Biomedical Informatics Commons^™

Kinetic Human Movement Ontology: A Semantic Terminology Model To Symbolically Represent Physiological Movement, Muhammad Amith, Vivian Ha, Eloisa Nguyen, Yang Gong, Ahsiya Lin, Cui Tao, Licong Cui

Faculty, Staff and Student Publications

Cataloging physiological and anatomical terminologies may provide a fundamental basis for bridging the involvement of muscles, skeletal, and other essential parts in human movement, in addition to understanding their role on human morbidity. We present a general formalized ontology model that focuses on anatomical and physiological entities that are active during human movement, called the Kinetic Human Movement Ontology (KHMO). We developed a model to represent human movement that links human postures using OWL2. We used the model to assemble various open-sourced controlled terminologies involved in human movement - anatomical entities, physiological terms, etc. KHMO presents 1954 classes, 42 properties, …

Integrating The Glycemia Risk Index Into Clinical Practice And Research: A Consensus Report, Guillermo E Umpierrez, Viral N Shah, Veronica Brady, Mark A Clements, Juan Espinoza, Elizabeth Healey, Michael A Kohn, David M Maahs, Ralph Oiknine, Jane J Seley, Steven P Weitzman, David Kerr, Halis K Akturk, Grazia Aleppo, Mohammed E Al-Sofiani, Eda Cengiz, Francis J Doyle, Osagie Ebekozien, Steven V Edelman, Laya Ekhlaspour, Guido Freckmann, Lutz Heinemann, Irl B Hirsch, Victoria C Hsiao, Sun H Kim, Boris Kovatchev, Rayhan A Lal, Marcus Lind, Julia K Mader, Nestoras Mathioudakis, Tracey Mclaughlin, Sultan A Meo, Deborah A Osafehinti, Moshe Phillip, Priya Prahalad, David Scheinker, Michael P Snyder, Jing Wang, Jenise C Wong, Eugene E Wright, Mandy M Shao, Agatha F Scheideman, Ashley Y Dunova, David C Klonoff

Faculty, Staff and Student Publications

A panel of experts in the use of continuous glucose monitoring (CGM) data in the treatment of diabetes met in Burlingame, California on October 27, 2025 to discuss the utility of the glycemia risk index (GRI) for clinical care research and population health management. The GRI composite metric is a single number (on a 0-100 percentile scale-lower is better) based on an expert-determined weighting of the seven individual components in the existing ambulatory glucose profile (AGP). The GRI describes the quality of glycemia based on glucose values collected in a 14-day CGM tracing, thus providing additional insights into CGM profiles …

Cancers 2025: Growing With Quality, Samuel C Mok

Faculty, Staff and Student Publications

As we enter 2026, we take a moment to reflect on the progress of Cancers over the past year [...].

Assessing The Presence Of Biasing And Non-Biasing Unblinding In A Randomized Controlled Trial Of A Home-Use Tdcs Device: An Exploratory Analysis, Fredrik Hieronymus, Nathan T M Huneke, Daniel Månsson, Erik M Rehn, Melker Hagsäter, Rachel D Woodham, Jair C Soares, Allan H Young, Rodrigo M Vieira, Sudhakar Selvaraj, Cynthia Fu

Faculty, Staff and Student Publications

Background: Better-than-chance guessing of treatment assignment raises concerns about unblinding as this opens efficacy estimates up to being influenced by factors other than the true efficacy of the intervention. However, such accuracy does not necessarily indicate that efficacy estimates are biased.

Objective: To assess whether unblinding was biasing (impacting on efficacy estimates) or non-biasing (not impacting on efficacy estimates) in a sham-controlled trial of a home-use transcranial direct-current stimulation (tDCS) device, in which treatment allocation guesses at endpoint were unbalanced.

