A novel MC4R mutation associated with childhood-onset obesity: A case report

The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight. MC4R gene mutations are associated with early-onset severe obesity. Most patients are heterozygotes, with some reports of homozygotes and compound het-erozygotes. The authors report a case involving an eight-year-old girl with progressive weight gain from infancy, body mass index 44 kg/m: (\u3e97th percentile), hyperphagia, hvperinsulinemia and increased linear growth. There was no phenotvpe of morbid obesity in the parents or sibling. Coding regions and intron-exon boundaries of the genes encoding leptin, Ieptin receptor, pro-opiomelanocortin and MC4R were analyzed. Two heterozygous coding mutations in the MCR4 gene (S94N and C293R) were detected, of which the second has not been previously reported. The mutations were on opposite chromosomes, confirming compound heterozygosity. The molecular findings and clinical features associated with this novel MC4R mutation are described. The authors emphasize that rare mutations can be found in some patients with severe childhood-onset obesity

Impact of the Balanced School Day on Glycemic Control in Children with Type 1 Diabetes

Objective The balanced school day (BSD) is an alternative elementary school schedule whereby children have 2 20-minute eating periods instead of 1 20-minute lunch, as is found in the traditional schedule (TS). We assessed the glycated hemoglobin (A1C) levels of children with type 1 diabetes in the TS vs. the BSD because 2 eating periods have the potential to impact blood glucose control. Methods A1C levels representative of the summer months (SumA1C) and A1C levels occurring at least 3 months after the start of the school year (SchA1C) were obtained retrospectively. A parental survey of perceptions of lunch planning, activity levels and diabetes management at school was also completed. Results Our sample included 97 students (TS=42, BSD=55). The mean age ± SD was 10.9±2.6 and 10.1±2.8 years in the TS and BSD, respectively (p=0.12). Sex distribution was not statistically different; 54% were female in TS vs. 36% in BSD; p=0.08. SumA1C was similar in the 2 groups (TS: 8.3±1.1% vs. BSD: 8.0±0.8%; p=0.08). There was a significant within-group increase from SumA1C to SchA1C in the BSD group only (p=0.001), with mean A1C values increasing from 8.0%±0.8% to 8.5%±1.0% in the BSD group compared to no significant increase in the TS group. Parental perceptions of lunch planning, physical activity and diabetes management were similar, regardless of school schedule. Conclusions Children with type 1 diabetes in the BSD appear to have worse diabetes control during the school year compared to the summer, which is not evident in children in the TS. Additional school supports may assist students in the BSD