56 documents found, page 1 of 6
The Prophet Appraisal Framework For Personalised Prevention
Vicente, AstridThe PROPHET Framework evaluates personalised prevention policies using genetic technologies. It combines technology assessment, health impact analysis, and ongoing monitoring to ensure policies are effective, fair, and sustainable. This helps improve healthcare decisions and benefits for patients and society.
Prediction of Genes Associated With Autism Spectrum Disorder Using Sequence And...
Inácio, João; Vilela, Joana; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, HugoIntroduction: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by a strong genetic component, heterogeneous phenotypic presentation and complex genetic architecture. [1, 2] Identification of ASD risk genes and biological pathways is key to understand this disorder.[3, 4] Despite the large number of genes associated with ASD, its genetic etiology is still not fully understoo...
The PROPHET project paves the way for personalized prevention in the future hea...
Pastorino, Roberta; Pezzullo, Angelo Maria; Osti, Tommaso; Adany, Roza; Borry, Pascal; Barnhoorn, Floris; Fadil, Eva; Kroese, Mark; Metspalu, AndresNo abstract available
Are we PREPAREd? Concerning the “PREemptive Pharmacogenomics Testing for Preven...
de Carmo Campos, Ana; Cardoso, Maria Luís; Vicente, AstridN/a.; N/a.
Distress among healthcare professionals during the first two years of COVID-19 ...
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 onlin...
Recomendações para a Implementação da medicina genómica nos sistemas de saúde: ...
Costa, Alexandra; Cardoso, Maria Luís; Lopes, Maria Fátima; Vicente, AstridPara que todos os cidadãos europeus possam vir a beneficiar da medi cina genómica de forma equitativa, é essencial colmatar as assime trias existentes na Europa na implementação das análises genómicas nos cuidados de saúde. Promover o diálogo e a cooperação entre países, contribuindo para a sua capacitação e partilha de boas práticas, é essencial para o avanço da medicina genómica a nível nacional e europeu. Ne...
Estudo Molecular da Sensibilidade à Varfarina
Picanço, Isabel; Vicente, AstridFolheto técnico sobre o estudo molecular da sensibilidade à varfarina. A varfarina é o anticoagulante oral mais utilizado na terapêutica das doenças cardiovasculares. No entanto, dado apresentar um intervalo terapêutico muito estreito e uma elevada variabilidade inter-individual na resposta, este fármaco está associado a episódios hemorrágicos ou trombóticos por inadequação da dosagem administrada. O Departamen...
D5.1 B1MG maturity level model and country-specific alignment within the model
Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Sitja, Xènia Pérez; Lopes, Maria de Fátima; Merchant, Arshiya; Santos, OsvaldoNo âmbito do projeto B1MG, WP5, o INSA coordenou o desenvolvimento, validação e teste em sistemas reais, de um modelo de maturidade que se pretende como uma ferramenta de suporte à implementação da genómica na pratica clinica nos sistemas de saúde. Este documento, que constitui o deliverable 5.1 do projeto B1MG, descreve o contexto, metodologia e resultados desta tarefa.
Biomedical knowledge graph embeddings for personalized medicine: Predicting dis...
Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, HugoPersonalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few years. Here, we describe an approach that uses Knowledge Graph Embed...
Determinants of satisfaction with the detection process of autism in Europe: Re...
Guillon, Quentin; Baduel, Sophie; Bejarano-Martín, Álvaro; Canal-Bedia, Ricardo; MagÁn-Maganto, María; FernÁndez-Álvarez, ClaraProfessional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their ...