Medicine and Health Sciences Commons^™

Pre-Hospital Stroke Time Intervals In The Rio Grande Valley, Kelsey Baker, Elio E. Garcia Sosa

Research Colloquium

Background and Introduction: Stroke continues to be a significant cause of mortality in the United States. Despite advancements in acute stroke treatments such as thrombolytic therapy and endovascular procedures, many patients remain unable to benefit from these interventions due to delays in receiving treatment. Healthcare professionals have made substantial efforts to improve 'door to needle' times, the interval between a patient's arrival at the hospital and the administration of thrombolytic therapy, yielding promising outcomes. However, a critical gap persists: the time interval from the onset of stroke symptoms to when patients actually present at a healthcare facility. This study aims …

Late Tamponade After Coronary Artery Bypass Grafting, Jian Garcia Cruz, Roy Kondapavuluru, Diana Othon Martinez, Julio Perez Rodriguez

Research Colloquium

Introduction: Pericardial effusion (PE) incidence can go up to 85% after cardiac procedures, however, not every pericardial effusion causes hemodynamic instability. Progression to Pericardial Tamponade (PT) occurs in 0.1 to 8.8% and may be either early (within 24 h post-cardiac surgery) or late (presenting within a week post-procedure). Both presentations may be attributed to anticoagulant use, inadequate mediastinal drainage, coagulopathy, post-pericardiotomy syndrome (recurrent pericardial effusion).

Patient presentation time might be misleading, as pericardial effusion’s clinical symptoms are varied, ranging from asymptomatic, to shortness of breath, chest pain or discomfort, hypotension, tachycardia, or other non-specific symptoms like cough, fever, and malaise. …

Multiple Intracardiac Thrombi In A Patient With Ischemic Cardiomyopathy, Jian Garcia Cruz, Julio Perez Rodriguez

Research Colloquium

Introduction: Ischemic cardiomyopathy is defined by the American Heart Association (AHA) as cardiomyopathy caused by ischemic heart disease. The most common complication of ischemic cardiomyopathy is systolic congestive heart failure. Heart failure patients are in a hypercoagulable state that predisposes them to develop intracardiac thrombus. The incidence of LV thrombus in patients with dilated cardiomyopathy and sinus rhythm is 13% with the clot in the left atrial appendage in 68% of these cases. The thrombus formation results from impaired blood flow within the 4 chambers of the heart and can present as a life-threatening complication of end stage heart failure. …

Cardiac Tamponade Secondary To Purulent Pericarditis With Mrsa, Jian Garcia Cruz, Julio Perez Rodriguez

Research Colloquium

Introduction: Methicillin resistant Staphylococcus aureus (MRSA) is a nosocomial pathogen that causes severe morbidity and mortality worldwide. MRSA pericarditis is a rare life-threatening condition that can cause purulent pericarditis with only 7 cases having been reported so far. Several reasons why a patient may develop MRSA pericarditis are healthcare-associated infection, weakened immune system, invasive procedures and spread from other infections. Although not typically associated with tamponade, if MRSA were to cause an infection in the pericardial space, it could potentially lead to inflammation and fluid accumulation, resulting in tamponade. We present a case of a woman that developed tamponade secondary …

Understanding Hip Pain Through Social Media: An Initial Overview Of An International Web-Based Survey, John M. Gaddis, Ryan Bialaszewski, Bretton Laboret, Erika Shults, Joel Wells

Research Colloquium

Aims: In the adult population hip pain is often triggered by mechanical anatomic differences including hip dysplasia, femoroacetabular impingement (FAI), Perthes disease and osteoarthritis. We aimed to understand the adult experience of hip pain and develop a comprehensive hip-pain survey using a web-based REDCap platform via social media. This paper outlines our survey and analyzes the demographic composition and characteristics of our sample population.

