Medical Sciences Commons^™

Impact Of Treatment On The Health-Related Quality Of Life Of Children With Cancer In Saudi Arabia, Fayzah Hussain Alhussain, Amany Anwar Saeed Alabdullah

Saudi Medical Journal

Objective: The impact of cancer on health-related quality of life (HRQOL) is considerable, particularly for children undergoing oncological treatment. While research has addressed HRQOL in childhood cancer survivors, less attention has been given to those actively undergoing treatment, including in Saudi Arabia. This systematic review aimed to address this gap by quantitatively evaluating studies reporting on the HRQOL of children in Saudi Arabia during their active cancer treatment phase. We also compare these findings with studies from around the world, emphasising demographic, medical and parental predictors of HRQOL. Methods: A comprehensive search of relevant databases (MEDLINE, CENTRAL, Embase, PsycINFO and …

Identification Of Proteins With Immune Stimulatory Activities From The Culture Filtrates Of Nontuberculous Mycobacteria, Christian Albert Agyei Acheampong

Biotechnology Theses

Nontuberculous mycobacteria (NTM) are the mycobacterial species other than Mycobacterium tuberculosis, which causes tuberculosis, and Mycobacterium leprae, which causes leprosy. Diseases caused by NTM are on the rise in the United States and are steadily becoming a significant public health problem globally, particularly in developed countries. Despite the ability of NTM pathogens to interact with the host immune system, the proteins responsible for eliciting host immune responses remain unidentified, making the accurate and timely diagnosis of the disease a challenge. In this study, we tested the hypothesis that NTM strains secrete proteins that stimulate immune responses. Our study …

Integration Of Cognitive Processing Therapy For Ptsd And Cognitive-Behavioral Therapy For Co-Occurring Alcohol Use Disorder: Design And Methodology Of A Randomized Controlled Trial, Anka A Vujanovic, Sudie E Back, Debra L Kaysen, Amber M Jarnecke, Kat Roberts, Fiorela Ruiz, Kayla E Hall, Julianne C Flanagan, Joy M Schmitz, Sonya B Norman, Lyndsey Zoller, Patricia A Resick

Faculty, Staff and Student Publications

Background: The prevalent comorbidity of alcohol use disorder (AUD) with posttraumatic stress disorder (PTSD) is characterized by more severe symptomatology, greater functional impairment, increased suicide risk, and poorer treatment outcomes as compared to either disorder alone. Trauma-focused, cognitive-behavioral interventions delivered alongside interventions for substance use disorders are recommended to reduce PTSD severity and substance use. Cognitive Processing Therapy (CPT) for PTSD and cognitive-behavioral therapy (i.e., Relapse Prevention [RP]) for AUD are two of the most widely used and efficacious treatments for these conditions. There are few effective integrated treatments available for PTSD/AUD comorbidity. The present study addresses this critical gap …

Stimulant Medications And Bone Health, Christine M Swanson, Julie H Wolfe, Chadi A Calarge

Faculty, Staff and Students Publications

Purpose of review: This review summarizes the potential impact of stimulant medications on bone health, to raise awareness and optimize their safe use.

Recent findings: Stimulant medications can impair bone health through inadequate nutrient/calorie intake and stimulation of the sympathetic nervous system, which regulates bone metabolism. However, their use decreases fracture risk in younger populations ([Formula: see text]25 years old) with attention deficit/hyperactivity disorder (ADHD), likely through reductions in impulsivity and injury. Special care may be needed when fractures occur while using these medications, as recent data suggest psychostimulants are associated with impaired fracture healing. Prescription and non-prescription use of …

