Medicine and Health Sciences Commons^™

Epidemiology And Longitudinal Course Of Chylomicronemia: Insights From Nhanes And A Large Health Care System, Seyedmohammad Saadatagah, Mohammadreza Naderian, Miriam Larouche, Daniel Gaudet, Iftikhar J Kullo, Christie M Ballantyne

Faculty, Staff and Students Publications

Background: Chylomicronemia is characterized by fasting triglyceride (TG) ≥1000 mg/dL; its longitudinal course is not well studied.

Methods: Using National Health and Nutrition Examination Survey (NHANES) data (1999-2018; n = 21,998), we determined chylomicronemia prevalence and temporal trend. Using Mayo Clinic data (4,524,506 TG measurements for 1,294,044 individuals), we studied the longitudinal course and ascertained persistent chylomicronemia (PC), defined as TG ≥1000 mg/dL in more than half the measurements for individuals with ≥3 measurements. We used logistic regression to assess factors associated with PC.

Results: In NHANES, the prevalence of chylomicronemia was 0.20% overall, with higher prevalence in men (0.32%) …

Simulation Model To Estimate Pretreatment (Baseline) Low-Density Lipoprotein Cholesterol Levels In People Living With Homozygous Familial Hypercholesterolemia, Jing Gu, Robert J Sanchez, Alexandra Koumas, Sandeep Tripathi, Harshit Dixit, Adam Amer, Laurence Sperling, Christie M Ballantyne

Faculty, Staff and Students Publications

Introduction: Pretreatment levels of low-density lipoprotein cholesterol (LDL-C) are a primary consideration for the clinical diagnosis of homozygous familial hypercholesterolemia (HoFH). However, determination of pretreatment LDL-C can be challenging in this population because many individuals begin lipid-lowering therapy (LLT) early in life before diagnosis of HoFH.

Methods: A previously developed simulation model was adapted to estimate pretreatment LDL-C in people living with HoFH, based on their treated LDL-C value and current LLT (statin, ezetimibe, alirocumab, evolocumab, and/or lipoprotein apheresis).

Results: The tool includes an interface for users to provide relevant details for estimating non-clinical pretreatment LDL-C, specifically for patients suspected …

Minimum Standards For Training In Colorectal Endoscopic Mucosal Resection Among Advanced Endoscopy Trainees, Dennis Yang, Ernesto Robalino Gonzaga, Muhammad Khalid Hasan, Arvind Julius Trindade, Mark Radlinski, Rebecca A Burbridge, Jeffrey Mosko, Pushpak Taunk, Salmaan Jawaid, Mohamed O Othman, David L Diehl, Harshit S Khara, Quin Liu, Srinivas Gaddam, Harry Aslanian, Shailendra S Chauhan, Amrita Sethi, John Poneros, Jason Samarasena, Ali M Ahmed, Uzma D Siddiqui, Dennis Chen, Moamen Gabr, Andrew Y Wang

Faculty, Staff and Students Publications

Background and study aims: Data on colorectal endoscopic mucosal resection (C-EMR) training during advanced endoscopy fellowship remain limited. We aimed to determine the number of procedures required by an "average" advanced endoscopy trainee (AET) to achieve competence in cognitive and technical C-EMR skills.

Methods: AETs from advanced endoscopy training programs (AETPs) were graded on every C-EMR using a standardized assessment tool. Cumulative sum (CUSUM) analysis was used to generate individual and aggregate learning curves to estimate the minimum number of cases required to achieve competence for overall, technical, and cognitive components of C-EMR. AETs completed a self-assessment questionnaire on C-EMR …

Long-Term Mortality Following Sars-Cov-2 Infection In Rural Versus Urban Dwellers With Autoimmune Or Inflammatory Rheumatic Disease: A Retrospective Cohort Analysis From The National Covid Cohort Collaborative, A Jerrod Anzalone, Lesley E Jackson, Namrata Singh, Maria I Danila, Elizabeth Reisher, Rena C Patel, Jasvinder A Singh

Faculty, Staff and Students Publications

Objective: Autoimmune or inflammatory rheumatic diseases (AIRDs) increase the risk for poor COVID-19 outcomes. Although rurality is associated with higher post-COVID-19 mortality in the general population, whether rurality elevates this risk among people with AIRD is unknown. We assessed associations between rurality and post-COVID-19 all-cause mortality, up to two years post infection, among people with AIRD using a large nationally sampled US cohort.