Methods: Interrelations between i) treatment allocation, ii) treatment allocation guesses, iii) adverse event reports, and iv) depressive symptom severity, as …

Medial Pulvinar Nucleus As A Causal Hub For Heteromodal Naming, Oscar Woolnough, Tessy Thomas, Kathryn M Snyder, Ellery Wheeler, Jay Gavvala, Nitin Tandon

Faculty, Staff and Student Publications

Our ability to retrieve the names of objects in our environment is a fundamental aspect of everyday life. This process requires a complex, dynamic network of cortical and subcortical interactions. While the cortical constituents of this network have been extensively studied with intracranial recordings, the subcortical nodes of the naming network are unclear. We probed the role of the left medial pulvinar nucleus in naming with direct intracranial recordings and stimulation in eight humans (three male, five female) as they named objects using pictures and auditory and written descriptions. We found a spectrotemporal signature of naming in the left medial …

Childhood Maltreatment And Deviations From Normative Brain Structure: A Mega-Analysis Of 3,711 Individuals From The Enigma Mdd And Enigma Ptsd Working Groups, Haley R Wang, Zhen-Qi Liu, Elena Pozzi, Ahmed Hussain, Priyanka Sigar, Chadi Abdallah, Nina Alexander, Justin Baker, Jochen Bauer, Jennifer Urbano Blackford, Josh Cisler, Colm G Connolly, Andrew Cotton, Judith Daniels, Udo Dannlowski, Maria Densmore, Terri Deroon-Cassini, Danai Dima, Stefan Du Plessis, Amit Etkin, Negar Fani, Lukas Fisch, Jacklynn Fitzgerald, Thomas Frodl, Cynthia H Y Fu, Ali Saffet Gonul, Evan M Gordon, Ian Gotlib, Roberto Goya-Maldonado, Nynke A Groenewold, Dominik Grotegerd, Tim Hahn, J Paul Hamilton, Laura Han, Ilan Harpaz-Rotem, Courtney C Haswell, Ryan Herringa, Julia Herzog, Jonathan Ipser, Neda Jahanshad, Tanja Jovanovic, Milissa Kaufman, Tilo Kircher, Maximilian Konowski, Sheri-Michelle Koopowitz, Axel Krug, John Krystal, Ruth Lanius, Christine Larson, Amit Lazarov, Lauren Lebois, Elisabeth Leehr, Ifat Levy, Meng Li, Antje Manthey, Adi Maron-Katz, Andrew Mcintosh, Katie Mclaughlin, Susanne Meinert, Benson Mwangi, Steven M Nelson, Igor Nenadić, Yuval Neria, Richard Neufeld, Amar Ojha, Bunmi Olatunji, Elizabeth A Olson, Nils Opel, Matthew Peverill, Kerry Ressler, Marisa Ross, Isabelle Rosso, Matthew Sacchet, Kelly Sambrook, Christian Schmahl, Soraya Seedat, Martha E Shenton, Maurizio Sicorello, Anika Sierk, Jair C Soares, Dan J Stein, Frederike Stein, Murray B Stein, Benjamin Suarez-Jimenez, Jean Théberge, Sophia I Thomopoulos, Carissa Tomas, Paula Usemann, Leigh L Van Den Heuvel, Sanne Van Rooij, Henrik Walter, Martin Walter, Xin Wang, Heather Whalley, Nils R Winter, Mon-Ju Wu, Hong Xie, Tony Yang, Xi Zhu, Sigal Zilcha-Mano, Giovana B Zunta-Soares, Sophia Frangou, Paul M Thompson, Lauren Salminen, Delin Sun, Rajendra Morey, Jennifer S Stevens, Lianne Schmaal, Tiffany C Ho

Faculty, Staff and Student Publications

Background: Childhood maltreatment (CM), encompassing abuse and neglect, is highly prevalent and associated with elevated risk for Major Depressive Disorder (MDD), Posttraumatic Stress Disorder (PTSD), and other related conditions. The extent to which neuroanatomical alterations in MDD and PTSD are attributable to CM, however, is uncertain.

