Digital Commons Network^™

Progesterone Receptors Drive Advanced Breast Cancer Phenotypes Including Circulating Tumor- And Stem-Like Cell Expansion In The Context Of Esr1 Mutation, Thu H. Truong, Noelle E. Gillis, Amy R. Dwyer, Rosemary J. Huggins, Kyla M. Hagen, Sai Harshita Posani, Nuri A. Temiz, Carlos Perez Kerkvliet, Ellie M. Piepgras, Julie H. Ostrander, Geoffrey L. Greene, Carol A. Lange

Department of Urology Faculty Papers

Endocrine therapy resistance remains a major challenge in the treatment of advanced estrogen receptor positive (ER+) breast cancer. This can be driven by acquired mutations in the estrogen receptor gene (ESR1), such as Y537S or D538G, that results in constitutive estrogen-independent ER activity. Progesterone receptors (PR) are important modifiers of ER activity, in part via direct binding. We previously showed that PR mediates expansion of cancer stem-like cell (CSC) populations. In this study, we sought to define whether PR function changes in the context of ESR1 mutations. PR readily interacted with wild type (WT), but not Y537S or D538G ERs. …

Versatile Smad2 And Smad3 Epitope-Tagged Mouse Models For Genomic Profiling Of Tgfβ Signaling: Uncovering Gdf9-Smad2/3 Targets, Zian Liao, Qian Zhang, Keisuke Shimada, Kaori Nozawa, Suni Tang, Masahito Ikawa, Diana Monsivais, Martin M Matzuk

Faculty, Staff and Students Publications

Transforming growth factor β (TGFβ) signaling pathways are integral for a plethora of biological processes. SMAD2 and SMAD3 are the principal transcriptional effectors of TGFβ superfamily ligands, yet quantitative, genome-wide mapping of their DNA-associated complexes under physiological contexts has remained limited due to the lack of specific, robust models. Here, we generated two versatile epitope-tagged mouse models in which endogenous SMAD2 and SMAD3 proteins are globally tagged with hemagglutinin (HA) and podoplanin (PA) sequences, respectively, enabling high-fidelity profiling of SMAD2 and SMAD3 binding across tissues. To demonstrate the broad application of our models, we exemplified the usage of our lines …

Developing Endpoints For The Cardiac Burden In Myotonic Dystrophy Type 1: A Workshop Report, Julia M Hartman, Samuel Carrell, William J Groh, Thomas A Cooper, Jordana Kron, Greg Hundley, Jennifer Jordan, Amy Ladd, Man Hung, Nicholas E Johnson

Faculty, Staff and Students Publications

Cardiac disease is a well-established manifestation of myotonic dystrophy type 1 (DM1), characterized by progressive cardiac conduction slowing with increased risk of atrial and ventricular arrhythmias, heart block, and sudden cardiac death. Multiple disease modifying therapies are in clinical trials for DM1 and show promise in improving skeletal muscle weakness and myotonia. Testing the effects of these medicines, or others, in the heart is of critical importance, but requires identification of endpoints of cardiac function that accurately reflect the state of DM1 cardiac disease. To better define cardiac endpoints, the Myotonic Dystrophy Clinical Research Network (DMCRN) and the Myotonic Dystrophy …

Multi-Organ Physiologic Deficits During Exercise Identify Clinical And Molecular Predisposition To Heart Failure With Preserved Ejection Fraction, Isabela Landsteiner, Lindsey K Stolze, Tess E Peterson, Andrew Perry, Phillip Lin, Quanhu Sheng, Shilin Zhao, Kaushik Amancherla, Michael Y Mi, Takenori Ikoma, Laura P Cohen, Ilya Giverts, Joseph Campain, Joao A C Lima, Wendy S Post, Kent D Taylor, Robert Gerszten, Stephen S Rich, Russell Tracy, Peter Durda, Alexis C Wood, Rajeev Malhotra, Jerome I Rotter, Clary Clish, Matthew Nayor, Eric R Gamazon, Ravi V Shah, Gregory D Lewis

Faculty, Staff and Students Publications

Background: Exercise unmasks limitations in multi-organ system reserve capacity characteristic of heart failure with preserved ejection fraction (HFpEF). However, the metabolic and genetic underpinnings of exercise deficits, and their cumulative contribution to HFpEF severity and prognosis, remain incompletely understood.

