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Analysis Of Alternative Gene Splicing Of Natural Killer Cell Exhaustion Markers During Siv Infection, Soledad B. Zayas

Honors Undergraduate Theses

Natural killer cells play a critical role in the innate immune response against Human Immunodeficiency Virus and Simian Immunodeficiency Virus infections. During HIV/SIV infection, NK cells undergo functional impairment characterized by an imbalance between activating and inhibitory surface receptors. The upregulation of inhibitory receptors, TIGIT and TIM-3, has proven to contribute to NK cell exhaustion during different retroviral infections. Although alternative splicing regulates immunity related genes, its role in TIGIT and TIM-3 expression during SIV infection remains poorly understood. This study aimed to characterize alternative splicing patterns of TIGIT and TIM-3 and evaluate transcript variant expression during SIV infection in …

Enteral Nutrition Guidelines Improve Critically Ill Patients’ Outcomes: A Quasiexperimental Study, Marwa Abdo, Sara Elsayed Hegazy

Nursing

Background: Optimal nutritional support is a fundamental element of treatment for critically ill patients. Adherence to evidence-based enteral nutrition guidelines is essential to promote patient care and prevent potential complications. Objectives: To assess the effectiveness of enteral nutrition guidelines in improving critically ill patients’ outcomes. Method: A quasiexperimental study evaluated 68 critically ill patients divided into 2 groups. The intervention group received their nutrition based on the evidence-based enteral nutrition guidelines, while the control group received their nutrition based on the unit’s routine care. The study was conducted in the surgical intensive care units of Mansoura Emergency Hospital in Egypt. …

A Case Of Median Raphe Cysts In 8-Year-Old Male, Christina Guo, Marshall Hall, Garrett Furth, Henry Lim, Olivia Gruver, Dustin Wilkes, Stephen E. Weis

North Texas GME Research Forum 2026

Background: The median raphe cyst is a rare, benign, congenital condition characterized by small, fluid-filled cysts that develop along the ventral midline of male external genitalia. These cysts are usually asymptomatic during infancy and childhood but tend to grow in size as the patient grows. These can become cosmetically concerning or symptomatic due to swelling, irritation, and discomfort. They may also present social and psychological stress to patients and families. We present a case of median raphe cysts in an 8-year-old male.

Case Presentation: An 8-year-old male without a prior medical history who presented to dermatology for penile lesions. He …

Excision Followed By Standing Cone Deformity Repair Is Tissue Conservative, Henry Lim, Christian Scheufele, Marshall Hall, Stephen Weis, Dustin Wilkes

North Texas GME Research Forum 2026

Introduction Elliptical excisions are the most common method to treat benign and malignant tumors in dermatologic surgery. This standardized design is traditionally 3 to 4.5 times longer than the excisional width to prevent unsightly protrusions of skin after primary closure, known as “standing cone,” “Burow’s triangles” or “dog ear” deformities. This results in a scar significantly longer than the original tumor that may be less easily concealed.

Objective To compare the final repair length of a tissue conservative method to remove skin tumors and close resultant defects against predicted repair length of traditional elliptical excision.

Methods Eighteen cases are presented …

Inpatient Dermatology: Dermatology Consults At Medical City Fort Worth, Olivia Gruver, Marshall Hall, Henry Lim, Christina Guo, Garrett Furth, Stephen E. Weis, Dustin Wilkes, Michael Carletti

North Texas GME Research Forum 2026

Background: Inpatient dermatology is an important yet evolving field. There has been a linear decrease in the number of dermatologists providing inpatient care and in the number of medical centers with an inpatient dermatology service. Medical centers with inpatient dermatology services are unevenly distributed geographically, with most in larger metropolitan areas. There is still a great need for dermatologic expertise in the inpatient setting. We aim to examine the utility of the dermatologic consult service, including the most common chief complaints and conditions that prompted consultation over four months at Medical City Fort Worth.

Methods: This was a retrospective chart …

Modeling Inherited Retinal Disease In Zebrafish, Meet Patel

Theses and Dissertations--Biology

Inherited retinal diseases (IRDs) affect millions of people worldwide. Majority of IRDs are caused by degeneration of rod and cone photoreceptor cells (PRCs) due to gene mutations. The overarching goal of my dissertation is to model and evaluate the molecular role of various gene candidates involved in IRDs such as cone rod dystrophy (CRD) and retinitis pigmentosa (RP).

