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Articles 110341 - 110370 of 110380
Full-Text Articles in Entire DC Network
Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift
Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift
Faculty, Staff and Students Publications
Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), exhibits marked racial disparities in incidence, progression, and clinical outcomes. While diet, lifestyle, and socioeconomic factors have been shown to influence these disparities, biological mechanisms underlying racial differences in MASLD risk remain poorly understood. We hypothesized that race-associated variation in hepatic gene expression may contribute to differential susceptibility and progression of MASLD. To test this hypothesis, we analyzed publicly available gene expression data from liver biopsies obtained from over 300 Black and White individuals undergoing bariatric surgery. Gene expression profiles were compared across four histological stages: …
Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso
Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso
Faculty, Staff and Students Publications
Wastewater-based epidemiology (WBE) is the analysis of wastewater to detect pathogen levels or activity for public health awareness or action. Pioneered in the 1940s, WBE underwent a resurgence during the COVID-19 pandemic, providing important information about number of cases, outbreaks, and seasonal impact. With advancements in detection technologies and growing interest in environmental surveillance, WBE is poised to become a standard practice in public health monitoring. Here, we provide an overview of the current state of the art of pathogen WBE, including methods of molecular detection, analysis of wastewater data, real-world applications and programs, public health interventions, and benefits and …
Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos
Editorial: Advances In Phage Applications: Deciphering Phage Biological And Ecological Mechanisms Through Metagenomics, Tasha M Santiago-Rodriguez, Gary A Toranzos
Faculty, Staff and Students Publications
No abstract provided.
Identification Of Cand1 As A Dna-Dependent Protein Kinase-Regulated Coactivator Of Androgen Receptor And The Arv7 Splice Variant, Ross A Hamilton, Basil Paul, Ping Yi, Kimal Rajapakshe, Anil K Panigrahi, Sandra L Grimm, Cristian Coarfa, Anna Malovannaya, Nancy L Weigel, David M Lonard, Charles E Foulds
Identification Of Cand1 As A Dna-Dependent Protein Kinase-Regulated Coactivator Of Androgen Receptor And The Arv7 Splice Variant, Ross A Hamilton, Basil Paul, Ping Yi, Kimal Rajapakshe, Anil K Panigrahi, Sandra L Grimm, Cristian Coarfa, Anna Malovannaya, Nancy L Weigel, David M Lonard, Charles E Foulds
Faculty, Staff and Students Publications
ARv7, the most prevalent androgen receptor (AR) variant in castration-resistant prostate cancer, lacks the ligand binding domain (LBD), rendering it resistant to LBD-targeted therapies. Identifying new therapeutic targets requires defining the coregulators and associated regulatory enzymes that govern AR and ARv7 transcriptional activity. Here, we have developed a cell-free DNA pulldown assay employing androgen response elements (AREs) to isolate and characterize the AR- and ARv7-associated coregulator complexes formed on DNA. Mass spectrometry analyses of ARE DNA pulldowns revealed previously unrecognized AR and ARv7 associating coregulators, such as cullin-associated NEDD8-dissociated protein 1 (CAND1), in addition to previously known coregulators. ARv7 showed …
Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore
Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore
Faculty, Staff and Students Publications
Helicobacter pylori (H. pylori) is a human bacterial pathogen that causes one of the most common chronic bacterial infections worldwide. The microorganism has been classified by the International Agency for Research on Cancer as a Group I carcinogen. While the etiological link to gastric cancer is well established, the precise molecular and cellular mechanisms driving this transformation are highly complex and incompletely understood. Fundamentally, the infection results from the chronic presence of acute on chronic gastric mucosal inflammation. H. pylori pathogenicity is increased by bacterial virulence factors including the cytotoxin-associated gene A (CagA) and Vacuolating cytotoxin A (VacA) …
Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth
Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth
Faculty, Staff and Students Publications