Methods: We used invasive cardiopulmonary exercise testing (iCPET), metabolite profiling, and genomics to simultaneously characterize seven exercise physiologic deficits in HFpEF patients: reduced exercise stroke volume and heart rate, steep pulmonary capillary wedge pressure/cardiac output (PCWP/CO) slope, elevated pulmonary vascular resistance, pulmonary mechanical limitation to exercise, impaired peripheral oxygen extraction, and obesity-related exaggerated metabolic cost of initiating exercise. We first mapped …

Structure-Preserving Multivariate Hypothesis Testing For Mass Spectrometry Imaging And Single-Cell Data, Keziah E Liebenberg, Erin Craig, Robert Tibshirani, Livia S Eberlin

Faculty, Staff and Students Publications

Motivation: Mass spectrometry imaging (MSI) and single-cell RNA sequencing (scRNA-seq) offer high-resolution views into tissue and cellular heterogeneity. However, conventional statistical analyses often treat sub-measurements (pixels or cells) as independent, ignoring their nested origin from individual samples. This assumption inflates the effective sample size, increases false discoveries, and undermines biological interpretation. Pixel- or cell-level averaging avoids this but sacrifices spatial or cellular resolution.

Results: We evaluated block-SAM on both simulated and real-world datasets. In DESI-MSI data from kidney, lung, and ovarian tumors, block-SAM consistently identified fewer-but more reliable-differential features compared to traditional-SAM. For example, in the kidney dataset, traditional-SAM identified …

La Dolce Vita Or The American Way: A Comparative Study Into The Italian And American Healthcare Systems Through An Analysis Of Total Knee Replacements, James (Jim) Mcmurray '26

Honor Scholar Theses

This thesis presents a comparative study of the Italian and the American healthcare systems, using Total Knee Replacements (TKRs) as a standardized metric to evaluate the health policy, financing, and patient outcomes. Despite the United States spending over $10,000 more per capita on healthcare than Italy, American life expectancy is 5 years shorter than Italian life expectancy. Through a mixed-methods analysis of data from the American Joint Replacement Registry (AJRR), the Programma Nazionale Esiti (PNE), the Registri Italiani di ArtoProtesi (RIAP), and the HCUPnet (AHRQ) database, this research identifies multiple disparities throughout the system. Key findings in this thesis include …

Cardiovascular Adaptation To Whole-Body Vibration Exercise In Obese Young Adults: A Systematic Review, Meta-Analysis, And Exploratory Analysis Of Sex Differences, Rafiu Okuneye, Abdulkareem Taiwo, Fatai Akinola Apalara, Okechukwu Kingsley Oforka, Isaiah Whenayon Ajoseh, Ogar Emmanuel Ekawu

Indonesian Journal of Research in Physical Education, Sport, and Health

Background: Obesity is strongly associated with hypertension and autonomic dysfunction. Whole-body vibration exercise (WBVE) has been proposed as a low-impact intervention for improving cardiovascular function in obese adults, but sex-specific responses remain unclear. Objective: This study aimed to evaluate the effects of whole-body vibration exercise on blood pressure, autonomic function, and cardiac output in adults with obesity, and to explore potential sex differences in cardiovascular adaptations. Methods: We conducted a systematic review and meta-analysis of randomized controlled trials and quasi-experimental studies examining the effects of WBV on systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate variability (HRV), and …

Dietary Patterns And Nutritional Status In Soccer Athletes: A Cross-Sectional Study From An Ergonomic Perspective, Rina Mayangsari, Ravi Masitah

