10 documents found, page 1 of 1

Hipercolesterolemia familiar homozigótica em Portugal: caracterização de casos ...

Hipercolesterolemia 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...

Atherosclerotic Cardiovascular Disease, Unmet Needs, and Inclisiran

The 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

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, 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...

Background: 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...

Checklist for a safe intra-hospital transport of critically ill patients: a sco...

Transporting 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. ...

Approach to Patients with Statin Intolerance: Evidence-Based Review

Introduction: 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...

Aim: 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

A 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 ...

Segurança no transporte intra-hospitalar do doente crítico: checklist, a scopin...

Renin-angiotensin-aldosterone system (RAAS) and its pharmacologic modulation.

The renin-angiotensin-aldosterone system (RAAS) is a neuroendocrine complex system that regulates the modulation of salt and water homeostasis, and regulation of blood pressure. Through its multiple interactions it protects the endothelium, heart, brain and kidney. In addition, the RAAS regulates the vascular response to injury and inflammation. Chronic activation/dysregulation of the RAAS leads to hypertension...