Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache (ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused by either the Thr237Met or Tyr254Cys variant in the protein kinase ALPK1. Here, we identify a family in which ROSAH syndrome is caused by a novel variant in which Ser277 is changed to Phe. All six patients examined display ocular inflammation and optic nerve elevation, four have retinal degeneration and four are registered blind.

Effect of a best practice advisory activated "kit in hand" naloxone distribution program in the emergency department.

Purpose: We implemented a "kit in hand" naloxone distribution program at emergency department (ED) discharge activated by electronic health record Best Practice Advisory (BPA). The purpose of this study was to evaluate naloxone kit distribution before and after implementation.

Methods: Retrospective observational study of adult ED patients with unintentional opioid overdose conducted over a six-month period.

Factors Associated With Child and Youth Mental Health Readmissions From a US National Database.

Objective: To describe and identify factors associated with mental health (MH) readmission rates for youth ages 5 to 17 years discharged between January 2019 and November 2019.

Method: This retrospective, cross-sectional analysis using the 2019 Nationwide Readmissions Database identified hospitalizations for patients with a primary diagnosis of an MH condition using the Clinical Classification Software groupings, which are based on codes. Various patient characteristics including comorbidities were included in univariate and multivariate analysis to study their association with psychiatric readmission.

Development and Validation of a Simulation Model for Ureteral Stent Placement.

Importance: Currently, there are no validated training models for cystoscopy with ureteral stent placement.

Objectives: The objectives of this study were to develop and validate a novel endoscopic simulation model for training in ureteral stent placement.

Study Design: A low-cost, low-fidelity training model was developed to simulate ureteral stent placement.