Management of Acute Injury and Illness in Pediatric Athletes by Athletic Trainers: Compliance With Emergency Medicine and Athletic Trainer Evidence-Based Guidelines.

OBJECTIVE: This study aimed to determine athletic trainer compliance with emergency medicine and athletic training evidence-based guidelines for the on-the-field management of common pediatric sports-related injury and illness. METHODS: A questionnaire was distributed electronically to selected members of the National Athletic Trainer Association. The questionnaire included 10 clinical scenarios describing common sports-related injury/illness (closed head injury, cervical spine injury, blunt chest injury, blunt abdominal injury, ankle injury, knee injury with laceration, heat-related illness). On-the-field management decisions for each scenario were compared with selected emergency medicine and athletic training guidelines. RESULTS: Analysis was performed on 564 completed questionnaires (9% response rate). Responders were compliant with practice guidelines for both emergency medicine and athletic training except for blunt chest trauma with tachycardia, closed head injury with loss of consciousness, closed head injury with repetitive speech, closed head injury with a fall higher than 5 feet, cervical spine injury with paresthesias, and heat-related illness with persistent symptoms. Discrepancies between emergency medicine and athletic training guidelines included closed head injury with repetitive speech, closed head injury and height of fall, closed head injury and unequal pupils, and cervical spine injury with neck pain and paresthesias. CONCLUSIONS: Based on our sample, athletic trainers were compliant with many guidelines supported by both emergency medicine and athletic training. We identified several deficiencies in the availability of evidence-based guidelines and discrepancies between these guidelines and athletic trainer responses. To provide optimal care to pediatric athletes who sustain injury or illness, emergency medicine and athletic training organizations should collaborate to improve these discrepancies.

Targeted Mutational Analysis of Cortisol-Producing Adenomas.

CONTEXT: Somatic gene mutations have been identified in only about half of cortisol-producing adenomas (CPAs). Affected genes include PRKACA, GNAS, PRKAR1A, and CTNNB1. OBJECTIVE: This work aims to expand our understanding of the prevalence of somatic mutations in CPAs from patients with overt Cushing syndrome (OCS) and "subclinical" mild autonomous cortisol excess (MACE), with an immunohistochemistry (IHC)‒guided targeted amplicon sequencing approach using formalin-fixed paraffin-embedded (FFPE) tissue. METHODS: We analyzed FFPE adrenal tissue from 77 patients (n = 12 men, 65 women) with either OCS (n = 32) or MACE (n = 45). Using IHC for 17α-hydroxylase/17,20-lyase (CYP17A1) and 3ß-hydroxysteroid dehydrogenase (HSD3B2), we identified 78 CPAs (32 OCS CPAs and 46 MACE CPAs). Genomic DNA was isolated from the FFPE CPAs and subjected to targeted amplicon sequencing for identification of somatic mutations. RESULTS: Somatic mutations were identified in 71.8% (56/78) of the CPAs. While PRKACA was the most frequently mutated gene in OCS CPAs (14/32, 43.8%), somatic genetic aberrations in CTNNB1 occurred in 56.5% (26/46) of the MACE CPAs. Most GNAS mutations were observed in MACE CPAs (5/7, 71.4%). No mutations were observed in PRKAR1A. In addition to the known mutations, we identified one previously unreported mutation in PRKACA. Two patients with MACE harbored 2 adjacent tumors within the same adrenal gland - one patient had 2 CPAs, and the other patient had a CPA and an aldosterone-producing adenoma (identified by IHC for aldosterone synthase). CONCLUSION: A comprehensive FFPE IHC-guided gene-targeted sequencing approach identified somatic mutations in 71.8% of the CPAs. OCS CPAs demonstrated a distinct mutation profile compared to MACE CPAs.