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Advocacy Connection Team-Now Educational Program For Headache Fellows And Patients/Caregivers: Assessment Of Educational Objectives, Courtney Seebadri-White, Hsiangkuo Yuan, William B. Young, Karissa N. Arca Mar 2024

Advocacy Connection Team-Now Educational Program For Headache Fellows And Patients/Caregivers: Assessment Of Educational Objectives, Courtney Seebadri-White, Hsiangkuo Yuan, William B. Young, Karissa N. Arca

Department of Neurology Faculty Papers

OBJECTIVE: To assess for improvement in comfort in participating in advocacy for migraine and headache disorders and knowledge needed for successful advocacy.

BACKGROUND: The Advocacy Connection Team (ACT)-Now program is an educational program offered through Miles for Migraine, a non-profit advocacy organization. It is designed to teach headache fellows and patients advocacy skills.

METHODS: In a cross-sectional pre-test-post-test design, the 2021 ACT-Now cohort of 98 participants were administered a set of 11 pre-course survey questions identifying their role (healthcare provider/headache fellow or patient/caregiver), baseline knowledge of migraine-related disability and stigma, and baseline engagement and comfort with advocating. The post-course survey …


Advancing Primary Ciliary Dyskinesia Diagnosis Through High-Speed Video Microscopy Analysis, Wilfredo De Jesús-Rojas, Zachary J Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M Quiñones, Marcos J Ramos-Benitez, Ricardo A Mosquera Mar 2024

Advancing Primary Ciliary Dyskinesia Diagnosis Through High-Speed Video Microscopy Analysis, Wilfredo De Jesús-Rojas, Zachary J Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M Quiñones, Marcos J Ramos-Benitez, Ricardo A Mosquera

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency …


Aorto-Superior Vena Cava Fistula Secondary To Ascending Aortic Dissection, Talal Al-Assil, Aiden Michael Van Loo, Bakri Kaakeh, Bashar Al Jayyousi, Rania Esteitie Mar 2024

Aorto-Superior Vena Cava Fistula Secondary To Ascending Aortic Dissection, Talal Al-Assil, Aiden Michael Van Loo, Bakri Kaakeh, Bashar Al Jayyousi, Rania Esteitie

Journal of Shock and Hemodynamics

Aortic fistulas are a rare condition that can be fatal if not detected early. They can occur spontaneously or after trauma or vascular procedures. The most common aortic fistulas occur with the esophagus, intestines, atrium, and bronchi. Aorto-superior vena cava (SVC) fistulas are exceedingly rare finding. We present a patient with a dissected aortic pseudoaneurysm complicated by an aorto-SVC fistula, leading to left-to-right shunting. This caused increased pulmonary blood flow, left ventricular volume overload, and eventual high-output heart failure. This is a unique case of an aorto-SVC fistula as a complication of subacute/chronic ascending aortic dissection in a patient who …


Mapping Sca1 Regional Vulnerabilities Reveals Neural And Skeletal Muscle Contributions To Disease, Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Yun You, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Orr Mar 2024

Mapping Sca1 Regional Vulnerabilities Reveals Neural And Skeletal Muscle Contributions To Disease, Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Yun You, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Orr

Duncan NRI Faculty and Staff Publications

Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ataxin-1 (ATXN1) protein. To elucidate anatomical regions and cell types that underlie mutant ATXN1-induced disease phenotypes, we developed a floxed conditional knockin mouse (f-ATXN1146Q/2Q) with mouse Atxn1 coding exons replaced by human ATXN1 exons encoding 146 glutamines. f-ATXN1146Q/2Q mice manifested SCA1-like phenotypes including motor and cognitive deficits, wasting, and decreased survival. Central nervous system (CNS) contributions to disease were revealed using f-ATXN1146Q/2Q;Nestin-Cre mice, which showed improved rotarod, open field, and Barnes maze performance by 6-12 weeks of age. In contrast, …


Tumor Treating Fields Suppress Tumor Cell Growth And Neurologic Decline In Models Of Spinal Metastases, Daniel Ledbetter, Romulo Augusto Andrade De Almeida, Xizi Wu, Ariel Naveh, Chirag B Patel, Queena Gonzalez, Thomas H Beckham, Robert North, Laurence Rhines, Jing Li, Amol Ghia, David Aten, Claudio Tatsui, Christopher Alvarez-Breckenridge Mar 2024

Tumor Treating Fields Suppress Tumor Cell Growth And Neurologic Decline In Models Of Spinal Metastases, Daniel Ledbetter, Romulo Augusto Andrade De Almeida, Xizi Wu, Ariel Naveh, Chirag B Patel, Queena Gonzalez, Thomas H Beckham, Robert North, Laurence Rhines, Jing Li, Amol Ghia, David Aten, Claudio Tatsui, Christopher Alvarez-Breckenridge

Faculty, Staff and Student Publications

Spinal metastases can result in severe neurologic compromise and decreased overall survival. Despite treatment advances, local disease progression is frequent, highlighting the need for novel therapies. Tumor treating fields (TTFields) impair tumor cell replication and are influenced by properties of surrounding tissue. We hypothesized that bone's dielectric properties will enhance TTFields-mediated suppression of tumor growth in spinal metastasis models. Computational modeling of TTFields intensity was performed following surgical resection of a spinal metastasis and demonstrated enhanced TTFields intensity within the resected vertebral body. Additionally, luciferase-tagged human KRIB osteosarcoma and A549 lung adenocarcinoma cell lines were cultured in demineralized bone grafts …


