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Articles 691 - 720 of 79082
Full-Text Articles in Medical Specialties
Transplantation And Mortality As Competing Outcomes Among Patients On Dialysis With Newly Diagnosed Cancer: A Longitudinal Cohort Study, Ryan Gately, Eric A. Engels, Dharshana Sabanayagam, Armando Teixeira-Pinto, Scott Campbell, Carmel Hawley, Wai Lim, Germaine Wong
Transplantation And Mortality As Competing Outcomes Among Patients On Dialysis With Newly Diagnosed Cancer: A Longitudinal Cohort Study, Ryan Gately, Eric A. Engels, Dharshana Sabanayagam, Armando Teixeira-Pinto, Scott Campbell, Carmel Hawley, Wai Lim, Germaine Wong
Research outputs 2022 to 2026
Rationale & Objective: A cancer diagnosis is associated with complex risks for patients that may influence survival and access to transplantation. This study characterized the probability and timing of cancer-related death, noncancer death, and transplantation among patients with an incident cancer diagnosis after dialysis initiation. Study Design: Longitudinal cohort study. Setting & Participants: In Australia and New Zealand, 2000-2021, 3,052 patients receiving dialysis, identified via the Australia and New Zealand Dialysis and Transplant Registry, with cancer diagnosed after they had started dialysis. Exposure: Cancer, categorized by type and stage. Outcome: Transplantation as well as cancer-related death and noncancer death for …
Global Disparities In Neurosurgical Literature: A Narrative Review Of Underrepresentation Of Low- And Middle-Income Countries And Pathways To Research Equity, Tirath Patel, Naveed Ahmad, Abbas Hussain, Bisma Faraz, Amna Binte Naeem, Urooj Sheraz, Laiba Noor, Saleha Khan, Muhammad Seerat Ali, Nikhilesh Anand
Global Disparities In Neurosurgical Literature: A Narrative Review Of Underrepresentation Of Low- And Middle-Income Countries And Pathways To Research Equity, Tirath Patel, Naveed Ahmad, Abbas Hussain, Bisma Faraz, Amna Binte Naeem, Urooj Sheraz, Laiba Noor, Saleha Khan, Muhammad Seerat Ali, Nikhilesh Anand
School of Medicine Publications
The global neurosurgical literature is dominated by high-income countries, with low- and middle-income countries (LMICs) contributing minimally despite bearing the most significant share of the neurosurgical disease burden. Underrepresentation limits equitable knowledge dissemination and the relevance of guidelines. The objective of this review was to assess neurosurgical publication disparities, identify deterrents to LMIC participation, and outline initiatives that foster equity and inclusion in research. This narrative review synthesized evidence on global disparities in neurosurgical literature through a structured search of PubMed, Scopus, and Google Scholar (2010–2025). Eligible studies examined research output, authorship trends, publication barriers, or equity initiatives. Findings mapped …
Targeting Oncogenic Flt3 Uncovers A Ferroptosis Vulnerability Through Selenocysteine Recoding In Acute Myeloid Leukaemia, Ken Furudate, Ayumi Kitano, Taotao Tan, Mengdie Feng, Jing Zhou, Tao Wang, Robert J Taylor, Alexandra M Stevens, Md Abul Hassan Samee, Jeffrey A Magee, Koichi Takahashi, Daisuke Nakada
Targeting Oncogenic Flt3 Uncovers A Ferroptosis Vulnerability Through Selenocysteine Recoding In Acute Myeloid Leukaemia, Ken Furudate, Ayumi Kitano, Taotao Tan, Mengdie Feng, Jing Zhou, Tao Wang, Robert J Taylor, Alexandra M Stevens, Md Abul Hassan Samee, Jeffrey A Magee, Koichi Takahashi, Daisuke Nakada
Faculty, Staff and Students Publications
Ferroptosis, an iron-dependent form of cell death driven by lipid peroxidation, has emerged as a potential therapeutic strategy for therapy-resistant cancers. Glutathione peroxidase 4 and the selenoprotein biosynthesis pathway essential for its translation are key regulators of ferroptosis but lack effective therapeutic targeting. In a drug screening using a selenoprotein translation reporter, here we identify FMS-like tyrosine kinase 3 (FLT3) inhibitors as suppressors of selenoprotein translation that induce ferroptosis in FLT3-mutant acute myeloid leukaemia. Mechanistically, FLT3 inhibition disrupts selenocysteine recoding, in which a UGA stop codon is recoded as selenocysteine via the SECIS element and associated binding proteins. Notably, the …
Nutrition Considerations In Youth With Type 2 Diabetes Using Glucagon-Like Peptide-1 Receptor Agonists: A Commentary
Faculty, Staff and Students Publications
No abstract provided.
