Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation.

Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis. A diagnosis of diffuse ganglioneuromatosis is relevant for patient care because, unlike sporadic polypoid ganglioneuromas or ganglioneuromatous polyposis, most are syndromic. Diffuse ganglioneuromatosis is commonly associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2b, and Cowden Syndrome, one of the phenotypes of PTEN hamartoma tumor syndrome. The patient had the noted gastric diffuse ganglioneuromatosis, as well as other major and minor criteria for Cowden syndrome. Genetic testing revealed a novel frameshift mutation in the PTEN gene in the patient, her father, paternal aunt, and the aunt's son who is a paternal first cousin of the patient.

The Validity and reliability of the Comprehensive Home Environment Survey (CHES).

Few comprehensive measures exist to assess contributors to childhood obesity within the home, specifically among low-income populations. The current study describes the modification and psychometric testing of the Comprehensive Home Environment Survey (CHES), an inclusive measure of the home food, physical activity, and media environment related to childhood obesity. The items were tested for content relevance by an expert panel and piloted in the priority population. The CHES was administered to low-income parents of children 5 to 17 years (N = 150), including a subsample of parents a second time and additional caregivers to establish test-retest and interrater reliabilities. Children older than 9 years (n = 95), as well as parents (N = 150) completed concurrent assessments of diet and physical activity behaviors (predictive validity). Analyses and item trimming resulted in 18 subscales and a total score, which displayed adequate internal consistency (α = .74-.92) and high test-retest reliability (r ≥ .73, ps < .01) and interrater reliability (r ≥ .42, ps < .01). The CHES score and a validated screener for the home environment were correlated (r = .37, p < .01; concurrent validity). CHES subscales were significantly correlated with behavioral measures (r = -.20-.55, p < .05; predictive validity). The CHES shows promise as a valid/reliable assessment of the home environment related to childhood obesity, including healthy diet and physical activity.

Smart choices for healthy families: a pilot study for the treatment of childhood obesity in low-income families.

This pre-post study used a mixed-methods approach to examine the impact of a family-based weight management program among a low-income population. Smart Choices for Healthy Families was developed through an integrated research-practice partnership and piloted with 26 children and parents (50% boys; mean age = 10.5 years; 54% Black) who were referred by their pediatrician. Smart Choices included six biweekly group sessions and six automated telephone-counseling calls over 3 months. Children displayed reduced body mass index z-scores (p < .05), increased lean muscle mass (p < .001), and increased quality of life (p < .0001). Follow-up interviews indicated that physicians valued the lay leaders' ability to provide lifestyle education, whereas lay leaders extended their reach to more community members. Parents wanted to become positive role models and found that the calls maintained focus on goals. Smart Choices shows promise to initiate weight management for children in low-income families.

Measures of the home environment related to childhood obesity: a systematic review.

OBJECTIVE: Due to a proliferation of measures for different components of the home environment related to childhood obesity, the purpose of the present systematic review was to examine these tools and the degree to which they can validly and reliably assess the home environment. DESIGN: Relevant manuscripts published between 1998 and 2010 were obtained through electronic database searches and manual searches of reference lists. Manuscripts were included if the researchers reported on a measure of the home environment related to child eating and physical activity (PA) and childhood obesity and reported on at least one psychometric property. RESULTS: Of the forty papers reviewed, 48 % discussed some aspect of parenting specific to food. Fifty-per cent of the manuscripts measured food availability/accessibility, 18 % measured PA availability/accessibility, 20 % measured media availability/accessibility, 30 % focused on feeding style, 23 % focused on parenting related to PA and 20 % focused on parenting related to screen time. CONCLUSIONS: Many researchers chose to design new measures for their studies but often the items employed were brief and there was a lack of transparency in the psychometric properties. Many of the current measures of the home food and PA environment focus on one or two constructs; more comprehensive measures as well as short screeners guided by theoretical models are necessary to capture influences in the home on food and PA behaviours of children. Finally, the current measures of the home environment do not necessarily translate to specific sub-populations. Recommendations were made for future validation of measures in terms of appropriate psychometric testing.