Epigenetic Modulators Link Mitochondrial Redox Homeostasis To Cardiac Function In A Sex-Dependent Manner, Zaher Elbeck, Mohammad Bakhtiar Hossain, Humam Siga, Nikolay Oskolkov, Fredrik Karlsson, Julia Lindgren, Anna Walentinsson, Dominique Koppenhöfer, Rebecca Jarvis, Roland Bürli, Tanguy Jamier, Elske Franssen, Mike Firth, Andrea Degasperi, Claus Bendtsen, Robert I Menzies, Katrin Streckfuss-Bömeke, Michael Kohlhaas, Alexander G Nickel, Lars H Lund, Christoph Maack, Ákos Végvári, Christer Betsholtz Mar 2024

Epigenetic Modulators Link Mitochondrial Redox Homeostasis To Cardiac Function In A Sex-Dependent Manner, Zaher Elbeck, Mohammad Bakhtiar Hossain, Humam Siga, Nikolay Oskolkov, Fredrik Karlsson, Julia Lindgren, Anna Walentinsson, Dominique Koppenhöfer, Rebecca Jarvis, Roland Bürli, Tanguy Jamier, Elske Franssen, Mike Firth, Andrea Degasperi, Claus Bendtsen, Robert I Menzies, Katrin Streckfuss-Bömeke, Michael Kohlhaas, Alexander G Nickel, Lars H Lund, Christoph Maack, Ákos Végvári, Christer Betsholtz

Faculty, Staff and Student Publications

While excessive production of reactive oxygen species (ROS) is a characteristic hallmark of numerous diseases, clinical approaches that ameliorate oxidative stress have been unsuccessful. Here, utilizing multi-omics, we demonstrate that in cardiomyocytes, mitochondrial isocitrate dehydrogenase (IDH2) constitutes a major antioxidative defense mechanism. Paradoxically reduced expression of IDH2 associated with ventricular eccentric hypertrophy is counterbalanced by an increase in the enzyme activity. We unveil redox-dependent sex dimorphism, and extensive mutual regulation of the antioxidative activities of IDH2 and NRF2 by a feedforward network that involves 2-oxoglutarate and L-2-hydroxyglutarate and mediated in part through unconventional hydroxy-methylation of cytosine residues present in introns. …


Establishing The First Student-Run Clinic To Provide Free Health Care To A South Texas Colonia, John Nicholas Cauba, Andrew B. Callan, Beatriz Tapia Mar 2024

Establishing The First Student-Run Clinic To Provide Free Health Care To A South Texas Colonia, John Nicholas Cauba, Andrew B. Callan, Beatriz Tapia

Research Symposium

Purpose: The purpose of the University of Texas Rio Grande Valley School of Medicine Student Run Clinic is to bridge the healthcare gap in the local colonias by providing excellent, compassionate primary care to all who enter our doors, free of charge. We also work to connect our patients to low-cost, high-quality services in the area like women’s health visits, appointments with social workers, and dental services. Additionally, we offer medical students’ opportunities from their first year to serve an underserved population and get hands-on experience with patients.

Many patients in colonias face challenges like limited transportation options and a …


Three-Dimensional Optothermal Manipulation Of Light-Absorbing Particles In Phase-Change Gel Media, Pavana Siddhartha Kollipara, Zilong Wu, Kan Yao, Dongdong Lin, Zhengyu Ju, Xiaotian Zhang, Taizhi Jiang, Hongru Ding, Jie Fang, Jingang Li, Brian A Korgel, Joan M Redwing, Guihua Yu, Yuebing Zheng Mar 2024

Three-Dimensional Optothermal Manipulation Of Light-Absorbing Particles In Phase-Change Gel Media, Pavana Siddhartha Kollipara, Zilong Wu, Kan Yao, Dongdong Lin, Zhengyu Ju, Xiaotian Zhang, Taizhi Jiang, Hongru Ding, Jie Fang, Jingang Li, Brian A Korgel, Joan M Redwing, Guihua Yu, Yuebing Zheng

Faculty, Staff and Student Publications

Rational manipulation and assembly of discrete colloidal particles into architected superstructures have enabled several applications in materials science and nanotechnology. Optical manipulation techniques, typically operated in fluid media, facilitate the precise arrangement of colloidal particles into superstructures by using focused laser beams. However, as the optical energy is turned off, the inherent Brownian motion of the particles in fluid media impedes the retention and reconfiguration of such superstructures. Overcoming this fundamental limitation, we present on-demand, three-dimensional (3D) optical manipulation of colloidal particles in a phase-change solid medium made of surfactant bilayers. Unlike liquid crystal media, the lack of fluid flow …


Network Of Epistatic Interactions In An Enzyme Active Site Revealed By Large-Scale Deep Mutational Scanning, Allison Judge, Banumathi Sankaran, Liya Hu, Murugesan Palaniappan, André Birgy, B V Venkataram Prasad, Timothy Palzkill Mar 2024

