Medicine and Health Sciences Commons^™

Beyond Short Microhomologies: Mismatch-Compatible Pol Θ-Mediated Dna Damage Repair, Yuzhen Li, Richard D Wood

Faculty, Staff and Student Publications

DNA polymerase θ (Pol θ)-mediated end-joining (TMEJ), one of several pathways for repairing DNA double-strand breaks, is traditionally thought to initiate via anchoring at short, consecutive, and perfectly matched microhomologies (MHs). Emerging evidence indicates that Pol θ can utilize MHs containing mismatches both in vitro and in vivo. This revised definition of MH provides a mechanistic explanation for a broader spectrum of Pol θ-dependent repair outcomes. Here, we summarize recent findings on the revised definition of MHs utilized by Pol θ, assess the applicability of this concept across species, and compare TMEJ with other (micro)hom(e)ology-mediated repair pathways. We explore how …

Spatial Profiling Reveals Distinct Molecular And Immune Evolution Of Mouse Lung Adenocarcinoma Precancers With Or Without Carcinogen Exposure, Bo Zhu, Muhammad Aminu, Pingjun Chen, Jian-Rong Li, Chuanpeng Dong, Chenyang Li, Yanhua Tian, Shao-Wei Lu, Hong Chen, Chenxi Ma, Xin Hu, Jie Ye, Andrew Y Liu, Beibei Huang, Frank R Rojas, Parra Cuentas Edwin Roger, Ou Shi, Monique B Nilsson, Alissa Poteete, Khaja B Khan, Wei Lu, Luisa M Solis Soto, Junya Fujimoto, Cara Haymaker, Ignacio I Wistuba, Zhubo Wei, Linghua Wang, Don L Gibbons, Ken Chen, Alexandre Reuben, Jason M Schenkel, John V Heymach, Chao Cheng, Jia Wu, Jianjun Zhang

Faculty, Staff and Student Publications

Tumor evolution involves genetic, transcriptional, and phenotypic alterations that shape cancer cell behavior and interactions with the microenvironment. While single‐cell technologies have advanced our understanding of this process, spatial dynamics remain incompletely characterized. Here, whole‐exome sequencing (WES), imaging mass cytometry (IMC), and spatial transcriptomics (ST) were integrated to study molecular evolution and immune responses in two lung adenocarcinoma (LUAD) mouse models: a genetically engineered model (129S4/Sv‐KrasLSL‐G12D, termed 129S4 K) and a carcinogen‐induced precancer model (129S4 U). Compared to 129S4 K, 129S4 U tumors exhibited higher mutational, neoantigen but lower copy number variation (CNV) burdens at matched developmental timepoints, consistent with …

Clinicopathologic And Molecular Characteristics Of High-Grade Appendiceal Mucinous Neoplasms, Ashlee N Seldomridge, Michael G White, Christopher Scally, Richard E Royal, Mark Routbort, Jbryan Iorgulescu, Michael J Overman, Sun Mi Lee, Wai Chin Foo, Melissa W Taggart, Yun Song, Paul F Mansfield, Keith F Fournier, John Paul Shen, Beth A Helmink

Faculty, Staff and Student Publications

Background: Although 2016 consensus guidelines defined high-grade appendiceal mucinous neoplasms (HAMNs) as a distinct histologic entity, their clinical course and optimal management remain poorly characterized. Comparative data with low-grade appendiceal mucinous neoplasms (LAMNs) are limited. This study aims to detail the clinical management and outcomes of patients with HAMN and those with LAMN.

Methods: This retrospective cohort study was conducted at a large academic cancer center. An internal database was queried to identify patients with LAMN or HAMN who underwent appendectomy between 2016 and 2024. Kaplan-Meier survival analyses were used to assess the impact of primary tumor type and peritoneal …

Pharmacogenetics Of Cyp3a5 In Pediatric Patients With Eosinophilic Esophagitis., Janelle R. Noel-Macdonnell Phd, Norah Almahbub, Erin C. Boone, Wendy Y. Wang, Dilyara Cheranova, Lisa Harvey, Valentina Shakhnovich, Rachel Chevalier

