Medicine and Health Sciences Commons^™

Complexity, Coordination, And The Politics Of Global Health Emergencies: Institutions, Actors, And Responses, Jennifer M. Kerner

Political Science ETDs

This dissertation examines the politics of global health emergencies through three interconnected studies. First, it analyzes the declaration of Public Health Emergencies of International Concern (PHEICs), revealing that while World Health Organization (WHO) protocols influence decisions, political factors may also play a role. Second, a case study of the 2014 Ebola outbreak explores the complexities of international response coordination. It highlights the importance of established protocols, clear leadership, and effective communication, while also noting the challenges posed by resource constraints and inter-organizational dynamics. Third, the research investigates the impact of military involvement in global health emergencies. It reveals that military …

Diabetic Foot Ulcer Recurrence In Hispanic Americans: A Growing Concern, Daniela Lizbeth Avilez, Amanda Killeen

School of Podiatric Medicine - Student Research

Background: Diabetic foot ulcers (DFUs) represent a critical public health concern among Hispanic populations, contributing significantly to healthcare disparities and an elevated risk of amputations. Although Hispanic Americans account for 11.7% of the U.S. population with diabetes, they experience disproportionately higher rates of DFUs and amputations compared to non-Hispanic White individuals. Additionally, Hispanic adults exhibit lower rates of attempted revascularization, which exacerbates their susceptibility to severe complications. As the Hispanic population continues to grow, particularly in Texas, addressing DFU recurrence is crucial for improving clinical outcomes and reducing health inequities. This review evaluates evidence on DFU recurrence within Hispanic populations. …

Association Between High Triglyceride-Glucose Index And Macce In Hypertriglyceridemia Patients Undergoing Percutaneous Coronary Intervention, Yichuan Wang, Yanfeng Lu, Shanshan Gao, Zhong Zhong, Jasmine Bao, Bo Liu, Ruihan Fan, Ning Guo

SKMC Student Presentations and Publications

BACKGROUND: With a focus on metabolism-related cardiovascular diseases, the triglyceride-glucose (TyG) index has been used as a surrogate marker of insulin resistance in the prognosis of coronary heart disease. However, the prognostic role of the TyG index in patients with elevated triglycerides, still requires further research. This study aimed to investigate the association between the TyG index and Major Adverse Cardiac and Cerebrovascular Events (MACCE) in patients with hypertriglyceridemia undergoing drug-eluting stent percutaneous coronary intervention (DES-PCI).

METHODS: Out of 2250 patients, 813 with hypertriglyceridemia who underwent DES-PCI were retrospectively analyzed. MACCE was regarded as the primary endpoint. Kaplan-Meier (KM) curves …

The Impact Of Energy Intake And Macronutrient Distribution On Recovery Rates In Young Women With Functional Hypothalamic Amenorrhea, Hadley Day, Rebecca Lyons, Taylor Vas

Department of Nutrition Student Projects

Functional hypothalamic amenorrhea (FHA) is characterized by irregular or absent menstrual cycles due to disturbances in the hypothalamic-pituitary-ovarian (HPO) axis. Young women ages 18-25 are particularly vulnerable to FHA, which can have long-term consequences on bone health, fertility, and overall well-being. While meeting energy needs is essential for recovery, the question arises of whether different macronutrient distributions within an energy-sufficient diet influence the recovery rate. This study aims to evaluate the impact of varying macronutrient compositions on the recovery of young women with FHA. The study will be conducted using a randomized controlled trial design to examine whether diets with …

Empowering Coaches: Building A Resource Hub For Accessibility, Inclusion, And Preparedness, Emily F. Mcguckin

OTD Capstone Projects

Flip for Function is a therapeutic gymnastics and adaptive athletics organization that incorporates occupational therapy throughout to promote self-confidence and play for children with disabilities. The purpose of this doctoral capstone was to create a resource guide and kit to assist coaches in being prepared in an inclusive environment. This capstone project focused on creating a physical and electronic deliverable of gymnastics drills and strategies, and a coach’s kit. The physical deliverable contained a list of drills for various gymnastics skills on vault/trampoline, bars, beam and floor with explanations on how to complete each drill and adaptations, as well as …

