Digital Commons Network^™

Newborn Screening Reduces Survival Disparities In Scid After Stem Cell Transplant: A Pidtc Report, Lena E Winestone, Brent R Logan, Xuerong Liu, Olatundun Williams, Elizabeth A Dunn, Monica S Thakar, Sharon A Kidd, Talal Mousallem, Morna J Dorsey, Richard J O'Reilly, Neena Kapoor, Lisa Forbes Satter, Malika Kapadia, Soma C Jyonouchi, Sharat Chandra, Christen L Ebens, Deepakbabu Chellapandian, Sonali Chaudhury, Karin Chen, Blachy J Dávila Saldaña, Ahmad Rayes, Troy C Quigg, Shanmuganathan Chandrakasan, Jeffrey J Bednarski, Kenneth B Desantes, Pierre Teira, Alfred P Gillio, Hesham Eissa, Alan P Knutsen, Victor M Aquino, Evan B Shereck, Theodore B Moore, Emi H Caywood, Mark T Vander Lugt, Jacob Rozmus, Larisa Broglie, Lolie C Yu, Ami J Shah, Avni Y Joshi, Rebecca H Buckley, Jasmeen Dara, Joseph H Oved, Hisham Abdel Azim, Caridad A Martinez, Susan Prockop, Kathleen E Sullivan, Jack J Bleesing, Michael D Keller, Lisa M Madden, Suhag Parikh, Shalini Shenoy, Christine M Seroogy, Tamar Rubin, Jennifer Licata, Jeffrey R Andolina, Donald B Kohn, Lauri Burroughs, Jennifer W Leiding, Rebecca A Marsh, Luigi D Notarangelo, Sung-Yun Pai, Troy R Torgerson, Michael A Pulsipher, Jennifer Heimall, Geoffrey D E Cuvelier, Linda M Griffith, Jennifer M Puck, Christopher C Dvorak, Morton J Cowan, Elie Haddad

Faculty, Staff and Students Publications

Black race and Hispanic ethnicity are associated with higher mortality in severe combined immunodeficiency (SCID) following hematopoietic cell transplantation (HCT), though mechanisms remain unclear. We evaluated 796 children with SCID who received nonsibling HCT between 1982 and 2020 using data from the Primary Immune Deficiency Treatment Consortium. Overall survival for Black (aHR 2.47, 95%CI 1.64, 3.71) and Asian/Pacific Islander patients (aHR 1.82, 95%CI 1.00, 3.30) was significantly lower compared with non-Hispanic White patients, while Hispanic patients had lower event-free survival (aHR 1.83, 95%CI 1.27, 2.63) compared with non-Hispanic White patients. Even after adjusting for age and infection, Black patients with …

Distinct Mutational Landscapes For Germline And Somatic Cancer Variants In Forty Tumor Suppressor Genes, Suhasini D Lulla, Deborah I Ritter, Chimene Kesserwan, Sharon E Plon

Faculty, Staff and Students Publications

Germline and somatic cancer variants in tumor suppressor genes (TSGs) share loss-of-function mechanisms, but studies of a few genes (DICER1 and CEBPA) have demonstrated differences in variant consequence and location. To systematically assess whether TSGs display distinct mutational patterns, we leveraged large public genetic databases and compared 32,941 high-quality pathogenic/likely pathogenic (P/LP) germline variants in ClinVar, with 12,907 oncogenic/likely oncogenic (O/LO) somatic tumor variants from cBioPortal across 40 TSGs. Only 3,863 (9.2%) variants were shared. Eighteen TSGs showed significantly different distributions of variant occurrences by molecular consequence, replicated with non-overlapping somatic data from the COSMIC database (chi-squared tests, false discovery …

Towards Human-Centered Digital Health Interventions, Kristin M Kostick-Quenet, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

This article discusses the potential of digital health interventions (DHIs) in mental health care, emphasizing the importance of designing them to foster genuine humanistic care. It highlights current challenges in measuring engagement and outcomes, advocating for integrating human-centered endpoints such as dignity, autonomy, and therapeutic alliance into evaluation frameworks. The authors call for mechanistic research to identify effective engagement strategies and context-specific implementation approaches. Ultimately, successful DHIs should demonstrate both clinical efficacy and the preservation of humane, person-centered care, ensuring ethical and meaningful mental health support through technology.

