Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.

Recommendations for the optimization of student led free vision screening programs.

Purpose: To report the summary characteristics of operational models associated with Student Led Free Vision Screening Programs (SLFVSP) and to identify opportunities for program optimization.

Methods: An 81-question mixed methods survey was distributed to SLFVSP leaders nationwide and Medical Student Educators within the American University Ophthalmology Professors (AUPO) Association. Survey responses were analyzed using Mann Whitney U and Fisher's Exact tests.

Impact of Reach Height on Estimated Rotator Cuff Compression Risk in Manual Wheelchair Users With Spinal Cord Injury.

Reaching is a common daily activity requiring a range of humeral elevation that contributes to rotator cuff compression. The purpose of this study was to estimate supraspinatus and infraspinatus tendon compression risk relative to the acromion and coracoacromial ligament during reaching by manual wheelchair users with spinal cord injury. A cross-sectional design was used to evaluate 8 participants (7 males, median [range] age 36 y [23-61]).