Methods: Here, we analyzed CM and whole-brain MRI data from 3,711 participants in the ENIGMA MDD and PTSD Working Groups (25 sites; 33.3±13.0 years; 59.9% female). Normative modeling estimated deviation z-scores for 14 subcortical volumes (SV), 68 cortical thickness (CT), and 68 surface area (SA) measures. To identify transdiagnostic effects, associations between CM and …

Proteomic Profiling Of Pulmonary Function And Cardiovascular Disease Risk In The Atherosclerosis Risk In Communities Study, Yura Lee, Astrid M Manuel, Ngoc Quynh H Nguyen, Christine Ladd-Acosta, Alanna C Morrison, Kari E North, Eric Boerwinkle, Amil M Shah, Zhongming Zhao, Stephanie J London, Bing Yu

Faculty, Staff and Student Publications

Background: Pulmonary function is linked to cardiovascular disease risk; however, the underlying mechanisms remain unclear. We aimed to identify protein biomarkers associated with pulmonary function and examine their impact on incident chronic obstructive pulmonary disease, coronary heart disease, heart failure, and all-cause mortality.

Methods: Data from White and Black Americans in the Atherosclerosis Risk in Communities study (visit 2: N=11 354, mean age=57 years; visit 5: N=3517, mean age=75 years), a prospective cohort, were analyzed. Linear regression assessed associations between protein levels and pulmonary function measures, including forced expiratory volume in 1 second and forced vital capacity. The impact of …

Influence Of Body Composition On The Efficacy Of Nivolumab Plus Ipilimumab For Metastatic Clear Cell Renal Cell Carcinoma, Kabir Grewal, Maria Julia Moura Nascimento Santos, Pankaj Kumar Chauhan, Kai Yu, Nizar M Tannir, Sagar S Mukhida, Neha Venkatesh, Amishi Y Shah, Amado J Zurita, Andrew C Johns, Matthew T Campbell, Sangeeta Goswami, Jianjun Gao, Eric Jonasch, Jennifer L Mcquade, Omar Alhalabi, Pavlos Msaouel, Andrew W Hahn

Faculty, Staff and Student Publications

Background: Immune checkpoint inhibitor therapy (ICI) with nivolumab+ipilimumab is a first-line (1L) standard for metastatic clear cell renal cell carcinoma (ccRCC), yet outcomes remain heterogeneous. Increasing evidence suggests that host factors influence the tumor microenvironment and response to ICI. Although higher body mass index (BMI) has been associated with improved outcomes in several malignancies, BMI is an imprecise surrogate for underlying adipose and muscle compartments. We evaluated the association between body composition and outcomes with 1L nivolumab+ipilimumab in metastatic ccRCC.

Methods: We retrospectively analyzed patients with mccRCC treated with 1L nivolumab+ipilimumab at MD Anderson Cancer Center between June 2015 and …

Ectopic B Lymphocyte Follicles Exacerbate Ischemic Brain Damage Via Mif-Cd74/Cxcr4 And Interferon Signaling, Sheng Yang, Hang Zhang, Lu-Lu Xu, Luo-Qi Zhou, Yun-Hui Chu, Lian Chen, Xiao-Wei Pang, Lu-Yang Zhang, Li-Fang Zhu, Ming-Hao Dong, Ke Shang, Jun Xiao, Long-Jun Wu, Wei Wang, Dai-Shi Tian, Chuan Qin

Faculty, Staff and Student Publications

Neuroinflammation, encompassing both innate and adaptive immune responses, plays a crucial role in ischemic stroke. Although B lymphocytes are central to adaptive immunity, their contributions to ischemic stroke remain poorly understood. Here, we demonstrated that B lymphocytes accumulate in ischemic lesions, forming germinal center-like structures at the later stage after stroke, which mainly depended on in situ proliferation. This accumulation correlated with worsened neuroinflammation and ischemic injury, whereas B cell depletion reduced chronic brain damage during stroke. Mechanistically, microglia recruited B cells into ischemic lesions through MIF-CD74/CXCR4 signaling during the early phase of stroke, while IFN-related pathways in B cells …

Continuous Vs Intermittent Postoperative Vital Sign Monitoring: A Cluster Randomized Crossover Trial, Ashish K Khanna, Nathaniel Sean O'Connell, Amit K Saha, Megan Henley Hicks, Robert S Weller, Lynnette Harris, Bruce D Cusson, Ann Faris, Carolyn S Huffman, Scott Segal, Brian J Wells, Eric S Kirkendall, Daniel I Sessler

Faculty, Staff and Student Publications

Importance: Continuous postoperative monitoring on general nursing units detects vital sign abnormalities that are missed with conventional intermittent monitoring. Early recognition may prompt interventions to limit potentially harmful blood pressure, heart rate, and oxygen saturation perturbations.

