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Apathy, Effort-Based Decisions And Brain Integrity In Alzheimer’S And Parkinson’S Diseases, Lee-Anne Morris, Hideo Suzuki, Seonjoo Lee, Zekai Jin, Bryan B Chen, Ana Marin, Edward D Huey, Yunglin Gazes, Sarah R Heilbronner, Campbell J Le Heron, Nora Vanegas-Arroyave May 2026

Apathy, Effort-Based Decisions And Brain Integrity In Alzheimer’S And Parkinson’S Diseases, Lee-Anne Morris, Hideo Suzuki, Seonjoo Lee, Zekai Jin, Bryan B Chen, Ana Marin, Edward D Huey, Yunglin Gazes, Sarah R Heilbronner, Campbell J Le Heron, Nora Vanegas-Arroyave

Faculty, Staff and Students Publications

Apathy, or loss of motivation, is a prominent syndrome accompanying both Alzheimer's and Parkinson's diseases, in addition to other disorders. One approach to understanding motivational loss is to examine the processes underlying goal-directed behaviour. Weighing up rewarding outcomes against the effort costs required to obtain them (effort-based decision-making) is a core computation when deciding to act for outcomes. Although a growing body of evidence points to disruption of this computation in people with apathy, which underlying decision parameters drive this disruption, their neural associations and whether these would generalize or differ across brain disorders have not been examined. People with …


Timing Isn't Everything: Rethinking Mortality Risk In Type A Aortic Dissection Surgery, Anna H Xue, Joseph S Coselli May 2026

Timing Isn't Everything: Rethinking Mortality Risk In Type A Aortic Dissection Surgery, Anna H Xue, Joseph S Coselli

Faculty, Staff and Students Publications

No abstract provided.


Purine Metabolic Adaptation Protects The Endothelium From Disturbed Flow-Induced Dna Damage And Atherosclerosis, Qian Ma, Yongfeng Cai, Zhidan Zhang, Dingwei Zhao, Yuan Zhao, Peishan Xu, Tammy Lu, Wendy Zhang, Qiuhua Yang, Yaqi Zhou, Varadarajan Sudhahar, Tohru Fukai, Hanjoong Jo, Yiming Xu, Yuqing Huo May 2026

Purine Metabolic Adaptation Protects The Endothelium From Disturbed Flow-Induced Dna Damage And Atherosclerosis, Qian Ma, Yongfeng Cai, Zhidan Zhang, Dingwei Zhao, Yuan Zhao, Peishan Xu, Tammy Lu, Wendy Zhang, Qiuhua Yang, Yaqi Zhou, Varadarajan Sudhahar, Tohru Fukai, Hanjoong Jo, Yiming Xu, Yuqing Huo

Faculty, Staff and Students Publications

Despite effective lipid-lowering therapies, atherosclerosis continues to be a leading cause of death, with considerable residual cardiovascular risk. Atherosclerotic lesions develop preferentially at arterial regions exposed to disturbed flow (d-flow), which induces genomic stress, endothelial injury, and barrier dysfunction. Hemodynamic forces are known to reprogram endothelial metabolism, but the role of de novo purine synthesis (DNPS), which supplies nucleotides for genome maintenance and whose terminal steps are catalyzed by the bifunctional enzyme ATIC, remains undefined in atherosclerosis. By integrating bulk and single-cell multiomics with in vitro flow systems and in vivo models, we show that d-flow upregulates DNPS and ATIC …


Investigating Causal Associations Among Inflammatory Proteins, Blood Metabolites, And Alzheimer’S Disease Risk, Shuai Liu, Jingjing Zhu, Hua Zhong, Dan Zhou, Quan Long, Zichen Zhang, Xiaochen Yang, Qing Wu, Chao Cheng, Jianyong Wu, Hung N Luu, Jing Wang, Bingxin Zhao, Chong Wu, Youping Deng, Lang Wu May 2026

Investigating Causal Associations Among Inflammatory Proteins, Blood Metabolites, And Alzheimer’S Disease Risk, Shuai Liu, Jingjing Zhu, Hua Zhong, Dan Zhou, Quan Long, Zichen Zhang, Xiaochen Yang, Qing Wu, Chao Cheng, Jianyong Wu, Hung N Luu, Jing Wang, Bingxin Zhao, Chong Wu, Youping Deng, Lang Wu

Faculty, Staff and Students Publications

Alzheimer's disease (AD) is a prevalent degenerative neurological disorder with limited treatment options. Prior studies reported specific metabolites and inflammatory proteins to be related to AD risk. However, the intricate relationship between inflammatory proteins, blood metabolites, and AD risk in European population remains unclear. Genetic instruments for 1,091 metabolites and 736 inflammatory proteins were derived from two recent comprehensive genome-wide association studies. Univariable Mendelian Randomization was employed to assess potential causal effects of metabolites on AD risk, potential effects of inflammatory proteins on metabolites, and effects of inflammatory proteins on AD risk. Multivariable MR (MVMR) was further applied to disentangle …


Syrah: A Pipeline To Maximize Spatial Transcriptomics Data Output, Carolyn Brewster, Frederick G Mann, Blair Benham-Pyle, Alejandro Sánchez Alvarado May 2026

Syrah: A Pipeline To Maximize Spatial Transcriptomics Data Output, Carolyn Brewster, Frederick G Mann, Blair Benham-Pyle, Alejandro Sánchez Alvarado

Faculty, Staff and Students Publications

Spatial analysis of gene expression patterns has been a key technique for revealing the potential functions of genes. Traditionally, these analyses conducted using in-situ hybridizations and other labor-intensive protocols were constrained to examining only a few candidate genes per sample. However, the advent of spatial transcriptomic techniques like Slide-seqV2 has transformed this field, enabling massively parallel exploration of gene expression patterns within their tissue contexts by pairing spatial locations with RNA sequencing. Despite its potential, Slide-seqV2 datasets often produce fewer usable reads than expected. We have identified that a significant source of errors in the technology stems from the chemical …


Mogad Is The Most Common Cause Of Isolated Optic Neuritis In Children, Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M Yarimi, Nikita Shukla, Timothy E Lotze, Kristen S Fisher, Alexander J Sandweiss May 2026

Mogad Is The Most Common Cause Of Isolated Optic Neuritis In Children, Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M Yarimi, Nikita Shukla, Timothy E Lotze, Kristen S Fisher, Alexander J Sandweiss

Faculty, Staff and Students Publications

Objectives: The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first-time pediatric ON in the post-MOG-IgG era.

