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

Complications And Management In Pediatric Heart Surgery, Hannah Berndt

The Eleanor Mann School of Nursing Undergraduate Honors Theses

The purpose of this literature review is to evaluate current research surrounding management of pediatric patients after cardiac surgery. Acute kidney injury (AKI) and neurodevelopmental deficits are the main discussion topics. This review analyzes the causes, risk factors, and effects of AKI. The diagnostic and management methods surrounding AKI are compared, and diagnostic approaches such as serum Cystatin C and fibroblast growth factor 23 are analyzed as potential future replacements to serum creatinine. The modality of renal replacement therapy is evaluated, and early initiation of peritoneal dialysis is preferred. This review discusses the most common causes, effects, and management of …

A Replication And Extension Of A Prediction Tool Identifying Need For Treatment Among Opioid Exposed Infants, Loni Parrish

Electronic Theses and Dissertations

The incidences of maternal opioid use and neonatal opioid withdrawal syndrome (NOWS) have increased by nearly 400% over the past decade. Isemann and colleagues (2017) developed prediction tools (TiTE/TiTE²) to differentiate, within the first two days of life, between infants who will require pharmacotherapy for NOWS from those infants who will not require pharmacotherapy for NOWS. The goal of the current experiment was to replicate and extend their prediction model. The present experiments successfully replicated Isemann et al., (2017) results and also established alternative cutoff values for requiring treatment that provide better balance between all four metrics. Moreover, …

Elucidating The Developmental Defects In Zebrafish Associated With The Cardiac Drug Verapamil, Blake Stephan Justis

Graduate Theses/Dissertations

Birth defects are abnormalities in a developing organism that lead to a malformation in structure or function. Over half of birth defects have no determined cause; however, known causes occur by genetic anomalies, exposure to environmental agents (a.k.a. teratogens), or multifactorial reasons. To explain the unknown causes of birth defects, an area of focus in this study is to identify potential teratogens. Identifying these teratogens, is key to preventing future birth defects. An obvious source of teratogens in pregnant women would be that of pharmaceuticals. Thus, a main goal of this study is to identify drugs that cause birth defects. …

Factors That Impact Uptake Of Carrier Screening By Male Reproductive Partners Of Female Prenatal Patients, Wendi Betting

Dissertations and Theses (Open Access)

Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studieshave examined reasons why women elect or decline carrier screening, but there have been few published studies that examine factors that influence a male partner’s decision to elect or decline carrier screening, particularly when the female has been identified as a carrier. The aim of the study was to determine the factors that influence the uptake of …

Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Some chronic diseases — such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the Journal of Patient-Centered Research and Reviews — are diagnosed in childhood but become more symptomatic in adulthood. In this editorial, the challenges, pitfalls, and opportunities regarding the care of adults with childhood-onset chronic diseases are examined using Down syndrome, cystic fibrosis, congenital heart disease, and Hirschsprung disease as examples.

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 …

The Role Of Alternative Mrna Splicing In Heart Development, Douglas Bittel, Nataliya Kibiryeva, Naoya Kenmochi, Prakash Patil, Tamayo Uechi, Brenda Rongish, Mike Filla, Jennifer A. Marshall, Michael Artman, Rajasingh Johnson, James E. O'Brien

Manuscripts, Articles, Book Chapters and Other Papers

Research in the last 10 years has led to improved understanding of the genetic regulation of vertebrate heart development, but despite this effort, approximately 70% of all congenital heart defects (CHDs) still have an unknown etiology. Alternative splicing of mRNA has been documented to play roles in normal and abnormal development. Dysregulated splicing of mRNA has been shown to cause heart defects in mice, however a link between mRNA splicing and CHDs has not yet been shown in humans. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of …

A Novel Case Of Bacterial Meningitis In A Patient With Loeys-Dietz, Lacey D. Colvin Do, Christy Fagg

Infectious Disease

No abstract provided.

Diagonal 1 And Mid-Lad Myocardial Bridge With Elevated Troponin Enzymes, Ronak Patel Do

Cardiology

No abstract provided.

Obesity In America, Caroline Mcgibbon

English Department: Research for Change - Wicked Problems in Our World

No abstract provided.

