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

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 …

Play To Win: A Randomized Controlled Trial To Assess The Effects Of Play-Based Training On Upper Extremity Function In Children With Hemiplegia, Vivian London

Honors Scholar Theses

Hemiplegia, or paralysis of one side of the body, is the primary symptom of unilateral cerebral palsy, a subtype of cerebral palsy, the most common movement disorder in children. Standard of care is regular physical and occupational therapy to improve performance in bimanual activities, but conventional therapy can be expensive and draining for caregivers and children, so a need exists for a novel intervention that can take place at home and that is economical for families while being engaging for children. This thesis reports data from a subset of ten children seen as part of a randomized controlled clinical trial …

The Development Of A Crispr-Based Calibrated Functional Assay For Classifying Pathogenicity Of Msh2 And Msh6 Variants In Lynch Syndrome, Olivia N. Amodeo

Honors Scholar Theses

Lynch syndrome is a hereditary disease caused by the inheritance of a mismatch repair gene variant. Individuals with this condition are predisposed to cancer development, most commonly colorectal cancer. Current guidelines for variant classification are based on numerous evidence categories, including functional evidence. However, many novel clinical variants are not well characterized, and evidence is difficult to obtain if functional assays are not calibrated.

To address this, our lab created a calibrated functional assay that calculates an odds of pathogenicity score for MSH2 and MSH6 gene variants that can be used as evidence for classifying variants of uncertain significance. This …

Biomechanical Effects Of Bilateral Torsion And Skeletal Fusion: A Case Study, Linnéa Forbes

Honors Projects

As part of both a personal endeavor and an academic project, I have investigated the aetiology and treatment of seemingly idiopathic and debilitating leg pain in a patient over the past 10 years. Via collaboration with medical professionals at Cincinnati Children’s Hospital, Cincinnati Premier Physical Therapy, and Cincinnati Women’s TriHealth, I have identified sources of pain at the anatomical level. The combination of internal femoral torsion, external tibial torsion, pes planus, and bony fusions appear to be major perpetuators of the pain. An effective treatment continues to be evasive. To date, I have attempted to find answers through genetic approaches, …

Recurrent Ventricular Tachycardia In Young Hcm Patient With Icd, Michael Rollins, Garza, Laura Preece

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

The Case Of A Pain-Ridden Pregnancy In A Woman With Sickle Cell Disease, Katie Riffle, Linda Haddox

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

Symptomatic Chiari 1 Malformation In A 35-Year-Old Female, Ignatius Mmodebelu, Jaime Natividad, Jonathan Carpenter, Juan Rodriguez

Central & West Texas and San Antonio GME Research Day 2026

No abstract provided.

Leadless Pacing And The Emerging Era Of Combined Procedures In Adult Congenital Heart Disease, Srikant Das, Brock A Karolcik, Taylor S Howard

Faculty, Staff and Students Publications

No abstract provided.

Craniofacial Differences And Safe Sleep Practices: Findings From A Caregiver Survey At A Children’S Hospital, Cait Vuturo-Brady, Aracelia S. Aldrete, Jesus Gil Inciong, Miccah Seaman, Rianna Leazer

Knowledge and Creativity Expo

Purpose

Many infants with cleft lip and/or palate (CL/P) have airway issues that make supine, flat-surface sleep challenging.¹ Prior studies indicate that alternative positioning may reduce obstructive events,² and early sleep-disordered breathing can affect later development.³  Despite this, caregivers of infants with craniofacial differences rarely receive tailored sleep guidance, and no evidence-based, condition-specific recommendations currently exist.^4,5

Methods

This single-site, cross-sectional study evaluated sleep practices, caregiver education, and barriers to adherence among parents of children (< 3 years) with CL/P treated at CHKD’s Craniofacial Program. Eligible caregivers (n=117) were identified via query of the electronic medical record by CHKD Data Governance and invited to complete an anonymous REDCap survey assessing demographics, sleep environment, counseling, and understanding of safe-sleep recommendations.

Results & Conclusions

Of the 11 caregivers who completed the survey, 91% reported crib sleep, though several also used beds, couches, …

The Epigenetic Effects Of Prenatal Diabetes On The Developing Vascular System- A Gsea Analysis, Daniel I. Telles Orellana

SPARK Symposium Presentations

Prenatal diabetes is a critical medical condition that extensively affects neonatal patients and their families. Numerous previous studies have suggested impairments in vascular development, size, and diversification; however, the molecular and gene regulatory mechanisms underlying these effects remain poorly understood. Understanding these mechanisms is essential for identifying potential therapeutic targets and improving treatment strategies. This study combined experimental zebrafish phenotypic analysis with re-analysis of publicly available RNA-seq data to investigate the effects of elevated glucose on embryonic vascular development. Zebrafish (Danio rerio) embryos were exposed to increasing glucose concentrations (1–3%) during early developmental stages. High glucose exposure showed …

Presentations Of Cutaneous Disease In Various Skin Pigmentations: Keratosis Pilaris, Henry Lim, Reem Ayoub, Madelyn Richards, Marshall Hall, Christian Scheufele, Dustin Wilkes, Michael Carletti, Stephen E. Weis

HCA Healthcare Journal of Medicine

Keratosis pilaris (KP) is a common benign disorder involving hyperkeratosis of the skin. It is associated with other common dry skin disorders such as atopic dermatitis and ichthyosis vulgaris. Lesions are clinically characterized as symmetrically distributed, monomorphic, folliculocentric, hyperkeratotic papules with a variable degree of perifollicular erythema. The appearance can be likened to spikey bumps that are commonly located on the arms, legs, and buttocks. Awareness of KP is important as every primary care clinician will see patients with this disorder. Identification can support the diagnosis of other associated skin diseases. Education about KP and its treatment may alleviate psychological …

Comparison Of Ventilation Support During Laser Treatment Of Retinopathy Of Prematurity, Jason Peng, Raghav Taneja, Barry N. Wasserman, Krystal Hunter, Vineet Bhandari, Alla Kushnir

Wills Eye Hospital Papers

Highlights: What are the main findings? Preterm infants undergoing ROP laser surgery with routine elective intubation had significantly longer durations of post-operative mechanical ventilation. Routine intubation during this procedure did not improve short-term clinical outcomes, such as overall hospital length of stay or timing of laser intervention in the infant’s life. What are the implications of the main findings? Routine intubation strategies may unnecessarily increase exposure to mechanical ventilation without improving clinical outcomes. Standardization of perioperative intubation practices across hospitals may be needed to optimize respiratory support in this vulnerable population. Objective: To compare respiratory outcomes between infants undergoing retinopathy …

A Shocking Case Of Wolf Parkinson White (Wpw) Syndrome, Sarah Hendee, Bailey Reale, Tate Higgens, David Taylor, Dmitriy Scherbak

Continental and Mountain Divisions GME Resarch Day 2026

No abstract provided.

High Suspicion Of Congenital Long Qt Syndrome Diagnosis In A Polypharmacy Patient, Alexis Lopez Cruz, Grant Haden, Julianna Vecchio, Hasnan M. Ijaz, Thomas Alexander

Gulf Coast Division GME Research Day 2026

No abstract provided.

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 …

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; …

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.