Methods: This retrospective study used the National COVID Cohort Collaborative, a medical records repository containing COVID-19 patient data. We included adults with two or more AIRD diagnostic codes and a COVID-19 diagnosis documented between April 2020 and …

Association Between Parathyroid Hormone Concentration And Incident Atrial Fibrillation In Older Persons With Kidney Failure Initiating Dialysis, Pascale Khairallah, Sai Liu, Maria E Montez-Rath, Kevin F Erickson, Tara I Chang, Wolfgang C Winkelmayer

Faculty, Staff and Students Publications

Introduction: Atrial fibrillation (AF) is common in persons with kidney failure on hemodialysis. In the general population, higher intact parathyroid hormone (iPTH) levels were found to be associated with presence of AF. Whether iPTH associates with AF in patients on hemodialysis is unknown.

Methods: Using merged USRDS-DaVita data (2006-2011), we selected persons aged 67+ years who initiated hemodialysis and survived 120 days. Eligible persons had continuous Medicare A + B coverage from 2 years prior to kidney failure and no diagnosis of AF. Sociodemographic, comorbidity, and clinical information were abstracted from Medicare forms, billing claims, and electronic health records. iPTH …

Association Of Insulin Resistance With Radiographic Lung Abnormalities And Incident Lung Disease: The Framingham Offspring Study, Sarath Raju, Paula Sierra, Vickram Tejwani, Kristen A Staggers, Meredith Mccormack, Dennis T Villareal, Ivan O Rosas, Nicola A Hanania, Tianshi David Wu

Faculty, Staff and Students Publications

Objective: Insulin resistance (IR) may be a risk factor for lung disease, but objective evidence is limited. We sought to define the relationship of longitudinal IR with radiographic imaging outcomes and examiner-identified incident lung disease in the Framingham Offspring Study.

Research design and methods: Participants without baseline lung disease underwent repeated measurements of fasting insulin and glucose levels over an average period of 13.6 years, from which time-weighted average HOMA-IR was calculated. Each participant then underwent a cardiac gated whole-lung computed tomography scan, which was analyzed for the presence of emphysema, interstitial lung abnormalities (ILAs), and quantitative airway features. Incident …

Stent Thrombosis: A Contemporary Guide To Definitions, Risk Factors, And Management, Ambre Flowers, Bernard Evenhuis, Benjamin Gabanic, Allison Weiss, Scott Eisenberg, Riyan Siddiqui, Affan Rizwan, Iqra Riaz, Hafeez Ul Hassan Virk, Mahboob Alam, Muzamil Khawaja, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Stent thrombosis remains a major complication following percutaneous coronary intervention, with significant morbidity and mortality implications. Despite advancements in drug-eluting stents and optimized pharmacotherapy, real-world registry data indicate that definite or probable stent thrombosis occurs in approximately 0.5% of percutaneous coronary intervention cases, with a 30-day mortality rate approaching 25% and a long-term risk exceeding 30% at 10 years. Stent thrombosis is classified based on timing into acute, subacute, late, and very late thrombosis, with subacute and very late stent thrombosis being the most prevalent. Clinical consequences include myocardial infarction, emergent revascularization, and heightened cardiovascular risk, necessitating timely recognition and …

Testosterone Plus Lifestyle Therapy Improves Skeletal Muscle Glycolysis In Older Men With Obesity And Hypogonadism, Viola Viola, Marlene Aguilar, Maria Liza Duremdes Nava, Alessandra Celli, Reina Armamento-Villareal, Yoann Barnouin, Nicola Napoli, Nagireeddy Putluri, Clifford Qualls, Dennis T Villareal

Faculty, Staff and Students Publications

Objective: Weight loss in older men with obesity and hypogonadism accelerates musculoskeletal decline, yet the underlying metabolic mechanisms remain unclear. Testosterone replacement therapy (TRT), when added to lifestyle therapy (LT), mitigates this decline, but its metabolic basis has not been defined. We examined skeletal muscle metabolomic adaptations to LT with or without TRT, focusing on glycolysis, the pentose phosphate pathway (PPP), the tricarboxylic acid (TCA) cycle, and carnitine metabolism to identify dominant pathways of metabolic adaptation.

