Digital Commons Network^™

Small But Mighty: How Can Pediatric Psychologists Harness The Power Of Digital Single-Session Interventions?, Christina Amaro, Alexandra Monzon, Melissa Alderfer, Kimberly Canter, Michael Amylon, Stephanie Fooks-Parker, Jessica Schleider, Susana Patton, Katie Devine

Department of Pediatrics Faculty Papers

OBJECTIVE: Single-session interventions (SSIs) are an innovative, scalable approach for addressing the unmet behavioral and mental health needs of pediatric patients and their families. Specifically, digital SSIs, which are self-guided and delivered online, offer a low-cost and accessible approach but are currently underutilized in pediatric psychology.

METHODS: This topical review aims to describe SSIs broadly and the specific need for digital SSIs, explore potential applications within pediatric psychology, outline future directions and considerations, and present two examples of community-engaged digital SSI design.

RESULTS: SSIs evidence small to medium effects across a range of mental health concerns, including distress, anxiety, and …

Quality Improvement Initiative To Improve Adherence To Ob Hemorrhage Policy And Standardize Pitocin Administration During Cesarean Sections To Reduce Postpartum Hemorrhage Risk, Lauren R. Litz, Monica Blauser

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Postpartum hemorrhage remains a leading cause of maternal morbidity and mortality, and Pitocin administration is an important component of hemorrhage prevention and management during cesarean delivery. Variation in Pitocin timing, dosing, method of administration, and adherence to evidence-based recommendations may compromise patient safety and create barriers to standardized obstetric anesthesia care. The purpose of this Doctorate of Nurse Anesthesia Practice quality improvement project was to evaluate current anesthesia provider practices for Pitocin administration during cesarean delivery, compare observed practices with the California Maternal Quality Care Collaborative hemorrhage toolkit and Society for Obstetric Anesthesia and Perinatology Enhanced Recovery After Cesarean recommendations, …

Dnp Final Report: Improving Diabetes Self-Efficacy Through Nutrition Education: A Quality Improvement Project, Lakimberely S. Wooten

DNP Final Reports

Diabetes affects 12.7% of residents in Northeast Texas and is the 7th leading cause of death. Internal evidence indicates low health literacy and a heavy disease burden in the service area, underscoring the need for a standardized, low-cost, and feasible approach to nutrition education. This quality improvement project evaluated the feasibility of implementing an instructor-led nutrition education session. Guided by the Johns Hopkins Evidence-Based Practice Framework and the ADKAR behavioral change model, adult participants with Type 2 diabetes received instruction on the Plate Method. Participants enrolled in a 4-week, instructor-led diabetes education class completed a 1-hour, nutrition education session using …

Transfusion Intensity In The Icu: Reasons And Triggers, Merijn Reuland, Senta Raasveld, Jimmy Schenk, Claudia Oord, Sanne Bruin, Caroline Schaap, Andrew Flint, Jan Bakker, Maurizio Cecconi, Marcus Lance

Anaesthesiology, East Africa

Background The reasons and physiological triggers for blood transfusion in critically ill patients are not well characterized. Beyond hemoglobin levels, hemodynamic instability is frequently cited, but its role across clinical contexts remains unclear.

Aims (1) To determine whether reasons and triggers for RBC transfusion differ across intensive care unit (ICU) days with varying transfusion intensity. (2) To describe reasons for non-RBC transfusions across these intensity groups.

