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

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.

Femoral Structure And Biomechanical Characteristics In Sanfilippo Syndrome Type-B Mice, Frederick J. Ashby, Evelyn J. Castillo, Yan Ludwig, Natalia K. Andraka, Cong Chen, Julia C. Jamieson, Nadia Kabbej, John D. Summerville, Jose I. Aquirre, Coy D. Heldermon, University Of Florida

Knowledge and Creativity Expo

Sanfilippo syndrome Type-B, also known as mucopolysaccharidosis IIIB (MPS IIIB), accounts for approximately one-third of all Sanfilippo syndrome patients and is characterized by a similar natural history as Type-A. Patients suffer from developmental regression, bone malformation, organomegaly, GI distress, and profound neurological deficits. Despite human trials of enzyme replacement therapy (ERT) (SBC-103, AX250) in MPS IIIB, there is currently no FDA approved treatment and a few palliative options. The major concerns of ERT and gene therapy for the treatment of bone malformation are the inadequate biodistribution of the missing enzyme, N-acetyl-α-glucosaminidase (NAGLU), and that the skeleton is a poorly hit …

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 …

Hydroxypropyl Methylcellulose As A Mucoadhesive Polymer In Ethanol-Free Buprenorphine Gel For Neonatal Sublingual Delivery, Sanskruti Dave, Viren Soni, Samarth A. Shah, Walter K. Kraft, Gagan Kaushal

College of Pharmacy Faculty Papers

Buprenorphine (BUP) is widely used in the treatment of neonatal opioid withdrawal syndrome (NOWS). However, the most compounded formulation contains 30% ethanol, despite regulatory and clinical concerns regarding ethanol exposure in pediatric patients. Thus, this research aimed to develop an ethanol-free sublingual (SL) gel formulation of BUP that would be safe, stable, and suitable for NOWS. Multiple polymers were screened as gelling agents, with hydroxypropyl methylcellulose (HPMC) emerging as the ideal base polymer for the formulation due to its optimal pH, rheological characteristics, and stability. The formulated gels were stored at room temperature and refrigerated conditions for 30 days and …

Rare Event: Neonatal Anaphylaxis Following Hepatitis B Vaccination – A Case Series From A Tertiary Care Center In India, Aarthi Ma, Revanth R

Advances in Clinical Medical Research and Healthcare Delivery

We report two cases of anaphylaxis following Hepatitis B vaccination in one-day-old neonates at a tertiary care hospital in India. Both cases presented with similar patterns of cutaneous reactions and respiratory symptoms shortly after intramuscular administration of the Hepatitis B vaccine. To our knowledge, this is among the few documented case series of neonatal anaphylaxis post–Hepatitis B vaccination, underscoring its rarity yet clinical importance. The cases highlight the critical importance of vigilant post-vaccination monitoring and prompt recognition of vaccine-associated adverse events in neonates. This report reviews current literature on anaphylaxis following vaccination and discusses optimal management strategies.

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.

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.