Mutations in CDHR1, a photoreceptor specific cadherin have been associated with CRD and recapitulated in mouse CDHR1 knockouts. However, the molecular function of CDHR1 remains unknown. CDHR1 has been shown to localize at the leading edge of murine rod nascent outer segment …

Implementing An Evidence-Based Wound Care Protocol For Inpatient End-Of-Life Residents That Aligns With Hospice Comfort Care Goals, Oge C. Okeke

Doctor of Nursing Practice Final Project Abstract

Implementing an evidence-based wound care protocol for inpatient end-of-life residents that aligns with hospice comfort care goals.

Purpose

This quality improvement (QI) project aimed to adopt a patient-centered, comfort-focused approach to wound care at the DNP project site and improve patient outcomes by increasing nursing staff's knowledge of evidence-based wound treatment strategies by 20%.

Background

Curative treatments involving aggressive methods do not align with hospice principles. Residents at the project site experience increased suffering at the end of life because of limited nursing knowledge of evidence-based, atraumatic wound care practices for end-of-life patients.

Results

Pre-intervention nursing knowledge survey scores ranged …

Improving Prostate Cancer Patients’ Experience And Understanding With A Pre-Ct Simulation Checklist In Genitourinary Radiation Oncology, Christopher Le

Doctor of Nursing Practice Final Project Abstract

Improving Prostate Cancer Patients’ Experience and Understanding With a Pre-CT Simulation Checklist in Genitourinary Radiation Oncology

Purpose

The purpose of this quality improvement (QI) project was to implement a Pre-CT Simulation checklist for Prostate cancer patients in the outpatient Radiation Oncology Genitourinary clinic to improve patients’ experience and comprehension on their Simulation Day.

Background

The CT simulation is a critical step in treatment planning. Lack of clear, concise, consistent instruction and education preparation prior to simulation day can delay planning and treatment. Currently, there is no standardized checklist to ensure patients are educated and prepared for their CT simulation day. …

Implementing A Standardized Diabetic Retinopathy Screening And Education Protocol In An Optometry Clinic: A Quality Improvement Project, Jadaven Edmond

Doctor of Nursing Practice Final Project Abstract

Abstract

Purpose: The purpose of this quality improvement project was to improve adherence to standardized diabetic retinopathy screening among adults with diabetes at an outpatient optometry practice in the Greater Houston area.

Background: Diabetic retinopathy (DR) is a leading cause of preventable blindness among adults in the United States. The American Diabetes Association recommends annual dilated eye examinations for all patients with diabetes; however national adherence rates remain at only 50–60%.

Methodology: A 12-week quality improvement initiative was implemented using the Plan-Do-Study-Act model. Interventions included staff education, EHR prompts for the diabetic eye-care protocol, pre-visit identification of patients with diabetes, …

The Weight Of Stigma, Rebekah A. King, Michael S. Sinha

All Faculty Scholarship

Many health care providers, both implicitly and explicitly, perpetuate stigma in their treatment of patients classified as obese. While medical professionals understand that a one-size-fits-all approach to treatment is ineffective, patients classified as obese are frequently offered limited treatment options that fail to account for their unique needs. Access to a range of effective treatment options has historically been limited, but new GLP-1 receptor agonist medicines like Wegovy (semaglutide) and Zepbound (tirzepatide), have shown incredible promise in addressing the obesity crisis. Unfortunately, these transformative drugs are costly, in high demand, and not widely covered by insurance, rendering them inaccessible for …

Directional Association Between Irritable Bowel Syndrome And Dermatological Disease: A Large-Scale Retrospective Study, Alex Y. Liu, Naomi T. Matsuno, Houston Nelson, David Johnson, David Pariser

Department of Medicine Faculty Publications

Background/Objectives: Microbial dysbiosis is implicated with a pathogenic role in both irritable bowel syndrome (IBS) and several dermatological conditions. Yet, few studies have assessed a potential overlapping epidemiologic association. We aimed to assess the 1-year prevalence of common dermatologic conditions following an initial IBS diagnosis and to evaluate the reverse association using reciprocal analyses. Methods: We conducted a retrospective study using TriNetX. Patients aged 18–50 with no history of inflammatory bowel disease, celiac disease, or infectious intestinal disease were matched 1:1 to healthy controls by demographics and comorbidities. The primary outcome was the prevalence of acne vulgaris, psoriasis, …