Antigenic variation enables immune evasion of pathogens, yet the mechanisms for the rapid change in their antigens without loss of structural and functional features are not fully known. Tick-borne relapsing fever (TBRF) spirochetes of the genus Borrelia can be used as a model because their variable major proteins (Vmps) drive antigenic variation followed by recurrent waves of bacteremia. In this study we generated the genome of Borrelia persica LMU-C01 and evaluated Vmp structure across relapsing fever Borrelia species. Borrelia persica was found to have a genome of 1.7Mb with one linear chromosome, 12 linear and one circular plasmids. Telomeric hairpin …
Hybrid Sars-Cov-2 Immunity Among Frontline Workers In A High-Tourism Setting: A Community-Based Serosurvey In Ambergris Caye, Belize, June 2022, Oluwadara Okeremi, Ella Hawes, Anh N Ly, Russell Manzanero, Sarah M Gunter, Shannon E Ronca, Allison Lino, Allyson Hidalgo, Meghan Si, Allison Stewart-Ruano, Adriana Maliga, Eric J Nilles, Gerhaldine Morazan, Kristy O Murray
Hybrid Sars-Cov-2 Immunity Among Frontline Workers In A High-Tourism Setting: A Community-Based Serosurvey In Ambergris Caye, Belize, June 2022, Oluwadara Okeremi, Ella Hawes, Anh N Ly, Russell Manzanero, Sarah M Gunter, Shannon E Ronca, Allison Lino, Allyson Hidalgo, Meghan Si, Allison Stewart-Ruano, Adriana Maliga, Eric J Nilles, Gerhaldine Morazan, Kristy O Murray
Faculty, Staff and Students Publications
Tourism is central to Belize's economy, yet the influx of international travelers may contribute to infectious disease introduction and transmission among local workers, including SARS-CoV-2. In June 2022, we conducted a cross-sectional seroepidemiologic study among tourism and government workers in the tropical island tourism center of Ambergris Caye, Belize. The goal of this study was to determine SARS-CoV-2 antibody prevalence for both vaccination (anti-spike protein) and natural infection (anti-nucleocapsid protein), vaccine uptake, history of COVID-like symptoms, and risks for infection two years into the pandemic. Workers from 30 hotels and government agencies were enrolled. Participants completed questionnaires to capture demographics, …
Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen
Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen
Faculty, Staff and Students Publications
T cell therapy has proven challenging for pancreatic ductal adenocarcinoma (PDAC), partly due to heterogeneous expression of tumor-associated antigens (TAAs). To address tumor heterogeneity and mitigate immune evasion, an ex vivo expanded, polyclonal, T helper 1 cell-polarized T cell product targeting five TAAs—PRAME, SSX2, MAGEA4, Survivin and NY-ESO-1—was developed. These antigens were chosen based on their tumor specificity, oncogenicity, immunogenicity and level of expression. In a phase 1/2 trial, this autologous nonengineered T cell product was administered (1 × 107 cells m−2 per infusion) monthly to patients with advanced PDAC responding (arm A, n = 13) or refractory (arm B, …
Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer
Discovery Of Genetic Susceptibility Variants In Pediatric And Adult Ependymoma, Joshua D Strauss, Priya B Shetty, Spiridon Tsavachidis, Jinyoung Byun, Stephen C Mack, Xiao Xiangjun, Terri S Armstrong, Mark R Gilbert, (On Behalf Of Nci-Connect);, Lisa Mirabello, Smita Bhatia, Wendy M Leisenring, Lindsay M Morton, Gregory T Armstrong, Jon Foss-Skiftesvik, Christian Munch Hagen, Jonas Bybjerg-Grauholm, (On Behalf Of Gicc), Manel Ghozal, Audrey Bonaventure, Jacqueline Clavel, Melissa L Bondy, Christopher I Amos, Thanh T Hoang, Michael E Scheurer
Faculty, Staff and Students Publications
Background: Ependymoma is a malignancy of the neuroepithelium-derived ependyma that lines the spinal cord and ventricles of the brain, occurring most frequently in young children and older adults. Genetic susceptibility to ependymoma has proven difficult to assess due to disease rarity.
Methods: We performed genome-wide association studies (GWAS) of 478 ependymoma patients and 4,841 disease-free controls of European ancestry. Ependymoma patients consisted of 117 children (< 18 years old) with whole-genome sequencing (WGS), 142 children with genotyping, and 219 adults (≥18 years old) with genotyping. Genotyped samples were imputed using the 1,000 Genomes Project as the reference panel and underwent quality control filtering. The GWAS was performed separately by age group and technology (genotyped or WGS). GWAS variants were considered significant at P < 5 × 10-8.
