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

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.

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.

Detecting Early Changes In Cartilage Collagen And Proteoglycans Distribution Gradients In Mice Harboring The R992c Collagen Ii Mutant Using 2d Correlation Infrared Spectroscopy, Jolanta Fertala, Andrzej Steplewski, Andrzej Fertala

Department of Orthopaedic Surgery Faculty Papers

Collagen II is a vital structural component in developing bones and mature cartilage. Muta- tions in this protein cause spondyloepiphyseal dysplasia, a disease characterized primarily by altered skeletal growth and manifesting with a range of phenotypes, from lethal to mild. This study examined transgenic mice harboring the R992C (p.R1124C) substitution in colla- gen II. Previous research demonstrated significant growth abnormalities and disorganized growth plate structure in these mice, and histological signs of osteoarthritic changes in the knee joints of 9-month-old mice with the R992C mutation. Our study focuses on detecting early structural changes in the articular cartilage that occur before …

Volatile Anesthetic Exposure During Organogenesis (Weeks 6-9): Implications For Fetal Brain Development, Cheryce Daniel, Kylon Coombs

Rowan-Virtua Research Day

Organogenesis, particularly during gestational weeks 6 through 9, represent a critical window for fetal brain development. During this period, neurogenesis, neural tube closure and synaptic organization are actively occurring. Disruption of these processes, especially from exogenous agents, can result in lasting developmental consequences.

The U.S Food and Drug Administration has issued warnings regarding the use of anesthetic agents such as isoflurane, sevoflurane, and desflurane. Noting the potential risk of neurotoxic effects on the developing brain. This warning is particularly highlighted when administered drugs are present for long periods of time or during repeated procedures. The goal of this literature review …

Assessing The Safety And Effectiveness Of Endovascular Treatment Vs. Surgical Repair Of Aortic Aneurysms In Patients With Marfan Syndrome: A Literature Review, Noor Baig, Zainab Mubasher, Nassos Tziviskos, Joseph Pernini, Marcus Fariello, Ryan Hickey

Rowan-Virtua Research Day

Background: This review compares the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) versus open surgical repair in patients with Marfan Syndrome (MFS) and thoracic aortic aneurysms. We assessed differences in mortality, length of hospital stay, renal impairment, and stroke incidence between the two techniques. Currently, open surgical repair is the gold standard treatment.

Hypothesis: As the gold standard treatment, we expect open surgical repair to have more favorable outcomes than TEVAR.

Methods: A systematic literature search was performed using studies from 2000-2024 across PubMed, Scopus, Embase, Cochrane, and Web of Science. Studies were included if they involved adult …

A 40 Year Journey: Adenocarcinoma In A J Pouch Post Prophylactic Surgery For Fap, Osamuyi Asemota, Kayla Brown, Megan Turley, David Fleeger

Central & West Texas and San Antonio GME Research Day 2025

No abstract provided.

Robotic Transabdominal Preperitoneal Morgagni Hernia Repair, Chris Robert, Furrukh Jabbar

North Texas Research Forum 2025

Introduction: Morgagni hernia is a rare type of congenital diaphragmatic hernia, representing about 3% of all cases. It occurs due to a defect in the development of the diaphragm in the Morgagni foramen, also known as the sternocostal triangle. Case presentation: A 63-year-old woman with a past medical history of hypertension, hypothyroidism, Barrett’s esophagitis, and cirrhosis secondary to alcohol intake (Child Pugh A) presented with increasing shortness of breath and spasmodic right sided chest pain. A diagnostic workup with a CT chest revealed herniation of fat and a portion of the colon into the right chest with adjacent atelectasis of …

A Unique Case Of Small Bowel Arteriovenous Malformations In The Setting Of Immune Thrombocytopenic Purpura, Austin Moore, Evan Chen, Hassan Ahmed

North Texas Research Forum 2025

Arteriovenous malformations (AVM) are a common cause of gastrointestinal (GI) bleeding and often require intervention for definitive treatment. The diagnosis and management of this disease process becomes complicated when combined with an immunologic coagulation disorder. There is very limited literature describing management techniques for patients with these coinciding diseases. This unique case describes a 65-year-old male with a history of AVMs of the small bowel as well as immune thrombocytopenic purpura (ITP). Previously he had undergone multiple medical interventions for management of his ITP, including steroids and intravenous immunoglobulin therapy. He had also undergone multiple imaging and endoscopic interventions to …

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.

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.