Objective: To test the hypothesis that continuous unblinded monitoring of vital signs would decrease blood pressure, heart rate, and oxygen saturation abnormalities compared with intermittent monitoring in patients recovering from noncardiac surgery.

Design, setting, and participants: This multiple crossover randomized cluster trial in 2 postoperative hospital wards included patients recovering from noncardiac surgery and was conducted from October 7, 2020, to October 7, 2021. …

Dna Methylation Is Associated With Von Willebrand Factor And Coagulation Factor Viii Plasma Levels: The Atherosclerosis Risk In Communities Study, Julie Hahn, Jan Bressler, Myriam Fornage, Eric Boerwinkle, Nicholas L Smith, Alanna C Morrison, Paul S De Vries

Faculty, Staff and Student Publications

Background: Limited information is available on how DNA methylation of cytosine-phosphate-guanine (CpG) sites across the genome regulate circulating von Willebrand Factor (VWF) and factor VIII (FVIII) levels.

Methods: We performed an epigenome-wide association study to examine the association of leukocyte DNA methylation levels at 483,735 CpG sites with VWF antigen plasma levels and FVIII activity in 2,597 Black and 1,011 White participants from the Atherosclerosis Risk in Communities (ARIC) study. VWF antigen levels and FVIII activity were measured at the baseline exam, while DNA methylation was measured with the Infinium HumanMethylation450 BeadChip array at visit 2 or 3. Discovery analysis …

Poly(Adp-Ribose) Glycohydrolase Enforces P21 Degradation Via Deparylation To Promote Gastric Cancer Progression, Yangchan Hu, Qimei Bao, Yixing Huang, Yan Wang, Xin Zhao, Junjun Nan, Yuxin Meng, Mingcong Deng, Yuancong Li, Zirui Zhuang, Hanyi He, Dan Zu, Yuke Zhong, Chunkai Zhang, Bing Wang, Ran Li, Yanhua He, Qihan Wang, Min Liu, John A Tainer, Yin Shi, Xiangdong Cheng, Ji Jing, Zu Ye

Faculty, Staff and Student Publications

Dysregulation of cell cycle checkpoints is a cancer hallmark, with ubiquitination-controlled protein stability playing a pivotal role. Although p21, a key cyclin-dependent kinase inhibitor, is tightly regulated by ubiquitin-mediated degradation, the key upstream modulators of its ubiquitination remain incompletely defined. Here, we identify poly(ADP-ribose) glycohydrolase (PARG) as a regulator of p21 stability in gastric cancer (GC) cells. We show that PARG expression is markedly upregulated in GC tissues and correlates with poor patient prognosis. Functional assays revealed that genetic depletion of PARG triggers G2/M phase arrest and impairs GC cell proliferation. Mechanistically, we demonstrate that PARG loss enhances p21 PARylation, …

Mechanometabolism Instructs Hematopoietic Stem Cell Specification, Paulina D Horton, Alina Syed, Michelle Winkler, Abishek B Vaidya, Michael Rariden, Neha Arora, Yong Zhou, Michihiro Kobayashi, Momoko Yoshimoto, Hyun Jung Lee, Hyun-Eui Kim, John P Hagan, Catherine Denicourt, Travis I Moore, Pamela L Wenzel