Cost-Effectiveness Of Hes V2.0 And Galad For Hepatocellular Carcinoma Surveillance In Patients With Cirrhosis, Mary Linton B Peters, Ali Hajjar, Anthony E Samir, Leigh Anne Dageforde, Fasiha Kanwal, Jagpreet Chhatwal
Cost-Effectiveness Of Hes V2.0 And Galad For Hepatocellular Carcinoma Surveillance In Patients With Cirrhosis, Mary Linton B Peters, Ali Hajjar, Anthony E Samir, Leigh Anne Dageforde, Fasiha Kanwal, Jagpreet Chhatwal
Faculty, Staff and Students Publications
Background: Ultrasound-based surveillance for HCC is limited by suboptimal sensitivity and low adherence. Blood-based biomarkers are potential alternatives for routine HCC surveillance. We aimed to define optimal sensitivity, specificity, and cost parameters under which blood-based biomarkers could serve as cost-effective alternatives in patients with cirrhosis.
Methods: We developed a microsimulation model of the natural history of HCC in individuals with compensated cirrhosis. We compared the cost-effectiveness of biannual surveillance using 2 blood-based biomarkers-HES V2.0 and GALAD-versus ultrasound-based surveillance across a range of sensitivity, specificity, test costs, and adherence levels. Outcomes included quality-adjusted life years (QALYs), costs, and incremental cost-effectiveness ratios …
The Impact Of Hypoxia And Androgen Inhibition On Prostate Cancer Cell Dedifferentiation And The Dna Damage Repair Response At Telomeres, Arooba Ayaz
Biomedical Sciences Theses & Dissertations
Long-term Androgen deprivation therapy (ADT) is used to treat Prostate cancer (PCa) but is often met with resistance & the development of Neuroendocrine (NE) PCa which is rarer but more aggressive. Antiandrogens are a part of ADT that work to inhibit androgen receptor in PCa cells. In vitro, PCa cells under long-term antiandrogen treatment become NE-like and adopt stem-like characteristics. The disruption of androgen signaling though the use of antiandrogens impacts many cellular processes that play a major role in cancer cell proliferation such as the DNA damage repair response (DDR) and telomere dysfunction. In vivo, PCa tumors have disorganized …
Evaluation Of An Unbalanced Right Dominant Atrioventricular Canal With A Single 4d Flow Dataset., Stephen Ream, Laura Schoeneberg, Wilson King
Evaluation Of An Unbalanced Right Dominant Atrioventricular Canal With A Single 4d Flow Dataset., Stephen Ream, Laura Schoeneberg, Wilson King
Manuscripts, Articles, Book Chapters and Other Papers
Unbalanced atrioventricular (AV) canal anatomy presents a clinical challenge for the pediatric cardiology and cardiothoracic surgical team regarding the pre-operative assessment and ultimately, whether the optimal surgery should consist of a univentricular or biventricular repair. We present such a case of a patient with an unbalanced, right dominant, AV canal where a novel approach to preoperative imaging utilizing a relatively brief cardiac MRI consisting of a single 4D flow dataset was used to accurately assess ventricular volumes and AV valve sizes. This pre-operative imaging assessment was instrumental in the decision-making process for a successful single ventricle palliation for this patient.
Integrating Psychological Care Into Pediatric Sports Medicine: Levels Of Collaboration And Common Referral Concerns., Chelsey Bowman, Sabrina Gretkierewicz, Jacqueline M. Pabis, Abigail Bushnell, Rachel Sweenie, Casey Lawless, Jamie Shoop, Morgan Daffin, Emily J. Stapleton, Kirby Knapp, Catherine Butz
Integrating Psychological Care Into Pediatric Sports Medicine: Levels Of Collaboration And Common Referral Concerns., Chelsey Bowman, Sabrina Gretkierewicz, Jacqueline M. Pabis, Abigail Bushnell, Rachel Sweenie, Casey Lawless, Jamie Shoop, Morgan Daffin, Emily J. Stapleton, Kirby Knapp, Catherine Butz
Manuscripts, Articles, Book Chapters and Other Papers
It is well established that psychological factors impact sport injuries, recovery, and return to sport among youth athletes. Medical associations and sport governing bodies have advocated for the assessment and intervention of mental health concerns among athletes. However, there is less research on methods of incorporating pediatric psychology services within sports medicine (SM) settings. By drawing on the framework of the Substance Abuse and Mental Health Services Administration-Health Resources and Services Administration for understanding and implementing medical and behavioral health integration, this paper outlines various approaches to utilizing pediatric psychologists' expertise in the treatment of youth athletes. Specifically, the paper …
Computational And Ai Tools For Understanding Telomere-Associated Cancer Mechanisms, Eleni Adam
Computational And Ai Tools For Understanding Telomere-Associated Cancer Mechanisms, Eleni Adam
Computer Science Theses & Dissertations
Telomeres are the protective caps of the human chromosomes and are critical for genome stability. Dysfunctional telomeres caused by their erosion with age and cell proliferation as well as by defects in their maintenance is a major early event leading to genome changes and cancer. Subtelomeres possess the critical role of regulating adjacent telomeres. Due to their complex repeat structure and high variance from one person to another, these areas have not been analyzed in detail. We present a set of computational and machine learning tools to aid in the understanding of subtelomere structure and its rearrangements in cancer.
