Browsing by Issue Date, starting with "2002"
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- O atraso de desenvolvimento nas crianças com anemia por deficiência de ferro. Poderá ser revertido pela terapêutica com ferro?Publication . Antunes, H; Gonçalves, S; Teixeira-Pinto, A; Costa-Pereira, AOBJECTIVE: To compare development of 17 children aged 12 months with iron deficiency anaemia (IDA) and 18 controls without IDA after a 3-months follow-up period and iron therapy in the IDA group. SUBJECTS AND METHODS: Development of all children was evaluated using the Griffith's Scale. Data was collected on parent's social class and education, breast-feeding, number of siblings and clinical nutritional status. RESULTS: At 12 months children with IDA had significantly lower development scores--mean (sd)--than those without IDA: 112(5) vs. 121(7). At 15 months, after iron therapy, there were no significant differences between cases and controls. Non-IDA children showed significantly lower development scores at 15 months when compared with 12 months (121 vs 115). CONCLUSIONS: The study shows that iron therapy can revert some of the adverse effects in the development of children with IDA and therefore both IDA prevention and treatment can be justified.
- Sudden death and variant anginaPublication . Costa, J; Pereira, MA; Correia, A; Rebelo, A; Araúlo, AOVariant angina is defined by chest pain occurring at rest associated with transitory ST segment elevation on ECG, and is caused by a spasm of a coronary artery. Frequently, variant angina is associated with atherosclerotic coronary obstruction and patients with normal coronary arteries are rare. Patients with variant angina and normal coronary arteries have good prognosis, and the development of ventricular arrhythmias or sudden death is rare. The authors present two cases of sudden cardiac death in patients with variant angina and normal coronary arteries.
- Penile fracture: review of 7 casesPublication . Cabral-Ribeiro, J; Sousa, L; Silva, C; Mendes, V; Garcia, P; Santos, A
- Escroto agudo e torção do cordão espermáticoPublication . Cabral-Ribeiro, J; Sousa, L; Ribeiro dos Santos, A
- A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locusPublication . Milili, M; Antunes, H; Blanco-Betancourt, C; Nogueiras, A; Santos, E; Vasconcelos, J; Castro e Melo, J; Schiff, CMales with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells. In these cases, blockages between the pro-B and pre-B cell stage in the bone marrow are found. The remaining male and female cases clinically similar to XLA represent a genotypically heterogeneous group of diseases. In these patients, various autosomal recessive disorders have been identified such as mutations affecting IGHM, CD79A, IGLL1 genes involved in the composition of the pre-B cell receptor (pre-BCR) or the BLNK gene implicated in pre-BCR signal transduction. In this paper, we report on a young female patient characterised by a severe non-XLA agammaglobulinaemia that represents a new case of Igmu defect. We show that the B cell blockage at the pro-B to pre-B cell transition is due to a large homologous deletion in the IGH locus encompassing the IGHM gene leading to the inability to form a functional pre-BCR. The deletion extends from the beginning of the diversity (D) region to the IGHG2 gene, with all JH segments and IGHM, IGHD, IGHG3 and IGHG1 genes missing. CONCLUSION: alteration in Igmu expression seems to be relatively frequent and could account for most of the reported cases of autosomal recessive agammaglobulinaemia.
- Leiomioma da bexiga simulando neoplasia do úracoPublication . Cabral-Ribeiro, J; Sousa, L; Silva, C; Garcia, P; Mendes, V; Ribeiro dos Santos, AAs neoplasias de origem mesenquimatosa da bexiga são raras. Os leiomiomas representam a neoplasia mesenquimatosa benigna mais frequente da bexiga compreendendo de 0.2 a 0.5% de todos os tumores vesicais. A apresentação clínica é extremamente variável dependendo sobretudo da localização do tumor (intramural, extramural ou submucoso). Apresentamos um caso clínico de um leiomioma de localização ao nível da cúpula/superfície anterior de bexiga, de crescimento extramural que simulou neoformação do úraco.
- Fístulas enterovesicais. Revisão a propósito de dois casos clínicos.Publication . Cabral-Ribeiro, J; Silva, C; Sousa, L; Mesquita Robrigues, A; Ribeiro dos Santos, A