Network Of Epistatic Interactions In An Enzyme Active Site Revealed By Large-Scale Deep Mutational Scanning, Allison Judge, Banumathi Sankaran, Liya Hu, Murugesan Palaniappan, André Birgy, B V Venkataram Prasad, Timothy Palzkill

Faculty, Staff and Students Publications

Cooperative interactions between amino acids are critical for protein function. A genetic reflection of cooperativity is epistasis, which is when a change in the amino acid at one position changes the sequence requirements at another position. To assess epistasis within an enzyme active site, we utilized CTX-M β-lactamase as a model system. CTX-M hydrolyzes β-lactam antibiotics to provide antibiotic resistance, allowing a simple functional selection for rapid sorting of modified enzymes. We created all pairwise mutations across 17 active site positions in the β-lactamase enzyme and quantitated the function of variants against two β-lactam antibiotics using next-generation sequencing. Context-dependent sequence …


Remodeling Anaplastic Thyroid Cancer's Aggressive Profile And Metabolic Signature By Natural Alkaloid Berberine, Tara Elizabeth Jarboe Mar 2024

Remodeling Anaplastic Thyroid Cancer's Aggressive Profile And Metabolic Signature By Natural Alkaloid Berberine, Tara Elizabeth Jarboe

NYMC Student Theses and Dissertations

Anaplastic thyroid cancer is a rare, fatal cancer with a five-year survival of 4%. Universally diagnosed at stage IV, anaplastic thyroid cancer is characterized by its lack of differentiation, rapid proliferative rate, highly inflammatory tumor microenvironment, and metabolic dysregulation. Refractory to all established therapies, anaplastic thyroid cancer requires a novel therapeutic approach that targets all of these drivers of anaplastic thyroid cancer carcinogenesis. We propose natural alkaloid berberine as a therapeutic with multitarget efficacy to alter mitochondrial metabolism and reprogram anaplastic thyroid cancer’s aggressive phenotype. Our in vitro model uses monocyte cell line U937, anaplastic thyroid cancer cell lines T238 …


Most Recent Advances And Applications Of Extracellular Vesicles In Tackling Neurological Challenges, Mandeep Kaur, Salvatore Fusco, Bram Van Den Broek, Jaya Aseervatham, Abdolmohamad Rostami, Lorraine Iacovitti, Claudio Grassi, Barbara Lukomska, Amit K. Srivastava Mar 2024

Most Recent Advances And Applications Of Extracellular Vesicles In Tackling Neurological Challenges, Mandeep Kaur, Salvatore Fusco, Bram Van Den Broek, Jaya Aseervatham, Abdolmohamad Rostami, Lorraine Iacovitti, Claudio Grassi, Barbara Lukomska, Amit K. Srivastava

Cardeza Foundation for Hematologic Research

Over the past few decades, there has been a notable increase in the global burden of central nervous system (CNS) diseases. Despite advances in technology and therapeutic options, neurological and neurodegenerative disorders persist as significant challenges in treatment and cure. Recently, there has been a remarkable surge of interest in extracellular vesicles (EVs) as pivotal mediators of intercellular communication. As carriers of molecular cargo, EVs demonstrate the ability to traverse the blood-brain barrier, enabling bidirectional communication. As a result, they have garnered attention as potential biomarkers and therapeutic agents, whether in their natural form or after being engineered for use …


What Do Cervical Cancer Patients Know, How Do They Learn, And Who Do They Tell? A Pilot Study, Sharon Larson, Brian Mcanany, Ilene Ladd, Radhika Gogoi Mar 2024

What Do Cervical Cancer Patients Know, How Do They Learn, And Who Do They Tell? A Pilot Study, Sharon Larson, Brian Mcanany, Ilene Ladd, Radhika Gogoi

College of Population Health Faculty Papers

BACKGROUND: This study explored what patients identified with cervical cancer know about the link between human papillomavirus (HPV) and cervical cancer and where they learned this information. Patients share a great deal of information with family, friends and colleagues and we were interested in the accuracy and sources of information they are sharing.

METHODS: Patients identified through the EHR of a health system who had a history of cervical cancer were invited to participate in a brief survey of their experience. The sample represents an opportunity sample of patients who responded.

RESULTS: Generally, these patients, drawn from the Geisinger Health …


Fungi Of The Order Mucorales Express A “Sealing-Only” Trna Ligase, Khondakar Sayef Ahammed, Ambro Van Hoof Mar 2024

Fungi Of The Order Mucorales Express A “Sealing-Only” Trna Ligase, Khondakar Sayef Ahammed, Ambro Van Hoof

Faculty, Staff and Student Publications

Some eukaryotic pre-tRNAs contain an intron that is removed by a dedicated set of enzymes. Intron-containing pre-tRNAs are cleaved by tRNA splicing endonuclease, followed by ligation of the two exons and release of the intron. Fungi use a "heal and seal" pathway that requires three distinct catalytic domains of the tRNA ligase enzyme, Trl1. In contrast, humans use a "direct ligation" pathway carried out by RTCB, an enzyme completely unrelated to Trl1. Because of these mechanistic differences, Trl1 has been proposed as a promising drug target for fungal infections. To validate Trl1 as a broad-spectrum drug target, we show that …