Methods: This was a single-center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first-time ON between 2018-2024, with follow-up data collected through 2025. Inclusion criteria required monocular or binocular subacute vision loss with supportive paraclinical signs. Subjects were excluded if they had a prior history of demyelinating disease or extra-orbital demyelinating lesions on initial brain/spine MRI. Primary outcomes were the proportion of MOG-IgG seropositivity, retinal nerve fiber layer thickness, and visual acuity at onset and most …


Nuclear Export As A Therapeutic Vulnerability In Zfta-Rela Ependymoma, Siri M Ippagunta, Amir Arabzade, Srinidhi Varadharajan, Erik Emanus, Amanda Bland, Alisha Kardian, Nicholas Laboe, Hua Sun, Tuyu Zheng, Amelia Hancock, Mark Zhai, Emma Caesar, Maxwell Park, Wilda Orisme, Melissa Johnson, Brittany Rodgers, Gregory H Turner, Jeffrey Steinberg, Burgess Freeman, Martine F Roussel, Anang Shelat, Richard Kriwacki, Thomas E Merchant, Benjamin Deneen, Michael D Taylor, Sameer Agnihotri, Shondra Pruett-Miller, Jacob A Steele, Anoop Murthy Kavirayani, David W Ellison, Arzu Onar-Thomas, Giles Robinson, Stephen C Mack, Kelsey C Bertrand May 2026

Nuclear Export As A Therapeutic Vulnerability In Zfta-Rela Ependymoma, Siri M Ippagunta, Amir Arabzade, Srinidhi Varadharajan, Erik Emanus, Amanda Bland, Alisha Kardian, Nicholas Laboe, Hua Sun, Tuyu Zheng, Amelia Hancock, Mark Zhai, Emma Caesar, Maxwell Park, Wilda Orisme, Melissa Johnson, Brittany Rodgers, Gregory H Turner, Jeffrey Steinberg, Burgess Freeman, Martine F Roussel, Anang Shelat, Richard Kriwacki, Thomas E Merchant, Benjamin Deneen, Michael D Taylor, Sameer Agnihotri, Shondra Pruett-Miller, Jacob A Steele, Anoop Murthy Kavirayani, David W Ellison, Arzu Onar-Thomas, Giles Robinson, Stephen C Mack, Kelsey C Bertrand

Faculty, Staff and Students Publications

Background: Ependymoma (EPN) is the third most common pediatric brain tumor with no targeted therapies available to patients. In supratentorial ependymoma, the most frequent driver alteration is a gene fusion between ZFTA and RELA (denoted ZR), leads to constitutive localization of ZR in the nucleus. Because ZR is not currently druggable, we tested whether ZR expression leads to aberrant protein interactions that could represent therapeutic vulnerabilities.

Methods: Using CRISPR-Cas9 pooled screening, we identified many novel druggable ZR interacting proteins including XPO1, CARM1, SMARCA4, and CDK1. We focused on the nuclear export protein (XPO1), given the ability of most XPO1 inhibitors …


Tractor Workflow: A Scalable Nextflow Framework For Local Ancestry-Aware Genome-Wide Association Studies, Nirav N Shah, Taotao Tan, Jessica Honorato-Mauer, Yi-Sian Lin, Adam X Maihofer, Clement C Zai, Pgc-Ptsd Ancestry Working Group, Marcos Santoro, Caroline M Nievergelt, Elizabeth G Atkinson May 2026

Tractor Workflow: A Scalable Nextflow Framework For Local Ancestry-Aware Genome-Wide Association Studies, Nirav N Shah, Taotao Tan, Jessica Honorato-Mauer, Yi-Sian Lin, Adam X Maihofer, Clement C Zai, Pgc-Ptsd Ancestry Working Group, Marcos Santoro, Caroline M Nievergelt, Elizabeth G Atkinson

Faculty, Staff and Students Publications

Motivation: The routine exclusion of admixed individuals from traditional genome-wide association studies (GWAS) due to concerns about spurious associations has limited multi-ancestry genetic discovery. Tractor addresses this issue by incorporating local ancestry into association testing, enabling the identification of ancestry-enriched signals and generating ancestry-specific summary statistics. However, adoption has been constrained by the complexity of prerequisite steps, including phasing and local ancestry inference, which require substantial bioinformatics expertise and introduce key analytical decision points.

Results: We developed a scalable, automated Nextflow workflow that integrates phasing, local ancestry inference, and Tractor association testing into a reproducible end-to-end pipeline. To demonstrate its …


Experiences Of Discrimination, Paternal Support, And Hypertensive Disorders Of Pregnancy (Hdp) In The Miehr Study, Houston, Texas, Tahereh Alinia, Elaine Symanski, Juan Manuel Alvarez, Kristina Walker Whitworth May 2026

Experiences Of Discrimination, Paternal Support, And Hypertensive Disorders Of Pregnancy (Hdp) In The Miehr Study, Houston, Texas, Tahereh Alinia, Elaine Symanski, Juan Manuel Alvarez, Kristina Walker Whitworth

Faculty, Staff and Students Publications

Background: Discrimination is a psychosocial stressor that, through activation of stress-response pathways, may influence risk of adverse perinatal health outcomes. However, few studies have evaluated the association between discrimination and hypertensive disorders of pregnancy (HDP), and none have explored effect modification by race or paternal support, which may buffer the adverse effects of discrimination.