Methods This sub-study of the prospective International Point Prevalence Study of Intensive Care Unit Transfusion Practices (InPUT) classified ICU days by transfusion intensity: nonmajor (1 RBC unit), major (≥2 units), and massive (≥6 units …

Ai-Driven Segmentation And Volumetric Response Modeling Of Liver Regions To Radiotherapy, Aashish Chandra Gupta

Dissertations and Theses (Open Access)

In liver-directed radiotherapy (RT), liver regions receiving higher doses typically undergo atrophy while contralateral/adjacent lower-dose regions may exhibit compensatory hypertrophy through regeneration of healthy tissue. Optimizing the RT plan to promote regional hypertrophy while minimizing the risk of developing atrophy has the potential to enhance post-RT liver function and long-term survivorship. However, current clinical practice largely relies on global liver dose-volume metrics during RT-planning, which may obscure favorable dose-response correlation and limit actionable guidance for clinicians. Therefore, we hypothesized that post-RT regional liver response is governed by a combination of region-specific dose-volume and patient clinical features, and that these responses …

Advancing Health Equity In Global Oncology: A Collaborative Academic-Cancer Society-Industry Program To Address Health Disparities In Sub-Saharan Africa, Kenneth Merrell, Ben Kamdem-Talom, Hannah Anie, Christine Wekesa, Nomsa Tsikai, Miriam Mutebi, Rakiya Saidu, Nwamaka Lasebikan, Adamu Bojude, Randiak Alaro

General Surgery, East Africa

Purpose Cancer care capacity in sub-Saharan Africa (SSA) is constrained by late diagnosis and limited treatment access. Few funding mechanisms support innovative, locally led programs to address these challenges. A collaborative initiative was developed to strengthen oncology care through quality improvement (QI) projects.

Materials and Methods The program was developed by Global Bridges Oncology (GBO) at Mayo Clinic, Pfizer Global Medical Grants, and the African Organisation for Research and Training in Cancer. A committee composed primarily of African oncology experts guided the process. An RFP was disseminated across SSA in English, French, and Portuguese, inviting applications to improve diagnostic and …

Expanding Cleft Surgical Workforce Capacity In Low- And Middle-Income Countries Through Competency-Based Training, Daniel Bradley, Jonathan Diaz, Emily Jones, Kealani Unkel, Atenas Bustamante, Zenebe Gebremariyam, Daniel Abate, Mamy Andriamanarivo, Mekonen Abebe, Armando Siu

General Surgery, East Africa

Objective To evaluate a competency-based cleft surgery training pathway designed to expand local surgical capacity in low- and middle-income countries (LMICs).

Design Prospective observational study of cleft surgery training outcomes between July 2022 and September 2024.

Setting Operation Smile cleft surgery programs and partner hospitals in LMICs, with integrated virtual education.

Patients/Participants Twenty trainee cleft surgeons from 11 countries.

Interventions A competency-based training pathway combining virtual education and mentored operative experience, with assessment using a validated surgical competency tool.

Main Outcome Measures Changes in self-reported surgical confidence and educator-rated surgical competency

Results Trainee cleft surgeons participated in 1168 cleft lip …

Transplantation And Mortality As Competing Outcomes Among Patients On Dialysis With Newly Diagnosed Cancer: A Longitudinal Cohort Study, Ryan Gately, Eric A. Engels, Dharshana Sabanayagam, Armando Teixeira-Pinto, Scott Campbell, Carmel Hawley, Wai Lim, Germaine Wong

Research outputs 2022 to 2026

Rationale & Objective: A cancer diagnosis is associated with complex risks for patients that may influence survival and access to transplantation. This study characterized the probability and timing of cancer-related death, noncancer death, and transplantation among patients with an incident cancer diagnosis after dialysis initiation. Study Design: Longitudinal cohort study. Setting & Participants: In Australia and New Zealand, 2000-2021, 3,052 patients receiving dialysis, identified via the Australia and New Zealand Dialysis and Transplant Registry, with cancer diagnosed after they had started dialysis. Exposure: Cancer, categorized by type and stage. Outcome: Transplantation as well as cancer-related death and noncancer death for …

