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Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/T...
Correia, C.T.; Coutinho, A.M.; Sequeira, A.F.; Sousa, I.G.; Lourenço Venda, L.; Almeida, J.P.; Abreu, R.L.; Lobo, C.; Miguel, T.S.; Conroy, J.The brain-derived neurotrophic factor (BDNF), a neurotrophin fundamental for brain development and function, has previously been implicated in autism. In this study, the levels of BDNF in platelet-rich plasma were compared between autistic and control children, and the role of two genetic factors that might regulate this neurotrophin and contribute to autism etiology, BDNF and NTRK2, was examined. We found that...
Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical char...
Oliveira, G.; Ataíde, A.; Marques, C.; Miguel, T.S.; Coutinho, A.M.; Mota-Vieira, L.; Gonçalves, E.; Lopes, N.M.; Rodrigues, V.; Carmona da Mota, H.The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Stat...
Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the d...
Coutinho, A.M.; Sousa, I.; Martins, M.; Correia, C.; Morgadinho, T.; Bento, C.; Marques, C.; Ataíde, A.; Miguel, T.S.; Moore, J.H.; Oliveira, G.Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its heritability within affected families suggest that genes involved in the serotonin system play a role in this disorder. The role in autism etiology of seven candidate genes in the serotonin metabolic and neurotransmission pathways and mapping to autism linkage regi...
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients
Coutinho, A.M.; Oliveira, G.; Katz, C.; Feng, J.; Yan, J.; Yang, C.; Marques, C.; Ataíde, A.; Miguel, T.S.; Borges, L.; Almeida, J.; Correia, C.Mutations in the coding sequence of the methyl-CpG-binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established. In this study, the MECP2 gene was scanned in a Portuguese autistic population, hypothesizing that the phenotypic spectrum of mutations extends beyond the traditional diag...
Brief report: High frequency of biochemical markers for mitochondrial dysfuncti...
Correia, C.; Coutinho, A.M.; Diogo, L.; Grazina, M.; Marques, C.; Miguel, T.; Ataíde, A.; Almeida, J.; Borges, L.; Oliveira, C.; Oliveira, G.In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence o...
Injuries to the urinary tract.
de Matos, S; Serviço de Urologia, Hospital Distrital de Faro.; Coutinho, A M; Rosa, G; Neves, JThe aim of this paper is to briefly review recent data concerning urinary tract trauma. Upper urinary tract injuries occur in 1 to 1.5% of all trauma. Bladder trauma and urethral injuries are associated in 8 to 16% of pelvic fractures and perineal lesions. Functional and vital prognosis are reviewed and modern diagnostic management and treatment modalities are also mentioned. The association of urinary tract tr...
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