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

The Silent Culprit: Factor V Leiden’S Covert Role In Recurrent Miscarriages And First-Time Thromboembolism, Tanner Aldous, Sarah Almarzooqi, Mingran Yu, Jeremy Ellis

Tower Health Research Day

No abstract provided.

The Increasing Prevalence Of Cleft Lip With Or Without Cleft Palate In The Rio Grande Valley Of Texas, Yossef Alsabawi, Aaron I. Dadzie, Tyler Torres, Elias Arellano, Paul A. Berry

Research Symposium

Background: Orofacial clefts are a subset of birth defects that include cleft lip with or without cleft palate (CLP) and cleft palate alone (CP). The treatment for orofacial clefts is surgical repair, ideally within the first six months of life. Their impacts on patients and families are various and substantial. Babies with orofacial clefts can have trouble with breastfeeding, speech, recurrent ear infections, and hearing loss as they age. Additionally, there is a significant economic burden, with the average repair costing nearly $20,000, not including the costs of medical devices, postoperative care, and rehabilitation. Additionally, children with orofacial clefts face …

A Novel, Minimally Invasive, Paper-Based Biomarker Assay For Molecular Diagnosis Of Preeclampsia, Tomi Taiwo

Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity

Preeclampsia is a severe pregnancy condition marked by high blood pressure and proteinuria that can strike at any point throughout pregnancy or immediately after birth. Although the exact cause of this disease is unknown, there are several symptoms associated. The goal of this study is focused on the evaluation of biomarker-based assays for molecular diagnosis of the condition in a sensitive and timely manner. This project involved the use of an immunoassay, fabricated serum samples, and a paper-based assay to assess the strength of the presence of the placental growth factor (PlGF). This was done to facilitate a proof-of-concept mechanism …

Development Of Schizophrenia In A Genetically Predisposed Individual Following Covid-19, Sung Kang, Jonathan Yuh, Timothy Wong

Rowan-Virtua Research Day

We present a patient who is a 56-year-old female with a psychiatric history of anxiety disorder and a medical history of hypercholesterolemia and hyperthyroidism, who was admitted to the hospital after a witnessed seizure at an inpatient psychiatric facility. This patient’s family history is significant for her mother experiencing unspecified psychotic disorder that required psychiatric hospitalization. Our patient was first admitted to the psychiatric hospital after exhibiting worsening paranoid delusions and hallucinations that began several months prior. The patient had reportedly begun locking herself in the restroom and screaming “get out, they’re spying on me”, referring to her next-door neighbors …

The Effects Of Prenatal Buprenorphine Exposure On The Neurobehavioral Development Of The Child, Zaineb Zubair, Maryam Zubair, Juan Alonso, Abdullah Zubair

Rowan-Virtua Research Day

Background: Current guidelines for pregnant women with substance use disorder advise prenatal maintenance of opioid agonist therapy with either buprenorphine or methadone. Despite this rise in prenatal opioid agonist therapy, little is known about the effect of prenatal buprenorphine on the neurobehavioral development of the child. This poses the question: does buprenorphine have a long-lasting effect on the central and peripheral nervous system development and behavior of children who were exposed prenatally?

Methods: A comprehensive literature review identified articles relating to prenatal buprenorphine and neurobehavioral outcomes. Article searches were conducted on PubMed and Dynamed. Publications from 2002 through November 2021 …

Inflammatory Marker Levels Among Patients Diagnosed With Autism Spectrum Disorder And Congenital Heart Defects, Patrick Pearce, Venkateswar Venkataraman, Andrea Iannuzzelli, Jennifer Lecomte

Rowan-Virtua Research Day

Autism Spectrum Disorder (ASD) and congenital heart defects (CHD) are conditions that both confer an immense increase in standard of care, and utilization of medical resources addressing comorbidities. One shared symptom that has been consistently cited is inflammation. This review sought to explore the levels of Tumor Necrosis Factor-𝞪 (TNF-𝞪) and Interleukin-6 (IL-6) between patients diagnosed as having either ASD or CHD. By compiling published data containing the mean values of these two inflammatory markers within these populations, it was shown that while both have significantly elevated levels compared to a phenotypically normal demographic, there is no significant difference between …

Association Of Prematurity And Urogenital Comorbidities With Postoperative Outcomes Of Ureteroneocystostomy For Vesicoureteral Reflux, Raeann Dalton, Young Son, Edward Wu, Leah Anderton, Matthew Eximond, Lance Earnshaw, Katelyn Klimowich, Gregory Dean

Rowan-Virtua Research Day

Background: It is estimated that 20-30% of congenital anomalies involve the kidney and ureter, and these rates are even higher in infants with low birth weights. Vesicoureteral reflux (VUR) occurs when there is a backflow of urine from the bladder to the kidney. Depending on severity, this condition may require surgical correction with ureteroneocystostomy (UNC). The impact of premature birth and presence of urogenital comorbidities on outcomes of UNC is not known. The objective of this study is to determine the relationship between premature birth and urogenital comorbidities with operative outcomes of UNC for VUR.