Design: Randomized, double-blind, placebo-controlled trial (LITROS).

Methods: Eighty-three men aged 65 years or older with obesity (BMI ≥30 kg/m2), hypogonadism (testosterone < 10.4 nmol/L), and frailty (Physical Performance Test score ≤31) were randomized to 26 weeks of LT plus TRT (LT+TRT) or LT plus placebo (LT+Pbo). A metabolomic substudy was performed in 44 participants, who underwent serial biopsies of the vastus lateralis for targeted LC-MS/MS analysis of intermediates in glycolysis, PPP, TCA cycle, and carnitine metabolism.

Results: Among the …

Finite Element Modeling In Obstetrics And Gynecology: Advances, Applications, And Challenges, Taylor Moseley, Ashley J Hicks, Elizabeth M Cosgriff-Hernandez, Manuel Karl Rausch, Julie Hakim

Faculty, Staff and Students Publications

Finite element modeling (FEM) is a critical tool in biomechanics and biomedical engineering, offering valuable insights where in vivo or ex vivo investigations are not possible. This review specifically highlights the diverse applications of FEM within obstetrics and gynecology through a comprehensive analysis of the literature. We explore the past use of FEM in analyzing complications affecting pelvic floor structures, urinary continence, and reproduction. The potential contributions of FEM in addressing these challenges are summarized and future directions for its application in obstetrics and gynecology are highlighted.

Defining Dysphoric Milk Ejection Reflex: Using Premenstrual Dysphoric Disorder As A Framework For Proposing Preliminary Diagnostic Criteria, Megan Howard, Teni Davoudian, Nicole H Cirino

Faculty, Staff and Students Publications

Dysphoric Milk Ejection Reflex (D-MER) is a distinct neurobiological condition characterized by negative alterations in mental state in response to milk letdown during lactation. Symptoms vary by patient and can include feelings of sadness, anxiety or agitation. Importantly, the symptoms are brief, typically lasting no more than 5 minutes. Prevalence has been found between 6 and 27% of lactating women, but studies show heterogeneity, due in part to inconsistent definition. D-MER is not currently classified in the Diagnostic and Statistical Manual of Mental Disorders (DSM) or the International Classification of Diseases (ICD), which presents a challenge for researchers of the …

Evidence-Based Evaluation To Promote High-Value Care In Pediatric Critical Care: It Is Time To Fully Adopt, Maya Dewan, Rajit K Basu, Erin Bennett, Lily B Glater-Welt, Mark Hall, Benson S Hsu, Lia Lowrie, Venessa Lynn Pinto, Alexandre T Rotta, Edward Seferian, Linda Siegel, Heather A Wolfe, Vijay Srinivasan

Faculty, Staff and Students Publications

Introduction: Evidence-based recommendations for high-value care in pediatric critical care are needed. We sought to develop recommendations to identify unnecessary interventions, enhance outcomes, and promote efficient, patient-centered practices.

Methods: Using a modified Delphi process, a multi-institutional panel of pediatric intensivists from a national pediatric critical care quality improvement group identified 30 potential topics and selected 20 high- and medium-priority topics for further evaluation, and narrowed them to 10 by consensus voting. A structured scoping review of literature published between 2014 and 2023 identified 10 practices, which were critically assessed using the PICOST framework. The panel selected 5 priority recommendations based …

Difficulties In Diagnosing Lactose Malabsorption, Richard Kellermayer

Faculty, Staff and Students Publications

No abstract provided.

Bearing Witness: Témoignage As A Tool For Child Advocacy During Armed Conflict, Anik Patel, Amber Alayyan, Heather A Haq, Parminder S Suchdev, Naji Hattar, Jeffrey Goldhagen, David J Schonfeld, Tanya Haj-Hassan, Lia Harris, Seema Jilani, Ayesha Kadir, Paul H Wise, Lisa Umphrey

Faculty, Staff and Students Publications

Children affected by armed conflict suffer devastating physical, emotional, and social harm. War uproots families, forcing many to flee as refugees or internally displaced persons, while others remain trapped in dangerous environments. In these crises, children face disproportionate risks-violence, exploitation, disrupted education, and collapsed healthcare systems. Their unique vulnerabilities require urgent, targeted action to protect their health, rights, and development. Beyond immediate care, the humanitarian principle of témoignage-bearing witness-is essential. Rooted in humanitarian ethics, témoignage means speaking out about injustice, amplifying the voices of those affected, and driving systemic change. It challenges traditional notions of neutrality and calls on humanitarian …

