Undertriage of Trauma-Related Deaths in U.S. Emergency Departments.

INTRODUCTION: Accurate field triage of critically injured patients to trauma centers is vital for improving survival. We sought to estimate the national degree of undertriage of trauma patients who die in emergency departments (EDs) by evaluating the frequency and characteristics associated with triage to non-trauma centers. METHODS: This was a retrospective cross-sectional analysis of adult ED trauma deaths in the 2010 National Emergency Department Sample (NEDS). The primary outcome was appropriate triage to a trauma center (Level I, II or III) or undertriage to a non-trauma center. We subsequently focused on urban areas given improved access to trauma centers. We evaluated the associations of patient demographics, hospital region and mechanism of injury with triage to a trauma versus non-trauma center using multivariable logistic regression. RESULTS: We analyzed 3,971 included visits, representing 18,464 adult ED trauma-related deaths nationally. Of all trauma deaths, nearly half (44.5%, 95% CI [43.0-46.0]) of patients were triaged to non-trauma centers. In a subgroup analysis, over a third of urban ED visits (35.6%, 95% CI [34.1-37.1]) and most rural ED visits (86.4%, 95% CI [81.5-90.1]) were triaged to non-trauma centers. In urban EDs, female patients were less likely to be triaged to trauma centers versus non-trauma centers (adjusted odds ratio [OR] 0.83, 95% CI [0.70-0.99]). Highest median household income zip codes (≥$67,000) were less likely to be triaged to trauma centers than lowest median income ($1-40,999) (OR 0.54, 95% CI [0.43-0.69]). Compared to motor vehicle trauma, firearm trauma had similar odds of being triaged to a trauma center (OR 0.90, 95% CI [0.71-1.14]); however, falls were less likely to be triaged to a trauma center (OR 0.50, 95 %CI [0.38-0.66]). CONCLUSION: We found that nearly half of all trauma patients nationally and one-third of urban trauma patients, who died in the ED, were triaged to non-trauma centers, and thus undertriaged. Sex and other demographic disparities associated with this triage decision represent targeted opportunities to improve our trauma systems and reduce undertriage.

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

This report describes an algorithm developed to predict the pathogenicity of copy number variants (CNVs) in large sample cohorts. CNVs (genomic deletions and duplications) are found in healthy individuals and in individuals with genetic diagnoses, and differentiation of these two classes of CNVs can be challenging and usually requires extensive manual curation. We have developed PECONPI, an algorithm to assess the pathogenicity of CNVs based on gene content and CNV frequency. This software was applied to a large cohort of patients with genetically heterogeneous non-syndromic hearing loss to score and rank each CNV based on its relative pathogenicity. Of 636 individuals tested, we identified the likely underlying etiology of the hearing loss in 14 (2%) of the patients (1 with a homozygous deletion, 7 with a deletion of a known hearing loss gene and a point mutation on the trans allele and 6 with a deletion larger than 1 Mb). We also identified two probands with smaller deletions encompassing genes that may be functionally related to their hearing loss. The ability of PECONPI to determine the pathogenicity of CNVs was tested on a second genetically heterogeneous cohort with congenital heart defects (CHDs). It successfully identified a likely etiology in 6 of 355 individuals (2%). We believe this tool is useful for researchers with large genetically heterogeneous cohorts to help identify known pathogenic causes and novel disease genes.