O aluno com diabetes: avaliação dos pais sobre o ambiente escolar / The student with diabetes: parental assessment of the school environment

Introdução: O diabetes mellitus tipo 1 (DM1) é uma das doenças crônicas mais comuns da infância. O adequado controle do DM1 engloba uma ação multidisciplinar e envolve ambientes nos quais as crianças passam grande parte do tempo do seu dia, as escolas. Objetivos: Identificar a realidade vivenciada pelo aluno com diabetes no ambiente escolar sob a visão dos pais ou responsáveis. Métodos: Aplicado um questionário a 200 pais ou responsáveis por alunos com diabetes matriculados na educação infantil, nos ensinos fundamental e médio de escolas públicas e privadas de Belo Horizonte, compreendidos entre a faixa etária dos quatro aos dezoito anos. Resultados: A escolha da escola pelos pais foi influenciada pelo fato da criança ter diabetes em 16,5% dos casos. Houve negação inicial de matrícula. Foram necessárias explicações sobre o DM1 para os professores em 67,5% dos casos. Para 74,5% dos pais, os professores das escolas envolvidas não possuem o conhecimento necessário sobre diabetes. A maioria das crianças tem a permissão para realizar a glicemia capilar em sala de aula. Cerca de 54,5% dos alunos com diabetes fazem o uso de insulina na escola, entretanto, grande parte delas não oferecem um local específico para tal procedimento. A merenda escolar foi considerada inadequada. Houve relato de bullying. Alguns foram impedidos de participarem de excursões e até mesmo da educação física. Conclusão: Os alunos com DM1 vivenciam uma realidade inadequada no ambiente escolar. A maioria das escolas não está preparada do ponto de vista técnico e estrutural para receber estas crianças.

Introduction: Type 1 diabetes mellitus (DM1) is one of the most common chronic diseases in childhood. Proper control of DM1 encompasses a multidisciplinary action and involves environments in which children spend much of their day, such as schools. Objectives: To identify the reality experienced by students with diabetes in the school environment from the perspective of parents or guardians. Methods: A questionnaire was applied for 200 parents or guardians of students with diabetes enrolled in early childhood education, in the elementary and high schools of public and private schools in Belo Horizonte, in the age group of four to eighteen years. Results: The parents' choice of school was influenced by the fact that the child had diabetes in 16.5% of cases. There was an initial denial of registration on school. Explanations about DM1 were needed for teachers in 67.5% of cases. For 74.5% of parents, school teachers do not have the necessary knowledge about diabetes. Most children are allowed to take capillary blood glucose in the classroom. About 54.5% of students with diabetes use insulin at school, however, in most of them there are not a specific place for such procedure. The school meal was considered inadequate. There was a bullying relationship. Some students were prevented from getting involved in extracurricular activities such as excursions and in physical education. Conclusion: Students with DM1 experience an inadequate reality in the school environment. Most schools are not technically and structurally prepared to receive these children.

Early changes in adipokines from overweight to obesity in children and adolescents / Alterações precoces nos níveis de adipocinas de sobrepeso para obesidade em crianças e adolescentes

Abstract Objective: Childhood obesity has been associated with metabolic syndrome and cardiovascular diseases. This study aimed to compare plasma levels of traditional metabolic markers, adipokines and soluble tumor necrosis factor receptor type 1 (sTNFR1) in overweight, obese and lean children. We also assessed the relationships of these molecules with classical metabolic risk factors. Methods: This study included 104 children and adolescents, which were grouped as: lean (n = 24), overweight (n = 30), and obese subjects (n = 50). They were subjected to anthropometrical, clinical and laboratorial measurements. All measurements were compared between groups. Correlation analyses were also performed to evaluate the association between clinical data, traditional metabolic markers, adipokines and sTNFR1. Results: Fasting glucose, insulin, homeostatic model assessment of insulin resistance (HOMA-IR), LDL-cholesterol and triglycerides were comparable in lean, overweight and obese subjects. Plasma levels of sTNFR1 were similar in lean and overweight subjects, but significantly increased in obese group. Leptin, adiponectin and resistin levels did not differ when overweight were compared to obese subjects. However, all adipokines differed significantly when lean subjects were compared to overweight and obese individuals. Plasma levels of adiponectin were negatively correlated with body mass index (BMI), whereas leptin, resistin and sTNFR1 concentrations positively correlated with BMI. Conclusion: Our results showed significant differences in circulating levels of the evaluated markers when lean, overweight and obese individuals were compared, suggesting that these biomarkers may change from lean to overweight and from overweight to obesity.