Indonesian Journal of Research in Physical Education, Sport, and Health

Background: Normal nutritional status has been established as one of the principal determinants in an athlete's performance. Dietary quality plays a critical role in optimizing athletes' physical fitness and performance outcomes. Objective: To examine the associations between dietary patterns on the MacPersona System and nutritional status of soccer players (energy, protein, et cetera, fat, and carbohydrates). Methods: A cross-sectional quantitative study was conducted involving 21 soccer players (total sampling). Dietary patterns were assessed using a validated Semi-Quantitative Food Frequency Questionnaire (SQ-FFQ). Nutritional status was measured using Body Mass Index(BMI) based on anthropometric data. The chi-square test was used for statistical …

Emergency Care Outside Of The Four Walls Of The Emergency Department, Judd E. Hollander

Department of Emergency Medicine Faculty Papers

No abstract available

The Ki-67 Proliferation Index And Recurrence Risk Of Intracranial Meningioma: A Multicenter, Retrospective Cohort Study Of 5,050 Patients, Christian Mirian, Lasse Rehné Jensen, Tareq A Juratli, Andrea Daniela Maier, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Aria Jamshidi, Ricardo Komotar, Michael Ivan, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, David Scheie, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen

Faculty, Staff and Students Publications

Purpose: The Ki-67 proliferation index (Ki-67 PI) has been associated with meningioma recurrence, yet its clinical utility remains debated. Whether Ki-67 PI provides prognostic information across subgroups defined by both WHO grade and extent of resection remains to be investigated.

Methods: We analyzed 5,050 patients with intracranial meningiomas from the international PERNS cohort (42 centers, diagnosed between 1989-2019) who underwent surgical resection without postoperative radiotherapy. Ki-67 PI prognostic accuracy was assessed up to 10 years postoperatively by using ROC analyses and estimating its association with the risk of recurrence.

Results: Results demonstrated that the prognostic value of Ki-67 PI differed …

Patient-Provider Communication Among Deaf English Users: Disparities And Implications For Cancer Screening, Ciara Luttrell

Undergraduate University Honors Capstones

Early detection is one of medicine's powerful tools; routine cancer screenings can help diagnose cancer early and enable immediate treatment. Cancer screening and prevention efforts have accounted for 4.75 million (80%) cancer deaths averted between 1975 and 2020 for five major cancer types (NIH, 2025). Nevertheless, this powerful tool is not shared equally. Many deaf adults who use English still experience barriers and disparities. Accordingly, the purpose of this study is to investigate how deaf English-using individuals in the United States interact with their healthcare providers and whether these interactions are associated with cancer screening interest among these populations. The …

Implementing Measurement-Based Care In Virtual Mental Health Services For Rural Veterans: Provider Insights From A Pre-Implementation Evaluation, Amanda Heeren, Kimberly Mccoy, Lindsey Fuhrmeister, Natalie Suiter, Jan A Lindsay, Chloe Hoang, Laura Marsh, John Fortney, Carolyn Turvey

Faculty, Staff and Students Publications

Background

Measurement-Based Care (MBC) uses repeated standardized psychological assessments to monitor treatment progress and guide clinical decision-making. Although MBC improves outcomes when results are discussed collaboratively, adoption across the Veterans Health Administration (VHA) remains below 50%, particularly in virtual and rural settings. This pre-implementation evaluation explored provider perspectives to inform development of a digital MBC workflow for rural tele-mental health settings.

