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

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.

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.

Fetal Trisomy 9 In The Setting Of Low Risk Nipt Aneuploidy Screening, Andrew Royek, Shea Mcgrinder, Lauren Boyle, Anthony Royek

South Atlantic Division GME Research Days 2026

No abstract provided.

Finding Foxg1 Syndrome In An Adult Patient, Claudia Ludden, Timothy P. Connelly

South Atlantic Division GME Research Days 2026

No abstract provided.

Assessing Access To Orthopaedic Care For Patients With Osteogenesis Imperfecta, Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace

Graduate Medical Education Research Journal

Background. Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth. Patients often need many different medical providers frequently, which may place financial burdens on families. This study sought to identify and understand barriers to care for children with OI.

Methods. We utilized an Institutional Review Board (IRB)-approved survey for primary caregivers of children with OI. Questions included demographic data, type of health insurance, history of and reasons for insurance denials, access to multidisciplinary OI care, and travel to receive OI care. The …

Factors Associated With Stillbirth In Four Selected Hospital Maternity Units: An Unmatched Case-Control Study In Eswatini, Phetsile Thwala, Abednego Ongeso, Rose Maina, Benard Mutwiri

School of Nursing & Midwifery, East Africa

Background: Stillbirth is a substantially under-recognized adverse pregnancy outcome that predominantly occurs in low-middle-income countries. In 2019, Eswatini’s stillbirth rate was 13.2 per 1,000 births, higher than global targets. However, there is limited research on stillbirths in Eswatini. This study analyzed factors associated with stillbirths among women giving birth in four selected hospitals.

Methods: A multi-center unmatched case-control study was conducted using secondary data sources from July 1 to December 31, 2021. Birth records of 268 stillbirths (cases) and 1,151 live births (controls) were selected using consecutive and systematic random sampling, respectively. A piloted data extraction tool was used to …

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Management Of Stone Disease In The Spina Bifida Patient, Meghan F. Davis, Kyle L. Yu, Arun K. Srinivasan

Department of Medicine Faculty Papers

PURPOSE OF THE REVIEW: This review provides a detailed overview of the specifics of presentation, diagnosis, and management of upper and lower urinary tract stone disease for individuals with spina bifida.

RECENT FINDINGS: Recent studies highlight the significant burden of stone disease for spina bifida patients. Individuals with spina bifida require lifelong urologic care. They are more likely to have stone disease and have complications from management. This is a particularly salient issue for patients who have undergone bladder augmentation. Given the frequency and severity of these issues, it is critical that urologists be familiar with the nuances of stone …

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking Into Cell-Free Therapies For Bone-Affected Lysosomal Storage Disorders, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) constitute a group of monogenic systemic diseases resulting from deficiencies in specific lysosomal enzymes that cause the intralysosomal accumulation of non- or partially degraded substrates, leading to lysosomal dysfunction. In some cases of LSDs, the bone is more severely affected, thus producing skeletal manifestations in patients. Current therapies, such as enzyme replacement therapy (ERT) and gene therapy (GT), show limited efficacy in correcting skeletal abnormalities. Increasing evidence suggests that microenvironmental disturbances also contribute significantly to disease pathogenesis. Therefore, therapeutic strategies targeting lysosomal dysfunction and microenvironmental dysregulation are needed. Mesenchymal stem-cell-derived extracellular vesicles (MSC-EVs) are emerging as …

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 …

Cross-Sectional Analysis Of Wound-Associated Soluble Factors In Early, Established, And Chronic Wounds Of Recessive Dystrophic Epidermolysis Bullosa Patients, Vitali Alexeev, Leonie Huitema, Taylor Phillips, Paras Patel, Mauricio Garza, Franziska Ringpfeil, Julio Salas-Alanis, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Poorly healing wounds represent the primary health-related burden for hereditary recessive dystrophic epidermolysis bullosa (RDEB) patients. Contribution of wound-associated soluble constituents to wound progression remains not well defined.

OBJECTIVE: To conduct cross-sectional analysis of cytokine, chemokine, and growth factor in exudates from RDEB wounds and define changes associated with wound progression.

