Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.

Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci.

What's the bug?: An unusual cause of bacterial meningitis in a patient with history of transsphenoidal surgery.

Bacterial meningitis is an increasingly rare disease that carries significant morbidity and mortality. We describe the case of a 38-year-old male with a past medical history of pituitary macroadenoma with prior endonasal surgeries on prednisone therapy daily for resultant hypopituitarism and juvenile myoclonic epilepsy on lamotrigine daily who was transferred to an academic tertiary emergency department due to concern for developing pituitary apoplexy. At the outside emergency department, the patient presented complaining of sudden onset severe headache.

Educator's blueprint: A how-to guide for creating high-quality slides.

Didactics are the primary modality in which educators disseminate knowledge. The accompanying slides are a critical element, which can enhance or distract from the corresponding presentation. This Educator's Blueprint provides 10 strategies for creating high-quality presentation slides.

Applying the master adaptive learner framework to just-in-time training of procedures.

Background: Just-in-time training (JITT) occurs in the clinical context when learners need immediate guidance for procedures due to a lack of proficiency or the need for knowledge refreshment. The master adaptive learner (MAL) framework presents a comprehensive model of transforming learners into adaptive experts, proficient not only in their current tasks but also in the ongoing development of lifelong skills. With the evolving landscape of procedural competence in emergency medicine (EM), trainees must develop the capacity to acquire and master new techniques consistently.

Educational Podcasts: Effect of Content Delivery Timing on Knowledge Acquisition and Retention.

Purpose: This study examined whether the order of podcast content influenced knowledge acquisition and retention among emergency medicine (EM) resident physicians.

Method: This preplanned secondary analysis of 2 large, multicenter trials included a randomized, crossover trial conducted from November 2019 to June 2020 of 100 residents that compared driving and seated condition for two 30-minute podcasts and a randomized, crossover trial conducted from September 2022 to January 2023 of 95 EM residents that compared exercise with seated condition for the same two 30-minute podcasts. Each podcast contained 6 journal article reviews, with the segments recorded in forward or backward order.

A scoping review of artificial intelligence in medical education: BEME Guide No. 84.

Background: Artificial Intelligence (AI) is rapidly transforming healthcare, and there is a critical need for a nuanced understanding of how AI is reshaping teaching, learning, and educational practice in medical education. This review aimed to map the literature regarding AI applications in medical education, core areas of findings, potential candidates for formal systematic review and gaps for future research.

Methods: This rapid scoping review, conducted over 16 weeks, employed Arksey and O'Malley's framework and adhered to STORIES and BEME guidelines.

A Randomized Trial Assessing the Effect of Exercise on Residents' Podcast Knowledge Acquisition and Retention.

Purpose: Podcasts are commonly used by residents as part of their learning, with many listening concomitantly with other activities (e.g., driving and exercise).

Improving Graduate Medical Education by Aggregating Data Across the Medical Education Continuum.

Meaningful improvements to graduate medical education (GME) have been achieved in recent decades, yet many GME improvement pilots have been small trials without rigorous outcome measures and with limited generalizability. Thus, lack of access to large-scale data is a key barrier to generating empiric evidence to improve GME. In this article, the authors examine the potential of a national GME data infrastructure to improve GME, review the output of 2 national workshops on this topic, and propose a path toward achieving this goal.

A decade of faculty development for health professions educators: lessons learned from the Macy Faculty Scholars Program.

Faculty development (FD) programs are critical for providing the knowledge and skills necessary to drive positive change in health professions education, but they take many forms to attain the program goals. The Macy Faculty Scholars Program (MFSP), created by the Josiah Macy Jr. Foundation (JMJF) in 2010, intends to develop participants as leaders, scholars, teachers, and mentors.

Guidelines: The Do's, Don'ts and Don't Knows of Creating Open Educational Resources.

Background: In medical education, there is a growing global demand for Open Educational Resources (OERs). However, OER creators are challenged by a lack of uniform standards. In this guideline, the authors curated the literature on how to produce OERs for medical education with practical guidance on the Do's, Don'ts and Don't Knows for OER creation in order to improve the impact and quality of OERs in medical education.

Development of a lecture evaluation tool rooted in cognitive load theory: A modified Delphi study.

Background: Didactics play a key role in medical education. There is no standardized didactic evaluation tool to assess quality and provide feedback to instructors. Cognitive load theory provides a framework for lecture evaluations.

Virtual interviewing for graduate medical education recruitment and selection: A BEME systematic review: BEME Guide No. 80.

Background: The COVID-19 pandemic caused graduate medical education (GME) programs to pivot to virtual interviews (VIs) for recruitment and selection. This systematic review synthesizes the rapidly expanding evidence base on VIs, providing insights into preferred formats, strengths, and weaknesses.

Methods: PubMed/MEDLINE, Scopus, ERIC, PsycINFO, MedEdPublish, and Google Scholar were searched from 1 January 2012 to 21 February 2022.

Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.

Introduction: Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic kidney disease at relatively low cost, thereby allowing for more precise management for patients and their families. A major challenge is interpreting rare variants, many of which are classified as variants of unknown significance (VUS).

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide significance. We show 6-fold larger effect for fat-distribution associated rare coding variants compared with fine-mapped common alleles, enrichment for genes expressed in adipose tissue and causal genes for partial lipodystrophies, and evidence of sex-dimorphism.

Germline Mutations in and Protection against Liver Disease.

Background: Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets.

Methods: We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes. We conducted in vitro experiments to further characterize associations.