Vitamin B6 Predicts Poor Outcomes In Geographically Distinct Populations With Primary Sclerosing Cholangitis, Peder R Braadland, Ahmad H Ali, Philip Puchas, Brian D Juran, Elizabeth J Atkinson, Erik M Schlicht, Jackie K Bianchi, Bryan M Mccauley, Sara K V Tjønnfjord, Hólmfríður Helgadottir, Per M Ueland, Arve Ulvik, Peter Sauer, Trine Folseraas, Tom H Karlsen, Mette Vesterhus, Michael T Dill, Konstantinos N Lazaridis, Johannes R Hov

Faculty, Staff and Students Publications

Background & aims: Primary sclerosing cholangitis (PSC) has a variable disease course, complicating patient counseling and the timing of liver transplantation. Vitamin B6 deficiency predicts reduced liver transplantation-free survival in Scandinavian PSC cohorts. Here, we aimed to validate this observation in US and German PSC cohorts and to expand our analyses to include hepatic decompensation as a clinical outcome.

Methods: Serum active vitamin B6 (pyridoxal 5'-phosphate [PLP]) was analyzed using liquid chromatography-tandem mass spectrometry in retrospective cohorts of people with PSC from Norway (n = 315), the USA (n = 756), and Germany (n = 149). Cox proportional hazards and …

Long-Term Outcomes In Seronegative Rheumatoid Arthritis, Bradly A Kimbrough, Roslin Jose George, Cynthia S Crowson, Sara J Achenbach, Elizabeth J Atkinson, Vanessa L Kronzer, John M Davis, Elena Myasoedova

Faculty, Staff and Students Publications

Objective: The purpose of this study was to determine the cumulative incidence of diagnosis switching, drug-free remission, and initiation of a biologic or targeted synthetic disease-modifying antirheumatic drug (b/tsDMARD) in individuals with seronegative rheumatoid arthritis (RA).

Methods: Adult residents of Olmsted County, Minnesota, with incident seronegative (rheumatoid factor negative/anti-cyclic citrullinated peptide antibody negative) RA meeting the 1987 and/or 2010 American College of Rheumatology classification criteria were included. Data were collected from January 1, 2005, to December 31, 2023, through manual chart review. Drug-free remission was defined as a period of at least six months where the individual was no longer …

Colocalization Of Eqtls With Type 2 Diabetes And Glycemic Traits Using Whole-Genome Sequences In Diverse Populations From The Nhlbi Trans-Omics In Precision Medicine (Topmed) Program, Ningyuan Wang, Daniel A Dicorpo, Yixin Zhang, Erica Kleinbrink, Donna K Arnett, John Barnard, John Blangero, Donald W Bowden, April P Carson, Yii-Der Ida Chen, Mina K Chung, Joanne E Curran, Dawood Darbar, Ravindranath Duggirala, Patrick T Ellinor, Diane Fatkin, Myriam Fornage, Nancy Heard-Costa, Jiang He, Lifang Hou, Sharon L R Kardia, Charles Kooperberg, Ruth J F Loos, David D Mcmanus, Braxton D Mitchell, Ryan L Minster, Kari E North, Bruce M Psaty, Laura M Raffield, Susan Redline, Stephen S Rich, Dan Roden, Jerome I Rotter, Moore B Shoemaker, Jonathan D Smith, David R Van Wagoner, Francois Aguet, Kristin Ardlie, Joshua C Bis, Jennifer A Brody, Brian E Cade, Clary B Clish, Paul S De Vries, James S Floyd, Barry I Freedman, Stacey Gabriel, Robert E Gerzsten, Mark O Goodarzi, Charles Gu, Xiuqing Guo, Namrata Gupta, Susan R Heckbert, Sarah Hsu, Yi-Jen Hung, Rita R Kalyani, Tanika N Kelly, Gregory L Kinney, Changwei Li, Simin Liu, Yongmei Liu, Donald M Lloyd-Jones, Joann E Manson, Rasika A Mathias, Josep M Mercader, Alanna C Morrison, Take Naseri, Suna Onengut, Nicholette D Palmer, Patricia A Peyser, Qibin Qi, Sridharan Raghavan, Alex P Reiner, Mary R Rooney, Magdalena Sevilla-Gonzalez, Chloe Sarnowski, Joshua D Smith, Jennifer A Smith, Nicole L Spartano, Usman Tahir, Kent D Taylor, Deirdre K Tobias, Russel P Tracy, Satupa'itea Viali, Heming Wang, Alexis C Wood, Lisa R Yanek, Wei Zhao, Yinan Zheng, Josée Dupuis, Ching-Ti Liu, Robert Sladek, Jennifer Wessel, James B Meigs, Alisa K Manning, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium

Faculty, Staff and Students Publications

Large-scale multiancestry genome-wide association studies have identified hundreds of loci associated with type 2 diabetes (T2D) and glycemic traits, yet imputed genotyping arrays limit the detection of low-frequency and rare variants. Whole-genome sequencing (WGS) offers a more complete view of genetic variation, especially across diverse populations. We analyzed high-coverage (38×) WGS data from 21,913 T2D case subjects, 61,036 control subjects, and up to 50,011 individuals with no diabetes with fasting glucose, fasting insulin, and HbA1c from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Program. We performed single-variant association testing, conditional analysis, fine-mapping, and Bayesian colocalization to …

Proteomic Signatures Of 3-Year Progression From Impaired Fasting Glucose To Diabetes: The Atherosclerosis Risk In Communities (Aric) Study, Mary R Rooney, Justin B Echouffo Tcheugui, Jingsha Chen, Keenan A Walker, Christie M Ballantyne, Eric Boerwinkle, Tanika N Kelly, Chiadi E Ndumele, James S Pankow, Morgan E Grams, Wendy S Post, Peter J Ganz, Alexis C Wood, Jerome I Rotter, Elizabeth Selvin, Josef Coresh

Faculty, Staff and Students Publications

Objective: To identify proteomic signatures underlying 3-year progression from impaired fasting glucose (IFG) to diabetes.

Research design and methods: We examined IFG progression in the Atherosclerosis Risk in Communities (ARIC) study from visit 2 (1990-1992) to visit 3 (1993-1995). We tested associations of 4,955 plasma proteins (SomaScan version 4.0) with ∼3-year progression from IFG (FG 100-125 mg/dL without diabetes) to diabetes (diagnosis, medication, or FG ≥126 mg/dL) using logistic regression models adjusted for demographics, cardiometabolic risk factors, and baseline glucose with Bonferroni correction (P < 10-5). We explored biological pathways enriched among the top proteins and calculated improvements in prediction (ΔAUC and net reclassification using 3-year risk thresholds of 6% and 15% in 80% training and 20% internal validation subsamples). We validated results in the Multi-Ethnic Study of Atherosclerosis (MESA) cohort.

Results: There were 3,786 ARIC participants with IFG (mean [SD] age 57 [6] years, 52% female, …

Adrenal Crises And Quality Of Life After Bilateral Adrenalectomy Vs Primary Autoimmune Adrenal Insufficiency, Alexandra N Bancos, Raul Gregg-Garcia, Natalia Genere, Sanan Mahrokhian, Sara J Achenbach, Elizabeth J Atkinson, Anand Vaidya, Irina Bancos

Faculty, Staff and Students Publications

Context: Bilateral adrenalectomy (BLA) and autoimmune adrenal insufficiency (AAI) are 2 major causes of primary adrenal insufficiency (PAI). Comparative data between etiologies are limited.

Objective: To compare management, quality of life (QoL), and frequency of adrenal crises between participants post-BLA vs AAI.

Methods: We conducted a dual-center, cross-sectional study of adults with AAI or BLA between 2018 and 2025. All participants completed questionnaires on management, adrenal crises, and the Addison Disease-specific QoL Questionnaire (AddiQoL).