04.14.2025 Ored Connect, Liz Williamson

ORED Newsletter

Updated CITI Training Courses

Science Celebration

IHL Prepayment Approval

Parenting With Peace: A Childhood Anxiety Education Program, Grace Arnold, Angela Blackwell, Teri Jetter, Msot

Spring 2025 OTD Capstone Symposium

The Parenting with Peace education program offers a comprehensive education program to parents of children with Anxiety. The program delves into the topics of self-regulation, emotional regulation, etc. The program offers parents information on each topic, information on how parenting impacts the topic, and at-home interventions that parents can engage in to help support their child. The program can help parents address the goal of improving competency about childhood anxiety symptoms and self-regulation techniques, improving their ability to engage in the occupation of caregiver.

Impact Of Hidden Populations Through Faculty Identification And Intervention In Higher Education, Jimmie K. Wetmore

Doctor of Nursing Practice Projects

College students who have endured trauma through experiences in the foster care system, homelessness, justice system involvement, poverty, violence, and/or abuse are at greater risk of not completing college and returning to the circumstances that perpetrated their initial traumas. These students are known as “hidden populations.” Mentorship and resources can help these students to break the social and economic cycles that have placed them in a high-risk category. Higher education faculty are in a unique position to help bridge the gap that exists for these students. The problem can be impacted by more faculty being aware of the population and …

Vacuum Erectile Devices For Erectile Dysfunction: Recommendations From The 5th International Consultation On Sexual Medicine, Run Wang, Francisco E Martins, David Ralph, Georgios Hatzichristodoulou, Daniar Osmonov, Justin Parker, Sung Hun Sean Park, Ignacio Moncada, Carlo Bettocchi, Ricardo Munarriz, Tobias Köhler

Faculty, Staff and Student Publications

Introduction: Vacuum erectile device (VED) is 1 of the main approved therapies for erectile dysfunction (ED). The introduction of phosphodiesterase type 5 inhibitor (PDE5i) for ED significantly changed the roles of VED in contemporary sexual medicine.

Objective: To provide updated clinical evidence to inform health care providers on best practices with VED.

Methods: A consensus panel was held with leading sexual medicine experts during the 5th International Consultation on Sexual Medicine (ICSM). Relevant peer-reviewed literature was reviewed with focus on research from the last 10 years, but not limited to the last 10 years. The expert panel generated consensus statements …

Improving Same-Day Access To Highly Effective Contraceptives In Middle Tennessee, Jillian Gunderson, Elizabeth Morse, David Phillippi

DNP Projects

Project Title: Improving Same-day Access To Highly Effective Contraceptives In Middle Tennessee

Background and Rationale: Long-acting reversible contraceptives (LARC) are highly effective at preventing pregnancy at 99%. A two-visit protocol is a known barrier to access. The American College of Obstetricians and Gynecologists recommends same-day placement to increase access to LARC. A Step Ahead Middle Tennessee (ASA) is a non-profit organization partnered with Belmont University that provides free, long-acting reversible contraceptives. However, most ASA clinical partners offer services with a two-visit protocol, and there is no process to identify patient preference for same-day placement.

Purpose: The primary purpose of this …

Food Allergies On The College Campus: Increasing Awareness, Kelly Wagner

DNP Projects

Project Title: Food Allergies on the College Campus: Increasing Awareness

Background and Rationale: The prevalence of food allergies in the United States is high and continues to increase, affecting approximately 32 million people (10.8% of the population). Food allergies are a chronic disease, and students transitioning to college are in the age group that experiences the highest rate of lethal anaphylactic reactions related to food allergies. Current best practice guidelines recommend that colleges should have a comprehensive, campus-wide approach to food allergy awareness, management, and emergency protocol. At a midsize southeastern university, there was no campus-wide approach to addressing the …

Exploring The Lived Experiences Of Menstrual Hygiene Management Among In-School Visually Impaired Adolescent Girls In Rwanda: A Phenomenological Study, Marie Laetitia Ishimwe Bazakare, Gerard Kaberuka Kaberuka, Aimable Nkurunziza, Justine Bagirisano, Godfrey Katende

