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Full-Text Articles in Medicine and Health Sciences

An Exciting Future For Microbial Molecular Biology And Physiology, Andrew A Bridges, Leah Guthrie, Mckenzie Lehman, Elizabeth H Kellogg, Samantha Wellington Miranda, Andrew Pountain, Anthony L Shiver, Andrew Varble, Molecular Biology And Physiology Community Of The Council On Microbial Sciences, Heidi B Kaplan, Elizabeth A Shank, Gisela Storz Aug 2025

An Exciting Future For Microbial Molecular Biology And Physiology, Andrew A Bridges, Leah Guthrie, Mckenzie Lehman, Elizabeth H Kellogg, Samantha Wellington Miranda, Andrew Pountain, Anthony L Shiver, Andrew Varble, Molecular Biology And Physiology Community Of The Council On Microbial Sciences, Heidi B Kaplan, Elizabeth A Shank, Gisela Storz

Faculty, Staff and Student Publications

Continuous advances in technologies ranging from deep sequencing and genetic manipulation to mass spectrometry, single cell imaging, and structural biology have led to previously unimaginable advances in our understanding of microbial physiology and the molecular mechanisms underlying microbial responses in a multitude of environments. Simultaneously, these advances are revealing how much more there is to learn. At the 2024 virtual retreat of the Molecular Biology and Physiology (MBP) Community of the Council on Microbial Sciences (COMS) of the American Society for Microbiology (ASM), eight early-career investigators, along with retreat attendees, discussed some of these astounding advances, as well as the …


The Effects Of Moderate-Intensity Physical Exercise And Yoga Interventions On Stress In Hispanic College Students: A Pilot Study, Hongxing Lu, Florentino Saenz, Preethi Raju, Ednia Gutierrez, Sue Anne Chew, Saraswathy Nair Aug 2025

The Effects Of Moderate-Intensity Physical Exercise And Yoga Interventions On Stress In Hispanic College Students: A Pilot Study, Hongxing Lu, Florentino Saenz, Preethi Raju, Ednia Gutierrez, Sue Anne Chew, Saraswathy Nair

Health & Biomedical Sciences Faculty Publications

Background: Hispanic college students face high stress, which may increase their risk for chronic stress-related health issues. Effective and accessible stress management strategies for this population remain limited. Objective: This pilot study filled a gap by studying the effects of psychological stress on diet and physical activity habits and evaluating the impact of moderate-intensity physical exercise (MIPE) and yoga interventions on chronic psychological stress and acute stress responses among Hispanic college students. Methods: A total of 18 Hispanic college students participated in a 6-week intervention consisting of either MIPE or yoga, conducted twice weekly. Anthropometric measurements and lifestyle data were …


Advanced Specificity And Sensitivity Studies Relative To A Research Use Only Transcription-Mediated Amplification-Based Assay For Treponema Pallidum Rna Detection, Trinity Krueger, Grace Kadonsky, Elizabeth Thelen, Amanda Zapp, Josephine Moore, Ahmet Muslu, Allan Pillay, Irene A Stafford, Erik Munson Aug 2025

Advanced Specificity And Sensitivity Studies Relative To A Research Use Only Transcription-Mediated Amplification-Based Assay For Treponema Pallidum Rna Detection, Trinity Krueger, Grace Kadonsky, Elizabeth Thelen, Amanda Zapp, Josephine Moore, Ahmet Muslu, Allan Pillay, Irene A Stafford, Erik Munson

Faculty, Staff and Student Publications

Preliminary experimentation has suggested that a research-use-only real-time transcription-mediated amplification assay for Treponema pallidum (RUO T. pallidum TMA) yields instances of T. pallidum nucleic acid detection that coincide with non-treponemal serology in men who have sex with men (MSM) at increased risk for sexually transmitted infection. To further characterize the specificity of RUO T. pallidum TMA testing, 3,586 rectal swab specimens reported as “not detected” by the assay generated a mean endpoint FAM fluorescence of 637.5 units. Introduction of Treponema denticola, Treponema phagedenis, and Treponema refringens nucleic acid into matrices generated mean endpoint FAM fluorescence ranging from 620.7 …


Military Launching! To Adulthood: A Cultural Adaptation Of A Group Therapy Program For Military-Dependent Young Adults With Autism Spectrum Disorder Transitioning To Adulthood, Antonio F Pagán, Jordan Kenemore, Linda Hernandez, Stephen Armstrong, Katherine A Loveland, Mark Ahlenius, Ron Acierno Aug 2025

Military Launching! To Adulthood: A Cultural Adaptation Of A Group Therapy Program For Military-Dependent Young Adults With Autism Spectrum Disorder Transitioning To Adulthood, Antonio F Pagán, Jordan Kenemore, Linda Hernandez, Stephen Armstrong, Katherine A Loveland, Mark Ahlenius, Ron Acierno

Faculty, Staff and Student Publications

Objectives: The transition to adulthood poses distinct challenges for young adults with autism spectrum disorder (ASD) (ages 18-25), particularly in establishing and achieving long-term goals. This is further complicated for those within the military and veteran communities. This study aimed to evaluate the feasibility, acceptability, and cultural fit of "Launching! to Adulthood," a 12-week telehealth intervention, adapted for military-dependent young adults with ASD and their military/veteran parents.

Methods: Building on previous research and incorporating stakeholder feedback, the intervention addressed key transition challenges such as executive functioning, mental health, vocational skills, and social engagement, while also aligning with military cultural values. …


Ribosome Deficiency Induces Salmonella Filamentation Within Host Cells, Zhihui Lyu, Cierra Wilson, Kalyn Weiss, Spencer Lewis, Kurt Fredrick, William Margolin, Jiqiang Ling Aug 2025

Ribosome Deficiency Induces Salmonella Filamentation Within Host Cells, Zhihui Lyu, Cierra Wilson, Kalyn Weiss, Spencer Lewis, Kurt Fredrick, William Margolin, Jiqiang Ling

Faculty, Staff and Student Publications

The ribosome is the central hub for protein synthesis and is heavily targeted by antibiotics. Ribosomal mutations, antibiotic treatment, and nutrient starvation can alter translational efficiency and lead to stressed cells. Ribosome deficiency plays a critical role in stress responses and disease progression; yet, how it affects bacteria-host interactions remains poorly understood. In this study, we show that a ribosome-deficient strain exhibits a surprising morphological change from rod shape to filamentous in Salmonella cells growing inside host macrophages. Such filamentation depends on an acidic condition within macrophages and in a defined medium mimicking macrophage conditions. Further genetic analyses revealed that …


