Browsing by Author "Pires, A"
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- Accidental finding of a giant right coronary artery aneurysm associated with a fistula to the right atriumPublication . Vaz-Silva, P; Marinho, J; Pires, ACoronary artery fistulae are uncommon but may be haemodynamically significant, being an incidental finding in 0.1-0.2% of coronary angiograms. Even rarer is the association between fistulae and non-atherosclerotic coronary artery aneurysms. They most frequently originate in the right coronary artery, and the right cardiac chambers are the most common draining chambers. Most children are asymptomatic, whereas those older than 20 years may present with signs of congestive heart failure, infective endocarditis, myocardial ischaemia, or aneurysm rupture. Management is either surgical or via percutaneous means. We report the case of a 5-year-old child referred for assessment of an asymptomatic cardiac murmur. The echocardiographic evaluation showed an enlarged right atrium, a fenestrated atrial septal defect, and a giant right coronary artery aneurysm with a fistulous tract that appeared to drain directly into the right atrium. Computed angiocardiac tomography and cardiac catherisation confirmed the presence of a large right coronary fistula originating from the right coronary aneurysm draining into the right atrium. The patient underwent surgical ligation of the fistula and the post-operative course has been uneventful. He is currently on double antiaggregation therapy.
- Cianose no pequeno lactente – desafio diagnósticoPublication . Amaral, ME; Silva, PV; Marinho, J; Francisco, A; Andrade, H; Martins, P; Santos, I; Rodrigues, D; Sousa, G; Pires, A; Marinho, A; Castela, E
- 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
- 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 6 - Especialidades Cirúrgicas: 3º CURSO DE FORMAÇÃO PARA INTERNOS 2015 - 2016Publication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Silva, P; Pires, A; Gata, L; Mação, P; Félix, M; Santos, L; Cunha, C; Piedade, C
- Pro-inflammatory triggers in childhood obesity: correlation between leptin, adiponectin and high-sensitivity C-reactive protein in a group of obese Portuguese childrenPublication . Pires, A; Martins, P; Pereira, AM; Marinho, J; Vaz Silva, P; Marques, M; Castela, E; Sena, C; Seiça, RINTRODUCTION: Pediatric obesity is increasingly prevalent in the Portuguese population. Adipocyte dysfunction results in the expression of pro-inflammatory mediators that are responsible for the low-grade inflammatory process that characterizes obesity. OBJECTIVES: The aim of this study was to investigate the relationship between markers of adiposity, inflammation and adipokines in a Portuguese obese pediatric population. METHODS: One hundred and twenty children of both sexes, aged 6-17 years, were included in this study. The control group consisted of 41 healthy normal-weight children. The variables analyzed were age, gender, body mass index, waist circumference, fat mass percentage, high-sensitivity C-reactive protein (hs-CRP), leptin and adiponectin. RESULTS: There were significant differences between controls and obese children for all parameters analyzed. In the obese group, after controlling for age and gender, hs-CRP (p=0.041), adiponectin (p=0.019) and leptin (p<0.001) still showed significant statistical differences. A direct correlation was found between hs-CRP, leptin, body mass index and waist circumference, the strongest being with leptin (r=0.568; p<0.001). This trend remained statistically significant, regardless of gender or pubertal age. CONCLUSIONS: Considering the role of leptin, adiponectin and hs-CRP in the genesis of endothelial dysfunction, they may be used in clinical practice for risk stratification, as well as in the assessment of weight control programs.