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Association of Obesity-Related Genetic Variants with Android Fat Patterning and...

Sá, Débora; Mendonça, Maria Isabel; Sá, Débora; Sousa, Francisco; Abreu, Gonçalo; Ferreira, Matilde; Henriques, Eva; Freitas, Sónia; Rodrigues, Mariana

Background/Objectives: The location and distribution of excess fat, rather than overall adiposity, are stronger predictors of cardiometabolic risk and are commonly assessed using the waist-to-hip ratio (WHR). Fat distribution in women has a heritable component, yet the genetic factors that influence it remain poorly understood. We aim to assess the association between obesity-related polymorphisms with WHR and ...


Unraveling the genetic basis of subclinical atherosclerosis

Sá, Débora; Mendonça, Maria Isabel; Serrão, Marco; Sousa, Francisco; Abreu, Gonçalo; Henriques, Eva; Borges, Sofia; Freitas, Sónia; Rodrigues, Mariana

Introduction and objectives: Decoding the genetic basis of coronary artery disease (CAD) through an intermediate phenotype – coronary calcification – can help us to better understand this deadly disease and enable the creation of better therapeutic strategies. This work aims to assess the relationship between a set of single nucleotide polymorphisms (SNPs) previously associated with CAD and coronary artery calc...


Validation of the SCORE2 risk prediction algorithm in a Portuguese population

Temtem, Margarida; Mendonça, Maria Isabel; Santos, Marina; Sá, Débora; Sousa, Francisco; Freitas, Sónia; Borges, Sofia; Henriques, Eva

Introduction and Objectives: Subjects without cardiovascular (CV) disease (CVD) may suffer from subclinical atherosclerosis, and are at increased risk for atherosclerotic CV events (ASCVE). The ESC/EAS risk SCORE was updated by SCORE2, which estimates 10-year risk of fatal and non-fatal CVD in European populations aged 40–69 years without established CVD or diabetes. Our aim was to compare the two ESC/EAS risk ...


Impact of genetic information on coronary disease risk in Madeira

Mendonça, Maria Isabel; Pereira, Andreia; Monteiro, Joel; Sousa, João Adriano; Santos, Marina; Temtem, Margarida; Borges, Sofia; Henriques, Eva

INTRODUCTION: Coronary artery disease (CAD), characterized by an atherogenic process in the coronary arteries, is one of the leading causes of death in Madeira. The GENEMACOR (GENEs in MAdeira and CORonary Disease) study sought to investigate the main risk factors - environmental and genetic - and estimate whether a genetic risk score (GRS) improves CAD prediction, discrimination and reclassification. METHODS: ...


Epicardial adipose tissue is a promising imaging biomarker of subclinical ather...

Mendonça, Maria Isabel; Sousa, João Adriano; Serrão, Marco; Santos, Marina; Temtem, Margarida; Sá, Débora; Sousa, Francisco; Henriques, Eva

Identifying markers to discriminate high and low-risk individuals better is essential. Coronary Calcium Score (CAC) is an established marker of subclinical atherosclerosis. Epicardial Adipose Tissue (EAT), a new imaging biomarker, has shown considerable interest in the scientific community.


Differences in the volatilomic urinary biosignature of prostate cancer patients...

Riccio, Giulia; Berenguer, Cristina V.; Perestrelo, Rosa; Pereira, Ferdinando; Berenguer, Pedro; Ornelas, Cristina P.; Sousa, Ana Célia

<jats:p>Prostate cancer (PCa) continues to be the second most common malignant tumour and the main cause of oncological death in men. Investigating endogenous volatile organic metabolites (VOMs) produced by various metabolic pathways is emerging as a novel, effective, and non-invasive source of information to establish the volatilomic biosignature of PCa. In this study, headspace solid-phase microextraction com...


WITHDRAWN

Mendonça, Maria Isabel; Pereira, Andreia; Monteiro, Joel; Sousa, João Adriano; Santos, Marina; Temtem, Margarida; Borges, Sofia; Henriques, Eva

The Publisher regrets that this article is an accidental duplication of an article that has already been published, 10.1016/j.repc.2022.10.005. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.


Genetic information improves the prediction of major adverse cardiovascular eve...

Mendonca, Maria Isabel; Henriques, Eva; Borges, Sofia; Sousa, Ana Célia; Pereira, Andreia; Santos, Marina; Temtem, Margarida; Freitas, Sónia

The inclusion of a genetic risk score (GRS) can modify the risk prediction of coronary artery disease (CAD), providing an advantage over the use of traditional models. The predictive value of the genetic information on the recurrence of major adverse cardiovascular events (MACE) remains controversial. A total of 33 genetic variants previously associated with CAD were genotyped in 1587 CAD patients from the GENE...



Polimorfismos Genéticos Associados ao Aparecimento de Hipertensão Arterial Numa...

Sousa, Ana Célia; Palma dos Reis, Roberto; Pereira, Andreia; Borges, Sofia; Freitas, Ana Isabel; Guerra, Graça; Gouveia, Sara; Góis, Teresa

Introdução: A hipertensão arterial é uma doença complexa, multifatorial, controlada por fatores genéticos e ambientais. Objetivo: Avaliar a susceptibilidade genética no aparecimento de hipertensão arterial e sua associação com os fatores de risco tradicionais na eclosão desta patologia. Material e Métodos: Estudo caso-controlo com 1712 indivíduos, idade média de 51,0 ± 7,9 anos (860 hipertensos e 852 controlos)...


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