Medicine and Health Sciences Commons^™

Breastfeeding Promotion For Infants With Neonatal Abstinence Syndrome (Nas), Olivia Czerwonka

Evidence-Based Practice Project Reports

Neonatal abstinence syndrome (NAS) is the exposure in utero to drugs with the incidence in the United States increasing from 4 to 6.3 per 1000 births (Wei et al., 2023). The purpose of this quality improvement project was to implement a breastfeeding support intervention to increase breastfeeding frequency and reduce hospital length of stay of newborns with NAS. A tailored multicomponent guideline based upon the current Ten Steps to Successful Breastfeeding as established by WHO and UNICEF (2017) was implemented. Mothers of infants diagnosed with NAS were recruited using convenience sampling from a Northwest Indiana Hospital. Key stakeholders within the …

Frailty Is A Predictor Of Inpatient Mortality And Unplanned Icu Admission Following Early Fixation Of Intertrochanteric Fractures., Victor Koltenyuk, Jared Sasaki, Nithin Gupta, Zachary Chanmin, Ruby G Patel, Taylor Manes, Jack W Weick

Surgery Articles

Purpose: This study sought to examine the role of frailty in predicting inpatient mortality following early surgical fixation of intertrochanteric (IT) fractures.

Methods: The ACS-TQIP (2017-21) database was queried for patients with intertrochanteric fractures undergoing surgical fixation within 48 h. Frailty status was determined using the 5-item modified frailty index (mFI-5) (0 = nonfrail, 1 = prefrail, and, 2 = frail, and > 2 = severely frail). The primary end point was inpatient mortality. Secondary end points were unplanned ICU admission and thromboembolic events (DVT or PE). Significance was considered a p-value < 0.05.

Results: Frailty, as determined by the mFI-5, was …

Evaluating The Impact Of A Standardized Intimate Partner Violence Screening Tool In A Clinical Setting, Dylan Bogucki

Evidence-Based Practice Project Reports

Intimate partner violence (IPV) is defined as any act of violence, including physical, sexual, stalking, or psychological aggression by an intimate partner, former or current. Despite being preventable, IPV remains a leading nonobstetric cause of morbidity and mortality among women, which highlights the need for systematic screening in clinical settings. The purpose of this quality improvement project is to identify women who have previously experienced or are currently experiencing IPV and to connect them with appropriate resources. Twenty-one studies were identified, all demonstrating moderate to high methodological quality and supporting the need for routine IPV screening in women’s health settings. …

Restless Legs Syndrome And Neurological Comorbidities: A Narrative Review, Kyrillos Ghattas, Helen Hernandez, Yongwoon Huh, Zhanna Fast, Zhikui Wei

Department of Sleep Medicine Faculty Papers

Restless legs syndrome (RLS) is a common yet underrecognized neurological disorder characterized by uncomfortable sensations and an irresistible urge to move he legs, typically following a circadian pattern. RLS frequently co-occurs with various other neurological diseases, raising questions about shared mechanisms and clinical consequences. This review synthesizes evidence on the prevalence, outcomes, and pathophysiology of RLS in various neurological disorders, including Parkinson's disease, multiple sclerosis, migraine, dementia, stroke, epilepsy, and peripheral neuropathy. In Parkinson's disease, RLS is linked to disease progression and dopaminergic therapy. In stroke and multiple sclerosis, RLS is associated with structural lesions at specific locations, such as …

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, Michael J. Doherty, Babak Razavi, Tiffany L. Fisher, Christopher T. 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

Department of Neurology Faculty Papers

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 …

Optimal Timing Of Ventriculoperitoneal Shunt Insertion Relative To Cranioplasty Post-Decompressive Craniectomy: A Frequentist Network Meta-Analysis, Shaan Patel, Shiva A. Nischal, Kush M. Kale, Pious D. Patel, James S. Harrop, Jack Jallo, Srinivas K. Prasad

Department of Neurosurgery Faculty Papers

OBJECTIVE: Optimal timing of ventriculoperitoneal shunting (VPS) relative to cranioplasty (CP) after decompressive craniectomy remains controversial. VPS may be performed before, during, or after CP, but no consensus exists on which sequence minimizes complications. We performed a systematic review and network meta-analysis to compare the safety profiles of pre-, simultaneous, and post-CP shunting.