Methods

Using the Alacrity Center’s Discover, Design, Build, and Test model and User Centered Design, we conducted a pre-implementation survey of mental health providers at a VHA Medical Center providing care to rural and highly rural Veterans in South …

Retracted: Idea Density And Grammatical Complexity As Neurocognitive Markers, Diego Iacono, Gloria C. Feltis

Department of Neurology Faculty Papers

The journal retracts the article titled “Idea Density and Grammatical Complexity as Neurocognitive Markers” [1], cited above. Following publication, concerns were brought to the attention of the Editorial Office regarding the presence of misnamed phrases and the accuracy of several references cited in this paper [1]. In accordance with the journal’s standard procedures, the Editorial Office and Editorial Board conducted an investigation that confirmed the presence of a misnamed phrase for ROSE model and significant number of non-existent references, which were determined to undermine the overall reliability of this study. In addition, the investigation identified indications of generative AI use …

Regulation Of Mitochondrial Ros By C15orf48 In A Basal Cell Subpopulation Contributes To Chemotherapy Resistance In Tnbc, Yan Jiang, Noor M Abdulkareem, Amanda L Rinkenbaugh, Yuan Qi, Steven W Wall, Xiaomei Zhang, Jiansu Shao, Sabrina Jeter-Jones, Shirong Cai, Faiza Baameur Hancock, Gloria V Echeverria, Jeffrey T Chang, Helen Piwnica-Worms

Faculty, Staff and Students Publications

Systemic neoadjuvant chemotherapy, often combined with immunotherapy, is the standard of care for early-stage, non-breast cancer susceptibility gene (BRCA)-mutant triple negative breast cancer (TNBC). However, up to 70% of patients retain residual disease after treatment, which is linked to recurrence and mortality within 5 years. To define mechanisms of resistance, we performed single-cell RNA sequencing on orthotopic TNBC patient-derived xenografts during a cycle of treatment with doxorubicin and cyclophosphamide (AC). Clustering identified four tumor epithelial cell populations, with basal cells enriched in residual tumors. These basal cells up-regulated C15ORF48, a paralog of the mitochondrial cytochrome c oxidase associated subunit FA4 …

Organ Procurement Organization Utilization Of Portable Hypothermic Oxygenated Machine Perfusion In Liver Transplantation: The First Us Experience, Christine E. Haugen, Muhammad Bilal Moeen-Ud-Din, Abdalla M. Hadhoud, Achintya Kaw, James R. Butler, James V. Guarrera, Sherry Quire, Ralph C. Quillin

Department of Surgery Faculty Papers

BACKGROUND: Advanced machine perfusion techniques have increased the use of hard-to-place organs, effectively changing the liver transplantation landscape. Liver transplantation machine perfusion has been driven largely by industry or individual transplant centers. We describe the implementation of a portable, organ procurement organization-initiated hypothermic oxygenated machine perfusion strategy for liver transplantation as a proof of concept.

METHODS: Surgeons and staff at a regional organ procurement organization (Indiana Donor Network) were trained to use and cannulate liver allografts using a portable hypothermic oxygenated machine perfusion platform. We evaluated all liver transplantations recovered and placed on hypothermic oxygenated machine perfusion (N = 18) …

Icdpicr2 Calculates Abbreviated Injury Scale Scores From Diagnostic Codes: Limitations For Traumatic Brain Injury Epidemiology, Joseph Piatt

Department of Pediatrics Faculty Papers

BACKGROUND: Many large data sets are limited in their usefulness for trauma epidemiology by a paucity of clinical data reflecting injury severity. Software packages have been developed for extrapolation of diagnostic codes to Injury Severity Scores commonly used in trauma research. The aim of this project was to evaluate one recently upgraded package, ICDPICR2.

METHODS: Data were taken from the Trauma Quality Improvement Program (TQIP) for 2022. The inclusion criterion was an Abbreviated Injury Scale (AIS) head score of 1 or greater. The ICDPICR2 package in R was used to calculate AIS body region scores and Injury Severity Scores (ISS) …

The History Of Women In Neuroradiology In North America From 1990 To The Present, Vijay M. Rao

Department of Radiology Faculty Papers

From 1990 to 2024, women neuroradiologists in North America have made tremendous progress in the areas of leadership, clinical innovation, research, education, diversity, equity and inclusion, and global outreach. This chapter begins with summaries of their key accomplishments in four broad domains, followed by short biographical sketches of numerous luminaries organized by leadership roles and areas of expertise, and ending with conclusions and future directions.