Manuscripts, Articles, Book Chapters and Other Papers

Eosinophilic esophagitis (EoE) is an atopic inflammatory disease with limited treatment options. Though swallowed topical steroids are commonly used, they are not effective in all patients. We investigated the presence of CYP3A4/5 and ABCB1 (P-glycoprotein) mRNA in esophageal tissue and its differential expression by genotype in pediatric patients. Esophageal tissue biopsies were obtained from pediatric patients undergoing standard of care endoscopy. Levels of CYP3A4, CYP3A5, and ABCB1 mRNA were measured using droplet digital PCR and compared across patients with and without EoE. Genotypes for common, clinically relevant CYP3A5 variants were evaluated in a cohort of individuals with and without EoE. …

Glomerular Transcriptome Analysis Reveals Endothelial Disturbances In Patients With Idiopathic Nephrotic Syndrome., Sarah K. Nelson-Taylor, Jonathan Troost, Courtney Giannini, Colin Bauer, Tarak Srivastava, Jarcy Zee, Markus Bitzer, Laura Barisoni, Llse Daehn, Julie A. Dougherty, William E. Smoyer, Bryce A. Kerlin, Audrey Fetsko, Imtiazul Islam, Xin Wang, Christine Sethna, Richard J. Johnson, Carmen De Lucas Collantes, Kazunari Kaneko, Gabriel Cara-Fuentes

Manuscripts, Articles, Book Chapters and Other Papers

RATIONALE & OBJECTIVE: Idiopathic nephrotic syndrome (INS) is viewed as a podocyte-specific disease. Recent reports indicate endothelial involvement, but its significance is unclear. Here, we investigated the relationship between the glomerular expression of selected genes relevant to endothelial health and clinical markers of disease severity.

STUDY DESIGN: A cross-sectional study.

SETTING & PARTICIPANTS: Patients with INS (n = 70 minimal change disease and n = 83 focal segmental glomerulosclerosis) from the Nephrotic Syndrome Study Network cohort study and 53 control participants. Validation studies, including animal and cell culture experiments, were performed.

EXPOSURE: Gene expression analysis from micro-dissected human glomeruli. The …

Shiny-Magec: A Bayesian R Shiny Application For Meta-Analysis Of Censored Adverse Events, Zihan Zhou, Zizhong Tian, Christine Peterson, Le Bao, Shouhao Zhou

Faculty, Staff and Student Publications

Accurate assessment of adverse event (AE) incidence is critical in clinical research for drug safety. While meta-analysis serves as an essential tool to comprehensively synthesize the evidence across multiple studies, incomplete AE reporting in clinical trials remains a persistent challenge. In particular, AEs occurring below study-specific reporting thresholds are often omitted from publications, leading to left-censored data. Failure to account for these censored AE counts can result in biased AE incidence estimates. We present an R Shiny application that implements a Bayesian meta-analysis model specifically designed to incorporate censored AE data into the estimation process. This interactive tool provides a …

Linkage Disequilibrium Score Regression Identifies Genetic Correlations Between Hepatocellular Carcinoma And Clinically Relevant Traits, Younghun Han, Vikram R Shaw, Jinyoung Byun, Aaron P Thrift, Catherine Zhu, Donghui Li, Rikita I Hatia, Robin Kate Kelley, Sean P Cleary, Anna S Lok, Paige M Bracci, Jennifer B Permuth, Roxana Bucur, Jennifer Knox, Jian-Min Yuan, Amit G Singal, Prasun K Jalal, R Mark Ghobrial, Yuko Kono, Dimpy P Shah, Mindie H Nguyen, Neehar D Parikh, Richard Kim, Hui-Chen Wu, Hashem El-Serag, Ping Chang, Yun Shin Chun, Jian Gu, Chad Huff, Asif Rashid, Lu-Yu Hwang, Alison P Klein, Saira A Khaderi, Ahmed O Kaseb, Kathrine A Mcglynn, Lewis R Roberts, Manal M Hassan, Christopher I Amos

Faculty, Staff and Students Publications

Hepatocellular carcinoma (HCC) mortality is increasing globally, partly due to the growing prevalence of nonviral liver diseases. Genome-wide association studies (GWAS) have identified genetic variants associated with HCC development. Leveraging GWAS summary statistics and linkage disequilibrium score regression (LDSR), we investigated disease co-development with hepatitis C virus-negative (HCV-negative) HCC to provide unique insights into HCC etiology and prioritize relationships for further causal inquiry. We utilized the LDSR statistical framework to estimate the genetic correlation and heritability between HCV-negative HCC with 901 epidemiologic, behavioral, and clinical traits from the United Kingdom Biobank (UKBB). First, we set the threshold for observed scale …