Csf-Exosomal Mirnas And Delayed Cerebral Ischemia: Insights Into Pathophysiology But No Definitive Biomarkers, Chathathayil M Shafeeque, Devin W Mcbride, Yuanqing Yan, Hussein A Zeineddine, John P Hagen, H Alex Choi, Jude P Savarraj, Ari Dienel, Spiros L Blackburn, Peeyush Kumar Thankamani Aug 2025

Csf-Exosomal Mirnas And Delayed Cerebral Ischemia: Insights Into Pathophysiology But No Definitive Biomarkers, Chathathayil M Shafeeque, Devin W Mcbride, Yuanqing Yan, Hussein A Zeineddine, John P Hagen, H Alex Choi, Jude P Savarraj, Ari Dienel, Spiros L Blackburn, Peeyush Kumar Thankamani

Faculty, Staff and Student Publications

Background: Aneurysmal subarachnoid hemorrhage (aSAH) is notoriously known for its high mortality and morbidity. Approximately one-third of the patients who survive aneurysm rupture are reported to develop delayed cerebral ischemia (DCI), which contributes to a poor clinical outcome. Currently, there are no biomarkers for identifying which aSAH patients are at risk of developing DCI. We aimed to determine the feasibility of cerebrospinal fluid (CSF) exosomal microRNAs (miRNAs) for predicting DCI post-aSAH.

Methods: aSAH patients were prospectively enrolled, and CSF samples were collected at two time points (< 24 h and 72 h post-aSAH) from individuals undergoing external ventricular drainage. Exosomal miRNAs were isolated from the CSF for analysis. In the initial group of patients (discovery cohort), an exploratory analysis was conducted using a CSF panel containing 84 miRNAs, assessed by quantitative real-time PCR (RT-qPCR). Based on this analysis, 27 miRNAs were selected for further evaluation in a second group of patients (validation cohort). Among these, 10 miRNAs had previously been reported in SAH-related CSF studies, supporting their relevance for continued investigation.

Results: In this study, RT-qPCR analysis of 84 miRNAs in CSF samples from …


Implementing A Delirium Risk Assessment Protocol For Older Adults To Reduce Post-Operative Delirium, Toni-Ann Thompson Aug 2025

Implementing A Delirium Risk Assessment Protocol For Older Adults To Reduce Post-Operative Delirium, Toni-Ann Thompson

Doctor of Nursing Practice Final Project Abstract

PURPOSE

This quality improvement project aimed to reduce post-operative delirium (POD) in patients aged 65 years and older in a post-anesthesia care unit (PACU) through the implementation of the Confusion Assessment Method (CAM) tool.

BACKGROUND

POD is a significant issue in the PACU, especially among older adults. POD can increase the length of stay in the PACU and hospital, and also increase rates of morbidity and mortality. Prior to this QI project, there was no standardized test being used to screen patients.

METHOLOGY

The Plan-Do-Study-Act (PDSA) cycle was used throughout the implementation of the confusion assessment tool to guide quality …


Identification Of Alkynyl Nicotinamide Hsn748 As A Ret Solvent-Front Mutant Inhibitor With Intracranial Efficacy, Ujjwol Khatri, Neetu Dayal, Kofi B Owusu, Mandeep Kaur Hunjan, Shriya Pandey, Haley Anne Harper, Carli Mcmahan, Bennett D Elzey, Tao Shen, Xueqing Hu, Kurt W Evans, Ahmed El-Sheikh, Seong Jun Jo, Frederick W Holtsberg, M Javad Aman, Funda Meric-Bernstam, Sukyung Woo, Herman O Sintim, Jie Wu Aug 2025

Identification Of Alkynyl Nicotinamide Hsn748 As A Ret Solvent-Front Mutant Inhibitor With Intracranial Efficacy, Ujjwol Khatri, Neetu Dayal, Kofi B Owusu, Mandeep Kaur Hunjan, Shriya Pandey, Haley Anne Harper, Carli Mcmahan, Bennett D Elzey, Tao Shen, Xueqing Hu, Kurt W Evans, Ahmed El-Sheikh, Seong Jun Jo, Frederick W Holtsberg, M Javad Aman, Funda Meric-Bernstam, Sukyung Woo, Herman O Sintim, Jie Wu

Faculty, Staff and Student Publications

RET solvent-front G810C/R/S mutations confer resistance to the currently approved RET protein tyrosine kinase inhibitors (TKIs) selpercatinib and pralsetinib. Moreover, RET fusion-positive lung adenocarcinoma frequently metastasizes to the brain. To address these challenges, it is imperative to develop a RET TKI that is effective against solvent-front mutations and exhibits intracranial activity. We synthesized alkynyl nicotinamide-based RET TKIs and tested their efficacy in cell cultures in inhibiting selpercatinib/pralsetinib-resistant RET solvent-front mutants G810C/R/S found in cancer patients, and in BaF3/KIF5B-RET(G810C) cell-derived subcutaneous and intracranial tumors in vivo. We also evaluated alkynyl nicotinamide RET TKIs in KIF5B-RET-induced lung tumors in immune competent …


Reduced Computed Tomography Scan Speed Improves Alignment Errors For Patients Undergoing Thoracic Stereotactic Body Radiation Therapy, Ramaswamy Sadagopan, Rachael M Martin-Paulpeter, Christopher R Peeler, Xiaochun Wang, Paige Nitsch, Julianne M Pollard-Larkin Aug 2025

Reduced Computed Tomography Scan Speed Improves Alignment Errors For Patients Undergoing Thoracic Stereotactic Body Radiation Therapy, Ramaswamy Sadagopan, Rachael M Martin-Paulpeter, Christopher R Peeler, Xiaochun Wang, Paige Nitsch, Julianne M Pollard-Larkin

Faculty, Staff and Student Publications

Objectives: We investigated the performance of a slow computed tomography (CT) protocol to reduce alignment errors arising from motion when using CT-on-rail (CTOR) for image guidance for patients receiving thoracic stereotactic body radiation therapy (SBRT).