A Fishy Situation: Hand Infection Due To Mycobacterium Marinum Mistaken For Giant Cell Tumor, Alynna Knaub, Dylan Baker, Jennifer Hanrahan

Department of Medicine Faculty Publications

Mycobacterium marinum is an acid-fast bacterium (AFB) associated with exposure to water and aquatic species. When inoculated, infection can result in nodular cutaneous lesions. In the absence of detailed history or culture data, these nodular skin lesions can be mistaken for noninfectious orthopedic conditions. We present a case of M. marinum mistaken for a giant cell tumor. This case illustrates the overlap in these conditions, as well as the utility of QuantiFERON Gold testing to provide supportive evidence for the diagnosis of Mycobacterium marinum.

Criterion Validity Of The Functional Status And Pain Assessment Scale Versus Pain And Length Of Stay In Hospitalized Adults With Scd, Wally R. Smith, Daniel M. Sop, Yue May Zhang, Margaret S. Guy, Rehan Qayyum

Department of Medicine Faculty Publications

Objectives

In prior research we demonstrated face, construct, discriminant, and preliminary convergent validity of the newly developed, 10-item Functional Status Pain Assessment (FSPA) scale (0-50) in adult SCD patients hospitalized with VOC. We aimed in this study to further demonstrate criterion validity of the FSPA.

Methods

This was a prospective observational study of 561 daily functional and pain assessments from 91 hospitalized adults with SCD from January 2018 to June of 2019. Principal Component Analysis (PCA) Partial Least Squares (PLS) models determined the relationship between LOS, pain intensity, and FSPA. A Generalized Linear Model (GLM) to quantified the impact of …

Educational Case: Meningioma, Ashley M. Carter, Harrison Dai, Harrison Klause, Alberto Musto, Richard M. Conran

Department of Medicine Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.

Aggressive Natural Killer Cell Leukemia: A Rare And Rapidly Progressive Hematologic Malignancy—Case Report And Literature Review, Jennifer Priessnitz, Ali Hariri, Yuliya Levkiavska, Kyle E. Bonner, Stephan I. Fisher, Joshua M. Sill

Department of Medicine Faculty Publications

Aggressive natural killer cell leukemia (ANKL) is a rare, fulminant hematologic malignancy characterized by neoplastic proliferation of mature NK cells. It is frequently associated with Epstein-Barr virus (EBV) infection, although EBV-negative cases have also been reported. While typically observed in young to middle-aged adults of East Asian descent, increasing recognition has led to identification of ANKL across diverse age groups and ethnicities. The disease is defined by a rapid clinical course and poor prognosis, underscoring the importance of early diagnosis and effective treatment. We present a case of a 71-year-old Caucasian male who developed fever, altered mental status, hepatosplenomegaly, pancytopenia, …

Ultra-Processed Foods And The Cardiovascular-Kidney-Metabolic Continuum: Integrating Epidemiological, Multi-Omics, And Translational Evidence, Saiful Singar, Amirhossein Ataei Kachouei, Leandro Lantigua-Somoano, David Manley, Anthony Cardinale, Muhammad Zulfiqah Sadikan, Saurabh Kadyan, Donya Shahamati, Lorena Dias, Amber Wood, Cinthia Chavarria, Sara K. Rosenkranz, Neda S. Akhavan

Department of Medicine Faculty Publications

Cardiovascular-kidney-metabolic (CKM) syndrome integrates excess adiposity, metabolic dysfunction, kidney impairment, subclinical cardiovascular diseases, and clinical events along a staged continuum that invites unified prevention and treatment. Ultra-processed foods (UPFs) are a complex, high-prevalence exposure that may influence risk across CKM stages through nutrient profiles, additives, processing-induced compounds, and packaging-related contaminants. This review synthesizes epidemiologic, mechanistic, and translational evidence with attention to exposure definition and analytic rigor. We summarize NOVA-based UPF operationalization across dietary assessment tools, highlighting misclassification of mixed dishes, brand heterogeneity, and energy under-reporting, and we propose further examination of energy-adjusted models, calibration, and harmonized metrics. Observational studies consistently …

Insurance Disparities In Hidradenitis Suppurativa: A Comprehensive Review Of Demographics, Outcomes, And Access To Care, Alim Osman, Alexandra R. Nigro, Michael C. Povelaitis, Marc Z. Handler

Department of Medicine Faculty Publications

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that disproportionately affects women, African Americans, and individuals of biracial descent. It is associated with substantial physical and psychiatric morbidity, reducing quality of life.

