Early-life exposure to air pollutants, including ozone (O3), particulate matter (PM2.5 or PM10, depending on diameter of particles), nitrogen dioxide (NO2) and sulfur dioxide (SO2) has been suggested to contribute to the etiology of Autism Spectrum Disorder (ASD). In this study, we used air quality monitoring data to examine whether mothers of children with ASD were exposed to high levels of air pollutants duri...
The COVID-19 pandemic increased psychosocial risk factors among healthcare professionals (HCPs). Objective: To characterize Portuguese HCPs mental health (MH), estimate anxiety, depression, post-traumatic stress disorder (PTSD) and burnout symptoms, and identify risk/protective factors. A cross-sectional online survey and a longitudinal assessment were conducted in 2020 (T0) and 2021 (T1). Sociodemographic and ...
Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairedsocial/communication skills and stereotyped/repetitive behaviors. Genetic factors account for 50-80% of the familialrisk of ASD, but genetic determinants are not fully understood and a role for regulatory processes is plausible. Inthis study, we explored the contribution to ASD etiology of genes involved in a...
Heritability estimates indicate that genetic susceptibility does not fully explain Autism Spectrum Disorder (ASD) risk variance, and that environmental factors may play a role in this disease. To explore the impact of the environment in ASD etiology, we performed a systematic review of the literature on xenobiotics implicated in the disease, and their interactions with gene variants. We compiled 72 studies repo...
Sequencing studies have yielded several candidate genes for Autism Spectrum Disorder (ASD). However, the biological mechanisms underlying its onset are still unclear. Environmental factors may modulate ASD risk, with heritability estimates of 50-80% supporting a role for gene-environment interactions in idiopathic cases. We hypothesize that ASD candidate genes interact with reported ubiquitous environmental ris...
Sobre interações gene-ambiente na Perturbação do Espetro do Autismo.
The “1+ Million Genomes” (1+MG) initiative is a cooperation mechanism involving by now 24 countries and was launched on Digital Day 2018. Countries meet on a regular basis in order to make sure that the aim of the 1+MG Declaration - to have at least 1 million sequenced genomes accessible in the EU by 2022 - is achieved. Genomics has the potential to revolutionise healthcare in many ways. It could lead to the de...
A medicina personalizada é amplamente entendida como um modelo médico que utiliza a caracterização dos fenótipos e genótipos das pessoas (por exemplo, a caracterização molecular, a imagiologia médica, dados relativos ao estilo de vida) para ajustar a estratégia terapêutica a cada pessoa no momento certo, e/ou para determinar a predisposição a doenças e/ou para prestar cuidados preventivos atempados e direcionad...
Medicina personalisada: A medicina personalizada é amplamente entendida como um modelo médico que utiliza a caracterização dos fenótipos e genótipos das pessoas (por exemplo, a caracterização molecular, a imagiologia médica, dados relativos ao estilo de vida) para ajustar a estratégia terapêutica a cada pessoa no momento certo, e/ou para determinar a predisposição a doenças e/ou para prestar cuidados preventivo...
Personalised Medicine - concept: Characterisation of individuals’ phenotypes and genotypes (e.g. molecular profiling, medical imaging, lifestyle data) for tailoring the right therapeutic strategy for the right person at the right time, and/or to determine the predisposition to disease and/or to deliver timely and targeted prevention". According to: Horizon2020 and the European Council Conclusions on personalise...