Methods: A Quasar lung phantom with a moving tumor was programmed with three breathing rates and three motion amplitudes. MIP and average 4DCT images were used for contouring and alignment, respectively. Ten CTOR images were obtained for each of the breathing rates and amplitudes, under both CT protocols. We used in-house CAT software for image guidance, centering the tumor in the lung window …


Defining Treatment-Resistant Bipolar Depression: Recommendations From The Isbd Task Force, Eduard Vieta, Roger S Mcintyre, Trisha Suppes, Tamsyn E Van Rheenen, Balwinder Singh, Kamilla Woznica Miskowiak, Allan H Young, Lakshmi N Yatham, Kyooseob Ha, Michael Berk, Holly A Swartz, Chantal Henry, Maja Pantovic Stefanovic, Gerard Anmella Diaz, Aysegul Ozerdem, Wiesław J Cubała, Diego Hidalgo-Mazzei, Mauricio Tohen, Isabella Pacchiarotti, Paula Villela Nunes, Carlos Lopez-Jaramillo, Ana Gonzalez-Pinto, Paolo Brambilla, Robert Post, Jair C Soares, Michael Bauer, Ana C Andreazza, Xavier Justes Fradera, Montserrat Cosials-Lopez, Giovanna Fico Aug 2025

Defining Treatment-Resistant Bipolar Depression: Recommendations From The Isbd Task Force, Eduard Vieta, Roger S Mcintyre, Trisha Suppes, Tamsyn E Van Rheenen, Balwinder Singh, Kamilla Woznica Miskowiak, Allan H Young, Lakshmi N Yatham, Kyooseob Ha, Michael Berk, Holly A Swartz, Chantal Henry, Maja Pantovic Stefanovic, Gerard Anmella Diaz, Aysegul Ozerdem, Wiesław J Cubała, Diego Hidalgo-Mazzei, Mauricio Tohen, Isabella Pacchiarotti, Paula Villela Nunes, Carlos Lopez-Jaramillo, Ana Gonzalez-Pinto, Paolo Brambilla, Robert Post, Jair C Soares, Michael Bauer, Ana C Andreazza, Xavier Justes Fradera, Montserrat Cosials-Lopez, Giovanna Fico

Faculty, Staff and Student Publications

Objective: Despite the availability of approved treatments, a substantial proportion of patients with bipolar disorder experience treatment-resistant bipolar depression (TRBD), characterized by persistent depressive symptoms unresponsive to standard therapies. However, a universally accepted definition of TRBD is lacking. This consensus document, developed by the International Society for Bipolar Disorders (ISBD) Task Force on TRBD, aims to provide a standardized definition of TRBD to facilitate clinical trials, research, and treatment strategies.

Methods: The Task Force employed a literature review, clinical trials analysis, and expert consensus meetings to define TRBD.

Results: TRBD was defined as the failure to achieve a significant and …


Defining Treatment-Resistant Bipolar Depression: Recommendations From The Isbd Task Force, Eduard Vieta, Roger S Mcintyre, Trisha Suppes, Tamsyn E Van Rheenen, Balwinder Singh, Kamilla Woznica Miskowiak, Allan H Young, Lakshmi N Yatham, Kyooseob Ha, Michael Berk, Holly A Swartz, Chantal Henry, Maja Pantovic Stefanovic, Gerard Anmella Diaz, Aysegul Ozerdem, Wiesław J Cubała, Diego Hidalgo-Mazzei, Mauricio Tohen, Isabella Pacchiarotti, Paula Villela Nunes, Carlos Lopez-Jaramillo, Ana Gonzalez-Pinto, Paolo Brambilla, Robert Post, Jair C Soares, Michael Bauer, Ana C Andreazza, Xavier Justes Fradera, Montserrat Cosials-Lopez, Giovanna Fico Aug 2025

Defining Treatment-Resistant Bipolar Depression: Recommendations From The Isbd Task Force, Eduard Vieta, Roger S Mcintyre, Trisha Suppes, Tamsyn E Van Rheenen, Balwinder Singh, Kamilla Woznica Miskowiak, Allan H Young, Lakshmi N Yatham, Kyooseob Ha, Michael Berk, Holly A Swartz, Chantal Henry, Maja Pantovic Stefanovic, Gerard Anmella Diaz, Aysegul Ozerdem, Wiesław J Cubała, Diego Hidalgo-Mazzei, Mauricio Tohen, Isabella Pacchiarotti, Paula Villela Nunes, Carlos Lopez-Jaramillo, Ana Gonzalez-Pinto, Paolo Brambilla, Robert Post, Jair C Soares, Michael Bauer, Ana C Andreazza, Xavier Justes Fradera, Montserrat Cosials-Lopez, Giovanna Fico

Faculty, Staff and Student Publications

Objective: Despite the availability of approved treatments, a substantial proportion of patients with bipolar disorder experience treatment-resistant bipolar depression (TRBD), characterized by persistent depressive symptoms unresponsive to standard therapies. However, a universally accepted definition of TRBD is lacking. This consensus document, developed by the International Society for Bipolar Disorders (ISBD) Task Force on TRBD, aims to provide a standardized definition of TRBD to facilitate clinical trials, research, and treatment strategies.

Methods: The Task Force employed a literature review, clinical trials analysis, and expert consensus meetings to define TRBD.

Results: TRBD was defined as the failure to achieve a significant and …


Established And Emerging Asthma Biomarkers With A Focus On Biologic Trials: A Narrative Review, Philip F Lavere, Kaitlin M Phillips, Nicola A Hanania, Muhammad Adrish Aug 2025

Established And Emerging Asthma Biomarkers With A Focus On Biologic Trials: A Narrative Review, Philip F Lavere, Kaitlin M Phillips, Nicola A Hanania, Muhammad Adrish

Faculty, Staff and Students Publications

Chronic airway inflammation with variable airflow obstruction is clinical asthma, and it arises from distinct molecular and pathological mechanisms called endotypes. Biomarkers allow for precise endotype characterization and have been used in clinical trials to design, monitor, and evaluate outcomes for asthma biologic therapies. This review will highlight the central and evolving role of biomarkers for past, present, and future asthma, with a focus on regulatory-approved biologic therapies and emerging biomarkers. Established biomarkers, including serum immunoglobulin E (IgE), blood eosinophils, the fraction of exhaled nitric oxide (FeNO), and serum periostin, helped elucidate the complex pathophysiology of the eosinophilic type 2 …


Development Of Emerin Mrna Lipid Nanoparticles To Rescue Myogenic Differentiation., Nicholas Marano, Liza Elif Guner, Rachel S Riley, James M Holaska Aug 2025

Development Of Emerin Mrna Lipid Nanoparticles To Rescue Myogenic Differentiation., Nicholas Marano, Liza Elif Guner, Rachel S Riley, James M Holaska

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Emery-Dreifuss muscular dystrophy 1 (EDMD1) arises from mutations in EMD. Most EDMD1 patients lack detectable emerin expression. They experience symptoms such as skeletal muscle wasting, joint contractures, and cardiac conduction defects. Currently, physicians rely on treating patient symptoms without addressing the underlying cause-lack of functional emerin protein. Thus, there is a need for therapeutic approaches that restore emerin protein expression to improve patient outcomes. One way would be to deliver emerin mRNA or protein directly to affected tissues to restore tissue homeostasis. Here, we evaluated the utility of lipid nanoparticles (LNPs) to deliver emerin mRNA to diseased cells. LNPs …