What Are The Genetic Influences Of Alcohol Sensitivity And Alcohol Metabolism? A Narrative Review Of Human Studies, Erwin Murray, Karen G. Chartier Phd, Msw

UROP Posters

Background: Alcohol sensitivity and alcohol metabolism are two phenotypes associated with alcohol use disorder (AUD) influenced by genetics. This narrative review aims to answer “What are the genetic influences of alcohol sensitivity and alcohol metabolism?” to gain a better understanding of the genetic aspects of AUD.

Methods: A database search was performed in PubMed. Empirical human genetic studies published between 2009 and 2025 that focused on alcohol sensitivity (measured by the Self-Rating of the Effects of Alcohol scale) or alcohol-metabolizing genes were eligible for review. Studies were screened to determine inclusion for the current review.

Findings: Fifteen …

Vascularized Iliac Crest Bone Graft For The Reconstruction Of Anterior Vertebral Corpus Defects: A Literature Review And Cadaveric Feasibility Study, Jonathan L Jeger, Casey J Martinez, Maria Shvedova, Alec Simoni, Alanna Rebecca, Sebastian Winocour, Alexander E Ropper, Michael Bohl, William J Casey, Maziyar Kalani, Edward M Reece

Faculty, Staff and Students Publications

BACKGROUND: Vertebral body defects pose a significant challenge in spinal reconstructive surgery. Compression fractures of the vertebral corpus are typically treated with vertebral augmentation procedures. There are significant risks associated with the introduction of foreign material in the spine, including infection and pseudarthrosis. Vascularized bone grafts (VBGs) have become a popular alternative for spinal reconstruction in the last decade thanks to their robust blood supply and autologous nature. VBGs have been described predominantly for the reconstruction of posterior vertebral defects. The objective of this study is to describe a novel procedure for the reconstruction of vertebral corpus defects in the …

Promoting Angiogenesis/Osteogenesis By A New Copper/Magnesium Hydroxide Hybrid Nanoparticle: In Vitro And In Vivo Investigation, Parsa Khalkhali, Meisam Omidi, Daniela S. Masson-Meyers, Babak Akbari, Mohammad Mehdi Dehghan, Hossein Aminianfar, Saeed Farzad-Mohajeri, Van Mansouri, Lobat Tayebi

School of Dentistry Faculty Research and Publications

In this study, a new hybrid nanoparticle composed of magnesium hydroxide and copper oxide (Mg(OH)2/CuO) with an optimized ratio of magnesium (Mg) to copper (Cu) was designed and incorporated into a 3D-printed scaffold made of polycaprolactone (PCL) and gelatin. These hybrid nanostructures (MCNs) were prepared using a green, solvent-free method. Their topography, surface morphology, and structural properties were characterized using scanning electron microscopy (SEM), transmission electron microscopy (TEM), X-ray diffraction (XRD), and X-ray photoelectron spectroscopy (XPS). The fabricated 3D-printed PCL/Gelatin/MCN scaffolds were investigated in vitro and in vivo. Cell viability tests on murine calvarial preosteoblasts (MC3T3-E1) and human umbilical vein …

Primary Cardiac Osteosarcoma: Epidemiology, Diagnosis, And Management - A Narrative Review, Tommy Li, Eric Nguyen, Jamal Hasoon, Ali Khalifa, Anvinh Nguyen

Faculty, Staff and Students Publications

Primary cardiac sarcomas are exceedingly rare, with a very low incidence in the general population. A variety of sarcoma subtypes can originate in the heart, including angiosarcoma, rhabdomyosarcoma, leiomyosarcoma, fibrosarcoma, and osteosarcoma. These tumors are typically classified based on histological characteristics, most often determined following surgical excision or biopsy. Among them, primary cardiac osteosarcoma is one of the rarest forms, with fewer than 60 cases reported in the literature to date. This narrative review aims to provide an overview of primary cardiac osteosarcoma, including its epidemiology, clinical presentation, and current management strategies. Additionally, we highlight several remarkable case reports to …