Contemporary Management Of Acute Heart Failure: From Emergency Presentation To Long-Term Remission, Jolie Bruno, Mattia Arrigo, Guillaume Baudry, Jan Biegus, Biykem Bozkurt, Kamilė Čerlinskaitė-Bajorė, Laura P Cohen, Nick Hartshorne-Evans, Shiro Ishihara, Neusa Jessen, Pieter Martens, Peder Myhre, Matteo Pagnesi, Carolyn Rosner, Novi Yanti Sari, Gianluigi Savarese, Kristoffer Grundtvig Skaarup, Aferdita Spahillari, Jozine M Ter Maaten, Heli Tolppanen, Jim L Januzzi, Alexandre Mebazaa

Faculty, Staff and Students Publications

Acute heart failure (AHF) represents a major global health challenge, with a substantial impact on survival, morbidity, and health care resource utilization. The clinical and economic burden associated with this condition continues to grow, highlighting the need for a timely, structured, and patient-centered approach to care. In light of the expanding body of data and evidence accumulated over recent years, it is necessary to rethink how we approach the recognition and management of AHF. This need has motivated the development of the present review, which aims to provide an updated and practical synthesis of the management of AHF-from early diagnostic …

Cardiac Hdac3 Disruption Contributes To Hdac Inhibitor-Induced Qt Prolongation, Jiao Lu, Christopher Ward, Sichong Qian, Lilei Zhang, Jiang Chang, Zheng Sun

Faculty, Staff and Students Publications

Histone deacetylase (HDAC) inhibitors are approved for cancer treatment and are being investigated for a wide range of other diseases. Despite their therapeutic promise, clinical studies have reported cardiac side effects, particularly electrocardiogram (EKG) abnormalities, with QT interval prolongation being one of the most consistently reported findings. The mechanisms underlying these cardiac effects remain unclear. In this study, we investigated the role of HDAC3 in cardiac electrophysiology. We found that postnatal depletion of cardiac HDAC3 in mice caused QT interval prolongation, recapitulating the EKG abnormalities reported with HDAC inhibitor use. Adult-onset inducible depletion of cardiac HDAC3 induced additional EKG abnormalities, …

Correction: Watts Et Al. Multi-Antigen Elephant Endotheliotropic Herpesvirus (Eehv) Mrna Vaccine Induces Humoral And Cell-Mediated Responses In Mice, Jessica R Watts, Jennifer L Spencer Clinton, Jeroen Pollet, Rongsheng Peng, Jie Tan, Paul D Ling

Faculty, Staff and Students Publications

The authors would like to make the following corrections to this published paper [...].

A Multiscale Computational Framework Coupling Pulmonary Arterial Blood Flow And Lung Tissue Perfusion, Nigar Sultana, Hangjie Ji, Mette Sofie Olufsen

Biology and Medicine Through Mathematics Conference

No abstract provided.

Implementation And Effectiveness Of An Enhanced Recovery Protocol For Children Undergoing Surgery: The Enrich-Us Stepped-Wedge Cluster-Randomized Trial, Mehul V Raval, Yao Tian, Willemijn Schäfer, Salva N Balbale, Mallory N Perez, Martha-Conley E Ingram, Alison Lehane, Charesa J Smith, Gwyneth A Sullivan, Audra J Reiter, Andrew Hu, Johanna M Borst, Sarah C Blake, Sharron Close, Teaniese L Davis, Bonnie S Essner, Kurt F Heiss, Lynn W Huang, Erin Wymore, Deysi Paniagua-Perez, Kirsty M Engelhardt, Peter M Graffy, Julie K Johnson, Craig W Lillehei, Brian W Gray, Seth D Goldstein, Scott S Short, Samir R Pandya, Janice A Taylor, Christopher Gayer, Adam B Goldin, Matthew M Boelig, Kristy L Rialon, Tim Jancelewicz, Aaron M Lipskar, Mubeen Jafri, Elisabeth T Tracy, Matthew T Harting, Jason P Sulkowski, P Benson Ham, Kaveh Vali, Robert A Cina, David T Schindel, Saleem Islam, Erin A Teeple, Sohail R Shah, Ankush Gosain, David H Rothstein, Megan A Brockel, Jillian Chown, Jane L Holl

Faculty, Staff and Student Publications

Importance: Despite evidence that enhanced recovery protocols (ERPs) improve outcomes in adults undergoing surgery, adoption for pediatric populations has lagged.

