Expanding the phenotype of Harel-Yoon syndrome: A case report suggesting a genotype/phenotype correlation.

Harel-Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the ATAD3A gene, pivotal for mitochondrial function. This report presents a 5-year-old girl with HAYOS harboring a de novo heterozygous variant c.1064G>A; (p.G355D) in ATAD3A. Her clinical profile includes delayed milestones, hypotonia, spastic quadriplegia, and ptosis. Notably, dermatologic anomalies such as hypopigmentation, café au lait macules, and freckling are observed, expanding the known phenotype of HAYOS. The inclusion of dermatologic features challenges our understanding of the syndrome and emphasizes the importance of further research to elucidate the molecular connections between ATAD3A mutations and dermatologic manifestations.

Medical Student Note Quality on a Pediatrics Core Clerkship Differs by Service.

Introduction Medical students rotate on various clinical disciplines with the same professional goal of learning medical documentation. This study investigated differences between medical student notes on inpatient general and subspecialty pediatric services by comparing note quality, length, and file time. Methods In a single-site, observational cohort study, medical students in the Core Clerkship in Pediatrics (CCP) from July 2020 to June 2021 participated in a note-writing didactic course. We compared notes from medical students completing their inpatient assignment on a general pediatric service to those who completed it on a pediatric subspecialty service. Primary outcomes were note quality measured by Physician Documentation Quality Instrument-9 (PDQI9), note length (measured by line count), and file time (measured by hours to completion since 6 AM on the morning of note initiation). Results We evaluated 84 notes from 84 medical students on the general pediatric services and 50 notes from 49 medical students on the pediatric subspecialty services. Note quality measured by PDQI9 was significantly higher for general pediatric service notes compared to pediatric subspecialty service notes (p = 0.03). General pediatric service notes were significantly shorter (p < 0.001). We found no difference in file time (p = 0.23). Conclusion Medical student notes on pediatric subspecialty services scored significantly lower in quality and were longer compared to general pediatric services, demonstrating the need for a more tailored note-writing curriculum and note template based on service.

Assessing the Impact of a Note-Writing Session and Standardized Note Template on Medical Student Note Length and Quality.

PURPOSE: To determine whether a formal note-writing session and note template for medical students (MS) during the Core Clerkship in Pediatrics (CCP) increase note quality, shortens note length, and decreases time of documentation. METHODS: In this single site, prospective study, MS participating in an 8-week CCP received a didactic session on note-writing in the electronic health record (EHR) and utilized EHR template developed for the study. We assessed note quality (measured by Physician Documentation Quality Instrument-9 [PDQI-9]), note length and note documentation time in this group compared to MS notes on the CCP in the prior academic year. We used descriptive statistics and Kruskal-Wallis tests for analysis. RESULTS: We analyzed 121 notes written by 40 students in the control group and 92 notes writing by 41 students in the intervention group. Notes from the intervention group were more "up to date," "accurate," "organized," and "comprehensible" compared to the control group (P = 0.02, P = 0.04, P = 0.01, and P = 0.02, respectively). Intervention group notes received higher cumulative PDQI-9 scores compared to the control group (median score 38 (IQR 34-42) versus 36 (IQR 32-40) out of 45 total, P = 0.04). Intervention group notes were approximately 35% shorter than the control group notes (median 68.5 lines vs 105 lines, P < 0.0001) and were signed earlier than control group notes (median file time 316 minute vs 352 minute, P = 0.02). CONCLUSIONS: The intervention successfully decreased note length, improved note quality based on standardized metrics, and reduced time to completion of note documentation.

Left Ventricular Diastolic Dysfunction Among Youth with Obesity and History of Elevated Blood Pressure.

OBJECTIVE: To assess prevalence of and factors associated with left ventricular diastolic dysfunction (LVDD) in youth with obesity and elevated blood pressure (BP). STUDY DESIGN: This was a cross-sectional analysis of baseline and follow-up visits of 83 youth, 5-21 years, evaluated for overweight/obesity and elevated BP in a multidisciplinary clinic. LVDD was defined according to established adult criteria (LVDDadult; E/A < 1, E/e' > 14, or e'/a' < 0.8) and pediatric criteria (LVDDpeds; E/A <10th percentile, E/e' >99th percentile, or e'/a' <1st percentile) based on data from 103 age-sex matched healthy controls. Baseline factors associated with LVDDpeds were examined using Wilcoxon rank sum and χ2 tests. Multiple logistic regression analyses using generalized estimating equations to account for repeated measures evaluated the associations of adiposity and BP with LVDDpeds. RESULTS: The prevalence of LVDD ranged from 1.2% to 2.7% when we used adult criteria and 19% to 28% when we used pediatric criteria. Those with LVDDpeds were older, predominantly male, and non-African American and had greater weight, BP, BP medication use, and non-high-density lipoprotein cholesterol than those without LVDDpeds. Diastolic BP z score was associated with LVDDpeds by E/A (OR 1.95, 95% CI 1.15-3.32, P = .014) after we adjusted for age, sex, race, BP medications, and body mass index z score. CONCLUSIONS: LVDD was present in a substantial proportion of youth with overweight/obesity and elevated BP using pediatric criteria. Those with LVDDpeds had significantly greater measures of adiposity and BP compared with those without LVDDpeds, and diastolic BP z score was an independent predictor of LVDDpeds by E/A. These data emphasize the importance of prevention and treatment of cardiovascular disease risk factors in childhood.