Results: Among pediatric subjects with WGS data, we identified a significant intronic variant in EDIL3 (rs149378, P = 1.9 × 10-8) and a nearly significant intronic variant in LHX4 (rs79008224, P = 7.2 …
Part 1: Rough Seas And Quartering Winds: Can Hampton Roads Grow In Uncertain Times?, Dragas Center For Economic Analysis And Policy, Old Dominion University
Part 1: Rough Seas And Quartering Winds: Can Hampton Roads Grow In Uncertain Times?, Dragas Center For Economic Analysis And Policy, Old Dominion University
State of the Region Reports: Hampton Roads
We discuss the region’s economic performance in 2025 and provide an assessment of the prospects for growth in 2026 and beyond. We discuss how the resident population of Hampton Roads has grown this century and explore the components of population change. We examine measures of the region’s labor market, including its civilian labor force, individual employment, and nonfarm payrolls (jobs). While the evidence points to a continued expansion in 2026, we also note that the challenges to growth continue to mount.
Distributed Vibration Sensing For Identification Of Loose Connectors In Coaxial Data Transmission Lines, Saidanvar Esanjonovich Valiev, Anthony C. Okafor, Jeremiah J. Rittenhouse, Jie Huang, Daniel S. Stutts
Distributed Vibration Sensing For Identification Of Loose Connectors In Coaxial Data Transmission Lines, Saidanvar Esanjonovich Valiev, Anthony C. Okafor, Jeremiah J. Rittenhouse, Jie Huang, Daniel S. Stutts
Mechanical and Aerospace Engineering Faculty Research & Creative Works
This study investigates the effect of vibration-induced loose connections on signal reflection (S11) for loose connection identification in aerospace coaxial cables using distributed sensing approach, which is effective in filtering the noise and identifying minor discontinuities. In this approach, a sliding gated window is applied to S11 signal, a fast Fourier transform is performed over the gated windows, cross-correlation is computed between the baseline and vibration-affected signals, and the standard deviation is mapped along the cable length. Sinewave signals from 9 kHz to 5 GHz were swept through cables with vibrating connectors under three conditions: fully tightened, loosened by 180°, …
Design, Construction, And Initial Testing Of A Oxy-Acetylene Testing Facility, Blake Bowman, Davide Viganò
Design, Construction, And Initial Testing Of A Oxy-Acetylene Testing Facility, Blake Bowman, Davide Viganò
Mechanical and Aerospace Engineering Faculty Research & Creative Works
Thermal Protection Systems (TPS) are critical for atmospheric re-entry and hypersonic flight vehicles, yet ground-based evaluation of TPS materials remains challenging due to the cost, complexity, and limited availability of large arc-jet and inductively coupled plasma (ICP) facilities. Oxy-acetylene testing provides a low-cost and accessible alternative for preliminary material screening, sensor development, and fundamental studies of material response under high heat-flux conditions. This paper presents the design, construction, and initial validation of the High-Enthalpy Acetylene Testing (HEAT) facility at Missouri University of Science and Technology. The facility incorporates a modular experimental architecture, independently controlled oxygen and acetylene mass-flow systems, and …
Genome-Wide Association Study Identifies And Validates Genetic Variation In The Rig-I/Mavs Signaling Pathway Associated With Hiv-Related Kaposi Sarcoma In Children And Adults, Casey L Mcatee, Erin Peckham-Gregory, Pagna Sok, Melissa Richard, Luis Olivares, Deborah Marquez-Do, Grace Kisitu, Jeffrey Martin, Nader Kim El-Mallawany, Carl E Allen, Joseph Lubega, Michael E Scheurer
Genome-Wide Association Study Identifies And Validates Genetic Variation In The Rig-I/Mavs Signaling Pathway Associated With Hiv-Related Kaposi Sarcoma In Children And Adults, Casey L Mcatee, Erin Peckham-Gregory, Pagna Sok, Melissa Richard, Luis Olivares, Deborah Marquez-Do, Grace Kisitu, Jeffrey Martin, Nader Kim El-Mallawany, Carl E Allen, Joseph Lubega, Michael E Scheurer
Faculty, Staff and Students Publications
Introduction: Immune deficiency and infection with human herpesvirus-8 (HHV-8) are established component causes of Kaposi sarcoma (KS), but they are insufficient to cause disease in most people at risk. Therefore, we hypothesized that genetic variation may contribute to KS risk in children and adults, as well as contribute to its unique epidemiology in sub-Saharan Africa.
