3 documents found, page 1 of 1
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 ...
The relevance of the socio-emotional deficits in cerebral small vessels disease...
Silva, Ana Rita; Santos, Irina; Fernandes, Carolina R.; Silva, Cristiana; Pereira, Daniela J.; Galego, Orlando; Queiroz, HenriqueBackground: Cerebral Small Vessels Disease (CSVD) is categorized in different forms, the most common being the sporadic form and a genetic variant – Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Amongst the most frequent clinical manifestations are the neuropsychological changes of cognitive, behavioral, and emotional nature, whose features are still under...
DEPDC5 variant in focal cortical dysplasia: a case report and review of the lit...
Ribeiro, Joana de Jesus; Pereira, Cristina Duarte; Robalo, Conceição; Pereira, Daniela J.; Duro, Diana; Ramos, Fabiana; Freire, António; Melo, Joana B.Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatibl...