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RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in the RECQL4 gene. These patients have significant skeletal developmental abnormalities including radial ray, limb and craniofacial defects. To investigate the role of Recql4 in the developing skeletal system, we generated Recql4 conditional knockout mice targeting the skeletal lineage. Inactivation of Recql4 using the Prx1-Cre transgene led to limb abnormalities and craniosynostosis mimicking the major bone findings in human RECQL4 patients. These Prx1-Cre(+) ;Recql4(fl/fl) mice as well as Col2a1-Cre(+) ;Recql4(fl/fl) mice exhibited growth plate defects and an increased p53 response in affected tissues. Inactivation of Trp53 in these Recql4 mutants resulted in genetic rescue of the skeletal phenotypes, indicating an in vivo interaction between Recql4 and Trp53, and p53 activation as an underlying mechanism for the developmental bone abnormalities in RECQL4 disorders. Our findings show that RECQL4 is critical for skeletal development by modulating p53 activity in vivo.

Objectives: The emergency medicine (EM) job market is increasingly focused on incentive-based reimbursement, which is largely based on relative value units (RVUs) and is directly related to documentation of patient care. Previous studies have shown a need to improve resident education in documentation. The authors created a focused educational intervention on billing and documentation practices to meet this identified need. The hypothesis of this study was that this educational intervention would result in an increase in RVUs generated by EM resident physicians and the average amount billed per patient. Methods: The authors used a quasi-experimental study design. An educational intervention included a 1-hour lecture on documentation and billing, biweekly newsletters, and case-specific feedback from the billing department for EM resident physicians. RVUs and charges generated per patient were recorded for all second- and third-year resident physicians for a 3-month period prior to the educational intervention and for a 3-month period following the intervention. Pre- and postintervention data were compared using Student’s t-test and repeated-measures analysis of variance, as appropriate. Results: The evaluation and management (E/M) chart levels billed during each phase of the study were significantly different (p