Skin Carotenoid Scores Are A Valid Approximation Of Fruit And Vegetable Intake Among Adults With Obesity, Stephanie B Jilcott Pitts, Qiang Wu, Elizabeth Gates, Melissa N Laska, Andrew R Dinardo, Nancy E Moran

Children’s Nutrition Research Center Staff Publications

Skin carotenoid score (SCS) as measured using pressure-mediated reflection spectroscopy has been validated among adults with normal and overweight body mass index, with little validation research among adults with obesity. Therefore, the purpose of this exploratory study was to examine the validity of SCS as an approximation of fruit and vegetable intake among adults with obesity. We used samples from adults with obesity from three prior studies: The first study examined the validity of SCS among 213 adults, 34 with obesity; the second, examined sensitivity of SCS to a β-carotene-rich juice intervention among 162 adults, 14 with obesity; the third …

Loss Of Function Dnmt3a Mutation Leads To Aberrant Neutrophil Migration, Frieda Zimmer, Daniel E Kennedy, Spencer L Redding, Ruoqiong Cao, Sarah M Waldvogel, Apoorva Thatavarty, Bryan Bahoua, Brandon T Tran, Arushana A Maknojia, Margaret A Goodell, Antony Rodriguez, Katie A Matatall, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis (CH), an age-related expansion of somatically mutated hematopoietic clones, is associated with increased risk of severe infections including coronavirus disease (COVID)-19, yet the underlying mechanisms remain unclear. Here, we investigated the impact of Dnmt3a deficiency in a murine model of influenza A virus (IAV) pneumonia. Dnmt3a-deficient mice exhibited increased pulmonary viral burden and reduced neutrophil accumulation in IAV-infected lungs despite comparable circulating neutrophil numbers. Functional analyses of neutrophils showed impaired chemotactic migration in vitro, whereas maturation, antimicrobial enzyme content, and metabolic capacity were unchanged. Transcriptomic profiling revealed downregulation of pathways involved in chemotaxis, cytokine signaling, and cellular activation, …

Lidocaine Combined With Low-Dose Esketamine For Movement-Evoked Pain After Hepatectomy: A Double-Blind Randomised Controlled Trial, Yan Xu, Li Zhou, Qianqian Tang, Feng Yu, Jingwen Wu, Siyu Yan, Min Cai, Jialu Wan, Yi Kang, Lajing Luowu, Mengmeng Zhou, Lulong Bo, Daniel I Sessler, Chunling Jiang

Faculty, Staff and Student Publications

Introduction: Pain following hepatectomy may delay recovery and increase opioid use. We tested the primary hypothesis that combining lidocaine and low-dose esketamine would reduce movement-evoked pain 24 h after hepatic resection. We also evaluated whether this approach reduced opioid consumption and improved quality of recovery.

Methods: Patients having elective hepatic resections were allocated randomly to receive lidocaine-esketamine or placebo from induction of anaesthesia until the end of surgery. After surgery, patients allocated to lidocaine-esketamine were given a continuous infusion of lidocaine with esketamine for 72 h. All patients received transversus abdominis plane blocks with ropivacaine 2 mg.kg-1 after induction of …

Hydroxyethyl Starch And Perioperative Complications: A Systematic Review And Meta-Analysis, Daniel I Sessler, Lorenzo Pradelli, Massimiliano Povero, Daniel Chappell, E Wang

Faculty, Staff and Student Publications

Background: Based on renal injury reported in critically ill and septic patients, the U.S. Food and Drug Administration issued a black box warning regarding hydroxyethyl starch (HES 130/0.4) use in 2013 and expanded the warning to surgical and trauma patients in 2021. Similarly, the European Medicines Agency initiated withdrawal of hydroxyethyl starch in 2022. This study was a new meta-analysis focused on renal injury designed to complement a 2021 meta-analysis of perioperative hydroxyethyl starch use, adding 45 trials and 6,895 patients. The focus was acute kidney injury and preoperative-to-postoperative change in creatinine concentration in surgical patients.

