Browsing by Issue Date, starting with "2022-11-08"
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- Association between grip strength and the risk of heart diseases among European middle-aged and older adultsPublication . Peralta, Miguel; Matias Dias, Carlos; Marques, Adilson; Henriques-Neto, Duarte; Sousa Uva, MafaldaBackground and objective(s): The association between grip strength and heart diseases incidence has been little explored. The aim of this study is to analyse the longitudinal relationship between grip strength and the diagnosis of heart diseases in European middle-aged and older adults. Material and methods: A prospective cohort study was conducted using data from the Survey of Health, Ageing and Retirement in Europe (2004-2017). Participants were 20829 middle-aged and older adults from 12 countries. Grip strenght was measured by a dynamometer and heart diseases diagnosis was self-reported. Incidence rate of heart diseases was calculated and a Cox proportional hazard regression was performed. Results: Heart diseases incidence decreased from 930 per 100 000 person-years in the lowest quartile to 380 per 100 000 person-years in the highest grip strength quartile. During the 13 years of follow-up, compared to being in the lowest grip strength quartile, being in the highest quartile decreased the hazard of being diagnosed with a heart disease in 36% (95% confidence interval [CI]: 0.53, 0.78) for the whole sample, 35% (95% CI: 0.51, 0.84) for men and 46% (95% CI: 0.40, 0.73) for women. Discussion and conclusion(s): Grip strength seems to be inversely associated with the incidence of heart diseases among European middle-aged and older adults. Scientific evidence has highlighted the potential role of grip strength as a risk stratifying measure for heart diseases, suggesting its potential to be included in the cardiovascular risk scores used in primary care. However, further research is still needed to clarify it.
- Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7kb α-thalassemia deletionPublication . Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaThe α-major regulatory element (known as HS-40) has a crucial role in the long-range regulation of the α-globin gene expression. This element is genetically polymorphic and six haplotypes (A to F) have been identified in different populations, with haplotype D almost exclusively found in African populations. This study aimed to identify the HS-40 haplotype associated with the common 3.7kb α-thalassemia deletion (-α3.7del) in the Portuguese population, and investigate its ancestry. We searched for the -α3.7del in 111 selected Portuguese individuals by Gap-PCR. In addition, a DNA fragment containing the HS-40 was amplified by PCR and Sanger sequenced. Statistical analysis was performed using R software. Fifty individuals have the wild-type α-globin genotype (group I), 34 are heterozygous for the -α3.7del (group II) and 27 are homozygous (group III). Regarding the HS-40, four haplotypes were found (A to D). The distribution of HS-40 haplotypes and genotypes are significantly different between groups with and without the -α3.7del (p<0.001), being haplotype D and genotype AD the most prevalent in group III. Furthermore, multiple correspondence analysis revealed that individuals without the -α3.7del are grouped with other European populations, while samples with the -α3.7del are split from these and found more related to the African population. This study revealed for the first time an association of a specific HS-40 haplotype with the -α3.7del in the Portuguese population, and its likely African ancestry. These results may have a clinical importance as in vitro analysis of haplotype D showed a descrease in its enhancer activity on α-globin genes.
- Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants DatabasePublication . Ferreira, M.; Chora, J.R.; Medeiros, A.M.; Bourbon, M.; Alves, A.C.Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing the variant spectrum of APOB.
- 3º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge: livro de resumosPublication . Instituto Nacional de Saúde Doutor Ricardo Jorge, IP; Ribeiro, Diogo; Santos, Juliana Inês; Gonçalves, Vânia; Jordan, PeterLivro de resumos da terceira edição do Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA), um evento que tem como principal objetivo a divulgação do trabalho de investigação realizado na instituição por jovens investigadores com idade inferior a 35 anos, bem como por outros colaboradores que estejam a desenvolver investigação em projetos de mestrado ou doutoramento. Nesta edição será apresentado um conjunto de palestras dedicadas aos temas “Investigação em Saúde e Novas Tecnologias”, “Investigação em Doenças Infeciosas” e “Investigação em Doenças Degenerativas”, proferidas por especialistas de vários departamentos técnico-científicos do INSA, bem como duas conferências sobre “Ser cientista: história e perspetivas para a Ciência em Portugal” e “Desenvolvimento de Carreira e Oportunidades”, proferidas por Carlos Fiolhais (Universidade de Coimbra) e Mariana Santa-Marta (Instituto Superior Técnico – Universidade de Lisboa), respetivamente. O Dia do Jovem Investigador é uma iniciativa conjunta do Conselho Diretivo, do Conselho Científico e da Comissão organizadora do INSA ConVida e visa proporcionar a todos os interessados o contacto direto com a produção científica e tecnológica dos jovens investigadores do INSA, dando a conhecer o seu contributo a este Instituto, enquanto Laboratório do Estado no setor da Saúde, laboratório nacional de referência e observatório nacional de saúde.
- Effect of the microenvironment on alternative splicing in colorectal cellsPublication . Pereira, JoanaAbout effect of the microenvironment on alternative splicing in colorectal cells.
