chora, Joana Rita; Medeiros, Ana Margarida; Bourbon, Mafalda; Alves, Ana CatarinaFamilial hypercholesterolemia (FH) is clinically characterized by increased levels of circulating LDL cholesterol leading to premature coronary heart disease. It can be caused by variants in LDLR, APOB, and PCSK9 genes. APOB variants are responsible for 5-10% of the FH cases, p.(Arg3527Gln) being the most common. Only recently the whole gene has been sequenced due to Next Generation Sequencing, increasing the v...
Generation and validation of a classification model to diagnose familial hyperc...
Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana RitaBackground and aims: The early diagnosis of familial hypercholesterolaemia is associated with a significant reduction in cardiovascular disease (CVD) risk. While the recent use of statistical and machine learning algorithms has shown promising results in comparison with traditional clinical criteria, when applied to screening of potential FH cases in large cohorts, most studies in this field are developed using...
Estudo Português de Hipercolesterolemia Familiar (1999-2021): relação fenótipo-...
Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, MafaldaA Hipercolesterolemia Familiar (FH) é uma condição genética comum do metabolismo dos lípidos, que se encontra subdiagnosticada. Existem três genes primários associados à FH (LDLR, APOB e PCSK9) e 5 genes fenocópias (LDLRAP1, LIPA, ABCG5, ABCG8 e APOE), que conferem um fenótipo semelhante à FH. Neste trabalho pretende-se apresentar a relação fenótipo-genótipo dos indivíduos com critérios clínicos de FH referenci...