School of Nursing & Midwifery, East Africa

Background In low-income countries, many menstruating persons continue to face numerous challenges regarding menstrual hygiene management. Visual impairment further compounds the difficulties faced by in-school adolescent girls, but little is known about its consequences in Rwanda. Objective To explore the lived experiences of menstrual hygiene management among in-school visually impaired adolescent girls in Rwanda. Design descriptive phenomenology. Methods This study was conducted in four specialized educational institutions for visually impaired students in Rwanda. We conducted four focus group discussions with 25 visually impaired adolescent girls selected purposively. The seven steps of Colaizzi’s method were used to analyze the data. Results …

Germline Pathogenic Drosha Variants Are Linked To Pineoblastoma And Wilms Tumor Predisposition, Peter N Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y Lin, Angshumoy Roy, Allison Pribnow, Melissa R Perrino, Julien Masliah-Planchon, Sophie Michalak-Provost, Jennifer Wong, Mathilde Filser, Dominique Stoppa-Lyonnet, Franck Bourdeaut, Afane Brahimi, Olivier Ingster, Giselle Saulnier Sholler, Sarah A Jackson, Mark M Sasaki, Trent Fowler, Anita Ng, Ryan J Corbett, Rebecca S Kaufman, Jeremy S Haley, David J Carey, Kuan-Lin Huang, Sharon J Diskin, Jo Lynne Rokita, Hussam Al-Kateb, Rose B Mcgee, Joshua D Schiffman, Kenneth S Chen, Douglas R Stewart, D Williams Parsons, Sharon E Plon, Kris Ann P Schultz, Kenan Onel

Center for Medical Ethics and Health Policy Staff Publications

Purpose: DROSHA, DGCR8, and DICER1 regulate miRNA biogenesis and are commonly mutated in cancer. Although DGCR8 and DICER1 germline pathogenic variants (GPV) cause autosomal dominant tumor predisposition, no association between DROSHA GPVs and clinical phenotypes has been reported.

Experimental design: After obtaining informed consent, sequencing was performed on germline and tumor samples from all patients. The occurrence of germline DROSHA GPVs was investigated in large pediatric and adult cancer datasets. The population prevalence of DROSHA GPVs was investigated in the UK Biobank and Geisinger DiscovEHR cohorts.

Results: We describe nine children from eight families with heterozygous DROSHA GPVs and a …

Determinants Of Neuronal Viability Following Spreading Depolarization, Michael C. Bennett

Biomedical Sciences ETDs

Spreading depolarizations (SDs) are massive, slowly propagating waves that cause near-complete neuroglial depolarization and are energetically demanding for the brain. Past studies have established SDs as key contributors to secondary injury in tissue that lacks the metabolic supply to meet the energetic burden of repolarization after SD. Efforts to identify the mechanisms that cause deleterious consequences following SD have been ongoing, with significant results showing that blocking excitotoxic levels of Ca²⁺ from entering neurons through NMDA receptors prevents detrimental outcomes. While these studies have advanced the field, other mechanisms may also contribute to the metabolic burden of SD. This …

Hexasodium Fytate (Snf472 Or Csl525) Inhibits Ectopic Calcification In Various Pseudoxanthoma Elasticum And Calcinosis Cutis Animal Models, Miguel Ferrer, Maria Pérez-Ferrer, Marc Blasco, Ida Jacobs, Qiaoli Li, Olivier Vanakker, Lisa Dangreau, Andrea López, Gianluca Malagraba, Firas Bassissi, Joan Perelló, Carolina Salcedo

Department of Biochemistry and Molecular Biology Faculty Papers

Background/Objectives: Ectopic calcification is a pathological condition characterized by the mineralization of soft tissues due to the deposition of calcium phosphate crystals. Hexasodium fytate (CSL525, previously known as SNF472) is a crystallization inhibitor being developed for the treatment of ectopic calcification-related disorders. Our aim was to investigate CSL525 for the treatment of soft-tissue calcification disorders in animal models of pseudoxanthoma elasticum and calcinosis cutis. Methods: In a first study, abcc6^-/- zebrafish larvae were exposed to 1 mM CSL525 for 7 days or kept under the same conditions without CSL525, and spinal mineralization was quantified. In a second study, abcc6 …

Leveraging Pretrained Language Models For Seizure Frequency Extraction From Epilepsy Evaluation Reports, Rashmie Abeysinghe, Shiqiang Tao, Samden D Lhatoo, Guo-Qiang Zhang, Licong Cui

Faculty, Staff and Student Publications

Seizure frequency is essential for evaluating epilepsy treatment, ensuring patient safety, and reducing risk for Sudden Unexpected Death in Epilepsy. As this information is often described in clinical narratives, this study presents an approach to extracting structured seizure frequency details from such unstructured text. We investigated two tasks: (1) extracting phrases describing seizure frequency, and (2) extracting seizure frequency attributes. For both tasks, we fine-tuned three BERT-based models (bert-large-cased, biobert-large-cased, and Bio_ClinicalBERT), as well as three generative large language models (GPT-4, GPT-3.5 Turbo, and Llama-2-70b-hf). The final structured output integrated the results from both tasks. GPT-4 attained the best performance …

Long-Read Single-Cell Rna Sequencing Enables The Study Of Cancer Subclone-Specific Genotypes And Phenotypes In Chronic Lymphocytic Leukemia, Gage S Black, Xiaomeng Huang, Yi Qiao, Philip Moos, Deepa Sampath, Deborah M Stephens, Jennifer A Woyach, Gabor T Marth

Faculty, Staff and Student Publications

Bruton tyrosine kinase (BTK) inhibitors are effective for the treatment of chronic lymphocytic leukemia (CLL) due to BTK's role in B cell survival and proliferation. Treatment resistance is most commonly caused by the emergence of the hallmark BTKC481S mutation that inhibits drug binding. In this study, we aimed to investigate cancer subclones harboring a BTKC481S mutation and identify cells with co-occurring CLL driver mutations. In addition, we sought to determine whether BTK-mutated subclones exhibit distinct transcriptomic behavior when compared to other cancer subclones. To achieve these goals, we use scBayes, which integrates bulk DNA sequencing and single-cell …

Results Of The Phase I/Ii Study And Preliminary B-Cell Gene Signature Of Combined Inhibition Of Glutamine Metabolism And Egfr In Colorectal Cancer, Kristen K Ciombor, Seong-Woo Bae, Jennifer G Whisenant, Gregory D Ayers, Quanhu Sheng, Todd E Peterson, Gary T Smith, Kangyu Lin, Saikat Chowdhury, Preeti Kanikarla Marie, Alexey Sorokin, Allison S Cohen, Laura W Goff, Dana B Cardin, John Paul Shen, Scott Kopetz, Cathy Eng, Yu Shyr, Jordan Berlin, H Charles Manning

Faculty, Staff and Student Publications

Purpose: EGFR-targeting mAbs are essential for managing rat sarcoma virus wild-type metastatic colorectal cancer (mCRC), but their limited efficacy necessitates exploring immunologic and metabolic factors influencing response. This study evaluated glutamine metabolism targeting with EGFR inhibition to identify response biomarkers in patients with prior anti-EGFR treatment progression.

Patients and methods: We conducted a phase I/II trial in patients with KRAS wild-type mCRC, combining panitumumab (6 mg/kg) and CB-839 (600 mg/kg or 800 mg/kg), hypothesizing that the dual inhibition of glutamine metabolism and MAPK signaling would enhance outcomes. As study correlatives, we investigated the B-cell activation signature "B-score" and glutamine PET …

Naloxone: A Lifesaving Tool Against Opioid Overdose, Aaron Hunt, Gabriela Murza, Amy May, Jenna Hawks, Alyssa Ferrin

All Current Publications

Naloxone is a medicine that can temporarily stop an opioid overdose by blocking the effects of opioids on the brain, which can save a person's life. This fact sheet explains why naloxone is important and safe, how to recognize the signs of opioid overdose, and how to obtain, store, and administer naloxone. Naloxone training is also available through Utah State University Extension.