Methods: This study searched …

Corrigendum To “Development And Validation Of The A-Tango Organ Failure Score For Acute-On-Chronic Liver Failure In Global Cohorts” [J Hepatol 85 (2026) 91–105], Cornelius Engelmann, Nipun Verma, Tingting Qi, Annarein Johanna Catharina Kerbert, Julian Pohl, Carrie Morgan, Michal Kowalski, Fausto Andreola, Marcelo Oscar Silva, Jose Luis Perez Hernandez, Renato Palma-Fernandez, Manuel Mendizabal, Osvely Mendez-Guerrero, Jose Luis Marin, Sebastián Marciano, René Male-Velazquez, Maria Sarai González-Huezo, Adrian Gadano, Fernando Bessone, Carlos Benitez, Oscar Alfredo Beltran Galvis, Mauricio Castillo Barradas, Marco Arrese, Karen Vagner-Danielsen, Peter Jarcuska, Boglarka Balogh, Zsuzsanna Vitalis, Antonella Putignano, Manuel Tufoni, Michael Manns, Claire Francoz, Manuel Romero-Gomez, Stephen Ryder, Pierre Nahon, Sven Francque, Osman Özdogan, Cristina Sole, Jose Presa Ramos, Heinz Zoller, Manuela Merli, Flemming Bendtsen, Thomas Berg, Alexander Zipprich, Pietro Gatti, Juan Acevedo, Martin Janicko, Frank Erhard Uschner, Carmine Gabriele Gambino, Giacomo Zaccherini, Xianbo Wang, Xin Zheng, Guohong Deng, Yan Huang, Zhongji Meng, Yanghang Gao, Zhiping Qian, Xiaobo Lu, Feng Lui, Yu Shi, Jia Shang, Yubao Zheng, Yingli He, Sunil Taneja, Pratibha Garg, Hans Van Vlierberghe, Christian Steib, Rudolf Stauber, German Soriano, Raj Mookerjee, Henning Gronbaek, Andrea De Gottardi, Minneke Coenraad, Rafael Banares, Stefan Zeuzem, Alexander Gerbes, Marco Domenicali, Faouzi Saliba, Francois Durand, Hai Li, Ajay Duseja, Jinjun Chen, Rajiv Jalan

Faculty, Staff and Students Publications

No abstract provided.

Cerebellar Atrophy In Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study, Rebecca Macrae, Kierstin Hederstedt, Christopher Cortina, Kumaran Deiva, Andrea Klein, Ming Lim, Thomas Rossor, Elizabeth A Sokol, Yasmin Khakoo, Nikita Malani Shukla, Timothy E Lotze, Wendy G Mitchell, Sarah Hopkins, Bo Zhang, Mark P Gorman

Faculty, Staff and Students Publications

Background and objectives: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry.

Methods: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test.

Results: Of participants with follow-up imaging, cerebellar atrophy …

Language-Serving Hospitals And Seven-Day Readmission Among Patients With A Non-English Primary Language, Alyssa N Jones, Brittany M Dacier, Jesus Mejia, Benjamin G Allar, Rachel E Murphy, Regan W Bergmark, Esteban F Gershanik, Alicia Fernandez, Andrea L Pusic, Gregory L Peck, David W Bates, Gezzer Ortega

Faculty, Staff and Students Publications

Objectives. To compare 7-day readmission among patients with a non-English primary language in language-serving versus non-language-serving hospitals.

Methods. We conducted a retrospective cohort study using the New Jersey State Inpatient Database (2010-2022). We identified 578 030 inpatient discharges home among patients with a non-English primary language. We used generalized linear mixed models to compare 7-day readmission between language-serving hospitals-defined as those with a higher proportion of patients with a non-English primary language-and non-language-serving hospitals.

Results. Patients with a non-English primary language were less likely to be readmitted within 7 days at language-serving versus non-language-serving hospitals (4.8% vs 9.8%; adjusted odds …

Nf1 Loss In Estrogen Receptor-Positive Breast Cancer Induces Osteoclast Formation And Immunosuppression To Promote Bone Metastasis, Zifan Zhao, Ze-Yi Zheng, Jonathan T Lei, Matthew J Baik, Yi-Hsuan Wu, Lauren K Somes, Andres F Mosquera Paternina, Omar A Harb, Owen A Chang, Fengshuo Liu, Matthew V Holt, Junkai Wang, Igor Bado, Hai Wang, George Miles, Zbigniew Gugala, Meenakshi Anurag, Ahmed Elkhanany, Yi Li, Valentina Hoyos, Xiang H-F Zhang, Eric C Chang

