DPSPDNT - Apresentações orais em encontros internacionais
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- PROPHET - PeRsOnalized prevention roadmap for the future HEalThcare: Task N° 3.2. Identification and validation of the best framework to appraise and adopt personalized preventive approachesPublication . Vicente, Astrid MouraSobre a Task N° 3.2. Identification and validation of the best framework to appraise and adopt personalized preventive approaches do Projeto PROPHET - PeRsOnalized prevention roadmap for the future HEalThcare.
- Distress among healthcare professionals during the first two years of COVID-19 pandemic in PortugalPublication . Costa, Alexandra; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid; Heitor, Maria JoãoThe COVID-19 pandemic increased existing psychosocial risk factors among healthcare professionals (HCPs). Integrated into a wider project, the main objective of this study was to characterize Portuguese HCPs mental health (MH), estimate the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD), and burnout, and identify risk and protective factors. Methods: A cross-sectional online survey and a longitudinal assessment were conducted in 2020 (T0) and 2021 (T1). Sociodemographic and occupational variables, as well as protection behaviors and pandemic-context data were collected from a large non-probabilistic sample of HCPs in Portugal. MH outcomes were assessed using instruments with sound psychometric properties. Risk and protective factors were evaluated through simple and multiple logistic regression models. Results: A total of 2027 HCPs participated in the survey in T0; 1843 in T1. Despite the percentage of moderate to severe symptoms had decreased from T0 to T1: 26.1% and 23.3% for anxiety (T0 and T1, respectively; p = 0.028), 25.3% and 23.7% for depression, 22.7% and 19.1% for PTSD (p = 0.003), and 29.8% to 29.5% for burnout, a considerable proportion of HCPs reported symptoms of distress in both years. Being a woman, working in a COVID-19-treatment frontline position and the perception of work-life imbalance increased the odds of distress (in both T0 and T1), whilst high resilience, good social/family support, and hobbies/lifestyle maintenance were found to be MH protective factors. Conclusions: The longitudinal approach of our study allowed following-up changes in HCPs mental health and show that performing as an HCP during the pandemic may result in long-term effects on MH. Our results also provide evidence to support interventions targeting gender and professional sub-groups. Further studies are needed to understand the potential long-lasting psychological burden related to COVID-19 among HCPs.
- ABCG5 and ABCG8 variants associated to sitosterolemia in ClinVar – state of artPublication . Miranda, Beatriz Raposo; Alves, Ana Catarina; Bourbon, MafaldaSitosterolemia is a rare lipid disorder characterized by the accumulation of plant sterols in the blood, which can lead to several cardiovascular complications. This autosomal recessive disorder is due to pathogenic alterations in ABCG5 and ABCG8 genes. We aimed to assess ClinVar information regarding ABCG5/8 variants possibly causing sitosterolemia. ClinVar was consulted, and all variants submitted as related to “sitosterolemia” were considered (even if some of these were also associated with other phenotypes such as “cardiovascular phenotype”). ClinVar review status of two stars (multiple submissions, no conflicts), one star (single submissions or conflicting interpretations) and no stars (no assertion criteria provided) were considered. The file extracted for ABCG5 analysis contained 295 variants and the file extracted for ABCG8 contained 138 variants. In both files appeared variants mentioning both genes ABCG5/ABCG8 (=11). These were not considered for the descriptive analysis to avoid overcounting. Concerning ABCG5 variants (n=295), 24 are classified as pathogenic/likely pathogenic (3 with review status of two stars, 7 with one, and 6 with no stars); 67 as benign/likely benign (25 with two stars and 42 with one star). Additionally, 160 were classified as variants of uncertain significance (VUS) (61 with two stars, 98 with one, and 1 with no stars), and 44 have conflicting interpretations of pathogenicity (review status of one star). In the ABCG8 variants file (n=138), 16 are classified as pathogenic/likely pathogenic (7 with review status of two stars, 5 with one star, and 4 with no stars); and 26 as benign/likely benign (all with two stars). Additionally, 59 were found classified as VUS (28 with two stars and 31 with one star), and 37 have conflicting interpretations of pathogenicity (review status of one star). Despite there is information in ClinVar about these variants being found in homozygosity/compound heterozygosity in sitosterolemia patients (enabling a genotype-phenotype analysis), the great majority of variants in both genes lack other kind of information as functional characterization and in silico prediction analysis. ClinVar constitutes a fundamental tool for data sharing and to be consulted to know if a specific variant has been reported elsewhere but lacks other important information for variant classification. Although the majority are nonsense variants there are still many missense variants that need other type of information to be classified as pathogenic and this poses an important gap in sitosterolemia diagnosis. It remains crucial to improve the classification and knowledge of ABCG5/8 variants since the correct genetic diagnosis of sitosterolemia is vital for a personalized treatment.
- Roadmap for genomics in healthcarePublication . Lopes, FátimaNa reunião presencial dos grupos de trabalho (WGs) da iniciativa 1+MG e do projeto B1MG, que decorreu nos dias 11-13 de Setembro de 2023, em Bruxelas, apresentou-se o documento, produzido pelo WP5, intitulado "A roadmap for genomics in healthcare". Esta apresentação foi integrada na agenda da reunião específica do WG6 que se dedica ao desenvolvimento dos aspetos económicos relevantes para a implementação sustentável da medicina genómica.