Diagnosis And Management Of Esophageal Perforation With Necrotizing Fasciitis In Traumatic Cervical Spine Injuries: Illustrative Case, Arman Kavoussi, Ashley Ricciardelli, Alex Flores, Alexander Brenner, Nelson Eddie Liou, Alexander E Ropper, Cyrus King

Faculty, Staff and Students Publications

Background: Esophageal perforation is a rare but deadly complication of cervical spine fractures. Early identification can be difficult but is imperative for proper treatment and prevention of life-threatening infection. Once diagnosed, surgical drainage and broad-spectrum antibiotics can yield positive outcomes. The authors present a successfully managed case of cervical spine fracture with associated esophageal perforation and necrotizing fasciitis as well as an extensive literature review.

Observations: An 87-year-old male with a previous cervical laminectomy presented to the emergency department with shortness of breath after a ground-level fall. Initial CT imaging of the cervical spine was noted to have no abnormalities …

Update On Cancer And Central Nervous System Tumor Surveillance In Pediatric Nf2-, Smarcb1-, And Lztr1-Related Schwannomatosis, Melissa R Perrino, Marjolijn C J Jongmans, Gail E Tomlinson, Mary-Louise C Greer, Sarah R Scollon, Sarah G Mitchell, Jordan R Hansford, Kris Ann P Schultz, Wendy K Kohlmann, Jennifer M Kalish, Suzanne P Macfarland, Anirban Das, Kara N Maxwell, Stefan M Pfister, Rosanna Weksberg, Orli Michaeli, Uri Tabori, Gina M Ney, Philip J Lupo, Jack J Brzezinski, Douglas R Stewart, Emma R Woodward, Christian P Kratz

Faculty, Staff and Students Publications

Schwannomatosis (SWN) is a distinct cancer predisposition syndrome caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is a significant clinical overlap between these syndromes with the hallmark of increased risk for cranial, spinal, and peripheral schwannomas. Neurofibromatosis type 2 was recently renamed as NF2-related SWN and is the most common SWN syndrome, with increased risk for bilateral vestibular schwannomas, intradermal schwannomas, meningiomas, and less commonly, ependymoma. SMARCB1-related SWN is a familial SWN syndrome associated with peripheral and spinal schwannomas and an increased risk for meningiomas and malignant peripheral nerve sheath tumors, even in the absence …

Surgical Mitral Valve Repair Vs Replacement After Failed Mitral Transcatheter Edge-To-Edge Repair: The Cutting-Edge Registry., Mateo Marin-Cuartas, Jagdip Kang, Thilo Noack, Manuela De La Cuesta, Markus Krane, Volkmar Falk, Lenard Conradi, Christian Hagl, Maurizio Taramasso, Tom C Nguyen, D Scott Lim, Gorav Ailawadi, Michael J Mack, Robert L Smith, Anita W Asgar, Kendra J Grubb, Luigi Pirelli, Paolo Denti, Thomas Modine, Michael J Reardon, Tamim M Nazif, Vinayak N Bapat, Tsuyoshi Kaneko, Philipp Kiefer, Michael A Borger, Gilbert H L Tang, Syed Zaid

Faculty, Staff and Students Publications

Background: The impact of mitral valve (MV) surgery type after failed mitral transcatheter edge-to-edge repair (M-TEER) has not been well studied.

Objectives: The aim of this study was to compare the outcomes of MV repair vs replacement after failed M-TEER.

Methods: From 2009 to 2020, a total of 332 patients across 34 centers from the CUTTING-EDGE registry underwent MV surgery after M-TEER. Outcomes were compared between MV repair and replacement. Primary outcomes included 30-day mortality and 1-year survival after MV surgery.

