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

A Case Of Life Threatening Hemorrhage After In Office Drainage Of Suspected Bartholin Gland Cyst, Rebecca Johnson, Sandra Zhi, Megan Khuu, Robert Boccaccio

North Texas Research Forum 2025

Introduction: Labial masses are common in OBGYN clinics. They are benign the vast majority of times. Common causes are Bartholin cysts, epidermal inclusion cysts, labial warts, sebaceous cyst. We report a case of a 33 year old who presented for what appeared to be a benign Bartholin gland cyst but resulted in massive hemorrhage, exam under anesthesia, massive transfusion, and embolization. Case Summary: A 33 year old patient presents for a painless, non-enlarging labial mass that has been present for 3 weeks. History and physical exam were consistent with a commonly encountered condition, Bartholin gland cyst. Routine incision and drainage …

Herpes Zoster? Pfo? Or Both?, Thomas Mizera, Amelia Mellor, Vinh Ngo, Micheline Tantchou, Oscar Munoz

Central & West Texas and San Antonio GME Research Day 2025

No abstract provided.

A Rare Case Of Prolonged Life Expectancy In A Patient With Duchenne Muscular Dystrophy, Sara Shahid, Mina Choudhry, Anam Zara

Gulf Coast Division GME Research Day 2025

No abstract provided.

A Hidden Source Of Ostomy Bleeding: Meckel Diverticulum, Shiva Morisetty, Ezekiel Kapusiak, Kumar Shah

East Florida Division GME Research Day 2025

Adult Meckel diverticulum can present atypically compared to classic childhood Meckel diverticulum. Given the increased likelihood of concurrent medical conditions in adults, it is often overlooked in the differential for lower gastrointestinal bleeding. We report a 61-year-old male with rectal adenocarcinoma status post low anterior resection and diverting loop ileostomy who presented repeatedly with hematochezia via the ostomy. Prior episodes were managed conservatively. During the index admission, esophagogastroduodenoscopy and ileoscopy did not identify a bleeding source; a clip was placed near the suspected site. Interventional radiology was consulted for mesenteric angiography. Superior mesenteric angiography demonstrated a tortuous aberrant ileal branch …

Anomalous Aortic Origin Of Right Coronary Artery With Malignant Course Presenting As Non-St Elevation Myocardial Infarction (Nstemi) In A Middle-Aged Female, Ahmad Karzoun, Hamza Alkowatli, Mir Hussaini, Ahmad Ghafoor, Muhammad Faiz

West Florida Division GME Research Day 2025

No abstract provided.

A Vaping Nightmare: Sudden Death Provoked By Vaping In The Setting Of Pectus Excavatum, Anoop Gala, Nga Van, Grace Rustom, Danielle Ford, Phuc Nguyen

North Texas Research Forum 2025

Pectus excavatum (PE), characterized by an inward depression of the sternum, is the most common congenital chest wall abnormality. It has been rarely linked to cardiac abnormalities, such as arrhythmias and sudden cardiac arrest (SCA). In addition, emerging research suggests that vaping is a cardiovascular risk factor that has the potential to destabilize cardiac rhythm and promote arrhythmias. There is a lack of FDA oversight and long-term research on the effects of vaping. The rising popularity of vaping among youth, coupled with misconceptions about its safety, underscores the urgent need to understand the potential interactions vaping has in precipitating fatal …

Comparing Human Milk-Derived Vs Bovine-Derived Fortifiers In Formula-Fed Preterm Infants On The Incidence Of Necrotizing Enterocolitis, Maya C. Kern

Nursing | Student Research Posters

Necrotizing enterocolitis (NEC) is one of the leading causes of death in infants < 32 weeks gestation and/or < 1500g. Human breast milk lowers NEC rates through immunologic, microbial, and gut-protective mechanisms. When maternal or donor milk is unavailable, infants require formula with fortification but the safest type of fortifiers remains unclear. Bovine-derived fortifiers may increase gut inflammation; human milk-derived fortifiers may offer more protection. Limited research exists comparing these fortifiers when infants are exclusively formula fed. Determining if human milk-derived fortifiers still reduce NEC risk could influence NICU feeding guidelines and improve outcomes.