Ultrasound Biomicroscopy As A Novel, Potential Modality To Evaluate Anterior Segment Ophthalmic Structures During Spaceflight: An Analysis Of Current Technology, Benjamin Soares, Joshua Ong, Daniela Osteicoechea, Cihan Mehmet Kadipasaoglu, Ethan Waisberg, Prithul Sarker, Nasif Zaman, Alireza Tavakkoli, Gianmarco Vizzeri, Andrew G Lee Mar 2024

Ultrasound Biomicroscopy As A Novel, Potential Modality To Evaluate Anterior Segment Ophthalmic Structures During Spaceflight: An Analysis Of Current Technology, Benjamin Soares, Joshua Ong, Daniela Osteicoechea, Cihan Mehmet Kadipasaoglu, Ethan Waisberg, Prithul Sarker, Nasif Zaman, Alireza Tavakkoli, Gianmarco Vizzeri, Andrew G Lee

Faculty, Staff and Student Publications

Ocular health is currently a major concern for astronauts on current and future long-duration spaceflight missions. Spaceflight-associated neuro-ocular syndrome (SANS) is a collection of ophthalmic and neurologic findings that is one potential physiologic barrier to interplanetary spaceflight. Since its initial report in 2011, our understanding of SANS has advanced considerably, with a primary focus on posterior ocular imaging including fundus photography and optical coherence tomography. However, there may be changes to the anterior segment that have not been identified. Additional concerns to ocular health in space include corneal damage and radiation-induced cataract formation. Given these concerns, precision anterior segment imaging …


Evidence-Based Practice For Terminal Extubation: A Guideline Development For Critical Care, Heather Marica Mar 2024

Evidence-Based Practice For Terminal Extubation: A Guideline Development For Critical Care, Heather Marica

Student Scholarly Projects

Practice Problem: In the critical care unit it was identified that providers utilized various practices in managing patients who were to be terminally extubated (TE). The variations in TE practice resulted in healthcare providers engaging in the TE process feeling unsure of the care they were providing and questioning if best practice measures were being implemented.

PICOT: The PICOT question guiding this project was: “In acute care adult patients who are to be TE (P), how does the development of an evidence-based TE guideline (I) compared to current TE practices (C) improve critical care healthcare workers perception and ability to …


Automatic Active Lesion Tracking In Multiple Sclerosis Using Unsupervised Machine Learning, Jason Uwaeze, Ponnada A Narayana, Arash Kamali, Vladimir Braverman, Michael A Jacobs, Alireza Akhbardeh Mar 2024

Automatic Active Lesion Tracking In Multiple Sclerosis Using Unsupervised Machine Learning, Jason Uwaeze, Ponnada A Narayana, Arash Kamali, Vladimir Braverman, Michael A Jacobs, Alireza Akhbardeh

Faculty, Staff and Student Publications

BACKGROUND: Identifying active lesions in magnetic resonance imaging (MRI) is crucial for the diagnosis and treatment planning of multiple sclerosis (MS). Active lesions on MRI are identified following the administration of Gadolinium-based contrast agents (GBCAs). However, recent studies have reported that repeated administration of GBCA results in the accumulation of Gd in tissues. In addition, GBCA administration increases health care costs. Thus, reducing or eliminating GBCA administration for active lesion detection is important for improved patient safety and reduced healthcare costs. Current state-of-the-art methods for identifying active lesions in brain MRI without GBCA administration utilize data-intensive deep learning methods.

OBJECTIVE: …


Downregulation Of Irf8 In Alveolar Macrophages By G-Csf Promotes Metastatic Tumor Progression, Stephanie L Tzetzo, Elliot D Kramer, Hemn Mohammadpour, Minhyung Kim, Spencer R Rosario, Han Yu, Melissa R Dolan, Chetan C Oturkar, Brian G Morreale, Paul N Bogner, Aimee B Stablewski, Fernando J Benavides, Craig M Brackett, John M L Ebos, Gokul M Das, Mateusz Opyrchal, Michael J Nemeth, Sharon S Evans, Scott I Abrams Mar 2024

Downregulation Of Irf8 In Alveolar Macrophages By G-Csf Promotes Metastatic Tumor Progression, Stephanie L Tzetzo, Elliot D Kramer, Hemn Mohammadpour, Minhyung Kim, Spencer R Rosario, Han Yu, Melissa R Dolan, Chetan C Oturkar, Brian G Morreale, Paul N Bogner, Aimee B Stablewski, Fernando J Benavides, Craig M Brackett, John M L Ebos, Gokul M Das, Mateusz Opyrchal, Michael J Nemeth, Sharon S Evans, Scott I Abrams

Faculty, Staff and Student Publications

Tissue-resident macrophages (TRMs) are abundant immune cells within pre-metastatic sites, yet their functional contributions to metastasis remain incompletely understood. Here, we show that alveolar macrophages (AMs), the main TRMs of the lung, are susceptible to downregulation of the immune stimulatory transcription factor IRF8, impairing anti-metastatic activity in models of metastatic breast cancer. G-CSF is a key tumor-associated factor (TAF) that acts upon AMs to reduce IRF8 levels and facilitate metastasis. Translational relevance of IRF8 downregulation was observed among macrophage precursors in breast cancer and a


Toward Clinical-Grade Evaluation Of Large Language Models, Amy C Moreno, Danielle S Bitterman Mar 2024

Toward Clinical-Grade Evaluation Of Large Language Models, Amy C Moreno, Danielle S Bitterman

Faculty, Staff and Student Publications

No abstract provided.