Faculty, Staff and Student Publications

Mechanical force generated by blood flow stimulates emergence of the first hematopoietic stem cells (HSCs) that populate the blood system. Force drives the transition of HSC precursors from an endothelial to hematopoietic identity, yet the molecular regulation of this fate switch remains poorly understood. We report that shear stress triggers adaptation in mitochondrial composition, ultrastructure, and function, which are essential for hematopoietic fate and engraftment potential. Shear stress remodels mitochondria in hemogenic endothelium by promoting mitochondrial gene transcription and protein synthesis. Laminar flow selectively initiates translation of 5' terminal polypyrimidine (5'TOP) motif-containing transcripts, which commonly encode ribosome and translation machinery. …

Physical And Occupational Therapist Evaluations For Fall Prevention In The Emergency Department: A Geriatric Ed Guidelines 2.0 Systematic Review, Lauren T Southerland, Pedro K Curiati, Richard D Shih, Alexander X Lo, Kristie Harper, Ian Tarnovsky, Alexis Brengartner, Luna Ragsdale, Neha Raukar, Suzanne Ryer, Katherine M Hunold, Fabrice Mowbray, Charles L Maddow, Christopher R Carpenter, Shan W Liu

Faculty, Staff and Student Publications

Background: Older adults are at high risk for severe injuries and death from falls. Physical therapist (PT) and occupational therapist (OT) evaluations have been introduced into Emergency Department (ED) care to assist with fall risk evaluation and fall prevention care. An evaluation of current evidence was undertaken to inform the Geriatric ED Guidelines 2.0.

Methods: Systematic review of physical and/or occupational therapy evaluation for fall prevention in the ED. The intervention was evaluation by a rehabilitation therapist (PT, OT, or both) for fall prevention, fall assessment, or mitigation of fall risk factors. Studies that did not perform the evaluation during …

Barriers To Occupational And Physical Therapy Utilization For Children With Cancer, Maria C Swartz, Shiming Zhang, Donna Kelly, Clark R Andersen, Keri Schadler, Alakh P Rajan, Eduardo Gonzalez Villarreal, Stephanie J Wells, Amy Heaton, Karen Moody

Faculty, Staff and Student Publications

Introduction: Occupational and physical therapy (OT/PT) referrals and utilization barriers for childhood cancer patients have not been adequately examined. The current study investigated factors influencing referrals to and utilization of OT/PT services among children with cancer at an NIH-designated cancer center.

Methods: This retrospective cohort study included pediatric cancer patients (up to 18.99 years) presenting to the center over a 33.5-month period. Variables that could influence referrals to OT/PT were extracted from the electronic medical record (EMR) including OT and PT referrals (inpatient and outpatient), OT and PT consult completion, age at diagnosis, cancer type, sex, race/ethnicity, insurance, cancer treatment, …

Physical Activity In Osteosarcoma Patients During And Post Therapy: A Single Site Prospective Observational Study, Elysia R Cohen, Clark Andersen, Karen Moody, Maria C Swartz, Michael C Robertson, Alakh Rajan, Theresa Honey, Sandra Lugo, Grace Waterman, Keri Schadler

Faculty, Staff and Student Publications

PURPOSE: Osteosarcoma is the most common primary bone tumor in childhood and adolescence. Many patients face long-term impairments in their mobility and function after treatment, leading to a decrease in their quality of life. Exercise has been shown to improve functional recovery and improve quality of life in patients with cancer, though data specific to children with osteosarcoma are sparse. Exercise has also been shown to be feasible in patients undergoing chemotherapy, with numerous potential benefits to health and quality of life. To design the most effective exercise interventions for children and adolescents with osteosarcoma, we must first understand the …

Sexual Toxicity After Chemoradiation For Anal Cancer Among Men Who Have Sex With Men: A Mixed-Methods Analysis, Beck O Gold, Angie Arzola, Benjamin R Schrank, Van K Morris, Christophe Marques, Jaime Gilliland, Thomas M Atkinson, Emma B Holliday

Faculty, Staff and Student Publications

Purpose: Chemoradiation (CRT) is the standard of treatment for localized anal squamous cell carcinoma (SCCA). Although cure rates are high, acute and late toxicities are common. There are increasing published data regarding vaginal stenosis and erectile dysfunction; however, the nature and impact of holistic sexual dysfunction after pelvic radiation, particularly among men who have sex with men (MSM), remains poorly characterized. This study aimed to: (1) explore patient-reported sexual health outcomes among MSM as measured by existing patient-reported outcome tools, and (2) assess the applicability of these existing tools for this population.

