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Background: The accurate measurement of food intake in children is important for assessing nutritional status., Objective: We sought to both compare measurements of energy intake (EI) from diet records and of total energy expenditure (TEE) by the doubly labeled water (DLW) method and to investigate misreporting of EI., Design: Forty-seven children (22 boys and 25 girls) aged 7.4 +/- 0.8 y ( +/- SD) were recruited from 25 schools in western Sydney. TEE was measured by DLW over 10 d and EI by use of 3-d food records. Misreporting was defined as [(EI - TEE)/TEE] x 100%., Results: Girls had a higher (P = 0.02) percentage of body fat (28.2 +/- 7.0%) than did boys (22.9 +/- 8.0%); otherwise there were no differences among sex. Although mean (+/-SD) values for EI (7514 +/- 1260 kJ/d) and TEE (7396 +/- 1281 kJ/d) were not significantly different, there was no significant correlation between EI and TEE. EI and TEE were 9% and 11% lower, respectively, than current World Health Organization recommendations for EI. The relative bias (mean difference, EI - TEE) was low at 118 kJ/d, but the limits of agreement (bias +/- 2 SD of the difference) were wide at 118 +/- 3345 kJ/d. Although the mean percentage of misreporting was low (4 +/- 23%), the high SD indicates large intraindividual differences between EI and TEE. The most significant predictor of misreporting was dietary fat intake (r(2) = 0.45, P < 0.0001). Misreporting was not associated with sex or body composition., Conclusions: In this age group, reported EI is not representative of TEE at the individual level. However, at the population level, 3-d food records may be used for surveys of EI by 6-9-y-old children.

Background: The recent worldwide increase in the prevalence of childhood obesity may be due in part to a decrease in children's physical activity levels., Objective: The current study of children in the years just before puberty aimed to 1) measure total energy expenditure (TEE) by use of the doubly labeled water (DLW) method, 2) determine the proportion of TEE related to physical activity, 3) investigate the relations between measures of physical activity and body fatness, and 4) investigate possible sex differences in these relations., Design: The DLW technique was used to measure TEE over 10 d in 106 healthy children (52 boys) aged 7.8 +/- 0.9 y (x +/- SD). Fat-free mass, and hence fat mass, was derived from the (18)O dilution space. Resting energy expenditure (REE) was calculated with use of the Schofield equations. Physical activity level was calculated as TEE/REE., Results: Mean TEE in both boys (7871 +/- 1135 kJ/d) and girls (7512 +/- 1195 kJ/d) was significantly different (P < 0.0001) from FAO/WHO/UNU recommendations (13% and 9% lower, respectively). There was no significant difference in physical activity level between boys (1.69 +/- 0.22) and girls (1.71 +/- 0.23). In boys but not girls, physical activity level was inversely correlated with BMI (r = -0.37, P < 0.01), fat mass (r = -0.46, P < 0.005), and percentage of body fat (r = -0.50, P < 0.0001)., Conclusions: In boys but not girls, percentage of body fat is inversely associated with physical activity level. Physical activity is one factor contributing to body fatness in boys, but additional factors may influence the size of the fat stores in girls.

Disorders of the CYP21 gene, which is located within the major histocompatibility complex on the short arm of chromosome 6, are the leading causes of congenital adrenal hyperplasia (CAH). The coding gene and a highly homologous pseudogene are tandemly arranged with the two genes for the fourth component of complement (C4A and C4B). To analyse the prevalence rates of mutations of the CYP21 genes and the segregation of the CYP21 genes with their corresponding human leucocyte antigen (HLA)-haplotypes, 21 families with one or two children with the severe form of 21-hydroxylase deficiency were studied. Mutations of the CYP21 gene on their corresponding HLA-haplotype were detected by hybridisation of polymerase chain reaction (PCR)-amplified genomic DNA with sequence-specific oligonucleotides and solid phase direct sequencing. Our study has shown the following. (1) A single basepair mutation (A-->G or C-->G) within the second intron is the most frequent mutation leading to impaired 21-hydroxylase activity. This mutation is only detected in HLA-haplotypes associated with the salt-wasting form of CAH. (2) A large deletion of part or all of the CYP21 gene is associated with the HLA-haplotype A3, BW47, C6, DR7, DR53, DQ2 but is also observed in other HLA-haplotypes and can be detected by a simple rapid PCR restriction fragment length polymorphism method. (3) Two alleles of the coding CYP21 gene differing in a leucine codon within the first exon, (formerly described as a mutation associated with 21-hydroxylase deficiency) have been found with an equal distribution in patients with 21-hydroxylase deficiency, non-disease HLA-haplotypes and the local healthy controls.

The HLA-D region antigens DR5 (w11,w12), DRw6 (w13,w14), DRw8, DRw52, and DQw1 have previously been shown to be increased in frequency in subsets of patients with juvenile arthritis. Since the HLA-D region is complex (composed of at least 3 subregions encoding multiple molecules, each in turn presenting multiple alloantigenic epitopes), we sought to clarify whether one strongly associated factor might explain the previous findings. To search for the pertinent HLA-D region stimulatory epitopes, alloreactive T cells were primed against DR5 and DRw6 haplotypes and cloned by limiting dilution. Three T cell clones and 1 alloantiserum met the criteria for significant association with juvenile arthritis on patient testing, including DR5, DRw6, and DRw8 haplotypes. Monoclonal antibody blocking revealed that all 4 recognized epitopes on DR subregion products. For 2 of the clones, the relative risks for JA (10.5 and 9.4) were higher than the risks with any other previously described typing reagents.