Objective: To assess the implementation and clinical effectiveness of a consensus-based ERP for pediatric patients undergoing elective gastrointestinal (GI) surgery.

Design, setting, and participants: A prospective type 2 hybrid implementation-effectiveness, stepped-wedge, cluster-randomized by entry date into implementation phase, trial of pediatrics patients, 10 to 18 years of age, undergoing elective GI surgery at 18 US sites from September 2019 to June 2024.

Interventions: Sites were randomized into 3 groups, each spending at least 9 months in a control phase, with …

Selective And Differential Roles Of Pvhcrh Neurotransmitters In Diet-Induced Obesity In Mice, Zhiying Jiang, Yuhan Cao, Michelle He, Cunjin Su, Runzhou Yang, Maojie Yang, Jing Cai, Hongli Li, Yuanzhong Xu, Shi-Bin Li, Hiroshi Yamaguchi, Luis De Lecea, Benjamin R Arenkiel, Qingchun Tong

The Brown Foundation: Institute of Molecular Medicine

Stress and diet are known to synergistically promote risks of obesity but the underlying neural basis remains elusive. Corticotropin-releasing hormone neurons in the paraventricular hypothalamus (PVHCRH) are stress responsive and release both CRH and glutamate. Here we generated a mouse model with gain or loss of release in CRH or glutamate from PVHCRH neurons. While these models showed no changes in body weight when fed chow, they exhibited contrasting effects when fed high-fat high-caloric diets (HFD). Whereas disrupting glutamate release from PVHCRH neurons led to diet-induced obesity (DIO), that of CRH caused no impact. Conversely, augmented CRH release led to …

A Lifecycle Governance And Learning Health System Framework For Trustworthy, Generalizable, And Sustainable Human-Ai Partnership In Clinical Practice: Lessons From The Asthma-Guidance And Prediction System (A-Gps), Chung-Il Wi, Shauna Overgaard, Momin Malik, Dave Watson, Deepak Sharma, Jennifer Le-Rademacher, Dan Kelleher, Lu Zheng, Joshua Ohde, Brian Lynch, Ashwani Khurana, Sunghwan Sohn, Mahmoud M Aljuhani, Chris Carpenter, Manuel Arteta, Jason Greenwood, Martha Hartz, Randy Foss, Elif Polat, Imad Absah, Carla Davis, Meera Gupta, Lynnea Myers, Björn Nordlund, Cui Tao, Mark L Wieland, Christi Patten, Amie Jones, Prathibha Varkey, Brenna T Loufek, David E Vidal, Nari Gopala, Eric Klee, Vijay H Shah, John D Halamka, Matthew R Callstrom, Nicholas L Rider, Hongfang Liu, Constantin Aliferis, Vesna D Garovic, Young J Juhn

Faculty, Staff and Students Publications

The integration of artificial intelligence (AI) into clinical decision support (CDS) holds promise for proactive, personalized, and precision care. However, current understanding of how to establish trustworthy human-AI partnerships is in its infancy, despite its critical importance for implementing AI in healthcare. We present the Asthma-Guidance and Prediction System (A-GPS) as a case study of a practice-integrated AI platform that demonstrates how trustworthy, generalizable and sustainable AI can be developed, evaluated, and implemented in real-world asthma care. We describe major challenges and solutions based on our real-world experience during the process and offer the practical framework, approaches, tools and workflow …

Robust Magnetoelectric Backscatter Communication System For Bioelectronic Implants, Fatima Alrashdan, Joshua E Woods, Ellie C Chen, Wendy Tan, Zhanghao Yu, Wei Wang, Mathews John, Lukas Jaworski, Drew Bernard, Allison Post, Angel Moctezuma-Ramirez, Abdelmotagaly Elgalad, Kaiyuan Yang, Mehdi Razavi, Jacob T Robinson

