Browsing by Author "Gomes, A."
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- Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese population with Familial HypercholesterolaemiaPublication . Gomes, A.; Santos, T.; Costa, L.; Bourbon, M.Familial Hypercholesterolaemia is a genetic disorder characterized by an increase in TC and LDLC leading to premature atherosclerosis (ATH) and cardiovascular disorders (CVD) but not all FH patients develops premature CVD. Early identification of FH patients at an even increased risk of developing CVD is important. Genetic markers could improve risk stratification for this patients. Inflammation has been considered to be involved in the pathogenesis of CVD and genetic and oxidative stress markers may also contribute to ATH and CVD outcome.
- Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese Population with Familial HypercholesterolaemiaPublication . Gomes, A.; Santos, T.; Costa, L.; Bourbon, M.Familial Hypercholesterolaemia (FH) is a genetic disorder that leads to an increase in levels of total and low density lipoprotein cholesterol promoting atherosclerosis (ATH) and premature cardiovascular disease (CVD). ATH and CVD are multifactorial disorders depending on both genetic and environmental factors and inflammation has been considered to be involved in the pathogenesis of ATH and CVD, namely the activity of pro-inflammatory cytokines and acute phase proteins. Also, there are other risk factors contributing to the development and progression of ATH and CVD as genetic and oxidative stress markers.
- Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese population with Familial HypercholesterolaemiaPublication . Gomes, A.; Santos, T.; Bourbon, M.Familial Hypercholesterolaemia (FH) is a genetic disorder leading to an increase in levels of total and low density lipoprotein cholesterol promoting atherosclerosis (ATH) and premature cardiovascular disease (CVD). Inflammation has been considered to be involved in the pathogenesis of CVD, namely the activity of pro-inflammatory cytokines and acute phase proteins. Genetic and oxidative stress markers may contribute to ATH and CVD outcome. We intended to investigate the role of genetic, inflammatory and oxidative biomarkers in the clinical outcome of FH patients and study its putative correlation with CVD. We selected 41 FH patients with CVD, 91 without CVD and 49 healthy individuals. All individuals were characterized through the determination of the lipid profile (high density lipoprotein, LDL and total cholesterol (TC), triglycerides (TG), apolipoproteinA, apolipoproteinB, lipoprotein(a)), measurement of serum concentration of inflammatory markers (ceruloplasmin, haptoglobin and C reactive protein), pro-inflammatory cytokines (interleukin-6 (IL6) and tumor necrosis factor-alpha (TNFα)), homocysteine and markers of antioxidant / pro-oxidant status (nitric oxid (NO) and oxidized LDL). Genetic characterization was achieved by the study of polymorphisms in the genes encoding for LPL, APOAV, APOCIII, TNF-α, IL6, MTHFR and NOS. The results showed that the group of FH patients with CVD presented increased TC (p<0,001) and LDL cholesterol (p=0,001) and apoB (p<0,001) levels and decreased apoA1 (p=0,021) levels in relation to the FH group without CVD. In the FH group with CVD it was observed the highest oxLDL and the lowest NO concentrations. APOAV-1131C and APOCIII 3238G allele were associated with higher TG levels (p=0,013; p=0,042) in the FH group without CVD. MTHFR 677T allele was associated with high TC levels (p=0,006) in the FH group with CVD. Markers of lipid metabolism are evident between the groups analyzed however inflammatory and genetic markers need further studies to improve our knowledge of their role in CVD outcome.
- Caracterização bioquímica e molecular de doentes com hipercolesterolemias genéticasPublication . Alves, A.C.; Medeiros, A.M.; Gomes, A.; Bourbon, M.O colesterol elevado no sangue contribui para o processo arterosclerótico, que está na base das doenças cardiovasculares (DCV). Perturbações no metabolismo lipídico podem dever-se a alterações nos receptores ou seus ligandos, como é o caso da Hipercolesterolemia Familiar (FH). A FH é uma doença autossómica dominante que se caracteriza a nível clínico por níveis elevados de cLDL, levando ao aparecimento prematuro de doenças cardiovasculares. A nível genético esta doença caracteriza-se por mutações em três genes: LDLR, APOB e PCSK9. O objectivo deste estudo foi analisar o perfil bioquímico e molecular de doentes com FH diagnosticada clinicamente e o aparecimento de doença cardiovascular prematura nos doentes referenciados ao Estudo Português de Hipercolesterolemia Familiar (EPFH).
- Determination of sdLDL particles in patients with Familial Hyercholesterolaemia and Familial Combined HyperlipidaemiaPublication . Gomes, A.; Santos, T.; Bourbon, M.Several studies demonstrated that sdLDL are an emerging cardiovascular (CV) risk factor. The objective of this study was sdLDL measurement in patients with genetic diagnosis of Familial Hypercholesterolaemia (FH) and clinical diagnosis of Familial Combined Hyperlipidaemia (FCHL) to establish a relation between sdLDL, CV risk and the efficacy of therapeutics. Lipid profile was determined using a polyacrylamide gel electrophoresis system that separates the particles in serum that contain cholesterol. The lipidogram obtained classifies the patients as being profile A (low CV risk) or B (high CV risk) depending on the sdLDL concentration. The lipid profile was obtained from 43 FH adults and 46 FCHL adults, index and relatives. FH and FCHL patients without medication and with high sdLDL (>6mg/dl) have significant higher levels of total cholesterol, LDL and ApoB and FCHL patients also have significant higher triglycerides, compared to FH and FCHL patients with sdLDL levels under recommended values. Under medication FH patients have significant higher ApoB levels and lower HDL, and FCHL patients have significant higher total cholesterol, LDL and ApoB levels. Interestingly, 71,4% of FCHL patients under medication presented high CV risk profile, showing that statins seem not to decrease sdLDL levels and neither CV risk. Also FCHL patients are not well medicated or do not respond to usual medication to decrease cholesterol. These preliminary results indicate that sdLDL could be a good biomarker for treatment control but further studies are needed to evaluate the effect of medication in sdLDL levels in FH and FCHL patients.
- 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.
- First case of confirmed congenital Zika syndrome in continental AfricaPublication . Sassetti, M.; Zé-Zé, L.; Franco, J.; Cunha, J.D.; Gomes, A.; Tomé, A.; Alves, M.J.Background: Zika virus has been responsible for recent outbreaks in the western hemisphere with known neurological complications such as microcephaly. This complication has not been previously documented in continental Africa. Methods: Neurological evaluation of the newborn was performed after birth, at one and two months of age. The mother and the newborn sera samples were tested by immunofluorescent assay (IFA; immunoglobulin G [IgG] and IgM) for Zika virus and the presence of Zika virus ribonucleic acid (RNA) was checked by qualitative real-time reverse transcription polymerase chain reaction (RT-PCR) in placenta, blood and urine samples. Results: We report on a newborn, born in Portugal, with microcephaly with confirmed congenital Zika virus infection (Asian lineage) imported from Angola with typical clinical and imaging findings. Conclusions: To our knowledge this is the first report that shows the circulation of the Asian lineage in Angola and the first report of a congenital Zika syndrome in continental Africa.
- The impact of cascade screening in familial hypercholesterolemia diagnosisPublication . Gomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. It’s characterized by an increase of total and LDL cholesterol levels leading to premature cardiovascular disease. According to the frequency of the disease in most European countries (1:500 individuals) it is estimated that in Portugal exists about 20.000 cases of FH, but this disease is severe under-diagnosed in our country. Cascade screening (CS) is as method for identifying individuals at risk of a genetic condition by a process of family tracing through molecular studies, allowing the rapid identification of new FH cases within a family.