Faculty, Staff and Students Publications

Estrogen receptor-positive (ER+) breast cancer exhibits a marked propensity for skeletal metastasis; however, the molecular drivers of bone colonization remain incompletely defined. We investigated the tumor suppressor neurofibromin (NF1), a dual repressor for RAS and ER signaling, whose inactivation promotes endocrine therapy (ET) resistance and is associated with inferior relapse-free survival. NF1 copy number loss was detected in 62% of ER+ patients who subsequently developed metastases and was associated with an increased likelihood of bone metastases at initial diagnosis. In mouse xenograft models, NF1-depleted ER+ breast cancer cells demonstrated enhanced dissemination to skeletal sites following surgical resection of primary tumors. …

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

Duncan NRI Faculty and Staff Publications

Purpose: Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates across calendar periods, WHO classification editions, geographical settings, and healthcare systems.thetermine METHODS: We analyzed 4,111 patients with primary WHO-1/-2 meningiomas from 31 centers in 15 countries (1990-2019). Recurrence was defined according to local radiological assessment. The 5- and 10-year recurrence risks were estimated using regression standardization with inverse probability of censoring weights, adjusting for key clinical, surgical, and histopathological variables.

Results: Recurrence risk …

Identifying And Addressing Problematic Studies In Allergy And Asthma Research: A Commentary, Alexandro W L Chu, Gordon H Guyatt, Jason W Busse, Romina Brignardello-Petersen, Xiajing Chu, Daniel G Rayner, Paul Oykhman, Vanessa Wong, Yetiani Roldan, Diane R Baker, Leonard B Bacharier, Lisa A Beck, Moshe Ben-Shoshan, Bradley Chipps, Flavia Hoyte, Elliot Israel, David M Lang, Sameer K Mathur, Sharmilee M Nyenhuis, Paul M O'Byrne, Eric T Oliver, John Oppenheimer, Tamara T Perry, Katherine Rivera-Spoljaric, Sarbjit S Saini, Javed Sheikh, Kaharu Sumino, Susan Waserman, Elissa M Abrams, Aikaterini Anagnostou, Jonathan A Bernstein, Anne K Ellis, David B K Golden, Caroline C Horner, Dennis K Ledford, Jay Lieberman, Giselle Mosnaim, Matthew A Rank, Marcus Shaker, Julie Wang, David A Khan, Derek K Chu

Center for Medical Ethics and Health Policy Staff Publications

Randomized controlled trials underpin evidence-based medicine, but a growing proportion of trials contain implausible, inaccurate, or fabricated data. When such studies are incorporated into systematic reviews, they distort effect estimates, inflate evidence certainty, and can mislead the guideline recommendations that the reviews aim to inform. Within 8 recent American Academy of Allergy, Asthma & Immunology and American College of Allergy, Asthma and Immunology Joint Task Force on Practice Parameters (JTFPP) systematic reviews, 17% of trials published between 2021 and 2024 were problematic, and in a network meta-analysis of antihistamines for chronic urticaria, 39% of recent trials were excluded because of …

Evaluation Of A Multiantigen Mrna Vaccine Against Eehv1a In Asian Elephants, Lauren Farris, Jessica Watts, Jeroen Pollet, Christine Molter, Sarah Cannizzo, Michael Wenninger, Jessica Heinz, Rebecca Eddy, Jessica Emerson, Dewey Maddox, Paul D Ling

Faculty, Staff and Students Publications

Elephant endotheliotropic herpesvirus (EEHV) is endemic in Asian elephants and can cause fatal hemorrhagic disease (HD) in juveniles, with calves aged 1-8 years being most vulnerable, particularly following the decline of maternal antibodies. Current supportive treatments, which commonly include fluids, plasma infusions, and human anti-herpesvirus drugs, are not consistently effective, highlighting the urgent need for preventative strategies. To address this challenge, we generated an EEHV1A multi-antigen mRNA vaccine targeting four conserved herpesvirus entry proteins (gB, gH, gL, and gO), which elicited robust humoral and cellular immune responses in mice without adverse effects. Based on these preclinical findings, a vaccine trial …

First Evidence Of Clinical Protection From An Eehv1a Mrna Vaccine In Naturally Infected Juvenile Elephants, Michael Wenninger, Lauren Farris, Jessica Heinz, Rongsheng Peng, Gary S Hayward, Jessica Watts, Jeroen Pollet, Jenny Nollman, Paul D Ling