Nanog Proximity Proteomics Maps Neighborhood Hubs Linked To Mesenchymal Stem Cell Stemness And Chromatin Control, Kyoung-Jae Choi, Michail Tyryshkin, Harathi Jonnagaddala, Allan Chris M Ferreon, Marian Kalocsay, Josephine C Ferreon

Faculty, Staff and Students Publications

NANOG overexpression has been reported to reverse aging-associated decline in mesenchymal stem/stromal cell (MSC) function, but the molecular machinery engaged by NANOG in MSCs remains incompletely defined. Here, we applied APEX proximity labeling coupled with quantitative mass spectrometry to define the NANOG proximity interactome (proxeome) in human MSCs. Of 1040 quantified proteins, 828 were significantly enriched in the APEX-NANOG (H2O2 labeling) samples, consistent with a broad NANOG-centered neighborhood rather than a single stoichiometric complex. Enriched proteins encompass RNA-processing pathways (including splicing/RNP factors and selected m6A-related proteins), transcriptional coactivation and elongation control (Mediator and 7SK/P-TEFb regulators), chromatin repression/poising modules (Polycomb and …

Health Disparities For Pneumonia And Sinusitis Antibiotic Treatment In The Emergency Department, Joshua Saucedo, Leslie Hueschen, Amanda Nedved, Rana El Feghaly Md

Posters

Optimal antibiotic selection and duration are pillars of antimicrobial stewardship efforts. In our emergency department (ED), >80% of community acquired pneumonia (CAP) and acute bacterial rhinosinusitis (ABRS) are treated with first-line (FL) guideline-concordant antibiotics. Differences in care based on socioeconomic factors (race, ethnicity, language, and insurance status) have not been characterized. We sought to compare differences in antibiotic choice and duration for different socioeconomic factors, and analyze changes after quality improvement (QI) efforts. Multidisciplinary QI team used multiple Plan- Do-Study-Act cycles and was successful in improving antibiotic duration for CAP and ABRS from a baseline of 13% to 61% (January …

Empathy, Compassion Fatigue, And Resilience In Central Florida Firefighters And Ems Personnel, Lisa M. Correll

PhD in Education

The purpose of this nonexperimental quantitative study was to determine the relationship between empathy, compassion fatigue (CF), and resilience in firefighters and EMS personnel. Career firefighters and EMS personnel (N = 76) in Central Florida participated in an online survey that included demographic information, the Empathy Assessment Index, Professional Quality of Life Scale, and the Connor-Davidson Resilience Scale-10. Participants reported high perceptions of empathy (M = 4.11), resilience (M = 3.98), and quality of life (M = 3.28), but CF was perceived at low levels (M = 2.97). Empathy was not predictive of CF, indicating that overall empathy alone does …

Unpacking Developmental Programming: A Conceptual And Historical Analysis In The Context Of Dohad, Andrea Gretchev, Heide S. Temples, Gillian England-Mason, Deborah Dewey, Sara M. Sarasua, Christopher Farrell, Vivian Haley-Zitlin

Publications

The Developmental Origins of Health and Disease (DOHaD) paradigm posits that early environmental factors may influence a child’s development and long-term health outcomes. Developmental programming (DP) is central to this paradigm, whereby specific early life exposures during critical periods of development are associated with changes to physiological and metabolic pathways, potentially predisposing individuals to disease. However, no standard definition of DP exists, and various terms have been used to describe similar processes. This analysis aimed to develop a conceptual definition for DP to inform interdisciplinary research, education, and practice. Walker and Avant’s eight-step method was employed to analyze the literature, …