METHODS: We searched PubMed/MEDLINE, Embase, and CENTRAL from inception to October 2025. Eligible studies directly compared at least two timing strategies in patients undergoing both CP and VPS. Primary outcomes included overall complications, reoperation, infection, and intradural bleeding. Secondary outcomes included shunt-related and other procedure-specific adverse events. …

Comparing The Use Of Measured And Smoothed Data In Forecasting Visual Field Tests Using Deep Learning, Ashkan Abbasi, Sowjanya Gowrisankaran, Wei-Chun Lin, Xubo Song, Bhavna Josephine Antony, Gadi Wollstein, Joel Schuman, Hiroshi Ishikawa

Wills Eye Hospital Papers

OBJECTIVE: To evaluate the impact of training and testing deep learning (DL) models for visual field (VF) forecasting using input-target pairs in which the target is either the measured VF test result, or its smoothed counterpart constructed via linear regression.

DESIGN: A retrospective data analysis study evaluating DL models for VF forecasting under multiple training and testing configurations.

SUBJECTS AND CONTROLS: A total of 1400 subjects (healthy and glaucoma patients) with 19 437 reliable Humphrey VF (24-2 Swedish Interactive Threshold Algorithm) tests collected from longitudinal cohorts at the University of Pittsburgh and New York University.

METHODS: Three DL-based pointwise VF …

Multi-Grader Validation Of The Telemedicine Retinopathy Of Prematurity Severity Score, Harrison W. Pratt, Sarthak V. Shah, Cindy S. Zhao, Arthur R. Brant, Caroline R. Baumal, Cagri G. Besirli, Audina M. Berrocal, Kimberley A. Drenser, Anna L. Ells, Clio Armitage Harper, G. Baker Hubbard, Eric D. Nudleman, Polly Quiram, Irena Tsui, Edward Wood, Yoshihiro Yonekawa, Tatiana Rosenblatt, Jochen Kumm, Darius M. Moshfeghi

Wills Eye Hospital Papers

We aimed to statefully validate Retinopathy of Prematurity (ROP) grading by evaluating intergrader variability over age-matched simulated exams. In a prospective retinal photographic grading cohort study, both eyes of twenty patients with five images per eye per visit were graded by twelve expert graders across six weekly visits. For each eye visit, ROP experts graded the Zone, Stage, and Plus, from which the Telemedicine ROP Severity Score (tROP-SS) was calculated. Graders retained knowledge of prior assessments for a given eye and followed International Classification of ROP rules. Intergrader coefficient of variation (CoV) for Zone, Stage, Plus, and tROP-SS remained below …

Volume Electron Microscopy Reveals Heterogeneity Of The Hemostatic Response In Veins And Arteries, Maurizio Tomaiuolo, Meghan E. Roberts, Jenna R. Severa, Christopher D. Mansi, Brenna B. Y. Mathers, Anna Mannix, Trace A Christensen, Lawrence F Brass, Talid Sinno, Timothy J. Stalker

Cardeza Foundation for Hematologic Research

Intravital imaging studies have provided insights into the spatial and temporal variations of platelet activation and thrombin generation that occur during hemostasis; however, these studies are generally limited to small vessels due to the practical limitations of imaging in thicker tissues. Recent advances in cleared tissue fluorescence imaging as well as volume electron microscopy (vEM) coupled with machine learning-based image segmentation provide an opportunity for analysis of the 3-dimensional structure of complex tissues. We utilized these technologies to examine hemostatic plugs from murine jugular veins and carotid arteries to investigate the spatial distribution of platelet activation and biochemical responses in …

Development And Psychometric Analysis Of An Instrument To Assess Social Stigma Associated With Parkinson's Disease, Ana Lourdes Guerra-Anzaldo, Arturo Emmanuel Espinosa-Picos, Karen Itzel Sánchez-Ramírez, Ana Jimena Hernández-Medrano, Amin Cervantes-Arriaga, Ariadna Domínguez-García, Mayela Rodríguez-Violante

Journal of Patient-Centered Research and Reviews

Purpose: To develop and report the psychometric properties of a comprehensive scale designed to measure stereotypes and attitudes of the general population towards people with Parkinson’s disease (PwP).