Initially, …
Dupilumab Versus Placebo In Adults And Adolescents With Eosinophilic Gastritis (Degas): A Double-Blind, Placebo-Controlled, Phase 2, Multicentre, Randomised Controlled Trial, Tetsuo Shoda, Regina Yearout, Seema S Aceves, Nicoleta C Arva, John A Besse, Julie M Caldwell, Mirna Chehade, Amaziah Coleman, Margaret H Collins, Sara Anvari, Gary W Falk, Sandeep K Gupta, Girish Hiremath, David A Katzka, Paneez Khoury, John Leung, Calies Menard-Katcher, Paul Menard-Katcher, Kathryn A Peterson, Maria A Pletneva, Amanda K Rudman Spergel, Jonathan M Spergel, Tatyana Vaysman, Joshua B Wechsler, Benjamin L Wright, Guang-Yu Yang, Xue Zhang, Meijian Zhou, Ashish Bansal, Bram P Raphael, Amr Radwan, Jennifer Maloney, Antonio Martin, Yamo Deniz, Glenn T Furuta, Lisa J Martin, Marc E Rothenberg
Dupilumab Versus Placebo In Adults And Adolescents With Eosinophilic Gastritis (Degas): A Double-Blind, Placebo-Controlled, Phase 2, Multicentre, Randomised Controlled Trial, Tetsuo Shoda, Regina Yearout, Seema S Aceves, Nicoleta C Arva, John A Besse, Julie M Caldwell, Mirna Chehade, Amaziah Coleman, Margaret H Collins, Sara Anvari, Gary W Falk, Sandeep K Gupta, Girish Hiremath, David A Katzka, Paneez Khoury, John Leung, Calies Menard-Katcher, Paul Menard-Katcher, Kathryn A Peterson, Maria A Pletneva, Amanda K Rudman Spergel, Jonathan M Spergel, Tatyana Vaysman, Joshua B Wechsler, Benjamin L Wright, Guang-Yu Yang, Xue Zhang, Meijian Zhou, Ashish Bansal, Bram P Raphael, Amr Radwan, Jennifer Maloney, Antonio Martin, Yamo Deniz, Glenn T Furuta, Lisa J Martin, Marc E Rothenberg
Faculty, Staff and Students Publications
Background: Eosinophilic gastritis currently has no approved treatments and is postulated to be driven by type 2 inflammation. Dupilumab blocks type 2 cytokines IL-4 and IL-13 and has efficacy in multiple diseases characterised by type 2 inflammation, including eosinophilic oesophagitis. We aimed to assess the efficacy and safety of dupilumab in patients with eosinophilic gastritis.
Methods: DEGAS was a proof-of-concept, phase 2, multicentre, randomised controlled trial consisting of a 12-week, double-blind, placebo-controlled period, followed by a 24-week open-label extension period. Patients aged 12-70 years from 11 hospitals in the USA with histologically active eosinophilic gastritis (≥30 eosinophils per high-power field …
Future Prospects Of Pediatric Lung Transplantation
Future Prospects Of Pediatric Lung Transplantation
Faculty, Staff and Students Publications
This special issue of the Journal of Heart Transplantation Open is dedicated to Pediatric Thoracic Transplantation. The authors will discuss subjects related to pediatric lung transplantation such as access to donor organs, allograft dysfunction and role of functional status in outcomes.
Clingen Variant Curation Interface Workshops: Training Variant Scientists On An International Platform, Marina Distefano, Sahia M Bryant, Nadia Carstens, Rolanda S Julius, Aimé Lumaka, Madhuri Hegde, Joanne Ngeow, Joannella Morales, Matt W Wright, Heidi L Rehm, Sharon E Plon
Clingen Variant Curation Interface Workshops: Training Variant Scientists On An International Platform, Marina Distefano, Sahia M Bryant, Nadia Carstens, Rolanda S Julius, Aimé Lumaka, Madhuri Hegde, Joanne Ngeow, Joannella Morales, Matt W Wright, Heidi L Rehm, Sharon E Plon
Faculty, Staff and Students Publications
Purpose: The Clinical Genome Resource (ClinGen) is creating a central resource of clinically relevant genetic knowledge to improve genomic medicine. Dissemination and use of the ClinGen Resource is essential to ensure broad community uptake. We report on experiences and sustained use of ClinGen tools through engaging international genetics groups based in India, Africa, and Singapore in variant classification training workshops using the ClinGen Variant Curation Interface (VCI).
Methods: We developed pre- and postworkshop questionnaires and analyzed ClinGen tool use following the workshops. We evaluated organizational aspects and costs of creating a dedicated ClinGen VCI instance for each workshop.
Results: The …
Editorial: Spontaneous Bacterial Peritonitis-Redrawing Empiric Therapy In The Era Of Multidrug Resistance. Authors' Reply
Faculty, Staff and Students Publications
No abstract provided.
