Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in polymerase η, which is responsible for replication of UV-damaged DNA to produce corrected daughter strands. We present the varied clinical courses of three African-American female patients with XP. Additionally, we present a review of the literature that focuses on the various clinical manifestations as well as the genetic and molecular mechanisms underlying this disease.
Introduction: Financial literacy is the individual ability and skill to make informed decisions in the management of resources within the financial marketplace to yield a lifetime of financial well-being. Residents across several subspecialties have demonstrated low levels of financial literacy, and it is thought that more financial education is needed during residency training. The purpose of this study is to perform a comprehensive evaluation on financial literacy and financial attitudes of orthopaedic surgery residents. The authors hypothesize that orthopaedic residents will have low levels of financial literacy and financial satisfaction. Methods: A 46-question anonymous survey was administered through COERG (Collaborative Orthopaedic Educational Research Group) to 1028 orthopaedic surgery residents of all postgraduate year at 43 programs with broad national distribution. Resident demographics and survey responses regarding knowledge of finance and investment topics, application of financial principles, and personal financial status were compared. Results: The survey response rate was 48% (494/1028). The average financial literacy score of all orthopaedic resident participants was 60.9% (616.5%). A total of 35.5% of orthopaedic residents were satisfied with their current financial situation. Saving for retirement and lower loan burdens correlated with greater financial satisfaction in financial situation. Scores were higher in orthopaedic residents with greater childhood annual household income, no credit card debt, higher levels of parent education, and active retirement savings plans. Conclusions: Orthopaedic residents show significant deficits in overall financial and investment knowledge combined with a dissatisfaction with financial situations while in residency. Orthopaedic residency programs have the opportunity to implement program-sponsored training and financial resources to enhance the resident education experience.
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