Left Isomerism: A Mirror Into Broadening The Heterotaxy Spectrum, Zach Sukin, Erin Moffett, Madison Wulfeck, Dennis Lindfors, Sandor Szilagyi

West Florida Division GME Research Day 2025

No abstract provided.

Clots Without A Cause: Unmasking A Rare Anomaly In A Young Patient With Extensive Bilateral Dvts, Safura Sattar, Abigail Dawes, Vanessa Jasmin, David Naimzadeh, Syed Haaris, Nameer Ascandar, Michael Schandorf-Lartey

West Florida Division GME Research Day 2025

No abstract provided.

Case Report: Disseminated Herpes Simplex Virus Complicated By Hemophagocytic Lymphohistiocytosis In A Neonate, Nicholas Tadros, Nihal Godiwala

School of Medicine Faculty Publications

Neonatal herpes simplex virus (HSV) infection carries a high mortality rate due to its potential to cause disseminated disease involving multiple organ systems, which can rapidly progress to shock and death if not promptly treated. In rare cases, neonates may mount an uncontrolled inflammatory response leading to hemophagocytic lymphohistiocytosis (HLH), a severe hyperinflammatory syndrome. We present a case of neonatal HSV infection complicated by HLH, highlighting the challenges of managing both conditions concurrently. Our therapeutic approach demonstrated a reduction in systemic inflammation and viral load; however, despite these efforts, the patient developed multiorgan failure and ultimately died from the initial …

Identifying The Role And Influence Of Interleukin-27 On The Neonatal Immune Response, Jordan Kane Vance

Graduate Theses, Dissertations, and Problem Reports (ETD)

The first month of life is a critical and vulnerable developmental stage, characterized by a heightened risk of life-threatening infections. Each year, 1.3 million newborns succumb to neonatal bacterial sepsis. The immune system during the neonatal period has unique features that lead to inefficiencies at clearing infection. Early life immunity is characterized by a Th2-biased profile with decreased IL‑12, IFN-γ, and TNF-α, along with increased IL‑6 and IL‑23. Additionally, IL‑27, an immunosuppressive cytokine, is also elevated during this period and further contributes to susceptibility to infection. Early diagnosis and intervention are critical in administering effective care in newborns and there …

Identifying Factors Associated With Time To Diagnosis For Symptomatic Intestinal Malrotation In Pediatric Patients, Katie E. Corcoran

Graduate Theses, Dissertations, and Problem Reports (ETD)

Intestinal malrotation is a rare condition in which the intestines rotate improperly during embryonic development. Intestinal malrotation is typically diagnosed in pediatric patients with an upper gastrointestinal imaging (UGI) series. Longer time to diagnosis of intestinal malrotation increases the risk of mortality and severe morbidity. While the need for timely diagnosis is well-established in the literature, the correlates of time to diagnosis are largely unknown. The classic medical presentation for intestinal malrotation is an infant presenting with green bilious emesis. I hypothesize that time to diagnosis of intestinal malrotation will be longer in symptomatic pediatric patients when they present differently …

Incontinentia Pigmenti Diagnosed In Newborn Nursery, Virginia Ramsey Aldrich, Andrea Heuser

South Atlantic Division GME Research Day 2025

No abstract provided.

E. Coli Sepsis And Cholangitis In A Patient With Sickle-Cell Disease: A Case Report, Madeline Pham, Kristen Stovall, Marvin Sineath Jr.

South Atlantic Division GME Research Day 2025

No abstract provided.

Volvulus Of A Wandering Spleen: A Case Report, Curtis Bethel, Allison Thompson

South Atlantic Division GME Research Day 2025

No abstract provided.

Pregnancy Management In A Patient With Branchio-Oto-Renal Syndrome And A History Of Renal Transplant, Lilly Mcincrow, Sara Hitt, Nanette Woodward, Anthony B. Royek

South Atlantic Division GME Research Day 2025

No abstract provided.

Dermoscopic Features Of Sebaceous Adenoma, Abigail M. Lowe, Michelle Militello, Karthik Krishnamurthy, Sarah Ferrer-Bruker

South Atlantic Division GME Research Day 2025

No abstract provided.

Congenital Posterior Urethroperineal Fistula Presenting As A Cystic Mass, Muhammad Siddiqui, Sang Woo Pak, Preeya Mistry, Sarah Starnes, Stacy White, Anthony Zarka, Lori Gurien

South Atlantic Division GME Research Day 2025

No abstract provided.

