Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.

Background: Somatic mutations in the ubiquitin-specific peptidase 8 (USP8) gene are common in corticotropinomas of children with Cushing disease (CD). We report a unique patient with a germline USP8 mutation who presented with CD and a constellation of other findings that constitute an intriguing genetic syndrome.

Case Description: We describe a 16-year-old female with CD, developmental delay, dysmorphic features, ichthyosiform hyperkeratosis, chronic lung disease, chronic kidney disease, hyperglycemia, dilated cardiomyopathy with congestive heart failure, and previous history of hyperinsulinism and partial GH deficiency.

Aortic pulse wave velocity in children with Cushing syndrome: A window into a marker of early cardiovascular disease.

Objective: To investigate early signs of cardiovascular arterial remodelling in paediatric patients with Cushing syndrome (CS) in comparison with normative values from healthy children.

Study Design: The metrics used to assess cardiac health were from thoracic aorta and carotid MRI. Scans were performed on 18 children with CS (mean: 12.

Facilitating the Timely Discharge of Well Newborns by Using Quality Improvement Methods.

Background And Objectives: Discharges are a key driver of hospital throughput. Our pediatric hospitalist team sought to improve newborn nursery throughput by increasing the percentage of newborns on our service with a discharge order by 11 am. We hypothesized that implementing a discharge checklist would result in earlier discharge times for newborns who met discharge criteria.