Methods: The 2020 American College …

Differential Degeneration Of Neurons In A Mouse Model Of Canavan Disease, Vibha Chauhan, Quy Nguyen, Jeremy Francis, Paola Leone

Rowan-Virtua Research Day

Canavan disease (CD) is an inherited leukodystrophy caused by inactivating mutations to the glial enzyme aspartoacylase (ASPA). ASPA catabolizes neuronal N-acetylaspartate (NAA) into free acetate and aspartate and loss of this function results in the chronic elevation of non-catabolized NAA and the failure of developmental myelination. Elevated NAA is thought to cause damage to myelin and myelin-producing cells (oligodendrocytes, but the viability of neurons in CD is relatively unexplored. We compare here the progressive degeneration of neurons in two regions of the CD mouse brain, the thalamus and the cortex, distinguished by differing degrees of vacuolation, and show that the …

Case Report: Uterine Torsion – A Rare Cause Of Right Lower Quadrant Pain, David Ho, James Jung Lee, James Espinosa

Rowan-Virtua Research Day

Uterine torsions are very rare. In an article by Matsumoto et al published in 2021, only 25 cases have been documented on PubMed in non-gravid females in the past 20 years. Uterine torsion is defined as rotation of the uterus greater than 45 degrees in the long axis. Rotation can occur anywhere between 45 degrees to 180 degrees. The torsion can be due to a congenital anomaly or an obstetrics emergency such as with an ovarian torsion. Uterine torsions presenting as an obstetrics emergency carries the potential for irreversible ischemic damage to the uterus, and just as in ovarian torsion, …

Congenital L-Transposition Of The Great Arteries In A 12-Year-Old: A Case Report, Muhammad Noman

Rowan-Virtua Research Day

Levo-transposition of the great arteries, L-TGA, also known as congenitally corrected transposition, cc-TGA is a rare anomaly and accounts for less than 1% of all congenital heart diseases. It is characterized by both atrioventricular and ventriculoarterial discordance . It is considered a congenitally corrected transposition because the circulation is from right atrium to left ventricle leading to the pulmonary vasculature. The lungs then pump blood into the left atrium to the right ventricle and eventually to the systemic circulation via the aorta.

Is There An Association Between Preeclampsia/Eclampsia And Congenital Heart Disease Among The Neurodivergent Population?, Jasmine Emanuel, Venkateswar Venkataraman, Jennifer Lecomte, Andrea Iannuzzelli

Rowan-Virtua Research Day

Preeclampsia and eclampsia are very common gestational conditions among pregnant individuals worldwide. These individuals are diagnosed with high blood pressure (after 20 weeks of gestation), proteinuria/end-stage organ disease, and may include seizures. These conditions can put the mother and fetus at risk. A review of literature has shown that there is an association between cardiovascular defects among the neurodivergent population, where these individuals have a higher risk of developing atrial septal defects and ventricular septal defects. The Rowan-Virtua Integrated Special Needs (RISN) Center patient population will be used to investigate whether preeclampsia/eclampsia in mothers is indicative of higher congenital heart …

A Hidden Cause For Electrolyte Derangement In The Ed: Gitelman Syndrome, Alexis Dunn, James Espinosa, Alan Lucerna, Kevin Dwyer

Rowan-Virtua Research Day

Electrolyte derangements are a common finding in the emergency department, whether incidental or the cause for presenting symptoms. Gitelman syndrome (GS) can be the cause for recurrent hypokalemia and hypomagnesemia. While often diagnosed when the patient is young, a clinician should keep this on the differential when seeing repeated visits with electrolyte deficiencies and treating them. Here we discuss a case of how Gitelman syndrome has presented in the ED and what to learn from it.

Case Report: How A Vallecular Cyst Could Have Become An Airway Emergency, Adam Kandil, Robin Lahr, Andrew Caravello

Rowan-Virtua Research Day

Vallecular cysts, also known as epiglottic mucous retention cysts are known to be generally self-limiting laryngeal lesion. They can however also be associated with airway obstruction, and dysphagia in infants. In adults, they are usually asymptomatic, and usually incidentally diagnosed. At times they are diagnosed during rapid sequence intubation, as they may contribute to endotracheal intubation difficulty. Moreover, there is question as to the correlation between vallecular cysts and the incidence of acute epiglottitis, as a vallecular cyst may become infected and cause a localized expansion of inflammation and infection. This expansion from the vallecula progresses to epiglottis.