Methods: To test this hypothesis, we conducted a two-phase genome-wide association study (GWAS): a discovery study in perinatally HIV-infected children (45 KS cases, 91 controls), followed by validation of significant results in a sample of adults living with HIV (215 cases, 262 controls). After standard …
Epigenetic Crosstalk In Neuroblastoma Development And Progression, Nathan Drolet, Amber Wolf, Joanna Yi, Eveline Barbieri
Epigenetic Crosstalk In Neuroblastoma Development And Progression, Nathan Drolet, Amber Wolf, Joanna Yi, Eveline Barbieri
Faculty, Staff and Students Publications
Neuroblastoma (NB), a pediatric malignancy of the peripheral nervous system, accounts for 15% of pediatric cancer deaths and remains a major challenge for cancer therapy. NB originates from sympathoadrenal (SA) progenitors of the neural crest (NC) cell lineage, whose formation and differentiation are controlled by epigenetic mechanisms. Although signaling pathways and epigenetic factors implicated in NB tumorigenesis have been well-described, a holistic understanding of how development and epigenetics overlap to drive NB is lacking. By exploring vital interplays and co-dependencies between key pathways and their epigenetic control in NC development, we have gained novel insights into the mechanisms governing NB …
Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Jeffrey Jones, Aly Alrabaa, William Decker, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert
Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Jeffrey Jones, Aly Alrabaa, William Decker, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert
Faculty, Staff and Students Publications
Many patients with advanced solid tumors ultimately develop resistance to conventional therapies, with especially limited options for those experiencing rapid progression or poor performance status, highlighting the need for personalized immunotherapies capable of inducing durable responses. In this retrospective case series, we describe the clinical course and outcomes of five adults (4 male, 1 female; median age 51 years [range, 39-62]) with metastatic solid tumors who achieved complete and durable remission following doubly loaded autologous dendritic cell therapy after failure of standard treatments, such as immune checkpoint inhibition, radiation, surgery, or endocrine therapy. Five patients, including prostate adenocarcinoma (n=1), malignant …
Metabolites Produced By Agat+ Cells Support Regeneration In The Planarian Schmidtea Mediterranea, Aubrey M Kent, Carlos Guerrero-Hernández, Carolyn Brewster, Sean Mckinney, Jason A Morrison, Mary C Mckinney, Eric J Ross, Frederick G Mann, Blair W Benham-Pyle, Alejandro Sánchez Alvarado
Metabolites Produced By Agat+ Cells Support Regeneration In The Planarian Schmidtea Mediterranea, Aubrey M Kent, Carlos Guerrero-Hernández, Carolyn Brewster, Sean Mckinney, Jason A Morrison, Mary C Mckinney, Eric J Ross, Frederick G Mann, Blair W Benham-Pyle, Alejandro Sánchez Alvarado
Faculty, Staff and Students Publications
Planarians exhibit extraordinary regenerative abilities driven by pluripotent neoblasts, yet the roles of post-mitotic progenitor and differentiated cells in this process remain incompletely understood. Here, we investigate the function of agat+ cells, epidermal progenitors expressing members of the arginine:glycine amidinotransferase (agat) gene family, in the regeneration of Schmidtea mediterranea. Comprehensive analysis of all five planarian agat paralogs revealed that agat-1, -2, -3, and -4 are co-expressed in subepidermal populations enriched at wound sites, while agat-5 is minimally expressed. RNAi-mediated knockdown of agat-1 and agat-2 resulted in severe defects: agat-1 primarily disrupted tissue homeostasis, …
Inheriting Chromosome Conformation, Kyle P Eagen
Inheriting Chromosome Conformation, Kyle P Eagen
Faculty, Staff and Students Publications
No abstract provided.
