61 documents found, page 1 of 7

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

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

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...

Comprehensive Genetic Analysis Provides Novel Insights Into The MicroRNA Regula...

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Many risk genes are associated with ASD, however most of the genetic determinants are still unknown and a role for gene regulatory mechanisms is likely. MicroRNAs (miRNAs) regulate gene expression, playing key roles in neural development and function, and have been implicated in ASD onset and progression...

Prediction of Genes Associated With Autism Spectrum Disorder Using Sequence And...

Introduction: 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...

Genetic Similarity Between nAutism Spectrum Disorder and Comorbid Brain Disorders

Background: A range of brain disorders are comorbid with Autism Spectrum Disorder (ASD), such as Epilepsy, Intellectual disability or Anxiety. Previous evidence suggested a shared genetic influence between ASD and several brain disorders. In this study, we sought to further substantiate the genetic similarity between ASD and a set of comorbid brain disorders. Methods: We constructed a network of 29 brain disord...

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

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...

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...

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...

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 ...

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...