- EASO and EFAD Position Statement on Medical Nutrition Therapy for the Management of Overweight and Obesity in Children and AdolescentsPublication . Hassapidou, Maria; Duncanson, Kerith; Shrewsbury, Vanessa; Ells, Louisa; Mulrooney, Hilda; Androutsos, Odysseas; Vlassopoulos, Antonis; Rito, Ana; Farpourt, Nathalie; Brown, Tamara; Douglas, Pauline; Ramos Sallas, Ximena; Woodward, Euan; Collins, ClareIntroduction: This position statement on medical nutrition therapy in the management of overweight or obesity in children and adolescents was prepared by an expert committee convened by the European Association for the Study of Obesity (EASO) and developed in collaboration with the European Federation of the Associations of Dietitians (EFAD). Methods: It is based on the best evidence available from systematic reviews of randomized controlled trials on child and adolescent overweight and obesity treatment and other relevant peer-reviewed literature. Results: Multicomponent behavioural interventions are generally considered to be the gold standard treatment for children and adolescents living with obesity. The evidence presented in this position statement confirms that dietary interventions can effectively improve adiposity-related outcomes. Dietary strategies should focus on the reduction of total energy intake through promotion of food-based guidelines that target modification of usual eating patterns and behaviours. These should target increasing intakes of nutrient-rich foods with a lower energy density, specifically vegetables and fruits, and a reduction in intakes of energy-dense nutrient-poor foods and beverages. In addition, higher intensity, longer duration treatments, delivered by interventionists with specialized dietetic-related skills and co-designed with families, are associated with greater treatment effects. Discussion: Such interventions should be resourced adequately so that they can be implemented in a range of settings and in different formats, including digital or online delivery, to enhance accessibilit
- The disease modelling value of baby teeth: A new way to unlock knowledge about a special group of genetic disordersPublication . Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; Encarnação, Marisa; Ribeiro, Diogo; Duarte, Ana Joana; Prata, Maria João; Coutinho, Maria Francisca; Alves, SandraMucopolysaccharidoses (MPS), are a group of genetic, metabolic, and rare diseases investigated since the early years of the 20th century. One of the first steps to collect information about the underlying mechanisms of those disorders is the development and analysis of in vitro models. Furthermore, those models provide an appropriate platform for the evaluation of future therapeutics. Among all the possible disease cell models, patient-derived ones are those which allow us to get better disease insights. However, finding the best cell type that recapitulates diseaserelevant features is not always easy: two systems largely involved in MPS pathology are the brain and the musculoskeletal ones, which reflects an issue once both are hard to access. Here, our main goal is to establish an innovative non-invasive method to generate disease-relevant cell models from stem cells from deciduous (baby) teeth (SHED), which may then be differentiated into our MPS-target cell lines. So far, we have already implemented and optimized the protocol for collection, isolation, establishment and cryopreservation of those stem cells. Then, our rationale is simple: for those obtained from MPS patients suffering from multisystemic disease with marked musculoskeletal alterations, we are using a chondrogenesis differentiation protocol. For those derived from patients with neurological pathology, we will establish mixed neuronal/glial cultures. As soon as we can get the SHED-derived differentiated cells, various cellular and molecular processes from our target disorders may be unveiled and used as a target for possible future therapeutics. Acknowledgements This work is partially supported by the Portuguese Society for Metabolic Disorders (SPDM - Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018;2019DGH1629/SPDM2018I&D), Sanfilippo Children's Foundation (2019DGH1656/SCF2019I&D) and FCT (EXPL/BTM-SAL/0659/2021).
- Healthcare professionals’ psychological distress, risk and protective mental health factors after two years of COVID-19 pandemic in PortugalPublication . Costa, Alexandra; Almeida, Teresa Caldas de; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid; Heitor, Maria JoãoThe COVID-19 pandemic increased psychosocial riskfactors among healthcare professionals (HCP). The main objective was to characterize Portuguese HCP’s mental health (MH) outcomes, estimating the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD) and burnout, and identifying risk and protective factors.
- Mass Spectrometry-Based Proteomic and Metabolomic Profiling of Serum Samples for Discovery and Validation of Tuberculosis Diagnostic Biomarker SignaturePublication . Fernandes, Ana Filipa; Gonçalves, Luís Gafeira; Bento, Maria; Anjo, Sandra I.; Manadas, Bruno; Barroso, Clara; Villar, Miguel; Macedo, Rita; Simões, Maria João; Coelho, Ana VarelaTuberculosis (TB) is a transmissible disease listed as one of the 10 leading causes of death worldwide (10 million infected in 2019). A swift and precise diagnosis is essential to forestall its transmission, for which the discovery of effective diagnostic biomarkers is crucial. In this study, we aimed to discover molecular biomarkers for the early diagnosis of tuberculosis. Two independent cohorts comprising 29 and 34 subjects were assayed by proteomics, and 49 were included for metabolomic analysis. All subjects were arranged into three experimental groups-healthy controls (controls), latent TB infection (LTBI), and TB patients. LC-MS/MS blood serum protein and metabolite levels were submitted to univariate, multivariate, and ROC analysis. From the 149 proteins quantified in the discovery set, 25 were found to be differentially abundant between controls and TB patients. The AUC, specificity, and sensitivity, determined by ROC statistical analysis of the model composed of four of these proteins considering both proteomic sets, were 0.96, 93%, and 91%, respectively. The five metabolites (9-methyluric acid, indole-3-lactic acid, trans-3-indoleacrylic acid, hexanoylglycine, and N-acetyl-L-leucine) that better discriminate the control and TB patient groups (VIP > 1.75) from a total of 92 metabolites quantified in both ionization modes were submitted to ROC analysis. An AUC = 1 was determined, with all samples being correctly assigned to the respective experimental group. An integrated ROC analysis enrolling one protein and four metabolites was also performed for the common control and TB patients in the proteomic and metabolomic groups. This combined signature correctly assigned the 12 controls and 12 patients used only for prediction (AUC = 1, specificity = 100%, and sensitivity = 100%). This multiomics approach revealed a biomarker signature for tuberculosis diagnosis that could be potentially used for developing a point-of-care diagnosis clinical test.