Paradoxical Dat In A Term Newborn With Physiological Jaundice, Abiram Sivanandam, Tomas Rotschild

Rowan-Virtua Research Day

The Direct Antigen Test (DAT) is used to find out if a newborn has maternally-produced antibodies against the newborn’s red blood cells. We discuss the case of a term newborn male with an O+ blood type born to a mother whose blood type is A+. As a part of routine screening, DAT of umbilical cord blood was obtained, which resulted positive. While the neonate had jaundice, the overall clinical picture pointed more toward neonatal physiological jaundice rather than a potential hemolytic anemia expected with a positive DAT. This discrepancy prompted us to review literature to explain our findings.

A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra Mccarty

Research Days

Background: Triosephosphate isomerase deficiency (TPID) is a glycolytic pathway enzymopathy causing hemolytic anemia and neurologic dysfunction. TPID is caused by mutations in the TPI1 gene. These patients experience severe hemolytic anemia in infancy followed by progressive neurodegeneration. Diagnosis of TPID is made by measuring decreased TPI enzyme activity elevated dihydroxyacetone phosphate (DHAP) levels in the blood. The diagnosis is confirmed by molecular genetic testing. Neurological involvement typically manifests between 6 and 24 months of age, causing progressive motor dysfunction. Chronic axonal neuropathy is often present on nerve biopsy, and peripheral neuropathy is evident on electrophysiologic studies. Splenectomy and blood transfusions …

Sigirr Variants Identified In Nec Infants Exaggerate Toll-Like Receptor Mediated Inflammation, Jennie Godwin

Research Days

Background: A key event underlying uncontrolled inflammation in necrotizing enterocolitis (NEC) is pathologic activation of Toll-like receptors (TLR). TLR4 recognizes lipopolysaccharide (LPS), from Gramnegative bacteria, and TLR2 peptidoglycans (PAM3Csyk4, PAM), from Gram-positive bacteria. TLR4 and TLR2 signaling events induce an inflammatory cascade through NF-kB, a cytokine inducing transcription factor. Single-immunoglobulin interleukin-1-related receptor (SIGIRR) is a major negative regulator of TLR-mediated NF-kB activation. Previous work from our lab suggests that loss of function in SIGIRR may predispose to NEC. Our lab has identified four variants in NEC patients predicted to alter function of SIGIRR. We hypothesized that identified SIGIRR variants will …

Adrenoleukodystrophy (Ald), Oluwatomilola Taiwo, David Youssef, James Landis, Karma Pace

Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity

First reported case in 1910, ALD results in serious cognitive and developmental issues. Adult form reported in 1976. Gene of cause identified in 1993 by Mosser et al. X-linked, mutation on ABCD1 gene codes for VLCFA transporter. More likely to occur in males. To be diagnosed with ALD, persons must show signs and symptoms of motor neuron degeneration in both the upper and lower motor neurons that cannot be explained by other factors. There is no single test that can definitively diagnose ALD; instead, the diagnosis is dependent on the symptoms and signs that the physician observes in the patient. …

A Case Of Protein Losing Enteropathy After Fontan Operation, Gina Kim

Capstone Showcase

Protein Losing Enteropathy (PLE) is a condition in which an excessive amount of proteins are lost through the gastrointestinal tract leading to hypoproteinemia and manifesting as edema, ascites, and diarrhea. While in most cases PLE is a treatable disorder with good outcomes, the morbidity and mortality of the disorder is significantly elevated in patients with a history of Fontan surgery–an operation used to palliate patients born with a single ventricle by rerouting venous blood return directly to pulmonary circulation. After failure of first-line therapeutics of diuretics and steroids, this case study explores the successful treatment of a 5-year-old patient with …

Using Parameter Estimation For Mathematical Model Predicting Pediatric Scd Pain, Quindel Jones

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.

Outcomes Of Infants With Severe Rop At Risk Of Treatment With Avastin Compared To Laser Surgery, Stephen Doxey

Research Days

Background: Retinopathy of prematurity (ROP) is a well-known complication occurring in the most premature infants leading to visual impairment and in the most severe cases associated with retinal detachment and childhood blindness. Factors contributing the development of ROP include chronic hypoxia and disordered vascular genesis primarily through the vascular endothelial growth factor (VEGF) signaling pathway. Infants at risk of developing ROP are screened with serial eye exam and treated with either laser surgery or intraocular injects of bevacizumab (Avastin) to prevent progression of ROP and preserve vision. Bevacizumab, an inhibitor of VEGF signaling, may have positive effects on preventing ROP …

Activation Of Aryl Hydrocarbon Receptor Signaling In Human Trophoblasts Alters Markers Of Growth And Differentiation, Asmaa Alsousi