METHODS: Concentrations of selected cytokines, chemokines, and growth factors were evaluated by multiplex ELISA in eight blister fluids and 66 exudates from early, established, and chronic RDEB and five chronic venous ulcers (VU). A cross-sectional analysis was performed.

RESULTS: Our data demonstrated that proinflammatory CXCL8 and IL-1β tend …

The Impact Of Nicu Death On Bereaved Mothers, Jennie Terranova

University Honors Theses

Infant loss in the United States occurs 5.6 per 1,000 live births. This paper examines risk factors that contribute to neonatal death. Prematurity is a risk factor for NICU admission. A portion of premature babies receiving care in the NICU will die. The stressful nature of the NICU has been studied widely in journals. The impact of NICU death on hospital staff and bereaved parents has been studied less. Mortality studies suggest that bereaved mothers are at a high risk of dying within the first 5 years after their child has died. Despite the frequency of maternal death post-child loss, …

Longitudinal Trends In Pediatric Survival By Congenital Heart Defect In Texas, 1999 To 2017, Sara B Stephens, Shaine A Morris, Renata H Benjamin, Mark A Canfield, Charles J Shumate, Ruosha Li, Cecilia Cazaban-Ganduglia, A J Agopian

Faculty, Staff and Student Publications

Background: Despite previously improved survival among children with congenital heart defects (CHDs), U.S. population-level evaluations of survival within recent years are scarce.

Objectives: The purpose of this study was to describe the survival landscape among children with CHDs in a large population-based birth defects registry overall and by CHD lesion.

Methods: This population-based cohort study evaluated 1999 to 2017 live births with ≥1 major CHD in the statewide Texas Birth Defects Registry. Variables included CHD lesion, demographics, gestational age at birth (term/preterm), low birthweight (< 2,500 g at birth), among others. Kaplan-Meier analyses were used to describe survival to 7 days, 28 days, 1 year, 5 years, and 10 years of life. Kaplan-Meier survival estimates were generated for 1-year survival for CHDs overall by lesion, using log-rank tests assessing differences by exposure.

Results: Of 61,656 children with CHDs, survival was 98.1% and 90.7% at 7 days and …

Shilla Growth Guidance System (Sggs) Instrumentation With Pelvic Foundation (Sggs) For Severe Neuromuscular Spine Deformity. Does It Work?, Hannah Geoffroy, Richard Schwend

Research Days

This study evaluates the use of the Shilla Growth Guidance System (SGGS) with a pelvic foundation for treating severe neuromuscular scoliosis in young children. The primary outcomes include revision surgery and complication rates. In a 21-patient cohort (mean age 5.3 years, follow-up 10 years), 57% required only one surgery, while 43% needed revisions. The complication rate was 38%, with a 29% deep infection rate. The procedure improved spinal alignment and growth but carried significant risks. SGGS with pelvic fixation may reduce the need for repeated surgeries in this complex patient population.

Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md

Research Days

Background: The mortality of cardiac conditions in infancy is improving with advances in surgical planning and medical management. Neurologic morbidity remains significant. Clinically correlating an infant with their neurologic exam, MRI/EEG, and subsequent developmental testing remains a challenge. Counseling regarding neurologic outcomes after cardiac intervention is difficult due to the wide range of findings that can sometimes be clinically irrelevant.

Purpose: The goal of this study is to identify factors associated with poor neurodevelopmental outcomes in infants with critical congenital heart defects (CCHD) as assessed by the Bayley Scales of Infant and Toddler Development Edition IV (Bayley).

Methods: This is …

Reexploring The Stress Trial: Subgroup Postoperative Outcomes Following Methylprednisolone For Infant Heart Surgery, Sudeep D Sunthankar, Kevin D Hill, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Jennifer S Li, Eric M Graham, Ashraf M Resheidat, Venugopal Amula, Mark S Bleiweis, Eric L Wald, Pirooz Eghtesady, John P Scott, Brett R Anderson, Michael F Swartz, Alexis Benscoter, William Ravekes, Prince J Kannankeril

Faculty, Staff and Students Publications

Objective Assess the association between intraoperative methylprednisolone and specific postoperative outcomes among subgroups undergoing infant heart surgery.

