Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Antagonistic Effects Of Glucagon And Insulin On 5-Fluorouracil Efficacy In Colorectal Cancer, Gabriel M. Randolph, Andrea Florian

SPARK Symposium Presentations

Prior research on the combined effects of insulin and glucagon with low-dose chemotherapy in cancer treatment has yielded contradictory conclusions. Insulin potentiation therapy (IPT), a longstanding but understudied approach, is broadly claimed to enhance chemotherapeutic efficacy; however, it has also been characterized as pseudoscience lacking physiological merit. Adding further complexity, glucagon, insulin's antagonist hormone, has been shown to produce anti-cancer effects when combined with chemotherapeutic agents. The present study aims to observe the individual effects of both hormones on colorectal cancer cells in combination with 5-Fluorouracil (5-FU), to clarify their respective roles in combination therapy. Through the modulation of both …

When Ckd Isn't What It Seems: A Case Of Lect2 Amyloidosis, Ankita Ojha, Banshi M. Rathi

Gulf Coast Division GME Research Day 2026

No abstract provided.

Acute Myocardial Infarction In A Patient With Concurrent Atherosclerotic Disease And Significant Myocardial Bridging, Jason Stanberry, Ankith Motkar, Daniela Salazar, Ahmed Tarbay, Kumaraswamy Nutalapati, Sabry Omar

West Florida Division GME Research Day 2026

No abstract provided.

Case Report: Unique Presentation Of Mediastinal Mullerian Duct Cyst Developing Alongside Bronchial Cyst, Julia Dane, Stephanie Ngom Morris, Vaughan Marr, Bryan Steinberg

West Florida Division GME Research Day 2026

No abstract provided.

A Tale Of Two Primaries: Ectopic Papillary Thyroid Carcinoma In A Lung Resection With A Typical Carcinoma, Laura Luu, Laura Glasscock, Christina Maldonado, Vitaly Borodin

West Florida Division GME Research Day 2026

No abstract provided.

Acute Gastrointestinal Bleeding Associated With Cowden Syndrome: A Case Report, Gennipher A. Smith, Robert Keller

North Texas GME Research Forum 2026

No abstract provided.

Negative Imaging, Ongoing Hemorrhage: An Ulcerated Jejunal Avm Requiring Advanced Endoscopic Intervention, Joel Mathews, Trina Lewis, John Mathew, Long Hoang

North Texas GME Research Forum 2026

Small bowel bleeding is relatively uncommon, accounting for less than 10% of all gastrointestinal (GI) bleeds. Small bowel angiodysplasias are the most common cause of small bowel bleeding. These lesions can often be difficult to identify on radiographic imaging or endoscopy and tend to rebleed after intervention. Our case centers on an 86-year-old patient who presented with an acute GI bleed from an obscure ulcerated jejunal arteriovenous malformation (AVM); his past medical history includes an undisclosed prior upper GI bleed treated with endoscopic clipping, paroxysmal atrial fibrillation, type 2 diabetes, prostate cancer with prostatectomy, and other chronic conditions. He presented …

Challenges Of Thrombectomy In Submassive Pulmonary Embolism With Patent Foramen Ovale, Sana Khan, Syed Ahmed, Muhammad T. Siddique, Edic Stephanian

North Texas GME Research Forum 2026

BACKGROUND/ INTRODUCTION: Submassive, or intermediate-risk, pulmonary embolism (PE) is defined by preserved systemic blood pressure with evidence of right ventricular (RV) strain. The presence of a patent foramen ovale (PFO) in this setting significantly increases the risk of hypoxemia, paradoxical embolization, and procedural complications during catheter-based interventions. Mechanical thrombectomy has become an important treatment option for selected patients with intermediate- to high-risk PE; however, experience in patients with concomitant large PFOs remains limited.

