100 documents found, page 1 of 10
Esophageal Atresia at Daniel de Matos Maternity: A Fifteen-year Review
Pedro, Beatriz; Castelo, Rui; Oliveira, GuiomarIntroduction: Esophageal atresia (EA) is a rare congenital malformation, with mainly postnatal diagnosis, although prenatal suspicion has improved. Until surgery, these newborns need monitoring in Neonatal Intensive Care Unit (NICU). Despite mortality reduction, morbidity remains a concern. The aim of this study was to characterize the prenatal, delivery and postnatal data of EA newborns at a level three refere...
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 RitaAutism 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 MouraA 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, CéliaAutism 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, FredericoEarly-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 MouraBackground/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...
Design and Implementation of a Collaborative Clinical Practice and Research Doc...
Direito, Bruno; Santos, André; Mouga, Susana; Lima, João; Brás, Paulo; Oliveira, Guiomar; Castelo-Branco, MiguelThis paper introduces a prototype for clinical research documentation using the structured information model HL7 CDA and clinical terminology (SNOMED CT). The proposed solution was integrated with the current electronic health record system (EHR-S) and aimed to implement interoperability and structure information, and to create a collaborative platform between clinical and research teams. The framework also aim...
The role of early functional neuroimaging in predicting neurodevelopmental outc...
Pinto, Carla R.; Duarte, João V.; Marques, Carla; Vicente, Inês N.; Paiva, Catarina; Éloi, João; Pereira, Daniela J.; Correia, Bárbara R.Reliably assessing the early neurodevelopmental outcomes in infants with neonatal encephalopathy (NE) is of utmost importance to advise parents and implement early and personalized interventions. We aimed to evaluate the accuracy of neuroimaging modalities, including functional magnetic resonance imaging (fMRI) in predicting neurodevelopmental outcomes in NE. Eighteen newborns with NE due to presumed perinatal ...
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a popu...
Rasga, Célia; Santos, João Xavier; Café, Cátia; Oliveira, Alexandra; Duque, Frederico; Posada, Manuel; Nunes, Ana; Oliveira, GuiomarIntroduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region...
Prevalence of autism spectrum disorder in the centro region of Portugal: A popu...
Rasga, Célia; Xavier Santos, João; Café, Cátia; Oliveira, Alexandra; Duque, F; Posada, Manuel; Nunes, Ana; Oliveira, Guiomar; Vicente, Astrid MIntroduction: Accurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts. Methods: We used a population screening approach to estimate the prevalence of ASD in the Centro region...