The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, David J Bridgett, Sheryl O Hughes, Matthew Broussard, Daniela Mccourt, Christina M Croce, Jennifer O Fisher

Faculty, Staff and Students Publications

Appetite self-regulation (ASR) among children is thought to have a fundamental role in shaping the development of healthy eating behaviors, dietary intake, and growth during childhood. Parallel to developmental frameworks for understanding "general" self-regulation among children, ASR has been described as involving children's use of "top-down" cognitive processes to moderate "bottom-up" biological drives around food approach and avoidance in the interest of achieving desired eating behaviors or outcomes. Whereas bottom-up ASR processes during early childhood are well characterized, particularly in the context of dysregulation and obesity risk, the role of top-down ASR processes in the development of healthy eating behaviors …

Evaluating Icd-11 Against Established Terminology Standards: A Dual-Framework Analysis, Kathy L. Giannangelo, Susan H. Fenton, Mary H. Stanfill

Faculty, Staff and Student Publications

Background

The healthcare world is evaluating and adopting the World Health Organization’s (WHO’s) International Statistical Classification of Diseases and Related Health Problems Eleventh Revision (ICD-11) for Mortality and Morbidity Statistics (MMS). The objective of this study is to evaluate the degree to which the ICD-11 Foundation and the ICD-11 MMS linearization adhere to accepted terminology practices.

Methods

This study consisted of an evaluation of the ICD-11 Foundation and ICD-11 MMS, using two established evaluation frameworks. Initial assessments were independently evaluated using publicly available documentation and designated one of five endpoints: meets criterion, partially meets criterion, does not meet criterion, criterion …

Classification Of Major Depressive Disorder Using Vertex-Wise Brain Sulcal Depth, Curvature, And Thickness With A Deep And A Shallow Learning Model, Roberto Goya-Maldonado, Tracy Erwin-Grabner, Ling-Li Zeng, Christopher R K Ching, Andre Aleman, Alyssa R Amod, Zeynep Basgoze, Francesco Benedetti, Bianca Besteher, Katharina Brosch, Robin Bülow, Romain Colle, Colm G Connolly, Emmanuelle Corruble, Baptiste Couvy-Duchesne, Kathryn Cullen, Udo Dannlowski, Christopher G Davey, Annemiek Dols, Jan Ernsting, Jennifer W Evans, Lukas Fisch, Paola Fuentes-Claramonte, Ali Saffet Gonul, Ian H Gotlib, Hans J Grabe, Nynke A Groenewold, Dominik Grotegerd, Tim Hahn, J Paul Hamilton, Laura K M Han, Ben J Harrison, Tiffany C Ho, Neda Jahanshad, Alec J Jamieson, Andriana Karuk, Tilo Kircher, Bonnie Klimes-Dougan, Sheri-Michelle Koopowitz, Thomas Lancaster, Ramona Leenings, Meng Li, David E J Linden, Frank P Macmaster, David M A Mehler, Susanne Meinert, Elisa Melloni, Bryon A Mueller, Benson Mwangi, Igor Nenadić, Amar Ojha, Yasumasa Okamoto, Mardien L Oudega, Brenda W J H Penninx, Sara Poletti, Edith Pomarol-Clotet, Maria J Portella, Joaquim Radua, Elena Rodríguez-Cano, Matthew D Sacchet, Raymond Salvador, Anouk Schrantee, Kang Sim, Jair C Soares, Aleix Solanes, Dan J Stein, Frederike Stein, Aleks Stolicyn, Sophia I Thomopoulos, Yara J Toenders, Aslihan Uyar-Demir, Eduard Vieta, Yolanda Vives-Gilabert, Henry Völzke, Martin Walter, Heather C Whalley, Sarah Whittle, Nils Winter, Katharina Wittfeld, Margaret J Wright, Mon-Ju Wu, Tony T Yang, Carlos Zarate, Dick J Veltman, Lianne Schmaal, Paul M Thompson, Enigma Major Depressive Disorder Working Group

Faculty, Staff and Student Publications

Major depressive disorder (MDD) is a complex psychiatric disorder that affects the lives of hundreds of millions of individuals around the globe. Even today, researchers debate if morphological alterations in the brain are linked to MDD, likely due to the heterogeneity of this disorder. The application of deep learning tools to neuroimaging data, capable of capturing complex non-linear patterns, has the potential to provide diagnostic and predictive biomarkers for MDD. However, previous attempts to demarcate MDD patients and healthy controls (HC) based on segmented cortical features via linear machine learning approaches have reported low accuracies. In this study, we used …