Methods: The development and analysis of the Parkinson's Disease Stigma Perception scale (PDSP) included four phases: 1) literature review, 2) item development, 3) tests of validity and reliability, and 4) dissemination of a preliminary version. Internal consistency was assessed using Cronbach's alpha, exploratory factor analysis (EFA) to explore underlying structures, and confirmatory factor analysis to test the model's fit.

Results: Six (2%) of the 294 survey respondents were disqualified because of incomplete …

Neuroplasticity And Hippocampal Impacts Associated With Obstructive Sleep Apnea, Rumaysa Aliniazee

COD Library Student Research and Award Symposium

A review on the implications of Obstructive Sleep Apnea (OSA) and Hippocampal Brain Health. It explores the role of sleep medicine, its effect on the hippocampus, its influence on cognitive function, and emphasizes the need for continued research and intervention to preserve cognitive health.

Faculty Sponsor:  Professor Felipe Armas

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. …

Adrenal Crisis Induced-Seizures: A Case Report And Literature Review, Israel Umoh, Elizabeth Mikhail, Narjis Batool, Nosheen Hajra, Ibrahim Al-Sanouri

Journal of Community Hospital Internal Medicine Perspectives

This case report underscores the critical interplay between adrenal crisis and seizure activity, emphasizing the importance of rapid recognition and management of this life-threatening condition. Adrenal crisis, characterized by severe hypotension and electrolyte disturbances, often manifests with nonspecific symptoms such as fatigue, nausea, and altered consciousness, which can obscure diagnosis, especially in pediatric and young adult populations. The report details a 21-year-old female with a complex endocrinologic background who developed seizures precipitated by an adrenal crisis triggered by gastroenteritis and compounded by medication noncompliance. Clinical findings included profound dehydration, electrolyte abnormalities, refractory hypotension, and low cortisol levels, which responded favorably …

Pediatric Burns: Severity, First Aid, And When To Refer, Mike Smith, Pablo Aguayo

Pediatrics in Practice: A CME Podcast

This episode explains burn depth, TBSA estimation, and practical first aid that reduces complications—essential for pediatricians and ER providers who triage children with burns. Pablo Aguayo, MD (Children’s Mercy) walks through burn classification (superficial to fourth-degree), scald burns, and American Burn Association referral criteria. Keywords: pediatric burns, burn severity, burn first aid, scald injuries, TBSA, burn center referral. For more resources and show notes, visit the Pediatrics in Practice CME Podcast page and subscribe for updates.

Click here to stream the podcast episode.

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 …

Value Of The Non-Enhanced Cardiac Computed Tomography Scan Analysis In Determination Of The Appropriate Coronary Ct Angiography Scan Protocol Improving Image Quality While Minimizing Radiation, Osama A Smettei, Sawsan A Sayed, . Fatin M Ahmed, Tawfeeq H Alharbi, Mohammed Saied, Rami M Abazid

Journal of the Saudi Heart Association

Objective: Coronary computed tomography angiography (CCTA) is a cornerstone in the assessment of coronary artery disease. Despite technological advancements, balancing radiation does with diagnostic image quality remains a challenge. This study evaluates whether assessing preliminary non-enhanced CT scans allows for the optimization of CCTA gating protocols to enhance image quality and minimize radiation exposure.

Methods: We prospectively analyzed 150 patients undergoing CCTA on a 256-slice scanner. Non-enhanced scans were used to identify motion artifacts or anatomical challenges. Based on these findings, a specific gating protocol (prospective, prospective with padding, or retrospective) was selected. This cohort was compared to a …

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.