Transcultural Headache Medicine: A Framework For Integrating Cultural Contexts Into Headache Science And Care - A Call To Action From The International Headache Society., Mario F. P. Peres, Giancarlo Lucchetti, Homero Vallada, Ivy L. Riso, Georgia K. Westenhofen, Marcelo Moraes Valença, Juliana Ramos De Andrade, K. C. Brennan, Morris Levin, Tsubasa Takizawa, Zhao Dong, Yonggang Wang, Wanakorn Rattanawong, Henry Riyanto Sofyan, Massimo Leone, Freda Dodd-Glover, Hsiangkuo Yuan, Abdulrazaq Albilali, Taoufik Alsaadi, Leonardo Caixeta, Anna P. Andreou, Peter J. Goadsby, Antoinette Maassenvandenbrink, Sait Ashina, Rami Burstein, Patricia Pozo-Rosich, Fayyaz Ahmed, Shuu-Jiun Wang

Department of Jefferson Headache Center Papers and Presentations

Headache disorders are among the most disabling neurological conditions, affecting over 1.5 billion people globally. Despite advances in pharmacological therapies, major inequities persist due to underdiagnosis, undertreatment and limited access to effective care, particularly in low- and middle-income countries. Social determinants of health, including cultural meanings, language and health beliefs, are increasingly recognized as key drivers of disparities in burden, diagnosis and treatment outcomes. Traditional medicine, used by more than 80% of the global population, remains first-line care in many regions and continues to influence therapeutic choices in high-income settings. Major systems such as Ayurveda, Traditional Chinese Medicine, Unani and …

Comparison Of Levels Of Bmi, Stress, And Depression Of Women During The Prenatal Period Relative To Their Activity Levels, Kalayna King

Honors Theses

This study aimed to analyze the relationships between activity levels, Body Mass Index (BMI), stress levels, and depression symptoms in obese pregnant women in Arkansas. Two separate exercise intervention studies were combined in this analysis to ultimately give a sample size of 293 pregnant women who were randomized into standard of care group (control) and an exercise group (treatment/experimental) (n = 115 and n = 178, respectively). Women in the control groups were instructed to independently continue to follow the physical activity guidelines recommended by their gynecologist, whereas the experimental groups participated in a combination of aerobic and resistance exercise …

Une Com Spring Research Bulletin May 2026, Une Com Research & Scholarship

Osteopathic Student Research Symposia

Bulletin including abstracts from the University of New England College of Osteopathic Medicine’s 2026 inaugural Spring Research Update and Lightning Talk event.

Postmarketing Safety Of Bimekizumab For Hidradenitis Suppurativa: An Early Pharmacovigilance Analysis Using The United States Food And Drug Administration Adverse Event Reporting System, Simona A. Alomary, Nicole J. Baker, Temitayo Ogunleye, Susan C. Taylor

Student Papers, Posters & Projects

No abstract provided.

A Comparative Analysis Of Group Care: Trust, Professional Identity, And Health System Structure In The United Kingdom And The Netherlands, Samantha J. Kohlmann

Senior Theses

Group prenatal care (Group Care) has been associated with improved maternal experiences and select clinical outcomes, yet less is understood about how it functions within high-resource health systems and what mechanisms underlie its impact. This study examines how Group Care is implemented in the United Kingdom and the Netherlands, with particular attention to professional roles, relational dynamics, and health system context.

I employed a qualitative, comparative design and conducted four semi-structured interviews with midwife researchers involved in Group Care implementation in both countries. Data were analyzed thematically, with attention to cross-context similarities and differences.

Findings indicate that Group Care operates …

Phenome-Wide Analysis Of Copy Number Variants In 470,727 Uk Biobank Genomes, Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S Burren, Xiaoyin Li, Karyn Megy, Eleanor Wheeler, Qiang Wu, Santosh S Atanur, Marcin Karpinski, Douglas Loesch, Zammy Fairhurst-Hunter, Sri V V Deevi, Erin Oerton, Sean Wen, Xiao Jiang, Cecilia Salvoro, Jonathan Mitchell, Abhishek Nag, Ben Hollis, Amanda O'Neill, Jen Harrow, Stewart Macarthur, Sebastian Wasilewski, Sean O'Dell, Lifeng Tian, Katherine R Smith, Guillermo Del Angel, Margarete Fabre, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, Keren Carss