Faculty, Staff and Students Publications

Wireless communication technologies for bioelectronic implants enable remote monitoring for diagnosis and adaptive therapeutic intervention without the constraints of wired connections. However, wireless data uplink from millimeter-scale devices deep in the body struggles to achieve low power consumption while maintaining large misalignment tolerances. Here, we report a passive wireless backscatter communication system based on magnetoelectric transducers that consumes less than 0.3 pJ/bit and achieves less than 1E-6 bit error rate at a distance of 55 mm while tolerating a misalignment of 10 mm. Using this robust data uplink, we designed a wireless cardiac sensing node that can transmit electrocardiogram signals …

Postapproval Study For Brain-Responsive Neurostimulation For Drug-Resistant Focal Epilepsy: Three-Year Efficacy And Interim Safety Results, Dawn Eliashiv, Vikram R Rao, Barbara C Jobst, Jerzy P Szaflarski, John D Rolston, Lesley C Kaye, Taneeta Mindy Ganguly, Katie Bullinger, Patricia C Dugan, David E Burdette, Angela Y Peters, Atif Sheikh, Kevin F Haas, Dileep R Nair, Lilit Mnatsakanyan, Imran H Quraishi, Meriem K Bensalem-Owen, Rns System Pas Study, Michael J Doherty, Babak Razavi, Tiffany L Fisher, Christopher Skidmore, Pradeep N Modur, Tawnya M Constantino, Vicenta Salanova, Andrew J Cole, Olga Taraschenko, Angelica Rivera-Cruz, James W Wheless, Nitin Tandon, Antoaneta Balabanov, Sami Aboumatar, Itzhak Fried, Cornelia Drees, Hae Won Shin, Zeenat Jaisani, Stephanie E Maciver, Sanjay E Patra, Edward F Chang, Jon T Willie, Ryder Gwinn, Travis Stoub, John M Stern, Tami Crabtree, Cairn G Seale, Sharon C Mcfadden, Jacob F Norman, Lise Johnson, Martha J Morrell

Faculty, Staff and Student Publications

Background and objectives: Neuromodulation therapies are approved for the treatment of focal epilepsy based on data from randomized controlled trials (RCTs). After approval of a responsive direct brain stimulation device (The RNS System for focal epilepsy), the Food and Drug Administration required a prospective study to evaluate whether real-world safety and effectiveness differed from outcomes in the RCT.

Methods: This open-labeled study enrolled adult participants who met the RNS System-approved indication for use. The primary effectiveness end point was median percent change in seizure frequency at 3 years of treatment. Interim safety is presented; the primary safety endpoint analysis will …

Developing Antibodies Against Galectin-3 And Galectin-9 To Target Endometriosis, Ashleigh Burger, Noah Farnsworth, Jared J. Reisnouer, Cheyenne Vue

2026 Symposium

Endometriosis is a disease characterized by pelvic pain and the formation of endometrial-like tissue on the outside of the uterine lining. This condition affects nearly 10% of women across the globe and confirming whether someone has endometriosis requires visualization in surgery. While the specific causes of this disease remain unclear, the over-expression of the Galectins 3 and 9 in ectopic endometrial tissues suggests a role in the development and maintenance of the condition. Monoclonal antibodies (mAbs) are highly specific proteins with potential as diagnostic or treatment tools. The goal of this study is to generate antibodies against Gal3 and Gal9. …

The Hidden Crisis: A Rare Case Of Thyrotoxicosis In A Young Female, Mimicking Neuromuscular Disease, Ali Haider Awan, Seerat Riaz, Hafiz Muhammad Hashim Butt, Sajeela Riaz, Fnu Sameeha, Hilana Soliman Omar, Shafia Naeem, Abida Perveen, Jahanzeb Malik