Results: Of 343 participants, 203 had AAI (median age 54 years, 72% women) and 139 had BLA (median age 57 years, 76% women). AddiQoL scores were …

Lessons Learned From The Validation Of A Machine Learning-Based Colorectal Carcinoma Screening Pipeline In Sub-Saharan Africa, Alfred Githuka, Ulysses Balis, Ye Chan Kim, Eileen Weinheimer-Haus, Christopher Williams, Jerome Cheng, Kelou Yao, John Blau, Shahin Sayed, Mansoor Saleh

Haematology and Oncology, East Africa

Background Artificial intelligence for digital pathology may improve cancer detection and workflow efficiency in low- and middle-income countries, but most models are trained and validated in high-income settings, creating uncertainty about generalizability and real-world deployability under differing pre-analytic and infrastructure conditions.

Objective To validate a locally optimized colorectal carcinoma screening pipeline, retrained on data from a local Kenyan cohort, and to assess its feasibility as a sensitivity-forward assistive pre-screening workflow.

Methods Formalin-fixed, paraffin-embedded hematoxylin and eosin-stained slides from 136 biopsy-proven colonic adenocarcinoma cases and 20 normal controls from 2 Kenyan institutions were digitized at 40× using a Grundium Ocus scanner. …

"I Can See Where This Is Taking Me": Medical Students' Perceptions Of Humanities Courses At Aga Khan University, Kenya, Catherine Gathu, Marthaclaire Zammit, Urvi Saboo, Robert Opoka

Family Medicine, East Africa

Background Humanities courses in medical training are increasingly recognized as essential for developing empathetic, reflective and socially responsive physicians. Although well-established globally, their integration into medical education in African contexts remains limited. In Kenya, humanities are often peripheral within curricula dominated by biomedical sciences and clinical medicine. Aga Khan University (AKU), Nairobi, has introduced a novel medical curriculum that embeds seven core humanities courses as central components of the initial phase of its MBChB program. This study explored students’ perceptions and lived experiences of these humanities courses.

Methods A retrospective descriptive study using an embedded mixed-methods design was conducted among …

Machine Learning In Flow Cytometry For Acute Myeloid Leukemia Diagnosis: A Scoping Review, Katrina Jezzela M. Dela Pena Md, Mls (Ascp)

Other Specialties

Manuscript version:

Introduction: Flow cytometry is essential for the diagnosis of acute myeloid leukemia (AML), but conventional analysis is labor-intensive, operator-dependent, and increasingly complex. Machine learning (ML) may support automated analysis; however, its readiness for clinical implementation remains unclear. This scoping review mapped ML approaches applied to flow cytometry for AML-related diagnosis.

Methods: PubMed was searched for English-language primary studies applying artificial intelligence, ML, or deep learning to human flow cytometry data for AML diagnosis or classification. Eligible studies reported diagnostic performance metrics. Study characteristics, preprocessing, data representation, model architecture, validation strategy, performance metrics, interpretability, and implementation considerations were descriptively …

Leveraging Administrative Health Data To Capture Rare Adverse Drug Reactions: Identifying Pediatric Patients With Trimethoprim-Sulfamethoxazole Acute Respiratory Distress Syndrome., Keith Feldman, Jenna Miller, Katherine Doane, Laura Loftis, James W. Antoon, Kevin J. Downes, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

Rare adverse drug reactions (ADRs) are underrecognized and underreported in the electronic medical record (EMR). These events often require clinical review, making systematic identification challenging. The study aim was to develop an approach to prioritize identification and validation of a rare ADR to trimethoprim-sulfamethoxazole causing acute respiratory distress syndrome (TMP-SMX ARDS) across medical institutions. We developed a clinical phenotype based on 2 local TMP-SMX ARDS cases mapped to standardized elements of a national comparative healthcare database (PHIS). We validated identification of TMP-SMX ARDS at scale across medical institutions. A set of scoring criteria was created to prioritize cases and generate …

