Faculty Bibliography

BACKGROUND:Genotype-phenotype correlations in pediatric hypertrophic cardiomyopathy (HCM) are not well established. Determining whether specific genes or variants correlate with disease severity may impact clinical care. OBJECTIVES/OBJECTIVE:This study aims to identify associations between pathogenic genetic variants in pediatric HCM and echocardiographic maximal left ventricular wall thickness. METHODS:Children with primary HCM from pediatric cardiomyopathy centers were recruited for research-based exome sequencing. Associations between genetic findings, imaging, and clinical outcomes were assessed. Genetic variants in established HCM genes were classified according to established guidelines. Left ventricular hypertrophy (LVH) at enrollment was classified as mild (z-score <12), moderate (z-score ≥12), or severe (z-score ≥17) based on LV septal or posterior wall thickness z-scores measured by a core echocardiography laboratory. RESULTS:Severity of LVH was determined in 143 children with adequate echocardiograms. The median age at enrollment was 11.5 years (range: 3.8-14.4 years). Overall, 51% had a pathogenic variant, of which 93% were in sarcomeric genes. Children with severe LVH (n = 40, 28%) were diagnosed at younger ages than those with mild LVH (n = 78, 55%) at a median of 6.4 vs 12.9 years, P = 0.005. Those with severe LVH were more likely to have pathogenic variants; this association was driven by variants in MYBPC3 (OR: 4.1; 95% CI: 1.7-9.9). Missense variants in MYBPC3 predominated over stop, insertion-deletion, or splicing variants in severe cases. CONCLUSIONS:In this population of children with primary HCM, severe LVH was associated with a younger age at enrollment and a higher likelihood of harboring a pathogenic variant in MYBPC3. (Genotype-Phenotype Associations in Pediatric Cardiomyopathy [PCM GENES]; NCT01873963).

Dysembryoplastic neuroepithelial tumors (DNTs) are low-grade glioneuronal tumors with FGFR1 alterations. They show significant histologic and molecular overlap with other glioneuronal tumors, complicating diagnosis. We analyzed 44 tumors that were either classified as DNT by DNA methylation (n = 37), or were diagnosed histologically as DNT but did not classify as DNT by DNA methylation (n = 7). 13/37 (35%) DNT-classifying tumors were histologically diagnosed as DNTs. High-confidence DNTs (score >0.9, 23 cases, 62%) demonstrated variable histology, most frequently DNT (39%), oligodendroglioma, and ganglioglioma and most frequently harbored FGFR1 alterations. Lower-confidence DNTs (score < 0.9, 14 cases, 38%) showed greater heterogeneity; their histologic diagnoses included papillary glioneuronal tumor, extraventricular neurocytoma, and pilocytic astrocytoma. Tumors with low confidence score exhibited diverse molecular alterations including BRAF V600E mutations, PDGFRA amplification, or multiple gene fusions. Among 7 histologically diagnosed DNTs that did not classify as DNT by methylation, most grouped with the myxoid glioneuronal PDGFRA-mutant class despite lacking canonical PDGFRA mutations. Thus, DNTs with high confidence scores are relatively homogenous but DNTs with low methylation confidence scores are heterogenous, highlighting the importance of integrated molecular profiling. Our findings also suggest that the myxoid glioneuronal tumor methylation class may require further classification of underlying drivers.

OBJECTIVE/UNASSIGNED:To test whether AI-generated, clinician-edited after-visit summaries (AVS) are more patient-friendly than clinician-generated AVS, without compromising safety, when implemented in a live inpatient setting. PATIENTS AND METHODS/UNASSIGNED:grade reading levels, and presence of a "simplified" description of both the diagnosis and treatment/interventions. Our composite outcome was positive if all 3 of these outcomes were positive. We also surveyed patients, nurses, and clinicians on perceptions of safety, empathy, and understandability. RESULTS/UNASSIGNED:grade than the control group (8.5 vs 10.6, P <.001). The AI-generated, clinician-edited AVS were also more likely to contain simplified explanations of diagnoses (96.7% vs 12.9%, P <.001) and hospital interventions (86.7% vs 12.9%, P <.001). Our composite outcome favored AI-generated, clinician-edited summaries (13.3% vs 6.5%, p = 0.637). CONCLUSION/UNASSIGNED:In this small, randomized trial, exploratory and component measures suggest improved patient-friendliness in AI-generated, clinician-edited AVS, although no significant difference was observed in the primary outcome. CLINICALTRIALSGOV NUMBER/UNASSIGNED:NCT06711458.