Journal of Community Hospital Internal Medicine Perspectives

Thyrotoxic periodic paralysis (TPP) is a rare but life-threatening cause of acute flaccid paralysis associated with hypokalemia. Although more common in males and individuals of Asian descent, it may present atypically in young females and be easily misdiagnosed. We report a case of a 30-year-old female who presented with acute quadriparesis. Extensive neuromuscular evaluation initially pointed toward Guillain-Barré syndrome (GBS), but subsequent investigations revealed profound hypokalemia. Further workup confirmed thyrotoxicosis as the underlying cause. Prompt potassium replacement and initiation of antithyroid therapy led to complete clinical recovery. This case highlights the importance of considering both endocrine disorders and electrolyte disturbances, …

Intouch Week Of May 11, 2026, New York Medical College

InTouch

• Brian J. Nickerson, Ph.D., J.D., M.P.A., FACHE, Leads SHSP
• Welcoming the Next Generation of Humanistic Physicians
• Kaley Lectureship Examines Vascular Pathways in Alzheimer’s Disease
• Annual Louis Del Guercio Research Day Highlights Surgical Research Advances
• Teaching and Learning Symposium Highlights Innovation, Honors Academy of Medical Educators
• Understanding Women’s Health Through Systems, Policy, and Experience NYMC Community Celebrates Mental Health Awareness Month
• Neurology Alumni Gather at ANA Annual Meeting
• A Night of Music, Memories, and Celebration
• Student Spotlight: Lillian Huang, M.S. ‘21, SOM Class of 2026, Finds Purpose Through Patient Care and Research
• Student Spotlight: Antonia Schonwald, M.S., Looks Ahead to a …

Water-Soluble Fullerene Derivatives Mitigate Cranial Radiation-Induced Neuroinflammation And Cognitive Dysfunction, Naren Gundapaneni, Iona Hill, Lydia W T Cheung, Khadijeh Koushki, Alyssa Fausnaught, Phuoc Minh Quan Mai, Arjun Vasan, Prapannajeet Biswal, Ashutosh Tripathi, Anilkumar Pillai, Vijayasree V Giridharan, Tatiana Barichello, Yuri Mackeyev, Sunil Krishnan

Faculty, Staff and Student Publications

Radiotherapy is widely used to treat malignant and benign brain tumors. A major constraint, however, is the low tolerance of normal brain tissue to radiation. Cranial irradiation-induced injury manifests as inflammatory responses and neurodegeneration, which jointly contribute to progressive cognitive decline. These complications can restrict the delivery of optimal therapeutic doses, cause persistent neurological symptoms, and ultimately compromise quality of life. Thus, neuroprotective agents have emerged as a strategy to safeguard normal tissues from radiation-induced neurotoxicity. This study investigated the efficacy of a highly soluble [60]fullerene (C60) derivative, C60-ser, a carbon-based nanomaterial, to mitigate radiation-induced brain injury. Oral administration of …

Correction: Berezowski Et Al. Biomarkers In Renal Cell Carcinoma: A Systematic Review And Immunohistochemical Validation Study, Brett Berezowski, Robert Boothe, Billy Chaplin, Sharon J Del Vecchio, Zakariya Fares, Tyrone L R Humphries, Keng Lim Ng, Taylor Noonan, Hemamali Samaratunga, Aaron Urquhart, David A Vesey, Simon T Wood, Glenda C Gobe, Robert J Ellis

Faculty, Staff and Student Publications

This corrects the article "Biomarkers in Renal Cell Carcinoma: A Systematic Review and Immunohistochemical Validation Study" in volume 17, 2588.

