12 documents found, page 1 of 2
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.
Atherosclerotic Cardiovascular Disease, Unmet Needs, and Inclisiran
Ferreira, Jorge; Palma, Isabel; Pereira de Moura, José; Gouveia, Miguel; Corte-Real, Ana; Mello e Silva, AlbertoThe leading cause of death and disability worldwide aredue to atherosclerotic cardiovascular disease (ASCVD), entailing a heavy economic impact, in Portugal corresponding to 1% of the gross domestic product. The development and progression of ASCVD are closely related to hypercholesterolaemia, with high LDL-C levels being its most important and easily modifiable risk factor. Reducing LDL-C has been shown to dec...
Familial chylomicronemia syndrome in Portugal
Alves, Ana Catarina; Miranda, Beatriz; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, andliapemiaretinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL)....
Apolipoprotein B and non-high-density lipoprotein cholesterol reveal a high ath...
Fonseca, Liliana; Paredes, Sílvia; Ramos, Helena; Oliveira, José Carlos; Palma, IsabelBackground: Lipid-lowering therapy is guided by Low-density-lipoprotein cholesterol (LDL-c) levels, although the cardiovascular disease (CVD) risk could be better reflected by other lipid parameters. This study aimed at comparing a comprehensive lipid profile between patients with type 2 diabetes mellitus (T2DM) with LDL-c concentration within and above target. Methods: A comprehensive lipid profile was charact...
Approach to Patients with Statin Intolerance: Evidence-Based Review
Almeida, Joana Tendais; Esteves, Ana Luísa; Martins, Filipa; Palma, IsabelIntroduction: Statins are among the most effective drugs in lowering cholesterol levels and, consequently, in reducing cardiovascular mortality and morbidity. Although generally well tolerated, they have adverse effects that may reduce patient adherence to therapy. The objective of this evidence-based review is to summarize the evidence on the effectiveness of alternative management strategies in patients with ...
Familial Chylomicronemia Syndrome: clinical and molecular characterization of i...
Alves, Ana Catarina; Abrantes, Leonor; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteAim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase...
Síndrome de quilomicronemia familiar em Portugal, agosto 2020
Alves, Ana Catarina; Sequeira, Sílvia; Moldovan, Oana; Antunes, Henedina; Martins, Esmeralda; Gonçalves, Rute; Duarte, João Sequeira; Guerra, AntónioA síndrome de quilomicronemia familiar (FCS) é uma doença rara, com hereditariedade recessiva, envolvendo o metabolismo das lipoproteínas. Carateriza-se por um aumento acentuado dos triglicéridos (TGs) e quilomicras no plasma. Os doentes apresentam plasma lipémico, pancreatite recorrente, xantomas eruptivos, hepatoesplenomegalia e lipemia retiniana. O presente estudo tem como objetivo a caraterização molecular ...
Checklist for a safe intra-hospital transport of critically ill patients: a sco...
Canellas, Madalena; Palma, Isabel; Pontífice-Sousa, Patrícia; Rabiais, IsabelTransporting critically ill patients is has a set of risks that may jeopardize their safety. Knowing the risks associated with intrahospitalar transport of critically ill patients is essential to improving patient safety. For the sake of improving patient safety, was chosen to approach it as an intrahospitalar transport checklist, as the literature describes it as a practical and simple way to increase safety. ...