Variability In Long Covid Definitions And Validation Of Published Prevalence Rates, Lauren E. Wisk, Michelle L'Hommedieu, Kate Diaz Roldan, Imtiaz Ebna Mannan, Erica S. Spatz, Robert A. Weinstein, Arjun K. Venkatesh, Michael Gottlieb, Ryan Huebinger, Kristin L. Rising, Juan Carlos C. Montoy, Kari A. Stephens, Robert M. Rodriguez, Mandy J. Hill, Kelli N. O'Laughlin, Nicole L. Gentile, Ahamed H. Idris, Shu-Xia Li, Michelle Santangelo, Efrat R. Kean, Samuel A. Mcdonald, Kristyn Gatling, Joann G Elmore Aug 2025

Variability In Long Covid Definitions And Validation Of Published Prevalence Rates, Lauren E. Wisk, Michelle L'Hommedieu, Kate Diaz Roldan, Imtiaz Ebna Mannan, Erica S. Spatz, Robert A. Weinstein, Arjun K. Venkatesh, Michael Gottlieb, Ryan Huebinger, Kristin L. Rising, Juan Carlos C. Montoy, Kari A. Stephens, Robert M. Rodriguez, Mandy J. Hill, Kelli N. O'Laughlin, Nicole L. Gentile, Ahamed H. Idris, Shu-Xia Li, Michelle Santangelo, Efrat R. Kean, Samuel A. Mcdonald, Kristyn Gatling, Joann G Elmore

Jefferson Center for Connected Care Faculty Papers

IMPORTANCE: Long COVID definitions vary widely, and no consensus exists on how to accurately measure its prevalence, complicating both clinical care and research.

OBJECTIVE: To assess long COVID prevalence using various definitions from published literature.

DESIGN, SETTING, AND PARTICIPANTS: This prospective, multicenter cohort study used data from the longitudinal Innovative Support for Patients With SARS-CoV-2 Infections Registry (INSPIRE). Participants aged 18 years or older with symptoms suggestive of COVID-19 illness at the time of their index SARS-CoV-2 test enrolled at 8 sites across the US from December 11, 2020, through August 29, 2022, with follow-up surveys collected through February 28, …


Shared And Distinct Alterations In Brain Structure Of Youth With Internalizing Or Externalizing Disorders: Findings From The Enigma Antisocial Behavior, Adhd, Mdd, And Anxiety Working Groups, Sophie Townend, Marlene Staginnus, Yidian Gao, Nina Alexander, Volker Arolt, Tobias Banaschewski, Mark A Bellgrove, Vivek Benegal, Robert J Blair, Laura Blanco-Hinojo, Ole Jonas Boeken, Joscha Böhnlein, Sven Bölte, Linda M Bonnekoh, Daniel Brandeis, Rodrigo A Bressan, Fabian Breuer, Willem B Bruin, Jan K Buitelaar, Katie L Burkhouse, Monica E Calkins, Marta Cano, Narcis Cardoner, Hui Chen, Xianliang Chen, David R Coghill, Olivier F Colins, Colm G Connolly, Michael C Craig, Kathryn R Cullen, Udo Dannlowski, Christopher G Davey, Andrea Dietrich, Daifeng Dong, Christine M Freitag, Thomas Frodl, Liesbet Goossens, Dominik Grotegerd, Raquel E Gur, Ruben C Gur, Jan Haavik, Cindy C Hagan, Tim Hahn, Alfons O Hamm, Ben J Harrison, Catharina A Hartman, Martin J Herrmann, Tiffany C Ho, Pieter J Hoekstra, Bharath Holla, Karim Ibrahim, Andrea Jackowski, Hamidreza Jamalabadi, Yali Jiang, Tilo Kircher, Kerstin Konrad, Anna Kraus, Jonna Kuntsi, Till Langhammer, Luisa Lazaro, Elisabeth J Leehr, Ulrike Lueken, Ren Ma, Frank P Macmaster, Gisele G Manfro, Anne Martinelli, Hannah Meinert, Susanne Meinert, Jarosław M Michałowski, Qingsen Ming, Robert Moeck, Lilianne R Mujica-Parodi, Benson Mwangi, Janina Neufeld, Joel T Nigg, Ruth L O'Gorman Tuura, Hyuntaek Oh, Jaap Oosterlaan, Yannis Paloyelis, Pedro M Pan, Luca Passamonti, Wenceslao Peñate, K Luan Phan, Kerstin J Plessen, Jesus Pujol, Karl Lundin Remnélius, Francisco Rivero, Katya Rubia, Ramiro Salas, Giovanni A Salum, Theodore D Satterthwaite, Anne Schienle, Elisabeth Schrammen, Koen R J Schruers, Gunter Schumann, Arjun Sethi, Tim Silk, Norbert Skokauskas, Jordan Smoller, Jair C Soares, Lin Sørensen, Christina Stadler, Michael C Stevens, Benjamin Straube, Thomas Straube, Andreas Ströhle, Gustavo Sudre, Denis G Sukhodolsky, Kate Sully, Xiaoqiang Sun, Chad M Sylvester, Nicola Toschi, Steven J A Van Der Werff, Alasdair Vance, Robert Vermeiren, Albert Wabnegger, Xiaoping Wang, Julia Wendt, Sarah Whittle, Julian Wiemer, Anderson M Winkler, Hans U Wittchen, Mon-Ju Wu, Qiong Wu, Tony T Yang, Yunbo Yang, Shuqiao Yao, Jibiao Zhang, Jiansong Zhou, Andre Zugman, Giovana B Zunta-Soares, Peter M Zwanzger, Sophia I Thomopoulos, Neda Jahanshad, Paul M Thompson, Kevin Hilbert, Arielle Baskin-Sommers, Charlotte A M Cecil, Moji Aghajani, Daniel S Pine, Nic J A Van Der Wee, Dan J Stein, Nynke A Groenewold, Janna Marie Bas-Hoogendam, Laura K M Han, Elena Pozzi, Lianne Schmaal, Barbara Franke, Martine Hoogman, Esther Walton, Stephane A De Brito, Graeme Fairchild, Enigma Antisocial Behavior, Anxiety, Adhd, And Mdd Working Groups Aug 2025