Methods: The survey link was active from October 1, 2023, to May 1, 2024, on social media platforms. Respondents consented to the study before beginning. Responses were anonymous and only unique surveys were analyzed. The comprehensive …

Unveiling The Impact Of Phosphate On Skeletal Muscle Dysfunction In Chronic Kidney Disease, Hiram Garcia, Sowmya Duddu, Erik Hinojosa, Model Zerfu, Nathaniel L. Alvarez, Mohammad Razzaque, Alex Zuo

Research Colloquium

Background: Chronic Kidney Disease (CKD) is characterized by progressive decline in renal function that ultimately culminates in the inability of the kidneys to effectively maintain homeostasis. The kidneys are a key regulator of phosphate, with other organs assisting in regulation including the skeletal system. In CKD, reduced kidney function leads to hyperphosphatemia. While its impact on the skeletal system is moderately studied, its effects on skeletal muscle are less reviewed. In our literature review, we aim to describe the effects of phosphate in the context of patients who have CKD while providing clinical context for this deserving population. We describe …

The Burden Of Diabetes Mellitus In The Medically Underserved Rio Grande Valley, John M. Gaddis, Elias Arellano, Kassandra Pulido, Tyler Torres, Dominic Chau-Zanetti, Natasha Quailes, Andres Suarez Parraga

Research Colloquium

Introduction

Diabetes mellitus (DM) encompasses metabolic disorders characterized by elevated blood sugar. This study aimed to evaluate the prevalence and associated metrics of DM in the Rio Grande Valley (RGV), a low-income and medically underserved region in the United States, and compare these metrics to the national averages from 2012 to 2022.

Methods

A retrospective cross-sectional analysis was conducted using publicly accessible data from the Centers for Medicare and Medicaid Services (CMS). Metrics analyzed included DM prevalence, average principal cost, rates of emergency department visits, hospitalizations, screenings, and prevalence of obesity. Data from the RGV counties were compared to national …

Periacetabular Osteotomy: An Analysis Of Social Media To Determine The Most Common Questions Asked By The Periacetabular Osteotomy Population, John M. Gaddis, Ryan Bialaszewski, Bretton Laboret, Joel Wells, Adina Stewart

Research Colloquium

Background: Social media has become an increasingly popular resource for patients and a platform to share one’s experiences. Patients undergoing periacetabular osteotomy (PAO) may gravitate towards social media for support, guidance and understanding. The aim of this study was to investigate Facebook, Instagram and Twitter to further understand what the most common preoperative and postoperative questions patients undergoing PAO are asking.

Methods: Facebook, Instagram and Twitter were queried consecutively from February 1, 2023 to November 23, 2011. Facebook was searched for the two most populated interest groups; “Periacetabular Osteotomy (PAO)” and “Periacetabular Osteotomy Australia”. Instagram and Twitter were queried for …

Sex-Dependent Gene Expression Alterations In Social Defeat Stress Model Of Major Depression Disorder, Juan Diego Torres, Javier Vargas Medrano, Anapaula Themann, Elias Arellano Villanueva, Nina Mourao, Megan W. Szobody, Tori Sayers, Sriya Gullapalli, Tyler Torres, Sridhar Srinivasan, Anesu Karen Murambadoro, Kory Deshawn Punch, Kevin Valdez Garcia, Nikhilesh Anand, Kelsey Baker, Sergio Iniguez, Bharathi Shrikanth Gadad

Research Colloquium

Introduction: Major Depression Disorder (MDD) is a prevalent, recurrent, and chronic disorder that represents a leading cause of disability worldwide. Millions are affected with symptoms that go from constant sadness to even suicidal thoughts. In the U.S., major depression and fatal suicide have increased by 57.4% among adolescents and young adults. Myelin and inflammation-related genes have been found to play a role in individuals with MDD.

Methods: Adolescent males and females C57BL/6 mice underwent a vicarious defeat stress (VDS) procedure in which a mouse witnessed a conspecific being defeated. VDS and control (CON) mice underwent the Social Interaction (SI) test. …

Prevalence And Economic Impact Of Osteoarthritis And Rheumatoid Arthritis In The Medically Underserved Rio Grande Valley, John M. Gaddis, Elias Arellano, Ryan Bialaszewski, Dominic Chau-Zanetti, Tyler Torres, Joel Wells

Research Colloquium

Introduction: Osteoarthritis and rheumatoid arthritis (OA/RA), two of the most common forms of arthritis worldwide, are chronic diseases affecting joints. The Rio Grande Valley (RGV) is characterized by an abundance of health disparities with previous studies showing increased rates of multiple diseases and disorders in this region. The purpose of this study was to determine both the prevalence and the risk-adjusted average total cost of OA/RA in the RGV and compare with the national average.

