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e_LIPID: Characterisation of the Lipid Profile in the Portuguese Population

Mariano, Cibelle; Antunes, M.; Rato, Q.; Bourbon, Mafalda

AIM: Cardiovascular disease (CVD), particularly coronary heart disease and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex etiology in which interactions between multiple genetic and environmental factors play an important role. Dyslipidaemia is one of many independent cardiovascular risk factors that have been identified for CVD, and its correct identi...


Cardiovascular risk profile of high school students: A cross-sectional study

Rocha, T.; Rocha, E.; Alves, A.C.; Medeiros, A.M.; Francisco, V.; Silva, S.; Mendes Gaspar, I.; Rato, Q.; Bourbon, M.

INTRODUCTION: Disease prevention should begin in childhood and lifestyles are important risk determinants of cardiovascular disease. Awareness and monitoring of risk is essential in preventive strategies. AIM: To characterize cardiovascular risk and the relationships between certain variables in adolescents. METHODS: In a cross-sectional study, 854 adolescent schoolchildren were surveyed, mean age 16.3±0.9 year...



Perfil de risco cardiovascular de estudantes do ensino secundário

Rocha, T.; Alves, A.; Medeiros, A.; Francisco, V.; Silva, S.; Guiomar, S.; Paixão, E.; Gaspar, I.; Rato, Q.; Bourbon, M.



Relation between triglycerides associated polymorphisms and lipid profile in Fa...

Santos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, M.

Familial Combined Hyperlipidaemia (FCHL) is a genetic disorder characterized by highly atherogenic profile with prevalence of sdLDL particles, hyperlipidaemia (hypertriglyceridaemia and/or hypercholesterolaemia) and high apoB levels (>120 mg/dL), with different lipid profiles in members of the same family. Some polymorphisms in several genes (LPL -93T>G/D9N, APOAIV Q360H and V13M, APOAV -1131T>C and S19W, APOCI...


Update of the biochemical and molecular results of Portuguese patients with Fam...

Santos, T.; Rato, Q.; Gaspar, I.M.; Rico, M.T.; Silva, J.M.; Bourbon, M.

FCHL is a complex disorder with a highly atherogenic profile. The aim of this study is the biochemical/molecular characterization of FCHL patients. Molecular study of LPL, APOAIV, APOAV, APOCIII and USF1 (s1,s2) was performed in 35 index patients by PCR amplification and sequencing. Total cholesterol (TC), HDL-c, sdLDL, triglycerides (TG), apoB and apoCIII were measured in automated analysers. sdLDL was also an...


Influence of LPL, APOAIV, APOAV, APOCIII and USF1 polymorphisms in a Portuguese...

Santos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, M.

Familial Combined Hyperlipidaemia (FCHL) is a genetic disorder characterized by highly atherogenic profile with presence of sdLDL, hyperlipidaemia (hypertriglyceridaemia and/or hypercholesterolaemia), different lipid profiles in members of the same family and high apoB levels. Some polymorphisms in several genes (LPL -93T>G/D9N, APOAIV Q360H and V13M, APOAV -1131T>C and S19W, APOCIII 3238C>G, USF1s1 and USF1s2)...


Caracterização bioquímica e molecular de doentes com diagnóstico clínico de Dis...

Santos, T.; Rato, Q.; Gaspar, I.M.; Guerra, A.; Rico, M.T.; Sequeira, S.; Silva, J.M.; Bourbon, M.

A Dislipidemia Familiar Combinada (FCHL) é uma doença poligénica caracterizada por hiperlipidemia simples ou combinada, variabilidade intra-individual e intra-familiar do perfil lipídico, ApoB elevada (> 120 mg/dL) e risco elevado de doença cardiovascular (DCV). A sua causa é desconhecida mas alterações nos genes LPL, APOAIV, APOAV, APOCIII e USF1 parecem contribuir para o seu fenótipo. O objectivo deste estudo...


Molecular diagnosis of familial hypercholesterolemia: an important tool for car...

Alves, A.C.; Medeiros, A.M.; Francisco, V.; Gaspar, I.M.; Rato, Q.; Bourbon, M.

Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. Molecular identification of these patients can reduce the burden of mortality from cardiovascular disorders simply by the correct identification of the disease early in life, followed by counseling and appropriate lifestyle modifications, and therapeutic measures when required. Recent studies show that, ...


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