Methods: We included 1,847 non-Hispanic Black and White participants from the Maternal and Infant Environmental Health Riskscape (MIEHR) study. Krieger's validated Experiences of Discrimination (EOD) scale was used to assess occurrence (yes/no) and frequency (once, 2-3, ≥ 4 times) of discrimination in nine situations. We created …


Noncanonical Clock Regulators Control Stress Responses In Digestive Diseases, Dishu Zhou, Roberto E López-Valiente, Samer G Mattar, Dongyin Guan May 2026

Noncanonical Clock Regulators Control Stress Responses In Digestive Diseases, Dishu Zhou, Roberto E López-Valiente, Samer G Mattar, Dongyin Guan

Faculty, Staff and Students Publications

The digestive system is essential for nutrient absorption, processing, and waste elimination. The expression of many genes and physiological processes within this system exhibits a 24-h rhythmicity. However, modern lifestyle factors, such as jet lag, shift work, and irregular eating patterns, significantly disrupt these rhythms, triggering various stress responses and contributing to numerous digestive disorders. Here, we focus on emerging studies on noncanonical clock regulators involved in stress responses, integrate these novel findings into the established model of the core circadian clock, and highlight recent advances in the development of novel therapeutics targeting these 24-h regulators. In addition, we discuss …


High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology Of Lung Cancer Consortium, Yanhong Liu, Yafang Li, Jinyoung Byun, Vikram R Shaw, Claudio Pikielny, Bo Peng, Chao Cheng, Spiridon Tsavachidis, Xiangjun Xiao, Dakai Zhu, Younghun Han, Ivan P Gorlov, Olga Y Gorlova, Michael Cole, Colette R Gaba, Erin L Crawford, Kristen Purrington, Ellen L Goode, Ping Yang, James Mckay, John K Field, Geoffrey Liu, Rayjean J Hung, Jun Xia, Jiyeon Choi, Matthew B Schabath, Jaclyn Lopiccolo, David C Christiani, Joan Bailey-Wilson, Ann G Schwartz, James C Willey, Diptasri Mandal, Susan M Pinney, Christopher I Amos May 2026

High-Penetrance Rare Variants Underlying Familial Lung Cancer Risk: Insights From Genetic Epidemiology Of Lung Cancer Consortium, Yanhong Liu, Yafang Li, Jinyoung Byun, Vikram R Shaw, Claudio Pikielny, Bo Peng, Chao Cheng, Spiridon Tsavachidis, Xiangjun Xiao, Dakai Zhu, Younghun Han, Ivan P Gorlov, Olga Y Gorlova, Michael Cole, Colette R Gaba, Erin L Crawford, Kristen Purrington, Ellen L Goode, Ping Yang, James Mckay, John K Field, Geoffrey Liu, Rayjean J Hung, Jun Xia, Jiyeon Choi, Matthew B Schabath, Jaclyn Lopiccolo, David C Christiani, Joan Bailey-Wilson, Ann G Schwartz, James C Willey, Diptasri Mandal, Susan M Pinney, Christopher I Amos

Faculty, Staff and Students Publications

Introduction: Rare, deleterious germline variants are key contributors to inherited lung cancer (LC) risk. The Genetic Epidemiology of LC Consortium (GELCC) has curated valuable high-risk LC families and is uniquely positioned to uncover rare, high-penetrance variants underlying familial LC (FLC).

Methods: We performed whole-genome and exome sequencing on germline DNA from 120 high-risk LC families (177 FLC cases, 309 unaffected relatives). We prioritized rare (allele frequency < 1% in the genome aggregation database), potentially deleterious variants present in two or more FLC cases. These variants were then validated in 10,085 sporadic LC (SLC) cases and 612,970 controls.

Results: We identified 118 candidate variants, 28 of which were validated in SLC with strong statistical support. We discovered a novel pathogenic axis of three truncating variants in GALNT6, MUC4, and ERBB3 genes, which …


Phenotypic Diversity And Outcomes In Pediatric Nmda Receptor Encephalitis: A 15-Year Retrospective Study From The Largest Children's Hospital In The United States, Alexander J Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M Yarimi, Kristen S Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O Murray May 2026

Phenotypic Diversity And Outcomes In Pediatric Nmda Receptor Encephalitis: A 15-Year Retrospective Study From The Largest Children's Hospital In The United States, Alexander J Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M Yarimi, Kristen S Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O Murray

Faculty, Staff and Students Publications

Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children. This single‐center retrospective analysis of NMDARE at the largest pediatric hospital in the United States between 2009 and 2024 screened 115 patients diagnosed with NMDARE. 103 had sufficient clinical data available for analyses. Two‐thirds were Hispanic, disproportionate to the Houston metro area demographics, and Hispanic patients had a higher CSF white cell count and antibody titer. Approximately one‐half of the patients with idiopathic NMDARE presented with a focal cortical phenotype that localized …


Interplay Between Genetic Ancestry, Self-Reported Race And Ethnicity, And Clinical Factors In Pediatric Acute Lymphoblastic Leukemia: A Redial Consortium Report, Pragati Kore, Jennifer M Geris, Maria Leon-Camarena, Maria I Castellanos, Olga A Taylor, Veronica Garcia-Morales, Austin L Brown, Pagna Sok, Jeremy M Schraw, Van Huynh, Kathleen F Ludwig, Laura J Klesse, Sandi L Pruitt, Amy E Hughes, Kevin Tien, Kenneth M Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Maria M Gramatges, Elizabeth G Atkinson, Philip J Lupo, Michael E Scheurer, Karen R Rabin May 2026