Animal Models Of Delirium: A Narrative Review, Tatiana Barichello, Carla Sasso Simon, Diogo Dominguini, Cristiane Ritter, Tsuyoshi Nishiguchi, Gen Shinozaki, Felipe Dal-Pizzol

Faculty, Staff and Student Publications

Delirium is an acute cognitive failure characterized by an acute onset and psychomotor disturbances. It is associated with poor outcomes in hospitalized patients, resulting in prolonged hospital stays, elevated rates of mortality, and cognitive dysfunctions after hospital discharge. The pathophysiology of delirium remains poorly understood, making the development of animal models a promising avenue for researchers to elucidate the mechanisms underlying human delirium. These models not only aid in understanding the pathophysiology and etiology of the disease but also enhance the efficacy of nonpharmacological interventions and identify pharmacological therapies. This review aims to present the most relevant and translational animal …

Is2c2: A Cointelligent Platform For Mechanistic Discovery Of Disease Cellular Crosstalk, Jianting Sheng, Ju Young Ahn, Li Yang, Zhihao Wan, Shaohua Qi, Xiaohui Yu, Zhan Xu, Yuliang Cao, Matthew Vasquez, Amna Irfan, Yuanyuan Zhu, Hong Zhao, Zheng Yin, Ying Zhu, Yunfeng Ding, Alireza Faridar, Lin Wang, Fengshuo Liu, Hongxia Wang, Zhigang Ji, Dongxue Mao, Michael Chan, Daniel Kermany, Wenjuan Dong, Doo Yeon Kim, Xiang H-F Zhang, Stephen T C Wong

Faculty, Staff and Students Publications

Large language models (LLMs) have demonstrated impressive capabilities in summarization, reasoning, and content generation, yet their inability to directly interpret large-scale omics data has limited their utility in data-driven hypothesis generation-particularly in mechanism discovery that demands the integration and interpretation of multimodal datasets, heterogeneous models, and deep domain expertise. Conversely, traditional computational algorithms excel at quantitative analysis of omics data but often rely heavily on labor-intensive, expert-driven interpretation to extract biologically meaningful insights. Here, we introduce (cointelligent single-cell spatial cell‒cell communication: iS2C2), a novel cointelligent platform that synergizes mathematically rigorous computational algorithms with the contextual reasoning capabilities of LLMs to …

Natural History Of Ngly1 Deficiency: Motor Function & Clinical Features, Grace Morrison, Selina Dwight, Hal Landy, William F Mueller, Pam Ventola, Regina Deck, Becky Schweighardt, Matt Wilsey, Kevin J Lee, Bernhard Suter

Faculty, Staff and Students Publications

N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected patient population. Its core clinical features include global developmental delay, hyperkinetic movement disorders, elevation of liver transaminases, (hypo)alacrima, and progressive sensorimotor neuropathy. Due to the range of phenotypes and severity within the confirmed patient population, ongoing characterization of the disease is critical. A prospective natural history study (NHS) was conducted to further elucidate disease phenotypes and examine any changes in neurocognitive or motor function over a one-year period. Fifteen …

Blue Light Exposure, Eye Strain, And Sleep Quality: Evaluating The Effectiveness Of Blue-Light Filtering Lenses, Sara Rozalowski

Honors Capstones

This study employs a literature review to critically evaluate the benefits of blue light–filtering lenses and to determine whether their use against eye strain and toward sleep quality is supported by empirical evidence. The aim of this research is to provide evidence-based information to better inform patients regarding the clinical utility and practical applications of blue light filtration in corrective lenses.