Methods: This retrospective, observational study utilized publicly accessible Medicare beneficiary data from 2012 to 2022. Data on OA/RA prevalence, risk-adjusted average total cost, and stratified …

Phytocannabinoids In Combination: Chronic Pain, Emmanuel Franco, Jose Rios, Laura Valdez, Andrew Tsin, Khalid Benamar

Research Colloquium

Background: Chronic pain, one of the most common reasons adults seek medical care, has been linked to restrictions in mobility and daily activities, dependence on opioids, anxiety, depression, sleep deprivation, and an overall reduced quality of life. Unfortunately, the current treatment options for chronic pain are limited, often ineffective, and have associated side effects. Better outcomes can be achieved by developing new and improved therapeutics or more immediately by identifying favorable drugs that are already available or emerging as potential new analgesics. There is a growing interest in the use of opioid-sparing analgesics, in particular medicinal cannabis, for pain management. …

Environmental Impact Of Water And Air Contaminants On Public Health, Astrid-Ines Foamkom, Luis A. Peña Marquez, Maria Sophia Malbas, Esmeralda Rodriguez, Noe Garza, Ney Alliey-Rodriguez

Research Colloquium

Background: Established literature suggests a strong relationship between exposure to air contaminants and physical health. Similarly, numerous studies have demonstrated the effects of water pollution on public health. Texas denizens are often victims of poor air and water quality, yet there are scant studies that have integrated evidence of health tolls caused by air and water pollution across the state. In this study, we assessed the relationship between particulate matter

Methods: The study used data from the 2018 Medicare and Medicaid report which displayed chronic health conditions across all counties in Texas. Additionally, the study also includes collected data on …

Unveiling The Neurological Aftermath: Pres After Cardiac Arrest, Oyinlola O. Fasehun, Jessica Daza, Sriharsha Koneru, Victor Tran, Eunbee Cho, Fatimah Bello

Research Colloquium

Background: Posterior Reversible Encephalopathy Syndrome (PRES), also known as ‘Reversible Posterior Leukoencephalopathy Syndrome (RPLS)’, is a clinical radiographic syndrome originally described by Hinchey et al in 1996. PRES has been significantly underdiagnosed due to difficulty in confirmation. As such, there is currently no epidemiological data regarding its incidence, but it has been diagnosed in all age groups with a preponderance in females. A variety of medical conditions have been implicated as causes of PRES, including severe hypertension, immunosuppressive therapy, sepsis, renal diseases and autoimmune disorders. The mechanism of PRES is thought to be related to disordered cerebral autoregulation and endothelial …

Cognitive Impairment And Hearing Loss In The Rio Grande Valley: A Retrospective Study Of Alzheimer's, Dementia, And Mild Cognitive Impairment, Victoria Elizondo, Antoinette Burrell, Chantal Uzoma, Desiree Brewer, Naya Williams, Erica Burrell-Walker, Kelsey Baker

Research Colloquium

Background: Millions of US adults experience underrecognized hearing loss, despite effective treatments. Interestingly, hearing loss has been suggested to be further exacerbated in populations of Alzheimer’s Disease. It is hypothesized that structural and functional features of auditory brain organization, which make it vulnerable to neurodegeneration, may heighten susceptibility to hearing loss, although it is unclear how ethnicity impacts its epidemiology. Here, we sought to address this gap by exploring the association between self-reported hearing loss and cognitive decline in Hispanic and non-Hispanic patients across the Rio Grande Valley (RGV).

Methods: We conducted a retrospective review of the UTHealth RGV electronic …

Pseudogout: A Rare Cause Of Pseudoseptic Arthritis - A Case Report, Yareli Durazo, Corey Haines, Elimar Gonzalez, Brandon Cantazaro, Michael Sander

Research Colloquium

Introduction: Pseudoseptic arthritis is the umbrella term designated to various mimics when they present with clinical stigmata indicative of septic arthritis. The underlying causes of these mimics can vary, depending on whether they are associated with autoimmune inflammatory arthritis or crystalline-associated inflammatory arthritis such as gout and calcium pyrophosphate deposition disease (CPPD). In clinical practice, pseudoseptic arthritis can be difficult to differentiate from infectious arthritis, leading to frequent misdiagnosis. However, key differences will exist in the joint aspirate. With septic arthritis, the synovial fluid cultures are positive. However, with pseudoseptic arthritis, the synovial fluid may appear purulent but is sterile. …