Results: Among enrolled patients (mean age 73.8 ± 10.1 years, median Society of Thoracic Surgeons Predicted Risk of Mortality …

H3.1k27m-Induced Misregulation Of The Tonsoku-H3.1 Pathway Causes Genomic Instability, Wenxin Yuan, Yi-Chun Huang, Chantal Leblanc, Axel Poulet, Francisca N De Luna Vitorino, Devisree Valsakumar, Renee Dean, Benjamin A Garcia, Josien C Van Wolfswinkel, Philipp Voigt, Yannick Jacob

2020-Current year OA Pubs

The oncomutation lysine 27-to-methionine in histone H3 (H3K27M) is frequently identified in tumors of patients with diffuse midline glioma-H3K27 altered (DMG-H3K27a). H3K27M inhibits the deposition of the histone mark H3K27me3, which affects the maintenance of transcriptional programs and cell identity. Cells expressing H3K27M are also characterized by defects in genome integrity, but the mechanisms linking expression of the oncohistone to DNA damage remain mostly unknown. In this study, we demonstrate that expression of H3.1K27M in the model plant Arabidopsis thaliana interferes with post-replicative chromatin maturation mediated by the H3.1K27 methyltransferases ATXR5 and ATXR6. As a result, H3.1 variants on nascent …

A Hitchhiker’S Guide To Long-Read Genomic Analysis, Medhat Mahmoud, Daniel P Agustinho, Fritz J Sedlazeck

Faculty, Staff and Students Publications

Over the past decade, long-read sequencing has evolved into a pivotal technology for uncovering the hidden and complex regions of the genome. Significant cost efficiency, scalability, and accuracy advancements have driven this evolution. Concurrently, novel analytical methods have emerged to harness the full potential of long reads. These advancements have enabled milestones such as the first fully completed human genome, enhanced identification and understanding of complex genomic variants, and deeper insights into the interplay between epigenetics and genomic variation. This mini-review provides a comprehensive overview of the latest developments in long-read DNA sequencing analysis, encompassing reference-based and de novo assembly …

Unraveling The Hidden Complexity Of Cancer Through Long-Read Sequencing, Qiuhui Li, Ayse G Keskus, Justin Wagner, Michal B Izydorczyk, Winston Timp, Fritz J Sedlazeck, Alison P Klein, Justin M Zook, Mikhail Kolmogorov, Michael C Schatz

Faculty, Staff and Students Publications

Cancer is fundamentally a disease of the genome, characterized by extensive genomic, transcriptomic, and epigenomic alterations. Most current studies predominantly use short-read sequencing, gene panels, or microarrays to explore these alterations; however, these technologies can systematically miss or misrepresent certain types of alterations, especially structural variants, complex rearrangements, and alterations within repetitive regions. Long-read sequencing is rapidly emerging as a transformative technology for cancer research by providing a comprehensive view across the genome, transcriptome, and epigenome, including the ability to detect alterations that previous technologies have overlooked. In this Perspective, we explore the current applications of long-read sequencing for both …

Proteogenomic Characterization Of Non-Functional Pancreatic Neuroendocrine Tumors Unravels Clinically Relevant Subgroups, Shunrong Ji, Lihua Cao, Jing Gao, Yang Du, Zeng Ye, Xin Lou, Fen Liu, Yehan Zhang, Junfeng Xu, Xiaohan Shi, Huan Wang, Penghao Li, Yikai Li, Hongxu Chen, Zhicheng Yang, Suizhi Gao, Wuhu Zhang, Dan Huang, Shujuan Ni, Miaoyan Wei, Fei Wang, Yan Wang, Tian Ding, Desheng Jing, Guixiong Fan, Zhiyun Gong, Renquan Lu, Yi Qin, Jie Chen, Xiaowu Xu, Pei Wang, Bing Zhang, Li Ding, Ana I Robles, Henry Rodriguez, David K Chang, Ralph H Hruban, Dong Gao, Daming Gao, Gang Jin, Hu Zhou, Jianmin Wu, Xianjun Yu

Faculty, Staff and Students Publications

The majority of neuroendocrine neoplasms in pancreas are non-functional pancreatic neuroendocrine tumors (NF-PanNETs), which exhibit a high occurrence of distant metastases with limited therapeutic options. Here, we perform a comprehensive molecular characterization of 108 NF-PanNETs through integrative analysis of genomic, transcriptomic, proteomic, and phosphoproteomic profiles. Proteogenomic analysis provides functional insights into the genomic driver alterations of NF-PanNETs, revealing a potential mediator of MEN1 alterations using Men1-conditional knockout mice. Machine-learning-based modeling uncovers a three-protein signature as an independent prognostic factor, which is validated by an independent external cohort. Proteomic and phosphoproteomic-based stratification identifies four subtypes with distinct molecular characteristics, immune microenvironments, …