- Sitosterolemia in Iberoamerican countries: new cases and phenotype genotype analysisPublication . Alves, Ana CatarinaIntroduction: Sitosterolemia is an autosomal recessive disorder caused by variations in ABCG5/8 genes and characterized by severely elevated plasma plant sterols, associated with xanthomas and premature cardiovascular disease. The aim of this study is to present 12 clinical cases of sitosterolemia in Iberoamerican countries. Methods: We report 11 index cases, and 4 relatives identified by cascade screening. Clinical and laboratory characteristics of individuals were determined in different countries. All individuals were sequenced for the ABCG5/8 genes in Portugal or in the country corresponding. Results: The geographical distribution of the 15 cases is as follows: seven from Spain (six compound heterozygous and one true homozygous, all in ABCG8); four from Portugal ( two true homozygous, in ABCG8, one in ABCG5 and one compound heterozygous in ABCG8); one from Argentina (true homozygous in ABCG8) and three from Uruguay (all true homozygous in ABCG8). Four index cases (~57%) and two of the relatives (40%) were diagnosed in childhood, the remaining identified as adults. Six index cases present variants in ABCG8 gene (two missense and four nonsense variants) and only one presents a homozygosity in the ABCG5 gene (frameshift variant). Conclusions: The eight variants identified in this study in ABCG8 and the one in the ABCG5 genes, indicate the genetic heterogeneity of sitosterolemia in Iberoamerican countries. The treatment for sitosterolemia is specific and completely different from the rest of hypercholesterolemias, so a correct and timely diagnosis is crucial to avoid delays in treatment that could lead to poor clinical outcomes.
- B1MG General Assembly meeting WP5 - Delivering Personalised Medicine cross borders: Implementation in Healthcare systems and Societal ImpactPublication . Vicente, Astrid; Scollen, Serena; Custers, IlseWP5 - Objectives: • O5.1: To define a B1MG maturity level model framework for profiling the maturity level of European healthcare systems and a path to optimisation of 1+MG data use in healthcare. • O5.2: To establish a roadmap as a guideline tool to support the progress towards implementation of genomic data in healthcare systems throughout Europe. • O5.3: To develop tools to assess the economic viability of the integration of genomics into healthcare in diverse European countries. • O5.4: To improve the understanding about the potential of genomic medicine in healthcare systems and promote knowledge exchange on implementation.
- miRNA target-binding sites as regulators of genes involved in the lipid metabolism might explain the hypercholesterolaemia in FH patientsPublication . Medeiros, A.M.; Enguita, F.J.; Bourbon, M.Aims to analyze miRNAs target sites as regulators of genes involved in the lipid metabolism in FH mutation-negative patients.
- Depressão e ansiedade na população geral e em profissionais de saúde no decurso da pandemia em Portugal - Estudo Transversal e LongitudinalPublication . Virgolino, Ana; Caldas de Almeida, Teresa; Heitor, Maria João; Santos, Osvaldo; Fialho, Mónica; Costa, Alexandra; Rasga, Célia; Martiniano, Hugo; Vicente, AstridObjetivos: Caracterizar indicadores de saúde mental e bem-estar psicológico da população adulta residente em Portugal e dos profissionais de saúde; Identificar fatores modificáveis de proteção e de eventual risco acrescido relativamente à saúde mental e bemestar psicológico
- 1+Million Genomes Initiative /Beyond 1 Million Genomes CSA UpdatePublication . Vicente, AstridThe 1+ Million Genomes initiative has the potential to improve disease prevention, allow for more personalised treatments and support groundbreaking research. The '1+ Million Genomes' (1+MG) initiative aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making. Since the Digital Day 2018, 22 EU countries, the UK and Norway signed Member States’ declaration on stepping up efforts towards creating a European data infrastructure for genomic data and implementing common national rules enabling federated data access. The initiative forms part of the EU’s agenda for the Digital Transformation of Health and Care and is aligned with the goals of the European Health Data Space.
- Biomedical Knowledge Graph Embeddings for Personalized MedicinePublication . Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Xavier Santos, João; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine promises to revolutionize healthcare in the coming years. However significant challenges remain, namely in regard to integrating the vast amount of biomedical knowledge generated in the last few years. Here we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph as a path to reasoning over the wealth of information stored in publicly accessible databases. We use curated databases such as Ensembl, DisGeNET and Gene Ontology as data sources to build a Knowledge Graph containing relationships between genes, diseases and other biological entities and explore the potential of KGE methods to derive medically relevant insights from this KG. To showcase the method’s usefulness we describe two use cases: a) prediction of gene-disease associations and b) clustering of disease embeddings. We show that the top gene-disease associations predicted by this approach can be confirmed in external databases or have already been identified in the literature. An analysis of clusters of diseases, with a focus on Autism Spectrum Disorder (ASD), affords novel insights into the biology of this paradigmatic complex disorder and the overlap of its genetic background with other diseases