Shared And Distinct Alterations In Brain Structure Of Youth With Internalizing Or Externalizing Disorders: Findings From The Enigma Antisocial Behavior, Adhd, Mdd, And Anxiety Working Groups, Sophie Townend, Marlene Staginnus, Yidian Gao, Nina Alexander, Volker Arolt, Tobias Banaschewski, Mark A Bellgrove, Vivek Benegal, Robert J Blair, Laura Blanco-Hinojo, Ole Jonas Boeken, Joscha Böhnlein, Sven Bölte, Linda M Bonnekoh, Daniel Brandeis, Rodrigo A Bressan, Fabian Breuer, Willem B Bruin, Jan K Buitelaar, Katie L Burkhouse, Monica E Calkins, Marta Cano, Narcis Cardoner, Hui Chen, Xianliang Chen, David R Coghill, Olivier F Colins, Colm G Connolly, Michael C Craig, Kathryn R Cullen, Udo Dannlowski, Christopher G Davey, Andrea Dietrich, Daifeng Dong, Christine M Freitag, Thomas Frodl, Liesbet Goossens, Dominik Grotegerd, Raquel E Gur, Ruben C Gur, Jan Haavik, Cindy C Hagan, Tim Hahn, Alfons O Hamm, Ben J Harrison, Catharina A Hartman, Martin J Herrmann, Tiffany C Ho, Pieter J Hoekstra, Bharath Holla, Karim Ibrahim, Andrea Jackowski, Hamidreza Jamalabadi, Yali Jiang, Tilo Kircher, Kerstin Konrad, Anna Kraus, Jonna Kuntsi, Till Langhammer, Luisa Lazaro, Elisabeth J Leehr, Ulrike Lueken, Ren Ma, Frank P Macmaster, Gisele G Manfro, Anne Martinelli, Hannah Meinert, Susanne Meinert, Jarosław M Michałowski, Qingsen Ming, Robert Moeck, Lilianne R Mujica-Parodi, Benson Mwangi, Janina Neufeld, Joel T Nigg, Ruth L O'Gorman Tuura, Hyuntaek Oh, Jaap Oosterlaan, Yannis Paloyelis, Pedro M Pan, Luca Passamonti, Wenceslao Peñate, K Luan Phan, Kerstin J Plessen, Jesus Pujol, Karl Lundin Remnélius, Francisco Rivero, Katya Rubia, Ramiro Salas, Giovanni A Salum, Theodore D Satterthwaite, Anne Schienle, Elisabeth Schrammen, Koen R J Schruers, Gunter Schumann, Arjun Sethi, Tim Silk, Norbert Skokauskas, Jordan Smoller, Jair C Soares, Lin Sørensen, Christina Stadler, Michael C Stevens, Benjamin Straube, Thomas Straube, Andreas Ströhle, Gustavo Sudre, Denis G Sukhodolsky, Kate Sully, Xiaoqiang Sun, Chad M Sylvester, Nicola Toschi, Steven J A Van Der Werff, Alasdair Vance, Robert Vermeiren, Albert Wabnegger, Xiaoping Wang, Julia Wendt, Sarah Whittle, Julian Wiemer, Anderson M Winkler, Hans U Wittchen, Mon-Ju Wu, Qiong Wu, Tony T Yang, Yunbo Yang, Shuqiao Yao, Jibiao Zhang, Jiansong Zhou, Andre Zugman, Giovana B Zunta-Soares, Peter M Zwanzger, Sophia I Thomopoulos, Neda Jahanshad, Paul M Thompson, Kevin Hilbert, Arielle Baskin-Sommers, Charlotte A M Cecil, Moji Aghajani, Daniel S Pine, Nic J A Van Der Wee, Dan J Stein, Nynke A Groenewold, Janna Marie Bas-Hoogendam, Laura K M Han, Elena Pozzi, Lianne Schmaal, Barbara Franke, Martine Hoogman, Esther Walton, Stephane A De Brito, Graeme Fairchild, Enigma Antisocial Behavior, Anxiety, Adhd, And Mdd Working Groups

Staff and Researcher Publications

BACKGROUND: Externalizing and internalizing disorders are common in youth but are often studied separately, preventing researchers from identifying shared (i.e., transdiagnostic) alterations in brain structure. Using data from the ENIGMA Consortium, we conducted a mega-analysis to identify shared and distinct cortical and subcortical brain alterations across internalizing (anxiety disorders and depression) and externalizing disorders (attention-deficit/hyperactivity disorder [ADHD] and conduct disorder [CD]) in youth.

METHODS: 3D T1-weighted MRI data from youth (aged 4-21 years) with anxiety disorders (n=1,044), depression (n=504), ADHD (n=1,317), and CD (n=1,172), along with healthy controls (n=4,743) were analyzed. We assessed group differences in regional cortical thickness, surface …


Association Between Weather Variables And Fascial Space Infections Of The Head And Neck: A Retrospective Chart Review, Teresa E. Fowler, Ryan F. Bloomquist, Jeffrey N. James Aug 2025

Association Between Weather Variables And Fascial Space Infections Of The Head And Neck: A Retrospective Chart Review, Teresa E. Fowler, Ryan F. Bloomquist, Jeffrey N. James

School of Dentistry Faculty Publications

BACKGROUND: The incidence of fascial space infections of the head and neck has long been suggested to correlate with weather patterns, though objective evidence is inconsistent, and a causative effect is difficult to prove. One issue in the existing literature is that correlations between space infections and weather patterns have been assessed in only a few climates, so data from additional regions is needed. The purpose of this study is to understand whether head and neck infection rates correlate with weather patterns in a humid subtropical climate, adding to the current literature derived largely from temperate environments. METHODS: In this …


The Swib Domain-Containing Dna Topoisomerase I Of Chlamydia Trachomatis Mediates Dna Relaxation, Li Shen, Abigail R. Swoboda, Caitlynn Diggs, Shomita Ferdous, Andrew Terrebonne, Amanda Santos, Noel Wolf, Luis Lorenzo Carvajal, Guangming Zhong, Scot P. Ouellette, Yuk Ching Tse-Dinh Aug 2025

The Swib Domain-Containing Dna Topoisomerase I Of Chlamydia Trachomatis Mediates Dna Relaxation, Li Shen, Abigail R. Swoboda, Caitlynn Diggs, Shomita Ferdous, Andrew Terrebonne, Amanda Santos, Noel Wolf, Luis Lorenzo Carvajal, Guangming Zhong, Scot P. Ouellette, Yuk Ching Tse-Dinh

School of Graduate Studies Faculty Publications

Chlamydia trachomatis has a DNA topoisomerase I with a unique C-terminal domain (CTD) homologous to eukaryotic SWIB domains. This study focused on determining the function of the SWIB domain-containing TopA from C. trachomatis (CtTopA). We demonstrated that, despite the lack of sequence similarity at the CTDs between CtTopA and TopA from Escherichia coli (EcTopA), full-length CtTopA removed negative DNA supercoils in vitro and complemented the growth defect of a topA mutant of E. coli. CtTopA is less processive in DNA relaxation than EcTopA in dose-response and time course studies. An antibody generated against the SWIB domain of CtTopA specifically recognized …


[[68ga] Labelled Exendin For Radioguided Surgery Of Intrapancreatic Insulin Producing Lesions In Patients With Congenital Hyperinsulinism, Peter Kühnen, Vikas Prasad, Et Al. Aug 2025

[[68ga] Labelled Exendin For Radioguided Surgery Of Intrapancreatic Insulin Producing Lesions In Patients With Congenital Hyperinsulinism, Peter Kühnen, Vikas Prasad, Et Al.