Care, Control, And The Racial Regulation Of Black Women’S Reproduction In American Medicine, Rheya K. Wilk

Honors Thesis

Black women in the United States continue to experience disproportionately high rates of maternal mortality, negative reproductive healthcare experiences, and documented disparities in medical treatment. From slavery through the twenty-first century, American medicine has repeatedly positioned Black women’s reproduction as a site of regulation, rather than care, making medical mistrust among Black women a rational response to a long history of institutional conflict embedded in American medicine. Drawing on medical history and bioethical analysis, this thesis traces reproductive abuse across distinct, yet connected, eras. Beginning with antebellum gynecological experimentation on enslaved women, it demonstrates how racialized assumptions about pain and …

Risk Of Late Recurrence Of Colorectal And Breast Cancer Among Older Long-Term Cancer Survivors., Faiza Yasin, Sarah J. Westvold, Jessica B. Long, Terry Hyslop, Michael Cecchini, Ira Leeds, Andrea Silber, Shi-Yi Wang, Lisa Spees, Rebecca Forman, Tendai Kwaramba, Melissa Taylor, Cary P. Gross, Michaela A. Dinan

Kimmel Cancer Center Papers, Presentations, and Grand Rounds

BACKGROUND: A growing population of older adult cancer survivors faces competing cancer and noncancer health risks. There are limited real-world data on recurrence patterns beyond 5 years post-treatment.

METHODS: This was a SEER-Medicare retrospective cohort study of patients aged ≥66 with stage I-III breast, colon, or rectal cancer who received definitive surgery and survived ≥5 years from diagnosis without recurrence or second primary malignancy. Late recurrence (5-10 years postdiagnosis) was identified using a validated algorithm to detect treated recurrence in Medicare claims. Demographic and clinical characteristics collected at cancer diagnosis were assessed as predictors of late treated recurrence using restricted …

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 …

Enhancing Pediatric Resident Trauma Education In The Pediatric Emergency Department, Dina Nassar, Elizabeth Kurian

St. Chris Research Day

No abstract provided.

Reducing Use Of Computed Tomography For Diagnosing Appendicitis In A Pediatric Emergency Department, Sharmaine Ross

St. Chris Research Day

No abstract provided.

Case Study Of Influenza-Associated Acute Necrotizing Encephalitis Complicated By Atypical Hemolytic Uremic Syndrome, Hasnain Bherwani, Abhijeet Pal

St. Chris Research Day

No abstract provided.

Quantifying Patient Positioning Errors And Radiation Dose Variation In Cardiac Computed Tomography Angiography, Yasser H. Hadi, Hassan B. Hawsawi, Niamh Moore, Helle Precht, Andrew England, Mark Mcentee

Journal of the Saudi Heart Association

Objectives: Accurate patient centring at the computed tomography (CT) scanner isocentre is essential for optimising radiation dose. This study aimed to quantify positioning errors, assess their relationship with radiation dose, and estimate the potential dose reduction achievable with optimal centring. Methods: This retrospective observational study included adult patients (≥18 years) who underwent electrocardiography (ECG)-gated cardiac CT angiography between January 2023 and July 2025 at a tertiary hospital. Scans were performed using Siemens SOMATOM Force dual-source CT systems. Vertical and lateral deviations from the scanner isocentre were calculated from scout images using integrated analytics within the institutional dose monitoring platform (Qaelum …

Inflammatory Markers In The Emergency Department And Ptsd Symptoms In The Aurora Study: A Longitudinal Cohort Study, Kristen Nishimi, Sarah Linnstaedt, Thomas Neylan, Lauren Mckibben, Liz Marie Albertorio-Sáez, Ying Zhao, Stacey House, Francesca Beaudoin, Xinming An, Jennifer Stevens, Gari Clifford, Tanja Jovanovic, Laura Germine, Scott Rauch, John Haran, Alan Storrow, Paul Musey, Phyllis Hendry, Sophia Sheikh, Brittany Punches, Robert Swor, Jose Pascual, Mark Seamon, Elizabeth M Datner, Claire Pearson, David Peak, Roland Merchant, Robert Domeier, Niels Rathlev, Brian O'Neil, Paulina Sergot, Leon Sanchez, Steven Bruce, Steven Harte, Ronald Kessler, Karestan Koenen, Kerry Ressler, Samuel Mclean, Aoife O'Donovan

Department of Emergency Medicine Faculty Papers

BACKGROUND: Systemic inflammation is hypothesized to contribute to post-traumatic stress disorder (PTSD) vulnerability. Few studies have examined inflammation shortly after trauma as a predictor of later PTSD symptoms. We examined whether inflammation from the emergency department (ED) post-trauma is associated with PTSD symptom severity over the following 6 months.

