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Browsing HB - GAS - Artigos by Author "Antunes, H"
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- G2P[4] the most prevalent rotavirus genotype in 2007 winter season in an European non-vaccinated populationPublication . Antunes, H; Afonso, A; Iturriza, M; Martinho, I; Ribeiro, C; Rocha, S; Magalhães, C; Carvalho, L; Branca, F; Gray, JBACKGROUND: Recently, a high prevalence of G2P[4] rotavirus (RV) infection was reported from Brazil, and linked with the universal RV vaccination programme that used the G1P[8] live oral RV vaccine. OBJECTIVE: To determine the genotypes of RV co-circulating in a non-vaccinated population, in northern Portugal in the winter season of 2007. STUDY DESIGN: Prospective multicenter study of the genotypes circulating in the northwest region of Portugal during January to March 2007. Children with acute gastroenteritis, who attended the Pediatric Emergency Services of five Hospitals, were included in the study. The parents of the children completed a clinical and epidemiological data questionnaire and stool samples were collected. Stool samples positive in a RV enzyme immunoassay (EIA) were genotyped by reverse transcriptase-polymerase chain reaction. RESULTS: Stool samples were collected from 424 children. Two hundred and thirty-four (55.2%) stool samples were RV-positive. G2P[4] was the predominant RV type (68.6%), followed by G9P[8] (14.0%). CONCLUSIONS: Because our population was naïve for RV vaccine, the G2P[4] predominance cannot be explained by vaccination. Rather, this high prevalence of G2P[4] may be within the normal fluctuation of RV genotypes. RV strain surveillance programmes are important for informing RV vaccination programmes.
- Immune disease expressed in liver and platelets in an adolescent: a case reportPublication . Antunes, H; Rocha, R; Silva, N; Pontes, T; Antunes, A; Martins, SWe report a case of a 15-year-old boy with autoimmune hepatitis lacking common serologic markers and normal gammaglobulinemia associated with immune thrombocytopenia and family history of psoriasis. He presented to our department with a 4-year history of a cervical posterior lymphadenopathy and recent petechiae. Previous laboratory results 6 months before already showed hepatocellular injury. After exclusion of other causes, the diagnosis of autoimmune hepatitis was made based on clinical grounds, associated immune disorder and histological features of liver biopsy.The authors alert for this atypical presentation of autoimmune hepatitis and associated immune thrombocytopenia.
- 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.
- A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problemsPublication . Antunes, H; Gonçalves, JP; Silva, E; Teles, NThe phenotype and severity of symptoms associated with deletions on chromosome 7 are directly proportional to the size of the deleted segment. Distal and interstitial deletions have been described in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion on chromosome 7, with the following karyotype: 46,XX,del(7)(p14.2 p15.1). We described a female, born at 38 weeks with intrauterine growth restriction and feeding problems with episodes of cyanosis after feedings and failure to thrive. Physical examination showed low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, and palate ogived, with insertion anomalies of the toes, poor facial expression and mild axial hypotonia. Transfontanelar ultrasound, magnetic resonance imaging, bronchofibroscopy and metabolic studies were normal. She was hospitalized until the 32nd day of life. She started speech therapy and presented improvements in swallowing. The percutaneous endoscopic gastrostomy was removed at 36 months. She had recurrent urinary tract infection with normal dimercaptosuccinic acid but with a vesicoureteral reflux (grade III). Imagiological studies revealed a bilateral osteonecrosis of femoral epiphysis (Legg-Calvé-Perthes disease). Currently (6years-old), she is being normally fed (body mass index=15.8kg/m(2)). Her weight is 16.4kg (3rd centile) and length is 105cm (3rd to 5th centiles). She has a mild delay of psychomotor development impairment and some speech problems. This is the first case report of a patient with this de novo small interstitial deletion on chromosome 7. This rare chromosomal abnormality was associated with severe feeding problems in the first years of life.
- Peutz-Jeghers syndrome: capsule endoscopy to stage diseasePublication . Antunes, H; Nascimento, J; Peixoto, P
- Peutz-Jeghers syndrome: capsule endoscopy to stage diseasePublication . Antunes, H; Nascimento, J; Peixoto, P
- Primeira determinação de prevalência de doença celíaca numa população portuguesaPublication . Antunes, H; Abreu, I; Nogueira, A; Sá, C; Gonçalves, C; Cleto, P; Garcia, F; Alves, A; Lemos, DThe prevalence of celiac disease is unknown in Portugal. In European countries the prevalence is between 1:200 and 1:400. The incidence obtained through diagnosed cases in the paediatric gastroenterology units in Portugal was 1:3648. To determine the best current celiac disease screening method and its prevalence in a portuguese population, 536 sera of teenagers with 14 years +/- 6 months from Braga town schools were tested as follows: a) total IgA, b) anti-tissue transglutaminase antibodies c) anti-endomysium antibodies (AEA). One female adolescent, with negative AEA and anti-transglutaminase antibodies had a diagnosed celiac disease; this patient was under appropriate diet. Eleven adolescents had positive anti-transglutaminase antibodies and 4 of these had also positive AEA. A jejunal biopsy was carried out on the latter adolescents. Three presented intestinal villous atrophy, 2 a flat mucosa and 1 a moderate atrophy. One female adolescent had a normal mucosa. The prevalence was 1:134, [confidence interval at 95%, 1:53-1:500]. Conclusions: Presently, total IgA with determination of anti-tissue transglutaminase antibodies is apparently the best screening method; it is less expensive test and, given the use of ELISA, less dependent on the observer. The celiac disease prevalence found in the present study falls within the range of prevalence recently found in other European populations, which implies that the celiac disease is under-diagnosed in Portugal.
- Psychosocial correlates of overweight and obesity in infancyPublication . Gonçalves, S; Silva, D; Antunes, H
- Serum leptin levels in overweight children and adolescentsPublication . Antunes, H; Santos, C; Carvalho, SLeptin is an adipocyte-secreted hormone which plays a key role in energy homeostasis. Our aim was to determine the relationship between serum leptin and clinical and biochemical features in overweight children and adolescents. Overweight children and adolescents followed in this Unit with serum leptin ascertained were included. Clinical, biochemical and abdominal ultrasound data were analysed. Statistical analysis was performed by t test, chi2, Pearson's correlation and linear regression. One outlier of serum leptin was excluded to perform correlation and regression. Serum leptin was determined in 357 patients. At the first visit, the mean age was 9.5 (sd 3.2) years and mean BMI z-score was 1.72 (sd 1.34) (girls 1.71 (sd 1.16); boys 1.72 (sd 1.11)). Serum leptin levels were significantly related to: sex (mean: girls 48.0 ng/ml, boys 34.4 ng/ml; P = 0.003); Tanner stage (mean: I-II 37.0 ng/ml, III-V 45.2 ng/ml; P = 0.035); systolic blood pressure (mean: normal 41.3 ng/ml, high 44.0 ng/ml; P = 0.009); BMI z-score (r 0.136; P = 0.010); C-peptide (r 0.17; P = 0.002); insulin (r 0.34; P < 0.001); homeostasis model assessment of insulin resistance (HOMA-IR) (r 0.25; P < 0.001) and aspartate aminotransferase (r - 0.12; P = 0.023). In the multivariate analysis (with leptin as the dependent variable and sex, Tanner stage, BMI z-score, systolic blood pressure, aspartate aminotransferase, C-peptide, insulin and HOMA-IR as independent variables), sex and BMI were determinant factors. The present study in overweight children and adolescents showed that being female and greater BMI were significantly and independently associated with increased serum leptin. In this large cohort other associations with leptin described in the literature can be discharged.