CASE PRESENTATION: A 78-year-old woman presented with acute dyspnea, hypoxemia, and chest pain and was found to have a saddle PE with severe RV dilation and biomarker …

An Unusual Culprit Behind A Massive Pulmonary Embolism: Atypical May-Thurner Syndrome From Iliac Artery Aneurysm, Boney Lapsiwala, Jiaming Xue, Mayank Singh, Sai Krishan Reddy Dronadula, Sadia Zahid, Mian Yousef

North Texas GME Research Forum 2026

Background: Venous thromboembolism (VTE) is a major cause of global morbidity and mortality. May-Thurner syndrome (MTS) is an iliofemoral venous compression syndrome caused by extrinsic compression of the left common iliac vein (LCIV), classically by the right common iliac artery at the level of the fifth lumbar vertebra. Although the estimated anatomic prevalence ranges from 18-49%, only 2-5% of cases are diagnosed during evaluation for lower-extremity deep vein thrombosis (DVT). Clinical manifestations range from asymptomatic venous compression to unilateral leg swelling, venous insufficiency, and acute iliofemoral DVT, with pulmonary embolism (PE) reported infrequently.

Case presentation: A 75-year-old man with hypertension, …

A Mixed Cause Of Heart Failure, Brandon West, Austin Meyer, Kenya Lindstrom, Jason Hall, Jennifer Griffith

Continental and Mountain Divisions GME Resarch Day 2026

No abstract provided.

Elevated State Of Mind: A Case Of High-Altitude Worsening Chiari 1 Malformation, Lauren Walters, Brock Cardon, Levi Sundermeyer

Continental and Mountain Divisions GME Resarch Day 2026

No abstract provided.

Human Milk Feeding And Its Impact On The Incidence Of Necrotizing Enterocolitis, Maya C. Kern

Nursing | Senior Theses

One of the leading causes of morbidity and death for preterm and very low birth weight (VLBW) newborns is still necrotizing enterocolitis (NEC). Existing literature consistently shows that the bioactive, anti-inflammatory, and microbiome-supporting components of human breast milk, including donor human milk, significantly lower the incidence of NEC. However, a lot of infants are forced to rely on formula and nutrient fortifiers because they cannot obtain maternal or donor milk. A critical gap persists regarding whether human milk derived fortifiers offer greater NEC protection than bovine derived fortifiers in infants who must receive formula. This thesis examines three interconnected themes; …

What Does The Quality Of Life For Congenital Heart Defect Patients Look Like Across The Lifespan?, Kaylee F. Maynor

Undergraduate Honors Theses

Throughout history, birth defects have left a mark on patients and families across the world. From an infant's first few breaths to an elderly person's last breath, congenital heart birth defects play a major role in that person's life. There are many different types of birth defects that effect the heart. Each defect is unique and has different outcomes on the body. Some congenital heart diseases have multiple defects causing more than one complication. The treatment options for many of the common congenital heart birth defects have come a long way throughout decades of research. By diving into what heart …

Cystic Fibrosis, Children's Health School Services

School Guides

Educator guide about how to support students with cystic fibrosis.

Congenital Heart Defects, Children's Health School Services

School Guides

Educator guide about how to support students with congenital heart defects.

Sickle Cell Disease, Children's Health School Services

School Guides

Educator guide about how to support students with sickle cell disease.

An Unusual Case Of Genetic Dilated Cardiomyopathy Unmasked By Covid-19 Infection, Greeshma Molugu, Daniel Mcmahan, Seline Haci, Giridhar Mundluru, Machaiah Madhrira

North Texas GME Research Forum 2026

Introduction: Titin (TTN) mutations are a well-known cause of dilated cardiomyopathy (DCM), occurring in approximately 25% of familial cases of idiopathic DCM and 18% of sporadic cases. Recognition and referral for genetic testing remains underutilized but has important prognostication and helps the patient better understand the disease transmission. This case report stresses the importance of a complete evaluation for genetic causes of DCM.

Case Presentation: A 21-year-old male who was adopted as an infant was hospitalized with COVID-19 infection and diagnosed with non-ischemic cardiomyopathy with an initial left ventricular ejection fraction (EF) of 10%. He was assumed to have DCM …

Cor Triatriatum Sinistrum: An Underrecognized Indication For Anticoagulation, Boney Lapsiwala, Karthik Kasireddy, Tenna Mathew, Babu Makkena

North Texas GME Research Forum 2026

Background: Cor triatriatum (CTS) is a rare congenital heart defect in which a fibromuscular membrane divides the atrium into two chambers, disrupting normal blood flow and potentially leading to circulatory impairment. Accounting for 0.1% to 0.4% of congenital heart diseases, CTS presents variably depending on the degree of left atrial obstruction. Patients may report exertional dyspnea, orthopnea, or palpitations; severe cases can progress to heart failure, pulmonary hypertension, or thromboembolic events. We present the case of a young adult male who developed symptomatic heart failure and atrial fibrillation and was incidentally found to have CTS on imaging.

