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

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 …

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.

Maternal Cleidocranial Dysplasia – An Exceptionally Rare Skeletal Syndrome With Clinical Implications, Abigail Haythorn, Katherine Cuadrado, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.