Phase I Study Of Oric-101, A Glucocorticoid Receptor Antagonist, In Combination With Enzalutamide In Patients With Metastatic Castration-Resistant Prostate Cancer Progressing On Enzalutamide, Wassim Abida, Andrew W Hahn, Neal Shore, Neeraj Agarwal, Paul Sieber, Matthew R Smith, Tanya Dorff, Paul Monk, Matthew Rettig, Rupal Patel, Anne Page, Maureen Duff, Rongda Xu, Jian Wang, Shravani Barkund, Aleksandr Pankov, Amber Wang, Melissa R Junttila, Pratik S Multani, Anneleen Daemen, Edna Chow Maneval, Christopher J Logothetis, Michael J Morris Mar 2024

Phase I Study Of Oric-101, A Glucocorticoid Receptor Antagonist, In Combination With Enzalutamide In Patients With Metastatic Castration-Resistant Prostate Cancer Progressing On Enzalutamide, Wassim Abida, Andrew W Hahn, Neal Shore, Neeraj Agarwal, Paul Sieber, Matthew R Smith, Tanya Dorff, Paul Monk, Matthew Rettig, Rupal Patel, Anne Page, Maureen Duff, Rongda Xu, Jian Wang, Shravani Barkund, Aleksandr Pankov, Amber Wang, Melissa R Junttila, Pratik S Multani, Anneleen Daemen, Edna Chow Maneval, Christopher J Logothetis, Michael J Morris

Faculty, Staff and Student Publications

Purpose: Increased glucocorticoid receptor (GR) signaling is a proposed compensatory mechanism of resistance to androgen receptor (AR) inhibition in metastatic castration-resistant prostate cancer (mCRPC). ORIC-101 is a potent and selective orally-bioavailable GR antagonist.

Patients and methods: Safety, pharmacokinetic/pharmacodynamic, and antitumor activity of ORIC-101 in combination with enzalutamide were studied in patients with mCRPC progressing on enzalutamide. ORIC-101 doses ranging from 80 to 240 mg once daily were tested in combination with enzalutamide 160 mg once daily. Pharmacokinetics/pharmacodynamics was assessed after a single dose and at steady state. Disease control rate (DCR) at 12 weeks was evaluated at the recommended phase …


Β-Actin G342d As A Cause Of Nk Cell Deficiency Impairing Lytic Synapse Termination, Abigail E Reed, Jackeline Peraza, Frederique Van Den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange Mar 2024

Β-Actin G342d As A Cause Of Nk Cell Deficiency Impairing Lytic Synapse Termination, Abigail E Reed, Jackeline Peraza, Frederique Van Den Haak, Evelyn R Hernandez, Richard A Gibbs, Ivan K Chinn, James R Lupski, Enrica Marchi, Ran Reshef, Bachir Alobeid, Emily M Mace, Jordan S Orange

Faculty, Staff and Students Publications

Natural killer (NK) cell deficiency (NKD) occurs when an individual’s major clinical immunodeficiency derives from abnormal NK cells and is associated with several genetic etiologies. Three categories of β actin-related diseases with over 60 ACTB (β actin) variants have previously been identified, none with a distinct NK cell phenotype. An individual with mild developmental delay, macrothrombocytopenia, susceptibility to infections, molluscum, and EBV-associated lymphoma had functional NK cell deficiency for over a decade. A de novo ACTB variant encoding G342D β actin was identified and was consistent with the individual’s developmental and platelet phenotype. This novel variant also was found to …


Teaching Empathy: Comparison Of A Virtual Reality Experience Using Head-Mounted Display Versus Group Streaming, Dana Villmore, Elizabeth Dyer, Marilyn R. Gugliucci Mar 2024

Teaching Empathy: Comparison Of A Virtual Reality Experience Using Head-Mounted Display Versus Group Streaming, Dana Villmore, Elizabeth Dyer, Marilyn R. Gugliucci

Physician Assistant Faculty Publications

Empathy, an integral component of bedside manner, correlates with good healthcare provision. Training physician assistant (PA) students using Head-Mounted Display (HMD) virtual reality (VR) contributed to significant empathy increases. This pilot study, which relied on a retrospective analysis, compared a VR experience using HMD to a streamed modality (due to COVID safety) with PA students to measure empathy. We hypothesized that fully immersive, interactive HMD VR would lead to a statistically significant increase in empathy versus the streaming modality. The “Alfred Lab” VR allows viewers to “embody” a 74-year-old African American man with vision and hearing loss. The University of …


The Relationship Between Adverse Childhood Experiences And Juvenile Offender Typology, Aliza Beth Lipman Mar 2024

