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

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.

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.

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 …

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 …

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 …

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 …

Poland Syndrome And The Sensorimotor Cortex: An Untapped Possibility For Research, Ace Laikind

Scholarly Horizons: University of Minnesota, Morris Undergraduate Journal

Poland syndrome is a rare disorder that unilaterally affects the chest, arms, and hands. Despite being a limb disorder, there has not been research done on how Poland syndrome interacts with the sensorimotor cortex. Other limb disorders have documented connections to the sensorimotor cortex, and can be used to infer how Poland syndrome affects the sensorimotor cortex. Limb disorders with extensive research on the sensorimotor cortex are phantom limb syndrome, focal hand dystonia, and congenital one-handedness. Additionally, to accommodate for the confound created by the differences between congenital and acquired conditions, blindness and its effects on plasticity can be examined. …

Deciphering The Contribution Of Microglia To Neurodegeneration In Friedreich's Ataxia, Sydney N. Gillette

Master's Theses

Friedreich's ataxia (FRDA) is the most prevalent inherited ataxia, affecting one in every 50,000 individuals in the United States. This hereditary condition is caused by an abnormal GAA trinucleotide repeat expansion within the first intron of the frataxin gene resulting in decreased levels of the frataxin protein (FXN). Insufficient cellular frataxin levels results in iron accumulation, increased reactive oxygen species production and mitochondrial dysfunction. Tissues most heavily impacted are those most dependent on oxidative phosphorylation as an energy source and include the nervous system and muscle tissue. This is evident in the clinical phenotype which includes muscle weakness, ataxia, neurodegeneration …

Immunopathogenesis Of Post-Infectious Hydrocephalus, Sascha Powers Bernier

Honors Scholar Theses

Hydrocephalus is characterized by the abnormal accumulation of cerebrospinal fluid (CSF) within the brain ventricles. In post-infectious hydrocephalus (PIH) cases, the condition presents challenges in understanding the immune response. PIH is a complex condition, often persisting after the initial infection is treated and thus requiring a deeper understanding of the immune mechanisms involved in its development. This thesis will explore the immunopathogenesis of PIH, elucidating the relationship between the immune response and neurological complications that would succeed infection. The immune response of PIH includes a series of events, beginning with the activation of immune cells and finishing with the release …

Bronchopulmonary Dysplasia: Pathophysiology And The Effects Of The Microbiome, Anjali Jacob

Senior Honors Theses

Bronchopulmonary dysplasia (BPD) is a chronic neonatal lung disease that occurs in over 50% of premature infants. BPD is characterized by damage to the alveoli and bronchioles and improper vasculature formation. It is primarily caused by overexposure to oxygen through mechanical ventilation, but there are other risk factors that make infants more susceptible to BPD. Microbial composition impacts risk for developing BPD, and research is ongoing about the effects of the microbiome on BPD pathogenesis; this information is also valuable for preventative treatment. This paper reviews the normal function of the lungs, pathogenesis of BPD and how it affects normal …

Healing Horses: An Occupational Therapy Approach In An Equine Environment, Ashlyn Renee Yoder

Occupational Therapy Capstone Presentations

Aim: This project focused on the development of advanced clinical skills of OT-based hippotherapy in a pediatric setting and program development of the Genesis Therapeutic Riding Center. Information was gathered from primary and secondary sources to promote student skill acquisition, client goal progress, and parent-caregiver education of at-home interventions.

Objective: Goals focused on gaining knowledge and competencies of OT-based hippotherapy, key clinical information, and interdisciplinary roles. The purpose of this project was to highlight the impact of staff responsibilities and OT-based hippotherapy on physical and cognitive deficits.

Method: OT hippotherapy session observation and facilitation, extensive literature review, and multidisciplinary interviews …