Browsing by Author "Fonseca, M"
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- Aneurisma aterosclerótico da artéria axilar: Um caso clínico raroPublication . Antunes, LF; Baptista, A; Moreira, J; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Matos, AOs aneurismas da artéria axilar de origem aterosclerótica são raros, mas podem originar complicações vasculares e neurológicas graves no membro superior, pelo que o seu tratamento deve ser precoce. Apresentamos o caso clínico de um homem de 64 anos com aneurisma da artéria axilar direita. O doente tinha antecedentes de aneurisma da aorta torácica já excluído por via endovascular. Devido ao crescimento súbito do aneurisma com sintomas neurológicos, foi submetido a aneurismectomia total com interposição de prótese PTFE 8 não aneladada (axilo-axilar). O estudo histológico revelou tratar-se de um aneurisma de origem aterosclerótica. Em consulta de follow-up o doente apresenta melhoria clínica e prótese permeável. O presente caso clínico realça a importância e os bons resultados que o tratamento cirúrgico tem nestes doentes.
- Aneurismas poplíteos: estudo retrospectivoPublication . Baptista, A; Antunes, L; Moreira, J; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Matos, AOs autores elaboraram um estudo retrospectivo de todos os casos clínicos admitidos no seu Serviço com o diagnóstico de aneurisma poplíteo ao longo de 5 anos. Material e Métodos: Para atingir esse objectivo, procederam à consulta dos processos hospitalares de todos os doentes admitidos com o diagnóstico de aneurisma poplíteo entre 01 de Janeiro de 2004 e 31 de Dezembro de 2008. Resultados: De um total de 61 doentes, 37 (60,7%) apresentavam aneurismas bilaterais. Desses 61 doentes, 58 eram do sexo masculino e 3 do feminino, sendo a média de idades de 66,9 ± 11,6 anos. 36,1% dos doentes apresentavam também aneurismas noutras localizações. Os aneurismas eram, na sua maioria, assintomáticos. Quando sintomáticos, a forma de apresentação mais frequente foi a isquémia aguda por trombose do aneurisma. Dentro da totalidade dos aneurismas poplíteos (n=98), 37 foram operados electivamente, 29 de urgência e 32 não foram operados. As intervenções cirúrgicas de eleição foram a exclusão do aneurisma através de bypass femoro-poplíteo distal com veia safena interna (n=48) ou com prótese (n=16). As taxas de patência primária aos 30 dias foram de 98% com o uso de veia e de 68,8% com prótese, tendo motivado 3 amputações supracondilianas. Conclusões: Os aneurismas poplíteos são mais prevalentes no sexo masculino, frequentemente bilaterais, e existe uma forte relação entre estes e aneurismas noutras localizações/megadistrofia arterial generalizada. O tratamento cirúrgico ideal é o realizado electivamente com material autólogo, sendo as taxas de patência com o recurso a material protésico bastante inferiores.
- Avaliação clínica da icterícia neonatalPublication . Fonseca, M; Nordeste, A; Resende, C; Taborda, A; Ramos, C
- Uma causa rara de hipertensão portal: Caso clínicoPublication . Moreira, J; Antunes, L; Baptista, A; Pereira, R; Gonçalves, A; Anacleto, G; Alegrio, J; Fonseca, M; Gonçalves, O; Furtado, E; A, MatosApresenta-se caso clínico de doente com quadro de hipertensão portal pela presença de fístula artério-venosa entre a artéria gastroduodenal e a veia porta. Indivíduo do sexo masculino, de 77 anos, previamente saudável, com ascite volumosa de instalação recente. Hemorragia digestiva alta por rotura de varizes esofágicas. TAC abdominal revelando acentuada dilatação da veia porta (30 mm), envolvida em fístula artério-venosa com origem na artéria gastroduodenal; fígado sem estigmas de hepatopatia crónica e sem nódulos; ascite volumosa. Procedeu-se à laparotomia com drenagem de ascite, isolamento e laqueação do trajecto fístuloso entre a artéria gastroduodenal e a veia porta. Sem complicações intra-operatórias. Ao 18º dia, após regressão da ascite, teve alta medicado com diuréticos
- Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 genePublication . Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling.
- Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosisPublication . Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, EDilated fetal bowel is a sonographic fi nding that is associated to meconium ileus, a feature of cystic fi brosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fi brosis transmembrane regulator gene mutations. A male infant is described, who was referred to our Prenatal Diagnosis Center a 17th week of gestation with a dilated bowel loop on a prenatal scan. Amniocentesis was performed at 23rd week gestation and a homozygous F508del mutation was found. He was born at 38 weeks gestation, after an otherwise unremarkable pregnancy, and admitted to Neonatal Intensive Care Unit. He showed progressive abdominal distension without stools and was transferred to another Hospital to surgery. A total occlusion of terminal ileum with meconium and a microcolon were found, and resection of 8 cm of ileum and an ileostomy were performed. The characteristic sonographic fi nding of a dilated bowel is an indication to search for CF mutations.
- Epidemiologia da gestação múltipla: casuística de 15 anosPublication . Rodrigues, CT; Branco, MR; Ferreira, ID; Nordeste, A; Fonseca, M; Taborda, A; Santos-Silva, I; Almeida, MCBetween January of 1987 and December of 2001 were born 1243 twins related to 609 multiple pregnancies, in Maternidade Bissaya-Barreto. Data were grouped in periods of three years and several parameters were studied. The rate of multiple gestation has increased probably due to the contribution of the assisted conception techniques, and to the increase of the number of multiple fetal pregnancies (two or more) and to the increase of the mother age. These more frequent obstetric problems were preterm birth, gestational hypertension and abnormal sonographic data of fetal growth. The average age of delivery was 34 weeks and the birth weight has decreased. The most important factors for neonatal morbidity were hyaline membranous disease, intraventricular haemorrhage and the twin-twin transfusion syndrome. The neonatal mortality decreased in the last studied period.
- Metabolic factors in obesityPublication . Brito, N; Fonseca, M; Dinis, I; Mirante, AObesity has a rising prevalence in children and adolescents, affecting 30% of the paediatric population in Portugal. Leptin is an important hormone involved in the pathogenesis of obesity and has been under investigation as a risk marker for future complications. AIMS: 1. To evaluate the relation between serum leptin levels and body mass index (BMI) and height. 2. To compare leptin levels in obese and non-obese children. 3. To evaluate the relation between leptin levels and insulin resistance index. METHODS: Cross-sectional study, using a sample of 70 obese children and a control group of 53 non-obese children. Obesity was defined as BMI standard deviation > 2 for age and sex. In the obese group we assessed sex, age, BMI SDS and height SDS for age and sex, and serum levels of glucose, insulin and leptin. In the control group were obtained BMI SDS and height SDS for age and sex and leptin levels. Data were analysed using SPSS 12. RESULTS: The mean age of obese and non-obese children was 10.3 +/- 2.9 versus 10.9 +/- 3.5 years. In the obese group, 32 (45.7%) were boys versus 18 (31.0%) in the non-obese group. BMI SDS in the obese group was 3.12 +/- 0.60 versus 0.20 +/- 0.99 in the non-obese group (p < 0.001). Leptin levels showed a positive correlation with BMI SDS (r = 0.69; p < 0.001) and height SDS (r = 0.31; p < 0.001). When comparing leptin levels between obese and non-obese groups, we found a significant difference in boys (50.7 +/- 27.3 versus 7.0 +/- 6.8 ng/ml; p < 0.001) and in girls (57.6 +/- 25.5 versus 16.5 +/- 10.3 ng/ml; p < 0.001). In the nonobese group, leptin levels were lower in boys. This difference was not seen in the obese group. Leptin showed a positive correlation with insulin resistance index in boys (r = 0.45, p = 0.05), but not in girls. CONCLUSIONS: This study has confirmed a positive correlation between leptin levels and BMI SDS. In obese children elevated leptin is associated with central resistance to its action. The positive correlation of leptin with insulin resistance index may suggest a major role of leptin in insulin resistance.
- 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