Patients with chronic or end stage kidney disease often require multiple medications as part of their treatment regimen. The role of nephrology nurses in medication administration is to follow the five rights of medication administration, ensure all medication-related education is completed, and provide patient safety that enhances the delivery of quality care. By adding a medication and barcode scanning process in our outpatient dialysis units, we are demonstrating a solid commitment to accuracy and engagement in patient safety processes. Just as there is a need in the hospital for safety parameters for medication administration, medication safety strategies need to be implemented in outpatient settings. This approach helps minimize the risk of medication errors and adverse medication errors caused by polypharmacy and drug interactions.

Kaplan-Meier analysis of time to first all-cause readmission over 12 months among older adults with ischemic heart disease randomized to 3 months of mobile health cardiac rehabilitation (mHealth-CR) or usual care. There was no significant difference in time to first readmission between groups (log-rank P = 0.26).

OBJECTIVES/OBJECTIVE:Chronic hepatitis C can complicate the treatment of coronary artery disease (CAD), especially among racial and ethnic minority patients. This study explores racial and ethnic differences in the prevalence of hepatitis C and inpatient mortality among patients admitted to the hospital primarily for a CAD event in the USA. METHODS:An observational analysis was conducted using data from the 2016 to 2021 National Inpatient Sample, including 1,946,182 CAD patients, of whom 7426 (0.38%) had chronic hepatitis C. We performed weighted logistic regressions to analyze the relationship between race and ethnicity (non-Hispanic White, non-Hispanic Black, Hispanic, and other races) regarding the prevalence of hepatitis C and inpatient mortality, adjusting for patient sociodemographic characteristics and comorbidities. RESULTS:Non-Hispanic Black patients had the highest prevalence of hepatitis C (adjusted odds ratio [aOR] = 1.57, 95% confidence interval [CI] 1.48-1.67) and Hispanic patients with underlying hepatitis C had the highest in-hospital mortality (aOR = 1.56, 95% CI 1.11-2.20) compared to non-Hispanic White patients and other racial groups. CONCLUSIONS:We found significant racial and ethnic differences in the prevalence of hepatitis C and mortality among patients with underlying chronic hepatitis C admitted primarily for CAD events in the USA. This disparity may exist due to lower rates of hepatitis C virus (HCV) treatment, higher severity and prevalence of underlying health conditions, poorer healthcare access and insurance coverage, and a higher rate of alcohol use and cirrhosis progression in minority populations.

BACKGROUND:Starting a pediatric subspecialty fellowship presents numerous challenges to trainees. Virtual Symposium of Pediatric Hematology/Oncology of New York (v-SYMPHONY), an educational collaborative organized by 18 pediatric hematology-oncology (PHO) programs, initiated an annual bootcamp in 2022 aimed at easing the transition from pediatric residency to PHO fellowship. METHODS:The bootcamp consisted of virtual clinical lectures and fellow-led panels, which were created with input from diverse program leadership, educators, and past fellows using Kern's six-step module of curriculum development. It was offered to incoming fellows, first in the NY/NJ/CT region, and subsequently expanded nationally. RESULTS:Over 4 years (2022-2025), 147 pediatric residents completed this virtual bootcamp. The number of residents attending the live sessions increased from 19 in 2022 to 62 in 2025. Forty-four participants completed pre- and post-bootcamp surveys over this period, which showed significant improvement in both self-reported medical knowledge and preparedness and reported a decrease in transition to fellowship anxiety scores. CONCLUSION/CONCLUSIONS:These results highlight the need and benefits of a standardized orientation program that can be delivered virtually to ease the transition of PHO trainees from residency to fellowship. Such a standardized curriculum is feasible, adaptable, and potentially scalable to a national level.

INTRODUCTION/UNASSIGNED:Recent federal funding cuts have created pauses in admissions, hiring, and execution of research studies at academic medical centers internationally. These monetary reductions have also impacted allowances for non-essential faculty travel. As a result, faculty may now be faced with challenges in how they obtain professional development. METHODS/UNASSIGNED:A cross-sectional, exploratory study was implemented to discover the impact of funding cuts on faculty travel for professional development opportunities, as well as strategies medical educators are using to mitigate the current landscape. RESULTS/UNASSIGNED:Findings indicate that faculty now must use alternative methods to obtain professional development and that institutional guidance is lacking in how to do so. DISCUSSION/UNASSIGNED:Authors provide concrete action steps for faculty to take amidst this challenge to remain engaged in professional development.