Faculty, Staff and Students Publications

Juvenile Asian elephants who have lost maternal antibodies are particularly susceptible to fatal hemorrhagic disease caused by primary infection with elephant endotheliotropic herpesvirus 1A (EEHV1A). To address this vulnerability, a multi-antigen EEHV1A mRNA vaccine has been administered to EEHV1A seronegative calves at four institutions. However, the extent to which this vaccine confers protective immunity remains an open question. In November 2023, two juvenile male calves (aged 6 and 7 years) were transferred from Dublin Zoo to the Cincinnati Zoo and Botanical Garden and confirmed to be seronegative for EEHV1A. Both calves received an experimental EEHV1A mRNA vaccine in October 2024, …

New Publishing Benefit For Tmc Authors: Mdpi, Joanne Romano

TMC Library Newsletter (2015-)

Publishing with MDPI? TMC-affiliated authors can now take advantage of new benefits through MDPI's Institutional Open Access Program (IOAP), including a discount on article processing charges (APCs) when publishing in MDPI journals.

Planning to publish? Learn more about the MDPI author benefit and how to take advantage of your TMC affiliation: Publishing Support at the TMC Library: MDPI

Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza

Duncan NRI Faculty and Staff Publications

Background: Bipolar disorder (BD) features episodic shifts among mania, hypomania, depression, mixed states, and euthymia. Timely detection of mood transitions is difficult due to infrequent clinical touchpoints. Digital health technologies, including wearables and smartphones, offer a unique opportunity to passively and continuously monitor behavior and physiology that could reflect underlying mood dynamics in real-world settings.

Objective: This study aimed to systematically review passively collected digital markers for BD mood states, characterize devices/modalities and analytic approaches, appraise risk of bias, and identify design gaps and priorities for clinical translation.

Methods: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) …

Enhancing Diagnostic Safety: Addressing Knowledge Gaps For Using Human Factors Tools In The Safe And Effective Use Of Ai - A Proposed Research Agenda, Emily S Patterson, Grayson L Baird, David Bates, Jeff Brady, Kenneth R Catchpole, Linda Gangai, Mark Graber, Ayse P Gurses, Charles E Kahn, Elizabeth A Krupinski, Soundar Kumara, Chris Mamrol, Kristen E Miller, Timothy J Mosher, Sarah E Parker, Mary D Patterson, Susan Shelmerdine, Joshua Streit, Charlotte Van Sassen, Michael H Kanter, Melissa Carraway, Michael A Bruno

Faculty, Staff and Students Publications

Introduction: Identify knowledge gaps in applying artificial intelligence in clinical settings, using medical imaging as a primary use case to enhance diagnostic efficacy, efficiency, and patient and provider safety.

Methods: We convened a two-day workshop with 18 interdisciplinary experts from three countries. Experts represented quality and patient safety, human factors and systems engineering, radiology and other medical specialties, nursing, medical informatics, cognitive and perceptual psychology, psychometrics and statistics, and machine learning, drawn from academia, industry, health systems, and government.

Results: We identified by consensus six major knowledge-gap domains, with specific research questions for each domain: development, validation, integration and sustainability; …

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, …

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 …

Automated Flim-Fret Segmentation Within Rnp Condensates, Noah D Powell, Joshua M Marcus, Leyla E Fahim, Jason E Lee

Faculty, Staff and Students Publications

Ribonucleoprotein (RNP) condensates are membraneless organelles that exist alongside many RNA-driven processes, such as transcription and splicing. Despite their ubiquity, the biological necessity of forming a condensed phase remains unclear, particularly because the same RNP components exist both within these organelles and in the surrounding dilute phase. Most current methods for studying biochemical interaction dynamics within condensates rely on in vitro reconstitution of minimal factors or low-throughput single-molecule studies. However, RNP condensates are complex organelles containing tens to hundreds of proteins and hundreds to thousands of different RNAs. Here, we describe a scalable, high-throughput fluorescence microscopy–based approach to analyze protein–protein …

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 …

Protocadherin 9 Promotes Cell Survival Of Different Bipolar Cell Types In The Developing Mouse Retina, Marlon F Mattos, Daniela Becerril, Jingyao Guo, Collin Todora, Cesiah C Gomez, Elizabeth Zuniga-Sanchez

