Browsing by Author "Mariano, Cibelle"
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- Avaliação da função tiroideia na população adulta portuguesaPublication . Ramos, Teresa; Mariano, Cibelle; Bourbon, MafaldaA Disfunção Tiroideia (DT) nas suas múltiplas formas patológicas, constitui um importante problema de saúde, geralmente subdiagnosticada, com uma prevalência estimada de 4-8%. A determinação da concentração de TSH em combinação com as frações FT4 e FT3 constitui o procedimento laboratorial principal para obter a informação precisa sobre a função tiroideia (FT). Neste trabalho, fez-se uma avaliação da FT na população portuguesa, baseada na amostragem do estudo e_COR, através do doseamento da TSH e da FT4 em 1673 indivíduos, distribuídos pelas 5 regiões de Portugal continental. A média destes dois parâmetros e a percentagem de indivíduos com TSH e FT4 com valores fora do intervalo de referência, foram avaliados de forma a obter uma estimativa da DT associada a critérios de hipo e hipertiroidismo. De acordo com estes critérios, obteve-se 7,77% de indivíduos com hipotiroidismo subclínico (4,00% mulheres e 3,77% homens) e 5,86% com FT4 diminuída (3,83% mulheres e 2,03% homens). Por outro lado, obteve-se 0,54% com hipertiroidismo subclínico e 1,44% com FT4 aumentada. Estas percentagens estão no geral em concordância com a literatura, e a elevada percentagem de hipotiroidismo subclínico mostra a importância da avaliação da FT na população pois constitui risco de desenvolvimento de hipotiroidismo clínico e suas consequências.
- Characterisation of the lipid profile of the portuguese populationPublication . Mariano, CibelleCardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important role.
- Characterisation of the Lipid Profile of the Portuguese PopulationPublication . Mariano, Cibelle; Antunes, Marília; Bourbon, MafaldaCardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important roles. The incidence rates of these diseases are increasing in developing countries as a result of the modification of lifestyles and increased prevalence of cardiovascular risk factors. Many independent cardiovascular risk factors could be modifiable, in contrast to the genetic risk factors. However, the associated risk of the genetic factors can be prevented if early identified, making genetic studies a priority in cardiovascular genetics research.
- Characterisation of the Lipid Profile of the Portuguese PopulationPublication . Mariano, CibelleCardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide. The common forms of CVD have a complex aetiology in which interactions between multiple genetic and environmental factors play an important role.
- e_LIPID–Characterization of hypercholesterolemia and association with cardiovascular disease in the Portuguese populationPublication . Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Antunes, Marília; Rato, Quitéria; Bourbon, MafaldaThe e_LIPID study aimed to characterise the lipid profile of the Portuguese population and study its association with cardiovascular disease (CV D) events. Demographic, clinical, and biochemical data derived from the e_COR Study, a cross-sectional epidemiological study with 1688 adults (18-79 years old) from five Portuguese continental regions. Population specific percentiles for lipid and lipoprotein biomarkers were esmated stratified by sex and age. All calculations were weighted by sex, age, and geographic region to be representative of the mainland Portuguese population. Odds ratio was calculated to study association of biochemical profile with CV D. Associations of total cholesterol (TC), LDL, ApoB and non-HDL were performed only on individuals under no lipid-lowering therapy. Individuals with LDL above the 9th5 percentile and fulfilling Simon-Broome criteria of Familial Hypercholesterolemia (FH) were sequenced for LDLR, APOB and PCSK9. National prevalence of individuals with TC≥190mg/dl were 52.4%, with LDL≥116mg/dl were 53.9%, with ApoB≥90mg/dl were 53.8%, with non- HDL≥146mg/dl were 38.9%, and with Lp(a)≥125nmol/L were 21.1%. The 90th percentile for lipid and lipoprotein biomarkers for the Portuguese population are TC of 244mg/dl, LDL of 169mg/dl, ApoB of 128mg/dl, non-HDL of 193mg/dl, and Lp(a) of 223nmol/L. The 10th percentile for HDL is 38mg/dl. Individuals with LDL≥116mg/dl presented 2.50 [1.13-6.07] higher odds of having had CV D events (p=0.018), with non-HDL≥146mg/dl had 2.06 [1.01-4.31] higher odds (p=0.041), and with high Lp(a)≥125nmol/L had 1.77 [1.13-2.72] higher odds (p=0.008) than their respective counterparts. From the 33 individuals sequenced 3 individuals were found to have heterozygous FH. Population age and sex specific values are important for dyslipidaemia assessment. Having LDL≥116mg/dl, non-HDL≥146mg/dl or Lp(a) ≥125nmol/L can double the odds of CV D. Our results highlight that hypercholesterolemia is a neglected cardiovascular risk factor with more than 50% of the population with TC≥190mg/dl, LDL≥116mg/dl, or ApoB≥90mg/dl. Since hypercholesterolemia is a modifiable risk factor in the majority of cases, strategies to increase adherence to changes in lifestyle habits need to be urgently discussed.
