Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.

ResumoObjetivo: Apresentar uma revisão atualizada e prática sobre como efetuar de forma segura a retirada da corticoterapia. Fontes dos dados:Revisão da literatura utilizando os bancos de dados MEDLINE e LILACS (1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007), selecionando os artigos mais atuais e representativos do tema. Síntese dos dados:Três situações clínicas podem ocorrer durante a retirada da corticoterapia prolongada: insuficiência adrenal secundária à supressão do eixo hipotálamo-hipófise-adrenal, síndrome de retirada ou deprivação dos corticóides e reativação da doença de base. Embora não exista consenso sobre o melhor esquema para descontinuar a terapia prolongada com corticóides, existe concordância quanto ao fato desta retirada ser gradual. Este artigo atualiza o pediatra quanto ao reconhecimento desses problemas e fornece orientações para a suspensão do tratamento prolongado com corticóide. Uma breve revisão da farmacologia dos corticóides também é descrita. Conclusão:Não existe teste com bom valor preditivo para antecipar o risco de insuficiência adrenal nos pacientes que receberam terapia crônica com corticóide. São necessários estudos prospectivos para avaliar a real incidência desse problema e assim propor estratégias racionais para sua prevenção. No momento, a menos que a integridade do eixo hipotálamo-hipófise-adrenal esteja estabelecida por testes dinâmicos, recomenda-se a administração de corticóide em situações de estresse nos pacientes que fizeram uso de corticoterapia crônica e/ou em doses elevadas.J Pediatr (Rio J). 2008;84(3):192-202: Insuficiência adrenal; síndrome de Cushing; síndrome de retirada dos corticóides; corticóides. AbstractObjective: To present an up-to-date and practical review of how to safely withdraw glucocorticosteroid therapy.Sources: A review of the published literature identified by searching the MEDLINE and LILACS databases (1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007), selecting the most representative articles on the subject. Summary of the findings:Three clinical situations may occur during glucocorticoid withdrawal: adrenal insufficiency secondary to negative feedback on the hypothalamic-pituitary adrenal (HPA) axis, steroid withdrawal syndrome and relapse of the disease for which the glucocorticoids were prescribed. Although there is no consensus on how to best discontinue prolonged glucocorticosteroid therapy, there is agreement that this withdrawal should be gradual. This article updates pediatricians on how to recognize these problems and provides recommendations on how to safely suspend glucocorticosteroid therapy. A brief review of the pharmacology of glucocorticoids is also presented. Conclusion:There is no good predictive test for predicting the risk of adrenal insufficiency in patients who have been on corticosteroid therapy chronically. There is a need for prospective studies to assess the true incidence of this problem and to propose rational strategies for preventing it. The current recommendation is that patie...

The energy conversion of nickel-impregnated coconut shells using supercritical water has not yet been explored. The impregnation process was conducted at room temperature and a pH of 5.80 for 72 h. Characterization of the prepared sample confirmed the presence of nickel nanoparticles with an average size of 7.15 nm. The gasification of control and impregnated samples was performed at 400–500 °C, biomass loading from 20 to 30 wt% and residence time from 20 to 60 min. The response surface methodology (RSM) approach, with a Box–Behnken method, was used to design the experiments. The optimization model showed that the non-catalytic process at 500 °C, 60 min and 20 wt% of biomass loading could promote an H2 yield of 8.8 mol% and gasification efficiency of 47.6%. The gasification of nickel-impregnated coconut shells showed significantly higher gasification efficiency (58.6%) and hydrogen yield (17.2 mol%) with greater carbon and hydrogen efficiencies (109.4 and 116.9%) when compared to the non-catalytic process. The presence of nickel particles in the biomass matrix as nanocatalysts promoted higher hydrogen production and supercritical water gasification efficiency.