Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.

The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities.

Variations in Octreotide Dosing in Published Reports of Sulfonylurea Toxicity: A Systematic Review, 1988-Present.

Background: Octreotide is commonly used to treat hypoglycemia due to sulfonylurea toxicity, but optimal dosing for this indication is not well defined.

Methods: We performed a systematic review to identify cases in the medical literature of octreotide use for sulfonylurea poisoning. Literature published on octreotide and sulfonylureas between octreotide's FDA approval on 10/21/1988 and 8/15/2024 was reviewed.

Vaccination Against Influenza and Pneumococcus During Pretravel Health Consultations in the United States: Interventions and Missed Opportunities.

Background: Infections by and influenza viruses are vaccine-preventable diseases causing great morbidity and mortality. We evaluated pneumococcal and influenza vaccination practices during pre-international travel health consultations.

Methods: We evaluated data on pretravel visits over a 10-year period (1 July 2012 through 31 June 2022) from 31 sites in Global TravEpiNet (GTEN), a consortium of US healthcare facilities providing pretravel health consultations.

Work-related Fatigue: Relationship between Perceived and Performance Fatigability in Career Firefighters.

Objective: The purpose of this study was to 1) examine the relationship between perceived work-related fatigue and performance fatigability, and 2) assess the impact of percent body fat (%BF) on perceived fatigue constructs in career firefighters.

Methods: Thirty-nine career firefighters completed body composition testing, the Occupational Fatigue Exhaustion Recovery (OFER15) scale assessing three subscales of work-related fatigue (acute fatigue, chronic fatigue, and inter-shift recovery), and maximal leg extensor isometric strength testing prior to and following an isotonic fatiguing protocol.

Results: Performance fatigability was not associated with any of the OFER15 perceived work-related fatigue variables ( P ≥ 0.