Uniparental disomy in a population of 32,067 clinical exome trios.

Purpose: Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.

Methods: We analyzed 32,067 ES trios referred for diagnostic testing to create a profile of UPD events and their disease associations.

PhotoVoice is a feasible method of program evaluation at a center serving adults with autism.

The purpose of this small-scale pilot study, was to assess the feasibility of PhotoVoice as a participatory method of program evaluation for the Hussman Center for Adults with Autism (HCAA), a community-based center in greater Baltimore, MD. PhotoVoice is a data collection method that uses photography to give informants, in this case three adults with autism spectrum disorder (ASD), the opportunity to voice their opinions, concerns, and ideas for programs they participate in. This participatory approach serves to empower individuals and communities, and increases the likelihood that the generated information will be used and recommendations will be implemented.

Impact of high-dose antioxidants on outcomes in acutely injured patients.

Background: The profound oxidative stress that occurs following injury results in significant depletion of many endogenous antioxidants (vitamin C, E, selenium). Increasing evidence suggests antioxidant supplementation reduces infectious complications and organ dysfunction following injury and hemorrhagic shock. The purpose of this study was to evaluate the impact of high-dose antioxidant administration on the mortality rate of acutely injured patients.