Quantifying Black Carbon Concentrations In Georgia And Analyzing Associated Public Health Risks, Khloe R. Osborne

Honors Theses

Quantifying Black Carbon Concentrations in Georgia and Analyzing Associated Public Health Risks

One of the most daunting challenges of the industrial world is air pollution. Within this broad spectrum, there is an inhalable particle group named PM2.5, which contains black carbon. Black carbon has evidence that supports the generation and worsening of adverse health impacts, which may include birth complications, cognitive deficits in children, pulmonary aggravation, asthma, cardiovascular issues, neurological degenerative patterns, and cancer risk. This is especially seen in vulnerable populations, like children, elderly, and those who already suffer from weakened health, many of which reside in the southern …

What Is Screen Apnea And How Does It Affect You?, Kristi M. Soileau

New Orleans Dental Association News

Screen apnea is a modern epidemic of significant proportions. Research suggests that nearly 80% of people unconsciously alter their breathing, often holding their breath or breathing shallowly, while working on digital devices. This subtle shift in respiration, sometimes called “email apnea,” can place the body into a low-grade stress response without being noticed by the individual at the screen. When breathing becomes restricted from poor posting or content anxiety, the nervous system enters into a sympathetic response, much as it interprets signs of threats to that person. The resultant physiological response may be exhibited by muscle tension, mental fog, increased …

Dna Methylation Signatures Associated With Bipolar Disorder In Peripheral Blood Improve Prediction Models, Markos Tesfaye, Anne-Kristin Stavrum, Kira D Höffler, Kevin S O'Connell, Friederike S David, Melanie E Garrett, Sonia Hesam-Shariati, Bronwyn J Overs, Claudia Pisanu, Luana Spano, Oliver J Watkeys, Antoine Weihs, Rafaella Ardau, Allison E Ashley-Koch, Lavinia Athanasiu, Jean C Beckham, Kyle J Bourassa, Caterina Chillotti, Srdjan Djurovic, Ole K Drange, Josef Frank, Anouar Khayachi, Nathan A Kimbrel, Lourdes Martorell, Susanne Meinert, Ingrid Melle, Gunnar Morken, Pasquale Paribello, Marco Pinna, Gloria Roberts, Guy Rouleau, Peter R Schofield, Esteban Sepúlveda, Giovanni Severino, Vidar M Steen, Frederike Stein, Fabian Streit, Va Mid-Atlantic Mirecc Workgroup, Trine Vik Lagerberg, Martin Alda, Udo Dannlowski, Andreas J Forstner, Janice M Fullerton, Hans J Grabe, Melissa J Green, Tilo Kircher, Javier Labad, Mirko Manchia, Philip B Mitchell, Jair C Soares, Alessio Squassina, Alexander Teumer, Leonardo Tondo, Elisabet Vilella, Ole A Andreassen, Boris Chaumette, Gabriel R Fries, Stephanie Le Hellard

Faculty, Staff and Student Publications

Background: Bipolar disorder (BD) is a major mood disorder influenced by both genetic and environmental factors. While DNA methylation from peripheral tissues can reflect both genetic and environmental influences and reveal insights into disease biology, it remains understudied in BD. DNA methylation signatures may complement polygenic scores (PGS) and hold potential as biomarkers. Here, we conducted the largest epigenome-wide association study (EWAS) of BD to date and evaluated the predictive value of polymethylation scores (PMS) in classifying case-control status.

Methods: DNA methylation from peripheral blood of 1729 cases and 1747 controls, comprising twelve cohorts, was obtained. We performed meta-analyses for …

Identifying Novel Gene Dysregulation Associated With Opioid Overdose Death: A Meta-Analysis Of Differential Gene Expression In Human Prefrontal Cortex, Javan K Carter, Bryan C Quach, Caryn Willis, Melyssa S Minto, Dana B Hancock, Janitza Montalvo-Ortiz, Olivia Corradin, Ryan W Logan, Consuelo Walss-Bass, Brion S Maher, Eric Otto Johnson