Duncan NRI Faculty and Staff Publications

Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Proteomic analyses validated functional associations of CNVs with nearby genes (cis-protein quantitative trait loci; cis-pQTLs)—with deletions and duplications typically associated with reduced and increased protein levels, respectively—and uncovered previously unknown protein–protein interactions …

The International Pediatric Headache Didactic Series: A Novel Curriculum Innovation, Sara Pavitt, Sruthi Ilangovan, Zoë Allen, Samantha L Irwin, Irene Patniyot

Faculty, Staff and Students Publications

Objectives: The International Pediatric Headache Didactic Series (IPHDS) was developed to provide free, comprehensive pediatric headache education to healthcare professionals worldwide. The objective of this study was to describe the design, implementation, and impact of this prospective educational intervention.

Background: Headache is the most common neurological symptom within the pediatric population. Yet, only nine fellowships are offered in pediatric headache medicine. Limitations in access to education and training are often cited as reasons for diagnostic and management barriers. To address this gap, the IPHDS was established in July 2022.

Methods: IPHDS is a recurring series consisting of 23 biweekly lectures. …

Confessions In Cases Of Child Physical Abuse-A Capnet Study, Margaret R Russell, Antoinette L Laskey, Henry T Puls, Suzanne P Starling, Joanne N Wood, Daniel M Lindberg, Nancy S Harper, Caitlin R Mcnamara, Angela N Bachim, Farah W Brink, Lori D Frasier, James D Anderst, Porcia Vaughn, Kristine A Campbell

Faculty, Staff and Students Publications

Objective: Prior research on confessions of physical abuse (PA) has explored mechanisms of injury. Little is known about conditions supporting a confession of abuse or how confessions may influence case outcomes.

Methods: This cross-sectional study of suspected PA in children aged < 10 years at 10 centers participating in CAPNET, a multicenter child PA research network, included children with in-person Child Abuse Pediatrics (CAP) consultations between February 2021 and December 2022 and excluded children without injury. Our focus was a confession of inflicted injury known to the CAP during clinical involvement. We compared child and clinical characteristics, out-of-home (OOH) placements, and arrests between cases with and without confessions. Multivariable models using generalized estimating equations (GEE) produced adjusted predicted probabilities (APP) clustering by CAPNET site.

Results: Confessions were known to CAPs in 115/4297 (2.7%) cases, with significant site variability. In a multivariable GEE model, confessions were more likely in cases with injuries with high specificity for abuse (APP 6.0% vs 1.6%, P < .001), near-fatality (APP 5.6% vs 2.3%, P < .001), and older children (APP 4.8% vs 2.5%, P = .025). OOH placements and arrests were more common in cases with confessions. CAP awareness of confessions, OOH placements, and arrests did not follow racial or ethnic patterns seen in the US child welfare system. Lower socioeconomic status was associated with OOH placements and arrests but not with CAP awareness of confessions.

Conclusions: Our findings highlight differences in case characteristics and outcomes where a confession is known to the CAP and raise questions about …

Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Ruairi Smith-Dewey, Angela Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst

Faculty, Staff and Students Publications

Background: The frequency of abusive head trauma (AHT) diagnoses by child abuse pediatricians (CAPs), especially regarding external evidence of head impact, has been questioned.

Objectives: To compare CAP diagnoses in subjects with subdural hemorrhage (SDH) across clinical presentations, including subgroups with and without external evidence of head impact. Additionally, we aimed to describe subjects with SDH and concomitant suspicious injuries (CSI) without evidence of head impact.

Participants and setting: Multicenter retrospective study including subjects < 24 months old with SDH.

Methods: Subjects were divided into groups based on clinical presentations: Ill SDH only, Non-ill SDH only, and SDH + CSI. Groups were subcategorized based on presence/absence …