Resumo Objetivo: A obesidade na infância tem sido associada à síndrome metabólica e a doenças cardiovasculares. O objetivo deste estudo foi comparar níveis plasmáticos de marcadores metabólicos tradicionais, adipocinas e do receptor solúvel de fator de necrose tumoral tipo 1 (sTNFR1) em crianças com sobrepeso, obesas e magras. Também avaliamos as relações dessas moléculas com fatores de risco metabólico clássicos. Métodos: Este estudo incluiu 104 crianças e adolescentes, agrupados da seguinte forma: indivíduos magros (n = 24), com sobrepeso (n = 30) e obesos (n = 50). Eles foram submetidos a medições antropométricas, clínicas e laboratoriais. Todas as medições foram comparadas entre os grupos. Também foram feitas análises de correlação para avaliar a associação entre dados clínicos, marcadores metabólicos tradicionais, adipocinas e sTNFR1. Resultados: Glicemia de jejum, insulina, modelo de avaliação da homeostase da resistência à insulina (HOMA-IR), colesterol LDL e triglicerídeos foram comparáveis em indivíduos magros, com sobrepeso e obesos. Os níveis plasmáticos de sTNFR1 foram similares em indivíduos magros e com sobrepeso, porém significativamente maiores no grupo obeso. Os níveis de leptina, adiponectina e resistina não diferiram quando indivíduos com sobrepeso foram comparados aos obesos. Contudo, todas as adipocinas diferiram significativamente quando indivíduos magros foram comparados a indivíduos com sobrepeso e obesos. Os níveis plasmáticos de adiponectina estavam negativamente correlacionados ao índice de massa corporal (IMC), ao passo que as concentrações de leptina, resistina e sTNFR1 estavam positivamente correlacionadas ao IMC. Conclusão: Nossos resultados mostraram diferenças significativas nos níveis circulantes dos marcadores avaliados ao comparar indivíduos magros, com sobrepeso e obesos. Isso sugere que esses biomarcadores poderão mudar de indivíduos magros para indivíduos com sobrepeso e de indivíduos com sobrepeso para obesos.

Early changes in adipokines from overweight to obesity in children and adolescents.

OBJECTIVE: Childhood obesity has been associated with metabolic syndrome and cardiovascular diseases. This study aimed to compare plasma levels of traditional metabolic markers, adipokines and soluble tumor necrosis factor receptor type 1 (sTNFR1) in overweight, obese and lean children. We also assessed the relationships of these molecules with classical metabolic risk factors. METHODS: This study included 104 children and adolescents, which were grouped as: lean (n=24), overweight (n=30), and obese subjects (n=50). They were subjected to anthropometrical, clinical and laboratorial measurements. All measurements were compared between groups. Correlation analyses were also performed to evaluate the association between clinical data, traditional metabolic markers, adipokines and sTNFR1. RESULTS: Fasting glucose, insulin, homeostatic model assessment of insulin resistance (HOMA-IR), LDL-cholesterol and triglycerides were comparable in lean, overweight and obese subjects. Plasma levels of sTNFR1 were similar in lean and overweight subjects, but significantly increased in obese group. Leptin, adiponectin and resistin levels did not differ when overweight were compared to obese subjects. However, all adipokines differed significantly when lean subjects were compared to overweight and obese individuals. Plasma levels of adiponectin were negatively correlated with body mass index (BMI), whereas leptin, resistin and sTNFR1 concentrations positively correlated with BMI. CONCLUSION: Our results showed significant differences in circulating levels of the evaluated markers when lean, overweight and obese individuals were compared, suggesting that these biomarkers may change from lean to overweight and from overweight to obesity.