On Minimizing Risk And Harm In The Use Of Psychedelics, Jules Evans, Marc Aixalà, Brian T Anderson, William Brennan, Rebecka Bremler, Joost J Breeksema, Lisa Burback, Abigail E Calder, Robin L Carhart-Harris, Katherine Cheung, Neşe Devenot, Ingmar Gorman, Jakub Greń, Peter S Hendricks, Brian Holoyda, Edward Jacobs, Joy Krecké, Daniel J Kruger, David Luke, Tomislav Majić, Amy L Mcguire, Nicky J Mehtani, David S Mathai, Kristin Nash, Tehseen Noorani, Roman Palitsky, Oliver C Robinson, Otto Simonsson, Elin Stahre, Michiel Van Elk, David B Yaden

Center for Medical Ethics and Health Policy Staff Publications

Objective: This article outlines recommendations from 30 psychedelic researchers on how to create a better psychedelic safety net.

Methods: A survey of 30 psychedelic researchers asked them to identify key critical research gaps around psychedelic harm and safety.

Results: The critical research gaps identified by the authors included defining the main types of psychedelic harm, the predictors of those harms, and the most effective way to treat those harms. They also call for better support for those experiencing post-psychedelic difficulties, including better online information, peer support groups, affordable therapy, and psychiatric consultation and medication. Finally, the authors call for better …

A Landscape Analysis Of Psychedelic Retreat Organizations Advertising Online, Logan Neitzke-Spruill, Caroline S Beit, Jill Oliver Robinson, Nikita Singh, Srijith Kambala, Rishi Ramesh, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

Research into psychedelics' clinical potential has corresponded to a growth in public interest and adult use. One common pathway to accessing psychedelics is through psychedelic retreats. While individual retreats have been characterized in the anthropological literature, no systematic evaluation of the psychedelic retreat industry exists. Assessing the characteristics of the psychedelic retreat industry is critical to understanding the associated ethical, legal, and social implications and ensuring consumer safety. To this end, we conducted a landscape analysis of online, publicly available information to capture and characterize a broad range of organizations offering psychedelic retreats and marketing to English-speaking consumers. From July …

Adolescent And Caregiver Preparation For Legal Changes At Age 18, Blanca Sanchez-Fournier, Jordyn Babla, Mary Majumder, Beth H Garland, Constance M Wiemann, Albert C Hergenroeder

Center for Medical Ethics and Health Policy Staff Publications

Background: Most adolescents with special healthcare needs (ASHCN) will assume legal responsibility for making decisions about their medical treatment at age 18. Simultaneously, parents or other legal representatives (Caregivers) will lose ASHCN medical record access. This study examined ASHCN and Caregiver knowledge of, satisfaction with, and suggestions for improvement in preparing for these changes.

Methods: Eighty-three dyads (18-year-old ASHCN and Caregivers) completed an assessment to evaluate their knowledge about changes in responsibility for decision making with a focus on consent, satisfaction with the preparation received, and recommendations for improved preparation. Descriptive statistics and mean comparisons were used. Responses to open-ended …

Maintenance Therapy With A P2y12 Receptor Inhibitor After Cangrelor In Patients With Acute Coronary Syndrome The Electra-Sirio 2 Investigators’ Viewpoint, Jacek Kubica, Piotr Adamski, Robert Gajda, Aldona Kubica, Małgorzata Ostrowska, Gavino Casu, Diana A Gorog, Paul A Gurbel, Tomasz Hajdukiewicz, Miłosz Jaguszewski, Young-Hoon Jeong, Agata Kosobucka-Ozdoba, Zuzana Motovska, Piotr Niezgoda, Maciej Piasecki, Przemysław Podhajski, Paolo Raggi, Uzeyir Rahimov, Jolanta M Siller-Matula, Grzegorz Skonieczny, Łukasz Szarpak, Paweł Szymański, Udaya Tantry, Eliano P Navarese

Faculty, Staff and Students Publications

According to the ESC guidelines, cangrelor may be considered in P2Y12-inhibitor-naïve acute coronary syndrome (ACS) patients undergoing percutaneous coronary intervention (PCI). The aim of this review is to summarize available evidence on the optimal maintenance therapy with P2Y12 receptor inhibitor after cangrelor. Transitioning from cangrelor to a thienopyridine, but not ticagrelor, can be associated with a drug-drug interaction (DDI); therefore, a ticagrelor loading dose (LD) can be given any time before, during, or at the end of a cangrelor infusion, while a LD of clopidogrel or prasugrel should be administered at the time the infusion of cangrelor ends or within …