Methods and materials: MSM who are at least …

Pharmacokinetic Modeling Strategies For Dynamic Hyperpolarized Urea Imaging, Keith A Michel, Collin J Harlan, Christopher M Walker, Matthew E Merritt, Yunyun Chen, Stephen Y Lai, James A Bankson

Faculty, Staff and Student Publications

Purpose: To evaluate pharmacokinetic modeling methods for quantification of tissue perfusion/permeability with hyperpolarized 13C urea.

Methods: Three models for quantitative analysis of dynamic HP urea imaging data were proposed and evaluated in numerical simulations and a thyroid cancer mouse model. A multicompartment model resembling the extended Tofts model for DCE-MRI (Model I) and two simplified models were used. The simplified models each eliminate a volume parameter representing vascular (Model II) or impermeable cellular space (Model III). Signal curves were generated from Model I, and models were fit to these synthetic data to quantify the effects of acquisition settings, bias in …

Real-World Effectiveness Of Second-Line Therapies In Advanced Non-Small Cell Lung Cancer: Insights From Propensity-Weighted Comparative Analyses Of Longitudinal Ehr Data, Gary C N Hettinger, Qi Long, Ravi B Parikh

Faculty, Staff and Student Publications

Background: While substantial research has focused on first-line (1L) therapies for advanced-stage non-small cell lung cancer (aNSCLC), less is known about the effectiveness of second-line (2L) treatments following disease progression on 1L. The poor prognosis after 1L progression, limited guidance for 2L treatment, and constraints of clinical trials in addressing these questions underscore the need for real-world comparative effectiveness research.

Methods: We conducted a retrospective analysis to compare real-world overall survival (rwOS) associated with 2L treatments among patients with disease progression during 1L. Eligible patients were selected from Flatiron Health's nationwide electronic health record (EHR)-derived de-identified database. 1L and 2L …

Information Extraction From Clinical Notes: Are We Ready To Switch To Large Language Models?, Yan Hu, Xu Zuo, Yujia Zhou, Xueqing Peng, Jimin Huang, Vipina K Keloth, Vincent J Zhang, Ruey-Ling Weng, Cathy Shyr, Qingyu Chen, Xiaoqian Jiang, Kirk E Roberts, Hua Xu

Faculty, Staff and Student Publications

Objectives: To assess the performance, generalizability, and computational efficiency of instruction-tuned Large Language Model Meta AI (LLaMA)-2 and LLaMA-3 models compared to bidirectional encoder representations from transformers (BERT) for clinical information extraction (IE) tasks, specifically named entity recognition (NER) and relation extraction (RE).

Materials and methods: We developed a comprehensive annotated corpus of 1588 clinical notes from 4 data sources-UT Physicians (UTP) (1342 notes), Transcribed Medical Transcription Sample Reports and Examples (MTSamples) (146), Medical Information Mart for Intensive Care (MIMIC)-III (50), and Informatics for Integrating Biology and the Bedside (i2b2) (50), capturing 4 clinical entities (problems, tests, medications, other treatments) …

Urinary Cotinine Cut-Offs For Tobacco Smoke Exposure In Pregnancy And Associations With Child Intelligence Quotient: A Multi-Cohort Analysis, Yu Ni, Logan C Dearborn, Adam A Szpiro, Christine T Loftus, Qi Zhao, Nicole R Bush, Kaja Z Lewinn, Marnie F Hazlehurst, Thomas F Northrup, Penelope J E Quintana, Eunha Hoh, Georg Matt, Catherine J Karr

Faculty, Staff and Student Publications

Background: Prenatal exposure to tobacco smoke may impair neurodevelopment in children. However, accurately characterizing this exposure remains challenging.