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita.

OBJECTIVE: To search for mutations in DAX1/NR0B1A gene in siblings to establish the molecular etiology of the adrenal hypoplasia congenita (AHC), a rare potentially life-threatening disorder. CASE REPORT: We describe two siblings who presented with salt-wasting syndrome in the newborn period and received hormonal replacement for primary adrenal insufficiency. A diagnostic hypothesis of AHC was suspected because the children maintained, during hormonal treatment, low plasma 17-OH progesterone (17-OHP) and androgens, despite high ACTH levels. RESULTS: DAX1 gene was studied by molecular analysis, which showed a mutation, confirming the diagnosis in the siblings and a heterozygous state in the mother. Direct sequencing of DAX1 revealed an insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution. CONCLUSION: A novel frameshift mutation of DAX1 gene, which established the molecular etiology of the AHC in the siblings, was identified. Obtaining a precise genetic diagnosis of this adrenal disorder, which, sometimes, cannot be confirmed only by clinical aspects, may have important implications for the long-term management of the disease.

Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita / Identificação de nova mutação no gene DAX1/NR0B1A em dois irmãos com forma clínica grave de hipoplasia adrenal congênita

OBJECTIVE: To search for mutations in DAX1/NR0B1A gene in siblings to establish the molecular etiology of the adrenal hypoplasia congenita (AHC), a rare potentially life-threatening disorder. CASE REPORT: We describe two siblings who presented with salt-wasting syndrome in the newborn period and received hormonal replacement for primary adrenal insufficiency. A diagnostic hypothesis of AHC was suspected because the children maintained, during hormonal treatment, low plasma 17-OH progesterone (17-OHP) and androgens, despite high ACTH levels. RESULTS: DAX1 gene was studied by molecular analysis, which showed a mutation, confirming the diagnosis in the siblings and a heterozygous state in the mother. Direct sequencing of DAX1 revealed an insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution. CONCLUSION: A novel frameshift mutation of DAX1 gene, which established the molecular etiology of the AHC in the siblings, was identified. Obtaining a precise genetic diagnosis of this adrenal disorder, which, sometimes, cannot be confirmed only by clinical aspects, may have important implications for the long-term management of the disease.

OBJETIVO: Pesquisar mutações no gene DAX1/NR0B1A em dois irmãos com suspeita de hipoplasia adrenal congênita (HAC), rara doença potencialmente fatal, para estabelecer sua etiologia molecular. RELATO DOS CASOS: São apresentados os relatos de dois irmãos com síndrome perdedora de sal no período neonatal que receberam terapia de reposição hormonal para insuficiência adrenal primária. O diagnóstico de HAC foi suspeitado porque as crianças mantiveram, durante o tratamento hormonal, níveis plasmáticos reduzidos de 17-OH-progesterona e andrógenos ao lado de níveis elevados de ACTH. RESULTADOS: A análise molecular do gene DAX1 mostrou a mutação, confirmando o diagnóstico nos irmãos e o estado heterozigoto da mãe. No sequenciamento direto do DAX1 foi encontrada inserção de uma adenina (c1382-1383 A ins), levando à substituição pMet461Asp. CONCLUSÃO: Uma nova mutação da fase de leitura no gene DAX1 foi identificada, estabelecendo a etiologia molecular da HAC nos dois irmãos. Um diagnóstico genético preciso deste distúrbio adrenal, frequentemente não confirmado apenas pelos aspectos clínicos, pode ter importantes implicações para o manuseio em longo prazo da doença.

