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Análise genómica no Serviço Nacional de Saúde: modelo colaborativo INSA–ULSSM p...

Ferrão, José; Macedo, Catarina; Neto, Lara; Mendonça, Joana; Rangel, Sara; Martiniano, Hugo; Soares, Marta; Custódio, Sónia; Santos, Maria Rosário


Neurometabolic profiles of autism spectrum disorder patients with genetic varia...

Vilela, Joana; Pereira, Andreia C.; Violante, Inês R.; Mouga, Susana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton...


Análise de uma rede de similaridade genética entre a perturbação do espetro do ...

Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid Moura

A Perturbação do Espetro do Autismo (PEA) é uma perturbação do neurodesenvolvimento com apresentação clínica heterogénea, nível de gravidade variável e ocorrência de múltiplas comorbilidades. A PEA tem uma arquitetura genética complexa que se reflete na sua heterogeneidade clínica, existindo evidência de uma sobreposição de genes alterados entre esta condição e diversas comorbilidades do foro neurológico e neur...


Bridging genetic insights with neuroimaging in Autism Spectrum Disorder — A sys...

Vilela, Joana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita; Oliveira, Guiomar; Vicente, Astrid Moura; Maria Rasga, Célia

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques t...


Evidence for an association of prenatal exposure to particulate matter with cli...

Santos, João Xavier; Sampaio, Pedro; Rasga, Célia; Martiniano, Hugo; Faria, Clarissa; Café, Cátia; Oliveira, Alexandra; Duque, Frederico

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...


Disease similarity network analysis of Autism Spectrum Disorder and comorbid br...

Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid Moura

Background/Objectives: Autism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder , with variable severity and multiple comorbidities. Given the previous evidence of genetic overlap between ASD and several comorbid brain disorders, we sought to explore the genetic similarity with ASD across a range of brain disorders, using a genetic similarity disease network approach. Methods: We...


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 João

The 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...


Mental health of healthcare professionals: two years of the COVID-19 pandemic i...

Costa, Alexandra; Almeida, Teresa Caldas de; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid Moura

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 ...


Evidence for an association of prenatal exposure to particulate matter with cli...

Xavier Santos, João; Sampaio, Pedro; Rasga, Célia; Martiniano, Hugo; Farias, Clarissa; Café, Cátia; Oliveira, Alexandra; Duque, F; Oliveira, Guiomar

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...


Mental Health of Healthcare Professionals: Two Years of the COVID-19 Pandemic i...

Costa, Alexandra; Caldas de Almeida, Teresa; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Moura Vicente, Astrid

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 ...


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