Case presentation: A …

Atypical Del(5q) Mutation In Myelodysplastic Syndrome Presenting With Thrombocytopenia: A Case Report Of Tp53-Mutated High-Risk Biology, Shahzaib Maqbool, Munaf Siyamwala, Amelia Goslin, Shivani R. Scharf, Katsiaryna Laziuk

MidAmerica Division GME Healthcare Symposium 2026

No abstract provided.

Alpha 1 Antitrypsin Deficiency In Primary Care: A Case Presentation, John Sweetman, Gazala Parvin

MidAmerica Division GME Healthcare Symposium 2026

No abstract provided.

Intermittent Hypoxia In A Middle-Aged Woman With A Probable Bethlem Myopathy Carrier State And Suspected Complex Sleep-Related Hypoventilation, Jonathan Paul Ladera, Louis Orlando

MidAmerica Division GME Healthcare Symposium 2026

No abstract provided.

When A Rare Neuromuscular Disorder Meets Covid-19: A Challenging Case Of Myotonic Dystrophy In The Intensive Care Unit, Pradeep Rajbhandari, Lawrence San Jose, Michael Waxman

MidAmerica Division GME Healthcare Symposium 2026

No abstract provided.

Successful Anesthetic Management Of Patient With Marfan Syndrome: Optimizing Cardiovascular Stability And Maternal Outcomes, M Roberts, C Cox, K Leavitt

South Atlantic Division GME Research Days 2026

No abstract provided.

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 …

Understanding The Syphilis Resurgence Among Females Of Childbearing Age: Informing Prevention Efforts In New York State, Salvatore Currenti

Electronic Theses & Dissertations (2024 - present)

Syphilis is caused by Treponema pallidum and transmitted through direct contact with infected mucosal lesions and via vertical transmission during pregnancy (i.e., congenital). Transmission of syphilis to an infant during pregnancy (i.e., congenital syphilis [CS]) can lead to early fetal death, stillbirth, neonatal death, preterm birth, low birthweight, and congenital infection in infants. The United States (U.S.) is experiencing epidemic increases in both females of reproductive age with syphilis and infants with CS. In New York State (NYS), these trends have also occurred, especially after COVID-19 emergence, and increases in reported cases and incidence rates are comparable to national statistics. …

First Reported Robotic-Assisted Falciform Ligament Patch Repair Of An Iatrogenic Larrey-Type Anterior Diaphragmatic Defect Following Subxiphoid Pericardial Window, Christian M. Simon, Elisabeth Barrar, Husain Abbas

South Atlantic Division GME Research Days 2026

No abstract provided.

Shone Syndrome: Where Childhood Repair Is Just The Beginning, William Zvagelsky, Ebad Rahman, Ibrahim Fahdi

South Atlantic Division GME Research Days 2026

No abstract provided.

Case Report: Acute Rv Failure Post Cabg In The Setting Of Pectus Excavatum, Kim Nguyen, Mclean Beson, Heather Palomino, Derek Horstemeyer, Bryan Lee, Savan Ghandi

South Atlantic Division GME Research Days 2026

No abstract provided.

Consecutive Offspring With Major Midline Anomalies In The Setting Of Maternal Spastic Diplegia And A Wes-Identified Genetic Mutation, Kaitlyn Vu, Lillian Fagan, Alison Macleod, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Evaluating The Impact Of Gabapentin As An Adjunct To Hydromorphone On Hospital Length Of Stay In Adults Admitted For Sickle Cell Pain Crises, Minh Chung, Taylor Johnson, Breveenn Kukan, Luis Ramos, Amethyst Wilder

South Atlantic Division GME Research Days 2026

No abstract provided.