The Relationship Between Adverse Childhood Experiences And Juvenile Offender Typology, Aliza Beth Lipman

Dissertations and Theses

Approximately 1 in 5 girls and in 20 boys in the United States are victims of child sexual assault every year. Child sexual assault can lead to multiple negative short term and long-term impacts affecting general health, mental health, interpersonal relationships, socio-economic status, criminal behavior and more. Prevention research focuses on a thorough understanding of the perpetrators of assault and the context surrounding offenses in order to reduce and prevent assault. Within this research, juvenile offenders are perceived as a single homogenous group whereas adult offenders are consistently specified based on offender and offense characteristics. The exploration of the relationship …


Lifestyle Medicine For The Prevention And Treatment Of Pancreatitis And Pancreatic Cancer, Sruthi Kapliyil Subramanian, Bhaumik Brahmbhatt, Jennifer M Bailey-Lundberg, Nirav C Thosani, Pritesh Mutha Mar 2024

Lifestyle Medicine For The Prevention And Treatment Of Pancreatitis And Pancreatic Cancer, Sruthi Kapliyil Subramanian, Bhaumik Brahmbhatt, Jennifer M Bailey-Lundberg, Nirav C Thosani, Pritesh Mutha

Faculty, Staff and Student Publications

The incidence of pancreatitis and pancreatic cancer is on the upswing in the USA. These conditions often lead to higher healthcare costs due to the complex nature of diagnosis and the need for specialized medical interventions, surgical procedures, and prolonged medical management. The economic ramification encompasses direct healthcare expenses and indirect costs related to productivity losses, disability, and potential long-term care requirements. Increasing evidence underscores the importance of a healthy lifestyle in preventing and managing these conditions. Lifestyle medicine employs evidence-based interventions to promote health through six key pillars: embracing a whole-food, plant-predominant dietary pattern; regular physical activity; ensuring restorative …


A Novel Spatiotemporal Graph Convolutional Network Framework For Functional Connectivity Biomarkers Identification Of Alzheimer’S Disease, Ying Zhang, Le Xue, Shuoyan Zhang, Jiacheng Yang, Qi Zhang, Min Wang, Luyao Wang, Mingkai Zhang, Jiehui Jiang, Yunxia Li Mar 2024

A Novel Spatiotemporal Graph Convolutional Network Framework For Functional Connectivity Biomarkers Identification Of Alzheimer’S Disease, Ying Zhang, Le Xue, Shuoyan Zhang, Jiacheng Yang, Qi Zhang, Min Wang, Luyao Wang, Mingkai Zhang, Jiehui Jiang, Yunxia Li

Faculty, Staff and Student Publications

BACKGROUND: Functional connectivity (FC) biomarkers play a crucial role in the early diagnosis and mechanistic study of Alzheimer's disease (AD). However, the identification of effective FC biomarkers remains challenging. In this study, we introduce a novel approach, the spatiotemporal graph convolutional network (ST-GCN) combined with the gradient-based class activation mapping (Grad-CAM) model (STGC-GCAM), to effectively identify FC biomarkers for AD.

METHODS: This multi-center cross-racial retrospective study involved 2,272 participants, including 1,105 cognitively normal (CN) subjects, 790 mild cognitive impairment (MCI) individuals, and 377 AD patients. All participants underwent functional magnetic resonance imaging (fMRI) and T1-weighted MRI scans. In this study, …


Btn1a1 Is A Novel Immune Checkpoint Mutually Exclusive To Pd-L1, Young-Seung Kim, Seung-Hoon Lee, Andrew H Park, Chunai Wu, Bong-Ki Hong, Hyunjin Jung, Steven H Lin, Stephen S Yoo Mar 2024

Btn1a1 Is A Novel Immune Checkpoint Mutually Exclusive To Pd-L1, Young-Seung Kim, Seung-Hoon Lee, Andrew H Park, Chunai Wu, Bong-Ki Hong, Hyunjin Jung, Steven H Lin, Stephen S Yoo

Faculty, Staff and Student Publications

BACKGROUND: While Programmed cell death protein 1 (PD-1)/programmed cell death-ligand 1 (PD-L1) blockade is a potent antitumor treatment strategy, it is effective in only limited subsets of patients with cancer, emphasizing the need for the identification of additional immune checkpoints. Butyrophilin 1A1 (BTN1A1) has been reported to exhibit potential immunoregulatory activity, but its ability to function as an immune checkpoint remains to be systematically assessed, and the mechanisms underlying such activity have yet to be characterized.