Interplay Between Genetic Ancestry, Self-Reported Race And Ethnicity, And Clinical Factors In Pediatric Acute Lymphoblastic Leukemia: A Redial Consortium Report, Pragati Kore, Jennifer M Geris, Maria Leon-Camarena, Maria I Castellanos, Olga A Taylor, Veronica Garcia-Morales, Austin L Brown, Pagna Sok, Jeremy M Schraw, Van Huynh, Kathleen F Ludwig, Laura J Klesse, Sandi L Pruitt, Amy E Hughes, Kevin Tien, Kenneth M Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Maria M Gramatges, Elizabeth G Atkinson, Philip J Lupo, Michael E Scheurer, Karen R Rabin

Faculty, Staff and Students Publications

Background: Pediatric acute lymphoblastic leukemia (ALL) is the most common cancer in children, and its incidence and outcomes vary by race and ethnicity.

Methods: The Reducing Ethnic Disparities in Acute Leukemia (REDIAL) Consortium has assembled a cohort of patients < 25 years at diagnosis to examine genetic and neighborhood-level factors influencing ALL. As the cohort is ongoing, for this report, we examined sociodemographic and cytogenetic factors that might be associated with ALL outcome disparities.

Results: Among 2,512 patients diagnosed between 2005 and 2020, we observed distinct patterns of genetic ancestry and residential characteristics across self-reported race and ethnicity. Latino children, who comprised 55.3% of the cohort, had a mean Amerindigenous ancestry proportion of 50.9%, whereas non-Latino White children exhibited a predominantly European ancestry (mean = 78%). Neighborhood-level analysis revealed significant socioeconomic and geographic differences by …


Dolutegravir Developmental Toxicity Is Mitigated By Magnesium And Folate In Zebrafish Embryos, Robert M Cabrera, Ahmed Mohamed, Ryoko Minowa, Katheryn A Neugebauer, Daniel A Gorelick May 2026

Dolutegravir Developmental Toxicity Is Mitigated By Magnesium And Folate In Zebrafish Embryos, Robert M Cabrera, Ahmed Mohamed, Ryoko Minowa, Katheryn A Neugebauer, Daniel A Gorelick

Faculty, Staff and Students Publications

Integrase strand transfer inhibitors have transformed human immunodeficiency virus (HIV) therapy, yet the widely prescribed drug dolutegravir (DTG) has been linked to developmental toxicity, and its teratogenic mechanism remains unclear. Here, we used zebrafish to dissect DTG toxicity during early vertebrate development. DTG exposure from 2-4 h post-fertilization (hpf) to 24 hpf produced high mortality and abnormal morphology. Co-treatment with folates partially restored normal morphology, whereas calcium had no effect. Strikingly, supplementation with magnesium (Mg) partially rescued DTG-exposed embryos, implicating Mg availability in protection. In competitive binding assays, Mg increased binding of folate to purified folate receptor (FOLR1) by 30% …


The "Hallett Sign" Of Functional Jerky Movement Disorder, Jon Stone, Anthony E Lang, Joseph Jankovic, Michele Tinazzi, Barbara A Dworetzky, Alan Carson, Marina A J Tijssen May 2026

The "Hallett Sign" Of Functional Jerky Movement Disorder, Jon Stone, Anthony E Lang, Joseph Jankovic, Michele Tinazzi, Barbara A Dworetzky, Alan Carson, Marina A J Tijssen

Faculty, Staff and Students Publications

No abstract provided.


Adhesion G Protein-Coupled Receptors, Tobias Langenhan, Garret R Anderson, Demet Araç, Gabriela Aust, Monserrat Avila-Zozaya, Sofie Morsing Bagger, Patrick Barth, Sandra Berndt, Stephen C Blacklow, Beatriz Blanco-Redondo, Antony A Boucard, James P Bridges, Lara-Sophie Brodmerkel, Kathleen M Caron, Yin Kwan Chung, Andrew N Dates, Virginea De Araujo Farias, Daniel Del Toro, Joseph G Duman, Felix B Engel, David M Favara, Caroline J Formstone, Chaoyu Fu, Alain Garcia De Las Bayonas, Anastasia Georgiadi, David E Gloriam, Randy A Hall, Jörg Hamann, Peter W Hildebrand, Cheng-Chih Hsiao, Bill X Huang, Jonathan A Javitch, Hee-Yong Kim, Robert J Kittel, Gunnar Kleinau, Richard Leduc, Ines Liebscher, Hsi-Hsien Lin, Joshua Linnert, Marie-Gabrielle Ludwig, David C Martinelli, Signe Mathiasen, Daniel Matúš, Mariam Melkumyan, Ana L Moreno-Salinas, Jan Mulder, Michael A Nash, Kasturi Pal, Daniel T Pederick, Nicole A Perry-Hauser, Xianhua Piao, Yu-Qi Ping, Dimitris G Placantonakis, Fabian Pohl, Simone Prömel, Mette M Rosenkilde, Laurent Sabbagh, Richard C Sando, Patrick Scheerer, Torsten Schöneberg, Elena Seiradake, Mareike Selcho, Florian Seufert, Abhishek K Singh, Georgios Skiniotis, Katja Spiess, Norbert Sträter, David Strutt, Thomas C Südhof, Jinpeng Sun, Gregory G Tall, Doreen Thor, Douglas G Tilley, Kimberley F Tolias, Mario Vallon, Erwin G Van Meir, Benoit Vanhollebeke, Giselle R Wiggin, Uwe Wolfrum, Jie Yan, Nathan A Zaidman, Yimin Zou, Nicole Scholz May 2026