Esr1 Fusions In Breast Cancer: Functions, Mechanisms And Therapeutic Opportunities, Xuxu Gou, Zoya Farooqui, Charles E Foulds
Esr1 Fusions In Breast Cancer: Functions, Mechanisms And Therapeutic Opportunities, Xuxu Gou, Zoya Farooqui, Charles E Foulds
Faculty, Staff and Students Publications
Approximately 70% of all breast cancers are driven by estrogen receptor-alpha (ERα) that binds the predominant circulating female estrogen, 17ꞵ-estradiol (E2). Because of this, drugs collectively termed “endocrine therapy (ET)” that either suppress E2 level or inhibit the activity of ERα have been used as first-line therapy. While initially effective, resistance to ET drugs occurs with subsequent lethal metastasis. The most common genetic alterations are point mutations in the ESR1 gene within the last exon encoding the ligand-binding domain (LBD), resulting in constitutively active ERα proteins. Recently, new oral selective estrogen receptor degraders (SERDs) that effectively target these point mutants …
School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Meagan C Fitzpatrick, Chad R Wells, Abhishek Pandey, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani
School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Meagan C Fitzpatrick, Chad R Wells, Abhishek Pandey, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani
Faculty, Staff and Students Publications
No abstract provided.
Therapeutic Potential Of Hookworm Proteins In Promoting Regulatory Immune Responses To Modulate Trypanosoma Cruzi Induced Liver Inflammation And Oxidative Stress, Maria Jose Villar, Cristina Poveda, Bin Zhan, Maya Gonsoulin, Kathryn M Jones
Therapeutic Potential Of Hookworm Proteins In Promoting Regulatory Immune Responses To Modulate Trypanosoma Cruzi Induced Liver Inflammation And Oxidative Stress, Maria Jose Villar, Cristina Poveda, Bin Zhan, Maya Gonsoulin, Kathryn M Jones
Faculty, Staff and Students Publications
Background: Chronic Trypanosoma cruzi infection causes significant liver pathology, and current antiparasitic treatments often worsen hepatic damage. Hookworm-derived proteins have shown immunomodulatory effects in inflammatory diseases, including T. cruzi-induced myocarditis.
Objective: This study evaluates recombinant hookworm proteins AIP-1 and AIP-2 for treating liver inflammation in a murine model of chronic Chagas disease (CD).
Methods: Female BALB/c mice infected with T. cruzi were treated with AIP-1 or AIP-2 (1 mg/kg) for seven days. Controls were untreated or received aspirin (25 mg/kg) for 14 days. Liver tissues were analyzed for parasite burden (quantitative polymerase chain reaction - qPCR), histopathology (H&E, Picrosirius Red), …
From Local Burden To Global Threat: Neglected Tropical Diseases In An Era Of Climate Change And Human Mobility, Francisco Javier Membrillo, Juan-Carlos Navarro, Diana Marcela Pava-Garzón, Jill Weatherhead, José A Suárez, Alfonso J Rodriguez-Morales
From Local Burden To Global Threat: Neglected Tropical Diseases In An Era Of Climate Change And Human Mobility, Francisco Javier Membrillo, Juan-Carlos Navarro, Diana Marcela Pava-Garzón, Jill Weatherhead, José A Suárez, Alfonso J Rodriguez-Morales
Faculty, Staff and Students Publications
No abstract provided.
Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove
Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove
Faculty, Staff and Students Publications
Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.
Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.
Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …
Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley
Investigating Food-Related Behaviors In Smith-Magenis Syndrome: Tailoring A Questionnaire For A Rare Disease, Citrine Elatrash, Theresa A Wilson, Alexis C Wood, Sarah H Elsea, Stephanie Sisley
Faculty, Staff and Students Publications
Purpose: Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine the best tool to capture their unique food-related behaviors.
