Planning for Action: The Impact of an Asthma Action Plan Decision Support Tool Integrated into an Electronic Health Record (EHR) at a Large Health Care System.

Introduction: Asthma is a chronic airway disease that can be difficult to manage, resulting in poor outcomes and high costs. Asthma action plans assist patients with self-management, but provider compliance with this recommendation is limited in part because of guideline complexity. This project aimed to embed an electronic asthma action plan decision support tool (eAAP) into the medical record to streamline evidence-based guidelines for providers at the point of care, create individualized patient handouts, and evaluate effects on disease outcomes.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder.