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

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 …

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. …

Association Between Balloon Atrial Septostomy And Prostaglandin E1 Therapy Until Repair Of Transposition Of The Great Arteries In Neonates, Samantha Gilg, Sebastian Acosta, Rohit S Loomba, Claire Rizk, Gary E Stapleton, David Faraoni, Fabio Savorgnan

Faculty, Staff and Students Publications

In patients with transposition of the great arteries, the continuation of prostaglandin E1 is more frequent in patients with intact ventricular septum in comparison to patients with ventricular septal defect. Ballon atrial septostomy did not eliminate the need for prostaglandin E1 infusion until the time of surgery in both subgroups of patients.

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 …

Catheter-Based Fetal Cardiac Interventions, Betul Yilmaz Furtun, Shaine Alaine Morris

Faculty, Staff and Students Publications

Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial teratoma), and catheter-based procedures (e.g., fetal aortic valvuloplasty for aortic stenosis). This review focuses on the rationale, criteria for inclusion, technical details, and current outcomes of the three most frequently performed catheter-based FCI procedures: (1) aortic valvuloplasty for critical aortic stenosis (AS) associated with evolving hypoplastic left heart syndrome (HLHS), (2) atrial septal intervention for HLHS with …

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 …

The Molecular Basis Of Maple Syrup Urine Disease, Chloe Jensen

Senior Honors Theses

Maple syrup urine disease (MSUD) is a rare metabolic disorder that is caused by mutations in the branched chain alpha keto acid dehydrogenase enzyme complex (BCKDC). There are three main genes, the BCKDHA, BCKDHB, and DBT, that affect the BCKDC, all contributing to the onset of the disease. MSUD causes encephalopathy, neural deficits, maple syrup scented urine, coma, and even death if not treated due to the aggregation of branched-chain amino acids (BCAAs). There is currently no known cure for patients with MSUD, but the condition can be managed to improve quality of life. This review serves to examine MSUD …

Effects Of Exercise On The Cardiovascular Health Of Adolescents And Young Adults With Down Syndrome, Samarth Gupta

Rowan-Virtua Research Day

Introduction: It is known that the incidence of Down Syndrome has increased over time and that this condition is associated with congenital heart defects, lower cardiorespiratory capacity, and increased rates of obesity and type 2 diabetes. It has been shown that individuals who have congenital heart defects but not Down Syndrome have increased cardiorespiratory function after engaging in exercise. Unfortunately, the role of exercise in improving cardiovascular health outcomes among individuals with DS is not yet fully understood.

Results: Exercise has been found to improve several health outcomes among individuals with Down Syndrome. For example, moderate to vigorous treadmill exercises …

Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade

Rowan-Virtua Research Day

Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …

Case Report: A Case Of Ttp In The Ed, Brian F. Lim, Andrew Caravello, James A. Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report a case of a 54-year-old female who presented with mild shortness of breath, lower chest discomfort, fatigue, and weakness ongoing for several days and was diagnosed with thrombotic thrombocytopenic purpura (TTP). TTP is characterized by microangiopathic hemolytic anemia and thrombocytopenia due to either an inherited or immune-mediated reduction in von Willebrand Factor (VWF) cleaving protease ADAMTS13.

Patients presenting with non-specific symptoms is becoming increasingly common and initial bias could be to attribute symptoms to viral syndrome or upper respiratory tract infection. However, the differential for non-specific complaints is extensive and thorough review of labs and re-evaluations of patients …

Gut Microbiome And Nutrition Interplay In Regulating And Improving Autism Spectrum Disorder Related Social Symptoms, Irenonsen Juliet Eigbe, Christian Moya Gamboa, Jana Gjini, Jaydeep Mukherjee, Susrut Dube

Rowan-Virtua Research Day

The composition of the gut microbiome has been shown to play a role in the onset of neurological disorders, including Autism Spectrum Disorder(ASD). A small variety of recent research articles identify a possible link between onset and severity of ASD related behaviors and the composition of the gut microbiome. The purpose of this review is to identify gaps in the current understanding of the role that nutrition plays in changing the gut microbiome and subsequently altering the onset and severity of behavioral phenotypes in children with ASD. Inclusion criteria comprises peer-reviewed publications relating to children with autism. Exclusion criteria consists …

Factors Affecting Caregiver Burden In Informal Caregivers Of Patients With Autism Spectrum Disorder, Brian Joseph Mathew, Maduka Gunasinghe, Usmaan Al-Shehab, Samrat Gollapudi, Prince Patel, Maithri Goud

Rowan-Virtua Research Day

Individuals with Autism Spectrum Disorder (ASD) often require lifelong care to meet their daily needs, which is typically provided by informal sources like family members as well as formal caregivers from home health agencies. The persistent stress of raising a child with ASD can potentially lead to parental burnout, highlighting the importance of understanding the struggles faced by these caregivers. Clinicians must prioritize the well-being of both the individuals with ASD and their dedicated caregivers by gaining a comprehensive understanding of the challenges they encounter.

Our research aims to investigate and comprehend the specific challenges faced by caregivers of individuals …

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 …

The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra

Rowan-Virtua Research Day

Background: One in 36 children in the United States are diagnosed with Autism Spectrum Disorder (ASD). Although heritability of the condition ranges from 40 to 80%, other factors such as vitamin levels, may have a significant impact on the risk of development. These vitamins include D, B12, and B9.

Purpose: To assess the impact vitamin supplementation has on behaviors associated with ASD, and to determine which specific aspects of ASD may be improved with vitamin supplementation.

Methods: A literature review was performed. The search was utilized PubMed, JSTOR and Web of Science. Keyword strings included: “Vitamin D B12 B9 folate …

Vitamin Level Differences Across The Asd Spectrum, Rohan Mehra, Wendy F. Aita, Andrea Iannuzzelli

Rowan-Virtua Research Day

Background: In the United States, 2.7% of children are diagnosed with Autism Spectrum Disorder (ASD). Environmental factors such as vitamin levels, including D, B9, and B12, may have a significant impact on the risk of development. Children conceived in winter months, with low sunlight and Vitamin D levels, have a higher risk of developing ASD. Vitamin B12 deficiency is generally linked with an increased risk of neurodevelopmental disorders. Additionally, vitamin B9 deficiency of a mother during gestation is linked to a higher risk of her child developing ASD.

Purpose: To assess potential differences in vitamin levels between patients of differing …

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 …

Investigating The Link Between Preeclampsia/Eclampsia In Mothers And Cardiovascular Risk Among Their Neurodivergent Children, Jasmine Emanuel, Andrea Iannuzzelli, Venkateswar Venkataraman

Rowan-Virtua Research Day

Preeclampsia/Eclampsia are common gestational conditions among pregnant women. These individuals have hypertension after 20 weeks of gestation, proteinuria/end-stage organ disease, and may have seizures. These conditions can put the mother and fetus at risk.^1,2 A review of literature investigates whether an association exists between congenital heart defects (CHD), and maternal preeclampsia/eclampsia in the neurotypical and neurodivergent population. The Rowan-Virtua Regional Integrated Special Needs (RISN) Center patient population was used to investigate whether maternal preeclampsia/eclampsia is indicative of higher congenital heart disease (CHD) in their neurodivergent children to achieve better quality of care. As a first step towards exploring the …