Browsing by Author "Brito, MJ"
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- Anaplastic cutaneous lymphoma mimicking an infection.Publication . Barbosa, L; Brito, MJ; Balaco, I; Noruegas, MJWe present a case of a 17-year-old boy who presented with a skin lesion with extension to the soft tissues of the left thigh. On ultrasound, a homogeneous and hypoechoic expansile formation in the subcutaneous tissue was found, measuring 6.5 × 5 × 3.5 cm, with scarce vascularization. Computed tomography showed a low attenuating neoformation with surrounding edema. An inflammatory disorder was the first diagnosis, but the absence of improvement with antibiotics led us to perform magnetic resonance imaging that showed a high signal lesion on T2-weighted imaging and low intensity signal on T1-weighted imaging and surrounding contrast uptake. Positron emission tomography and computed tomography showed uptake of 18F-fluorodeoxyglucose by the lesion. The final diagnosis was anaplastic cutaneous lymphoma.
- Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomasPublication . Isidro, G; Laranjeira, F; Pires, A; Leite, J; Regateiro, FJ; Castro e Sousa, F; Soares, J; Castro, C; Giria, J; Brito, MJ; Medeira, A; Teixeira, R; Morna, H; Gaspar, I; Marinho, C; Jorge, R; Brehm, A; Ramos, JS; Boavida, MGGerminal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described
- [Hodgkin's Lymphoma and Autoimmunity: Is There a Relationship?]Publication . Jerónimo, M; Silva, S; Benedito, M; Brito, MJINTRODUCTION: The relationship between lymphomas and autoimmune diseases has been reported as bi-directional, however there is a few data in pediatric population. The aim of this work is to evaluate the prevalence of autoimmune diseases in children and adolescents with Hodgkin's lymphoma followed in a Pediatric Oncology Unit. MATERIAL AND METHODS: By reviewing Hodgkin's lymphomas data from the past 16 years (collected prospectively), an apparently large incidence of autoimmune diseases, mostly in female patients, was noted. We decided to do this retrospective study with an update on follow-up. Data analyzed: age, gender, autoimmune disease, temporal relation with lymphoma, lymphoma's stage, histologic subtype and treatment. RESULTS: Fifty-two cases were included, 7 (13.5%) of which, all female, had an autoimmune disease diagnosed previously, simultaneously or after lymphoma. Autoimmune diseases were: juvenile idiopathic arthritis, inflammatory bowel disease, Behçet's disease, autoimmune hepatitis, systemic erythematosus lupus, Hashimoto's thyroiditis and idiopathic thrombocytopenic purpura. The diagnosis was made after lymphoma in 4 patients, before in 2 and simultaneously in 1 patient. All cases, except the one with simultaneous diagnosis, are out of treatment and without oncologic disease relapse. No deaths were registered. DISCUSSION: There was an important prevalence of autoimmune diseases in girls with Hodgkin's lymphoma. We present data and discuss the possible causes based on a literature review. CONCLUSIONS: This relationship should be invoked, requiring more studies, especially in pediatric age.
- MÓDULO 1 - 2º Curso de Formação para Internos 2013 - 2014: Serviço de UrgênciaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Januário, L; Gata, L; Pinheiro, JA; Mação, P; Félix, M; Noruegas, MJ
- MÓDULO 1 - Urgência, Laboratório e RadiologiaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Januário, L; Pires, A; Carvalho, L; Patrício, H; Cristino, M
- MÓDULO 2 - 2º Curso de Formação para Internos 2013 - 2014:Pediatria AmbulatóriaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Oliva, M; Dinis, I; Correia, AJ; Soares, R; Fonseca, P; Ramos, L; Mirante, A
- MÓDULO 2 - Pediatria do Ambulatório IPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Canha, J; Oliva, M; Fonseca, P; Soares, R; Lemos, S
- MÓDULO 2 - Reanimação, acessos vasculares e outras intervenções emergentes: 3º CURSO DE FORMAÇÃO PARA INTERNOS 2015 - 2016Publication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Paiva, G; Santos, L; Conceição, V; Cardoso, P; Balacó, I; Maricato, F; Monteiro, M; Castela, G; Coelho, D; Lopes, C; Paiva, D
- MÓDULO 3 - 2º Curso de Formação para Internos 2013 - 2014: Neonatologia e Cuidados Intensivos PediátricosPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Farela-Neves, J; Ramos, C; Mesquita, J; Fonseca, M; Morais, S; Resende, C; Dinis, A; Pinto, C; Carvalho, L
- MÓDULO 3 - Neonatologia e Cuidados Intensivos PediátricosPublication . Brito, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Farela-Neves, J; Ramos, C; Mesquita, J; Lemos, C; Pinto, C; Dionísio, T; Fonseca, M; Taborda, A; Coelho, L; Dinis, A; Resende, C; Faria, D; Morais, S; Mimoso, G; Dias, A
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