Objective: This review analyzed disparities in treatment outcomes, disease progression, and healthcare access among HS patients based on insurance type.

Methods: Using PRISMA guidelines, a comprehensive literature search identified 7 studies meeting inclusion criteria. Owing to data heterogeneity, studies were qualitatively analyzed.

Results: Findings consistently demonstrated that Medicaid patients experienced worse outcomes than those with private insurance or Medicare. Medicaid patients had higher rates of comorbid …

Open Transatrial Valve-In-Mitral Annular Calcification Mitral Valve Replacement With An Autologous Anterior Leaflet Sealing Skirt, Omar Saleh, Nicholas Valle, Rishab Agarwal, Israa Saleh, Joshua Dolsen, Connor Mckechnie, Dhruvi Patel, Deepak R. Talreja, Matthew R. Summers, Christopher M. Sciortino

Department of Medicine Faculty Publications

[Central Message] In patients undergoing ViMAC, surgical fixation of the native anterior mitral leaflet to a BEV cuff creates an autologous seal, reducing risk of paravalvular leak and neo-LVOT obstruction.

Micro- And Nanoplastics: A Paradigm Shift In The Pathogenesis Of Inflammatory Bowel Disease, Michael Saadeh, Priyata Dutta, Gordon Hong, Edward Oldfield, David A. Johnson

Department of Medicine Faculty Publications

Micro- and nanoplastics (MNPs) are pervasive environmental contaminants with growing recognition as potential contributors to human disease. Widespread human exposure occurs primarily through ingestion of contaminated food and water, and MNPs have been detected in multiple human tissues, including the gastrointestinal tract. Experimental evidence provides a plausible biological basis for disease associations, including impairment of intestinal barrier integrity, activation of mucosal immune pathways, and alteration of gut microbial communities caused by MNP exposure. Although human data remain limited, early studies demonstrate MNP detection in stool and suggest potential correlations with inflammatory biomarkers such as fecal calprotectin. These findings, together with …

Seasonal And Geographic Patterns Of Gastroschisis In Canada: Protective Effect Of Periconceptional Sunlight Exposure, Shiliang Liu, Shin Jie Yong, Dunjin Chen, Gavin C. Hughes, Claude L. Hughes

Department of Medicine Faculty Publications

Background: Gastroschisis is a right-sided, full-thickness defect with extra-amnionic herniation of abdominal contents directly into the amniotic cavity. The causes of gastroschisis remain obscure. We hypothesized that limited periconceptional sunlight exposure might lead to insufficient vitamin D during fetal development and play a role in gastroschisis etiology.

Methods: We conducted a population-based cohort study of infants conceived in Canada between April 2006 and March 2020. We used winter months (i.e., November and December) and northern geographic latitudes as indicators of insufficient sunlight exposure, while summer months (July and August) and southern geographic latitudes were considered as reference. We examined the …

Frequent Emergency Department Utilization And Syphilis Case Profiles In The Sentara Healthcare System: A Retrospective Cross-Sectional Analysis In Hampton Roads, Martina Zamponi, Grace M. Tillotson, Chandler F. Knox, Mackenzie Tardif-Kunk, Thomas R. Campbell, Peter A. Mollica

Department of Medicine Faculty Publications

Background

Syphilis rates have increased substantially nationwide, disproportionately affecting marginalized populations and individuals with differing patterns of healthcare utilization. The Hampton Roads region of Virginia and North Carolina includes multiple jurisdictions with syphilis rates above the CDC screening threshold, with 7 of its 9 independent cities meeting this criterion. However, no prior study has examined the relationship between emergency department (ED) utilization patterns and documented syphilis diagnoses in this region.

Methods

A retrospective cross-sectional analysis of the Sentara Healthcare network was conducted using aggregate data from the TriNetX platform. Patients diagnosed with syphilis between 2023 and 2024 were stratified by …

Association Of Valvular Disease Progression Using Echocardiographic Findings In A Large U.S. Cohort, Abes A. Bautista Neughebauer, Amin Yehya, Raymond L. Benza, Deepak Talreja

Department of Medicine Faculty Publications

Background

The prevalence of valvular disease in the US is approximately 2.5%. Given that over 5 million Americans are affected, it is crucial to find those at higher risk of progression. The goal of this paper is to uncover which patients are more likely to have valvular disease progression using demographic factors, EKG and echocardiogram (ECHO) findings.

Methods

This paper utilized the EchoNext Database, which pairs 100,000 electrocardiograms and echocardiograms based on specific structural heart disease labels. Univariate and multivariate logistic regression were used to find risk factors for progression for aortic stenosis (AS), aortic regurgitation (AR), mitral regurgitation (MR), …

When Unilateral Leg Swelling Is Not Deep Vein Thrombosis: A Case Of Disseminated Kaposi Sarcoma Revealing Advanced Human Immunodeficiency Virus, Ahmed Ismail, Zachary Wilson, Thomas Currow, Michael Dileonardo, Carsten Kirby

Department of Medicine Faculty Publications

Kaposi sarcoma (KS) is an acquired immunodeficiency syndrome (AIDS)-defining malignancy that can involve the skin, lymph nodes, and visceral organs in patients with advanced human immunodeficiency virus (HIV). We report the case of a 35-year-old man with no known prior medical history who presented to the charity care clinic complaining of recurrent thrush and two weeks of progressive right lower extremity swelling. His physical examination revealed painful, pruritic violaceous papules and plaques over the proximal right thigh that had been present for one week. He was referred to the emergency department (ED) for further workup. Venous duplex ultrasonography was negative …

Transatrial Balloon-Expandable Valve Implantation For Severe Mitral Annular Calcification With Native Leaflet Sealing, Omar Saleh, Rishab Agarwal, Israa Saleh, Nicholas Valle, Joshua Dolsen, Raymond L. Benza, Deepak R. Talreja, Clinton D. Kemp, Matthew R. Summers, Christopher M. Sciortino

Department of Medicine Faculty Publications

Background: Severe mitral annular calcification (MAC) limits mitral intervention options. Transseptal valve-in-MAC (ViMAC) transcatheter mitral valve replacement (TMVR) risks neo-left ventricular outflow tract (neo-LVOT) obstruction and paravalvular leak, while surgical replacement requires extensive annular reconstruction.

Case Summary: We report 3 high-risk patients with severe MAC (computed tomography [CT]-based MAC scores 7-10) who underwent open transatrial valve-in-MAC TMVR via a balloon-expandable valve after CT-based simulation and multidisciplinary heart review identified increased risk of valve malapposition or neo-LVOT obstruction precluding transseptal approach. Native anterior mitral leaflet tissue was preserved, everted, and fixed to the bioprosthetic valve cuff, creating a seal to address …

Regional Pain Is Associated With Functional Performance In People With Parkinson's Disease, Ryan P. Duncan, Monica R. Hendricksen, Luke Ekdahl, Kevin Smaller, Benjamin Friedman, Miriam R. Rafferty

Department of Medicine Faculty Publications

Background and Purpose:

Little is known about how pain influences physical function in people with mild Parkinson disease (PwPD). The purpose of this study was to investigate the association between physical function and pain presence, location, and intensity in PwPD who were evaluated in an early physical therapy program.

Methods:

Retrospective cross-sectional analysis of electronic medical records from patients with PD evaluated at a single center (2016-2023). Pain presence, location, and intensity (0-10 scale) were recorded at the initial physical therapy evaluation. Functional outcomes included 5-time sit-to-stand, 10-meter walk test, 6-minute walk test, timed up and go, mini-BESTest, and Functional …

Metabolic Dysfunction-Associated Steatotic Liver Disease And Circadian Rhythm: Current Understanding And Implications For Future Therapeutic Interventions, William K. Slover, Ashley V. Huang, Steve M. D'Souza, Edward C. Oldfield, David A. Johnson

Department of Medicine Faculty Publications

Metabolic dysfunction-associated steatotic liver disease (MASLD), defined by the American Association for the Study of Liver Diseases as hepatic steatosis with at least one cardiometabolic risk factor, affects approximately 30-40% of adults worldwide. This condition may progress to fibrosis, cirrhosis, and hepatocellular carcinoma. The rising prevalence, alongside obesity and type 2 diabetes, underscores the need for early risk stratification and integrated therapeutic strategies. Circadian homeostasis, orchestrated by the suprachiasmatic nucleus and core clock gene feedback loops, synchronizes hepatic metabolic pathways with environmental light-dark cycles. The objective of this review is to evaluate the role of circadian disruption and metabolic dysfunction …