Clinical Recommendations For Remote Robotic Assisted Surgery From The Crsa 2025 International Consensus Conference, Yuman Fong, Dimitri A Raptis, Louis Kavoussi, Sherry M Wren, Dennis Fowler, Mehran Anvari, Francesco Bianco, Xiao Liang, Zheyong Li, Xiaoyu Yin, Micaela Piccoli, Saad Aldousari, John Marks, Baiyong Shen, Clifford Ko, Jelle Ruurda, Barbara Seeliger, Jeroen Hagendoorn, Rahila Essani, R Matthew Walsh, Dmitry Oleynikov, Stephanie B Jones, Vivek Bindal, Hyun Koo Kim, Woo Jin Hyung, Laleh Melstrom, Daniel Hashimoto, Francesco Celotto, Liaohai Leo Chen, Bryan M Burt, Kelly Lafaro, Fernando Elli, Yusef Kudsi, Francesca Ratti, Erik Wilson, Paolo Pietro Bianchi, Annette Morgan, Stephen T Bartlett, Laila Rashidi, Liu Yu, Bill Gawkins, Piet Hinoul, Bill Peine, Yanghee Woo, Mustafa Raoof, Daniel Jones, Supriya Deshpande, Jordana Bernard, Yulun Wang, Dieter C Broering, Pier Cristoforo Giulianotti
Clinical Recommendations For Remote Robotic Assisted Surgery From The Crsa 2025 International Consensus Conference, Yuman Fong, Dimitri A Raptis, Louis Kavoussi, Sherry M Wren, Dennis Fowler, Mehran Anvari, Francesco Bianco, Xiao Liang, Zheyong Li, Xiaoyu Yin, Micaela Piccoli, Saad Aldousari, John Marks, Baiyong Shen, Clifford Ko, Jelle Ruurda, Barbara Seeliger, Jeroen Hagendoorn, Rahila Essani, R Matthew Walsh, Dmitry Oleynikov, Stephanie B Jones, Vivek Bindal, Hyun Koo Kim, Woo Jin Hyung, Laleh Melstrom, Daniel Hashimoto, Francesco Celotto, Liaohai Leo Chen, Bryan M Burt, Kelly Lafaro, Fernando Elli, Yusef Kudsi, Francesca Ratti, Erik Wilson, Paolo Pietro Bianchi, Annette Morgan, Stephen T Bartlett, Laila Rashidi, Liu Yu, Bill Gawkins, Piet Hinoul, Bill Peine, Yanghee Woo, Mustafa Raoof, Daniel Jones, Supriya Deshpande, Jordana Bernard, Yulun Wang, Dieter C Broering, Pier Cristoforo Giulianotti
Faculty, Staff and Students Publications
Background: Implementation of remote robotic-assisted surgery (rRAS) has the potential to significantly improve access to high-quality surgical care for patients worldwide. Advances in robotic systems and telecommunications now enable highly reliable, low latency, and cybersecure connectivity. These technological developments, together with the broader adoption of telemedicine, have driven an increasing interest in the implementation of rRAS.
Methods: The Clinical Robotic Surgery Association (CRSA) convened a conference to develop international clinical recommendations for rRAS using the Danish Model of Consensus. The society identified five key issue categories and invited a panel of experts to address specific questions for each. Panel members …
Tumor-Infiltrating Natural Killer Cell Profiling For Therapeutic Stratification In Patients With Resectable Non-Small Cell Lung Cancer, Atsushi Ito, Sung Wook Kang, Hee-Jin Jang, Ji Seon Shim, Claire Lee, Priyanka Ranchod, Gena Lee, Sonali Mitra, Jiyeon Jeon, Ayu H Syarif, Yun Zhang, Jinyoung Byun, Younghun Han, Joshua Malo, Meera Patel, R Taylor Ripley, Shawn S Groth, Farrah Kheradmand, Bryan M Burt, Francesca Polverino, Christopher I Amos, Hyun-Sung Lee
Tumor-Infiltrating Natural Killer Cell Profiling For Therapeutic Stratification In Patients With Resectable Non-Small Cell Lung Cancer, Atsushi Ito, Sung Wook Kang, Hee-Jin Jang, Ji Seon Shim, Claire Lee, Priyanka Ranchod, Gena Lee, Sonali Mitra, Jiyeon Jeon, Ayu H Syarif, Yun Zhang, Jinyoung Byun, Younghun Han, Joshua Malo, Meera Patel, R Taylor Ripley, Shawn S Groth, Farrah Kheradmand, Bryan M Burt, Francesca Polverino, Christopher I Amos, Hyun-Sung Lee
Faculty, Staff and Students Publications
Objective: Neoadjuvant chemoimmunotherapy has improved outcomes in resectable non-small cell lung cancer, yet its real-world implementation is often challenged by surgical delays, immune-mediated fibrosis, and postoperative complications. Smokers with non-small cell lung cancer, despite a high risk for surgical morbidity, show enhanced responses to neoadjuvant chemoimmunotherapy. This study aimed to identify smoking-associated immune cell determinants that could guide treatment strategies.
