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- Ghrelin and obestatin: Different role in fetal lung development?Publication . Nunes, S; Nogueira-Silva, C; Dias, E; Moura, RS; Correia-Pinto, JGhrelin and obestatin are two proteins that originate from post-translational processing of the preproghrelin peptide. Various authors claim an opposed role of ghrelin and obestatin in several systems. Preproghrelin mRNA is significantly expressed in airway epithelium throughout lung development, predominantly during the earliest stages. The aim of this study was to evaluate the role of ghrelin and obestatin in fetal lung development in vitro. Immunohistochemistry studies were performed at different gestational ages in order to clarify the expression pattern of ghrelin, GHS-R1a, obestatin and GPR39 during fetal lung development. Fetal rat lung explants were harvested at 13.5 days post-conception (dpc) and cultured during 4 days with increasing doses of total ghrelin, acylated ghrelin, desacyl-ghrelin, ghrelin antagonist (D-Lys(3)-GHRP-6) or obestatin. Immunohistochemistry studies demonstrated that ghrelin, GHS-R1a, obestatin and GPR39 proteins were expressed in primitive rat lung epithelium throughout all studied gestational ages. Total and acylated ghrelin supplementation significantly increased the total number of peripheral airway buds, whereas desacyl-ghrelin induced no effect. Moreover, GHS-R1a antagonist significantly decreased lung branching. Finally, obestatin supplementation induced no significant effect in the measured parameters. The present study showed that ghrelin has a positive effect in fetal lung development through its GHS-R1a receptor, whereas obestatin has no effect on lung branching.
- 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.
- Novel ABCA3 mutations as a cause of respiratory distress in a term newbornPublication . Gonçalves, JP; Pinheiro, L; Costa, M; Silva, A; Gonçalves, A; Pereira, AWe report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
- Mauriac syndrome still existsPublication . Dias, J; Martins, S; Carvalho, S; Marques, O; Antunes, ABACKGROUND/OBJECTIVE: Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1). It is related to low insulin concentrations and is less common since longer-acting insulins became available. It is characterized by hepatomegaly, growth and puberty delay, and the presence of elevated transaminases and serum lipids. The aim of this study was to describe the patients from a pediatric diabetic population that fulfill the criteria of MS. MATERIALS AND METHODS: A retrospective analysis of the pediatric diabetic population with diagnostic criteria of MS currently followed at Hospital de Braga, was performed. RESULTS: From a population of 91 patients with DM1 18 years, 6 patients with the criteria for MS were identified: 5 girls, and 1 boy. The age at presentation was 13-17 years, with a minimum interval between DM1 diagnosis and MS criteria of 4 years. All the patients were prescribed intensive insulin therapy (median daily insulin dose: 0.88 U/kg). All had a previous history of poor glycemic control before the diagnosis of MS with glycated hemoglobin (HbA1c) between 8.8 and 12.9%. Increase of hepatic enzymes was present in all the patients; 4 of them had associated hepatomegaly. All the girls presented puberty delay and cushingoid features. None of the patients presented short stature and 5 of them presented mixed dyslipidemia. CONCLUSIONS: Although MS is an ancient entity described in DM1, it still exists, particularly in adolescent females. Being aware of MS is of extreme importance since most of the clinical features are reversible with better glycemic control.
- 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.
- 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.
- Determinantes da colonização materna e da infecção neonatal por Streptococcus do grupo BPublication . Areal, A; Moreira, M; Nunes, S; Faustino, MA; Cardoso, L; Sá, CAim and Objective: During the past three decades, group B Streptococcus (GBS) neonatal infection has been the subject of little research. The aim of this study was to evaluate the association between maternal risk factors, as established by the Center for Disease Control and Prevention (CDC), and maternal colonization. We also analysed the association between risk factors present in newborns and early-onset GBS disease. Study design: Cross-sectional study. Population: All pregnant women admitted for delivery in our institution and their newborns, between 1st February and 31st July 2005. Methods: Maternal and neonatal characteristics were collected from hospital clinical data, including information on risk factors established by the CDC. Descriptive statistics was used to characterize the study sample. Qui-square and Mantel-haenszel tests were applied to compare proportions and to measure the strength of associations, respectively, setting significance at p < 0,05. Results: In this sample only 47% of women were screened for GBS colonization in suitable time and 34,9% of these women were colonized. The incidence of early neonatal infection by SGB was 9/1000 neonates. Significant associations between GBS maternal colonization ant the following parameters were observed: maternal age [p=0,012; OR=1,659 (IC a 95%, 1,218-2,260)], gestational age at labour [p=0,001; OR= 2,621 (IC a 95%, 1,641- 4,188)], and urinary GBS infection during pregnancy (p<0,001). Maternal colonization occurred in women without CDC defined risk factors. Early neonatal infection by SGB was strongly associated with unscreened women (p=0,014). Conclusion: In this study, maternal GBS colonization occurred in the absence of CDC defined risk factors and varied according to maternal age and gestational week. Neonatal GBS infection was more frequent in unscreened women.