METHODS: Our sample included 742 AURORA participants, a longitudinal cohort of patients in 29 EDs across the United States after a traumatic stressor, followed up to 6 months. Plasma cytokines were assessed from a study blood draw in the ED: an inflammatory index (standardized sum of generally pro-inflammatory markers interleukin [IL]-6, …

Comparative Effectiveness Of Low Versus High Dose Upadacitinib As Maintenance Treatment In Patients With Ulcerative Colitis: A Real-World Cohort Study From The United States, Priya Sehgal, Gursimran S. Kochhar, Harpreet Kaur, Himsikhar Khataniar, Raina Shivashankar, James D. Lewis, Aakash Desai

Division of Gastroenterology and Hepatology Faculty Papers

BACKGROUND: There is limited real-word data comparing efficacy of low dose upadacitinib (UPA) to high dose UPA as maintenance therapy for ulcerative colitis (UC).

METHODS: This was a retrospective cohort study utilizing the U.S. Collaborative Network in adults ≥18 years old with UC who initiated UPA 15 mg compared to 30 mg for maintenance therapy between April 2022 and December 2023. The primary outcome was a composite of intravenous steroid use, oral steroid use, or colectomy from 12 to 60 weeks from the index UPA prescription. Propensity score matching (PSM) was performed for demographics, co-morbid conditions, laboratory, and IBD medication …

Modalities Of Vision Restoration In Optic Neuropathies And Retinal Disease, Batsheva Rubin, Fabio Lavinsky, Rachel Cain, Ajay E. Kuriyan, Gadi Wollstein, Ronald Zambrano, Joel Schuman

Wills Eye Hospital Papers

Visual impairment affects over 250 million people globally and carries a significant psychosocial and economic burden. In recent years, rapid advancements in biomedical engineering and regenerative medicine have driven the development of innovative therapies aimed at restoring visual function. Here, we first provide an overview of the visual pathway, imaging modalities, and the psychosocial and economic burden of vision loss. Then we review four vision restoration approaches: gene and stem cell therapies, optogenetics, retinal prosthetic devices, and visual pathway electrical stimulation. For each therapeutic approach, the mechanism of action, clinical outcomes, adverse events, and current limitations are discussed. Stem cell …

Prevalence Of Adverse Events Following T-Cell Redirecting Therapies In Patients With Metastatic Castration-Resistant Prostate Cancer: A Pooled Analysis, Abhiraj Saxena, Marc Yorker, Nicholas Zorko, Vivek Narayan, Bilal Siddiqui, Biren Saraiya, William Tester, Patrick Mille, Amy Shaver, Nikita Nikita, Grace Lu-Yao, W. Kevin Kelly, Kevin K. Zarrabi

Department of Medical Oncology Faculty Papers

BACKGROUND: T-cell redirecting therapies, including T-cell engagers (TCEs) and Chimeric Antigen Receptor T-cell (CAR-T), are under investigation in metastatic castration-resistant prostate cancer (mCRPC). Despite their promising therapeutic potential, these therapies remain in early stages of development due to treatment-related adverse events (TRAEs). This study aims to quantify the frequency and severity of adverse events in clinical trials with a pooled analysis.

MATERIALS AND METHODS: A systematic search of PubMed, CINHAL, Scopus, and Ovid was conducted to identify clinical trials evaluating TCEs or CAR-T in patients with mCRPC. Types and frequencies of TRAEs were collected and analyzed using a random-effects model. …

Values-Based Clinical Ethics: A New Model Of Health And Ethics Consultation For Patients Suffering In Extremis, Adam Trainer

Electronic Theses and Dissertations

This dissertation argues that contemporary clinical ethics is inadequately equipped to support patients suffering in extremis because it relies on an insufficiently discriminating account of health and a constrained model of moral reasoning. Drawing on Bernard Lonergan, it reconceives health as an emergent, multi-layered, heuristic notion shaped by biological, psychological, social, and existential goods. On that basis, it critiques principlism’s global applicability thesis and the undergirding claim that its principles form part of the common morality, arguing that this justificatory structure is philosophically insufficient and practically limited for clinical ethics in cases marked by profound suffering, moral plurality, and normative …

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 …