Adhesion G Protein-Coupled Receptors, Tobias Langenhan, Garret R Anderson, Demet Araç, Gabriela Aust, Monserrat Avila-Zozaya, Sofie Morsing Bagger, Patrick Barth, Sandra Berndt, Stephen C Blacklow, Beatriz Blanco-Redondo, Antony A Boucard, James P Bridges, Lara-Sophie Brodmerkel, Kathleen M Caron, Yin Kwan Chung, Andrew N Dates, Virginea De Araujo Farias, Daniel Del Toro, Joseph G Duman, Felix B Engel, David M Favara, Caroline J Formstone, Chaoyu Fu, Alain Garcia De Las Bayonas, Anastasia Georgiadi, David E Gloriam, Randy A Hall, Jörg Hamann, Peter W Hildebrand, Cheng-Chih Hsiao, Bill X Huang, Jonathan A Javitch, Hee-Yong Kim, Robert J Kittel, Gunnar Kleinau, Richard Leduc, Ines Liebscher, Hsi-Hsien Lin, Joshua Linnert, Marie-Gabrielle Ludwig, David C Martinelli, Signe Mathiasen, Daniel Matúš, Mariam Melkumyan, Ana L Moreno-Salinas, Jan Mulder, Michael A Nash, Kasturi Pal, Daniel T Pederick, Nicole A Perry-Hauser, Xianhua Piao, Yu-Qi Ping, Dimitris G Placantonakis, Fabian Pohl, Simone Prömel, Mette M Rosenkilde, Laurent Sabbagh, Richard C Sando, Patrick Scheerer, Torsten Schöneberg, Elena Seiradake, Mareike Selcho, Florian Seufert, Abhishek K Singh, Georgios Skiniotis, Katja Spiess, Norbert Sträter, David Strutt, Thomas C Südhof, Jinpeng Sun, Gregory G Tall, Doreen Thor, Douglas G Tilley, Kimberley F Tolias, Mario Vallon, Erwin G Van Meir, Benoit Vanhollebeke, Giselle R Wiggin, Uwe Wolfrum, Jie Yan, Nathan A Zaidman, Yimin Zou, Nicole Scholz

Faculty, Staff and Students Publications

Adhesion G protein-coupled receptors (aGPCRs) constitute a structurally and functionally distinct group within the superfamily of GPCRs. In 2015, the International Union of Pharmacology invited the Adhesion GPCR Consortium to publish a comprehensive review about aGPCRs and establish a unified nomenclature. Since then, substantial progress has been made in delineating the biological roles, molecular architecture, biochemical properties, expression profiles, ligand repertoire, and activation and signaling strategies of aGPCRs. Commensurate with these advances, their relevance to human pathophysiology has become increasingly apparent. In a coordinated effort, the Adhesion GPCR Consortium has reviewed recent progress in this field and provides a comprehensive …


Mif-Cd74 Signaling Drives Immune Modulation In Medulloblastoma, Benjamin Draper, Zhen You, Dean Thompson, Xu Guo, Alaide Morcavallo, Diego Chillon Pino, Carlos Lorenzo Gido Nery, Sumana Shrestha, Chantelle E Bowers, Courtney Himsworth, Alberto Delaidelli, Bethany Remeniuk, Sonia Morlando, Brandon Wade, Freya Gordon, Yara Sanchez-Corrales, Bei Hopkins, Natalie Monteiro, Darren Locke, Miao Liu, Jacob Torrejon Diaz, Kevin Greenslade, Barbara Martins Da Costa, Karen Barker, Colin Kwok, Olumide Ogunbiyi, Anya Fletcher, Stacey Richardson, Carlos Custodia, Rafael Roque, Thomas Jackson, Regan Barfoot, Sergi Castellano, Rebecca M Hill, Olivier Saulnier, Thomas S Jacques, Michael D Taylor, Claudia C Faria, Olivier Ayrault, Poul H Sorensen, John Anderson, Louis Chesler, L Frank Huang, Steven C Clifford, Laura K Donovan May 2026

Mif-Cd74 Signaling Drives Immune Modulation In Medulloblastoma, Benjamin Draper, Zhen You, Dean Thompson, Xu Guo, Alaide Morcavallo, Diego Chillon Pino, Carlos Lorenzo Gido Nery, Sumana Shrestha, Chantelle E Bowers, Courtney Himsworth, Alberto Delaidelli, Bethany Remeniuk, Sonia Morlando, Brandon Wade, Freya Gordon, Yara Sanchez-Corrales, Bei Hopkins, Natalie Monteiro, Darren Locke, Miao Liu, Jacob Torrejon Diaz, Kevin Greenslade, Barbara Martins Da Costa, Karen Barker, Colin Kwok, Olumide Ogunbiyi, Anya Fletcher, Stacey Richardson, Carlos Custodia, Rafael Roque, Thomas Jackson, Regan Barfoot, Sergi Castellano, Rebecca M Hill, Olivier Saulnier, Thomas S Jacques, Michael D Taylor, Claudia C Faria, Olivier Ayrault, Poul H Sorensen, John Anderson, Louis Chesler, L Frank Huang, Steven C Clifford, Laura K Donovan

Faculty, Staff and Students Publications

Background: Relapsed medulloblastoma remains a significant therapeutic challenge as it is near universally fatal. The tumor microenvironment of medulloblastoma plays a critical role in tumor progression, influencing tumor growth, immune evasion, and therapeutic resistance. We hypothesized that defining tumor-immune interactions in diagnostic and relapsed medulloblastoma may uncover mechanisms of immune evasion and identify novel therapeutic targets.