Impact Of Intra- And Interfractional Motion On The Dose Distribution And Urinary Adverse Events For Magnetic Resonance-Guided Prostate Cancer Radiotherapy, Shu Xing, Sarah Burleson, Xiao Tan, Qijie Huang, Nima Hassan-Razein, Chengcheng Gui, Ergys Subashi, Himanshu Nagar, Victoria Brennan, Neelam Tyagi

Faculty, Staff and Student Publications

Purpose: To evaluate the impact of intra- and interfractional motion on dose distribution and clinical outcome in prostate magnetic resonance (MR)-guided adaptive radiotherapy.

Methods: Seventy-six patients were treated with five-fraction stereotactic radiotherapy on a 1.5 T MR linear accelerator. Cine MR images were acquired during treatment and exported to a motion monitoring research package, to generate motion traces in the anterior-posterior (AP), superior-inferior (SI) and left-right (LR) directions. Planned dose distributions were shifted according to motion trace to reconstruct intrafraction motion-blurred dose. Intrafraction motion-blurred doses were deformably registered to fraction one motion-blurred dose to obtain interfraction accumulated dose. The impact …

Frontotemporal Network Interactions Causally Support Rapid Concreteness Judgments During Reading, Elliot Murphy, Oscar Woolnough, Cale W Morse, Xavier Scherschligt, Nitin Tandon

Faculty, Staff and Student Publications

Neurobiological models of conceptual processing have been limited in spatiotemporal resolution, and uncertainty remains about the causal role of specific regions in concept representation. We utilized intracranial recordings in human neurosurgical patients with epilepsy (n = 19) during a concreteness judgement paradigm of single word reading. Concrete concepts showed greater high-frequency activation across a frontal and ventrotemporal network, while greater activation for abstract words was found in lateral posterior middle temporal cortex. Intercortical communications, measured by high-frequency partial direct coherence, revealed bidirectional frontal and ventral plus lateral temporal interactions. Words occupying the middle range of the concreteness scale (e.g., "profit") …

Trends And Challenges: A 15-Year Review Of Imaging And Radiation Oncology Core Anthropomorphic Phantom Audits For Proton Therapy, Lian Duan, Hunter S Mehrens, Stephen F Kry, Jessica R L Lowenstein, Nadia Hernandez, Lucas B Acuna Scafati, Paige A Taylor

Faculty, Staff and Student Publications

Purpose: This study aims to analyze the trends in institutional performance on Imaging and Radiation Oncology Core (IROC) proton phantoms and to investigate the impact of treatment parameters on proton therapy delivery accuracy.

Materials and methods: We analyzed 402 IROC anthropomorphic phantom audits performed by 57 institutions worldwide between 2009 and 2024, including brain, head and neck (H&N), spine, prostate, lung, and liver phantoms. Dosimetric assessments included thermoluminescent dosimeters (TLDs) for dose comparison and gamma analysis of radiochromic film. The lung and liver phantoms were irradiated with simulated motion. Univariate analysis was performed to evaluate the relationships between treatment parameters …

Selective Deletion Of Fgfr1 In Agrp Neurons Impairs Energy Homeostasis Under High-Fat Diet In Mice, Daniel Shookster, Shea O'Connell, Patel Darshan, Taylor Landry, Wyatt Bunner, Zhiying Jiang, Qingchun Tong, Hu Huang

Faculty, Staff and Student Publications

Background: The global obesity crisis and the limited success of current treatments underscore the need to identify novel regulatory pathways. While central administration of α-Klotho exerts anti-obesity effects in rodents through AgRP neurons, the intracellular signaling mechanisms that mediate this process remain undefined.

Methods: To define the role of FGFR1 within the α-Klotho signaling pathway in AgRP neurons, we performed a targeted deletion of the receptor in adult mice using an AAV-mediated CRISPR/Cas9 system alongside transgenic models.

