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 …

Optimizing Pharmacologic Treatment For Neonatal Opioid Withdrawal Syndrome (Optimize Now): A Symptom-Based Dosing Approach Study Protocol For A Multi-Center, Cluster Crossover Design Randomized Controlled Trial, Leslie W. Young, Denise C. Babineau, Abhik Das, Sara Demauro, Walter K. Kraft, Scott Lorch, Michele C. Walsh, Stephanie Merhar, Lori A. Devlin

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

BACKGROUND: Opioid use and misuse during pregnancy rose from 1.5 to 6.5 per 1000 deliveries between 1999 and 2014 and continues as a significant public health concern. A fivefold increase in neonatal opioid withdrawal syndrome (NOWS) has accompanied the increase in opioid use. The Eating, Sleeping, Consoling care approach (ESC) has been shown to improve outcomes for infants with NOWS and is quickly becoming the standard of care for infants affected by opioid use disorder. Quality improvement initiatives following the implementation of ESC provide some evidence to suggest that symptom-based (i.e., as needed, PRN, just in time) dosing of opioid …

Bayesian Population Pharmacokinetic Modeling Of Ondansetron For Neonatal Opioid Withdrawal Syndrome, Kevin Lam, John Mondick, Gary Peltz, Manhong Wu, Walter Kraft

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Ondansetron is an anti-emetic 5-HT3 receptor antagonist being investigated for treating neonatal opioid withdrawal syndrome (NOWS). Sparse PK data were analyzed from a multicenter, double-blind clinical trial with 98 mother/neonate dyads. Pregnant women with opioid use disorder were randomized to receive either placebo or ondansetron 8 mg intravenously within 4 h of delivery. Neonates born to mothers who were randomized to ondansetron received 0.07 mg/kg orally once every 24 h for up to five doses. Using current PK data, model parameters from a two-compartmental structural model from the literature (i.e., a priori model) were updated with the Metropolis-Hastings Markov-chain Monte …

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

South Atlantic Division GME Research Day 2025

No abstract provided.

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.

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 …

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 …

The Effect Of Cesarean Delivery On The Neonatal Gut Microbiome In An Under-Resourced Population In The Bronx, Ny, Usa, Sandra E Reznik, Ayodele J Akinyemi, David Harary, Mariam S Latuga, Mamta Fuloria, Maureen J Charron

SKMC Student Presentations and Publications

BACKGROUND: Neonatal and early-life gut microbiome changes are associated with altered cardiometabolic and immune development. In this study, we explored Cesarean delivery effects on the gut microbiome in our high-risk, under-resourced Bronx, NY population.

RESULTS: Fecal samples from the Bronx MomBa Health Study (Bronx MomBa Health Study) were categorized by delivery mode (vaginal/Cesarean) and analyzed via 16 S rRNA gene sequencing at four timepoints over the first two years of life. Bacteroidota organisms, which have been linked to decreased risk for obesity and type 2 diabetes, were relatively reduced by Cesarean delivery, while Firmicutes organisms were increased. Organisms belonging to …

Addressing Disparities In Pediatric Congenital Heart Disease: A Call For Equitable Health Care, Devyani Chowdhury, Pietro A Elliott, S Yukiko Asaki, Shahnawaz Amdani, Quang-Tuyen Nguyen, Christina Ronai, Seda Tierney, Victor Y Levy, Kriti Puri, Carolyn A Altman, Jonathan N Johnson, Julie S Glickstein

Faculty, Staff and Students Publications

While significant progress has been made in reducing disparities within the US health care system, notable gaps remain. This article explores existing disparities within pediatric congenital heart disease care. Congenital heart disease, the most common birth defect and a leading cause of infant death, has garnered substantial attention, revealing certain disparities within the US health care system. Factors such as race, ethnicity, insurance coverage, socioeconomic status, and geographic location are all commonalities that significantly affect health disparities in pediatric congenital heart disease. This comprehensive review sheds light on disparities from diverse perspectives in pediatric care, demonstrates the inequities and inequalities …

