Browsing by Author "Nunes, J"
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- Disfagia e Disartria. Forma Invulgar de Apresentação da Miastenia GravisPublication . Ferreira, S; Lage, P; Claro, I; Alcântara, J; Nunes, J; Nobre Leitão, CMyasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria. Because Myasthenia Gravis is a potentially serious but treatable disease, we emphasize the need to consider it in the differential diagnosis of dysphagia, namely in the elderly. In fact, the disorder is probably underdiagnosed in this population group, because clinicians tend to accept other more frequent diagnosis to explain these symptoms.
- Fabry Disease Caused by the GLA p.Phe113Leu (p.F113L) Variant: Natural History in MalesPublication . Oliveira, J; Nowak, A; Barbey, F; Torres, M; Nunes, J; Teixeira-e-Costa, F; Carvalho, F; Sampaio, S; Tavares, I; Pereira, O; Soares, A; Carmona, C; Cardoso, MT; Jurca-Simina, I; Spada, M; Ferreira, S; Germain, DBackground, aims and methods: The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also prevalent in the Italian population, where two boys carrying the GLA Leu113 allele were identified in a large-scale newborn screening program, the variant allele segregating in both cases with the same surrounding haplotype. To further delineate the genotype-phenotype correlations of this GLA variant, we have reviewed the natural history and clinical phenotypes of 11 symptomatic Portuguese males, from 10 unrelated families originating from several different areas in mainland Portugal and Madeira Island, who were diagnosed with FD associated with the GLA Leu113 allele in a diversity of clinical and screening settings. Nine of the patients were the probands of their respective families. To test whether the GLA Leu113 allele inherited by the 10 Portuguese and the two Italian families resulted from independent mutational events, we have additionally performed a haplotype analysis with 5 highly polymorphic, closely linked microsatellite markers surrounding the GLA gene. Results and conclusions: Hemizygosity for the GLA Leu113 variant allele is associated with a late-onset form of FD, invariably presenting with severe cardiac involvement. Clinically relevant cerebrovascular and kidney involvement may also occur in some patients but the pathogenic relationship between the incomplete α-galactosidase deficiency and the risks of stroke and of chronic kidney disease is not straightforward. The observation that the Leu113 allele segregated within the same GLA microsatellite haplotype in both the Portuguese and Italian families suggests its inheritance from a common ancestor.
- Gestão do Estado Emocional da Criança (dos 6 aos 8 anos) através da Actividade de Brincar: Analisando o Cuidado de Enfermagem em Contexto de Internamento de PediatriaPublication . Pereira, AM; Nunes, J; Teixeira, S; Diogo, PO presente estudo, de abordagem qualitativa, visa compreender como o brincar integrado na prática de enfermagem pode ser usado na gestão do estado emocional da criança a viver uma experiência de hospitalização/cirurgia. Neste processo investigativo recorreu-se ao diário de campo para descrever e analisar a própria prática de enfermagem associada ao fenómeno em estudo. A recolha dos dados foi realizada num serviço de internamento de pediatria cirúrgica de um hospital pediátrico de Lisboa, no período de Abril a Junho de 2008, a partir de interacções de cuidados com 9 crianças de idades compreendidas entre os 6 e os 8 anos. Os dados foram analisados segundo a técnica de análise de conteúdo, os quais revelaram um processo de gestão do estado emocional da criança, através da actividade de brincar, que implica as seguintes acções/interacções: promover o confronto adaptativo, favorecer o relaxamento, incrementar o sentimento de controlo, promover o sentimento de segurança, facilitar a aproximação, promover a expressão emocional, minimizar o sentimento de solidão, promover a distracção e desmistificar os medos. Conclui-se que a actividade de brincar é um instrumento terapêutico primordial em enfermagem pediátrica, na medida em que se revela um meio para favorecer o bem-estar das crianças, e por isso é sugestivo de contribuir para resultados terapêuticos. De facto, usado de modo intencional e sistemático promove a adaptação e aprendizagem das crianças numa experiência positiva de hospitalização/cirurgia.
- H1N1 Influenza Virus-Associated Encephalitis: a Case ReportPublication . Joosten, A; Moya, B; Nunes, J; Germano, N; Alcântara, J; Bento, L
- Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male InfertilityPublication . Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA; Carmen Gonzalvo, M; Clavero, A; Maldonado, V; Vicente, FJ; González-Muñoz, S; Guzmán-Jiménez, A; Burgos, M; Jiménez, R; Pacheco, A; González, C; Gómez, S; Amorós, D; Aguilar, J; Quintana, F; Calhaz-Jorge, C; Aguiar, A; Nunes, J; Sousa, S; Pereira, I; Pinto, MG; Correia, S; Sánchez-Curbelo, J; López-Rodrigo, O; Martín, J; Pereira-Caetano, I; Marques, PI; Carvalho, F; Barros, A; Gromoll, J; Bassas, L; Seixas, S; Gonçalves, J; Larriba, S; Kliesch, S; Palomino-Morales, RJ; Carmona, FDWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.
- Low Prevalence of Fetal-Type Posterior Cerebral Artery in Patients with Basilar Tip AneurysmsPublication . Diogo, M; Fragata, I; Dias, SP; Nunes, J; Pamplona, J; Reis, JBACKGROUND: Basilar tip aneurysms (BTA) are multifactorial in origin, with luminal forces playing a major role in their formation. Considering the reduced hemodynamic stress on the basilar apex in the fetal-type posterior cerebral artery (fPCA), we hypothesize that BTA should be less common in patients with this variant. OBJECTIVE: To investigate, in a retrospective case-control study, the frequency of fPCA in patients with and without BTA. MATERIALS AND METHODS: We collected clinical and imaging data from consecutive patients with BTA undergoing catheter angiography between July 2010 and July 2015, and from a randomly selected, age- and sex-matched non-BTA control population from our prospective database. Anatomical variants of the distal basilar artery region were assessed in the two groups and compared using parametric and non-parametric tests. RESULTS: Fifty-nine BTA cases and 337 controls were included. fPCA was present in 3% of patients with BTA and 23% in the control group (p<0.001; OR=0.11, 95% CI 0.03 to 0.48). Basilar tip disposition was cranial in 49% of BTA and 63% of non-BTA cases (p=0.04; OR=0.57, 95% CI 0.33 to 0.99); a caudal disposition was found in 24% and 6% of cases, respectively (p<0.001; OR=4.65, 95% CI 2.21 to 9.80). CONCLUSIONS: We found a statistically significant association between the absence of fPCA and BTA. Our findings underline the importance of hemodynamic stress in the formation of intracranial aneurysms, and suggest that fPCA is a protective variant for formation of BTA.