Single-Cell Multiome Characterizing Intercellular Communication And Intracellular Regulation Of Epithelium And Mesenchymal During Secondary Palate Development In Mice, Usama Hussein, Yulin Dai, Andi Liu, Toshiyuki Itai, Fangfang Yan, Lukas M Simon, Zhongming Zhao

Faculty, Staff and Student Publications

Cell-cell communication between adjacent tissues is fundamental to orchestrating organ morphogenesis. During secondary palate development, interactions between epithelial and mesenchymal cells regulate epithelial-mesenchymal signaling, thereby controlling cell proliferation, differentiation, and tissue patterning. However, the precise molecular mechanisms underlying these interactions remain largely unexplored. In this study, we employed single-cell multiome sequencing to simultaneously profile chromatin accessibility and gene expression in 35,150 individual cells isolated from the developing mouse secondary palate at embryonic days E12.5, E13.5, E14.0, and E14.5. Our analysis revealed that intercellular signaling plays a pivotal role in directing secondary palate morphogenesis, with WNT, BMP, and PDGF pathways emerging …

Early Structural Valve Deterioration And Cusp Tear Leading To Acute Heart Failure In A Second-Generation Trifecta Glide Technology Heart Valve, Akiyoshi Yamamoto, Kenji Kuwaki, Hidekazu Furuya, Yasunori Cho

The Texas Heart Institute Journal

This report highlights a case of early structural valve deterioration with a cusp tear in a second-generation Abbott Trifecta Glide Technology bioprosthetic heart valve. A 70-year-old man had undergone aortic valve replacement with a Trifecta Glide Technology valve 30 months earlier for severe bicuspid aortic valve stenosis. He suddenly developed acute heart failure with dyspnea resulting from severe aortic valve regurgitation, with a cusp tear in the Trifecta Glide Technology valve, as demonstrated by transthoracic echocardiography. The patient was successfully treated with urgent repeat aortic valve replacement.

Clinician Attitudes Toward Palliative Care To Enhance The Quality Of Life For Patients With Sickle Cell Disease, Eberechi Nwogu-Onyemkpa, Amber B Amspoker, Nimrah Saleem, Aanand D Naik, Elizabeth Kvale, Ifeyinwa Osunkwo

Faculty, Staff and Student Publications

Objectives: Palliative care (PC) is rare for patients with sickle cell disease (SCD). This study evaluated clinician attitudes toward PC for SCD.

Methods: A cross-sectional survey was conducted between October 2022 and February 2023. Clinicians were recruited from institutions across the United States.

Results: Eighty-six participants completed the survey. Most were physicians (90%), female (72%), had >10 years of experience (63%), and lacked prior PC training (57%). Most participants agreed (83%) that patients with SCD would benefit from PC, disagreed (99%) that PC is only for dying patients, and expressed interest (91%) in learning about PC interventions. Clinicians with prior …

Lyme Carditis And Inflammation-Driven Plaque Erosion Presenting As Sudden Cardiac Arrest, Marco Kaldas, Moneal Shah, Diana Pashaieva, Georgios Lygouris, Anita Radhakrishnan

The Texas Heart Institute Journal

Lyme carditis represents a rare cardiac complication of Borrelia burgdorferi infection, often causing conduction disturbances but rarely causing malignant arrhythmias. Inflammatory acute coronary syndrome, driven by immune-mediated plaque erosion rather than rupture, represents a nontraditional ischemic mechanism. This case highlights their overlap. The case of a previously healthy man with Lyme disease who experienced cardiac arrest because of ventricular tachycardia is reported. Imaging showed myocardial inflammation together with coronary plaque erosion instead of plaque rupture. The patient underwent advanced diagnostic testing and received multidisciplinary medical care, which led to complete cardiac recovery and implantable cardioverter-defibrillator placement.

A Comprehensive Uhplc-Ms/Ms And Extraction Method Reveals Flavonoid Profile And Concentration Are Diverse In Spinach (Spinacia Oleracea L), Michael P Dzakovich, Elaine A Le, Alvin L Tak, Shaji K Chacko

Children’s Nutrition Research Center Staff Publications

INTRODUCTION: Spinach produces an array of unique flavonoids not commonly found in other fruits and vegetables. These molecules likely serve as defense agents against biotic and abiotic stress and may have health beneficial properties for humans. Current methods to analyze spinach flavonoids are incomplete and only capture a portion of this uncharacterized pathway. A comprehensive analysis method is needed to determine how genetics, environmental conditions, and other factors influence spinach flavonoid biosynthesis.