Methods: We analyzed paired primary and recurrent RNA-sequencing data from 140 medulloblastoma patients to profile immune cell composition and validate spatial relationships within the TME. To identify key tumor-immune interactions, we developed a novel algorithm to detect receptor-ligand pairs using single-cell RNA-sequencing data. These …


Robot-Assisted Resection Of Diaphragmatic And Hepatorenal Recess Peritoneal Endometriosis: Two Cases And A Narrative Review, Xiaoming Guan, Qiannan Yang, Daniel Y Lovell, Chunhua Zhang May 2026

Robot-Assisted Resection Of Diaphragmatic And Hepatorenal Recess Peritoneal Endometriosis: Two Cases And A Narrative Review, Xiaoming Guan, Qiannan Yang, Daniel Y Lovell, Chunhua Zhang

Faculty, Staff and Students Publications

In this report, we describe two cases of diaphragmatic endometriosis with concurrent hepatorenal recess peritoneal involvement managed using robotic-assisted laparoscopic surgery with the da Vinci Xi platform. In both patients, diaphragmatic implants and hepatorenal recess peritoneal lesions were excised en bloc, followed by resection of additional pelvic and abdominal lesions. Case 1 involved a 45-year-old woman whose pathology confirmed endometriosis in 28 of 46 sites, including the diaphragm, umbilicus, bowel, hepatorenal recess peritoneum, and pelvic peritoneum. Case 2 involved a 32-year-old woman with histopathologic evidence of endometriosis in 26 of 34 resected sites, including the appendix, diaphragm, hepatorenal recess peritoneum, …


Assessment Of Correctness, Content Omission, And Risk Of Harm In Large Language Model Responses To Ophthalmology Continuing Medical Education Questions, Jacqueline L Chen, Amanda J Lu, Rohan Verma, Li Wang, Douglas D Koch, Allison J Chen May 2026

Assessment Of Correctness, Content Omission, And Risk Of Harm In Large Language Model Responses To Ophthalmology Continuing Medical Education Questions, Jacqueline L Chen, Amanda J Lu, Rohan Verma, Li Wang, Douglas D Koch, Allison J Chen

Faculty, Staff and Students Publications

Purpose: To evaluate the accuracy and prose responses of 2 large language models (LLMs) to ophthalmology continuing medical education questions.

Design: Question prompts and multiple choice (MC) answer options were input into the 2 LLMs, and responses were analyzed for accuracy and assessed for evidence of correctness, completeness, bias, and potential harm using a previously reported standardized rubric.

Subjects: Basic and Clinical Science Course questions and MC answer options from the American Academy of Ophthalmology question bank were used as inputs into the 2 LLMs (ChatGPT-4 and Google Vertex's Gemini Pro 1.5).

Methods: The MC responses were assessed for accuracy …


Impact Of Obesity On Complication Rates After Treatment Of Slipped Capital Femoral Epiphysis: A Retrospective Cohort Database Study, Holden Archer, Scott B Rosenfeld, Pablo Castañeda, Jessica A Mcgraw-Heinrich, Simon P Kelley May 2026

Impact Of Obesity On Complication Rates After Treatment Of Slipped Capital Femoral Epiphysis: A Retrospective Cohort Database Study, Holden Archer, Scott B Rosenfeld, Pablo Castañeda, Jessica A Mcgraw-Heinrich, Simon P Kelley

Faculty, Staff and Students Publications

Background: While obesity is a well-established risk factor for slipped capital femoral epiphysis (SCFE), limited data exist regarding its impact on postoperative complication rates. This study aimed to evaluate the association between obesity and complications following SCFE treatment.

Methods: We queried a large national database for pediatric patients who underwent treatment for SCFE between June 2005 and June 2025. We divided this cohort into patients with obesity and patients without obesity. We matched the cohorts with a propensity scoring algorithm on a one-to-one basis, resulting in 1,175 patients in each group. We tracked outcomes including infection, pulmonary embolism (PE), chondrolysis, …


Optical Coherence Tomography As An Emerging Technique For Identifying Pediatric Middle Ear Effusion, Roger Neuberger, Jeffrey Carter, Adriana Dives, Ana Sofia C Ibarrola, Maritsa Ixba, Elton Lambert, Yi-Chun Liu, Anna H Messner May 2026

Optical Coherence Tomography As An Emerging Technique For Identifying Pediatric Middle Ear Effusion, Roger Neuberger, Jeffrey Carter, Adriana Dives, Ana Sofia C Ibarrola, Maritsa Ixba, Elton Lambert, Yi-Chun Liu, Anna H Messner

Faculty, Staff and Students Publications

Objective: Acute otitis media (AOM) and otitis media with effusion (OME) rely on accurate characterization of middle ear effusion (MEE). Optical coherence tomography (OCT) is a potential modality for noninvasive analysis of MEE, thereby assisting with otitis media diagnosis. This study aims to compare the diagnostic performance of OCT with otoscopy and tympanometry in pediatric patients.

Methods: A prospective convenience sample of 164 pediatric patients aged 6 months to 12 years was recruited from two tertiary care pediatric otolaryngology clinics. During their visit, each child underwent otoscopy, tympanometry, and OCT evaluation. Scans were reviewed by both a fellowship-trained pediatric otolaryngologist …


Derivation And Validation Of The Pediatric Community-Acquired Pneumonia Severity (Pedcaps) Score: A Prospective Cohort Study, Todd A Florin, Ron Reeder, Lilliam Ambroggio, Richard M Ruddy, Samir S Shah, Allison Cator, Matthew J Lipshaw, Geoffrey A Capraro, Laura F Sartori, Amy Y Cheng, Leah Tzimenatos, Patrick S Walsh, Claudia R Morris, Chris A Rees, Son H Mclaren, Tamar R Lubell, Chari D Larsen, Justin Moher, Eileen J Klein, Shubhada Hooli, Nathan Kuppermann May 2026