2020-Current year OA Pubs

BACKGROUND: Congenital hyperinsulinism (CHI) is a life threatening disease. Localization of affected intrapancreatic beta cells responsible for focal forms during surgery can be challenging. In this study we investigated a new radioguided surgical (RGS) approach using [68Ga]Exendin to facilitate intraoperative focus detection. All patients were scanned initially with [18F]-DOPA-PET followed by [68Ga]Exendin PET to differentiate between focal and non-focal forms. Focal CHI patients were then operated. At the beginning of standard surgical dissection of the pancreas in CHI patients (n = 12), 46 MBq of [68Ga]Exendin were injected intravenously. Intrapancreatic localization of the foci was determined by using a hand-held …


Structural Basis For Membrane Microdomain Formation By A Human Stomatin Complex, Jack Stoner, Shufang Li, Ziao Fu Aug 2025

Structural Basis For Membrane Microdomain Formation By A Human Stomatin Complex, Jack Stoner, Shufang Li, Ziao Fu

2020-Current year OA Pubs

Biological membranes are not just passive barriers-they actively sense and respond to mechanical forces, in part through specialized proteins embedded within them. Among these are Stomatin-family proteins, which are known to influence membrane stiffness and regulate ion channels, yet how they achieve these functions at the molecular level has remained elusive. Here, we report the 2.2 Å cryo-electron microscopy structure of the human Stomatin complex in a native membrane environment. We find that Stomatin assembles into a 16-subunit ring-shaped homo-oligomer, forming a ~12 nm-wide cage that defines a mechanically distinct, curvature-resistant membrane microdomain. While the majority of the complex exhibits …


Bclaf1 Restrains Stress Responses In Hematopoietic Stem Cells To Support Expansion And Repopulation, Stephanie J Crowley, Wei Yang, Lynn S White, Jun Wu, Yanan Li, Haley Schmidt, Kyunghee Choi, Jeffrey A Magee, Jeffrey J Bednarski Aug 2025

Bclaf1 Restrains Stress Responses In Hematopoietic Stem Cells To Support Expansion And Repopulation, Stephanie J Crowley, Wei Yang, Lynn S White, Jun Wu, Yanan Li, Haley Schmidt, Kyunghee Choi, Jeffrey A Magee, Jeffrey J Bednarski

2020-Current year OA Pubs

Hematopoietic stem cells (HSCs) rapidly expand during fetal development and after stress. Here, we identify B-cell lymphoma-2-associated factor 1 (BCLAF1) as a regulator of HSC repopulation activity, with roles in the expansion of fetal HSCs and hematopoietic reconstitution after stem cell transplantation. Using mice with hematopoietic-specific and inducible deletion of Bclaf1, we find that BCLAF1 promotes fetal HSC development but is dispensable for the maintenance of adult HSCs at steady state. Loss of BCLAF1 in either fetal or adult HSCs significantly impairs their self-renewal and multilineage reconstitution activity after stem cell transplantation. Single-cell RNA sequencing of fetal hematopoietic progenitors reveals …


Pride-Ftg Advances Academic Careers Of Underrepresented Early-Stage Investigators Performing Blood Disorders Research, Betty S Pace, Oluwatoyosi A Onwuemene, Athena Starlard-Davenport, Rhea-Beth Markowitz, Vahé Heboyan, Petar Datsov, Treva Rice Aug 2025

Pride-Ftg Advances Academic Careers Of Underrepresented Early-Stage Investigators Performing Blood Disorders Research, Betty S Pace, Oluwatoyosi A Onwuemene, Athena Starlard-Davenport, Rhea-Beth Markowitz, Vahé Heboyan, Petar Datsov, Treva Rice

2020-Current year OA Pubs

Despite improvements in the diversity of the US biomedical research workforce, individuals from different racial/ethnic groups remain underrepresented. Even though mentoring is critical for career advancement, underrepresented faculty have limited opportunities. Therefore, we evaluated a multipronged mentoring approach for early-stage underrepresented faculty trained in the Programs to Increase Diversity Among Individuals Engaged in Health-Related Research-Functional and Translational Genomics of Blood Disorders (PRIDE-FTG). The selection process involved a rigorous review of applications, considering factors such as academic potential, research interests, and commitment to diversity in biomedical research. This yearlong training experience includes 2 summer institutes consisting of lectures, grant-writing workshops, and …


Cognitive Impairment In Adult Attention Deficit Hyperactivity Disorder: Clinical Implications And Novel Treatment Strategies, Alexis J. Vega, Gabriel V. Hernandez, Ahmed I. Anwar, Bahareh Sharafi, Rahib K. Islam, Sahar Shekoohi, Alan D. Kaye Aug 2025

Cognitive Impairment In Adult Attention Deficit Hyperactivity Disorder: Clinical Implications And Novel Treatment Strategies, Alexis J. Vega, Gabriel V. Hernandez, Ahmed I. Anwar, Bahareh Sharafi, Rahib K. Islam, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Attention Deficit Hyperactivity Disorder (ADHD) is a lifelong condition; however, traditional treatment focuses on hyperactivity and inattention, which is largely a manifestation of pediatric ADHD. Studies are limited regarding cognitive difficulties, as seen in adult ADHD, as well as treatment strategies for this population. This review of the literature examines multiple recent studies that discuss various novel treatment strategies for cognitive impairment in adults with ADHD. A targeted literature review was conducted using PubMed to identify recent studies on cognitive dysfunction in adults with ADHD, with an emphasis on emerging treatment strategies. Data collected included sample size, intervention strategies, cognitive …