Faculty, Staff and Students Publications

Neural circuit assembly relies on different neuronal types coming together to form a functional circuit. The question of how the appropriate number of each type is integrated into an emerging circuit remains relatively unknown. To answer this question, we used the mouse retina to uncover the molecular mechanisms responsible for neuron-type integration in a developing circuit. In the mammalian retina, bipolar cells (BCs) are a class of interneurons that relay visual information from photoreceptors to ganglion cells. Extensive studies have shown there are 15 distinct BC types: 6 types of OFF cone bipolars, 8 types of ON cone bipolars, and …

Conceptual Framework And Key Considerations For Field-Based Infrastructure In Food Is Medicine Research, Shreela V Sharma, Colleen Tewksbury, Christopher R Long, Colleen Spees, Ronit A Ridberg, Reshma Gupta, Erin P Ferranti, Naomi Tice, Eric Peterson, Brian Levine

Faculty, Staff and Student Publications

In 2023, the American Heart Association launched the Healthcare by Food (HCXF) initiative to establish a rigorous evidence base for Food Is Medicine (FIM) programs, so that patients with acute or chronic disease could access FIM programs as a covered benefit under their health insurance. The HCXF initiative is engaging in research, advocacy, and education to support the development and testing of interventions that improve health outcomes. The HCXF initiative launched 9 task forces aligned with research progress, including the Field-Based Infrastructure task force designed to examine broader questions to help support either earlier or later stages of the HCXF …

Addendum: Raf/Mek/Extracellular Signal-Related Kinase Pathway Suppresses Dendritic Cell Migration And Traps Dendritic Cells In Langerhans Cell Histiocytosis Lesions, Brandon Hogstad, Marie-Luise Berres, Rikhia Chakraborty, Jun Tang, Camille Bigenwald, Madhavika Serasinghe, Karen Phaik Har Lim, Howard Lin, Tsz-Kwong Man, Romain Remark, Samantha Baxter, Veronika Kana, Stefan Jordan, Zoi Karoulia, Wing-Hong Kwan, Marylene Leboeuf, Elisa Brandt, Helene Salmon, Kenneth Mcclain, Poulikos Poulikakos, Jerry Chipuk, Willem J M Mulder, Carl E Allen, Miriam Merad

Faculty, Staff and Students Publications

No abstract provided.

Online Group Neurobehavioral Therapy (Nbt) For Veterans With Epilepsy And Major Depressive Disorder (Mdd), Melissa F. Fadipe

Dissertations and Theses (Open Access)

Background: Veterans with epilepsy experience high rates of psychiatric comorbidity, most commonly major depressive disorder (MDD). Barriers to accessing mental health care—including geographic distance, transportation limitations related to seizure-related driving restrictions, and fragmented care between neurology and psychiatry, contribute to the underdiagnosis and undertreatment of MDD in this population. Neurobehavioral Therapy (NBT), a Cognitive Behavioral Therapy (CBT)-informed psychotherapy developed for individuals with seizures, has demonstrated benefits for psychological distress and quality of life. Internet-based interventions and short message service (SMS) text messaging offer promising strategies to address access barriers; however, limited research has examined the feasibility and acceptability of delivering …

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 …

Concerns With The Statistical Analysis In “Effect Of Combined Glp-1 Analogue And Bupropion/Naltrexone On Weight Loss: A Retrospective Cohort Study”, Thirupathi Reddy Mokalla, Henry T Robertson, Sherri Pals, David B Allison

Children’s Nutrition Research Center Staff Publications

No abstract provided.

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 …

Hyperadhesive Von Willebrand Factor Contributes To Pathogenesis Of Preeclampsia, Yajuan Wang, Chenyu Wang, Katie L Houck, Xiaoli Gao, Yuanyuan Chen, Xin Xu, Xue Zhao, Miguel A Cruz, Shu Zhang, Chester Q Li, Fengxia Xue, Min Li, Swati Shree, Jing-Fei Dong, Cha Han

Children’s Nutrition Research Center Staff Publications

Background: Preeclampsia is the most common complication of pregnancy, significantly affecting maternal and fetal health, and is characterized by placental and systemic endotheliopathy. Patients with preeclampsia have elevated levels of VWF (von Willebrand Factor), which is associated with poor clinical outcomes. However, whether VWF serves as a marker for endotheliopathy or contributes to the pathogenesis of preeclampsia remains poorly understood.

Methods: We investigated the role of hyperadhesive VWF in the development of preeclampsia by studying patients, evaluating mouse models, and performing in vitro experiments.

Results: We show that patients develop VWF- and fibrin-rich thrombosis in the placenta and have significantly …