Faculty, Staff and Student Publications

Only recently have human postmortem brain studies of differential gene expression (DGE) associated with opioid overdose death (OOD) been published; sample sizes from these studies have been modest (N = 40-153). To increase statistical power to identify OOD-associated genes, we leveraged human prefrontal cortex RNA-seq data from four independent OOD studies and conducted a transcriptome-wide DGE meta-analysis (N = 272). Using a unified gene expression data processing and analysis framework across studies, we meta-analyzed 20, 098 genes and found 335 significant differentially expressed genes (DEGs) by OOD status (false discovery rate <  0.05). Of these, 66 DEGs were among the list of 303 genes reported as OOD-associated in prior prefrontal cortex molecular studies (e.g., genes/gene families OPRK1, NPAS4, DUSP, EGR). The remaining 269 DEGs were not previously reported (e.g., NR4A2, SYT1, HCRTR2, BDNF). There was little evidence of genetic drivers for the observed differences in gene expression between opioid addiction cases and controls. Enrichment analyses for the DEGs across molecular pathway and biological process databases highlight an interconnected set of genes and pathways linked to orexin and tyrosine kinase receptors through MEK/ERK/MAPK signaling to affect neuronal plasticity.

Development Of Novel Plasma Proteomic Biomarkers For Cancer-Associated Thrombosis In An Advanced Cancer Cohort, Preeti, Mrinal Ranjan, Dang Pham, Juan L Bueno, Micheline M Resende, Michael E Scheurer, Christopher I Amos, Chao Cheng, Ang Li

Faculty, Staff and Students Publications

Background: Existing risk models for cancer-associated thrombosis (CAT) show suboptimal performance in selective high-risk populations with cancer. Affinity-based plasma proteomics offers a novel approach for detecting CAT risk.

Objectives: To identify plasma biomarkers for CAT using proximity extension assays in an advanced cancer cohort.

Methods: We performed a nested case-control study using the Olink Explore HT panel. The final cohort included 57 patients with CAT and 113 matched control patients from 5 selected cancer types who had samples collected between cancer diagnosis and chemotherapy initiation. Random survival forest model was used to assess nonlinear associations with CAT in 5416 normalized …

Progressive Cardiac Phenotypes And Reduced Reversibility From Long-Term Cugexp Rna Expression In A Dm1 Mouse Model, Rong-Chi Hu, Mohammadreza Tabary, Xander Ht Wehrens, Thomas A Cooper

Faculty, Staff and Students Publications

Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic, with progressive worsening of disease manifestations in affected tissues. Disease progression is attributed to somatic expansion of the CTG repeats with age, resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to increased MBNL sequestration. To determine the degree to which cardiac disease progression can occur independently of repeat expansion, we used a transgenic DM1 mouse model with inducible heart-specific expression of …

Evaluating Headache Treatment Efficacy Across Rural And Urban Emergency Departments, Logan Stacey, Alan Sazama, Benjamin Aaker

Scholarship Pathways Program

Evaluating Headache Treatment Efficacy Across Rural and Urban Emergency Departments

Logan Stacey, MD | Alan Sazama, MD, Benjamin Aaker, MD

Introduction: Headaches are a common chief complaint in emergency departments (EDs), with rural patients facing unique challenges such as geographic isolation and limited access to care. This study aims to compare treatment efficacy for this top five ED chief complaints between rural and urban EDs.

Methods: Patients treated for headaches from 2020-2023 were identified using diagnosis codes and electronic health records. Treatment plans and patient demographics were abstracted from identified charts. EDs were categorized as rural (populations under 50,000) or …

A Critically Appraised Topic: Effectiveness Of Hydrogen-Rich Water Therapies In Reducing Inflammation, Bill Craig, Dawn Hammerschmidt, Jay Albrecht

Dissertations, Theses, and Projects

Inflammation is an important part of healing, but prolonged inflammation or inflammatory disease can cause excess pain and tissue damage. Hydrogen-rich water therapies have shown to have positive effects on this wide variety of conditions and may have a role in future therapeutic intervention for inflammatory conditions and acute injury care. Hydrogen is a commonly known element that has recently been the subject of scientific studies to analyze its beneficial properties when used as a therapeutic intervention. Hydrogen is physically the smallest element on the periodic table, and when two hydrogen atoms combine to form H2, it is known as …