A Cooking Skills Intervention For Long-Term Weight Loss In Young Adults With Intellectual Disabilities: Rationale And Design For A Randomized Trial., Lauren T. Ptomey, Jessica C. Danon, Delwyn Catley, Richard A. Washburn, Amy Bodde, Francisco J. Diaz, Brian C. Helsel, Anna M. Rice, Joseph R. Sherman, Madison Koester, Walker S. Mckinney Ph.D., Joseph E. Donnelly

Manuscripts, Articles, Book Chapters and Other Papers

Young adults with intellectual disability (ID) are an underserved population with a high prevalence of obesity, obesity-related health conditions, and reduced ability to complete instrumental and basic activities of daily living (I/ADLs). After leaving the structured environment of public school, many young adults with ID spend more time at home or in day programs, begin living more independently, or enter the workforce. These transitions may increase reliance on fast or processed foods and reduce opportunities for physical activity, contributing to accelerated weight gain. Previous research has demonstrated clinically meaningful short- and long-term weight loss (18-24 months) in adults with mild-to-moderate …

Are We Winning At Twinning? Persistent Cni Use In Identical Kidney Transplants., Nicholas S. Herrera, Shivani Wadnerkar, Diane M. Cibrik

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Calcineurin inhibitors (CNIs) revolutionized kidney transplantation by reducing acute rejection rates. Identical twin kidney transplantation is the only setting in which the allograft is immunologically indistinguishable from self, yet CNI use persists. We characterized CNI utilization across end-stage kidney disease etiologies and examined whether CNI exposure was associated with reduced rejection or improved death-censored graft survival (DCGS).

METHODS: We performed a retrospective cohort study using scientific registry of transplant recipients data (January 2000-August 2025). Among 255 adult identical twin kidney transplant recipients, discharge regimens were categorized by CNI use; Firth penalized Cox regression was the primary method for 10-year …

Global Disparities In Neurosurgical Literature: A Narrative Review Of Underrepresentation Of Low- And Middle-Income Countries And Pathways To Research Equity, Tirath Patel, Naveed Ahmad, Abbas Hussain, Bisma Faraz, Amna Binte Naeem, Urooj Sheraz, Laiba Noor, Saleha Khan, Muhammad Seerat Ali, Nikhilesh Anand

School of Medicine Publications

The global neurosurgical literature is dominated by high-income countries, with low- and middle-income countries (LMICs) contributing minimally despite bearing the most significant share of the neurosurgical disease burden. Underrepresentation limits equitable knowledge dissemination and the relevance of guidelines. The objective of this review was to assess neurosurgical publication disparities, identify deterrents to LMIC participation, and outline initiatives that foster equity and inclusion in research. This narrative review synthesized evidence on global disparities in neurosurgical literature through a structured search of PubMed, Scopus, and Google Scholar (2010–2025). Eligible studies examined research output, authorship trends, publication barriers, or equity initiatives. Findings mapped …

Timing Of Middle Meningeal Artery Embolization And Surgery: Analysis Of The Embolise Trial, Maxim Mokin, Jared Knopman, Jason M. Davies, Ameer E. Hassan, Robert E. Harbaugh, Alexander Khalessi, Jens Fiehler, Elad I. Levy

School of Medicine Publications

Background: The EMBOLISE trial (The Embolization of the Middle Meningeal Artery With Onyx Liquid Embolic System in the Treatment of Subacute and Chronic Subdural Hematoma) demonstrated that middle meningeal artery embolization as an adjunct to surgical drainage reduces recurrence of symptomatic subacute and chronic subdural hematomas. We performed a subgroup analysis of the EMBOLISE surgical cohort to determine how the timing of embolization relative to surgery impacted various outcomes.