Eltrombopag In Combination With Immunosuppressive Therapy In Pediatric Severe Aplastic Anemia: Phase 2 Escalate Trial, Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Sujith Samarasinghe, Jason E Farrar, Chi-Kong Li, Nongnuch Sirachainan, Bunchoo Pongtanakul, Patcharee Komvilaisak, Ludmila Zubarovskaya, Jennifer A Rothman, Kelly Walkovich, Taizo A Nakano, Alison A Bertuch, Anabela Ferrao, Rukhmi Bhat, Rabi Hanna, Kathleen Overholt, Jessica Boklan, Tze Fang Wong, Qinxia Wang, Patrick Urban, Brigitte Strahm, Winfred Wang, Adrianna Vlachos, David A Williams Aug 2025

Eltrombopag In Combination With Immunosuppressive Therapy In Pediatric Severe Aplastic Anemia: Phase 2 Escalate Trial, Akiko Shimamura, Alexey Maschan, Carolyn Bennett, Sujith Samarasinghe, Jason E Farrar, Chi-Kong Li, Nongnuch Sirachainan, Bunchoo Pongtanakul, Patcharee Komvilaisak, Ludmila Zubarovskaya, Jennifer A Rothman, Kelly Walkovich, Taizo A Nakano, Alison A Bertuch, Anabela Ferrao, Rukhmi Bhat, Rabi Hanna, Kathleen Overholt, Jessica Boklan, Tze Fang Wong, Qinxia Wang, Patrick Urban, Brigitte Strahm, Winfred Wang, Adrianna Vlachos, David A Williams

Faculty, Staff and Students Publications

Severe aplastic anemia (SAA) is a rare, life-threatening disease with acquired pancytopenia and hypocellular bone marrow. ESCALATE evaluated eltrombopag in combination with immunosuppressive therapy (IST) in pediatric patients (aged 1 to < 18 years) with relapsed/refractory (R/R) or treatment-naïve SAA. The eltrombopag starting dose was 25 mg/d for patients aged 1 to < 6 years and 50 mg/d for patients aged 6 to < 18 years; dose modifications (maximum dose, 150 mg/d) were allowed to achieve a target platelet count of 50 × 109/L to 200 × 109/L. Eltrombopag was administered with cyclosporine A, with or without horse antithymocyte globulin, for 26 weeks and could be extended if clinically beneficial. Fifty-one patients were treated (R/R SAA, n = 14; treatment-naïve SAA, n = 37). Data were analyzed overall and as 2 cohorts: R/R and treatment-naïve cohorts. The overall response rate (ORR; per North American Pediatric Aplastic Anemia Consortium criteria) at 26 weeks was 54.9% in both cohorts combined and 71.4% and 48.6% in the R/R and treatment-naïve cohorts, respectively; most responders had sustained responses after discontinuing eltrombopag. Among baseline transfusion-dependent patients, 66.7% and 76.7% achieved red blood cell and platelet transfusion independence, respectively, with rates of 70% and 80% for the R/R cohort and 65.6% and 75.8% for the treatment-naïve cohort, respectively. The most common treatment-related adverse events were abnormalities in liver function tests, including increased bilirubin (43.1%), alanine aminotransferase (37.3%), and aspartate aminotransferase (33.3%). Eltrombopag with IST showed a trend toward a favorable ORR in the R/R cohort, with no new safety signals.


Beyond Their Nutritional Value, School Meal Programs Support Agricultural And Food Transition Toward Sustainability By Creating Multi-Sectoral Values In France, Sylvie Avallone, Sophie Nicklaus, Céline Giner, Juliana Cohen, Stéphane Verguet Aug 2025

Beyond Their Nutritional Value, School Meal Programs Support Agricultural And Food Transition Toward Sustainability By Creating Multi-Sectoral Values In France, Sylvie Avallone, Sophie Nicklaus, Céline Giner, Juliana Cohen, Stéphane Verguet

Health Sciences Faculty Publications

The COVID pandemic has highlighted the essential role of school meal programs, not only for education but also for children’s nutrition. In France, school meals are shaped by ambitious policies to ensure their safety and nutritional quality, while promoting sustainable eating practices and awareness of environmental and agricultural challenges. In this article, we used the case study of France to discuss the multi-sectoral value of these programs. The economic value of school meals in France amounts to €8.2 billion annually, of which 2.8 billion are dedicated to food purchases. Since 2022, the EGAlim and Climate and Resilience laws require canteens …


Pd-1 Inhibition For Relapse After Allogeneic Transplantation In Acute Myeloid Leukemia And Myelodysplastic Syndrome, John M Magenau, David G Frame, Mary Riwes, John Maciejewski, Sarah Anand, Attaphol Pawarode, Anamarija M Perry, Marcus Geer, Thomas Braun, Monalisa Ghosh, Pavan Reddy Aug 2025

Pd-1 Inhibition For Relapse After Allogeneic Transplantation In Acute Myeloid Leukemia And Myelodysplastic Syndrome, John M Magenau, David G Frame, Mary Riwes, John Maciejewski, Sarah Anand, Attaphol Pawarode, Anamarija M Perry, Marcus Geer, Thomas Braun, Monalisa Ghosh, Pavan Reddy

Faculty, Staff and Students Publications

Relapse of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) remains the primary source of mortality after allogeneic hematopoietic stem cell transplantation (HCT). Targeting programmed death-1 (PD-1) for reversing T-cell exhaustion and restoring the graft-versus-leukemia (GVL) effect may have logistical advantages over donor lymphocyte infusion. In a prospective phase 1B clinical trial, pembrolizumab was administered every 3 weeks to 16 patients with AML (n = 12) and MDS (n = 4) in relapse after HCT to assess graft-versus-host disease (GVHD), clinical response, and survival. The median time to relapse after HCT was 5.5 months and the median pretreatment bone marrow …


Brentuximab Vedotin And Nivolumab For Untreated Patients With Hodgkin Lymphoma: Long-Term Results, Bruce D Cheson, Nancy L Bartlett, Betsy Knopf, Hun J Lee, Ranjana H Advani, Beth Christian, Catherine S Diefenbach, Tatyana A Feldman, Stephen M Ansell Aug 2025

Brentuximab Vedotin And Nivolumab For Untreated Patients With Hodgkin Lymphoma: Long-Term Results, Bruce D Cheson, Nancy L Bartlett, Betsy Knopf, Hun J Lee, Ranjana H Advani, Beth Christian, Catherine S Diefenbach, Tatyana A Feldman, Stephen M Ansell

2020-Current year OA Pubs

No abstract provided.