Derivation And Validation Of The Pediatric Community-Acquired Pneumonia Severity (Pedcaps) Score: A Prospective Cohort Study, Todd A Florin, Ron Reeder, Lilliam Ambroggio, Richard M Ruddy, Samir S Shah, Allison Cator, Matthew J Lipshaw, Geoffrey A Capraro, Laura F Sartori, Amy Y Cheng, Leah Tzimenatos, Patrick S Walsh, Claudia R Morris, Chris A Rees, Son H Mclaren, Tamar R Lubell, Chari D Larsen, Justin Moher, Eileen J Klein, Shubhada Hooli, Nathan Kuppermann

Faculty, Staff and Students Publications

Introduction: Community-acquired pneumonia (CAP) is a frequent and costly cause of pediatric emergency department (ED) visits and hospitalizations. Previous prognostic tools for CAP are limited by small samples, single-center or retrospective designs, lack of generalizability to ED settings, lack of biomarkers, or limited objective data. To overcome these limitations, we will derive and externally validate a prediction rule for pediatric CAP severity in a large, multicenter prospective cohort.

Methods: This is a prospective cohort study of children 3 months to 18 years old with CAP who present to EDs within the Pediatric Emergency Care Applied Research Network. Enrollment began 8/2023 …


Immigration Enforcement In Protected Areas-Implications For Health And Equitable Access To Care, Eric A Russell, Carmelle Wallace May 2026

Immigration Enforcement In Protected Areas-Implications For Health And Equitable Access To Care, Eric A Russell, Carmelle Wallace

Faculty, Staff and Students Publications

No abstract provided.


Antibiotics Aren’T Enough, Andrew R Dinardo, Christoph Lange May 2026

Antibiotics Aren’T Enough, Andrew R Dinardo, Christoph Lange

Faculty, Staff and Students Publications

No abstract provided.


Exploring Bidirectionality In Global Health Partnerships: Perspectives From U.S. Pediatric Residency Programs, Anik Patel, Pauline Kamau, Justus Simba, Ashley Combs, Adelaide Barnes, Kathy Ferrer, Heather Haq, Duncan K Hau, Lee Morris, Brittany Murray, Amy Rule, Reena P Tam, Lisa Umphrey, Megan S Mchenry May 2026

Exploring Bidirectionality In Global Health Partnerships: Perspectives From U.S. Pediatric Residency Programs, Anik Patel, Pauline Kamau, Justus Simba, Ashley Combs, Adelaide Barnes, Kathy Ferrer, Heather Haq, Duncan K Hau, Lee Morris, Brittany Murray, Amy Rule, Reena P Tam, Lisa Umphrey, Megan S Mchenry

Faculty, Staff and Students Publications

Introduction Despite growing interest, little guidance exists to re-evaluate global health partnerships (GHPs) through promoting bidirectionality. This study aims to understand the perspectives of United States (U.S.) pediatric global health (GH) faculty on institutional bidirectional practices to inform future discussions with international collaborators. Methods An internally, iteratively developed REDCap-based online survey (REDCap, Vanderbilt University, Nashville, TN), by our diverse author group, collected qualitative data from January 18 to February 20, 2023. Free-text responses were reviewed and coded inductively, with findings framed to generate themes for subsequent engagement with international partners. Results Of the 88 U.S. programs that identify as having …


Case Series: Joubert Syndrome And Eosinophilic Esophagitis, Jonathon Schening, Stephanie Leon-Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari May 2026

Case Series: Joubert Syndrome And Eosinophilic Esophagitis, Jonathon Schening, Stephanie Leon-Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari

Faculty, Staff and Students Publications

Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects. The underlying ciliopathy causing JS may also contribute to gastrointestinal symptoms and immune dysregulation via Wnt signaling and impaired epithelial maintenance. Dysmotility including Hirschsprung disease has been documented at increased rates in JS and in other ciliopathies. Our case series highlights how JS patients frequently exhibit feeding intolerance, vomiting, and poor growth, which may raise suspicion for an underlying gastrointestinal condition, such as eosinophilic …


Risk Factors For The Development Of Food Allergy In Infants And Children: A Systematic Review And Meta-Analysis, Nazmul Islam, Alexandro W L Chu, Falana Sheriff, Farid Foroutan, Gordon H Guyatt, Romina Brignardello-Petersen, Paul Oykhman, Alfonso Iorio, Ariel Izcovich, Katherine M Morrison, Yetiani Roldan Benitez, Rachel J Couban, Dorota Borovsky, Yiming Zhang, Leonardo Ologundudu, Keerthana Pasumarthi, Syed Fahad Farooq, Kyle Tong, Wang-Choi Tang, Haseeb Faisal, Muhammad Faran Khalid, Mohammad Saad Asif, Shannon French, Susan Waserman, R Sharon Chinthrajah, Hugh A Sampson, S Shahzad Mustafa, Jay A Lieberman, Kirsi M Järvinen, Sally Bailey, Philippe Bégin, Scott H Sicherer, Jennifer Gerdts, Melanie Carver, Lynda Mitchell, Kelly Cleary, Matthew J Greenhawt, Julie Wang, Aikaterini Anagnostou, Marcus S Shaker, Anita Chandra-Puri, Patricia C Fulkerson, Robert A Wood, Derek K Chu May 2026

Risk Factors For The Development Of Food Allergy In Infants And Children: A Systematic Review And Meta-Analysis, Nazmul Islam, Alexandro W L Chu, Falana Sheriff, Farid Foroutan, Gordon H Guyatt, Romina Brignardello-Petersen, Paul Oykhman, Alfonso Iorio, Ariel Izcovich, Katherine M Morrison, Yetiani Roldan Benitez, Rachel J Couban, Dorota Borovsky, Yiming Zhang, Leonardo Ologundudu, Keerthana Pasumarthi, Syed Fahad Farooq, Kyle Tong, Wang-Choi Tang, Haseeb Faisal, Muhammad Faran Khalid, Mohammad Saad Asif, Shannon French, Susan Waserman, R Sharon Chinthrajah, Hugh A Sampson, S Shahzad Mustafa, Jay A Lieberman, Kirsi M Järvinen, Sally Bailey, Philippe Bégin, Scott H Sicherer, Jennifer Gerdts, Melanie Carver, Lynda Mitchell, Kelly Cleary, Matthew J Greenhawt, Julie Wang, Aikaterini Anagnostou, Marcus S Shaker, Anita Chandra-Puri, Patricia C Fulkerson, Robert A Wood, Derek K Chu

Faculty, Staff and Students Publications

Importance: The incidence and risk (predictive) factors for early life food allergy development remain uncertain.

