HB - Hospital de Braga (passou a integrar o Serviço SARI em 06/2014)
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Repositório institucional do Hospital de Braga foi constituído com o objectivo de armazenar, centralizar, divulgar e dar acesso à produção científica da instituição em formato digital.
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Browsing HB - Hospital de Braga (passou a integrar o Serviço SARI em 06/2014) by Issue Date
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- Non-coronary sinus of Valsalva aneurysm diagnosed after a road traffic accidentPublication . Ribeiro, A; Fernandes, F; Costeira, A; Simões, A; Rodrigues, PA 38 year old man with a huge unruptured sinus of Valsalva aneurysm, complicated with severe valvar aortic regurgitation, is described. The aneurysm was detected by echocardiography in the asymptomatic patient who presented with an intense precordial diastolic rumble after a road traffic accident. The patient had successful surgery for the aneurysm and aortic valve replacement. Possible aetiologies for the aneurysm and a brief revision of clinical aspects and treatment are discussed.
- A comparison of microsatellite instability in early onset gastric carcinomas from relatively low and high incidence European populations.Publication . Hayden, JD; Cawkwell, L; Dixon, MF; Pardal, F; Murgatroyd, H; Gray, S; Quirke, P; Martin, IGWe have investigated the genetic basis of gastric carcinomas occurring in patients aged under 40 years from a Portuguese population with a relatively high incidence of gastric cancer. We analysed a panel of 12 microsatellite loci in DNA extracted from gastric carcinomas arising in 16 patients aged 24-39 years from Braga, Portugal. Overall, microsatellite instability (MI) in at least 1 locus was detected in 44% (7 of 16) of carcinomas. A single patient demonstrated a mutator phenotype suggestive of the hereditary nonpolyposis colorectal cancer syndrome with instability in 82% of loci. This carcinoma showed loss of expression of the hMLH1 mismatch repair protein. In a previous study, we found no evidence of MI among 10 cases of early onset gastric carcinomas from an English population, which has a relatively low incidence of gastric cancer. Comparing the 2 series, we found that there was a significant difference (p = 0.04) in the prevalence of MI (at least 1 marker affected). This geographical difference in low-level MI may be related to a significantly higher prevalence of background chronic atrophic gastritis (8 of 16 vs. 0 of 8) and Helicobacter pylori infection (15 of 16 vs. 2 of 8) in Portuguese carcinomas compared with English cases. Genetic mechanisms underlying the hereditary non-polyposis colorectal cancer syndrome may play a role in a small number of early onset gastric carcinomas. The difference in prevalence of low-level MI between these relatively high and low incidence European populations requires further investigation.
- An outbreak of occupational textile dye dermatitis from Disperse Blue 106Publication . Mota, F; Silva, E; Varela, P; Azenha, A; Massa, A
- Prevalência do anticorpo contra o vírus da Hepatite A numa população do norte de PortugalPublication . Cunha, I; Antunes, HAIM: To find the prevalence of antibody to hepatitis A virus in the population of the North of Portugal. MATERIAL AND METHODS: Ten General Practitioners were asked to provide blood samples from patients who would need blood tests for any reason other than acute hepatitis, during January and February 1996. In this way, 381 samples were obtained for assessment of anti hepatitis A virus antibodies using a commercial radioimmunassay ELISA. All subjects gave their informed consent and answered to a protocol regarding age, sex, geographic area, number of people per household and sewage systems. The statistics were performed using SPSS. RESULTS: The 381 subjects were distributed into eight age groups: I (1-4 years)--57; II (5-9 years)--57; III (10-14 years)--26; IV (15-19 years)--41; V (20-29 years)--55; VI (30-39 years)--51; VII (40-49 years)--41; VIII--(equal or more than 50 years)--53. The prevalence of anti HAV antibodies per group-percentage (number), (confidence intervals), were: I--7.0% (4) (3-17%); II--15.8% (9), (9-27%); III--26.9% (7) (14-46%); IV--51.2% (21) (37-66%); V--85.5% (47) (74-92%); VI--72.5% (37) (59-83%); VII--87.8% (36) (75-95%); VIII--88.7% (47) (80-93%). CONCLUSION: The comparison with previous data (Lecour et al.) shows improvement in sanitary conditions of population, with associated lower prevalence of anti hepatitis A virus antibody.
- Síndrome de Russel-SilverPublication . Nogueiras, AM; Costeiras, MT; Moreira, HS; Antunes, AHRussel-Silver syndrome is a pattern of malformations whose most characteristic features are intrauterine and postnatal growth retardation, a characteristic facial appearance and limb asymmetry. We report a 9-month-old male born at 37 weeks' gestation. Family history, pregnancy and delivery revealed no significant anomalies. The infant had no intrauterine growth retardation (birth weight and height ranging between the 25 th and 50 th percentile). The infant's head circumference was disproportionately large for the small facial mass. Clinical findings included a small triangular face with frontal bossing, blue sclerae, thin lips with down-turned corners, retromicrognathia, clinodactyly of the fifth finger in both hands and limb asymmetry with undergrowth of the right leg and the left arm. The patient presented postnatal growth deficiency with weight and height 5th percentile; his head circumference grew normally along the 90 th percentile. Psychomotor development was appropriate for his age (9 months) according to the Sheridan Scale. On the basis of this clinical evidence we diagnosed Russel-Silver syndrome, attributing particular relevance to the normal intrauterine growth and the crossed asymmetry of the limbs.
- Hemangioma intracranianoPublication . Rocha, J; Marques, C; Adams, A; Rodrigues, JA case of intracranial hemangioma in a neonate is described by the authors. The rarity of the condition raised differential diagnosis problems.
- 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.
- 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.
- A whole genome screen for association with multiple sclerosis in Portuguese patientsPublication . Santos, M; Pinto-Basto, J; Rio, ME; Sá, MJ; Valença, A; Sá, A; Dinis, J; Figueiredo, J; Bigotte de Almeida, L; Coelho, I; Sawcer, S; Setakis, E; Compston, A; Sequeiros, J; Maciel, PMultiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n=188) and matched controls (n=188). Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association.