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Atypical Phenotype in Two Patients with LAMA2 Mutations
Marques, J; Duarte, S; Costa, S; Jacinto, S; Oliveira, J; Oliveira, M; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Calado, E; Evangelista, TCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Amyand’s hernia: a case report
Graça, Susana; Interno Complementar de Cirurgia Geral do CHVNG/E, Centro Hospitalar de Vila Nova de Gaia e Espinho, EPE (CHVNG/E), PortugalAmyand’s hernia, first described, in 1735, by Claudius Amyand, consists of an inguinal hernia with the appendix in its sac. It is a rare unknown disease, diagnosed mostly during surgery for treatment of the inguinal hernia. The authors present a case of a 38 year-oldman, who went to the emergency room, with an inguinal inflammatory tumor. He was diagnosed a strangulated inguinal hernia and proposed surgical tre...
Atypical phenotype in two patients with LAMA2 mutations
Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Prevalência do Haemophilus influenzae tipo b
Silva J., Santos; V., Costa; S., Franca; A., Santos; Santos N., TeixeiraPropusemo-nos a avaliar, através da titulação, a prevalência de anticorpos, contra o Hib numa população infantil não imunizada activamente, utente da consulta externa de Pediatria do Hospital de São João. Foram estudadas 40 crianças divididas em 4 grupos etários, sendo a prevalência global de 50%. Avaliando os resultados denota-se um aumento tendencial da imunidade com a evolução etária, havendo uma maioria imu...
Development of a Hybrid Simulation and Emulation Testbed For VANETs
R. Costa; S. Sargento; R. Aguiar; W. ZhangIn the area of Intelligent Transportation System traffic efficiency and safety for users have become very popular topics and have triggered extensive research in Vehicular Ad-Hoc Networks (VANETs). Traditional methods for reaserch anddevelopment like field testing and simulation have been used. But field testing is usually very expensive and simulation lacks accuracy in wireless environments.This article aims t...
Romboencefalite e abcessos cerebrais por listeria monocytogenes: um desafio clí...
Costa, S; Valverde, AA Listeria monocytogenes é um bacilo gram positivo, anaeróbio facultativo e responsável por envolvimento do sistema nervoso central em 30 a 55% dos casos. As manifestações mais frequentes são a meningite aguda e subaguda, seguida da bacteriémia, romboencefalite e abcessos cerebrais ou medulares. Apresentamos um caso clínico de uma romboencefalite e abcessos cerebrais por L. monocytogenes. Concluímos que é impor...
Romboencefalite e abcessos cerebrais por listeria monocytogenes: um desafio clí...
Costa, S; Valverde, AA Listeria monocytogenes é um bacilo gram positivo, anaeróbio facultativo e responsável por envolvimento do sistema nervoso central em 30 a 55% dos casos. As manifestações mais frequentes são a meningite aguda e subaguda, seguida da bacteriémia, romboencefalite e abcessos cerebrais ou medulares. Apresentamos um caso clínico de uma romboencefalite e abcessos cerebrais por L. monocytogenes. Concluímos que é impor...
Canine and feline oral pathology
Costa, S.; Pais, B.; Almeida, D.; Simões, J.; Mega, A. C.; Vala, HelenaThe aim of this work was to present a brief review of the main conditions affecting the oral cavity of dogs and cats. In recent years there has been increased attention with regard to veterinary dentistry, being several and frequent the pathologies located in the oral cavity of our pets. These diseases mainly affect the teeth and the mucous membranes of the oral cavity, and may, in chronic cases, also affect vi...
Feline oral pathology
Costa, S.; Pais, B.; Almeida, D.; Simões, J.; Mega, A. C.; Vala, HelenaThe main pathologies of the oral cavity are of utmost importance, not only by the number of exposed individuals, but also by the consequences which stems. With the development of this work, we intend to conduct a brief approach to the same, since, specifically affecting domestic felines. Feline Lymphoplasmatic Gingivostomatitis (GELF), the Feline Odontoclastic Reabsorption Lesions (LROF) Complex and gingivitis-...
The Impact of Polymorphic Variations in the 5p15, 6p12, 6p21 and 15q25 Loci on ...
de Mello, RA; Ferreira, M; Soares-Pires, F; Costa, S; Cunha, J; Oliveira, P; Hespanhol, V; Reis, RMINTRODUCTION: Polymorphic variants in the 5p15, 6p12, 6p21, and 15q25 loci were demonstrated to potentially contribute to lung cancer carcinogenesis. Therefore, this study was performed to assess the role of those variants in non-small cell lung cancer (NSCLC) risk and prognosis in a Portuguese population. MATERIALS AND METHODS: Blood from patients with NSCLC was prospectively collected. To perform an associati...
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