Trends In Gaps Of Care For Patients With Congenital Heart Disease: Implications For Social Determinants Of Health And Child Opportunity Index, Abbas H. Zaidi, Adam Alberts, Devyani Chowdhury, Claude Beaty, Benjamin Brewer, Ming Hui Chen, Sarah D. De Ferranti

Department of Surgery Faculty Papers

BACKGROUND: Lifelong continuity of care is essential for patients with congenital heart disease (CHD) to maximize health outcomes; unfortunately, gaps in care (GIC) are common. Trends in GIC and of social determinants of health factors contributing to GIC are poorly understood.

METHODS AND RESULTS: This retrospective cohort study included patients with CHD, aged 0 to 34 years, who underwent surgery between January 2003 and May 2020, followed up at a pediatric subspeciality hospital. Patients were categorized as having simple, moderate, and complex CHD based on 2018 American Heart Association and American College of Cardiology guidelines. Social determinants of health, such …

Ultrasound Versus Radiography For Evaluating Surgical Necrotizing Enterocolitis, Sayed H. Aftab, Santiago Martinez-Correa, Minh-Huy Huynh, Wondwossen T. Lerebo, Jorge Delgado, Rebecca Denis, Misun Hwang

Rowan-Virtua Research Day

Purpose:

Necrotizing enterocolitis (NEC) is an abdominal inflammatory condition that is common in premature neonates. Although abdominal radiograph (AR) remains the imaging standard for NEC, it may miss up to 50% of early signs of NEC and has been described to have a sensitivity as low as 15.4% for detecting pneumoperitoneum. Abdominal ultrasound (US) is portable, non-invasive, and allows real-time bowel integrity, movement, and perfusion assessment. We aim to evaluate the concordance between US and AR in detecting NEC features and the diagnostic performance of both modalities in detecting pneumoperitoneum.

Methods and materials:

We conducted an IRB-approved retrospective, cross-sectional, single-center …

Complications Following Hemivertebrectomy For Congenital Scoliosis, Sanjana Davuluri, Taemin Oh, Kyrillos Akhnoukh, Zachary Weingrad, Michael Lesgart, Terrence Ishmael, Joshua Pahys, Amer Samdani, Steven Hwang

Rowan-Virtua Research Day

Introduction:

Hemivertebrae are rare congenital anomalies that can cause severe scoliosis requiring surgical correction. We aimed to determine whether severity of deformities is associated with more long-term surgical complications following surgical correction.

Methods:

We performed a retrospective, single-institution review on patients who underwent hemivertebrectomy and spinal fusion for congenital scoliosis between 2008-2020. We extracted pertinent data on demographics, radiographic parameters, operative details, and complication rates. Subgroup analyses were also done by complication severity, deformity complexity, and construct length.

Results:

In our series, 30 patients underwent hemivertebrectomy and fusion. Mean age was 9±4.2 years and there was 2:1 male preponderance, with …

Does The Central Nasolabial Aesthetic Subunitimprove After Secondary Alveolar Bone Grafting? A Three-Dimensiona Lmorphometric Study, Peter Larson Miller, Anand R. Kumar

South Atlantic Division GME Research Day 2024

No abstract provided.

A Case Of Meckel's Diverticulum Enterolith Causing A Small Bowel Obstruction, Megan Bedard, Alexandra Moody, Emmett Mcguire

Continental, MidAmerica, & Mountain Divisions GME Research Day 2024

No abstract provided.

Association Of Prematurity And Urogenital Comorbidities With Postoperative Outcomes Of Ureteroneocystostomy For Vesicoureteral Reflux, Raeann Dalton, Young Son, Edward Wu, Leah Anderton, Matthew Eximond, Lance Earnshaw, Katelyn Klimowich, Gregory Dean

Rowan-Virtua Research Day

Background: It is estimated that 20-30% of congenital anomalies involve the kidney and ureter, and these rates are even higher in infants with low birth weights. Vesicoureteral reflux (VUR) occurs when there is a backflow of urine from the bladder to the kidney. Depending on severity, this condition may require surgical correction with ureteroneocystostomy (UNC). The impact of premature birth and presence of urogenital comorbidities on outcomes of UNC is not known. The objective of this study is to determine the relationship between premature birth and urogenital comorbidities with operative outcomes of UNC for VUR.

Methods: The 2020 American College …

Midgut Volvulus A Rare Cause Of Acute Abdomen In The Adult Patient, Mason S. Deinema, Saptarshi Biswas

South Atlantic Division GME Research Day 2023

No abstract provided.

Appendicitis Mimicry Of A Rare Case Of Early Diagnosed Dolichocolon, A Case Report, Kayla Brown, Mercedes Jolley, Dean Kocay

Central & West Texas GME Research Day 2023

No abstract provided.