Research Days

Background: It is estimated that 1.7% of pregnant women smoke during their pregnancy globally, with the highest levels observed in Europe at 8.1%, and lowest in Africa at 0.8. The association of maternal cigarette smoking with increased risk of poor birth outcomes such as preterm birth, congenital anomalies, and neonatal mortality is well-established. In addition, evidence suggests that intrauterine exposure to maternal smoking impacts the risk of developing diseases later in life; however, we still do not understand the exact mechanism(s) leading to these outcomes. Once components of cigarette smoke (CS) cross the placenta and enter the fetal compartment, several …

Tricuspid Atresia With Totally Anomalous Pulmonary Venous Connection: An Uncommon Finding, Anmol Goyal

Research Days

Background: Tricuspid atresia comprises 3-4% of all congenital heart disease (CHD). Anatomic findings are no true connection between the right atrium (RA) and right ventricle (RV) with concomitant findings of a ventricular septal defect (VSD), right ventricular hypoplasia, abnormalities of right ventricular outflow tract, pulmonary valve and pulmonary arteries. Common associated lesions have been described including transposition of great vessels, hypoplasia of aortic arch, double outlet ventricle or a common arterial trunk. Total anomalous pulmonary venous connection (TAPVC) is relatively rare and we present a case in addition to the six previously described cases in literature.

Case: A 33-year-old woman …

Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally

Rowan-Virtua Research Day

Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.

Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.

Results: A …

Ethnic Differences In Maternal Cytokines And Adipokines And Their Association With Spontaneous Preterm Delivery, Yelizavet D. Lomakova, Xinhua Chen

Rowan-Virtua Research Day

Spontaneous preterm delivery (SPTD, birth at <37 weeks’ gestation) is a leading cause of infant mortality in the United States [1]. Infants born prematurely are more likely to suffer from both short and long-term complications including neurodevelopmental delay, visual and hearing impairment, and chronic diseases such as heart disease, hypertension and diabetes in later life [2-4]. African American women have a 2-fold increased risk of preterm delivery compared to Caucasian women [5].The reasons for this disparity are poorly understood. This limits the ability to predict and prevent preterm delivery in the most high-risk populations.

Similac Special Care And Elecare Cause Neonatal Gut Injury In Mice, Karishma Rao, Heather L. Menden, Wei Yu, Inamul Haque, Susana Chavez-Bueno, Alain C. Cuna, Shahid Umar, Venkatesh Sampath

Research Days

No abstract provided.

Clinical Validation And Diagnostic Rate/Outcomes Of A Dual Molecular Diagnostic Assay For Myotonic Dystrophy 1., Maxime Cadieux-Dion, Isabelle Thiffault, Midhat S. Farooqi, Joseph Alaimo

Research Days

No abstract provided.

Two Cases Of Severe Combined Immunodeficiency Disease With No Known Variants Identified In Genes Associated With Immunodeficiencies, Megan H. Tucker

Research Days

No abstract provided.

Tetralogy Of Fallot: A Clinical Review, Jacob Wooten, Joshua Bahos Silva

Student Scholar Showcase

Tetralogy of Fallot is a congenital heart disease that is associated with structural abnormalities during fetal development 1. The incidence of Tetralogy of Fallot in the United States is approximately 3-5 cases per 10,000 live births and is considered one of the most common cyanotic congenital heart diseases 2. The exact etiology of Tetralogy of Fallot is unknown, however it is thought to be associated with untreated maternal diabetes, maternal use of retinoids, as well as chromosomal abnormalities 2. The main components of this disease state include a right ventricular outflow obstruction, interventricular communication in the form of a ventricular …

Comparing Open And Fetoscopic Fetal Surgical Repairs Of Myelomeningocele, Kyra Isaacs

Capstone Showcase

Introduction: There have been great advances in the treatment of myelomeningocele (MMC) spina bifida in the past 20 years. An open surgical repair in-utero has been shown to reduce mortality and morbidity, specifically decreasing the rate of shunt placement and hindbrain herniation compared to a postnatal surgical approach. However, this surgery introduced risks to the mother that were never a consideration in previous surgical approaches.

Methods: This paper compares research on new minimally invasive fetoscopic surgical techniques to open fetal surgery in the prenatal repair of MMC. Searches in PubMed and Clinical Key were conducted to produce papers published on …

The Effects Of Antenatal Betamethasone On Late Preterm Infants, Jennifer Hummel D.O., Abigail Prest D.O., Xinhua Chen M.D.

Rowan-Virtua Research Day

Administration of steroids to mothers expected to deliver in the late preterm period has previously been found to decrease neonatal respiratory morbidity. In this retrospective chart review, there were no significant differences between groups in the primary outcome of required respiratory support for the neonate, incidence of periventricular hemorrhage or neonatal death. However, this study found that their rate of hyperbilirubinemia, need for phototherapy, and NICU stays were longer than their counterparts whose mothers did not receive steroids or who only received one dose.These findings may provide support for future protocols directed to improve neonatal morbidity secondary to jaundice.