Objective: To estimate the incidence and quantify risk factors for food allergy development.

Data sources: MEDLINE and Embase were systematically searched to January 1, 2025. Data were analyzed from June 1, 2025, to November 25, 2025.

Study selection: Incidence estimates included studies confirming food allergy via food challenge. Risk factor analyses included cohort, case-control, and cross-sectional studies in any language assessing children younger than 6 years using multivariable analyses.

Data extraction and synthesis: Paired reviewers independently extracted data. Random-effects meta-analyses pooled incidence and adjusted odds …


Plasma Proteins Associated With Psychosocial Factors And Heart Disease: The Jackson Heart Study, Sara N O'Brien, Madeline G Gillman, Michael D Green, Daniel E Cruz, James S Floyd, Susan Hankinson, Daniel H Katz, Xiaojuan Liu, Michelle C Odden, Bruce M Psaty, Alexander P Reiner, Jerome I Rotter, Stephen S Rich, Robert E Gerszten, Amil Shah, Mario Sims, Usman A Tahir, Lesley F Tinker, Alexis C Wood, Bing Yu, Anthony S Zannas, Laura M Raffield, Láshauntá M Glover May 2026

Plasma Proteins Associated With Psychosocial Factors And Heart Disease: The Jackson Heart Study, Sara N O'Brien, Madeline G Gillman, Michael D Green, Daniel E Cruz, James S Floyd, Susan Hankinson, Daniel H Katz, Xiaojuan Liu, Michelle C Odden, Bruce M Psaty, Alexander P Reiner, Jerome I Rotter, Stephen S Rich, Robert E Gerszten, Amil Shah, Mario Sims, Usman A Tahir, Lesley F Tinker, Alexis C Wood, Bing Yu, Anthony S Zannas, Laura M Raffield, Láshauntá M Glover

Faculty, Staff and Students Publications

Background: Knowledge of proteomic mechanisms explaining the link between psychosocial stress and cardiovascular disease is limited. This study aimed to (1) identify plasma proteins associated with psychosocial factors and (2) assess associational pathways between psychosocial factors, identified proteins, and incident cardiovascular disease events in a discovery cohort, JHS (Jackson Heart Study), and 2 replication cohorts, the CHS (Cardiovascular Health Study), and the MESA (Multi-Ethnic Study of Atherosclerosis).

Methods: JHS participants from exam 1 (2000-2004) with SomaScan 1.3k platform proteomics data were included (n=2143, mean age=55.3). Depressive symptoms and perceived stress scores were measured via the 20-item Center for Epidemiological Studies …


Development And Pilot Testing Of Transdiagnostic Exposure Therapy/Behavioral Activation For Autistic Adolescents With Internalizing Disorders, Andrew G Guzick, Elizabeth A Kaplan-Kahn, Jessica Szu-Chi Cheng, Callie Murphy, Ogechi C Onyeka, David Riddle, Tracy Dibbs, Leandra N Berry, Robin P Goin-Kochel, Eric A Storch May 2026

Development And Pilot Testing Of Transdiagnostic Exposure Therapy/Behavioral Activation For Autistic Adolescents With Internalizing Disorders, Andrew G Guzick, Elizabeth A Kaplan-Kahn, Jessica Szu-Chi Cheng, Callie Murphy, Ogechi C Onyeka, David Riddle, Tracy Dibbs, Leandra N Berry, Robin P Goin-Kochel, Eric A Storch

Faculty, Staff and Students Publications

Internalizing disorders disproportionately affect autistic adolescents, though limited research has focused on tailoring therapy for this population. The purposes of this paper were (1) to describe the development of a transdiagnostic exposure therapy/behavioral activation intervention for autistic adolescents with internalizing disorders, and (2) to present a pilot test of feasibility, acceptability, and efficacy of the intervention. The development of this therapy is described in detail, which prioritized the following domains: (1) building on the existing evidence base of exposure-based cognitive behavioral therapy for autistic youth with anxiety disorders, (2) involving caregivers considerably, (3) incorporating autism-specific considerations into case conceptualization and …


Ixodid And Flea Infestations And Associated Bacteria On Two Sympatric Felid Species In South Texas, Allan T Showler, Hilary Swarts, Maya Murry, Alisa Nelson, Alexander R Kneubehl, Sarah M Gunter May 2026

Ixodid And Flea Infestations And Associated Bacteria On Two Sympatric Felid Species In South Texas, Allan T Showler, Hilary Swarts, Maya Murry, Alisa Nelson, Alexander R Kneubehl, Sarah M Gunter

Faculty, Staff and Students Publications

Ixodid ticks and fleas parasitize wild felids and can transmit pathogens of veterinary and public health concern. We identified ixodid and flea species collected from sympatric South Texas bobcats, L. rufus, and ocelots, L. pardalis. Greater diversities of ixodids were found on both felids than in previous reports, with seven species in three genera on L. rufus and six species in three genera on L. pardalis. We report first findings of tropical horse tick, Dermacentor nitens, on L. rufus in Texas, and Ixodes keiransi on both felids in Texas. Although false cayenne tick, Amblyomma tenellum, nymphs were the most abundant …