Methods: Single-cell RNA sequencing was performed on 61 lung tissues from nonsmokers and smokers to identify smoking-related immune compositions. The single-cell RNA sequencing data from 19 invasive lung adenocarcinomas were used to validate their presence in the tumor-immune microenvironment. Bulk …
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
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 …
Quantitative Imaging Of Pyruvate Metabolism In A Patient With Anaplastic Thyroid Cancer, Yunyun Chen, Christopher M Walker, Philip L Lorenzi, Lin Tan, Vikas Kundra, Matthew E Merritt, Mukundan Ragavan, Dawid Schellingerhout, Renjie He, Yao Ding, Sahana Datar, Qing Wang, Christine B Peterson, Clifton D Fuller, Vlad C Sandulache, Stephen Y Lai
Quantitative Imaging Of Pyruvate Metabolism In A Patient With Anaplastic Thyroid Cancer, Yunyun Chen, Christopher M Walker, Philip L Lorenzi, Lin Tan, Vikas Kundra, Matthew E Merritt, Mukundan Ragavan, Dawid Schellingerhout, Renjie He, Yao Ding, Sahana Datar, Qing Wang, Christine B Peterson, Clifton D Fuller, Vlad C Sandulache, Stephen Y Lai
Faculty, Staff and Students Publications
Purpose: Magnetic resonance imaging using hyperpolarized (HP) [1-13C]-pyruvate enables assessment of pyruvate metabolism in vivo and offers new insight into metabolic changes in response to cancer therapy. Widely used semi-quantitative metrics of pyruvate metabolism can be affected by physiological factors that are extrinsic to intracellular metabolism. A validated pharmacokinetic (PK) model for analysis of intracellular pyruvate metabolism is needed to enhance the accuracy of quantitative metrics and clinical translation of metabolic MRI using HP pyruvate.
Methods: A PK model with two physical compartments and two chemical pools was developed to analyze the conversion of labeled pyruvate into lactate in vitro. …
Proteomic Signatures Of 3-Year Progression From Impaired Fasting Glucose To Diabetes: The Atherosclerosis Risk In Communities (Aric) Study, Keenan A Walker, Christie M Ballantyne, Eric Boerwinkle, Tanika N Kelly, Chiadi E Ndumele, James S Pankow, Morgan E Grams, Wendy S Post, Peter J Ganz, Alexis C Wood, Jerome I Rotter, Elizabeth Selvin, Josef Coresh
Proteomic Signatures Of 3-Year Progression From Impaired Fasting Glucose To Diabetes: The Atherosclerosis Risk In Communities (Aric) Study, Keenan A Walker, Christie M Ballantyne, Eric Boerwinkle, Tanika N Kelly, Chiadi E Ndumele, James S Pankow, Morgan E Grams, Wendy S Post, Peter J Ganz, Alexis C Wood, Jerome I Rotter, Elizabeth Selvin, Josef Coresh
Faculty, Staff and Students Publications
Objective: To identify proteomic signatures underlying 3-year progression from impaired fasting glucose (IFG) to diabetes.
Research design and methods: We examined IFG progression in the Atherosclerosis Risk in Communities (ARIC) study from visit 2 (1990-1992) to visit 3 (1993-1995). We tested associations of 4,955 plasma proteins (SomaScan version 4.0) with ∼3-year progression from IFG (FG 100-125 mg/dL without diabetes) to diabetes (diagnosis, medication, or FG ≥126 mg/dL) using logistic regression models adjusted for demographics, cardiometabolic risk factors, and baseline glucose with Bonferroni correction (P < 10-5). We explored biological pathways enriched among the top proteins and calculated improvements in prediction (ΔAUC and net reclassification using 3-year risk thresholds of 6% and 15% in 80% training and 20% internal validation subsamples). We validated results in the Multi-Ethnic Study of Atherosclerosis (MESA) cohort.
Results: There were 3,786 ARIC participants with IFG (mean [SD] age 57 [6] years, 52% female, …
Multi-Genome Benchmark For Simple And Complex Genome Inversion Detection, Siyuan Cheng, Fritz J Sedlazeck
Multi-Genome Benchmark For Simple And Complex Genome Inversion Detection, Siyuan Cheng, Fritz J Sedlazeck
Faculty, Staff and Students Publications
Background: Inversions represent a consequential yet under-characterized form of structural variation, with roles in genomic disorders, evolution, and genome instability. However, their detection remains technically challenging, particularly within repeat-dense regions and for complex multi-breakpoint events. A lack of dedicated, high-quality benchmarks has hindered algorithmic improvement, performance comparison, and robust biological interpretation.