Results: Deletion of FGFR1 in AgRP neurons disrupted energy homeostasis, promoting weight gain induced by a high-fat diet. Electrophysiological recordings revealed that FGFR1 …

Quantifying Rate-Limiting Genetic Variation In Breast And Ovarian Tumourigenesis, Kathleen E Houlahan, Mahad Bihie, Yves Greatti, Julián Grandvallet Contreras, Daniel J Fulop, Gonzalo Lopez, Marc Williams, Hsin-Hsiung Huang, Peter Van Loo, Paul C Boutros, Kuan-Lin Huang

Faculty, Staff and Student Publications

Background: The number and type of genetic alterations required to initiate breast and ovarian cancer remain unclear. While germline BRCA1/2 carriers show markedly elevated cancer risk, it is uncertain whether point mutations or copy number alterations constitute the rate-limiting events of tumourigenesis.

Methods: We developed a statistical framework extending prior incidence-mutation models to estimate the minimal number and type of driver events required for cancer initiation. Somatic mutation and copy-number data from >3000 breast and ovarian cancers in TCGA and METABRIC were compared between germline BRCA1/2 carriers and non-carriers matched on subtypes. Results were validated through analyses of evolutionary timing …

Cd44v9 As A Therapeutic Target For Antibody-Drug Conjugate In Advanced Breast Cancer, Dileep R Reddy, Mckenna E Flynn, Yasuaki Anami, Zhaoxuan Yang, Jayden Aleman, Minji Seo, Kyoji Tsuchikama, Jennifer A Maynard, Naoto T Ueno, Jangsoon Lee

Faculty, Staff and Student Publications

Antibody-drug conjugates (ADCs) have revolutionized breast cancer therapy. HER2 is the only validated biomarker guiding ADC therapy in breast cancer. However, their clinical benefit remains confined to HER2- and TROP2-targeted therapies. Tumor heterogeneity and acquired resistance often limit durable responses, underscoring the need for novel, tumor-specific ADC targets. CD44 variant isoform 9 (CD44v9), a splice variant of the CD44 family, is largely absent in normal tissues but enriched in aggressive breast cancers, where it contributes to stemness, redox regulation, and therapy resistance. In this study, we developed a chimeric monoclonal antibody against CD44v9 (clone SUM24.1, IgG1) and conjugated it to …

Large Language Models For Bioinformatics, Wei Ruan, Yanjun Lyu, Jing Zhang, Jiazhang Cai, Peng Shu, Yang Ge, Yao Lu, Shang Gao, Yue Wang, Peilong Wang, Lin Zhao, Tao Wang, Yufang Liu, Luyang Fang, Ziyu Liu, Zhengliang Liu, Yiwei Li, Zihao Wu, Junhao Chen, Hanqi Jiang, Yi Pan, Zhenyuan Yang, Jingyuan Chen, Shizhe Liang, Wei Zhang, Terry Ma, Yuan Dou, Jianli Zhang, Xinyu Gong, Qi Gan, Yusong Zou, Zebang Chen, Yuanxin Qian, Shuo Yu, Jin Lu, Kenan Song, Xianqiao Wang, Andrea Sikora, Gang Li, Xiang Li, Quanzheng Li, Yingfeng Wang, Lu Zhang, Yohannes Abate, Lifang He, Wenxuan Zhong, Rongjie Liu, Chao Huang, Wei Liu, Ye Shen, Ping Ma, Hongtu Zhu, Yajun Yan, Dajiang Zhu, Tianming Liu

Faculty, Staff and Student Publications

With the rapid advancements in large language model technology and the emergence of bioinformatics-specific language models (BioLMs), there is a growing need for a comprehensive analysis of the current landscape, computational characteristics, and diverse applications. This survey aims to address this need by providing a thorough review of BioLMs, focusing on their evolution, classification, and distinguishing features, alongside a detailed examination of training methodologies, datasets, and evaluation frameworks. We explore the wide-ranging applications of BioLMs in critical areas such as disease diagnosis, drug discovery, and vaccine development, highlighting their impact and transformative potential in bioinformatics. We identify key challenges and …

Tuscan: Tumor Segmentation And Classification Analysis In Spatial Transcriptomics, Chenxuan Zang, Charles C Guo, Yaohong Wang, Peng Wei, Ziyi Li

Faculty, Staff and Student Publications

The identification of tumor cells is pivotal for understanding tumor heterogeneity and the tumor microenvironment. Recent advances in spatially resolved transcriptomics (SRT) have revolutionized the way that transcriptomic profiles are characterized and have enabled the simultaneous quantification of transcript locations in intact tissue samples. SRT is a promising alternative method to study gene expression patterns in spatial domains. Nevertheless, the precise detection of tumor regions within intact tissue remains a great challenge. A common strategy for identifying tumor cells is via tumor-specific marker gene expression signatures, which are highly dependent on marker accuracy. Another effective approach is through aneuploid copy …

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (Tsc) Family, Elena Tuller, Joshua A Samuels, Hope Northrup, Kate Richardson

Faculty, Staff and Student Publications

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in the brain, kidney, and heart, along with other complex clinical manifestations, including TSC-associated neuropsychiatric disorder (TAND). Development of genotype-phenotype correlations within TSC can aid clinicians in providing prognostic data and improve clinical management. We present here a multigenerational family who has a pathogenic variant in TSC2 displaying a severe renal phenotype.