METHODS: BTN1A1 expression was evaluated in primary tumor tissue samples, and its ability to suppress T-cell activation and T cell-dependent tumor clearance was examined. …


Outpatient Covid-19 Convalescent Plasma Recipient Antibody Thresholds Correlated To Reduced Hospitalizations Within A Randomized Trial, Han-Sol Park, Anna Yin, Caelan Barranta, John S Lee, Christopher A Caputo, Jaiprasath Sachithanandham, Maggie Li, Steve Yoon, Ioannis Sitaras, Anne Jedlicka, Yolanda Eby, Malathi Ram, Reinaldo E Fernandez, Owen R Baker, Aarthi G Shenoy, Giselle S Mosnaim, Yuriko Fukuta, Bela Patel, Sonya L Heath, Adam C Levine, Barry R Meisenberg, Emily S Spivak, Shweta Anjan, Moises A Huaman, Janis E Blair, Judith S Currier, James H Paxton, Jonathan M Gerber, Joann R Petrini, Patrick B Broderick, William Rausch, Marie Elena Cordisco, Jean Hammel, Benjamin Greenblatt, Valerie C Cluzet, Daniel Cruser, Kevin Oei, Matthew Abinante, Laura L Hammitt, Catherine G Sutcliffe, Donald N Forthal, Martin S Zand, Edward R Cachay, Jay S Raval, Seble G Kassaye, Christi E Marshall, Anusha Yarava, Karen Lane, Nichol A Mcbee, Amy L Gawad, Nicky Karlen, Atika Singh, Daniel E Ford, Douglas A Jabs, Lawrence J Appel, David M Shade, Bryan Lau, Stephan Ehrhardt, Sheriza N Baksh, Janna R Shapiro, Jiangda Ou, Yu Bin Na, Maria D Knoll, Elysse Ornelas-Gatdula, Netzahualcoyotl Arroyo-Curras, Thomas J Gniadek, Patrizio Caturegli, Jinke Wu, Nelson Ndahiro, Michael J Betenbaugh, Alyssa Ziman, Daniel F Hanley, Arturo Casadevall, Shmuel Shoham, Evan M Bloch, Kelly A Gebo, Aaron Ar Tobian, Oliver Laeyendecker, Andrew Pekosz, Sabra L Klein, David J Sullivan Mar 2024

Outpatient Covid-19 Convalescent Plasma Recipient Antibody Thresholds Correlated To Reduced Hospitalizations Within A Randomized Trial, Han-Sol Park, Anna Yin, Caelan Barranta, John S Lee, Christopher A Caputo, Jaiprasath Sachithanandham, Maggie Li, Steve Yoon, Ioannis Sitaras, Anne Jedlicka, Yolanda Eby, Malathi Ram, Reinaldo E Fernandez, Owen R Baker, Aarthi G Shenoy, Giselle S Mosnaim, Yuriko Fukuta, Bela Patel, Sonya L Heath, Adam C Levine, Barry R Meisenberg, Emily S Spivak, Shweta Anjan, Moises A Huaman, Janis E Blair, Judith S Currier, James H Paxton, Jonathan M Gerber, Joann R Petrini, Patrick B Broderick, William Rausch, Marie Elena Cordisco, Jean Hammel, Benjamin Greenblatt, Valerie C Cluzet, Daniel Cruser, Kevin Oei, Matthew Abinante, Laura L Hammitt, Catherine G Sutcliffe, Donald N Forthal, Martin S Zand, Edward R Cachay, Jay S Raval, Seble G Kassaye, Christi E Marshall, Anusha Yarava, Karen Lane, Nichol A Mcbee, Amy L Gawad, Nicky Karlen, Atika Singh, Daniel E Ford, Douglas A Jabs, Lawrence J Appel, David M Shade, Bryan Lau, Stephan Ehrhardt, Sheriza N Baksh, Janna R Shapiro, Jiangda Ou, Yu Bin Na, Maria D Knoll, Elysse Ornelas-Gatdula, Netzahualcoyotl Arroyo-Curras, Thomas J Gniadek, Patrizio Caturegli, Jinke Wu, Nelson Ndahiro, Michael J Betenbaugh, Alyssa Ziman, Daniel F Hanley, Arturo Casadevall, Shmuel Shoham, Evan M Bloch, Kelly A Gebo, Aaron Ar Tobian, Oliver Laeyendecker, Andrew Pekosz, Sabra L Klein, David J Sullivan

Faculty, Staff and Students Publications

BACKGROUND

COVID-19 convalescent plasma (CCP) virus-specific antibody levels that translate into recipient posttransfusion antibody levels sufficient to prevent disease progression are not defined.

METHODS

This secondary analysis correlated donor and recipient antibody levels to hospitalization risk among unvaccinated, seronegative CCP recipients within the outpatient, double-blind, randomized clinical trial that compared CCP to control plasma. The majority of COVID-19 CCP arm hospitalizations (15/17, 88%) occurred in this unvaccinated, seronegative subgroup. A functional cutoff to delineate recipient high versus low posttransfusion antibody levels was established by 2 methods: (i) analyzing virus neutralization–equivalent anti–Spike receptor-binding domain immunoglobulin G (anti-S-RBD IgG) responses in donors …


Viral Epitope Scanning Reveals Correlation Between Seasonal Hcovs And Sars-Cov-2 Antibody Responses Among Cancer And Non-Cancer Patients, Salum J. Lidenge, Dicle Yalcin, Sydney J. Bennett, Owen Ngalamika, Brenda B. Kweyamba, Chacha J. Mwita, For Yue Tso, Julius Mwaiselage, John T. West, Charles Wood Mar 2024

Viral Epitope Scanning Reveals Correlation Between Seasonal Hcovs And Sars-Cov-2 Antibody Responses Among Cancer And Non-Cancer Patients, Salum J. Lidenge, Dicle Yalcin, Sydney J. Bennett, Owen Ngalamika, Brenda B. Kweyamba, Chacha J. Mwita, For Yue Tso, Julius Mwaiselage, John T. West, Charles Wood

