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High Incidence of Early Thalamic Lesions in the Continuous Spike-Wave Related w...
Carvalho, D; Mendonça, C; Carvalho, J; Martins, A; Leal, AObjective: Continuous Spike-Wave during slow Sleep (CSWS) syndrome associates a clinically important neurocognitive regression with strong activation of non-REM sleep spikes. Its mechanisms remain unknown, but a contribution of rare perinatal thalamic injuries has been highlighted. We determine the incidence of such lesions in a cohort of CSWS patients. Methods: N = 65 patients with CSWS and a control group (N ...
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, D; Martins, E; Azevedo, L; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonça, CObjective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, a...
Dental pulp stem cells and Bonelike® for bone regeneration in ovine model
Campos, J; Sousa, A; Caseiro, A; Pedrosa, S; Pinto, P; Branquinho, M; Amorim, I; Santos, J; Pereira, T; Mendonça, C; Afonso, A; Atayde, L; Maurício, ADevelopment of synthetic bone substitutes has arisen as a major research interest in the need to find an alternative to autologous bone grafts. Using an ovine model, the present pre-clinical study presents a synthetic bone graft (Bonelike®) in combination with a cellular system as an alternative for the regeneration of non-critical defects. The association of biomaterials and cell-based therapies is a promising...
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, HNext-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. ...
Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome a...
Leal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JPOBJECTIVE: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease. METHODS: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density ...
Screening for Pompe Disease in a Portuguese High Risk Population
Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, JPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...
Screening for Pompe disease in a Portuguese high risk population
Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Herrero Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, JPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...
Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations
Nzwalo, H; Santos, V; Gradil, C; Vieira, JP; Mendonça, CMoyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the gene...
Empatia: ferramenta pró-social explorada num grupo terapêutico
Graça, J; Palma, M; Mendonça, C; Cargaleiro, I; Melo, JIntrodução: A empatia é um conceito multi- dimensional que engloba a capacidade de in- ferir um estado emocional e responder a emo- ções vivenciadas pelo outro, podendo ser assim categorizada em empatia cognitiva e emocional. É uma capacidade que se desenvolve pre- cocemente através, sobretudo, da interação com as figuras parentais. Não é exclusiva dos seres humanos e tem sido conservada evolutivamente, constit...
The Manchester Triage System in acute coronary syndromes
Matias, C; Oliveira, R; Duarte, R; Bico, P; Mendonça, C; Nuno, L; Almeida, A; Rabaçal, C; Afonso, SINTRODUCTION: A growing number of hospitals have implemented the Manchester Triage System (MTS) in their Emergency Department (ED), so as to better prioritize the evaluation of those attending these departments. OBJECTIVES: To assess whether the MTS was used effectively in patients admitted to the hospital with a diagnosis of acute coronary syndrome (ACS). METHODS: We evaluated 114 consecutive patients admitted...