- Caso radiológicoPublication . Nascimento, J; Gomes, M; Moreira, C; Macedo, F
- Chediak-Higashi syndrome: pathognomonic featurePublication . Antunes, H; Pereira, A; Cunha, I
- Diagnosing Schmidt Syndrome in AdolescencePublication . Costa, M; Martins, S; Mota, F; Marques, O; Antunes, AA poli-endocrinopatia auto-imune tipo II divide-se em 2 síndromes: o síndrome de Schmidt, que se caracteriza pela associação entre a doença de Addison (DA) e tiroidite auto-imune, e o síndrome de Carpenter, em que há associação entre estas e diabetes tipo 1. É uma patologia rara, particularmente em idade pediátrica. Apresenta-se o caso de uma adolescente de 14 anos, do sexo feminino, orientada para a consulta do Grupo Endocrinológico Pediátrico por hipotiroidismo primário, no contexto de tiroidite de Hashimoto, estando medicada há cerca de 1 mês com levotiroxina. Negava sintomatologia característica ou infecções recentes. Na observação apresentava cabelo fino e ralo, hiper-pigmentação difusa e brilho cutâneo. Perante este quadro clínico foi colocada a hipótese de DA, que foi confirmada analiticamente. Iniciou tratamento com hidrocortisona e fludrocortisona, com melhoria clínica. (Comentários) Nesta doente só a presença de hiper-pigmentação cutânea e mucosa levantou a suspeita de DA, permitindo chegar ao diagnóstico de síndrome de Schmidt. É uma patologia muito rara em idade pediátrica. São dados favoráveis a este diagnóstico: o doseamento de cortisol matinal normal ou baixo, e um valor de ACTH muito alto. A determinação isolada de cortisol não tem valor diagnóstico, uma vez que pode ser normal e não ocorrer a elevação esperada em situações de 'stress' metabólico, como p. ex. doença aguda. O diagnóstico pode ser confirmado com uma prova de estimulação com ACTH, em que se verifica ausência da normal elevação dos níveis de cortisol. Nesta doente o valor elevado de ACTH perante doseamentos de cortisol diminuídos, inclusive na prova de estimulação com tetracosatido, possibilitou a confirmação diagnóstica definitiva. A hiponatrémia é um dado diagnóstico importante, permitindo inferir insuficiência mineralo-corticóide. A utilização de fludrocortisona no tratamento desta adolescente possibilitou não só a compensação do referido défice mineralo-corticóide, mas também a utilização de menor dose de glicocorticóide, reduzindo os efeitos secundários desta terapêutica. O doseamento da actividade plasmática de renina não foi efectuado, por dificuldades na sua determinação no nosso hospital. Investigou-se causa auto-imune, visto que é esta a mais frequente em idade pediátrica. A ausência de causas infecciosas, alterações imagiológicas ou exposição a fármacos tornaram menos prováveis outras etiologias. Como patologia auto-imune este síndrome caracteriza-se pela presença de auto-anticorpos (Ac), sendo os Ac anti-córtex supra-renal positivos em 85% dos casos, contra 70% nos casos de doença de Addison isolada. A sua negatividade não exclui no entanto o diagnóstico desta patologia, como ocorreu neste caso. Os doentes com síndrome poli-glandular necessitam de seguimento cuidado, no sentido de identificar precocemente outras doenças auto-imunes que poderão surgir concomitantemente, e evitar a sua progressão. Estas doenças podem surgir em qualquer idade, e como tal a negatividade inicial dos auto-anticorpos não permite excluí-las. O tratamento da insuficiência supra-renal é um tratamento de substituição para toda a vida, com necessidade de ajustes terapêuticos durante o crescimento e em situações de 'stress' metabólico. Foi efectuado, como é recomendado, plano terapêutico de emergência para situações de 'stress' metabólico, de forma a prevenir a descompensação aguda. Neste caso o início da terapêutica com levotiroxina terá agravado os sinais clínicos de insuficiência supra-renal. Dada a precocidade do diagnóstico, evitou-se a forma de apresentação mais grave de crise adrenal aguda, e a adolescente não chegou a apresentar sintomatologia significativa. Destaca-se a importância da suspeição diagnóstica de DA perante um quadro clínico de hiper-pigmentação cutânea progressiva, particularmente com hipotiroidismo ou outra doença auto-imune simultânea.