Design: Subpopulation analyses of The Steroids to Reduce Systemic Inflammation after Infant Heart Surgery trial, a double-blind randomized placebo-controlled trial.

Setting: 24 congenital heart centers.

Patients: Infants (< 1 year old) undergoing heart surgery with cardiopulmonary bypass. Patients stratified by Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery Congenital Heart Surgery (STAT) Mortality Category, age, gestational age, and presence of chromosomal or syndromic diagnosis (CSD).

Interventions: Methylprednisolone (30 mg/kg) versus placebo administered into cardiopulmonary bypass pump-priming fluid.

Measurements and main results: Outcomes included death, heart transplantation, mechanical circulatory support, reinterventions, and hospital length of stay. Ranked composite outcome (death, transplant, or one of 13 major complications) was compared between placebo and methylprednisolone for each subgroup using the win ratio. Methylprednisolone …

Ultrasonographic Appearance Of Suspected Zinner Syndrome, Wen Hao Luo, Jared Garfinkle, Jack Hennen, Robert Martin, Kathleen Deiling

Rowan-Virtua Research Day

Zinner syndrome (ZS) is a rare congenital condition characterized by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. ZS is suspected to be caused by the malformation of the mesonephric duct during embryogenesis. The incomplete migration of the ureteric bud results in ipsilateral renal agenesis and ejaculatory duct obstruction. The remaining gonad develops with inadequate seminal fluid drainage, leading to the formation of seminal vesicle cysts. ZS is often asymptomatic, leading to challenges in diagnosis, particularly in adolescents. Symptoms can include pain, dysuria, pollakisuria, perineal pain, epididymitis, and pain after ejaculation. Imaging plays …

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 …

Adherence To Follow-Up Among High-Risk Nicu Patients, Iryna Muryn, Susan Mbullah Ndimah, Lisa Renee Eiland, Tara Lozy

Rowan-Virtua Research Day

Background:

Preterm infants, especially those ≤32 weeks' gestational age (GA) are at increased risk of vision and hearing loss. Risks of both vision and hearing loss can be ameliorated and in some cases prevented by conscientious screening, follow up and treatment. Universally, infants ≤32 weeks are cared for in neonatal intensive care units and there is considerable confidence that screenings and treatment occur according to established guidelines. At hospital discharge, follow up responsibility shifts to infant caretakers likely resulting in reduced compliance.

Objective:

We aimed to determine if preterm infants at risk for vision and hearing loss, attended follow up …

Chemical Exposures In Utero: Phthalates And Congenital Heart Defects, Demi Poulathas

Rowan-Virtua Research Day

Background: Congenital heart defects (CHDs) are the most common type of birth defect. Approximately 80% of CHDs have unknown causes, and phthalates may play a contributing role. Phthalates are ubiquitous environmental chemicals used as plasticizers in a wide range of products, including cosmetics and electronic devices. After entering the body, phthalates bind to the progesterone receptor, which is necessary for fetal development. While multiple studies have explored environmental factors in CHD development, few have examined the effects of phthalates on CHDs in humans. Methods: A literature review was conducted to investigate the relationship between parental occupational phthalate exposure and the …

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 …

Clinical Characteristics And Outcomes Of Pediatric Staphylococcal Scalded Skin Syndrome (Ssss) At An Inner-City Tertiary Care Center, Nina Kb Gust Md, Ashley Frei Bs, Rebecca M. Adams Bs, Elika Ridelman Phd, Christina Shanti Md, Ronald Thomas Phd, Jocelyn Y. Ang Md

Medical Student Research Symposium

Introduction

Staphylococcal Scalded Skin Syndrome (SSSS) is a blistering skin condition caused by a toxin-producing staphylococcus species. Epidemiologic studies on pediatric SSSS in the United States are limited, with a reported incidence of 7.67 cases per million children and 45.1 per million infants. Immature renal function, lack of protective antibodies, and increased exotoxin target desmoglein-1 are hypothesized to increase incidence in younger children. We aimed to determine clinical and microbiological characteristics of pediatric SSSS and factors that could help predict disease severity.

Methods

A retrospective chart review was performed for admitted patients under 18 years old diagnosed with SSSS from …