Fetal Hemoglobin Modulators May Be Associated With Symptomology of Football Players with Sickle Cell Trait.

OBJECTIVES: This study investigates whether genetic modifiers previously shown to influence adult fetal hemoglobin (HbF) levels and glucose-6-phosphate dehydrogenase deficiency were associated with variable symptomology in a small sample of collegiate football players with sickle cell trait. METHODS: Survey data on self-assessed symptoms and genotype data from five single nucleotide polymorphisms (SNPs) related to HbF production and two SNPs that cause glucose-6-phosphate dehydrogenase deficiency were collected from current and former college football players. RESULTS: In this sample, SNPs found within the ß-globin gene cluster were found to be associated with a previous diagnosis of exertional sickling and experience of extreme heat during and after training. rs10189857 in the BCL11A gene was associated with body mass index and weight and with experiencing extreme thirst during and after training. No significant correlations were found between the other SNPs and symptoms within this sample. CONCLUSIONS: These findings show that genetic variation known to affect sickle cell disease symptomology may partly explain why some football players with sickle cell trait experience adverse clinical outcomes during periods of extreme physical exertion and others do not.

Utility of point-of-care musculoskeletal ultrasound in the evaluation of emergency department musculoskeletal pathology.

BACKGROUND: To evaluate the utilization of point-of-care ultrasound (POCUS) for the assessment of emergency department (ED) patients with musculoskeletal symptoms and the impact of musculoskeletal POCUS on medical decision-making and patient management in the ED. METHODS: This was a retrospective review of ED patients presenting with musculoskeletal symptoms who received a POCUS over a 3.5-year period. An ED POCUS database was reviewed for musculoskeletal POCUS examinations used for medical decision-making. Electronic medical records were then reviewed for demographic characteristics, history, physical examination findings, ED course, additional imaging studies, and impact of musculoskeletal POCUS on patient management in ED. RESULTS: A total of 264 subjects (92 females, 172 males) and 292 musculoskeletal POCUS examinations were included in the final analysis. Most common symptomatic sites were knee (31.8%) and ankle (16.3%). Joint effusion was the most common finding on musculoskeletal POCUS, noted in 33.7% of the patients, and subcutaneous edema/cobblestoning was found in 10.2% of the patients. Muscle or tendon rupture was found in 2.3% of the patients, and 1.9% of the patients had joint dislocation. Bursitis or bursa fluid was found in 3.4% of patients, and tendonitis/tendinopathy was found in 2.3%. Twenty percent of them were ultrasound-guided musculoskeletal procedures, and most of them (73.3%) were arthrocentesis. Of the included studies, all except three either changed or helped guide patient management as documented in the patients' medical records. CONCLUSION: Our study findings illustrate the utility of POCUS in the evaluation of a variety of musculoskeletal pathologies in the ED.