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

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 …

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.

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 …

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.

Identifying Cystic Fibrosis (Cf) Skeletally: A Proposed Differential Diagnosis, Clare Remy

EURēCA: Exhibition of Undergraduate Research and Creative Achievement

Cystic fibrosis (CF) is an inherited disorder that affects the mucosal lining of the lungs and digestive system due to a defective gene that causes blockages of tubes, ducts, and passageways. The type of mutation correlates with the severity of the condition, but with modern medicine individuals can live into their 50s. We propose a differential diagnosis for identifying CF in the skeleton based on bony pathologies that occur in higher frequency in CF patients. CF patients exhibit chronic sinusitis, clubbing of hands and feet, vertebral fractures/collapse and abnormal curvature, significantly shorter stature, lower bone density, rib fractures, and an …

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the life of …

Inhibition Of Tnf-Alpha Decreases Microglia Activation In Rats Neonatally Treated With Poly I:C, Heath W. Shelton, Russell W. Brown

Appalachian Student Research Forum

Introduction: Current medical treatment for individuals diagnosed with schizophrenia (SCHZ) primarily relies on the inhibition of the dopamine D₂ receptor that has been shown to be supersensitive in these patients. Treatment occurs through the use of antipsychotic medication which leads to a number of debilitating dose-dependent side effects, such as weight gain, agranulocytosis, and seizures. Patients diagnosed with SCHZ have also been shown to have increased inflammation in their central nervous system (CNS), particularly within specific brain regions such as the prefrontal cortex and hippocampus. This is in large part due to the interaction between a pro-inflammatory cytokine called …

Examining A Relationship Between Chronic Dietary Folic Acid Deficiency And Activation Of P53 Gene In Down Syndrome Ts65dn Mice, Julia Thomas, Susan E. Helm Phd, Jay Brewster

Seaver College Research And Scholarly Achievement Symposium

Seaver Undergraduate Research

Virus-Host Co-Evolution: Determining The Origin Of Human Cytomegalovirus Us27 And Us28, Jessica A. Scarborough, Juliet Spencer, John Paul

Creative Activity and Research Day - CARD

G protein-coupled receptors (GPCR) are the largest family of cell surface proteins, found in organisms from yeast to humans. Human cytomegalovirus (HCMV) is a widespread pathogen that is particularly skilled at evading immune detection and defense mechanisms, largely due to extensive co-evolution with its host’s immune system. One aspect of this co-evolution involves the acquisition of four virally encoded GPCR homologs: US27, US28, UL33 and UL78. In this research, phylogenetic analysis was used to investigate the origins of the US27 and US28 genes, which are adjacent in the viral genome. The results indicate that both US27 and US28 share the …

Sickle Cell Disease Among African-American Children: Exploring Relevant Literature And Identifying Research Needs, Dawana Owens

Georgia State Undergraduate Research Conference

No abstract provided.

Should Designer Babies Be Regulated?, Alec Madriaga, Natasha Bates

Festival of Communities: UG Symposium (Posters)

Designer babies have been frequently used to help prevent genetic defect of offspring. The two main procedures that can help prevent offspring of having a genetic defect is by IVF, In Vitro Fertilization, or PGD, Preimplantation Genetic Disorder. It is a topic currently being debated ethically on whether it is okay to design a baby and how far people may take the procedures to design a baby before it gets out of hand. Two sides can be approached to this topic: Should designer babies be regulated or should it not be regulated? A concern that is plaguing the minds of …

When Old-Order Amish Meet New Order Science: Genetic Maladies And The Amish Dilemma, Kelley Downey

Undergraduate Research Conference

The Old World Amish, an Anabaptist Christian domination in the United States and Canada are know for their plain dress, avoidance of modern technology, and separation from the mainstream society.

A traditional agricultural religious group, the Old World Amish maintains isolation from the rest of the community. Financially well-off, they are homogeneous on education, occupation by gender, age at marriage, religion/ethnicity, and health care.

Although the Amish strongly discourage marriage between close cousins, the Lancaster Amish genealogy is described as mutational - inbreeding from multiple, remote connections rather than close consanguinity (first-cousin marriages).

Amish settlements have been identified with certain …