Methods: We pursued two objectives in this large population study. First, in 1708 pregnant women from the Environmental Influences on Child Health Outcomes (ECHO) cohort, we constructed Receiver Operating Characteristic (ROC) curves to determine urinary cotinine cut-offs to classify firsthand (FHS), environmental (ETS), and no exposure, and further distinguished secondhand (SHS) from thirdhand smoke (THS) exposure within ETS. Second, among 1593 participants in three pregnancy cohorts nested in ECHO, we fit multivariable linear regressions to examine the association between the newly defined …

Alpha 7 Nicotinic Acetylcholine Receptor Contributes To Long-Term Cognitive Recovery Following Ischemic Stroke, Dustin T Nguyen, Kate Mendoza, Cassandra Hall, Chunfeng Tan, Anjali Chauhan

Faculty, Staff and Student Publications

Stroke is associated with autonomic dysfunction and reduced acetylcholine (ACh), a neurotransmitter critical for cognition. ACh signals in part through the alpha-7 nicotinic acetylcholine receptor (α7nAChR), a ligand-gated ion channel involved in synaptic plasticity, learning, and memory. Impaired α7nAChR signaling has been linked to heightened neuroinflammation and poor acute stroke recovery. Here, we investigated whether α7nAChR contributes to post-stroke cognitive recovery in young male mice. Wild-type (WT) and α7nAChR knockout (α7n0KO) mice underwent 60-min middle cerebral artery occlusion (MCAO). In a pharmacology cohort, the α7nAChR agonist GTS-21 was administered immediately after reperfusion and then daily for 20 days. Cognitive performance …

Analysis Of Patients With Monocytic And Monocytic-Like Acute Myeloid Leukemia, Including Aml-M4 And Aml-M5, Treated With Venetoclax Plus Azacitidine, Marina Konopleva, Courtney D Dinardo, Yan Sun, Paul Jung, Sanam Loghavi, Jalaja Potluri, Monique Dail, Brenda Chyla, Daniel A Pollyea

Faculty, Staff and Student Publications

No abstract provided.

Impact Of Mutational Landscape And Burden On Rbc Transfusion Response In Patients With Lower-Risk Myelodysplastic Syndromes (Lr-Mds) In The Commands Study, Rami S Komrokji, Sheida Hayati, Manuel Ugidos, Guillermo Garcia-Manero, Matteo Giovanni Della Porta, Amer M Zeidan, Valeria Santini, Uwe Platzbecker, Anita K Gandhi, Rajasekhar N V S Suragani

Faculty, Staff and Student Publications

The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS trial. Of 350 evaluable patients, 238 (68.0%) had MDS with multiple lineage dysplasia and ring sideroblasts (RS) according to World Health Organization 2016 criteria, and 320 (91.4%) had somatic mutations in ≥ 1 gene (median, 2) with median variant allele frequencies (VAF) of 2%–59%. Mutation profiles were similar in the treatment groups. Luspatercept …

Clemastine Ameliorates Cognitive Deficits In An Experimental Rat Model Of Chronic Cerebral Hypoperfusion, Xuemei Zong, Zhihai Huang, Fanfei Kong, Yu Feng, Yulan Zhang, Peibin Zou, Hung Wen Lin, David C Hess, Quanguang Zhang

Faculty, Staff and Student Publications

Chronic cerebral hypoperfusion (CCH) profoundly affects patient well-being and has been proposed as a risk factor for cognitive impairment and dementia. However, due to the limited understanding of the pathophysiology of CCH, there are currently no effective preventive or therapeutic approaches for CCH-associated cognitive impairment. Therefore, identifying new targets for CCH is essential to bridge this knowledge gap. In this study, we sought to determine whether enhanced myelination could prevent cognitive impairment associated with CCH. Experimental CCH was induced via bilateral common carotid artery occlusion (BCCAO) in rats, and clemastine, a well-established pro-myelinating agent, was administered to boost myelin renewal. …

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 …

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 …

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 …

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 …