Methods: A 23-year-old Caucasian male (Patient 1) was determined to have a molecularly confirmed diagnosis of TSC at approximately 2 months of age. The nonsense pathogenic variant (c.1372C>T (p.Arg458*)) in …

Development And Initial Testing Of An Online Security Prime Writing Intervention During Covid-19, Angie S Leroy, Andreas Weyland, Jade Kanemitsu, Arya Tsay-Jones, Vincent D Lai, E Lydia Wu-Chung, Nyla Vela, Amanda Perozo, Valentina I Maza, Sierra Wickline, Katherine Beach, Robert Suchting

Faculty, Staff and Student Publications

Background and objectives: During the COVID-19 pandemic, we tested the efficacy of a one-week online security prime (SP) writing intervention in reducing distress among 254 adults (60+ years and/or having an underlying health condition). The efficacy of writing interventions can depend on several factors. Attachment orientations, characterized by dimensions of anxiety and avoidance, reflect individuals' tendencies in how they seek proximity to and rely on others for support, and influence how people experience and regulate their emotions.

Design and methods: Participants were randomly assigned to one of three conditions: Security Priming (SP), where people wrote about what made them feel …

Defining A Quantitative Threshold For Adaptive Re-Planning Using A Percentile-Based Scoring System, Alexandra O Leone, Christine B Peterson, Anna Lee, Adam S Garden, G Brandon Gunn, Lauren L Mayo, Amy C Moreno, Steven J Frank, C David Fuller, Jay P Reddy, Karen Hoffman, Ivan Vazquez, Ming Yang, Joshua S Niedzielski, Laurence E Court, Thomas J Whitaker

Faculty, Staff and Student Publications

Background: Despite the frequent need for adaptive planning in head and neck proton therapy, no quantitative indicators have been identified to determine when a plan should be adapted. Here, we aimed to determine a quantitative threshold for the change in plan quality between the primary treatment plan and verification plans that correlates with the physician's decision to adapt.

Methods: Primary treatment and verification plans were extracted from the clinical treatment planning system for 167 patients who underwent intensity-modulated proton therapy for base of tongue, tonsillar, or oropharyngeal cancers, with and without nodal involvement, between 2016 and 2021. All plans were …

Optimizing Feasibility And Acceptability Of An Online Expressive Writing Intervention For Survivors Of Adolescent And Young Adult Cancer: A Pilot Randomized Trial Of Iterative Modifications And Outcomes, Eunju Choi, Yusi Aveva Xu, Celia Cy Wong-Meli, Michael E Roth, Yisheng Li, Qian Lu

Faculty, Staff and Student Publications

Objective: To evaluate the feasibility of an online expressive writing (EW) intervention for survivors of adolescent and young adult (AYA) cancer and determine whether iterative, theory-driven modifications can enhance response, adherence, and completion rates.

Methods: In this randomized pilot trial, survivors of AYA cancer were recruited through a hospital-based AYA oncology clinic and an online community. Forty participants were randomly assigned to the EW intervention or control group. To improve on lower-than-expected adherence and completion rates in a previous cohort, the protocol was iteratively revised using the Framework for Reporting Adaptations and Modifications to Evidence-based Implementation Strategies (FRAME-IS). Modifications included …

Intraoperative Ultrasound Imaging Features Guiding Surgical Strategy In Spinal Cord Ependymoma Resection, Esteban Ramirez-Ferrer, Ian E Mccutcheon, Gil Kimchi, Behrang Amini, Romulo Andrade Almeida, Francisco Call-Orellana, Juan Pablo Zuluaga-Garcia, Robert Y North, Christopher A Alvarez-Breckenridge, Jeffrey S Weinberg, Laurence D Rhines, Claudio E Tatsui

Faculty, Staff and Student Publications

Background and objectives: Preoperative imaging provides surgeons with an initial estimate of tumor infiltration and the likelihood of achieving an en-bloc resection in spinal cord ependymomas, yet the definitive decision is made intraoperatively. This study characterizes the intraoperative ultrasound (iUS) features that guide real-time surgical strategy and are associated with successful en-bloc removal.

