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...

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.

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The introduction of highly active antiretroviral therapy (HAART) for the treatment of acquired immunodeficiency syndrome (AIDS) has resulted in greater survival of patients infected with the human immunodeficiency virus (HIV). However, the use of these drugs has been associated with lipodystrophic syndrome (LS), which is characterized by metabolic alterations (dyslipidemia, insulin resistance, diabetes, and lactic acidosis) and abnormal corporal fat distribution. Clinically, LS may manifest as three different forms: lipohipertrophy (accumulation of fat in the central part of the body), lipoatrophy (loss of fat in the extremities, face and buttocks) and mixed (lipohipertrophy + lipoatrophy). Although its physiopathology has not been elucidated, some mechanisms have been described, including leptin and adiponectin deficiency, mitochondrial dysfunction and use of antiretroviral drugs. The type, dose and duration of the antiretroviral treatment, as well as age and puberty are the main risk factors. LS is also associated with increased incidence of cardiovascular illnesses, atherosclerosis and diabetes mellitus. Treatment includes physical activity, cautious restriction of caloric intake, changes in antiretroviral therapy, and use of insulin-sensitizing and lipid-lowering agents. Follow up must be periodic, consisting of measurement of body fat distribution, evaluation of the lipid profile and insulin resistance.

Objective: To review the use, benefits and adverse effects of the main dietary supplements consumed by adolescents. Sources:The literature review was performed using MEDLINE and LILACS databases (1997-2008). We analyzed 377 articles, and 52 of them were selected as references. Summary of the findings:Consumption of dietary supplements is widely spread among adolescents. This habit has often been detected in pediatric and adolescent medicine clinics. Most of the time, the use of supplements is motivated by the search of the "ideal body." Other reasons for this practice are: attempt to compensate for an inadequate diet, increase immunity, prevent diseases, improve athletic performance and overcome their own athletic limits. The dietary supplements most frequently used and for which there is little evidence of beneficial effects in healthy adolescents are: proteins, amino acids, beta-hydroxy-betamethylbutyrate, microelements, carnitine, creatine, vitamins, caffeine, and bicarbonate. This dietary supplementation may be beneficial for competitive athletes who do not have a balanced diet after a specific dietary deficiency has been detected. Conclusion:The unrestrained consumption of dietary supplements should be avoided, since, besides the lack of evidence that such practice will lead to improvement of performance, it exposes adolescents to several adverse effects. Balanced nutrition, with intake of essential energy and nutrients is usually enough to achieve good athletic performance. The use of dietary supplements must be allowed only for selected cases in which specific nutritional deficiencies are identified. J Pediatr (Rio J). 2009;85(4):287-294:Dietary supplements, exercise, sports, puberty. ResumoObjetivo: Revisar crititcamente o uso, benefícios e efeitos adversos dos principais suplementos alimentares utilizados por adolescentes. Fontes dos dados:A pesquisa bibliográfica, realizada nos últimos 10 anos, utilizou os bancos de dados MEDLINE e LILACS. Foram examinados 377 artigos, sendo selecionados 52. Síntese dos dados:O consumo de suplementos dietéticos é amplamente difundido entre adolescentes. Tal fato é constatado, com frequência, nos consultórios de pediatria e hebeatria. Na maioria das vezes ele ocorre sem uma necessidade específica, sendo motivado pela busca do corpo ideal. Outros motivos para essa suplementação são: compensar dieta inadequada, aumentar imunidade, prevenir doenças, melhorar o desempenho competitivo e superar os próprios limites. Os suplementos alimentares mais utilizados e discutidos nesse artigo e para os quais existem poucas evidências de um efeito benéfico de sua utilização por adolescentes saudáveis são: proteínas, aminoácidos, betahidroxibetametilbutirato, microelementos, carnitina, creatina, vitaminas, cafeína e bicarbonato.Conclusão: O uso irrestrito de suplementos dietéticos deve ser desaconselhado, uma vez que expõe o adolescente a vários efeitos adversos, além da falta de evidência de que tal prática levará a melhora no desempenho. Uma nutrição balanceada, com aquisição...

Objective: To review the use, benefits and adverse effects of the main dietary supplements consumed by adolescents. Sources:The literature review was performed using MEDLINE and LILACS databases (1997-2008). We analyzed 377 articles, and 52 of them were selected as references. Summary of the findings:Consumption of dietary supplements is widely spread among adolescents. This habit has often been detected in pediatric and adolescent medicine clinics. Most of the time, the use of supplements is motivated by the search of the "ideal body." Other reasons for this practice are: attempt to compensate for an inadequate diet, increase immunity, prevent diseases, improve athletic performance and overcome their own athletic limits. The dietary supplements most frequently used and for which there is little evidence of beneficial effects in healthy adolescents are: proteins, amino acids, beta-hydroxy-beta-methylbutyrate, microelements, carnitine, creatine, vitamins, caffeine, and bicarbonate. This dietary supplementation may be beneficial for competitive athletes who do not have a balanced diet after a specific dietary deficiency has been detected. Conclusion:The unrestrained consumption of dietary supplements should be avoided, since, besides the lack of evidence that such practice will lead to improvement of performance, it exposes adolescents to several adverse effects. Balanced nutrition, with intake of essential energy and nutrients is usually enough to achieve good athletic performance. The use of dietary supplements must be allowed only for selected cases in which specific nutritional deficiencies are identified.

Objectives:This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth.Materials and Methods:Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010.Results:During the study period, 2011 new patients were evaluated. Thirteen (0.65%) patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9%) were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%); linear epidermal nevus (41.6%); hemangioma (30.7%); and lipoma (23%). Six patients fulfilled the diagnostic criteria for PS.Conclusions:The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available.

The transesterification of waste frying oil (WFO) with methanol and ethanol was studied in a batch reactor using a zinc aluminate catalyst prepared by the combustion reaction method. The reaction runs were carried out for 2 hours, using alcohol:oil molar ratio of 40:1, temperature range of 60-200°C, catalyst ratio of 1-10% wt., under 700 rpm stirring. The catalyst was characterized by XRD, EDX, TG, FTIR, N 2 physisorption, NH 3and CO 2-TPD. The catalyst showed a normal spinel structure and acid character (Lewis acid), in spite of the presence of both strong acid and base sites. Methyl and ethyl esters yields higher than 95% were obtained at 150 and 200°C and the catalyst was recovered and reused in 3 reaction cycles, without significant loss of activity.