School of Medicine Faculty Publications

Seasonal coronaviruses (HCoVs) are known to contribute to cross-reactive antibody (Ab) responses against SARS-CoV-2. While these responses are predictable due to the high homology between SARS-CoV-2 and other CoVs, the impact of these responses on susceptibility to SARS-CoV-2 infection in cancer patients is unclear. To investigate the influence of prior HCoV infection on anti-SARS-CoV-2 Ab responses among COVID-19 asymptomatic individuals with cancer and controls without cancers, we utilized the VirScan technology in which phage immunoprecipitation and sequencing (PhIP-seq) of longitudinal plasma samples was performed to investigate high-resolution (i.e., epitope level) humoral CoV responses. Despite testing positive for anti-SARS-CoV-2 Ab in …


Safety And Efficacy Of Dynamic Catheter-Directed Cerebral Digital Subtraction Angiography For Diagnosis Of Bowhunter Syndrome Spectrum Disorders: A Systematic Review Of The Literature, Joo Won Choi, Yang Qiao, Tej I Mehta, Jessica N Wilson, Trevor H Torigoe, Samuel Tsappidi, Y Jonathan Zhang, Stacy C Brown, Ferdinand K Hui, Todd Abruzzo Mar 2024

Safety And Efficacy Of Dynamic Catheter-Directed Cerebral Digital Subtraction Angiography For Diagnosis Of Bowhunter Syndrome Spectrum Disorders: A Systematic Review Of The Literature, Joo Won Choi, Yang Qiao, Tej I Mehta, Jessica N Wilson, Trevor H Torigoe, Samuel Tsappidi, Y Jonathan Zhang, Stacy C Brown, Ferdinand K Hui, Todd Abruzzo

Faculty, Staff and Student Publications

Introduction: Dynamic catheter-directed cerebral digital subtraction angiography (dcDSA) is the gold standard for diagnosing dynamic vascular occlusion syndromes such as bowhunter syndrome (BHS). Nonetheless, concerns about its safety exist and no standardized protocols have been published to date.

Methods: We describe our methodology and insights regarding the use of dcDSA in patients with BHS. We also perform a systematic literature review to identify cases of typical and atypical presentations of BHS wherein dcDSA was utilized and report on any procedural complications related to dcDSA.

Results: Our study included 104 cases wherein dcDSA was used for the diagnosis of BHS. There …


Infant Appendicitis: A Case Presentation Of Appendicitis In A Nine-Month-Old Infant With Respiratory Syncytial Virus (Rsv) And Otitis Media And Review Of Literature., Leslie Hueschen, April Mcneill-Johnson Mar 2024

Infant Appendicitis: A Case Presentation Of Appendicitis In A Nine-Month-Old Infant With Respiratory Syncytial Virus (Rsv) And Otitis Media And Review Of Literature., Leslie Hueschen, April Mcneill-Johnson

Manuscripts, Articles, Book Chapters and Other Papers

Appendicitis in children < 5 years old is uncommon and even less common in children < 1 year old. Symptoms of appendicitis can be non-specific and mimic other common pediatric diseases, causing delays in diagnosis. Without a timely diagnosis, young children with appendicitis are at risk of developing worsening disease, intra-abdominal abscess, perforation, and bacteremia. We submit a case of a nine-month-old male infant presenting with fever, vomiting, and irritability seen the day prior and treated for otitis media, who was ultimately diagnosed with appendicitis with concomitant viral infection (respiratory syncytial virus and human rhinovirus/enterovirus) and treated with intravenous antibiotics and laparoscopic appendectomy. This case illustrates how easy it is to misdiagnose infant appendicitis due to factors including normal developmental speech barriers, nonspecific presentations, and overlap of symptoms with many other common childhood illnesses, along with a challenging abdominal examination. Delay in diagnosis leads to increased rates of perforation and complications. Providers should trust abnormal physical examination findings, especially abdominal guarding against palpation, and keep a wide differential diagnosis in order to diagnose appendicitis in young children.


Trends In Us Public Confidence In Science And Opportunities For Progress, Arthur Lupia, David B Allison, Kathleen Hall Jamieson, Jennifer Heimberg, Magdalena Skipper, Susan M Wolf Mar 2024

Trends In Us Public Confidence In Science And Opportunities For Progress, Arthur Lupia, David B Allison, Kathleen Hall Jamieson, Jennifer Heimberg, Magdalena Skipper, Susan M Wolf

Children’s Nutrition Research Center Staff Publications

In recent years, many questions have been raised about whether public confidence in science is changing. To clarify recent trends in the public's confidence and factors that are associated with these feelings, an effort initiated by the National Academies' Strategic Council for Research Excellence, Integrity, and Trust (the Strategic Council) analyzed findings from multiple survey research organizations. The Strategic Council's effort, which began in 2022, found that U.S. public confidence in science, the scientific community, and leaders of scientific communities is high relative to other civic, cultural, and governmental institutions for which researchers regularly collect such data. However, confidence in …