Prognostic Utility Of The Lactate/Pyruvate Ratio For Mortality In Patients With Sepsis: An Observational Study, Edgar G. Dorsey-Trevino, Olga G. Cantu-Rodriguez, Jose A. Hawing-Zarate, Grecia A. Gonzalez-Cantu, David Gomez-Almaguer, Cesar H. Gutierrez-Aguirre

Research Colloquium

Introduction: Measurement of serum lactate remains pivotal in sepsis evaluation as it is closely related to tissue hypoxia and mortality.^{1, 2} Serum lactate, however, can be elevated due to a myriad of reasons beyond hypoperfusion.³ A proposed alternative to control for serum lactate’s inherent variability is to measure pyruvate concomitantly to calculate the lactate/pyruvate (L/P) ratio.^{4, 5} As pyruvate transforms into lactate in anaerobic conditions, its value decreases in serum, increasing the L/P ratio, hence indicating an actual tissue-perfusion mismatch.⁶ Despite its clinical utility, there is a paucity of evidence evaluating the role of the L/P …

Pernicious Anemia Presenting With Pancytopenia And Hemolysis: A Case Report From South Texas, Yareli Durazo, Victor Tran, Sriharsha Koneru, Andres Suarez Parraga

Research Colloquium

Introduction: Pancytopenia is a commonly encountered hematologic entity with varying clinical presentations. It results from various disease processes ranging from simple to life-threatening. The most common cause of pancytopenia is megaloblastic anemia, and the most common causes of megaloblastic anemia are deficiencies of vitamin B9 or B12. Thus, folate and B12 deficiency should be high in the differential diagnosis when patients present with pancytopenia. Hemolytic anemia, anemia due to the shortened survival of circulating erythrocytes, often represents a more difficult diagnostic challenge for the clinician. While recognition of ongoing hemolysis is usually rapid and relatively simple, establishing the cause can …

Potential Involvement Of Srb1 In Type 1 Diabetes Associated Dyslipidemia: Characterizing Srb1 Antisense, Sowmya Duddu, Masami Shimizu-Albergine, Karin E. Bornfedlt

Research Colloquium

Background: One of the main complications of type 1 diabetes is cardiovascular disease associated with dyslipidemia, characterized by abnormally high levels of triglyceride-rich lipoproteins in the bloodstream. This imbalance could eventually lead to complications such as atherosclerosis. Liver Scavenger Receptor Class B Type 1 (SRB1) is currently being investigated for its role in type 1 diabetes induced dyslipidemia. We aim to characterize the effects of using a liver specific SRB1 antisense (GalNAc-SRB1 ASO) in non-diabetic and diabetic mice. We hypothesize that triglyceride and cholesterol levels will increase to a greater extent in diabetic mice injected with GalNAc-SRB1 ASO than in …

Rapid Response: Infantile Spasms And Low-Dose Prednisolone In A Young Child With Down Syndrome, Briana Noel Cortez, Christopher Cavazos, Aaron Carrillo, Brianna Woodliff

Research Colloquium

Background: Infantile spasms are an age-related epileptic disorder occurring in infancy or early childhood and are common in children with Down Syndrome. They have been associated with developmental delay, and thus rapid treatment of the disorder has been emphasized. First line treatments include a high dose prednisolone taper or adrenocorticotropic hormone (ACTH), of which, neither has been shown to be more efficacious in recent studies. Other less effective options include vigabatrin or high-dose pyridoxine.

Case Presentation: Our patient is a 1-year old female with Down Syndrome, who presented with concern for infantile spasms, occurring from 4-10 months of age. Episodes …

Exploring The Role Of Reactive Oxygen Species In Redox Cancer Therapy: Unveiling New Avenues For Treatment, Fernando Cisneros Iv, Alex Zuo

Research Colloquium

Cancer cells, compared to normal cells, often exhibit higher levels of reactive oxygen species (ROS) compared to normal cells due to various factors. Despite this, research suggests that cancer cells are more vulnerable to oxidative stress. Given the role of oxidative stress in cancer development, several proposed mechanisms detail how ROS can contribute to tumorigenesis. The modulation of pathways directing to increased ROS production might provide more avenues for cancer treatment and prevention. Molecular targets in cancer, recognized by their association to transcription factors like Nrf2, involve genes such as P53 and HMOX1. Administration of agents such as quercetin, lipid …

Exploring Novel Niclosamide Derivatives For Enhanced Efficacy In Human Glioblastoma U-87 Mg Cells: A Sar Investigation, Fernando Cisneros Iv, Benjamin Valdivia, Jihoo Woo, Shizue Mito