- e_LIPID: caraterização do perfil lipídico da população portuguesaPublication . Mariano, Cibelle; Antunes, Marília; Rato, Quitéria; Bourbon, MafaldaObjetivo: O estudo e_COR foi desenvolvido com o objetivo de determinar a prevalência dos principais fatores de risco cardiovascular na população portuguesa, com especial enfoque na dislipidemia e na caraterização genética do risco cardiovascular. Participaram 1688 indivíduos (848 homens e 840 mulheres, com idade entre os 18 e 79 anos) distribuídos pelas regiões Norte, Centro, Lisboa, Alentejo e Algarve. Aqui apresentam-se os resultados do estudo paralelo e_LIPID, que pretendeu determinar o perfil lipídico da população portuguesa
- e_LIPID: Characterisation of the Lipid Profile in the Portuguese PopulationPublication . Mariano, Cibelle; Antunes, M.; Rato, Q.; Bourbon, MafaldaAIM: 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 identification is of great importance in order to implement specific interventions, especially for CVD prevention. The aim of this study was the construction of population specific lipid percentiles and the to present the characterization of the dyslipidaemia in the Portuguese population.
- Portuguese Lipid Study (e_LIPID)Publication . Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quitéria; Antunes, Marília; Bourbon, MafaldaBackground/Objectives: Incidence of cardiovascular disease (CVD) is increasing in low- and middle-income countries because of changing lifestyles. Since dyslipidaemia is a major independent cardiovascular risk factor, its correct identification is critical to implement specific interventions for CVD prevention. This study aimed to characterise the lipid profile of the Portuguese population. Methods: Overall, 1688 individuals from the general population (e_COR study, 2012-2014) were included. Population-specific percentiles for ten lipid biomarkers were estimated by bootstrapping methods to ensure national representativity. Statistical analyses were performed using RStudio. Results: The 50th percentile estimated for total cholesterol (TC), LDL-C, and non-HDL-C are similar to scientific societies recommended values for the general (low or moderate risk) population. National prevalence of having lipid parameters above recommended values was 64.6%, 66.9%, 51.3%, 68.9%, 17.8%, and 21.1% for TC, LDL-C, apoB, non-HDL-C, triglycerides, and Lp(a), respectively; these values are generally higher in men and increasing with age, except for Lp(a). A high prevalence of severe dyslipidaemia (>90th percentile) was identified, highest for small dense LDL-C (31.3%), apoB (30.4%), and LDL-C (30.3%). The national prevalence of CVD events was 5%. Three individuals were genetically identified with familial hypercholesterolemia, a high CVD risk condition. Conclusions: We provide for the first-time lipid biomarker percentiles for the general Portuguese population. Our results highlight that hypercholesterolemia is a neglected cardiovascular risk factor with over half of the population with TC, LDL-C, and apoB above recommended values. Since hypercholesterolemia is a modifiable risk factor, strategies to increase adherence to changes in lifestyle habits and medication need to be urgently discussed.
- sdLDL como potencial biomarcador no diagnóstico e prevenção de doença cardiovascular em diabéticosPublication . Raimundo, Ana; Mariano, Cibelle; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, MafaldaAs doenças cardiovasculares (DCV) são a principal causa de morbilidade e mortalidade a nível mundial. De entre os fatores de risco conhecidos para as DCV, destacam-se a dislipidemia, a hipertensão, a diabetes e o excesso de peso/obesidade. As lipoproteínas de baixa densidade (LDL) constituem um dos marcadores bioquímicos recomendados para diagnosticar as DCV. No entanto, as lipoproteínas mais pequenas e mais densas - small dense LDL (sdLDL) - parecem ter um efeito mais aterogénico, refletindo-se num risco acrescido de DCV. O doseamento de sdLDL tem demonstrado em diferentes estudos um aumento da sua concentração em indivíduos com Diabetes Mellitus do tipo 2. Este estudo pretende investigar esta associação na população portuguesa, tendo por base uma população do estudo e_COR. Foram determinados alguns parâmetros bioquímicos no sangue e reunidos dados clínicos através de questionários. As análises estatísticas foram realizadas através do programa IMB SPSS Statistics 22. Os resultados deste estudo evidenciaram que os indivíduos diabéticos apresentam níveis de sdLDL superiores aos não diabéticos, registando-se uma forte associação entre o rácio sdLDL/LDL e a diabetes. A determinação deste rácio pode vir assim a ser considerada como um potencial biomarcador para diagnóstico de DCV em diabéticos, embora sejam necessários mais estudos epidemiológicos para uma conclusão mais definitiva.
- System Biology Approach for Cardiovascular MedicinePublication . Mariano, Cibelle; Antunes, Marília; Bourbon, MafaldaObjectives: This research project proposes the study of associaFons and/or interacFons between geneFc, nongeneFc and environmental factors and its effects on a very important dyslipidaemia marker, apolipoprotein B (apoB) levels, by modelling geneFc predisposiFon, biological and environmental components (such as lifestyle and behavioral variables) with apoB serum levels. It is also proposed the characterisaFon of the lipid and geneFc cardiovascular risk profiles of the Portuguese populaFon, as well as the correlaFon between dyslipidaemia and other cardiovascular risks and biochemical markers.