Methods: A retrospective review of iUS images obtained during resection of spinal cord ependymomas was performed. The presence of a peritumoral halo representing the transition zone between the tumor and the spinal cord, the dorsal sagittal area of the spinal cord overlying the tumoral poles, the presence …

Automated Abdominal Aortic Calcification Scores And Atherosclerotic Cardiovascular Disease In The Uk Biobank Imaging Study, Marc Sim, James Webster, Cassandra Smith, Afsah Saleem, Syed Zulqarnain Gilani, Carlos J. Toro-Huamanchumo, David Suter, Gemma Figtree, Anne Karine Lagendijk, Emma L. Duncan, Carl Schultz, Pawel Szulc, Joseph Hung, Wai H. Lim, Parminder Raina, Nicola P. Bondonno, Richard Woodman, Jonathan M. Hodgson, Douglas P. Kiel, Richard L. Prince, William D. Leslie, John P. Kemp, Nicholas C. Harvey, John T. Schousboe, Joshua R. Lewis

Research outputs 2022 to 2026

Background: Abdominal aortic calcification (AAC) is a subclinical measure of atherosclerotic cardiovascular disease (ASCVD). AAC can be captured on lateral spine images obtained from bone density machines during routine osteoporosis screening. Identifying individuals with AAC provides a new opportunity to prevent disease progression. Objectives: The aim of the study was to externally validate a machine learning-derived AAC 24-point algorithm (ML-AAC24) with incident ASCVD. Methods: Middle-aged individuals from the UK Biobank Imaging Study with lateral spine images, obtained via dual-energy x-ray absorptiometry, were included. ML-AAC24 scores were grouped as low (<2), moderate (2 to <6), and high (≥6). Linked health records were used to identify ASCVD-associated events, including hospitalizations and death. Results: Among 53,611 participants (52% female; mean age 65 years), 78.2% had low, 16.4% had moderate, and 5.4% had high ML-AAC24. After excluding people with prevalent ASCVD or missing data, 1,163 (2.3%) of 50,923 people had an incident ASCVD event over a median follow-up of 4.1 [3.0-5.5] years. In age- and sex-adjusted analysis, compared to those with low ML-AAC24, those with moderate (HR: 1.80 [95% CI: 1.57-2.08]) and high ML-AAC24 (HR: 2.87 [95% CI: 2.39-3.44]) had a higher HR for incident ASCVD. Results remained comparable after adjustment for established ASCVD risk factors. Consistent patterns were observed when considering incident coronary artery disease, myocardial infarction, and stroke. Conclusions: Assessing ML-AAC24 on lateral spine images offers a new and promising screening method to identify people with higher risk of incident ASVD events.

Assessment Of Rotator Cuff External Rotation: Isometric Vs. Isotonic Testing Modes, Luca Maestroni, Filippo Beretta, Fabio Civera, Paolo Artina, Marco Cuniberti, Francesco Bettariga, Anthony Turner

Research outputs 2022 to 2026

Objectives: To assess intra-session reliability of isometric and isotonic shoulder external rotation (ER) strength tests and to compare their outcomes. Methods: Thirty-eight healthy subjects (19 females; 19 males; 25.7 ± 6.0 years; 175 ± 9 cm; 70.3 ± 11.4 kg) completed a shoulder ER strength assessment including Prone and Standing ER Isometric tests and Seated 5 repetition maximum (RM) ER tests. Normality was checked with the Shapiro–Wilk test. Reliability was assessed using the CV and ICC (3, k, 95% CI). Linear mixed models examined sex and dominance effects. Correlations and multiple regression tested associations between tests (p < 0.05). Results: All tests performed displayed “excellent” reliability scores (CV from 1.9 to 3.1% and ICC from 0.970 to 0.994). No significant effect of dominance was observed in any strength test. Males showed significantly higher values than females in both Prone (3.8% higher, p < 0.001) and Standing (2.7% higher, p = 0.003) isometric ER strength tests. Prone and Standing isometric tests were moderately correlated (r = 0.62, 95% CI [0.46, 0.74], p < 0.001). A regression model explained 52.4% of the variance in Seated 5 RM ER strength (R² = 0.524, …