More Than Skin Deep: A Long Term Cyst Masquerades Breast Cancer Metastasis, Paola Torres-Laboy, Juan Rosario Collazo

South Atlantic Division GME Research Day 2025

No abstract provided.

Surgical Outcomes Of Median Arcuate Ligament Release, Savannah Yeh, Alina Chen, Yasmeen Dhindsa, Peter Lawrence, Karen Woo

South Atlantic Division GME Research Day 2025

No abstract provided.

Left Atrial Appendage Morphology Related To Cva Risk In Patients With Atrial Fibrillation, Lincoln Smith, John-Michael Benson, Jacob Michael Keesee

South Atlantic Division GME Research Day 2025

No abstract provided.

Investigating Rna Dysfunction Of Inherited Neuromuscular And Neurodevelopmental Disease, Jacob H. Schroader

Electronic Theses & Dissertations (2024 - present)

ITPase deficiency is a rare but fatal, autosomal recessive enzyme deficiency involving encephalopathy, microcephaly, congenital cataracts, hypotonia, developmental delay, and dilated cardiomyopathy. Within a decade since the original description of the severe form in humans, there are huge gaps in the field regarding the underlying molecular mechanisms driving pathogenesis resulting from ITPase deficiency. Past studies have focused on characterization of the organism level ITPase-deficient phenotype, but the molecular and cellular characterization remains to be fully described. Due to the biochemical function and established biological role of the ITPase enzyme, investigation into the consequences of inosine accumulation and misincorporation into RNA …

The Giant Omphalocele Contenting A Surprised Congenital Segmental Intestinal Dilatation, A Case Report And Review Literature., Sirima Liukitithara

Chulalongkorn Medical Journal

This report described the characteristics and management of a rare condition, a segmental dilated small intestine, which has a mimic-liver appearance in giant omphalocele. After the dilated intestine was resected and end-to-end anastomosis was performed, the abdomen could be closed simultaneously without immediate complications. We reviewed the literature on congenital segmental intestinal dilatation. Although the nature of this condition is still unknown, all reports showed the same excellent operative outcome. Finally, awareness of congenital segmental intestinal dilatation in giant omphalocele leads to proper management.

Artificial Intelligence In Fetal And Pediatric Echocardiography, Alan Wang, Tam T Doan, Charitha Reddy, Pei-Ni Jone

Faculty, Staff and Students Publications

Echocardiography is the main modality in diagnosing acquired and congenital heart disease (CHD) in fetal and pediatric patients. However, operator variability, complex image interpretation, and lack of experienced sonographers and cardiologists in certain regions are the main limitations existing in fetal and pediatric echocardiography. Advances in artificial intelligence (AI), including machine learning (ML) and deep learning (DL), offer significant potential to overcome these challenges by automating image acquisition, image segmentation, CHD detection, and measurements. Despite these promising advancements, challenges such as small number of datasets, algorithm transparency, physician comfort with AI, and accessibility must be addressed to fully integrate AI …

Multiparametric Cardiovascular Magnetic Resonance Is Associated With Outcomes In Pediatric Heart Transplant Recipients, Andrew A Lawson, Kae Watanabe, Lindsay Griffin, Christina Laternser, Michael Markl, Cynthia K Rigsby, Joshua D Robinson, Nazia Husain

Faculty, Staff and Students Publications

BACKGROUND: Multiparametric cardiovascular magnetic resonance (CMR) has an emerging role in non-invasive surveillance of pediatric heart transplant recipients (PHTR). Higher myocardial T2, higher extracellular volume fraction (ECV), and late gadolinium enhancement (LGE) have been associated with adverse clinical outcomes in adult heart transplant recipients. The purpose of this study was to investigate the prognostic value of CMR-derived T1 and T2 mapping, ECV, and LGE for clinical outcomes in PHTR.

METHODS: We performed a single-center, retrospective chart review of consecutive, gadolinium-enhanced CMR studies in PHTR over a 7.5-year period, excluding follow-up studies. Standard CMR ventricular volume and function analysis, T1 mapping …

Antibiotics For Culture-Negative Neonatal Early-Onset Sepsis: Measuring The Unmeasurable, Dustin D Flannery, Matthew B Green

Rowan-Virtua School of Osteopathic Medicine Departmental Research

No abstract provided.

