Browsing by Author "Soares, J"
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- Estudo clínico, multicêntrico, aberto para avaliar a eficácia e a tolerância do sildenafil no tratamento de doentes com disfunção eréctilPublication . Palha, AP; Gomes, A; Martins, AS; Pimenta, A; Neves, J; Gonçalves, R; Ramos, L; Abrantes, P; Canhão, A; Santos, G; Carvalho, LF; Soares, J; Lima, E; Rosa, GErectile dysfunction (ED), defined by the Impotence-NIH Consensus Conference as the "persistent inability to achieve and/or maintain erection sufficient for satisfactory sexual activity" affect more than 100 million men worldwide, at particular severity levels. The global prevalence of ED is estimated to affect about 10%, but has been found to increase significantly with age (39% in men 40 years of age and 67% at 70 years of age). In men aged 40 to 70 years, the severe ED prevalence increased of three folds, 5 to 15%. In order to evaluate the efficacy and tolerance of sildenafil, it was conducted a national open, multicentre study on a portuguese population affected by ED. Subjects under ambulatory treatment were recruited in Psychiatry/Sexology Clinical units and Urology/Andrology. The results of the study carried out on a group of 62 men with ED, demonstrate that sildenafil was effective in the recovering of erectile function, increasing the number of attempts to sexual activity and improving their success rates (mainly in severe dysfunction). Fifty one patients treated with sildenafil, at the end of the study referred a global improvement in their erections (92.2%). Doses of 50 mg and 100 mg sildenafil were used and were well tolerated and also effective in the treatment of this pathology (70% and 69% respectively). Being this study a flexible dose one and taking into consideration that the final dose used was found the more suitable to the patients, can be concluded that 43.1% of the patients elected dose of 50 mg whereas 56.9% elected the maximum prescribed dose of 100 mg. Over and above global efficacy experimented by patients, a significant improvement in the sexual activity with partners was occurred. These results make possible a final conclusion--in the studied patients group affected by Erectile Dysfunction, aside from associated somatic pathology, sildenafil use provided a remarkable clinical profit, in what concerns global efficacy, by erectile function mechanisms improvement, concerning patients sensitivity of improvement, occurring in the major part of them, being these of high importance to the lifting up of their self-esteem
- 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
- The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing PoliciesPublication . Sá-Sousa, A; Fonseca, JA; Pereira, AM; Ferreira, A; Arrobas, A; Mendes, A; Drummond, M; Videira, W; Costa, T; Farinha, P; Soares, J; Rocha, P; Todo-Bom, A; Sokolova, A; Costa, A; Fernandes, B; Chaves Loureiro, C; Longo, C; Pardal, C; Costa, C; Cruz, C; Loureiro, CC; Lopes, C; Mesquita, D; Faria, E; Magalhães, E; Menezes, F; Todo-Bom, F; Carvalho, F; Regateiro, FS; Falcão, H; Fernandes, I; Gaspar-Marques, J; Viana, J; Ferreira, J; Silva, JM; Simão, L; Almeida, L; Fernandes, L; Ferreira, L; van Zeller, M; Quaresma, M; Castanho, M; André, N; Cortesão, N; Leiria-Pinto, P; Pinto, P; Rosa, P; Carreiro-Martins, P; Gerardo, R; Silva, R; Lucas, S; Almeida, T; Calvo, TThe Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies. The contents and structure of RAG were defined in a multistep consensus process. A pilot version was pretested and iteratively improved. The selection of data elements for RAG considered other severe asthma registries, aiming at characterizing the patient's clinical status whilst avoiding overloading the standard workflow of the clinical appointment. Features of RAG include automatic assessment of eligibility, easy data input, and exportable data in natural language that can be pasted directly in patients' electronic health record and security features to enable data sharing (among researchers and with other international databases) without compromising patients' confidentiality. RAG is a national web-based disease registry of severe asthma patients, available at asmagrave.pt. It allows prospective clinical data collection, promotes standardized care and collaborative clinical research, and may contribute to inform evidence-based healthcare policies for severe asthma.