Research Colloquium

Glioblastoma, often referred to as glioblastoma multiforme (GBM), is the most aggressive and malignant type of primary brain tumor in adults. Glioblastoma is notoriously difficult to treat due to several inherent characteristics, such as its aggressiveness, heterogeneity, compartmentalization via the blood-brain barrier, resistance to most conventional therapies like chemotherapy and radiation, its location, and limited treatment options. Consequently, despite significant advancements in pharmacotherapies over the past 30 years, there has been only relatively minimal improvement in prognosis. Recent research into the effectiveness of niclosamide, an antihelminth drug, has yielded encouraging findings regarding its potential as a treatment for glioblastoma. Our …

Vertebral Morphology Of Loeys-Dietz Spine, Myung-Jin Cha, William Elnemer, Paul D. Sponseller

Research Colloquium

Introduction: Understanding pedicle and laminar anatomy is crucial for secure fixation of spinal instrumentation and to ultimately prevent complications such as pseudoarthrosis. This study explores the spinal morphology in the LD vertebrae and compares it to vertebrae of TDP.

Methods: The morphology of 36 vertebrae from T1 to L5 were measured in 4 LD syndrome patients, using MRI and CT scans. The morphology of 140 vertebrae from T1 to L5 were measured in non-connective tissue disorder patients, using MRI, CT, and X-rays. These values were then compared to each other. Comparisons via paired Student’s t-test were made between the concave …

Upper Extremity Neurologic Injury Following Surgery For Early-Onset Scoliosis, Myung-Jin Cha, Daniel Badin, Paul D. Sponseller

Research Colloquium

Introduction: In our study, we aim to characterize the incidence, risk factors, and outcome for and outcomes of upper extremity (UE) neurologic injury following operations for patients with early onset scoliosis (EOS).

Methods:EOS patients who underwent surgical correction of their scoliosis were selected from a multicenter database. The patient cohort was then analyzed in their demographics, etiology of scoliosis, details of the injury, type of spinal implant, and changes in cobb angle and kyphosis. Descriptive statistics were used to summarize this cohort of patients.

Results: Out of 4653 EOS patients who underwent surgery in the multicenter database, 10 patients …

Surgically Relevant Anatomy Of Marfan Spinal Deformity, Myung-Jin Cha, William Elnemer, Paul D. Sponseller

Research Colloquium

Introduction: Understanding pedicle and laminar anatomy is crucial for secure fixation of spinal instrumentation. This study explores the spinal morphology in the Marfan vertebrae and compares it to vertebrae of TDP.

Methods: The morphology of 134 vertebrae from T1 to L5 were measured in 16 Marfan patients with spine deformity, using MRI and CT scans. The morphology of 140 vertebrae from T1 to L5 were measured in TDP, using MRI, CT, and X-rays. These values were then compared to each other. Comparisons via paired Student’s t-test were made between the concave and convex side of the curve.

Results: On average, …

Can We Predict Dominant Compensatory Curves In Congenital Scoliosis?, Myung-Jin Cha, William Elnemer, Paul D. Sponseller

Research Colloquium

Background: A complication in the natural evolution of congenital scoliosis is the development of a compensatory curve. Congenital curves are often focal and rigid, causing patients to develop a compensatory curve cranial and/or caudal to the congenital anomaly to achieve coronal balance. Therefore, surgeons are faced with the difficult choice of waiting for the patient to reach an appropriate age for surgery or correcting the congenital curve before a compensatory curve develops.

Methods: By searching the Pediatric Spine Study Group database, we identified 307 pediatric patients (age <18) with congenital scoliosis who had preoperative radiographs taken during at least 2 years of natural growth (without bracing or surgery). Of these patients, 17 (5.5%) had a dominant compensatory curve, and 290 had no compensatory curve or one that was smaller than the congenital curve. Of those 290 patients, we randomly selected 100 to serve as a control group, referred to as the nondominant curve cohort. We extracted data on the type of congenital anomaly and its vertebral level, as well as the Cobb angles of the congenital and compensatory curves at initial and latest follow-up. We compared vertebral level and type of congenital anomaly via chi-squared test between the dominant and nondominant curve group.