Congenital Mesenteric Defect Results In Internal Hernia In An Adult With Obstructed Small Bowel, Tameem Jamal, Adina Mcnair, Saptarshi Biswas

South Atlantic Division GME Research Day 2023

No abstract provided.

Inotropic Score And Vasoactive Inotropic Score As Predictors Of Outcomes In Congenital Diaphragmatic Hernia: A Single Center Retrospective Study, Srirupa Hari Gopal, Cynthia L Toy, Morcos Hanna, Betul Yilmaz Furtun, Joseph L Hagan, Ahmed A Nassr, Caraciolo J Fernandes, Sundeep Keswani, Sharada H Gowda

Faculty, Staff and Students Publications

BACKGROUND: Neonates with congenital diaphragmatic hernia (CDH) have varying degrees of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac dysfunction. These neonates frequently require vasoactive support and are at high risk for mortality and morbidity, including prolonged ventilator support, need for extracorporeal membrane oxygenation (ECMO), prolonged length of stay, and need for tracheostomy. However, identifying which infants are at increased risk can be challenging. In this study, we sought to investigate the utility of the inotropic score (IS) and vasoactive inotropic score (VIS) as tools to predict significant clinical outcomes and overall survival in patients with CDH. Additionally, we evaluated the …

Methylprednisolone For Heart Surgery In Infants - A Randomized, Controlled Trial, Kevin D Hill, Prince J Kannankeril, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Sean M O'Brien, David P Bichel, Eric M Graham, Brian Blasiole, Ashraf Resheidat, Adil S Husain, S Ram Kumar, Jerry L Kirchner, Dianne S Gallup, Joseph W Turek, Mark Bleiweis, Bret Mettler, Alexis Benscoter, Eric Wald, Tara Karamlou, Andrew H Van Bergen, David Overman, Pirooz Eghtesady, Ryan Butts, John S Kim, John P Scott, Brett R Anderson, Michael F Swartz, Patrick I Mcconnell, David F Vener, Jennifer S Li, Stress Network Investigators

Faculty, Staff and Students Publications

BACKGROUND: Although perioperative prophylactic glucocorticoids have been used for decades, whether they improve outcomes in infants after heart surgery with cardiopulmonary bypass is unknown.

METHODS: We conducted a multicenter, prospective, randomized, placebo-controlled, registry-based trial involving infants (age) undergoing heart surgery with cardiopulmonary bypass at 24 sites participating in the Society of Thoracic Surgeons Congenital Heart Surgery Database. Registry data were used in the evaluation of outcomes. The infants were randomly assigned to receive prophylactic methylprednisolone (30 mg per kilogram of body weight) or placebo, which was administered into the cardiopulmonary-bypass pump-priming fluid. The primary end point was a ranked composite …

Comparative Costs Of Management Strategies For Neonates With Symptomatic Tetralogy Of Fallot, Michael L O'Byrne, Andrew C Glatz, Yuan-Shung V Huang, Michael S Kelleman, Christopher J Petit, Athar M Qureshi, Shabana Shahanavaz, George T Nicholson, Shawn Batlivala, Jeffery J Meadows, Jeffrey D Zampi, Mark A Law, Jennifer C Romano, Christopher E Mascio, Paul J Chai, Shiraz Maskatia, Ivor B Asztalos, Asaad Beshish, Joelle Pettus, Amy L Pajk, Steven J Healan, Lindsay F Eilers, Taylor Merritt, Courtney E Mccracken, Bryan H Goldstein

Faculty, Staff and Students Publications

BACKGROUND: Recent data have demonstrated that overall mortality and adverse events are not significantly different for primary repair (PR) and staged repair (SR) approaches to management of neonates with symptomatic tetralogy of Fallot (sTOF). Cost data can be used to compare the relative value (cost for similar outcomes) of these approaches and are a potentially more sensitive measure of morbidity.

OBJECTIVES: This study sought to compare the economic costs associated with PR and SR in neonates with sTOF.

METHODS: Data from a multicenter retrospective cohort study of neonates with sTOF were merged with administrative data to compare total costs and …

Splenectomy In A Patient With Von Willebrand Disease And Itp. Hemostatic Challenges, Perioperative Resuscitation, Resource Allocation And Challenges Of Management In A Regional L1 Center, Taylor Locklear, Akash Patel, Saptarshi Biswas

South Atlantic Division GME Research Day 2022

No abstract provided.

Congenital Non-Union Of C1 Leading To Quadriplegia Following A Roller Coaster Ride, Kelly Champlin, Saptarshi Biswas

South Atlantic Division GME Research Day 2022

No abstract provided.