Differential Impact Of Catheter Ablation Across Heart Failure Phenotypes In Atrial Fibrillation: A Grade Assessed Systematic Review And Meta-Analysis, Faizan Ahmed, Ayesha Zulfiqar, Mohamed Nasser Elshabrawi, Omama Ayatullah, Sheraz Qasim, Hira Sarfraz, Haris Bin Tahir, Faseeh Haider, Maryam Fatima, Syed Ahmed Ali Shah, Ameema Kaleem, Muhammad Taha Altaf, Muhammad Bin Aslam Zahid, Nazila Dalir, Manal Zia, Amro Taha, Abdul Qadeer, Bhavin Patel, Khurram Arshad

Department of Medicine Faculty Publications

Introduction: Atrial fibrillation (AF) is highly prevalent in heart failure (HF) and is linked to increased mortality and hospitalization in both preserved (HFpEF) and reduced ejection fraction (HFrEF). Catheter ablation (CA) has emerged as an effective rhythm-control strategy beyond medical therapy (MT), but phenotype-specific differences remain unclear. We compared the efficacy and safety of CA versus MT in AF with HFpEF or HFrEF.

Methods: PubMed, Embase, Scopus, and Cochrane databases were searched through December 2025. Random-effects meta-analyses were conducted in R (version 4.5.3), reporting risk ratios (RRs) and mean differences (MDs) with 95% confidence intervals (CIs).

Results: Fifteen studies involving …

A Randomized Double-Blind, Placebo-Controlled Dose–Response Study To Assess The Gluten Threshold Dose In Celiac Disease, A. James M. Daveson, Emma Craig, Alina Vitak, Robert S. Ware, Jennifer Schafer, Anuj Sehgal, Utpal Bose, Michelle J. Colgrave, Melinda Y. Hardy, Jason A. Tye-Din, Robert P. Anderson

Research outputs 2022 to 2026

Background & Aims: Celiac disease is an immune-mediated enteropathy triggered by gluten ingestion. The effect of very small gluten exposures remains uncertain, contributing to international variations in food-labeling standards. Interleukin 2 (IL2) rises rapidly after gluten ingestion, serving as a biomarker of immune activation. We aimed to identify the lowest gluten dose that elicits a measurable IL2 response and accompanying symptoms in treated celiac disease. Methods: We conducted a randomized double-blind, placebo-controlled adaptive dose–response trial in adults with biopsy-proven celiac disease on a gluten-free diet for >2 years. Participants (n = 51; median age, 52 years; 69% were female) underwent …

The Effects Of Vitamin K On Neuronal Ferroptosis, Chelsey P. Eighmey

Electronic Theses & Dissertations (2024 - present)

Dementia is a crippling illness affecting millions worldwide causing significant public health burdens with long-term care. The lack of treatment options results in many years of suffering for affected individuals and their loved ones who often become primary caretakers. Decades of study have focused on treating dementia with little-to-no success, so an emphasis is needed on attempting to prevent disease progression altogether. This research explored vitamin K as a potential strategy for prevention of dementia onset or progression through the mechanism of suppressing ferroptosis. Ferroptosis is a type of cell death suggested to contribute to the hallmark traits of Alzheimer’s …

Bioinformatic Identification And Analysis Of Shared Splicing Errors In Myotonic Dystrophy Type (Dm1) And Fuchs' Endothelial Corneal Dystrophy (Fecd), Carter I. Wilkins

Electronic Theses & Dissertations (2024 - present)

Myotonic dystrophy type 1 (DM1) is an autosomal dominant form of muscular dystrophy, and it is the most common form of adult-onset muscular dystrophy. The disease is the result of CTG trinucleotide repeats (TNR) in the 3’UTR of the dystrophia myotonica protein kinase (DMPK) gene. This produces toxic RNA hairpin structures by CUG repeat expansions that sequester proteins–most relevantly muscleblind-like 1 (MBNL)–that regulate alternative RNA splicing. The missplicing of a wide variety of genes results in the symptoms such as myotonia (rigidity of the muscles), atrophy, and cardiac failure.

Fuchs’ Endothelial Corneal Dystrophy (FECD) is characterized by progressive loss and …