Frequency Of Treatment Failure Of Utis In Children With Congenital Urinary Tract Anomalies, Catherine S Forster, Alexis C Wood, Stephanie Davis-Rodriguez, Pearl W Chang, Sanyukta Desai, Michael Tchou, John M Morrison, Jamie D Mudd, Brittany D Casey, Victor Trevisanut, Rana F Hamdy, Vijaya Vemulakonda, Patrick W Brady, Sowdhamini S Wallace, Uti In Children With Cakut Study Group

Faculty, Staff and Students Publications

OBJECTIVES: Children with certain congenital anomalies of the kidney and urinary tract and neurogenic bladder (CAKUT/NGB) are at higher risk of treatment failure for urinary tract infections (UTIs) than children with normal genitourinary anatomy, but the literature describing treatment and outcomes is limited. The objectives of this study were to describe the rate of treatment failure in children with CAKUT/NGB and compare duration of antibiotics between those with and without treatment failure.

METHODS: Multicenter retrospective cohort of children 0 to 17 years old with CAKUT/NGB who presented to the emergency department with fever or hypothermia and were diagnosed with UTI …

Risk Stratification By Percent Liver Herniation In Congenital Diaphragmatic Hernia, Oluyinka O Olutoye, Steven C Mehl, Anoosha Moturu, Rowland W Pettit, Ryan D Coleman, Adam M Vogel, Timothy C Lee, Sundeep G Keswani, Alice King

Faculty, Staff and Students Publications

INTRODUCTION: Congenital diaphragmatic hernia is associated with pulmonary hypoplasia, pulmonary hypertension, and significant neonatal morbidity. Although intrathoracic liver herniation (LH) >20% is associated with adverse outcomes, the relationship between LH

METHODS: A single-center retrospective cohort study was performed from 2011 to 2020 of 80 fetuses with left-sided congenital diaphragmatic hernia that were delivered and repaired at our institution. Perinatal, perioperative, and postoperative data were collected. We evaluated the association of %LH with outcomes as a stratified ordinal variable (0%-10% LH, 10%-19% LH, and >20% LH) and as a continuous variable. Data were analyzed by analysis of variance with Bonferroni post …

Lmod2-Related Dilated Cardiomyopathy Presenting In Late Infancy, Erica Lay, Mahshid S Azamian, Susan W Denfield, William Dreyer, Joseph A Spinner, Debra Kearney, Lilei Zhang, Kim C Worley, Weimin Bi, Seema R Lalani

Faculty, Staff and Students Publications

Leiomodin-2 (LMOD2) is an important regulator of the thin filament length, known to promote elongation of actin through polymerization at pointed ends. Mice with Lmod2 deficiency die around 3 weeks of age due to severe dilated cardiomyopathy (DCM), resulting from decreased heart contractility due to shorter thin filaments. To date, there have been three infants from two families reported with biallelic variants in LMOD2, presenting with perinatal onset DCM. Here, we describe a third family with a child harboring a previously described homozygous frameshift variant, c.1243_1244delCT (p.L415Vfs*108) with DCM, presenting later in infancy at 9 months of age. Family history …

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 …

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.

Increased Birth Weight Is Associated With Altered Gene Expression In Neonatal Foreskin, Leryn J. Reynolds, Rebecca I. Pollack, Richard J. Charnigo, Cetewayo S. Rashid, Arnold J. Stromberg, Shu Shen, John O'Brien, Kevin J. Pearson

Pharmacology and Nutritional Sciences Faculty Publications

Elevated birth weight is linked to glucose intolerance and obesity health-related complications later in life. No studies have examined if infant birth weight is associated with gene expression markers of obesity and inflammation in a tissue that comes directly from the infant following birth. We evaluated the association between birth weight and gene expression on fetal programming of obesity. Foreskin samples were collected following circumcision, and gene expression analyzed comparing the 15% greatest birth weight infants (n = 7) v. the remainder of the cohort (n = 40). Multivariate linear regression models were fit to relate expression levels on differentially …

Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.