Results: Here, we present a multi-genome benchmark for simple and complex inversions derived from Strand-seq and phased long-read based assemblies across five reference samples, with breakpoint refinement using haplotype-resolved long-read assemblies. This tiered resource spans a broad spectrum of inversion classes, sizes, and zygosity states, and captures challenging genomic …
Fibrinogen And Lipopolysaccharide Promote Tlr4-Dependent Glucocorticoid Resistance In Airway Mycosis-Driven Allergic Airway Disease, Y Zeng, X Huang, G Liang, K Tang, K E Mauk, H Sun, Y Zhang, Z Zeng, L Song, K Polsky, Y Wu, C T Landers, E Z Otukoya, L H Bimler, F Kheradmand, A U Luong, Y Guo, J M Knight, D B Corry
Fibrinogen And Lipopolysaccharide Promote Tlr4-Dependent Glucocorticoid Resistance In Airway Mycosis-Driven Allergic Airway Disease, Y Zeng, X Huang, G Liang, K Tang, K E Mauk, H Sun, Y Zhang, Z Zeng, L Song, K Polsky, Y Wu, C T Landers, E Z Otukoya, L H Bimler, F Kheradmand, A U Luong, Y Guo, J M Knight, D B Corry
Faculty, Staff and Students Publications
Glucocorticoid-refractory asthma is a severe disease type linked to both T helper type 2 (T2) high and T2 low, neutrophil-high asthma endotypes, but the mechanisms governing glucocorticoid resistance are largely unknown. We show that glucocorticoid-resistant mouse allergic airway disease is linked to airway mycosis and lung-specific production of fibrinogen cleavage products (cryptokines). Mice challenged with the allergenic fungus Aspergillus niger and low-dose inhaled lipopolysaccharide (LPS) showed exaggerated airway hyperresponsiveness (AHR), developed T2 high and neutrophilic airway inflammation recapitulating severe asthma. AHR was not attenuated by glucocorticoid therapy, but required expression of Toll-like receptor 4 (TLR4). Low-dose intranasal LPS alone induced …
Ixazomib With Chemotherapy For Childhood Relapsed Acute Lymphoblastic Leukemia: A Tacl Consortium Report, Jemily Malvar, Andrew Doan, Reuven J Schore, Teresa Rushing, Roy Leong, Sean Bujarski, Paul S Gaynon, Seth E Karol, Julio C Barredo, Susan R Rheingold, Van Huynh, Nathan P Gossai, Bill H Chang, Tamra Slone, Melinda Pauly, Alan S Wayne, Deepa Bhojwani, Terzah M Horton
Ixazomib With Chemotherapy For Childhood Relapsed Acute Lymphoblastic Leukemia: A Tacl Consortium Report, Jemily Malvar, Andrew Doan, Reuven J Schore, Teresa Rushing, Roy Leong, Sean Bujarski, Paul S Gaynon, Seth E Karol, Julio C Barredo, Susan R Rheingold, Van Huynh, Nathan P Gossai, Bill H Chang, Tamra Slone, Melinda Pauly, Alan S Wayne, Deepa Bhojwani, Terzah M Horton
Faculty, Staff and Students Publications
Ixazomib (MLN 9708) is an oral proteasome inhibitor, preclinically more potent than bortezomib, that is currently US Food and Drug Administration–approved for the treatment of multiple myeloma. We conducted a phase 1/2 study to estimate the maximum tolerated dose, recommended phase 2 dose (RP2D), and early efficacy of ixazomib when combined with chemotherapy in pediatric patients with relapsed/refractory (R/R) acute lymphoblastic leukemia (ALL) and lymphoblastic lymphoma (LL). Patients aged ≤21 years with R/R ALL/LL (including Down syndrome) were eligible. Ixazomib was combined with up to 3 different 28-day blocks of well-established, relapsed ALL chemotherapy. Ixazomib was tested at 2 dose …
The Crisis Of Adolescent Firearm Reinjury: A 14-Year Retrospective Cohort Analysis, Zoe M Miller, Taylor Kaser, Benjamin P Cooper, Christopher Behr, Lindsay Clukies, Joseph Finney, Marguerite W Spruce, Lindsay M Kranker, Michael A Mancini, Melissa Kroll, Erin G Dawson, Matt Vogel, Rachel M Ancona, Vicki Moran, Melik Coffey, Kateri-Chapman Kramer, Doug J E Schuerer, Elvin Geng, Megan L Ranney, Randi E Foraker
The Crisis Of Adolescent Firearm Reinjury: A 14-Year Retrospective Cohort Analysis, Zoe M Miller, Taylor Kaser, Benjamin P Cooper, Christopher Behr, Lindsay Clukies, Joseph Finney, Marguerite W Spruce, Lindsay M Kranker, Michael A Mancini, Melissa Kroll, Erin G Dawson, Matt Vogel, Rachel M Ancona, Vicki Moran, Melik Coffey, Kateri-Chapman Kramer, Doug J E Schuerer, Elvin Geng, Megan L Ranney, Randi E Foraker
Faculty, Staff and Students Publications
Background: Firearm injuries are the leading cause of death among US adolescents. Adolescents are among the highest risk, and those with nonfatal injuries experience high rates of reinjury. Identifying factors that predict firearm reinjury among adolescents may support tailored prevention strategies. This study sought to identify factors associated with firearm reinjury among adolescents who presented with acute nonfatal firearm injury in the St. Louis, Missouri region.
Methods: We conducted a multicenter observational cohort study of youth aged 15 to 17 years presenting to 2 adult and 2 pediatric trauma centers from 2010 through 2023. We collected data on firearm-injured patient …
Increased Risk Of Sarcomas In Children With Congenital Anomalies: Findings From The Genetic Overlap Between Anomalies And Cancer In Kids (Goback) Registry Linkage Study, Tania A Desrosiers, Michael E Scheurer, Charles Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Yao Yu, Chad D Huff, Sharon E Plon, Philip J Lupo, Jeremy M Schraw
Increased Risk Of Sarcomas In Children With Congenital Anomalies: Findings From The Genetic Overlap Between Anomalies And Cancer In Kids (Goback) Registry Linkage Study, Tania A Desrosiers, Michael E Scheurer, Charles Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Yao Yu, Chad D Huff, Sharon E Plon, Philip J Lupo, Jeremy M Schraw
Faculty, Staff and Students Publications
Background: Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated.