Methods: We conducted focus groups with caregivers of individuals with SMS to evaluate two commonly used questionnaires for food-related behaviors- the Food Related Problems Questionnaire (FRPQ) and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT). Based on caregiver input and clinical expertise, we adapted these existing measures into a new tool: the SMS-FRPQ. We then validated this instrument for internal consistency and concurrent validity using online …
Correction: Establishing Standardized Transthoracic Echocardiography Reference Ranges For Mouse Models: Insights Into The Impact Of Anesthesia, Sex, And Age, Manuela A Oestereicher, Christopher S Ward, Elida Schneltzer, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Ghina Bou About, Mohammed Selloum, Hamid Meziane, Michelle Stewart, Lydia Teboul, Clare Norris, Dale Pimm, Marina Kan, Federico López Gómez, Robert Wilson, Mayra Monroy, Sheraz Pasha, Eva Zabrodska, Jan Prochazka, David Pajuelo Reguera, Zuzana Nichtova, Yann Herault, Sara Wells, Helen Parkinson, Jason D Heaney, Radislav Sedlacek, Xiang Gao, Martin Hrabe De Angelis, Nadine Spielmann
Correction: Establishing Standardized Transthoracic Echocardiography Reference Ranges For Mouse Models: Insights Into The Impact Of Anesthesia, Sex, And Age, Manuela A Oestereicher, Christopher S Ward, Elida Schneltzer, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Ghina Bou About, Mohammed Selloum, Hamid Meziane, Michelle Stewart, Lydia Teboul, Clare Norris, Dale Pimm, Marina Kan, Federico López Gómez, Robert Wilson, Mayra Monroy, Sheraz Pasha, Eva Zabrodska, Jan Prochazka, David Pajuelo Reguera, Zuzana Nichtova, Yann Herault, Sara Wells, Helen Parkinson, Jason D Heaney, Radislav Sedlacek, Xiang Gao, Martin Hrabe De Angelis, Nadine Spielmann
Faculty, Staff and Students Publications
This corrects the article "Establishing standardized transthoracic echocardiography reference ranges for mouse models: insights into the impact of anesthesia, sex, and age" in volume 12, 1695034.
Do Emerging Social Media Platforms Shape The Gender Gap In Surveillance Political Knowledge?, Saskia Papsova
Do Emerging Social Media Platforms Shape The Gender Gap In Surveillance Political Knowledge?, Saskia Papsova
Graduate Studies Theses and Dissertations 2026
Abstract
Research shows that men consistently score higher than women on standard political knowledge measures, but as Americans increasingly obtain political information through social media, it is unclear whether different platforms affect this gender gap. This study investigates whether social media platforms shape the gender gap in surveillance political knowledge—knowledge of current political facts and contested claims circulating in the contemporary information environment, and which platforms have the biggest impact. Using data from the ANES 2020 Social Media Study, I estimate weighted OLS regression models testing whether platform-specific usage is associated with surveillance political knowledge and whether these associations differ …
Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein
Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein
Faculty, Staff and Students Publications
Background: Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.
Objective: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.
Methods: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.
Results: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most …
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Faculty, Staff and Students Publications
Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …
Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Abhishek Lenka, Ruosha Li, Karim Makhoul, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic
Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Abhishek Lenka, Ruosha Li, Karim Makhoul, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic
Faculty, Staff and Students Publications
Background: The development of a screening tool to identify driving impairment in patients with movement disorders is an unmet need.
Objective: To validate Baylor Driving Questionnaire for Movement Disorders (BDQMD) by objective driving assessment (ODA).
Methods: In this cross-sectional study, 142 patients with various movement disorders completed the 10-item BDQMD and of those, 25 completed ODA using the driver performance analysis system (DPAS).
Results: The mean total BDQMD score for the whole cohort was 14.7 ± 5.6 (range 10-47). Patients who underwent ODA had a mean BDQMD score of 12.8 ± 2.9. Four had minimum driving skill, 20 had average, …
Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum
Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum
Faculty, Staff and Students Publications
Background: Intravenous thrombolytic (IVT) and mechanical thrombectomy (MT) therapies are the current standard of care for large vessel occlusion (LVO) stroke. Multiple studies emphasized the impact of time metrics on patient outcomes, particularly door-to-needle (DTN) and door-to-puncture (DTP) times. Tenecteplase (TNK) offers potential advantages over alteplase (ALT), including a simplified one-time bolus administration, which may reduce DTP time. Results suggest TNK is non-inferior to ALT in terms of clinical outcomes, but few large cohort studies have compared DTP time for patients receiving TNK vs. ALT prior to thrombectomy. This real-world study aimed to compare DTP times and discharge outcomes in …
Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong
Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong
Faculty, Staff and Students Publications
The Deep Brain Stimulation (DBS) Think Tank XIII was held September 2-4th, 2025, in Gainesville, Florida, at the Norman Fixel Institute for Neurological Diseases at the University of Florida. The theme was "The Evolving Landscape of DBS: New Indications, New Goals." This theme was a continuation of the DBS Think Tank XI and XII, which were focused on emerging technology and pushing the horizon of indications. Since its founding in 2012, the DBS Think Tank has provided a global forum for leading clinicians, engineers, and researchers in both in industry and academia to present, discuss, and debate the current state …