Percorrer por autor "Antunes, M."
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- 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.
- ICT-Supported Interventions Targeting Pre-frailty: Healthcare Recommendations from the Personalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) StudyPublication . O’Caoimh, R.; Molloy, D.W.; Fitzgerald, C.; Velsen, L.V.; Cabrita, M.; Nassabi, M.H.; Vette, F.; van Weering, M.D.; Jansen-Kosterink, S.; Kenter, W.; Frazer, S.; Rauter, A.P.; Turkman, A.; Antunes, M.; Turkman, F.; Silva, M.S.; Martins, A.; Costa, H.S.; Albuquerque, T.G.; Ferreira, A.; Scherillo, M.; De Luca, V.; Abete, P.; Colao, A.; García-Rudolph, A.; Sanchez-Carrion, R.; Sánchez, J.S.; Aguilera, E.J.G.; Illario, M.; Hermens, H.; Vollenbroek-Hutten, M.As society ages, healthcare systems are preparing for an increasing prevalence of frail, co-morbid and older community-dwellers at risk of adverse outcomes including falls, malnutrition, hospitalisation, institutionalisation and death. Early intervention is desirable and pre-frailty, before onset of functional decline, may represent a suitable transition stage to target, albeit evidence for reversibility and appropriate interventions are limited. No consensus on the definition, diagnosis or management of pre-frailty exists. This work describes 25 healthcare related findings from the recently completed PERsonalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) project, funded under the 2013–2016 European Union Framework Programme 7 (grant #610359). PERSSILAA developed a comprehensive Information and Communication Technologies (ICT)-supported platform to screen, assess, intervene and then monitor community-dwellers in two regions (Enschede in the Netherlands and Campania in Italy) in order to address pre-frailty and promote active and healthy ageing, targeting three important pre-frailty subdomains: nutrition, cognition and physical function. Proposed definitions of pre-frailty, ICT-based approaches to screen and monitor for the onset of frailty and targeted management strategies employing technology across these domains are described. The potential of these 25 healthcare recommendations in the development of future European guidelines on the screening and prevention of frailty is explored.
- NUTRIAGEING: combining science, cooking and agriculturePublication . Silva, M.S.; Ferreira, A.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Silva, M.A.; Sanches-Silva, A.; Martins, A.; Turkman, A.; Turkman, F.; Antunes, M.; Rauter, A.P.There are three main behavior traits that have been associated with human health status: to be physically active, to be mentally active and to eat well. These are the main topics addressed by PERSSILAA, an European Project focused on the development and validation of a new service model, to screen for and prevent frailty in older adults, integrating nutrition, physical and cognitive function. Nutrition plays an important role all over our life span, especially in older adults. The importance of nutrition education and the impact of consumer misinformation about the benefits of these food choices becomes clear with the recognition that nutritional status influences the rate of physiologic and functional decline with age. Helping people to choose more nutritive food that will contribute to maintain good health, improve their cognitive function, increase their energy levels and prevent their frailty. There are several available websites related to nutrition targeting the older adult population. However, some are not user friendly and eHealth literacy is still seen as a major obstacle to the uptake of ICT technologies in the health sector. The development of an interactive and user-friendly website providing information, advice and simple services focused on the nutritional status of elderly people, was a most needed task. The NUTRIAGEING website has emerged to address this need. It was created to be a major platform for the transfer of scientific knowledge into advice to the general public, integrated in the PERSSILAA platform. It will offer several modules to promote healthier nutrition, to educate the population on how to improve food habits, and on how to grow a vegetable garden. It will be structured around healthy eating, cooking recipes with videos, and vegetable gardens.
- PERSSILAA Project-An Innovative Approach to Nutritional Education for Older AdultsPublication . Martins, A.; Turkman, A.; Ferreira, A.; Turkman, F.; Antunes, M.; Silva, M.S.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vollenbroek-Hutten, M.; Rauter, A.P.Demographic ageing is a global trend and frailty is highly prevalent among older adults, which constitutes a major health problem. PERSSILAA (PERsonalised ICT Supported Service for Independent Living and Active Ageing) is a unique European project that develops and validates a new service model, to screen for and prevent frailty in community dwelling older adults. This multimodal service integrates nutrition, physical and cognitive function and is supported by an interoperable ICT service infrastructure. A multidisciplinary team from 5 countries, The Netherlands, Spain, Italy, Portugal and Ireland, is providing a unique combination of skills to develop remote services for screening, monitoring and training modules aiming to contribute to good health habits on the nutritional, physical and cognitive domains. This communication will give a special focus to the work developed by the Portuguese team in this project, comprising also the design of an interactive nutrition website.