Procedure: We obtained data on maternal and perinatal characteristics, congenital anomalies, and pediatric sarcoma diagnoses for all live births in nine states. We used Cox proportional hazards regression to estimate the hazard ratio (HR) and 95% confidence interval (CI) of sarcoma (overall and by subtype) among children with non-syndromic congenital anomalies. We considered all non-syndromic …
Long-Term Outcomes In Seronegative Rheumatoid Arthritis, Sara J Achenbach, Elizabeth J Atkinson, Vanessa L Kronzer, John M Davis, Elena Myasoedova
Long-Term Outcomes In Seronegative Rheumatoid Arthritis, Sara J Achenbach, Elizabeth J Atkinson, Vanessa L Kronzer, John M Davis, Elena Myasoedova
Faculty, Staff and Students Publications
Objective: The purpose of this study was to determine the cumulative incidence of diagnosis switching, drug-free remission, and initiation of a biologic or targeted synthetic disease-modifying antirheumatic drug (b/tsDMARD) in individuals with seronegative rheumatoid arthritis (RA).
Methods: Adult residents of Olmsted County, Minnesota, with incident seronegative (rheumatoid factor negative/anti-cyclic citrullinated peptide antibody negative) RA meeting the 1987 and/or 2010 American College of Rheumatology classification criteria were included. Data were collected from January 1, 2005, to December 31, 2023, through manual chart review. Drug-free remission was defined as a period of at least six months where the individual was no longer …
Adrenal Crises And Quality Of Life After Bilateral Adrenalectomy Vs Primary Autoimmune Adrenal Insufficiency, Sanan Mahrokhian, Sara J Achenbach, Elizabeth J Atkinson, Anand Vaidya, Irina Bancos
Adrenal Crises And Quality Of Life After Bilateral Adrenalectomy Vs Primary Autoimmune Adrenal Insufficiency, Sanan Mahrokhian, Sara J Achenbach, Elizabeth J Atkinson, Anand Vaidya, Irina Bancos
Faculty, Staff and Students Publications
Context: Bilateral adrenalectomy (BLA) and autoimmune adrenal insufficiency (AAI) are 2 major causes of primary adrenal insufficiency (PAI). Comparative data between etiologies are limited.
Objective: To compare management, quality of life (QoL), and frequency of adrenal crises between participants post-BLA vs AAI.
Methods: We conducted a dual-center, cross-sectional study of adults with AAI or BLA between 2018 and 2025. All participants completed questionnaires on management, adrenal crises, and the Addison Disease-specific QoL Questionnaire (AddiQoL).
Results: Of 343 participants, 203 had AAI (median age 54 years, 72% women) and 139 had BLA (median age 57 years, 76% women). AddiQoL scores were …
Beyond Language: Generative Artificial Intelligence As A General Computing Model For Medicine
Beyond Language: Generative Artificial Intelligence As A General Computing Model For Medicine
Faculty, Staff and Students Publications
In this Viewpoint, we advocate for direct tokenisation of medical data by breaking them into discrete units, such as laboratory results, medications, and vital signs, similar to word tokenisation in language models. This approach enables transformer-based models to learn from the temporal structure of patient health timelines without relying on textual translation, potentially leading to more accurate and personalised care. Enhanced Transformer for Health Outcome Simulation, an example of a model that uses tokenisation, forecasts health timelines and supports clinical decision making using tokenised medical records. We outline a privacy-preserving model-sharing framework, in which models are trained locally and only …
Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson
Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson
Faculty, Staff and Students Publications
Objective: Transition between pediatric and adult health care is complex, with high risk for loss to follow-up and suboptimal health outcomes for young adults with type 1 diabetes. This trial evaluated the efficacy of DiaBetter Together, a 12-month strengths-based behavioral intervention delivered by trained peer mentors. The intervention aimed to help young adults navigate the transfer process to promote optimal glycemic outcomes, shorten time to adult care follow-up, and improve psychosocial outcomes.
Research design and methods: Using a single-site randomized clinical trial design, we compared the 12-month intervention to usual care among n = 100 young adults aged 17-25 years …
Obsessive-Compulsive Training Experiences In United States (Us) Medical School Education Programs, Megan C Alam, Juliana E Avery, Hannah C Moore, Gian Depamphilis, Megan M Dailey, Caitlin M Pinciotti, Andrew D Wiese, Wayne K Goodman, Eric A Storch
Obsessive-Compulsive Training Experiences In United States (Us) Medical School Education Programs, Megan C Alam, Juliana E Avery, Hannah C Moore, Gian Depamphilis, Megan M Dailey, Caitlin M Pinciotti, Andrew D Wiese, Wayne K Goodman, Eric A Storch
Faculty, Staff and Students Publications
Objective: To evaluate the content and structure of OCD-specific training within United States osteopathic (D.O.) and allopathic (M.D.) medical schools. Although many physicians encounter patients with obsessive-compulsive disorder (OCD) in clinical practice, limited familiarity with the full range of OCD presentations, including typical and atypical forms, may contribute to misdiagnosis and delays in accurate diagnosis and treatment.