Methods: We performed a post hoc subgroup analysis to examine the association of the timing of embolization relative to surgery with the primary end point (hematoma reoperation within 90 days), secondary …

Quantitative Imaging Of Pyruvate Metabolism In A Patient With Anaplastic Thyroid Cancer, James A Bankson, Joshua S Niedzielski, Collin J Harlan, Yunyun Chen, Christopher M Walker, Philip L Lorenzi, Lin Tan, Vikas Kundra, Matthew E Merritt, Mukundan Ragavan, Dawid Schellingerhout, Renjie He, Yao Ding, Sahana Datar, Qing Wang, Christine B Peterson, Clifton D Fuller, Vlad C Sandulache, Stephen Y Lai

Faculty, Staff and Students Publications

Purpose: Magnetic resonance imaging using hyperpolarized (HP) [1-13C]-pyruvate enables assessment of pyruvate metabolism in vivo and offers new insight into metabolic changes in response to cancer therapy. Widely used semi-quantitative metrics of pyruvate metabolism can be affected by physiological factors that are extrinsic to intracellular metabolism. A validated pharmacokinetic (PK) model for analysis of intracellular pyruvate metabolism is needed to enhance the accuracy of quantitative metrics and clinical translation of metabolic MRI using HP pyruvate.

Methods: A PK model with two physical compartments and two chemical pools was developed to analyze the conversion of labeled pyruvate into lactate in vitro. …

De Novo Complex Genomic Rearrangement Spanning 2q31.1 In A Proband With Congenital Malformations: Genotype-Phenotype Correlation And Development Of A Cgr Detection Pipeline, Katherine Helle, Jesse D Bengtsson, Mira Gandhi, Christopher M Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N Jhangiani, Fritz J Sedlazeck, Seema R Lalani, Neil A Hanchard, Claudia M B Carvalho

Faculty, Staff and Students Publications

The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in-house CGR detection pipeline pairing genome sequencing (GS) structural variant calls with read-depth data revealed a de novo complex genomic rearrangement (CGR) spanning 2.7 Mb across 2q31 characterized by a series of duplications and triplications including the HOXD gene cluster. The genomic structure was assembled by applying combined methodologies including short-read and long-read GS, and optical genome mapping (OGM). This in-house …

Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione

Faculty, Staff and Students Publications

Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.

Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.

Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …

Future Prospects Of Pediatric Lung Transplantation, Ernestina Melicoff, David Moreno Mcneill, Christian Benden

Faculty, Staff and Students Publications

This special issue of the Journal of Heart Transplantation Open is dedicated to Pediatric Thoracic Transplantation. The authors will discuss subjects related to pediatric lung transplantation such as access to donor organs, allograft dysfunction and role of functional status in outcomes.

Rates Of, Reasons For, And Reactions To Discontinuation Of Glp-1 Receptor Agonists: A Narrative Review, Henry D Heisey, L Parker Gregg, Christopher D Verrico, Dennis T Villareal, Terri L Fletcher

Faculty, Staff and Students Publications

GLP-1RAs are increasingly used for their glucose-lowering and weight-management effects, but many patients discontinue them. In this narrative review we aim to review real-world, quantitative and qualitative GLP-1RA discontinuation, adherence, and persistence evidence as it aligns with an established conceptual framework for understanding medication adherence in noncommunicable chronic disease. Many inconsistencies exist in how discontinuation, adherence, and persistence are studied in this literature. Few qualitative studies have focused on discontinuation of GLP-1RAs. Quantitative approaches often focus on medication-related factors and more superficial aspects of socioeconomic and condition-related factors. Very few studies encompass all 5 dimensions of the medication adherence conceptual …

The Crisis Of Adolescent Firearm Reinjury: A 14-Year Retrospective Cohort Analysis, Kristen L Mueller, Daphne Lew, Nicholas Szoko, Zoe M Miller, Taylor Kaser, Benjamin P Cooper, Christopher Behr, Lindsay Clukies, Joseph Finney, Marguerite W Spruce, Lindsay M Kranker, Michael A Mancini, Melissa Kroll, Erin G Dawson, Matt Vogel, Rachel M Ancona, Vicki Moran, Melik Coffey, Kateri-Chapman Kramer, Doug J E Schuerer, Elvin Geng, Megan L Ranney, Randi E Foraker