Results: The congenital anomaly was located at L4 or more caudal in 18% …

Tgf-B Signaling Pathways In The Development Of Diabetic Retinopathy, Andrew Callan, Sonal Jha, Laura Valdez, Lois F. Baldado, Andrew Tsin

Research Colloquium

Diabetic retinopathy (DR), a prevalent complication of diabetes mellitus affecting a significant portion of the global population, has long been viewed primarily as a microvascular disorder. However, emerging evidence suggests that it should be redefined as a neurovascular disease with multifaceted pathogenesis rooted in oxidative stress and advanced glycation end products. The transforming growth factor-β (TGF-β) signaling family has emerged as a major contributor to DR pathogenesis due to its pivotal role in retinal vascular homeostasis, endothelial cell barrier function, and pericyte differentiation. However, the precise roles of TGF-β signaling in DR remain incompletely understood, with conflicting reports on its …

Gastrointestinal Bleed In The Context Of Hemophilia A In An Incarcerated Patient In The Rio Grande Valley, Cameron B. Caldwell, Hector Trejo, Andres Suarez-Parraga

Research Colloquium

Background: Hemophilia A, the most common X-linked hereditary hemostasis disorder, has an incidence of approximately 1 in 5600 male live births worldwide. It results from a deficiency of clotting factor VIII, crucial for fibrin generation in the coagulation cascade, leading to inadequate fibrin generation and defective secondary hemostasis. Hemophilia can cause life-threatening bleeding, characterized as severe (< 1% factor VIII activity), moderate (2-5%), or mild (6-40%). Social determinants of health pose significant challenges in managing hemophilia in underserved populations. This case presents gastrointestinal bleeding in a mild hemophilia A patient in the Rio Grande Valley.

Case Presentation: A 24-year-old Hispanic male with mild hemophilia A presented with a three-day history of melena, headaches, dizziness, and mild abdominal discomfort. Despite recent normal colonoscopy and EGD results, he had a history of intermittent black stool episodes. On admission, …

Systemic Biology Approach Linking Type 2 Diabetes And Depression In A Rio Grande Valley Family Study Population, Cameron B. Caldwell, Eron Manusov, Vincent P. Diego, Ana C. Leandro, Sandra Laston, John Blangero, Sarah Williams-Blangero, Marcio Almeida

Research Colloquium

Background: Type 2 diabetes and depression are major public health concerns that disproportionally impact Mexican Americans. Prevalence of T2D and depression have been estimated as high as 30% and 40%, respectively in Mexican American populations along the Texas-Mexico border. While the interaction between these two phenotypes is well documented, the underlying genetic basis of this interaction remains unclear. Our aims for this project were to identify genes co-expressed in type 2 diabetes and depression to dissect the interaction correlations between both conditions by means of a functional gene expression correlation network.

Methods: A total of 528 Mexican American participants from …

Increased Risk Of Stroke In Hispanic Patients With Multiple Sclerosis?: A Case Report And Literature Review On Multiple Sclerosis In The Rio Grande Valley., Antoinette Burrell, Chantal Uzoma, Desiree Brewer, Naya Williams, Victoria Elizondo, Erica Burrell-Walker, Kelsey Baker

Research Colloquium

Background: Multiple sclerosis (MS) and stroke share a common pathogenesis that contributes to mortality and disability in patients in both developed and developing countries. MS and stroke have similar risk factors, however, the relationship between ethnicity and disease co-occurrence is unclear. Here, we describe a case report of disease co-occurrence in a Hispanic patient in the Rio Grande Valley and present a literature review on evidence suggesting an increased risk of stroke in Hispanic patients with multiple sclerosis.

Method: Relevant studies were systematically searched in PubMed/Medline and Google Scholar dated from January 2013 up to April 2024 that contained …

Potential Impact Of Expanded Carrier Screening On The Incidence Of Duchenne Muscular Dystrophy In Neonates, Desiree Brewer, Richard Parad, Yvonne Sheldon, Francisca Coyne

Research Colloquium

Background: Duchenne Muscular Dystrophy (DMD), the most common form of muscular dystrophy is associated with a 25 year life expectancy and occurs in 1 in 5,000 male births. At Brigham and Women’s Hospital over 18,000 infants have undergone newborn screening (NBS) for DMD without a positive result. We identified a case where a DMD carrier mother (detected through pre-pregnancy expanded carrier screening (ECS), underwent assisted reproductive technology that led to implantation of an embryo confirmed to be DMD negative. To test the hypothesis that ECS that included DMD might decrease the incidence of DMD through reproductive planning, we …