Browsing by Author "Berguete, S."
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- Cascade Screening in Familial Hypercholesterolemia importance in early detectionPublication . Leitão, F.; Medeiros, A.M.; Berguete, S.; Alves, A.C.; Bourbon, M.Familial hypercholesterolemia (FH) is a genetic condition mainly caused by mutations in LDLR but missense mutations in APOB and PCSK9 can cause similar phenotypes. FH is characterized by increased levels of LDL cholesterol, leading to premature cardiovascular diseases (CVD). Cascade screening (CS) allows the rapid identification of new FH cases within a family. The main goal of this work is to perform CS of FH families and to understand the importance of this approach to identify prematurely individuals that are at risk to develop CVD.
- Extended characterization of lipidic profile: evaluation of lipoprotein subfractionsPublication . Leitão, F.; Berguete, S.; Santos, T.; Gomes, A.; Bourbon, M.Dyslipidaemia is one major cause for atherosclerosis and cardiovascular disease. Atherogenicity of LDL particles vary with particle size, density and lipid composition. Smaller and denser subparticles are more atherogenic than the larger ones, so it’s important to quantify and know the type of sdLDL present in an individual in order to access cardiovascular risk. The aim of this study is to compare and evaluate two different techniques for the analysis of the atherogenic lipidic profile of dyslipidaemic individuals.
- Is the clinical criteria important for patient identification in FH patients?Publication . Alves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosis to Prevent Early Death (MEDPED) Program, and the Dutch MEDPED Program. The clinical diagnosis of FH is usually obtained by combining evidence from clinical history, physical signs, biochemical markers and family history. The Dutch MEDPED criteria (DMP) is more specific and is based on a score system, the Simon Broome criteria (SB) and the USA MEDPED criteria (MP) are more broad. Although all of them are based on personal and family clinical history of premature coronary artery disease (CAD) and plasma cholesterol levels, they use different specifications and SB have a cutoff for children under 16 years and other for adults (>16 years). SB and DMP criteria are the most used worldwide.
- To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteriaPublication . Alves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the clinical diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosis to Prevent Early Death (MEDPED) Program, and the Dutch MEDPED Program. The clinical diagnosis of FH is usually obtained by combining evidence from clinical history, physical signs, biochemical markers and family history. The Dutch MEDPED criteria (DMP) is more specific and is based on a score system, the Simon Broome criteria (SB) and the USA MEDPED criteria (MP) are more broad. Although all of them are based on clinical personal and family history of premature coronary artery disease (CAD) and plasma cholesterol levels, they use different specifications. SB and DMP criteria are the most used worldwide. The AIM of this work was to compare both methods and examine the relationship between phenotype and genotype to determine which one is more accurate for the clinical identification of FH patients that should be further characterized.