METHODS: We developed and validated a high-throughput extraction and ultra high-performance liquid chromatography tandem mass spectrometry (UHPLC-MS/MS) method to separate and quantify 39 spinach flavonoid species in 11.5 …

Overview Of The Head And Neck Tumor Segmentation For Magnetic Resonance Guided Applications (Hnts-Mrg) 2024 Challenge, Kareem A Wahid, Cem Dede, Dina M El-Habashy, Serageldin Kamel, Michael K Rooney, Yomna Khamis, Moamen R A Abdelaal, Sara Ahmed, Kelsey L Corrigan, Enoch Chang, Stephanie O Dudzinski, Travis C Salzillo, Brigid A Mcdonald, Samuel L Mulder, Lucas Mccullum, Qusai Alakayleh, Carlos Sjogreen, Renjie He, Abdallah S R Mohamed, Stephen Y Lai, John P Christodouleas, Andrew J Schaefer, Mohamed A Naser, Clifton D Fuller

Faculty, Staff and Student Publications

Magnetic resonance (MR)-guided radiation therapy (RT) is enhancing head and neck cancer (HNC) treatment through superior soft tissue contrast and longitudinal imaging capabilities. However, manual tumor segmentation remains a significant challenge, spurring interest in artificial intelligence (AI)-driven automation. To accelerate innovation in this field, we present the Head and Neck Tumor Segmentation for MR-Guided Applications (HNTS-MRG) 2024 Challenge, a satellite event of the 27th International Conference on Medical Image Computing and Computer Assisted Intervention. This challenge addresses the scarcity of large, publicly available AI-ready adaptive RT datasets in HNC and explores the potential of incorporating multi-timepoint data to enhance RT …

Igf-1 Impacts Neocortical Interneuron Connectivity In Epileptic Spasm Generation And Resolution, Carlos J Ballester-Rosado, John T Le, Trang T Lam, Anne E Anderson, James D Frost, John W Swann

Faculty, Staff and Students Publications

Little is known about the mechanisms that generate epileptic spasms following perinatal brain injury. Recent studies have implicated reduced levels of Insulin-like Growth Factor 1 (IGF-1) in these patients' brains. Other studies have reported low levels of the inhibitory neurotransmitter, GABA. In the TTX brain injury model of epileptic spasms, we undertook experiments to evaluate the impact of IGF-1 deficiencies on neocortical interneurons and their role in spasms. Quantitative immunohistochemical analyses revealed that neocortical interneurons that express glutamic acid decarboxylase, parvalbumin, or synaptotagmin 2 co-express IGF-1. In epileptic rats, expression of these three interneuron markers were reduced in the neocortex. …

Survey And Improvement Strategies For Gene Prioritization With Large Language Models, Matthew B Neeley, Guantong Qi, Guanchu Wang, Ruixiang Tang, Dongxue Mao, Chaozhong Liu, Sasidhar Pasupuleti, Bo Yuan, Fan Xia, Pengfei Liu, Zhandong Liu, Xia Hu

Duncan NRI Faculty and Staff Publications

Motivation: Rare diseases remain difficult to diagnose due to limited patient data and genetic diversity, with many cases remaining undiagnosed despite advances in variant prioritization tools. While large language models have shown promise in medical applications, their optimal application for trustworthy and accurate gene prioritization downstream of modern prioritization tools has not been systematically evaluated.

Results: We benchmarked various language models for gene prioritization using multi-agent and Human Phenotype Ontology classification approaches to categorize patient cases by phenotype-based solvability levels. To address language model limitations in ranking large gene sets, we implemented a divide-and-conquer strategy with mini-batching and token limiting …

Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor

Faculty, Staff and Students Publications

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma). Overexpression of ZIC1 suppresses the growth of group 3 medulloblastoma models, whereas it promotes the proliferation of SHH medulloblastoma precursor cells. SHH medulloblastoma ZIC1 mutants show increased activity versus wild-type ZIC1, whereas G4 medulloblastoma …