7 documents found, page 1 of 1
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...
Insights Into Homozygous Familial Hypercholesterolemia In Portugal
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Ferreira, Sofia; Gaspar, AnaBackground and Aims: Homozygous Familial Hypercholesterolemia (HoFH) is a rare, biallelic semidominant condition caused by pathogenic/likely pathogenic (P/LP) variants in LDLR, APOB, and/or PCSK9 genes. HoFH is characterized by a severe phenotype with LDL-C >400 mg/dL, xanthomas, and early-onset atherosclerotic cardiovascular disease (ASCVD). This work presents the clinical/genetic and follow-up data on individ...
Homozygous Familial Hypercholesterolaemia: Insights From Portuguese Cases and F...
Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Aguiar, Patrício; Amaro, Mário; Bruges, Margarida; Ferreira, SofiaAims: Present the clinical/genetic and follow-up data on individuals genetically identified with HoFH.
Navigating Challenges and Uncovering Opportunities in Private Cardiology in Por...
Oliveira, Eduardo Infante de; Torres, Diogo; Reis, Eduarda; Antunes Pereira, Vasco
The CTo-aBCDE score : a new predictor of success in chronic total occlusions
Rigueira, Joana; Aguiar-Ricardo, Inês; Menezes, Miguel Nobre; Santos, Rafael; Rodrigues, Tiago; Cunha, Nelson; Francisco, Ana RitaIntroduction: Patient selection for percutaneous coronary intervention (PCI) in chronic total occlusions (CTOs) is crucial to procedural success. Our aim was to identify independent predictors of success in CTO PCI in order to create an accurate score. Methods: In a single-center observational registry of CTO PCI, demographic and clinical data and anatomical characteristics of coronary lesions were recorded. Li...
Algorithm for online information collection. Version 1. observador.py.
Torres, Diogo; Salgado, Susana
Comparative analysis of fractional flow reserve and instantaneous wave-free rat...
Menezes, Miguel Nobre; Francisco, Ana Rita G.; Carrilho-Ferreira, Pedro; Jorge, Cláudia; Torres, Diogo; Cardoso, Pedro; Duarte, José AntónioIntroduction and Objective: Assessment of coronary lesions by the instantaneous wave free ratio (iFR) has generated significant debate. We aimed to assess the diagnostic performance of iFR and its impact on the decision to use fractional flow reserve (FFR) and on procedural characteristics. Methods: In this single-center registry of patients undergoing functional assessment of coronary lesions, FFR was used as ...