Digital Commons Network^™

Implementation Readiness For National Cancer Survivorship Care Standards, Christiane J. El Khoury, Meera Gupta, Maryem Shirzadi, Heidi Dowst, Martha Mims, Maysa Abu-Khalaf, Hoda Badr

Kimmel Cancer Center Faculty Papers

IMPORTANCE: Cancer survivorship care is a growing public health priority, yet delivery remains variable across health systems. The National Standards for Cancer Survivorship Care provide a framework for high-quality care, but little empirical evidence exists regarding health system readiness to implement these standards in routine practice.

OBJECTIVE: To assess implementation readiness for the National Standards for Cancer Survivorship Care and identify perceived barriers to implementation.

DESIGN, SETTING, AND PARTICIPANTS: This real-time Delphi survey study was conducted from January to March 2025 at a National Cancer Institute-designated comprehensive cancer center. Participants were multidisciplinary experts involved in cancer survivorship care delivery, care …

Development Of A Structurally Distinct Topbp1 Inhibitor That Enhances Parp Blockade And Reverses Osimertinib Resistance, Fang-Tsyr Lin, Shwu-Jiuan Lin, Kang Liu, Yang Xiao, Lidija A Wilhelms Garan, Helena Folly-Kossi, Weei-Chin Lin

Faculty, Staff and Students Publications

Therapeutic resistance remains a major challenge in cancer treatment, driven by compensatory signaling and stress response pathways that sustain tumor survival. Topoisomerase IIβ-binding protein 1 (TopBP1), a multifunctional scaffold protein with nine BRCT domains, integrates replication stress signaling with oncogenic networks and is frequently overexpressed in aggressive cancers. Its BRCT7/8 domains mediate critical interactions with E2F1, mutant p53, MIZ1, PLK1, and CIP2A, making TopBP1-BRCT7/8 an attractive therapeutic target. Using docking-guided screening and structure-activity relationship–driven optimization, we developed CS18 as a potent and selective BRCT7/8 inhibitor that disrupts oncogenic TopBP1 complexes without interfering with DNA replication. CS18 suppresses MYC transcriptional programs, …

An Online Epilepsy Self-Management Tool For Patients With Epilepsy: A Formative Usability Study, Katarzyna Czerniak, Ross Shegog, Refugio Sepulveda, Robert Addy, Youngran Kim, Sahiti Myneni, Alejandra Garcia-Quintana, Kimberly Martin, David M Labiner

Faculty, Staff and Student Publications

Background: Epilepsy is a serious chronic neurological condition with no permanent cure. Continual self-management is important to mitigate seizure frequency and optimize quality of life in people with epilepsy who have greater disparities in accessing epilepsy care. The Management Information & Decision Support Epilepsy Tool (MINDSET [UTHealth, University of Arizona, and Radiant Digital]) was developed to enhance accessibility to epilepsy self-management (ESM) assessment and treatment. The purpose of this formative usability pilot study was to assess the user experience and functionality of MINDSET 2.0, an enhanced cross-platform online version of MINDSET, among a sample of patients with epilepsy prior to …

Childhood Cancer Predisposition Study: A Prospective Registry And Biorepository Protocol, Melissa R Perrino, Suzanne P Macfarland, Luke Maese, Jennie Vagher, Junne Kamihara, Surya Rednam, Philip J Lupo, Garrett M Brodeur, Joshua Schiffman, Lisa Diller, Lauren Desrosiers-Battu, Sharon E Plon, Kim E Nichols, Samuel L Volchenboum, David Malkin, Anita Villani, Christopher C Porter

Faculty, Staff and Students Publications

Introduction: Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to develop cancer. There are over 100 genes associated with cancer predisposition syndromes (CPSs) and greater availability and acceptability of genetic testing in the last decade has facilitated their recognition in childhood. However, individually, each of these CPSs is rare, impeding robust research and advancement of clinical care. Once a specific CPS is …

Recognition Of Autism Characteristics In Females: An Examination Of Stakeholders, Laurel Lyn Bishop

Theses and Dissertations

Autism is a neurodevelopmental communication disorder, characterized by differences in social communication, attention, interests, and sensory perception. Diagnostic criteria have historically applied to males, but clinical diagnostic criteria beginning in 2022 now include slight differences in traits comprising the female phenotype. Until recently, autistic females may be missed by the professional and education community or diagnosed later than males. Like their autistic male counterparts, they face an increased risk of suicidal ideation, but they also face more difficulties in peer relationships, academic problems, and increased anxiety and depressive symptoms, but may not get supports. School-age girls spend their days with …