Obesidade na infância e adolescência / Childhood and adolescent obesity

Atualmente, a obesidade é um dos problemas mais graves de saúde pública, tanto na vida adulta quanto na infância e na adolescência. Devido ao crescimento acentuado de sua prevalência nas últimas décadas, é considerada pela Organização Mundial da Saúde (OMS) uma epidemia global. Além disso, crianças obesas freqüentemente se tornam adolescentes e adultos obesos. A obesidade está fortemente associada à hipertensão arterial, dislipidemia, intolerância à glicose e marcadores de inflamação crônica, levando a um aumento de fatores de risco cardiovascular, piora da qualidade de vida, e aumento do índice de mortalidade no adulto. O IMC e a circunferência abdominal são as medidas de melhor custo-benefício para a estimativa da gordura corporal. A publicação de novas curvas de referência de IMC para idade e sexo, pela OMS, permitiu uma melhor avaliação e classificação nutricional da população brasileira. O tratamento das crianças e adolescentes obesos visa sobretudo à diminuição das co-morbidades associadas. É imprescindível a participação da família e de uma equipe multiprofissional no processo de reeducação alimentar e de hábitos de vida. A prevenção da obesidade, com a participação do governo e da sociedade, é talvez a medida mais eficaz no controle desse grave problema de saúde pública.

The obesity is currently one of the most severe problems in public health not only for adults, but also for children and adolescents. The World Health Organization (WHO) considers it a global epidemic, since there has been a huge increase in its prevalence in the past decades. Obese children frequently become obese adolescents and adults. Obesity is strongly associated to arterial hypertension, dislipidemia, glucose intolerance and chronic inflammatory markers, leading to an elevation in risk factors for cardiovascular diseases, worsening the quality of life and increasing adult mortality. BMI and abdominal circumference are the best cost effective tools for adiposity estimative. Since WHO has recently published new BMI curves for age and sex, there has been an improvement in the nutritional evaluation of the Brazilian population. The treatment of obese children and adolescents aims to decrease associated co-morbidities. It is strongly recommended that lifestyle interventions and behavioral modification involve families and a multiprofessional team. Preventive strategies for obesity, including government and community participation, may be the most effective measures to control this serious public health problem.

Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus: prevalence and risk factors.

UNLABELLED: Studies show great variation in prevalence of anti-thyroid antibodies in children with type 1 diabetes mellitus (DM1). There still is no consensus regarding screening of autoimmune thyroiditis in patients with DM1, especially in asymptomatic patients. AIM: To investigate the natural history and prevalence of autoimmune thyroiditis in pediatric patients with DM1 and relate it to potential risk factors. PATIENTS AND METHODS: This study is a historical cohort, through research of the records of 474 patients with DM1 from 9 months to 25 years of age, between 1980 and 2005 - 222 boys (46.8%) and 252 girls (53.2%), with an average duration of DM1 of 9.3 +/- 5.8 years. The sample was selected by having at least one measurement of TSH and anti-thyroid autoantibodies (antithyroperoxidase or anti-microssomal and/or anti-thyroglobulin) at any time from diagnosis of DM1. A questionnaire was answered in order to study the variables of interest for the study. Thyroid function disorder was defined as altered levels of TSH, with or without altered free T4 levels. RESULTS: A total of 383 patients (9 months to 25 years of age) were studied, 199 girls (52%) and 184 boys (48%). Sixty-four (16.7%) had positive anti-thyroid antibodies, predominantly girls (p = 0.064). Average duration of DM1 was 9.3 +/- 5.8 years and those above this age had a higher incidence of thyroiditis (p = 0.01). The prevalence of thyroid function disorder in patients with DM1 was 7.3% (n = 28), mostly with thyroiditis (32.8% vs 2.2% with negative antibodies, p < 0.001). There was a positive association between thyroiditis, as well as thyroid function disorders, and other autoimmune disorders (p < 0.001 and p < 0.02, respectively). CONCLUSIONS: Prevalence of thyroiditis in the diabetic population is considerably higher than in the general population. Annual laboratory determinations of anti-TPO antibodies and dosage of TSH should be part of routine tests in the diabetic population, especially in girls, children with DM1 for > 9 years, patients above 12 years of age, and those in whom DM1 is associated with another autoimmune disease. Anti-thyroid antibody positivity may indicate the necessity for thyroid function testing at shorter intervals.