Esophageal Atresia Associating Gastrointestinal Malformations: A Study Of Clinical Approach, Dan Alexandru Iozsa, Andreea Cristina Costea, Nicolae Sebastian Ionescu

Journal of Mind and Medical Sciences

Digestive tract malformations requiring surgical repair in association with esophageal atresia are rare occurrences. Because of this uncommon presentation of esophageal atresia, its evaluation and management are often difficult, requiring extensive workup and multiple surgical procedures. We present our experience with esophageal atresia associating gastrointestinal congenital anomalies in the last 10 years. Clinical and surgical perspectives were pointed willing to make relevant observations in matters of diagnosis and treatment strategy in these patients. Therefore, 7 cases resembling this pattern were identified – duodenal atresia and anorectal malformation being the most common coexistent malformations. All the cases exhibited technical and procedural …

Rationale And Design Of The Steroids To Reduce Systemic Inflammation After Infant Heart Surgery (Stress) Trial, Kevin D Hill, H Scott Baldwin, David P Bichel, Ryan J Butts, Reid C Chamberlain, Alicia M Ellis, Eric M Graham, Jesse Hickerson, Christoph P Hornik, Jeffrey P Jacobs, Marshall L Jacobs, Robert Db Jaquiss, Prince J Kannankeril, Sean M O'Brien, Rachel Torok, Joseph W Turek, Jennifer S Li, Stress Network Investigators

Faculty, Staff and Students Publications

For decades, physicians have administered corticosteroids in the perioperative period to infants undergoing heart surgery with cardiopulmonary bypass (CPB) to reduce the postoperative systemic inflammatory response to CPB. Some question this practice because steroid efficacy has not been conclusively demonstrated and because some studies indicate that steroids could have harmful effects. STRESS is a randomized, placebo-controlled, double-blind, multicenter trial designed to evaluate safety and efficacy of perioperative steroids in infants (age < 1 year) undergoing heart surgery with CPB. Participants (planned enrollment = 1,200) are randomized 1:1 to methylprednisolone (30 mg/kg) administered into the CPB pump prime versus placebo. The trial is nested within the existing infrastructure of the Society of Thoracic Surgeons Congenital Heart Surgery Database. The primary outcome is a global rank score of mortality, major morbidities, and hospital length of stay with components ranked commensurate with their clinical severity. Secondary outcomes include several measures of major postoperative morbidity, postoperative hospital length of stay, and steroid-related safety outcomes including prevalence of hyperglycemia and postoperative infectious complications. STRESS will be one of the largest trials ever conducted in children with heart disease and will answer a decades-old question related to safety and efficacy of perioperative steroids in infants undergoing heart surgery with CPB. The pragmatic "trial within a registry" design may provide a mechanism for conducting low-cost, high-efficiency trials in a heretofore-understudied patient population.

Pentalogy Of Cantrell, Muhammad Khawar Sana, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Pentalogy of Cantrell (POC) is a collection of five congenital midline birth anomalies that present a distinctive challenge for clinicians and surgeons. Those five defects are of the heart, pericardium, diaphragm, sternum, and abdominal wall. This condition has been divided into two categories, complete or partial. Complete, as the name indicates, refers to the presence of all five defects, while others may present with only partial defects. It is also referred to as thoracoabdominal ectopia cordis, a condition where the heart is covered by an omphalocele-like membrane. Ectopia cordis (EC) is often found in fetuses with POC. Infants usually have …

Patent Urachus, Kayla B. Briggs, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

atent urachus refers to one condition in a rare spectrum of disorders referred to as urachal anomalies. These conditions result from the failure of the involution of normal embryologic tissues that serve to empty the fetal bladder. The location and amount of persistent tissue dictate the presenting symptoms. Some of these urachal anomalies are obvious at birth, while others are more subtle and not diagnosed until adulthood or only incidentally discovered after imaging is obtained for other reasons. Historically, surgical resection of urachal anomalies was routinely undertaken, given the potential for malignancy in retained ectopic tissue. Early surgical resection has …

Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb

Posters

Prenatal closure of myelomeningoceles for fetuses with ventricular width of greater than 15 mm at the time of intrauterine screening (19-25 weeks) has been discouraged, but little is documented regarding the details of ventricle measurement, modality, and timing. This study concludes that ultrasound and MRI provide different results in regards to fetal ventricle size. If treatment recommendations are going to be offered or withheld based on the 15 mm "rule" the method of fetal imaging must be taken into account.

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the life of …