Sex-Aware Causal Inference Assessment Of The Immune System In Complex Neurodegenerative Diseases, Frida Lona-Durazo, Ross P Byrne, Marc-Olivier Pilon, Michael D Greicius, Marie-Pierre Dubé, Michael E Belloy, Russell L Mclaughlin, Sarah A Gagliano Taliun

2020-Current year OA Pubs

Sex differences, in terms of prevalence, symptoms and disease progression, are established in the aetiology of complex neurodegenerative diseases, including amyotrophic lateral sclerosis, Parkinson's disease and Alzheimer's disease, but the underlying biology driving these differences remains poorly understood. There is emerging evidence from genetic and functional analyses affirming the role of the immune system in such diseases, but a thorough assessment of sex differences in the link between the immune system and neurodegenerative diseases remains lacking. Here, we applied a robust causal inference approach, two-sample Mendelian randomization, to evaluate the causal effect of immune-related protein levels on three neurodegenerative diseases …

Decision-Making Criteria In Polygenic Embryo Screening: A Survey Of Reproductive Medicine Physicians, Rémy A Furrer, Aayushi Gandhi, Dorit Barlevy, Shai Carmi, Todd Lencz, Stacey Pereira, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Polygenic embryo screening (PES) examines embryos for their genetic likelihood of developing complex conditions and traits. The commercialization of PES places reproductive endocrinologists and infertility specialists (REIs) as the primary decision-makers in its use, despite professional guidelines cautioning that PES is not ready for clinical use.

Methods: This survey examines how 152 US REIs perceive and approach potential clinical decision-making scenarios regarding the use of PES.

Results: REIs were more likely to offer PES for medical conditions (up to 62% for cancer) than for traits (eg, 0% for skin color, 10% for body mass index). When evaluating 11 potential …

All-Cause And Cause-Specific Mortality In Gambling Disorder: Evidence From A Nation-Wide Matched And Sibling Cohort Study In Taiwan, Yang-Chieh Brian Chen, Chih-Wei Hsu, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Edward Chia-Cheng Lai

Children’s Nutrition Research Center Staff Publications

Background and aims: Gambling disorder (GD) has been linked to suicidal ideation and suicide deaths; however, evidence on all-cause and cause-specific mortality-particularly in Asian populations-remains limited. Using a retrospective cohort study based on nationwide matched and sibling cohort, we investigated all-cause and cause-specific mortality risk in patients with GD.

Design, setting and participants: A retrospective cohort study was conducted using 2000-2022 data from Taiwan's National Health Insurance Research Database. A cohort of 961 individuals diagnosed with GD was identified. An age- and sex-matched control cohort (n = 3,844) and an unaffected sibling cohort (n = 675) were constructed. Cumulative survival …

Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Marisa E Hilliard, Charles G Minard, Samantha A Carreon, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson

Faculty, Staff and Students Publications

Objective: Transition between pediatric and adult health care is complex, with high risk for loss to follow-up and suboptimal health outcomes for young adults with type 1 diabetes. This trial evaluated the efficacy of DiaBetter Together, a 12-month strengths-based behavioral intervention delivered by trained peer mentors. The intervention aimed to help young adults navigate the transfer process to promote optimal glycemic outcomes, shorten time to adult care follow-up, and improve psychosocial outcomes.

Research design and methods: Using a single-site randomized clinical trial design, we compared the 12-month intervention to usual care among n = 100 young adults aged 17-25 years …

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 …

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 …

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 …

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 …

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, …

Acute Opioid Responses Are Modulated By Dynamic Interactions Of Oprm1 And Fgf12, Paige M Lemen, Alexander S Hatoum, Arpana Agrawal, Et Al.