Integrating Short-Read And Long-Read Single-Cell Rna Sequencing For Comprehensive Transcriptome Profiling In Mouse Retina, Meng Wang, Yumei Li, Jun Wang, Soo Hwan Oh, Yexuan Cao, Rui Chen

Faculty, Staff and Students Publications

The vast majority of protein-coding genes in the human genome produce multiple mRNA isoforms through alternative splicing, significantly enhancing the complexity of the transcriptome and proteome. To establish an efficient method for characterizing transcript isoforms within tissue samples, we conducted a systematic comparison between single-cell long-read and conventional short-read RNA sequencing techniques. The transcriptome of approximately 30,000 mouse retina cells was profiled using 1.54 billion Illumina short reads and 1.40 billion Oxford Nanopore Technologies long reads. Consequently, we identify 44,325 transcript isoforms, with a notable 38% previously uncharacterized and 17% expressed exclusively in distinct cellular subclasses. We observe that long-read …

Virtual Reality Respiratory Biofeedback In An Outpatient Pediatric Pain Rehabilitation Program: Mixed Methods Pilot Study, Kristin Recker, Julia Silliman, Karolina Gifford, Parth Patel, Lisgelia Santana, Aimee K. Hildenbrand, Shreela Palit, Rachel Wasserman

Department of Pediatrics Faculty Papers

BACKGROUND: Chronic pain in adolescents is a significant and growing concern, as it can have negative implications on physical and psychosocial development. Management can be complicated by the increasing risks associated with opioid misuse, highlighting the need for effective nonpharmacological interventions. Biofeedback is an empirically supported behavioral intervention for chronic pain that targets the self-regulation of physiological responses. Virtual reality (VR) is a novel delivery method for biofeedback that could serve as an engaging and effective platform for adolescents.

OBJECTIVE: The goal of this study was to assess the feasibility, acceptability, and preliminary effectiveness of integrating a VR-delivered respiratory biofeedback …

Somatodendritic Orientation Determines Tdcs-Induced Neuromodulation Of Purkinje Cell Activity In Awake Mice, Carlos A Sánchez-León, Guillermo Sánchez-Garrido Campos, Marta Fernández, Álvaro Sánchez-López, Javier F Medina, Javier Márquez-Ruiz

Faculty, Staff and Students Publications

Transcranial direct-current stimulation (tDCS) of the cerebellum is a promising non-invasive neuromodulatory technique being proposed for the treatment of neurological and neuropsychiatric disorders. However, there is a lack of knowledge about how externally applied currents affect neuronal spiking activity in cerebellar circuits in vivo. We investigated how Cb-tDCS affects the firing rate of Purkinje cells (PC) and non-PC in the mouse cerebellar cortex to understand the underlying mechanisms behind the polarity-dependent modulation of neuronal activity induced by tDCS. Mice (n=9) were prepared for the chronic recording of local field potentials (LFPs) to assess the actual electric field gradient imposed by …

Closing The Gaps, And Improving Somatic Structural Variant Analysis And Benchmarking Using Chm13-T2t, Luis F Paulin, Jeremy Fan, Kieran O'Neill, Erin Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck

Faculty, Staff and Students Publications

The complexities of cancer genomes are becoming more easily interpreted due to advancements in sequencing technologies and improved bioinformatic analysis. Structural variants (SVs) represent an important subset of somatic events in tumors. While the detection of SVs has been markedly improved by the development of long-read sequencing, somatic variant identification and annotation remain challenging. We hypothesized that the use of a completed human reference genome (CHM13-T2T) would improve somatic SV calling. Our findings in a tumor-normal matched benchmark sample and three patient samples show that the CHM13-T2T improves SV detection accuracy compared to GRCh38 with a notable reduction in false-positive …