Browsing by Author "Lopes, F"
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- A Recusa Alimentar na Pessoa IdosaPublication . Lopes, FA ingestão de alimentos é uma necessidade humana básica, para a manutenção da vida e da saúde. Uma alimentação equilibrada permite satisfazer as necessidades qualitativas e quantitativas em nutrientes essenciais, de forma a que cada pessoa possa manter a sua actividade física, social e afectiva. Com o envelhecimento dão-se alterações a nível biológico, fisiológico, social e económico que podem alterar os hábitos alimentares do indivíduo idoso. A recusa alimentar pode ser de etiologia multifactorial, motivando frequentemente a recorrer ao serviço de urgência e internamento da pessoa idosa. Esta problemática preocupa-nos, como enfermeiros, pois muitas vezes persiste a dúvida da intervenção mais adequada a tomar. Será a alimentação por sonda nasogástrica a primeira e única opção?
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature ReviewPublication . Lopes, F; Torres, F; Soares, G; van Karnebeek, CD; Martins, C; Antunes, D; Silva, J; Muttucomaroe, L; Botelho, LF; Sousa, S; Rendeiro, P; Tavares, P; Van Esch, H; Rajcan-Separovic, E; Maciel, PMicrodeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.
- Validation of App and Phone Versions of the Control of Allergic Rhinitis and Asthma Test (CARAT)Publication . Jácome, C; Pereira, AM; Almeida, R; Amaral, R; Correia, MA; Mendes, S; Vieira-Marques, P; Ferreira, JA; Lopes, I; Gomes, J; Vidal, C; López Freire, S; Méndez Brea, P; Arrobas, A; Valério, M; Chaves Loureiro, C; Santos, LM; Couto, M; Araujo, L; Todo Bom, A; Azevedo, JP; Cardoso, J; Emiliano, M; Gerardo, R; Lozoya, C; Pinto, PL; Castro Neves, A; Pinto, N; Palhinha, A; Teixeira, F; Ferreira-Magalhães, M; Alves, C; Coelho, D; Santos, N; Menezes, F; Gomes, R; Cidrais Rodrigues, JC; Oliveira, G; Carvalho, J; Rodrigues Alves, R; Moreira, AS; Costa, A; Abreu, C; Silva, R; Morête, A; Falcão, H; Marques, ML; Câmara, R; Cálix, MJ; Bordalo, D; Silva, D; Vasconcelos, MJ; Fernandes, RM; Ferreira, R; Freitas, P; Lopes, F; Almeida Fonseca, J
- Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leading to Epigenetic Changes and Overexpression of the MECP2 GenePublication . Vieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, PRett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated by the inversion. However, and in spite of a balanced pattern of X inactivation, this patient displayed hypomethylation and an overexpression of the MECP2 gene at the mRNA level in the lymphocytes (mean fold change: 2.55±0.38) in comparison to a group of control individuals; the expression of the CDKL5 gene was similar to that of controls (mean fold change: 0.98±0.10). No gains or losses were detected in the breakpoint regions encompassing known or suspected transcription regulatory elements. We propose that the de-regulation of MECP2 expression in this patient may be due to alterations in long-range genomic interactions caused by the inversion and hypothesize that this type of epigenetic de-regulation of the MECP2 may be present in other RTT-like patients.