2020-Current year OA Pubs

We generated time-series data for 105 morphine- and naloxone-related traits across ~700 BXD mice (64 diverse strains for both sexes) for 3 hr after a single morphine injection. Variations in responses were mapped using genome sequencing-based genotypes. The locomotor responses to morphine mapped to the µ opioid receptor gene (

Under Pressure: Negative Urgency And Disordered Eating In The Context Of Parental Differential Support, Hamide Gozu, Jenna K. Rieder

College of Humanities and Sciences Faculty Papers

Disordered eating behaviors are prevalent in emerging adulthood and may be shaped by family dynamics. This study examined associations among maternal and paternal differential support, weight-shape concerns, and binge eating and compensatory behaviors in emerging adulthood, while testing the moderating role of negative urgency. Participants were 517 emerging adults from across the United States (ages 18-29; M = 22.60, SD = 3.81; 76% female). Participants reported on parental differential support, weight-shape concerns, eating behaviors, and negative urgency. Using moderated-mediation analyses, we found that weight-shape concerns mediated associations between differential support and eating behaviors. Unequal maternal support and paternal favoritism showed …

The Best Of Both Worlds: How Combining A Large Language Model And A Rule-Based Algorithm Makes Catheter-Associated Urinary Tract Infection Surveillance More Efficient, Joshua Nordman, Claire Najjuuko, Nicholas Jeschke, Rachael E Snyders, Maria Cristina Vazquez Guillamet, Hilary Babcock, Patrick Reich, Andrew Atkinson, Jonas Marschall, Abby Sung, Et Al.

2020-Current year OA Pubs

BACKGROUND: Catheter-associated urinary tract infection (CAUTI) surveillance is critical for patient safety. Many healthcare systems use electronic algorithms to flag candidate infection events but still require manual chart review to confirm CAUTI cases. We evaluated the use of a large language model (LLM) to enhance CAUTI surveillance.

METHODS: We analyzed 919 potential CAUTI cases flagged by the electronic surveillance algorithm at Barnes-Jewish Hospital from 2021 to 2024. These cases were previously classified as 291 CAUTIs and 628 non-CAUTIs by trained infection preventionists (IPs). Several approaches for applying the National Healthcare Safety Network (NHSN) CAUTI definition after extracting clinical data from …

Barriers To Recommendation Of Integrative Oncology Modalities In Supportive Care: A Mascc/Sio Survey, Alexandre Chan, Dalia Kagramanov, Reem Nasr, Chioma Asuzu, Ting Bao, Yin Ting Cheung, Jung Hye Kwon, Judith Lacey, Richard T. Lee, Maryam Lustberg, Beatrice M. Ohaeri, Santosh Rao, Enrique Soto-Perez-De-Celis, Claudia M. Witt, Ana M. Lopez

Kimmel Cancer Center Faculty Papers

PURPOSE: Integrative oncology (IO) modalities aim to improve the quality of life of persons with cancer, including strategies to manage treatment and disease-related symptoms. As evidence increases to include IO in supportive care, interest grows globally. Understanding barriers to IO recommendation is key to facilitating its uptake.

METHODS: Members of the Multinational Association of Supportive Care in Cancer (MASCC) and the Society for Integrative Oncology (SIO) were invited to complete an online survey in Fall 2023 assessing barriers to IO recommendation on a 5-point scale. Descriptive statistics assessed demographic data and general counts of scaled agreement, while logistic regression analysis …

Sexual Orientation And Burnout Among Emergency Medicine Residents, David Rudolph, Kirlos Haroun, Michael Gottlieb, Susan Farrell, Yvette Calderon, Kayla Iuliucci, Lea Moujaes, Blake Denley, P. Logan Weygandt

Department of Emergency Medicine Faculty Papers

IMPORTANCE: Burnout is highly prevalent among emergency medicine (EM) residents and is associated with negative outcomes for physician well-being and patient care. Emerging evidence suggests sexual minority trainees may be at increased risk, but differences within EM residency are not well characterized.

OBJECTIVE: To determine if burnout prevalence among EM residents differs by sexual orientation after adjustment for key confounders.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study included US resident physicians who took the 2024 American Board of Emergency Medicine In-Training Exam (ITE) postexamination survey and answered the question on sexual orientation.

