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

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.

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 …

Acute On Chronic Rheumatic Valvulitis, Natalie K Craik, Joseph Burns, Nirica Borges, Tam T Doan, Amy E Sanyahumbi, Edward J Hickey, Debra L Kearney, Ryan H Rochat, Eyal Muscal, Thomas Glenn

Faculty, Staff and Students Publications

An 11-year-old boy presented in distress with tachypnea, holosystolic murmur, and a gallop. Echocardiography revealed mitral valve thickening and severe regurgitation. He required valve replacement with pathology consistent with acute on chronic valvulitis. This case underscores the importance of considering rheumatic heart disease, despite no preceding suspicious history.

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 …

Employing Multi-Omics Analyses To Understand Changes During Kidney Development In Perinatal Interleukin-6 Animal Model, Ganesh Panzade, Tarak Srivastava, Daniel P. Heruth, Mohammad H. Rezaiekhaligh, Jianping Zhou, Zhen Lyu, Mukut Sharma, Trupti Joshi

Biomedical Sciences

Chronic kidney disease (CKD) is a leading cause of morbidity and mortality globally. Maternal obesity during pregnancy is linked to systemic inflammation and elevated levels of the proinflammatory cytokine interleukin-6 (IL-6). In our previous work, we demonstrated that increased maternal IL-6 during gestation impacts intrauterine development in mice. We hypothesized that IL-6-induced inflammation alters gene expression in the developing fetus. To test this, pregnant mice were administered IL-6 or saline during mid-gestation. Newborn mouse kidneys were analyzed using mRNA-seq, miRNA-seq and whole-genome bisulfite-seq (WGBS). A multi-omics approach was employed to quantify mRNA gene expression, miRNA expression and DNA methylation, using …

Knowledge And Confidence Of Obstetrics And Gynecology Residents In The Evaluation And Management Of Heavy Menstrual Bleeding Due To Inherited Bleeding Disorders, Patricia S. Huguelet, Irmel A. Ayala, Laurel Beaty, Christina Bemrich-Stolz, Claudia Borzutzky, Tazim Dowlut-Mcelroy, Sweta Gupta, Kendra Hutchens, Corinna L. Schultz, Lakshmi Srivaths, Maria C. Velez, Neeraja Swaminathan

School of Medicine Faculty Publications

BACKGROUND: Heavy menstrual bleeding (HMB) is common, and 20-30% of patients presenting with HMB are diagnosed with an inherited bleeding disorder (IBD). Despite the frequent association of HMB with bleeding disorders, specific learning objectives on this topic are lacking for Obstetrics and Gynecology (OBGYN) residents. OBJECTIVE: We sought to determine the exposure of OBGYN residents to didactics, clinical training, and confidence in evaluation and management of patients with HMB due to IBDs. METHODS: Prospective survey of OBGYN residents through email solicitation. Residents were invited to complete an anonymous 26-item survey, querying residents' confidence in evaluation and management of HMB in …

Hereditary Spherocytosis Due To A Novel Variant, P.Q1034x, In The Beta Subunit Of The Spectrin Gene: A Case Report, Emmalee M. Kugler, Akash Patel, Faraz Afridi, Maria I. Scarano, Rafat Ahmed

Department of Emergency Medicine Faculty Papers

Background: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell osmotic fragility and decreased fluorescence on the eosin-5′-maleimide binding test. For his failure to thrive and hypotonia, genetic sequencing revealed a de novo variant of the SPTB gene (p.Q1034X) on exon 15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A variant of uncertain significance (p.R438W) in the chondroitin sulfate synthase 1 (CHSY1) gene …

Mitral Annular Disjunction And Its Progression During Childhood In Marfan Syndrome, Tam T Doan, Alejandra Iturralde Chavez, Santiago O Valdes, Justin D Weigand, James C Wilkinson, Anitha Parthiban, Sara B Stephens, Ricardo H Pignatelli, Shaine A Morris

Faculty, Staff and Students Publications

AIMS: Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse. To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood.

METHODS AND RESULTS: We included patientsMFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2 mm, MV prolapse (MVP) as atrial displacement ≥2 mm. Kappa coefficients evaluated echocardiogram-CMR agreement. Bland-Altman …

Right Ventricle-Pulmonary Artery Conduit Replacement Resolves Anomalous Single Coronary Stenosis In Repaired Tetralogy Of Fallot, Karl Kristian Lundin, Edward Hickey, Prakash Masand, Vivian Dimas, Katherine Bohard Salciccioli

Faculty, Staff and Students Publications

A 41-year-old man with repaired tetralogy of Fallot and a single coronary artery (CA) arising anteriorly presented with dyspnea in the setting of moderate right ventricle-pulmonary artery conduit (RV-PAC) stenosis and moderate-to-severe extrinsic left main CA compression between the aorta and RV-PAC. His CA stenosis resolved after successful RV-PAC replacement.

Efficacy Of Probiotics In Decreasing Rates Of Necrotizing Enterocolitis And Sepsis In Preterm Neonates, Valisa K. Teekadharry

Theses and Graduate Projects

Background: The incidence of preterm infants developing serious infections is a common finding in many neonatal intensive care units. Probiotics have been a supplement that has been used by numerous people to improve the microbiota of the intestine for prevention of infection.

Purpose: The purpose of this literature review is to explore the efficacy of using probiotics in preterm infants for prevention of serious infections such as necrotizing enterocolitis (NEC) and sepsis.

Methods: A comprehensive literature review was conducted using Lindell Library, Pub Med, Science Direct and Google Scholar. Using the search terms probiotics, probiotics in premature infants, probiotics and …

Association Between Agrichemical Mixtures And Pediatric Health Outcomes: Evidence From A Nebraska Population-Based Surveillance, Jabeen Taiba

Theses & Dissertations

Human exposure to environmental contaminants is associated with various pediatric health outcomes. Agrichemicals are a significant environmental risk factor for childhood cancers and congenital anomalies, and reduced exposure could improve pediatric health outcomes. Previous studies in Nebraska have explored the association between single pollutants and pediatric cancers and birth defects. However, it is important to estimate the overall effect of the agrichemical mixture on these pediatric health outcomes. In addition to environmental risk factors, several social vulnerability factors also contribute to increased agrichemical exposure and show disparities in pediatric cancers and birth defects. The objectives of this dissertation are to …

Genomic Data Science Approaches For Understanding Human Diseases, Snehal Shah

All Dissertations

The intricate interplay of genetic predisposition, environmental influences, and lifestyle acts as the multifactorial landscape of diseases. Understanding this complexity presents a significant challenge. Molecular insights into disease mechanisms, particularly the interactions of DNA, RNA, and proteins with environmental and lifestyle factors, have revolutionized disease diagnosis, prognosis, and treatment. High-throughput technologies, such as next-generation sequencing, generate large amounts of molecular data, holding a wealth of knowledge. These datasets unveil the roles of genes and their interactions with various factors through analysis, shedding light on previously unknown molecular mechanisms underlying disease pathogenesis. Furthermore, they facilitate the discovery of biomarkers crucial for …