Diagnostic delay in monogenic disease: A scoping review.

PURPOSE: Diagnostic delay in monogenic disease is reportedly common. We conducted a scoping review investigating variability in study design, results, and conclusions. METHODS: We searched the academic literature on January 17, 2023, for original peer reviewed journals and conference articles that quantified diagnostic delay in monogenic disease. We abstracted the reported diagnostic delay, relevant study design features, and definitions. RESULTS: Our search identified 259 articles quantifying diagnostic delay in 111 distinct monogenetic diseases. Median reported diagnostic delay for all studies collectively in monogenetic diseases was 5.0 years (IQR 2-10). There was major variation in the reported delay within individual monogenetic diseases. Shorter delay was associated with disorders of childhood metabolism, immunity, and development. The majority (67.6%) of articles that studied delay reported an improvement with calendar time. Study design and definitions of delay were highly heterogenous. Three gaps were identified: (1) no studies were conducted in the least developed countries, (2) delay has not been studied for the majority of known, or (3) most prevalent genetic diseases. CONCLUSION: Heterogenous study design and definitions of diagnostic delay inhibit comparison across studies. Future efforts should focus on standardizing delay measurements, while expanding the research to low-income countries.

Time to Surgery in Spinal Trauma: A Meta-Analysis of the World's Literature Comparing High-Income Countries to Low-Middle Income Countries.

OBJECTIVE: We conducted a systematic review and meta-analysis to: 1) compare time from traumatic spinal injury (TSI) to operating room (OR) in high-income countries (HICs) versus low-middle-income countries (LMICs), and 2) evaluate hospital length of stay (LOS) in HICs versus LMICs. METHODS: A systematic literature search was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines involving articles of all languages. INCLUSION CRITERIA: published between 1991 and 2021, spine trauma population, single country/region, and recorded time from injury to OR. The primary outcome was time from injury to OR, and the secondary outcome was LOS. Means and standard deviations were estimated in a random effects model by DerSimonian and Laird methods. RESULTS: Of 2367 articles, 163 met the inclusion criteria for systematic review. Regarding time from injury to OR, 23 articles were eligible for meta-analysis; 16 studies were conducted in HICs and 7 in LMICs, comprising 3819 patients with TSI. A significantly shorter mean time from injury to OR was found in HICs (1.92 days, 95% confidence interval 1.44-2.41) compared with LMICs (3.27 days, 95% confidence interval 2.27-4.27) (P = 0.020). Regarding length of stay, 14 articles were eligible for meta-analysis, 10 studies were conducted in HICs and 4 in LMICs, comprising 11,003 patients. There was no difference in LOS between HICs and LMICs (25.76 days vs. 20.48 days, P = 0.140). CONCLUSIONS: Patients with traumatic spinal injuries in HICs were more likely to undergo earlier surgery compared to patients in LMICs. No difference was found in total LOS between HICs and LMICs. While multiple factors can influence time to surgery, these findings draw attention to the global disparity in spinal trauma care.

The Never-Ending Evolutionary Saga of Assessing and Demonstrating the Value of Information Services in a Biomedical Library.

Demonstrating added value can be very challenging, yet it is becoming important in academic libraries. The current literature primarily discusses citation analysis and usage reports to demonstrate return on investment for collections or impact on scholarly activity. However, value is not only in our collections but also in the library staff who support the institutional mission. Vanderbilt University's Annette and Irwin Eskind Family Biomedical Library and Learning Center has been experimenting with several methods to supplement the collections data with services performed by the staff. This article discusses the project's four phases as part of the goal to strategically demonstrate the biomedical library's added value to the university and medical center.