DPSPDNT - Artigos em revistas nacionais
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- Lymphocyte ceruloplasmin and Behçet's diseasePublication . Oliveira, R.; Banha, J.; Martins, F.; Paixão, E.; Pereira, D.; Barcelos, F.; Teixeira, A.; Patto, J.V.; Costa, L.Behçet's disease (BD) is a rare chronic inflammatory disorder of unknown aetiology. However, it has been postulated that a dysregulation of the prooxidant/antioxidant balance may be important to its pathogenesis. Ceruloplasmin (CP) is an acute phase protein expressed at the surface of peripheral blood lymphocytes (PBL) with antioxidant properties and with a relevant role in iron (Fe) metabolism.
- Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary resultsPublication . Bourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia FamiliarFamilial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR). Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although underdiagnosed in many populations, including the Portuguese. In 1999 the Portuguese Familial Hypercholesterolemia Study was begun at the National Institute of Health.
- Portuguese study of familial dilated cardiomyopathy: the FATIMA studyPublication . Martins, E.; Silva-Cardoso, J.; Bicho, M.; Bourbon, M.; Ceia, F.; Rebocho, M.J.; Moura, B.; Fonseca, C.; Correia, M.J.; Brito, D.; Perdigão, C.; Madeira, H.; Abreu-Lima, C.Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins. To date, most studies aimed at molecular diagnosis of DCM have been in selected families, or in larger groups of patients, but screening for mutations in a limited number of genes. Consequently, the epidemiology of mutations in familial DCM remains unknown. There is thus a need for multicenter studies, involving screening for a wide range of mutations in several families and in cases of idiopathic DCM. The present article describes the methodology of a multicenter study, aimed at clinical and molecular characterization of familial DCM patients in the Portuguese population.
- Genetic factors and cardiovascular diseasePublication . Bourbon, M.
- Influence of the APOE genotypes in some atherosclerotic risk factorsPublication . Martins, M. Carmo; Lima Faleiro, L.; Rodrigues, M.O.; Albergaria, I.; Fonseca, A.The aim of this work was to study the distribution of apolipoprotein E (APOE) genotypes and their association with some atherosclerotic risk factors, all of them modifiable: total, HDL and LDL cholesterol, triglycerides, systolic and diastolic blood pressure, BMI, waist circumference and smoking. The sample population was constituted of 672 healthy subjects recruited in the Lisbon area. Lipids were quantified by usual automatic enzymatic methods and the APOE genotypes performed in accordance with Hixson and Vernier. Blood pressure measurement and hypertension classification followed international specifications. The frequency distribution of APOE alleles was: epsilon2 = 6.4%, epsilon3 = 83.6% and epsilon4 = 10.0% and the more prevalent genotypes were epsilon2/epsilon3, epsilon3/epsilon3 and epsilon3/epsilon4 respectively 11.0%, 70.1% and 16.1%. We could only observe associations among the most prevalent genotypes and lipids, always statistically significant, specially when the epsilon4 allele was present which was even proved by an higher prevalence of epsilon4 in dyslipidemic subjects with the only exception of those with low HDL-c values. A stronger intervention in the epsilon4 carriers is so recommended through appropriate intervention measures on the connected modifiable risk factors.
- Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratificationPublication . 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, in Portugal, this disease is severely under-diagnosed. After more than 10 years of research through the Portuguese FH Study, it is now possible to translate the original research results into clinical application. AIMS: The main aims of the present work were to determine whether clinical characterization is sufficient to identify these individuals at high risk of developing CHD and to evaluate the clinical applicability of molecular diagnosis for FH. METHODS: All patients described in this study were recruited for the Portuguese FH Study. The diagnostic criteria used to select the index patients were adapted from the Simon Broome Heart Research Trust. To analyze the usefulness of the molecular diagnosis, graphs of total and LDL cholesterol values by age were constructed for 622 possible FH patients. The lipid profile of patients genetically identified as having FH, before and under medication, were analyzed to assess whether these patients were receiving appropriate treatment. The data are shown separately for children and adults and for female and male propositi (index cases and hypercholesterolemic relatives), both with and without a detectable mutation in the LDLR gene. RESULTS: The Portuguese FH Study has already genetically identified 404 individuals (171 index patients and 233 relatives) among more than one thousand individuals sent for study. A total of 78 different mutations in the LDLR gene were found in 171 index patients, 2 different mutations were found in the apoB gene of 4 patients and 2 patients had a unique PCSK9 mutation. Statistical analysis revealed that there are significant differences between total cholesterol (p < 0.001) and apoB (p = 0.026) values in the group of children (male and female) with and without a mutation in LDLR. For female children LDL values were also significantly different (p < 0.001) between subgroups but for male children this difference did not reach statistical significance. In adult women there is a statistically significant difference for total cholesterol (p = 0.049), LDL cholesterol (p = 0.031) and apoB (p = 0.003) values in the subgroups with and without a LDLR mutation. In adult males there is a statistical difference for total cholesterol (p = 0.002). LDL cholesterol (p = 0.003) and apoB (p = 0.0023) in subgroups with and without an LDLR mutation. Nevertheless there was considerable dispersion of values and individually it is not possible to distinguish between patients with and without a mutation in the LDLR gene, based only on lipid profile. CONCLUSIONS: By analysis of the clinical data of 696 possible FH patients, the present report shows evidence that clinical characterization is not sufficient to distinguish between patients with genetic or environmental dyslipidemia, and so molecular diagnosis is useful in clinical practice, allowing correct identification of FH patients and their relatives, and the early implementation of therapeutic measures to reduce the elevated cardiovascular risk of these patients. In general, molecular diagnosis of FH is feasible and could be obtained in 1-2 months if the technology is available. In Portugal the test will be offered to the population by our Institute at a cost of about 500 euros, like many other genetic tests or exams such as nuclear magnetic resonance.
- Association of gamma glutamyltransferase, metabolic syndrome and cardiovascular riskPublication . Martins, M.C.; Faleiro, L.L.; Afonso, B.; Fonseca, A.Serum gamma-glutamyl transferase (GGT) has been used as a marker of alcohol induced liver disease. Recent epidemiology and pathology studies have suggested its independent role in the pathogenesis and clinical evolution of cardiovascular diseases (CVD) promoting atherosclerosis through an oxidative process leading, within the atherosclerotic plaque, to LDL oxidation, metalloproteinase activation, cell proliferation and apoptosis. Besides it is known that GGT levels rise even in the normal range, with obesity and hepatic steatosis occurs, it is thought, which originates insulin resistance (IR). Being sure that IR is important in the development of type 2 diabetes and CVD, both very prevalent in Portugal, the authors considered as relevant to study the association of GGT with markers of multiple metabolic derangements: insulin-resistance (hyperinsulinemia, hyperglicemia, IR-HOMA = 3), obesity and dyslipidemia. So, a Portuguese sample population, consisted of 123 subjects (52 male and 71 female) was organized. As results were observed: elevation of GGT serum levels with the increasing risk of every marker and the same happened with metabolic syndrome and its components; compared with non obese the group of obese subjects exhibited elevated prevalence of risk factors, though in non obese subjects the percentages of insulin-resistance and dyslipidemias were high (hypercholesterolemia in both sexes, hypertriglyceridemia and low concentrations of HDL-c in men); association of serum GGT levels with every risk factor and metabolic syndrome. Though, as the association with the insulin-resistance state was particularly strong, it is thought that a high prevalence of non-alcoholic fatty liver disease (NAFLD) was present in the studied population. As serum determination of GGT activity is a low-cost, highly sensitive, accurate and frequently used laboratory test and there is association of this enzyme with the most important risk factors of diabetes type 2 and CVD, its serum levels should be considered as a marker of insulin-resistance when NAFLD is supposed to be present or there is obesity.
