10 research outputs found

    Metabolism of oral glucose in children born small for gestational age: evidence for an impaired whole body glucose oxidation.

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    Epidemiological studies indicate that intrauterine growth restriction confers an increased risk of developing type 2 diabetes mellitus in subsequent life. Several studies have further documented the presence of insulin resistance in young adults or adolescent children born small for gestational age. Since most studies addressed postpubertal individuals, and since puberty markedly affects energy metabolism, we evaluated the disposal of oral glucose in a group including mainly prepubertal and early pubertal children with intrauterine growth restriction and in healthy age- and weight-matched control children. All children had an evaluation of their body composition by skinfold thickness measurements. They were then studied in standardized conditions and received 4 consecutive hourly loads of 180 mg glucose/kg body weight to reach a near steady state. Energy expenditure and substrate oxidation were evaluated during the fourth hour by indirect calorimetry. Compared to both age- and weight-matched children, children born small for gestational age had lower stature. Their energy expenditure was not significantly decreased, but they had lower glucose oxidation rates. These results indicate that metabolic alterations are present early in children born small for gestational age, and are possibly related to alterations of body composition

    Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

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    Neonatal diabetes mellitus can be transient or permanent. The severe form of permanent neonatal diabetes mellitus can be associated with pancreas agenesis. Normal pancreas development is controlled by a cascade of transcription factors, where insulin promoter factor 1 (IPF1) plays a crucial role. Here, we describe two novel mutations in the IPF1 gene leading to pancreas agenesis. Direct sequence analysis of exons 1 and 2 of the IPF1 gene revealed two point mutations within the homeobox in exon 2. Genetic analysis of the parents showed that each mutation was inherited from one parent. Mutations localized in helices 1 and 2, respectively, of the homeodomain, decreased the protein half-life significantly, leading to intracellular IPF1 levels of 36% and 27% of wild-type levels. Both mutant forms of IPF1 were normally translocated to the nucleus, and their DNA binding activity on different known target promoters was similar to that of the wild-type protein. However, transcriptional activity of both mutant IPF1 proteins, alone or in combination with HNF3 beta/Foxa2, Pbx1, or the heterodimer E47-beta 2 was reduced, findings accounted for by decreased IPF1 steady state levels and not by impaired protein-protein interactions. We conclude that the IPF1 level is critical for human pancreas formation

    Natural history of growth hormone deficiency in a pediatric cohort.

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    BACKGROUND/AIMS: Controversies still exist regarding the evaluation of growth hormone deficiency (GHD) in childhood at the end of growth. The aim of this study was to describe the natural history of GHD in a pediatric cohort. METHODS: This is a retrospective study of a cohort of pediatric patients with GHD. Cases of acquired GHD were excluded. Univariate logistic regression was used to identify predictors of GHD persisting into adulthood. RESULTS: Among 63 identified patients, 47 (75%) had partial GHD at diagnosis, while 16 (25%) had complete GHD, including 5 with multiple pituitary hormone deficiencies. At final height, 50 patients underwent repeat stimulation testing; 28 (56%) recovered and 22 (44%) remained growth hormone (GH) deficient. Predictors of persisting GHD were: complete GHD at diagnosis (OR 10.1, 95% CI 2.4-42.1), pituitary stalk defect or ectopic pituitary gland on magnetic resonance imaging (OR 6.5, 95% CI 1.1-37.1), greater height gain during GH treatment (OR 1.8, 95% CI 1.0-3.3), and IGF-1 level <-2 standard deviation scores (SDS) following treatment cessation (OR 19.3, 95% CI 3.6-103.1). In the multivariate analysis, only IGF-1 level <-2 SDS (OR 13.3, 95% CI 2.3-77.3) and complete GHD (OR 6.3, 95% CI 1.2-32.8) were associated with the outcome. CONCLUSION: At final height, 56% of adolescents with GHD had recovered. Complete GHD at diagnosis, low IGF-1 levels following retesting, and pituitary malformation were strong predictors of persistence of GHD. © 2015 S. Karger AG, Basel

    Avaliação do estado nutricional de atletas de ginástica olímpica do Rio de Janeiro e São Paulo Nutritional status evaluation of olympic gymnastics athletes from Rio de Janeiro and São Paulo, Brazil

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    Com o objetivo de avaliar o estado nutricional de atletas de ginástica olímpica, do sexo feminino, foram estudadas 46 ginastas, de 11 a 14 anos, pertencentes a clubes e academias das cidades do Rio de Janeiro e São Paulo. O estudo antropométrico envolveu medidas de massa corporal, estatura, dobras cutâneas e perímetros. Observou-se diferença significativa para as dobras cutâneas tricipital, suprailíaca, da coxa e da panturrilha e para o percentual de gordura (p<0,05). Para o estudo dietético foram utilizados recordatório de 24 horas e registro alimentar de três dias. As ginastas apresentaram baixo consumo energético. A percentagem de carboidratos, 50% a 58%, e a ingestão protéica de 1,5 a 1,7 g/kg de peso mostraram-se baixa e adequada, respectivamente, frente ao proposto para atletas. O conteúdo de vitaminas foi satisfatório, com exceção do ácido fólico para as adolescentes cariocas. Os minerais julgados inadequados foram cálcio, magnésio, ferro e zinco. O estado nutricional de ferro não apresentou alterações.<br>The purpose of this study was to evaluate the nutritional status of 46 female olympic gymnastics athletes, aged 11 to 14 years old, attending private gymnastics clubs of the cities of Rio de Janeiro and São Paulo. The anthropometric assessment involved measurements of height, body mass, skinfold thickness and circumferences. Significant difference was observed for the triceps, suprailiac, mid thigh and medial calf skinfolds and for the percentage of body fat (p<0.05). For the assessment of dietary intake a 24-hour recall and a 3-day self-register were used. The energy consumption and the percentage of carbohydrates (50% to 58%) in the diet were low and the protein ingestion (1.5 to 1.7 g/kg of body weight) was appropriate, according to values proposed for athletes. Vitamin intake was satisfactory, except for folic acid of gymnasts from Rio de Janeiro. From the minerals assessed, the intake of calcium, magnesium, zinc and iron was inadequate. No clinical signs of iron deficiency were observed
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