Methods: Respondents from 35 of the 154 (22.73%) medical schools within the United States (28 (80%) allopathic, 7 (20%) osteopathic schools) completed a survey assessing demographics, school information, and OCD-focused training within medical school curriculums. Descriptives were gathered to characterize the level of …
Virus Reactivation In Acute And Long Covid-19, Cole Maguire, Jing Chen, Nadine Rouphael, Brinkley A Morse, Annmarie Hoch, Harry Pickering, Hoang Van Phan, Abigail Glascock, Victoria Chu, Ravi Dandekar, David Corry, Farrah Kheradmand, Lindsey R Baden, Rafick-Pierre Sekaly, Grace A Mccomsey, Elias K Haddad, Charles B Cairns, Bali Pulendran, Ana Fernandez-Sesma, Viviana Simon, Jordan P Metcalf, Nelson I Agudelo Higuita, William B Messer, Mark M Davis, Kari C Nadeau, Monica Kraft, Chris Bime, Joanna Schaenman, David Erle, Carolyn S Calfee, Mark A Atkinson, Scott C Brakenridge, Lauren I R Ehrlich, Ruth R Montgomery, Albert Shaw, Catherine L Hough, David Hafler, Alison D Augustine, Patrice M Becker, Bjoern Peters, Al Ozonoff, Seunghee Kim-Schulze, Florian Krammer, Steven E Bosinger, Walter Eckalbar, Matthew C Altman, Michael Wilson, Leying Guan, Steven H Kleinstein, Kinga K Smolen, Elaine F Reed, Ofer Levy, Holden Maecker, Peter Hunt, Hanno Steen, Joann Diray-Arce, Charles R Langelier, Esther Melamed
Virus Reactivation In Acute And Long Covid-19, Cole Maguire, Jing Chen, Nadine Rouphael, Brinkley A Morse, Annmarie Hoch, Harry Pickering, Hoang Van Phan, Abigail Glascock, Victoria Chu, Ravi Dandekar, David Corry, Farrah Kheradmand, Lindsey R Baden, Rafick-Pierre Sekaly, Grace A Mccomsey, Elias K Haddad, Charles B Cairns, Bali Pulendran, Ana Fernandez-Sesma, Viviana Simon, Jordan P Metcalf, Nelson I Agudelo Higuita, William B Messer, Mark M Davis, Kari C Nadeau, Monica Kraft, Chris Bime, Joanna Schaenman, David Erle, Carolyn S Calfee, Mark A Atkinson, Scott C Brakenridge, Lauren I R Ehrlich, Ruth R Montgomery, Albert Shaw, Catherine L Hough, David Hafler, Alison D Augustine, Patrice M Becker, Bjoern Peters, Al Ozonoff, Seunghee Kim-Schulze, Florian Krammer, Steven E Bosinger, Walter Eckalbar, Matthew C Altman, Michael Wilson, Leying Guan, Steven H Kleinstein, Kinga K Smolen, Elaine F Reed, Ofer Levy, Holden Maecker, Peter Hunt, Hanno Steen, Joann Diray-Arce, Charles R Langelier, Esther Melamed
Faculty, Staff and Students Publications
Chronic viral infections are ubiquitous in humans, with individuals carrying multiple viruses that can reactivate during physiological stress, including severe illness1. Notably, SARS-CoV-2 infection has been shown to reactivate chronic viruses such as Epstein–Barr virus and cytomegalovirus, yet the full extent, temporal dynamics and immunological impact of viral reactivation in COVID-19 remain incompletely understood2–7. Here, leveraging multi-omic longitudinal data from 1,154 hospitalized patients with COVID-19 from the Immunophenotyping Assessment in a COVID-19 Cohort (IMPACC) study, we reveal significant reactivation of Herpesviridae and Anelloviridae during acute COVID-19, with distinct temporal dynamics for different viruses, and …
Multi-Level Disparities In Survival Among Patients Diagnosed With Oral Cavity Cancer In Texas Between 1995 And 2020, Melissa F Peskin, Cici Bauer, Caitlin C Murphy
Multi-Level Disparities In Survival Among Patients Diagnosed With Oral Cavity Cancer In Texas Between 1995 And 2020, Melissa F Peskin, Cici Bauer, Caitlin C Murphy
Faculty, Staff and Students Publications
Background: Multi-level factors, including demographic and neighborhood social conditions, related to disparities in oral cavity cancer (OCC) are not fully understood. We examined the association between these factors and survival outcomes among patients diagnosed with OCC.
Methods: We identified 14,416 patients diagnosed with OCC from 1995 to 2020 using population-based data from the Texas Cancer Registry. Neighborhood-level social vulnerability was measured using the 2010 US Centers for Disease Control and Prevention's Neighborhood Social Vulnerability Index (CDC-SVI). We examined race and ethnicity, CDC-SVI (as sample-based quintiles), and their joint effects with survival outcomes.
Results: Five-year survival probability was 38.6% (95% CI: …