- Perfil de risco cardiovascular de estudantes do ensino secundárioPublication . Rocha, T.; Alves, A.; Medeiros, A.; Francisco, V.; Silva, S.; Guiomar, S.; Paixão, E.; Gaspar, I.; Rato, Q.; Bourbon, M.
- Pilot Study in the view of a Pan-European Dietary Survey – Adolescents, adults and the elderly (PANEU) – fase piloto do Inquérito Alimentar Europeu (EU-Menu)Publication . Sofia, Guiomar; Rodrigues, Teresa; Cruz, Cristina; Vilela, Sofia; Lopes, Carla; Torres, Duarte
- Relação entre a leptina, a massa corporal e a síndrome metabólica numa amostra da população adultaPublication . Martins, M.C.; Lima Faleiro, L.; Fonseca, A.Objetivo Estudar a relação que a leptina tem com a obesidade (expressa em índice de massa corporal) e alguns componentes da síndrome metabólica (SM) numa amostra da população adulta. População e métodos Em 103 indivíduos, 42 homens e 61 mulheres, com idades superiores a 30 anos, clinicamente definidos como não diabéticos mas com patologia cardiovascular e/ou antecedentes familiares de doenças cardiovasculares (DCV), determinaram-se, além da leptina, a insulina, a glicemia em jejum e após ingestão de 75g de glicose, HDL-c, triglicéridos e calcularam-se os índices de resistência à insulina (IR-HOMA) e de massa corporal (IMC). Resultados O IMC, tomado como índice de obesidade geral, condicionou os níveis séricos da leptina. O IMC subiu, em ambos os sexos, à medida que os níveis séricos da leptina se elevaram do 1.° para o 3.° tercil da respetiva distribuição. Foi muito forte a correlação leptina/IMC com r=0,524 nos homens e r=0,603 nas mulheres, significância estatística elevada. Na previsão da hiperleptinemia, a posição cimeira foi assumida pelo IMC com AUC (area under curve) de 0,81 nos homens e 0,84 nas mulheres. Ao avaliar-se a magnitude da associação da leptina aos diferentes fatores de risco (regressão logística binária univariada) observaram-se valores muito altos de odds ratio (OR) para a relação leptina/IMC, em ambos os sexos (10,11 nos homens e 6,00 nas mulheres).Verificou-se mesmo (regressão logística multivariada) que a hiperleptinemia foi condicionada, em ambos os sexos, pela obesidade com OR de 9,30 nos homens e 8,1 nas mulheres, considerando IMC ≥ 30 kg/m2. - A hiperinsulinemia e a IR influenciaram profundamente a hiperleptinemia. Na previsão da IR, a leptina surgiu, em ambos os sexos, como primeiro elemento (AUC=0,89 nos homens e 0,85 nas mulheres) e, na previsão da hiperleptinemia, vêm logo a seguir à obesidade (IMC), a IR nos homens e a hiperinsulinémia nas mulheres com AUC respetivamente de 0,79 e 0,78. Foram fortes as correlações leptina/IR-HOMA e leptina/insulina, em ambos os sexos e enorme a influência que nos homens teve a hiperinsulinémia (OR=11,71) e a IR nas mulheres (OR=21,22). - Relativamente aos componentes da SM: Observou-se elevação dos respetivos níveis séricos, à medida que as concentrações da leptina subiram do 1.° para o 3.° tercil da respetiva distribuição (com exceção do HDL-c, que desceu). Conclusão O aumento da leptina sérica, sobretudo nos indivíduos obesos, deve constituir sinal de alerta para desiquilíbrios energéticos e do regimen alimentar, para a existência de hiperinsulinemia, de IR, de alterações em outros fatores de risco metabólicos que têm profunda influência nas DCV e diabetes tipo 2.