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Background and objectives Nephrolithiasis is a prevalent condition that affects 10%–15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied. Design, setting, participants, & measurements To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals n =123) or isolated nephrocalcinosis ( n =20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation. Results We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent. Conclusions We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis.

To investigate elementary teachers' behavior toward allowing and using foods with low nutritional value in the classroom.A survey guided by the Theory of Planned Behavior was administered in fall, 2012 in 10 schools.Elementary public school teachers in grades pre-kindergarten through 6.Teachers' behavior and beliefs regarding allowing and using foods with low nutritional value in the classroom and Theory of Planned Behavior determinants.Pairwise correlation coefficients and multivariate linear regression to assess relationships between theory determinants and descriptive statistics.All 3 determinants, Attitude Toward the Behavior (t = 4.04; P.01), Subjective Norms (t = 3.78; P.01), and Perceived Behavioral Control (t = 5.19; p.01), were statistically significant predictors of behavior. The majority of teachers (94%) allowed foods of low nutritional value for celebrations at least some of the time, and 75% stated that they had control over what foods they allow.Discussions among teachers and school health professionals should ensue to improve nutritional content of foods allowed in classrooms. School policies can be developed and evaluated for effectiveness to have a positive impact on childhood obesity and school nutrition environments.