Diabetes Knowledge, Behaviors, and Perceptions of Risk in Rural West Virginia Counties

Introduction: A little less than half of American adults have diabetes or pre-diabetes. In 2016, West Virginia (WV) had the highest percentage (15.2%) of adults with diagnosed diabetes in the U.S. Purpose: In partnership with the Health Sciences and Technology Academy (HSTA), a cross-sectional study was preformed to assess knowledge, behaviors, and perceptions of diabetes risk. Methods: Data was collected by trained HSTA students and teachers who lived in rural counties in WV. Information was assessed using validated surveys, and HbA1c was obtained by utilizing professional point-of-care (Bayer) kits. Results: Mean age and Body Mass Index (BMI) was 36.11±17.86 years and 27.80±6.09 kg/m2, respectively. More than half of the participants had a family history of diabetes (58.8%) and hypertension (60.2%), and a majority had elevated BMI (65.9%). However, only 29.2% rated their future risk for diabetes as moderate to high. Eighty percent (80%) had an inadequate amount of weekly exercise, and 36% had lower quality of diet. Overall, dietary quality and diabetes knowledge was associated with a low to moderate diabetes risk score; risk score positively correlated with higher HbA1c (r=0.439, P\u3c.001). Participants’ HbA1c, perceived future risk of diabetes and family history of diabetes emerged as significant predictors of diabetes risk in the regression model, controlling for health behavior and diabetes knowledge. Implications: HbA1c, perceived future risk of diabetes and family history of diabetes may be the best predictors of developing diabetes in the future and, therefore, are important to assess during community screening. Perception of diabetes risk is lower than actual diabetes risk in WV

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. Methods: Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays. Results: Neurodevelopmental delay with intellectual disability, muscular hypotonia and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, while non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD. Conclusion: This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated