BackgroundUsher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool.MethodsWe sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3).ResultsBiallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%). In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%), and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48%) were novel.ConclusionsBased on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.

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IntroductionEmergency physicians frequently perform endotracheal intubation and mechanical ventilation. The impact of instituting early post-intubation interventions on patients boarding in the emergency department (ED) is not well studied. We sought to determine the impact of post-intubation interventions (arterial blood gas sampling, obtaining a chest x-ray (CXR), gastric decompression, early sedation, appropriate initial tidal volume, and quantitative capnography) on outcomes of mortality, ventilator-associated pneumonia (VAP), ventilator days, and intensive care unit (ICU) length-of-stay (LOS).MethodsThis was an observational, retrospective study of patients intubated in the ED at a large tertiary-care teaching hospital and included patients in the ED for greater than two hours post-intubation. We excluded them if they had incomplete data, were designated “do not resuscitate,” were managed primarily by the trauma team, or had surgery within six hours after intubation.ResultsOf 169 patients meeting criteria, 15 died and 10 developed VAP. The mortality odds ratio (OR) in patients receiving CXR was 0.10 (95% CI 0.01 to 0.98), and 0.11 (95% CI 0.03 to 0.46) in patients receiving early sedation. The mortality OR for patients with 3 or fewer interventions was 4.25 (95% CI 1.15 to 15.75) when compared to patients with 5 or more interventions. There was no significant relationship between VAP rate, ventilator days, or ICU LOS and any of the intervention groups.ConclusionThe performance of a CXR and early sedation as well as performing five or more vs. three or fewer post-intubation interventions in boarding adult ED patients was associated with decreased mortality.

Diabetes medication management and survival skills education for uncontrolled diabetes may be safely initiated in the ED, as demonstrated by the multidisciplinary STEP-DC intervention, which effectively enabled glycemic control in this pilot study.

IntroductionSeveral prior studies have examined the impact of learners (medical students or residents) on overall emergency department (ED) flow as well as the impact of resident training level on the number of patients seen by residents per hour. No study to date has specifically examined the impact of learners on emergency medicine (EM) attending physician productivity, with regards to patients per hour (PPH). We sought to evaluate whether learners increase, decrease, or have no effect on the productivity of EM attending physicians in a teaching program with one student or resident per attending.MethodsThis was a retrospective database review of an urban, academic tertiary care center with 3 separate teams on the acute care side of the ED. Each team was staffed with one attending physician paired with either one resident, one medical student or with no learners. All shifts from July 1, 2008 to June 30, 2010 were reviewed using an electronic database. We predefined a shift as “Resident” if > 5 patients were seen by a resident, “Medical Student” if any patients were seen by a medical student, and “No Learners” if no patients were seen by a medical student or resident. Shifts were removed from analysis if more than one learner saw patients during the shift. We further stratified resident shifts by EM training level or off-service rotator. For each type of shift, the total number of patients seen by the attending physician was then divided by 8 hours (shift duration) to arrive at number of patients per hour.ResultsWe analyzed a total of 7,360 shifts with 2,778 removed due to multiple learners on a team. For the 2,199 shifts with attending physicians with no learners, the average number of PPH was 1.87(95% confidence interval [CI] 1.86,1.89). For the 514 medical student shifts, the average PPH was 1.87(95% CI 1.84,1.90), p = 0.99 compared with attending with no learner. For the 1,935 resident shifts, the average PPH was 1.99(95% CI 1.97,2.00). Compared with attending physician with no learner, attending physicians with a resident saw more PPH (1.99 vs 1.87, p<0.005). There was no statistically significant difference found between EM1: 1.98PPH, EM2: 1.99PPH, EM3: 1.99PPH, and off-service rotators: 1.99PPH.ConclusionEM attending physicians paired with a resident in a one-on-one teaching model saw statistically significantly more patients per hour (0.12 more patients per hour) than EM attending physicians alone. EM attending physicians paired with a medical student saw the same number of patients per hour compared with working alone.

Committee and Subcommittee Revising the Opioid Clinical policy Policy statements and clinical policies are the official policies of the American College of Emergency Physicians and, as such, are not subject to the same peer review process as articles appearing in the journal. Policy statements and clinical policies of ACEP do not necessarily reflect the policies and beliefs of Annals of Emergency Medicine and its editors.

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Patients with diabetes are increasingly common in hospital settings where optimal glycemic control remains challenging. Inpatient technology-enabled support systems are being designed, adapted and evaluated to meet this challenge. Insulin pump use, increasingly common in outpatients, has been shown to be safe among select inpatients. Dedicated pump protocols and provider training are needed to optimize pump use in the hospital. Continuous glucose monitoring (CGM) has been shown to be comparable to usual care for blood glucose surveillance in intensive care unit (ICU) settings but data on cost effectiveness is lacking. CGM use in non-ICU settings remains investigational and patient use of home CGM in inpatient settings is not recommended due to safety concerns. Compared to unstructured insulin prescription, a continuum of effective electronic medical record-based support for insulin prescription exists from passive order sets to clinical decision support to fully automated electronic Glycemic Management Systems. Relative efficacy and cost among these systems remains unanswered. An array of novel platforms are being evaluated to engage patients in technology-enabled diabetes education in the hospital. These hold tremendous promise in affording universal access to hospitalized patients with diabetes to effective self-management education and its attendant short/long term clinical benefits.