Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.

Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as ELANE, HAX1, and SBDS. SRP54 pathogenic variants are associated with SCN and Shwachman-Diamond-like syndrome. Thirty-eight patients with SRP54-related SCN are reported in the literature.

Concordance of Identified Cases of Pediatric HA-VTE with American College of Physicians and Cincinnati Children's Hospital HA-VTE Prophylaxis Guidelines Over a 10-Year Period.

: Our aim is to (1) ascertain the proportion of pediatric patients at a tertiary hospital in Western Massachusetts over a 10-year period with hospital-acquired venous thromboembolism (VTE) of particular characteristics and (2) determine whether ACCP or Cincinnati Children's guidelines would have recommended VTE prophylaxis in these patients. : Urban teaching hospital in the United States. : Data from 98 477 pediatric hospital admissions (roughly 10 000 admission per year) from 2008 to 2017 were reviewed.

Venous Thromboembolism in a Transgender Adolescent on Testosterone Therapy: A Case Report and Literature Review.

The incidence of pediatric venous thromboembolism (VTE) has been increasing in the past few decades and can be associated with significant mortality and morbidity. There are known risk factors associated with VTE, including estrogen therapy. However, the relationship between testosterone and VTE remains unclear.