EXPOSURE: Sexual minority status (heterosexual or straight and …

Neurofilament Light Chain (Nfl) As A Surrogate Outcome Measure For Gm2 Gangliosidoses., Kyriakos Martakis, Nicolas J. Abreu, Joshua J. Baker, Peter R. Baker Ii, Ian Billington, T Andrew Burrow, Mallory Factor, Taylor Fields, Cassandra Fields, Jennifer L. Gannon, Megan Grosso, Jorgji Kerthi, Marc C. Patterson, Brian J. Shayota, Michael Strupp, Lennard Strupp, Tatiana Bremova-Ert

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The GM2 gangliosidoses (GM2) are ultra-rare neurodegenerative disorders caused by deficient hexosaminidase A and/or B activity, leading to lysosomal GM2 ganglioside accumulation. Disease onset ranges from infancy to adulthood, with earlier onset associated with more rapid progression. Neurofilament light chain (NfL), a sensitive marker of axonal injury, has been extensively investigated as a biomarker for neurodegenerative disorders, including GM2.

METHODS: To evaluate its clinical utility as a biomarker for GM2, NfL was measured in patients with GM2 enrolled in a Phase 2b, multinational, rater-blinded study of levacetylleucine [NCT03759665], and in its open-label Extension Phase (EP).

RESULTS: Nineteen participants had …

Sitting Together: How Proximity Impacts The Classroom Success Of Undergraduate Women In Engineering, Cassandra M. Savukinas, Kayla D. Taylor, Ashley Lear

Feminist Pedagogy

Despite increased efforts, the engineering field remains predominantly male, particularly within higher education environments. Seating arrangements in the classroom for female undergraduate engineering students can greatly impact their comfort, participation, and academic performance in the classroom. In a 2025 study, it was found that male and female students have differing experiences related to comfort, participation, and academic performance when seated near other students of the same gender (Savukinas et al., 2025). Faculty can help students succeed by understanding how seating dynamics impact students’ experiences in the classroom. By allowing students to choose their own seating arrangements and creating interactions in …

Exploring Factors Associated With High Frequency Emergency Department Use By Children And Young People: A Retrospective Cohort Study, Akshay Kumar, Rebecca M Simpson, Kerryn Husk, Graham D Johnson, Chris Burton

Peninsula Medical School

Objective To explore drivers of high frequency emergency department (ED) use by children and young people, particularly among those attending EDs most often.Design A population-based retrospective cohort study using routinely collected linked healthcare data.Setting EDs in the Yorkshire and Humber region of the UK.Patients 288 545 children and young people aged 17 and under making at least one ED attendance in the year period 1 April 2016 to 31 March 2017.Main outcome measures ED attendances made by individuals in the year period.Results Of the 288 545 distinct children and young people making at least one attendance to an ED, 27 …

Subjective Sleep Disruption, Coping, And Anxiety And Related Symptoms In The Perinatal Period: Findings From A Longitudinal Study, Rebecca C Cox, Caroline P Hoyniak, Jack Samuels, Jonathan S Abramowitz, Gerald Nestadt, Eric A Storch, Rashelle Musci, Paul Nestadt, Lauren M Osborne, Mary Kimmel

Faculty, Staff and Students Publications

Study objectives: Anxiety is common during the perinatal period and is associated with adverse maternal and infant outcomes, highlighting a need to identify predictors of perinatal anxiety. Accumulating research implicates sleep disruption in perinatal anxiety and related symptoms, including obsessive-compulsive symptoms. We examined the associations among insomnia symptoms and sleep duration with perinatal anxiety, obsessive beliefs, and obsessive-compulsive symptoms and the moderating role of coping from pregnancy through postpartum.

Methods: A sample of 231 women (agemean = 32.97 ± 4.36 years; 74% white) completed interview and self-report measures of sleep, coping, perinatal anxiety, obsessive beliefs, and obsessive-compulsive symptoms in early …

Leveraging Health Information Exchange (Hie) Data To Demonstrate The Impact On Health Outcomes Of Community Based Organization Interventions: Case Studies Of Housing Placement And Medically Tailored Meal Program, Kevin Kramer, Harm Scherpbier, William Marella

College of Population Health Faculty Papers

Objective

Methods

Birth-Size Reference Charts For Normal Nursery Newborns Between 35.0 And 41.6 Weeks., Fu-Sheng Chou, Hung-Wen Yeh, Crystal Hsueh, Irene E. Olsen, Veeral N. Tolia, Reese H. Clark

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Current birth-size reference charts for nursery use may inaccurately categorize newborn size, impacting care. We aimed to develop new charts using data from uncomplicated newborns admitted to US nurseries.