Systemic Sirolimus Therapy Is Associated With Reduced Intervention Frequency In Pulmonary Vein Stenosis, Alyssa B Kalustian, Joseph L Hagan, Paige E Brlecic, Ionela Iacobas, Rachel D Vanderlaan, Joseph Burns, Thao T Wu, Ravi Birla, Sharada Gowda, Manish Bansal, Srinath T Gowda, Lindsay F Eilers, Asra Khan, Juan Pablo Sandoval-Jones, Michiaki Imamura, Yishay Orr, Christopher A Caldarone, Athar M Qureshi

Faculty, Staff and Students Publications

BACKGROUND: Early clinical outcomes data for adjunctive systemic sirolimus therapy (SST) for moderate to severe pediatric pulmonary vein stenosis (PVS) are promising but limited.

OBJECTIVES: The authors aimed to characterize a cohort of patients treated with SST to determine if SST was associated with a reduction in frequency of PVS interventions.

METHODS: Medical records of 45 patients with PVS treated with SST for ≥1 month from 2015 to 2022 were retrospectively reviewed. PVS intervention rates pre-SST and on-SST were compared using generalized Poisson mixed models, accounting for paired intervals within each patient. In addition to an unadjusted model, an adjusted …

Management Of Covid-19 In A Patient With Kartagener Syndrome: A Case Report, Yatin Ramesh Babu, Shivani Patel, Andy Aleman Espino, Mallory Kazaleh, Hamlet Monteagudo, Odalys Frontela

HCA-NSU MD Research Day

The unprecedented global health challenge posed by COVID-19, caused by SARS-CoV-2, has driven research into its diverse clinical manifestations and underlying pathophysiological mechanisms. This report explores the interplay between pre-existing conditions, particularly Kartagener Syndrome, and COVID-19 outcomes. Kartagener Syndrome, characterized by primary ciliary dyskinesia, presents a unique perspective due to its anatomical and physiological features. The case details a 63-year-old female with Kartagener Syndrome admitted with COVID-19 symptoms. The gold-standard approach for Kartagener Syndrome involves comprehensive management strategies, including airway clearance techniques, pharmacotherapy, and surgical interventions. The patient's treatment encompassed bronchodilators, antibiotics, and subsequent improvements, leading to discharge with a …

Normalization Of Cystic Fibrosis Immune System Reverses Intestinal Neutrophilic Inflammation And Significantly Improves The Survival Of Cystic Fibrosis Mice, Callie E. Scull, Yawen Hu, Scott Jennings, Guoshun Wang

School of Medicine Faculty Publications

BACKGROUND & AIMS: Cystic fibrosis (CF) is an autosomal recessive genetic disorder, affecting multiple organ systems. CF intestinal disease develops early, manifesting as intestinal bacterial overgrowth/dysbiosis, neutrophilic inflammation, and obstruction. As unresolvable infection and inflammation reflect host immune deficiency, we sought to determine if the CF-affected immune system plays any significant role in CF intestinal disease pathogenesis. METHODS: CF and sibling wild-type (WT) mice underwent reciprocal bone marrow transplantation. After immune reconstitution, their mortality, intestinal transit, fecal inflammatory markers, and mucosal immune cell composition were assessed. Moreover, reciprocal neutrophil transfusion was conducted to determine if neutrophil function affects intestinal movement. …

Pediatric Cardiac Xenotransplantation And Expanded Access: Ethical Considerations, Daniel J Hurst, Christopher Bobier, Anthony Merlocco, Luz A Padilla, Daniel Rodger, David Cleveland, John D Cleveland

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Due to the current organ shortage waitlist, alternatives to allotransplantation are necessary. Xenotransplantation is currently being pursued as one such alternative in adults in need of kidney or heart transplantation. Cardiac xenotransplantation of genetically modified pig hearts has been conducted twice in adults under the United States Food and Drug Administration (FDA) expanded access criteria. Because of the shortage of transplantable hearts for children as well as the lack of mechanical circulatory support in this population, pediatric researchers are exploring FDA expanded access in high-risk neonates and infants who lack alternative options for survival. The adult cardiac xenotransplantation experience with …