Citations

Importance Diagnostic errors represent a major patient safety concern, with the potential to significantly impact patient outcomes. To address this, various trigger-based strategies have been developed to identify diagnostic errors, aiming to enhance clinical decision-making and improve patient safety. Objective To evaluate the performance of three pre-established triggers (T) in the emergency department (ED) setting and assess their effectiveness in detecting diagnostic errors. Design Consecutive cohort, retrospective observational design. Setting Academic ED with 80 000 annual visits. Participants Adults and children presenting to a single ED in the USA between 1 May 2018 and 1 January 2020. Intervention/outcomes Electronic health records (EHRs) were retrieved and categorised into trigger-positive and trigger-negative cases using the following criteria: T1—unscheduled returnvisits to the ED with admission within 7–10 days of theinitial visit; T2—care escalation from the inpatient unitto the intensive care unit (ICU) within 6, 12 or 24 hoursof ED admission; and T3—all deaths in the ED or within24 hours of ED admission, excluding palliative care. A random sample of trigger-positive cases was reviewed using the SaferDx tool to determine the presence or absence of a diagnostic error. Results A total of 5791 trigger-positive and 118262 trigger-negative cases were identified. Among trigger-positive cases, 4159 (72%) were associated with T1, 1415 (24%) with T2, and 217 (4%) with T3. A preliminary chart review of 462 trigger-positive and 251 trigger-negative cases showed most were error-negative (279 and 217, respectively). Detailed reviews found 32 diagnostic errors among 183 trigger-positive cases, yielding PPVs of 5.4% (T1), 8.9% (T2), and 6.9% (T3). No errors were found in 34 reviewed trigger-negative cases, resulting in a 100% NPV. Sepsis was the most common diagnosis among error-positive cases (n=11, 34.4%). Those with non-specific chief complaints like altered mental status or shortness of breath had higher diagnostic error risk. Conclusion and relevance While previously proposed EHR-based triggers can identify some diagnostic errors, they are insufficient for detecting all cases. To improve error detection performance, we recommend exploring data-driven strategies, such as machine learning techniques, to more effectively identify underlying contributing factors to diagnostic errors and enhance detection accuracy in the ED.

Abstract Rumination syndrome (RS) is a common pediatric disorder of gut–brain interaction. However, a dearth of research on efficacious treatment to help guide clinical decision‐making remains. Thus, relying on well‐established treatment recommendations for other conditions with similar mechanisms or symptom profiles may be helpful; for example, conceptualizing RS treatment targets to address it as a “tic disorder of the gut” could be beneficial. To demonstrate the clinical utility of this conceptualization, we presented two cases that provide broad implications for treating pediatric RS. In both cases, akin to pediatric tic and related disorders, cognitive distress and physical discomfort were alleviated temporarily by rumination episodes. Thus, we recommend a targeted diagnostic assessment, including a functional analysis incorporating a transdiagnostic evaluation of symptoms. Close comanagement with specialty physicians and psychologists is also highly recommended. The patients represent complex yet standard cases seen in pediatric psychology outpatient clinics, suggesting the clinical utility of implications for psychologists and allied health professionals.

ABSTRACT Rationale Longer duration of epilepsy before surgery is a predictor of poor outcome. While referral delays of surgical candidates are well documented, factors causing delay during the presurgical evaluation remain unclear and may vary depending on institutional characteristics. By benchmarking the duration of presurgical evaluation across multiple centers and identifying patient and evaluation characteristics contributing to duration, we can ascertain best practices and address modifiable contributors to reduce delays. Methods We queried the Pediatric Epilepsy Research Consortium Surgery Database, a prospective, observational multicenter study enrolling children 0–18 years at 27 US pediatric epilepsy centers, for all patients undergoing initial presurgical evaluation for drug‐resistant epilepsy (DRE). We included patients with completed evaluations and data on duration from initiation of presurgical evaluation to final surgical decision. We compared patient characteristics and evaluation components between those with long duration evaluations (> 75% quartile) and those with short evaluations (< 25% quartile). Akaike information criteria selection identified variables associated with longer duration. From these, we developed a logistic prediction model for evaluation duration, using a random 80/20 training/testing split of the entire cohort. The model was tested among institutions with ≥ 10 patients in the cohort to assess its accuracy in predicting long durations. Linear models for each site assessed each variable's impact on duration. Variables with < 10% of the patient population at each site were excluded. Beta values were compared to identify intra‐ and inter‐institution variability and to delineate institutions with the shortest added duration for each variable. Results Of 2318 patients undergoing surgical evaluation, 1655 (71%) from 23 sites had complete data. Median evaluation duration was 8 weeks (interquartile range 3–22); 453 (27%) were short‐duration evaluations and 414 (25%) were long‐duration evaluations. Multiple patient and evaluation characteristics were associated with duration (Table 1). Table 6 provides the average duration each variable contributes to evaluation by site, highlighting the shortest durations compared with other groups. Conclusions Duration of presurgical evaluation for DRE can be accurately modeled using multiple patient characteristics and testing strategies commonly employed in epilepsy surgery evaluations. This predictive model can not only estimate evaluation duration but also identify opportunities to improve systemic efficiency. Institution‐level modeling identifies specific program strengths, providing an opportunity to learn from successful processes. Subsequent research will focus on institutional process mapping to better understand systemic practices that lead to improved efficiencies, then sharing these processes across the consortium to shorten evaluation durations.