METHODS: We analyzed de-identified data from newborns admitted to US normal newborn nurseries between 2021 and 2024. Statistical outliers were excluded, and gestational age was recorded in days. Birth weight, length, head circumference, and BMI models were developed by a randomly selected subset and validated by the remaining data. Proportions of newborns below the 10th percentile and above the 90th percentile were compared with the 2010 Olsen and 2013 Fenton …

Feasibility And Acceptability Of Automated Texts To Offer, Screen, And Enroll Patients In A Cancer Clinical Trial Financial Reimbursement Program: Mixed Methods Study, Ashley E Santaniello, Hena Patel, Sarah Milinski, Mohan Balachandran, Vivian Nguyen, E. Paul Wileyto, Robert H. Vonderheide, Dana Dornsife, Robert G. Johnson, Carmen E. Guerra

Student Papers, Posters & Projects

BACKGROUND: Out-of-pocket (OOP) costs pose a significant barrier to participating in cancer clinical trials (CCTs). Financial reimbursement programs (FRPs) that reduce the burden of OOP costs can support participation in CCTs if the information is readily available to participants at the time of enrollment. Prior studies have shown the importance and impact of FRPs, but despite improvements, significant barriers still remain.

OBJECTIVE: This study was designed to explore the feasibility and acceptability of automated texts designed to offer, screen, and enroll CCT participants in an FRP for OOP travel and lodging-related clinical trial costs.

METHODS: This study used a mixed …

Perceived Sensitivity Of Sensor-Based Digital Health Data: Qualitative Interview Study, Christine Deeney, Anika Sonig, Meghan E Hurley, Birkan Tunç, Eric A Storch, John D Herrington, Jennifer Blumenthal-Barby, Kristin Kostick-Quenet

Center for Medical Ethics and Health Policy Staff Publications

Background: Digital health tools are increasingly used in mental health care to passively collect patient data and analyze health status outside of clinical settings. While technologies such as digital phenotyping, affective computing, and computational behavioral analysis offer new insights into symptom manifestation in daily life, they generate large volumes of potentially sensitive data that raise significant data privacy concerns, requiring high levels of patient awareness and consent. Empirical research is lacking on stakeholder understandings toward the sensitivity of these data and expectations for data stewardship, perspectives that are critical for developing robust informed consent and data protection policies for digital …

Food As Medicine: Effects Of A Culinary Medicine Food-Demonstration On Medical Students' Nutrition Knowledge, Confidence, And Satisfaction: An Exploratory Pilot Non-Randomized Pre-Post Intervention Study., Niayesh Mardmomen, Cyrus Fatemi, Olivia K Smith, Michael B. Roberts, Farzaneh Daghigh

PCOM Scholarly Works

Background: Diet plays a central role in the development of chronic diseases, making nutrition-focused interventions a powerful tool for improving population health. However, substantial gaps in nutrition education persist in the U.S. medical education, and medical students frequently report receiving limited nutrition training despite its importance in patient care. Methods: A non-randomized pre-post intervention study with a one-month follow-up was conducted among osteopathic medical students. Participants attended a culinary medicine food-demonstration featuring five case-based topics and three chef-prepared recipes. Nutrition knowledge, satisfaction with nutrition education, confidence in nutrition counseling, and personal nutrition-related behaviors were assessed at baseline, immediately …

Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol

Faculty, Staff and Students Publications

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …

Medadl: High-Throughput Information Extraction Of Functional Status From Electronic Health Records To Advance Frailty Assessment In Older Adults, Sunyang Fu, Zhiyi Yue, Jennyly T Nguyen, Huipeng Liu, Jaerong Ahn, Vanessa Ramirez, Jude Des Bordes, Hongfang Liu, Min Ji Kwak, Nahid J Rianon

Faculty, Staff and Student Publications

Background: Functional status is essential for assessing frailty and planning care in older adults but is often under-documented in the structured fields of electronic health records. Manual chart review can capture functional status information but is labor-intensive and time-consuming. In this study, we developed and validated a scalable natural language processing (NLP) model to extract functional status information from unstructured electronic health record (EHR) notes.

Methods: This retrospective cohort study included 110 older adults seen at a geriatric osteoporosis clinic. A large language model-augmented symbolic NLP pipeline (MedADL) was developed to extract activities of daily living (ADL) and instrumental activities …