Tracing Sars-Cov-2 Clusters Across Local Scales Using Genomic Data, Leke Lyu, Mandev Gill, Guppy Stott, Sachin Subedi, Cody Dailey, Gabriella Veytsel, Magdy Alabady, Kayo Fujimoto, Ryker Penn, Pamela Brown, Roger Sealy, Justin Bahl Aug 2025

Tracing Sars-Cov-2 Clusters Across Local Scales Using Genomic Data, Leke Lyu, Mandev Gill, Guppy Stott, Sachin Subedi, Cody Dailey, Gabriella Veytsel, Magdy Alabady, Kayo Fujimoto, Ryker Penn, Pamela Brown, Roger Sealy, Justin Bahl

Faculty, Staff and Student Publications

A quantitative understanding of local transmission dynamics is essential for designing effective prevention strategies. In this study, we developed a computational workflow to identify viral introductions and trace locally circulating clusters. We analyzed over 26,000 SARS-CoV-2 genomes and their associated metadata, collected between January and October 2021, to explore introduction and local dispersal patterns in Greater Houston, a major metropolitan area known for its demographic diversity. Our analysis identified more than 1,000 independent introduction events, resulting in clusters of varying sizes. The majority of introductions originated from domestic sources, while international introductions occurred earlier and were associated with larger cluster …


Molecular Inflammatory Expression Profiles Associated With The Frequency Of Pain In Individuals With Sickle Cell Disease, Lana Mucalo Katunaric, Shuang Jia, Ashima Singh, Mark F. Roethle, Julie A. Panepinto, David C. Brousseau, Martin J. Hessner, Amanda M. Brandow Aug 2025

Molecular Inflammatory Expression Profiles Associated With The Frequency Of Pain In Individuals With Sickle Cell Disease, Lana Mucalo Katunaric, Shuang Jia, Ashima Singh, Mark F. Roethle, Julie A. Panepinto, David C. Brousseau, Martin J. Hessner, Amanda M. Brandow

Department of Pediatrics Faculty Papers

Pain is the most common complication of sickle cell disease (SCD). The underlying biology of SCD pain is not well understood, which is a barrier to novel, effective analgesic and preventive therapies. A wide variability in the phenotypic expression of pain exists among individuals with SCD, despite the inheritance of a similar defective hemoglobin gene. This interindividual pain variability further complicates the ability to understand the biology and effectively treat pain. We sought to discover a biological signature comprising differentially expressed genes unique to SCD that could differentiate between individuals with varied pain frequency. We conducted plasma-induced transcription analysis from …


Non-Isolated Tetralogy Of Fallot (Tof+): Exome Sequencing Efficacy And Phenotypic Expansions, Julia Volpi, Xiaonan Zhao, Nichole Owen, Tia Evans, Muriel Holder-Espinasse, Nayana Lahiri, Eleanor Sherlock, Gemma Poke, Jeroen Breckpot, Koen Devriendt, Bjorn Cools, Alfredo Brusco, Giovanni Battista Ferrero, Enrico Grosso, Pradeep Vasudevan, Sara Loddo, Antonio Novelli, Maria Cristina Digilio, Aafke Engwerda, Marrit Hitzert, Alison Male, Lucy Bownass, Ruth Newbury-Ecob, Zosia Miedzybrodzka, Ruth Armstrong, Sally Ann Lynch, Gunnar Houge, Shiyi Xiong, Seema R Lalani, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Daryl A Scott Aug 2025

Non-Isolated Tetralogy Of Fallot (Tof+): Exome Sequencing Efficacy And Phenotypic Expansions, Julia Volpi, Xiaonan Zhao, Nichole Owen, Tia Evans, Muriel Holder-Espinasse, Nayana Lahiri, Eleanor Sherlock, Gemma Poke, Jeroen Breckpot, Koen Devriendt, Bjorn Cools, Alfredo Brusco, Giovanni Battista Ferrero, Enrico Grosso, Pradeep Vasudevan, Sara Loddo, Antonio Novelli, Maria Cristina Digilio, Aafke Engwerda, Marrit Hitzert, Alison Male, Lucy Bownass, Ruth Newbury-Ecob, Zosia Miedzybrodzka, Ruth Armstrong, Sally Ann Lynch, Gunnar Houge, Shiyi Xiong, Seema R Lalani, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Daryl A Scott

Faculty, Staff and Students Publications

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD). TOF may present in isolation or in conjunction with one or more non-cardiac congenital anomalies or neurodevelopmental disorders (TOF+). Uncertainty regarding the efficacy of various genetic testing strategies, and an incomplete understanding of the genetic causes of TOF+, may lead to hesitancy in recommending genetic testing, particularly, clinical exome sequencing (cES). Here, we analyzed cES data from 131 individuals with TOF+. A definitive or probable diagnosis was made for 31 individuals, yielding a diagnostic rate of 23.6% (31/131). One individual received three diagnoses. Commercially available CHD panels …


Assessing The Muc5b Promoter Variant In A Large Cohort Of Systemic Sclerosis-Associated Interstitial Lung Disease, Carlos Rosa-Baez, Carlos Rangel-Pelaez, Inmaculada Rodriguez-Martin, Martin Kerick, Alfredo Guillen-Del-Castillo, Carmen P Simeon-Aznar, José Luis Callejas, Alexandre E Voskuyl, Alexander Kreuter, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Nicolas Hunzelmann, Jeska K De Vries-Bouwstra, Ariane L Herrick, Yannick Allanore, Lorenzo Beretta, Maureen D Mayes, Christopher P Denton, Shervin Assassi, Javier Martin, Marialbert Acosta-Herrera Aug 2025

Assessing The Muc5b Promoter Variant In A Large Cohort Of Systemic Sclerosis-Associated Interstitial Lung Disease, Carlos Rosa-Baez, Carlos Rangel-Pelaez, Inmaculada Rodriguez-Martin, Martin Kerick, Alfredo Guillen-Del-Castillo, Carmen P Simeon-Aznar, José Luis Callejas, Alexandre E Voskuyl, Alexander Kreuter, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Nicolas Hunzelmann, Jeska K De Vries-Bouwstra, Ariane L Herrick, Yannick Allanore, Lorenzo Beretta, Maureen D Mayes, Christopher P Denton, Shervin Assassi, Javier Martin, Marialbert Acosta-Herrera

Faculty, Staff and Student Publications

Objective: The common gain-of-function variant rs35705950, located in the promoter of MUC5B gene, has been strongly associated with interstitial lung diseases (ILDs) of different aetiology, such as idiopathic pulmonary fibrosis (IPF) and rheumatoid arthritis-associated ILD (RA-ILD). In this study, we aimed to investigate the association of this variant and its nearby single nucleotide polymorphisms (SNPs) in the largest cohort of systemic sclerosis-associated ILD (SSc-ILD) to date.

Methods: Samples were collected from blood/saliva, followed by DNA extraction and genotyping using SNP arrays. Data for rs35705950 and additional 903 variants within 100 Kb were obtained using genomic imputation. Subsequently, we tested their …