The NCCN Guidelines for Uterine Neoplasms provide recommendations for diagnostic workup, clinical staging, and treatment options for patients with endometrial cancer and uterine sarcoma. The NCCN Cervical Uterine Panel meets at least annually to review comments from reviewers within their institutions; examine relevant new data from publications, abstracts, and recent FDA approvals; and reevaluate and update recommendations. These NCCN Guidelines Insights summarize the panel’s deliberations on the new FIGO 2023 staging system and updates on the new systemic therapy recommendations for the management of endometrial cancer.

Intronic GGGGCC hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Despite its intronic location, this repeat avidly supports synthesis of pathogenic dipeptide repeat (DPR) proteins via repeat-associated non-AUG (RAN) translation. However, the template RNA species that undergoes RAN translation endogenously remains unclear. Using long-read based 5′ RNA ligase-mediated rapid amplification of cDNA ends (5′ Repeat-RLM-RACE), we identified C9orf72 transcripts initiating within intron 1 in a C9BAC mouse model, patient-derived iNeurons, and iNeuron-derived polysomes. These cryptic m 7 G-capped mRNAs are at least partially polyadenylated and are more abundant than transcripts derived from intron retention or circular intron lariats. In RAN translation reporter assays, intronic template transcripts–even those with short (32 nucleotide) leaders–exhibited robust expression compared to exon–intron and repeat-containing lariat reporters. To assess endogenous repeat-containing lariat RNA contributions to RAN translation, we enhanced endogenous lariat stability by knocking down the lariat debranching enzyme Dbr1. However, this modulation did not impact DPR production in patient-derived iNeurons. These findings identify cryptic, linear, m 7 G-capped intron-initiating C9orf72 mRNAs as an endogenous template for RAN translation and DPR production, with implications for disease pathogenesis and therapeutic development.

Abstract Background Despite advances in diagnosis and management, the interstitial lung disease (ILD) lexicon is plagued by ambiguous and inconsistent terminology that complicates communication and impedes knowledge generation. The objective of this Fleischner Society Consensus Statement was to produce standardized terminology for ILD multidisciplinary diagnoses and major phenotypes. Methods Interviews with 10 experts were used to identify ILD clinical diagnoses and major phenotypes. The preferred terms for each entity and potential alternatives were identified, alongside the rationale for the preferred term. Entities with more than one potential term were the subject of an online modified Delphi survey posed to the 29 committee members, aiming to achieve consensus. Committee members rated their agreement with the initially preferred term—5 (strongly agree), 4 (agree), 3 (neutral/unsure), 2 (disagree), and 1 (strongly disagree)—with the option to provide additional comments. Median score ≥4 and interquartile range ≤1 were considered consensus agreement. Terms not reaching agreement were discussed by video conference, followed by an additional survey that incorporated feedback. Results From the 60 initial terms, there were two root terms that required upfront consensus before survey initiation (ILD and interstitial pneumonia) and another eight terms that had no alternative suggested by the committee or in the literature. Agreement was met by 47/50 terms (94%) in Round 1 of the survey. The three terms (6%) that did not reach agreement met agreement in Round 2. Conclusions This document provides standardized recommended terms for ILD multidisciplinary diagnoses and major phenotypes that will facilitate communication among clinicians, researchers, patients, and other stakeholders.

ABSTRACT Background Pulmonary vein isolation (PVI) is the mainstay treatment for rhythm control in patients with persistent atrial fibrillation (PsAF). However, due to the complex mechanisms of PsAF, the efficacy of PVI alone remains modest. Spatiotemporal electrogram dispersion (STED) ablation is a promising strategy to enhance outcomes. This study aims to evaluate the efficacy of STED ablation plus PVI versus PVI alone in PsAF ablation. Methods A systematic search was conducted to identify studies published up to November 2024 comparing PVI plus STED ablation (PVI‐STED group) versus PVI alone (PVI group) in patients with PsAF. The primary outcomes were AF recurrence and sinus rhythm (SR) conversion. Results Eleven studies (three randomized controlled trials, three prospective cohorts, five retrospective cohorts) involving 1607 patients (mean age of 63.9 ± 9.3 years) were included. The PVI‐STED group was significantly associated with a lower risk of AF recurrence (OR: 0.40, 95% CI: 0.27–0.59, I ² = 25%) and a higher likelihood of SR conversion (OR: 7.04, 95% CI: 1.62–30.62, I 2 = 79%). No significant differences were observed in procedural time (MD: 27.61 min, 95% CI: −29.12 to 84.33, I ² = 97%), ablation time (MD: 4.4 min, 95% CI: −11.3 to 20.0, I 2 = 98%), or fluoroscopy time (0.25 min, 95% CI: −3.4 to 3.9, I 2 = 95%). The overall rate of AEs in the PVI‐STED group was 1% (95% CI: 1%–3%, I 2 = 0%). Conclusion The PVI‐STED approach demonstrated both efficacy and safety in treating PsAF, as evidenced by reduced AF recurrence and improved SR conversion rates.