Faculty, Staff and Students Publications

Background: Firearm injuries are the leading cause of death among US adolescents. Adolescents are among the highest risk, and those with nonfatal injuries experience high rates of reinjury. Identifying factors that predict firearm reinjury among adolescents may support tailored prevention strategies. This study sought to identify factors associated with firearm reinjury among adolescents who presented with acute nonfatal firearm injury in the St. Louis, Missouri region.

Methods: We conducted a multicenter observational cohort study of youth aged 15 to 17 years presenting to 2 adult and 2 pediatric trauma centers from 2010 through 2023. We collected data on firearm-injured patient …

Clingen Variant Curation Interface Workshops: Training Variant Scientists On An International Platform, Deborah I Ritter, Mark Mandell, Christine Preston, Marina Distefano, Sahia M Bryant, Nadia Carstens, Rolanda S Julius, Aimé Lumaka, Madhuri Hegde, Joanne Ngeow, Joannella Morales, Matt W Wright, Heidi L Rehm, Sharon E Plon

Faculty, Staff and Students Publications

Purpose: The Clinical Genome Resource (ClinGen) is creating a central resource of clinically relevant genetic knowledge to improve genomic medicine. Dissemination and use of the ClinGen Resource is essential to ensure broad community uptake. We report on experiences and sustained use of ClinGen tools through engaging international genetics groups based in India, Africa, and Singapore in variant classification training workshops using the ClinGen Variant Curation Interface (VCI).

Methods: We developed pre- and postworkshop questionnaires and analyzed ClinGen tool use following the workshops. We evaluated organizational aspects and costs of creating a dedicated ClinGen VCI instance for each workshop.

Results: The …

Increased Risk Of Sarcomas In Children With Congenital Anomalies: Findings From The Genetic Overlap Between Anomalies And Cancer In Kids (Goback) Registry Linkage Study, Russ Wolters, Ji Yun Tark, Tiffany M Chambers, Tania A Desrosiers, Michael E Scheurer, Charles Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Yao Yu, Chad D Huff, Sharon E Plon, Philip J Lupo, Jeremy M Schraw

Faculty, Staff and Students Publications

Background: Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated.

Procedure: We obtained data on maternal and perinatal characteristics, congenital anomalies, and pediatric sarcoma diagnoses for all live births in nine states. We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95% confidence interval (CI) of sarcoma (overall and by subtype) among children with non-syndromic congenital anomalies. We considered all non-syndromic …

Linkage And Alcohol Use Outcomes Of A Screening, Brief Intervention, And Referral To Treatment (Sbirt) Program For Alcohol-Related Liver Disease: A Retrospective Cohort Study From India, Abhishek Ghosh, Nipun Verma, Harsh A Thappa, Surabhi Gupta, Renjith R Pillai, Shalini Naik, Arka De, Madhumita Premkumar, B N Subodh, Sunil Taneja, Debasish Basu, Ajay Duseja

Faculty, Staff and Students Publications

Background: Alcohol-related liver disease (ArLD) and alcohol use disorder remain undertreated. Collaborative care embedding addiction services within medical settings have shown promise.

Aim: We evaluated the linkage and alcohol use outcomes of an SBIRT-based collaborative care clinic at a public sector hospital in India, examining rates of linkage to addiction treatment, alcohol use outcomes at follow-up, and factors associated with successful linkage.

Methods: A retrospective cohort study of 500 consecutively enrolled patients was conducted over January 2023-July 2024. Patients with ArLD were systematically screened using the Alcohol Use Disorders Identification Test (AUDIT) and risk-stratified into brief advice, brief counselling, or …