Digital Pain Assessment: Patient And Family Perspectives, Rosemary Saunders, Kate Crookes, Kaoru Nosaka, Olivia Gallagher, Jeff Hughes, Caroline Bulsara, Max K. Bulsara, Seng Giap Marcus Ang, Beverley Ewens, Sue Haydon, Karla Seaman, Renée Graham, Debra Scaini, Karen Gullick, Michelle Gay, Christopher Etherton-Beer, Renée Graham

Research outputs 2022 to 2026

Background/Objectives: Pain is a common symptom for hospitalised older adults. Pain is not always adequately assessed, which can lead to inadequate pain management and adverse patient outcomes. Thus, new technology-driven pain assessment tools have been developed; however, little is known about patients’ and families’ experiences of nurses using them in acute care. This study aimed to explore the perspectives of older adult inpatients and their families’ regarding nurses’ use of the digital technology-driven pain assessment application PainChek^® Universal. Methods: A survey was undertaken as part of a stakeholder evaluation of a randomised control trial exploring the effectiveness of nurse-led …

Dietary Flavonoid Intake And Psychological Well-Being – A Bidirectional Relationship, Alysha S. Thompson, Nicola P. Bondonno, Yan Lydia Liu, Farah Qureshi, Laura D. Kubzansky, Claudia Trudel-Fitzgerald, Julia K. Boehm, Eric B. Rimm, Aedín Cassidy

Research outputs 2022 to 2026

Background and aim: Higher dietary flavonoid intake has been associated with lower risks of mortality and major chronic disease, yet its relationship with psychological well-being (PWB), a key contributor to health and quality of life, remains unclear. This study aimed to investigate bidirectional associations between dietary flavonoid intake and two PWB facets: happiness (positive emotional state) and optimism (generalized expectation of positive outcomes). Specifically, we examined whether (1) overall flavonoid-rich dietary patterns (flavodiet score), (2) intake of specific flavonoid-rich foods, and (3) total flavonoid and subclass intakes were each associated with happiness and optimism over time. Methods: Data were drawn …

Oral Ferrous Sulphate Supplementation Has Greater Efficacy, But Lower Tolerance Than Iron (Iii)-Hydroxide Polymaltose Complexes In Exercising Women With Low Iron Stores, Alannah Ka Mckay, Sophie Broome, Nicolin Tee, Kin Lui Yim, Marc Sim, Peter Peeling, Louise M. Burke

Research outputs 2022 to 2026

Background & Aims: Iron deficiency (ID) is a global health condition that predominately affects women. Although oral iron supplementation is an effective treatment strategy for this issue, gastrointestinal complaints are common, and if persistent, may lead to poor compliance. The efficacy of different iron formulations which claim to improve tolerance is unclear. This study assessed the efficacy and tolerability of ferrous sulphate (FS) and iron (III)-hydroxide polymaltose complex (IPC) supplementation in three different cohorts of women.. Methods: This study implemented a 12-week, single-blind, randomized controlled trial. Eligible participants had a serum ferritin concentration of <50 μg/L and met specific inclusion criteria to be enrolled to either the athlete, pre-menopausal or post-menopausal groups. Participants were randomized to receive FS (equivalent to 105 mg elemental iron) plus sodium ascorbate or IPC (equivalent to 100 mg elemental iron) daily. Venous blood samples were collected at baseline, 4-, 8- and 12-weeks of supplementation. A daily questionnaire was completed throughout the study period, documenting supplement tolerance (number and severity of symptoms), exercise load, menstrual characteristics, and supplement compliance. Results: Fifty-seven participants completed the intervention with a compliance rate of 94.9 % [range: 74.8-100 %]. A significant interaction between supplement and time was evident for ferritin (p < 0.001), where FS increased after 12 weeks (+109 %; p < 0.001) but no change was evident in IPC (+7 %; p = 0.727). No differences were detected between cohorts (p > 0.05). The IPC group had a …

The Jigsaw Teach-Back Teaching Method: A More Dynamic Alternative To Traditional Lecture, Heidi Carter, Bethany Johnson, Gale Springer

Publications 2026-present

No abstract provided.

Orthopedic Bone Drill, Logan G. Schmid, Matthew T. Wold, May Geng

Biomedical Engineering

This project aims to design a bone drill for orthopedic procedures which alleviates the heat generated in the bone during drilling.