- Pharmacogenomic Risk Profiling of Statin Response in Portuguese Familial Hypercholesterolemia and General Population CohortsPublication . Chora, Joana Rita; Grade, M. M.; Antunes, M.; Bourbon, M.Background/Aims: Genetic variants in pharmacogenes involved in statin transport, metabolism, and excretion can increase the risk of adverse effects, particularly statin-associated musculoskeletal symptoms (SAMS). Loss-of-function haplotypes in SLCO1B1 are reliably linked to elevated SAMS risk. Familial hypercholesterolemia (FH), a high cardiovascular disease risk condition, requires lifelong lipid-lowering therapy, often from a young age. However, studies of statin pharmacogenomics in FH patients remain scarce. The Portuguese population, shaped by millennia of admixture, displays a complex genetic background with potential implications for pharmacogenomic diversity. This study aimed to assess the prevalence of high-risk alleles in genes related to statin metabolism and transport, including variants relevant to therapeutic efficacy, in both the general Portuguese population and FH patients. Methods: We analysed 738 adults from the nationally representative e_Cor cohort and 489 clinical FH patients. Genotyping of 13 statin-related single-nucleotide variants (SNV) was conducted using both OpenArrayTM technology and NGS target sequencing. Statin-medicated individuals from both cohorts (N=903) were further analysed for pharmacogenomic risk. Results: Compared to public databases, the frequency of the APOE rs429358 risk allele was significantly lower in the general Portuguese cohort, but significantly higher in statin-medicated individuals and FH patients. Genotype distributions of SLCO1B1, ABCB1, HMGCR, and MTHFR SNVs differed significantly between medicated individuals from the general population and FH patients. Among all participants, 2% had SLCO1B1 poor-function and 22% decreased-function haplotypes; these frequencies were slightly higher in the medicated group (3% and 23%, respectively). Notably, 40% of poor-function and 32% of decreased-function carriers were prescribed a statin dose/type considered high-risk for SAMS. Differences between FH-positive and negative individuals were only observed for APOE rs429358. Conclusion: This study presents a comprehensive overview of statin-related pharmacogenetic variation in the Portuguese population and FH patients. The high prevalence of actionable variants underlines the importance of pharmacogenomic-informed prescribing in high-risk groups. Integrating genetic information into clinical decision-making can optimise statin therapy, mitigate adverse effects, and enhance the effectiveness of personalised lipid-lowering strategies in Portugal.
- The familial hypercholesterolaemia phenotype: monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causesPublication . Mariano, C.; Alves, A.C.; Medeiros, A.; Chora, J.R.; Antunes, M.; Futema, M.; Humphries, S.E.; Bourbon, M.Familial Hypercholesterolaemia (FH) is a monogenic disorder characterised by high LDL-C concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40-50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Methods and Results Between 1999 and 2017, 731 index patients (311 children and 420 adults) who met the Simon Broome diagnostic criteria had been referred to our laboratory. LDLR, APOB, PCSK9, APOE, LIPA, LDLRAP1, ABCG5/8 genes were analysed by PCR amplification and Sanger sequencing. The 6-SNP LDL-C genetic risk score (GRS) for polygenic hypercholesterolaemia was validated in the Portuguese population and cases with a GRS over the 25th percentile were considered to have a high likelihood of polygenic hypercholesterolaemia. An FH-causing mutation was found in 39% of patients (94% in LDLR, 5% APOB and 1% PCSK9), while at least 29% have polygenic hypercholesterolaemia and 1% have other lipid disorders. A genetic cause for the FH phenotype was found in 503 patients (69%). All known causes of the FH phenotype should be investigated in FH cohorts to ensure accurate diagnosis and appropriate management.
- The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causesPublication . Mariano, C.; Medeiros, A.M.; Alves, A.C.; Chora, J.R.; Futema, M.; Humphries, S.E.; Antunes, M.; Bourbon, M.Introduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found.
- The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causesPublication . Mariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, MafaldaFamilial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH.