REM Sleep Behavior Disorder Diagnostic Code Accuracy and Implications in the Real-World Setting.

Background And Objectives: Isolated REM sleep behavior disorder (iRBD) carries increased risk of neurodegenerative parkinsonian disorder or dementia (NPD) but is difficult to accurately screen for in the community. Health care data offer the opportunity to identify large numbers of iRBD cases among outpatients. We aimed to determine the positive predictive value (PPV) of an RBD (ICD) code for actual iRBD based on manual review of the electronic health record (EHR), examine risk of NPD diagnosis, and explore whether a statistical model developed using selected EHR data can identify individuals with the RBD ICD code who have high probability for actual iRBD.

A Pathogenic Germline BRCA1 Variant in a Patient With Cellular Congenital Mesoblastic Nephroma: A Case Report.

Benign cystic tumors of the kidney are well-described in infants and young children. Here we report an infant diagnosed with a cellular congenital mesoblastic nephroma (CMN) with a germline pathogenic variant in BRCA1. This finding is novel because BRCA1 is an adult-onset cancer predisposition gene causing breast, ovarian, pancreatic, and prostate cancers.