Objectives We evaluated a low-cost strategy for schools to improve the convenience and appeal of drinking water. Methods We conducted a group-randomized, controlled trial in 10 Boston, Massachusetts, schools in April through June 2013 to test a cafeteria-based intervention. Signage promoting water and disposable cups were installed near water sources. Mixed linear regression models adjusting for clustering evaluated the intervention impact on average student water consumption over 359 lunch periods. Results The percentage of students in intervention schools observed drinking water during lunch nearly doubled from baseline to follow-up compared with controls (+9.4%; P < .001). The intervention was associated with a 0.58-ounce increase in water intake across all students (P < .001). Without cups, children were observed drinking 2.4 (SE = 0.08) ounces of water from fountains; with cups, 5.2 (SE = 0.2) ounces. The percentage of intervention students observed with sugar-sweetened beverages declined (−3.3%; P < .005). Conclusions The current default of providing water through drinking fountains in cafeterias results in low water consumption. This study shows that an inexpensive intervention to improve drinking water’s convenience by providing cups can increase student water consumption.

Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS. Clinical chromosomal microarray (CMA) testing and high-throughput BBS gene panel sequencing detected a homozygous 7p14.3 deletion of exons 1–4 of BBS9 that was encompassed by a 17.5 Mb region of homozygosity at chromosome 7p14.2–p21.1. The precise breakpoints of the deletion were delineated to a 72.8 kb region in the proband and carrier parents by third-generation long-read single molecule real-time (SMRT) sequencing (Pacific Biosciences), which suggested non-homologous end joining as a likely mechanism of formation. Long-read SMRT sequencing of the deletion breakpoints also determined that the aberration included the neighboring RP9 gene implicated in retinitis pigmentosa; however, the clinical significance of this was considered uncertain given the paucity of reported cases with unambiguous RP9 mutations. Taken together, our study characterized a BBS9 deletion, and the identification of this shared haplotype in the parents suggests that this pathogenic aberration may be a BBS founder mutation in the Guyanese population. Importantly, this informative case also highlights the utility of long-read SMRT sequencing to map nucleotide breakpoints of clinically relevant structural variants.

This study identified correlates of attendance to a community-based exercise program in an African American church congregation. After medical clearance, 48 participants completed measures of social support, health-related quality of life, depression, exercise self-efficacy, and exercise motivation and then participated in an exercise program for 6 months (attendance rate = 27%). Age, a sense of affiliation as a motivator to exercise, and weekly caloric expenditure derived from yard work were positively associated with program attendance, and full- or part-time employment was negatively associated with attendance. The authors concluded that exercise adherence is a complicated phenomenon that is influenced by a variety of environmental, personal, and social factors. Social factors, in particular, may be important in promoting adherence to an exercise program in African Americans.

IntroductionIntake of sugar-sweetened beverages (SSBs) is associated with negative health effects. Access to healthy beverages may be promoted by policies such as the Healthy Beverage Executive Order (HBEO) established by former Boston mayor Thomas M. Menino, which directed city departments to eliminate the sale of SSBs on city property. Implementation consisted of “traffic-light signage” and educational materials at point of purchase. This study evaluates the impact of the HBEO on changes in beverage availability.MethodsResearchers collected data on price, brand, and size of beverages for sale in spring 2011 (899 beverage slots) and for sale in spring 2013, two years after HBEO implementation (836 beverage slots) at access points (n = 31) at city agency locations in Boston. Nutrient data, including calories and sugar content, from manufacturer websites were used to determine HBEO beverage traffic-light classification category. We used paired t tests to examine change in average calories and sugar content of beverages and the proportion of beverages by traffic-light classification at access points before and after HBEO implementation.ResultsAverage beverage sugar grams and calories at access points decreased (sugar, −13.1 g; calories, −48.6 kcal; p<.001) following the implementation of the HBEO. The average proportion of high-sugar (“red”) beverages available per access point declined (−27.8%, p<.001). Beverage prices did not change over time. City agencies were significantly more likely to sell only low-sugar beverages after the HBEO was implemented (OR = 4.88; 95% CI, 1.49–16.0).DiscussionPolicies such as the HBEO can promote community-wide changes that make healthier beverage options more accessible on city-owned properties.

Background: Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2.Case Report: We describe a fifth patient with PKD, features of Asperger's syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomic hybridization (aCGH) detected a 533.9-kb deletion on chromosome 16, encompassing over 20 genes and transcripts.Discussion: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.