Rationale And Design Of The Steroids To Reduce Systemic Inflammation After Infant Heart Surgery (Stress) Trial, Kevin D Hill, H Scott Baldwin, David P Bichel, Ryan J Butts, Reid C Chamberlain, Alicia M Ellis, Eric M Graham, Jesse Hickerson, Christoph P Hornik, Jeffrey P Jacobs, Marshall L Jacobs, Robert Db Jaquiss, Prince J Kannankeril, Sean M O'Brien, Rachel Torok, Joseph W Turek, Jennifer S Li, Stress Network Investigators

Faculty, Staff and Students Publications

For decades, physicians have administered corticosteroids in the perioperative period to infants undergoing heart surgery with cardiopulmonary bypass (CPB) to reduce the postoperative systemic inflammatory response to CPB. Some question this practice because steroid efficacy has not been conclusively demonstrated and because some studies indicate that steroids could have harmful effects. STRESS is a randomized, placebo-controlled, double-blind, multicenter trial designed to evaluate safety and efficacy of perioperative steroids in infants (age < 1 year) undergoing heart surgery with CPB. Participants (planned enrollment = 1,200) are randomized 1:1 to methylprednisolone (30 mg/kg) administered into the CPB pump prime versus placebo. The trial is nested within the existing infrastructure of the Society of Thoracic Surgeons Congenital Heart Surgery Database. The primary outcome is a global rank score of mortality, major morbidities, and hospital length of stay with components ranked commensurate with their clinical severity. Secondary outcomes include several measures of major postoperative morbidity, postoperative hospital length of stay, and steroid-related safety outcomes including prevalence of hyperglycemia and postoperative infectious complications. STRESS will be one of the largest trials ever conducted in children with heart disease and will answer a decades-old question related to safety and efficacy of perioperative steroids in infants undergoing heart surgery with CPB. The pragmatic "trial within a registry" design may provide a mechanism for conducting low-cost, high-efficiency trials in a heretofore-understudied patient population.

A Five Chambered Heart, George Hanna, Javad Savoj, Syed Iftikhar, Scott Kubomoto, Patrick Hu

Internal Medicine

No abstract provided.

Prevalence Of Sensorineural Hearing Loss In Children With Palliated Or Repaired Congenital Heart Disease., Lalitha Gopineti, Mane Paulpillai, Andrea Rosenquist, Andrew H. Van Bergen

Manuscripts, Articles, Book Chapters and Other Papers

Background Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental deficits, and the presence of sensorineural hearing loss (SNHL) may further lead to poor language skills acquisition and speech delays. Prevalence of SNHL in the general pediatric population is estimated to be 0.2% at birth to 0.35% during adolescence. Very few studies have attempted to estimate SNHL prevalence in children who have undergone congenital heart surgery. Methods This retrospective study aimed to estimate SNHL prevalence in children who underwent congenital heart surgery in our institution and were followed up in our high-risk pediatric cardiology clinics for four …

Prophylaxis Of Food Allergen Sensitivity, Dustin Gottfeld

Physician Assistant Studies | Student Authored Articles

Food allergies can have a severe and drastic effect on a person’s lifestyle, while prevention of allergic disease can help to ensure others do not have to live with this burden. There are a variety of differing hypotheses that offer explanations for the early development of food allergies, particularly peanut allergies. Two of the foremost hypotheses are the Hygiene Hypothesis and the Dual-Allergen Hypothesis. The Hygiene Hypothesis claims that the diversity of a child’s microbiota creates a beneficial balance of microorganisms which can help prevent the development of allergic disease. Alternatively, the Dual-Allergen Hypothesis states that early environmental exposure to …

Living With Pku: The Lived Experience Of Irish Adults With Early Diagnosed Phenylketonuria On Long Term Dietary Therapy, Mary-Ellen O'Shea

Theses

Phenylketonuria (PKU) is a rare genetic condition affecting the body’s ability to metabolise the amino acid phenylalanine (PHE). A build-up of PHE in the blood and brain can result in irreversible intellectual disability and developmental delays. Ireland has one of the highest prevalence rates of PKU in Europe and some of the earliest treated patients with PKU in the world. However, little is known about their lived experience with PKU. Furthermore, cost-benefit analysis of treatments for rare diseases in Ireland is principally based on quantitative data. More qualitative data is needed to highlight the quality of life experienced by people …

Involvement Of The Renin Angiotensin System In Marfan Syndrome Associated Thoracic Aortic Aneurysms, Jeff Zheying Chen

Theses and Dissertations--Physiology

Thoracic aortic aneurysms (TAAs) are clinically-silent dilations of the aorta which greatly increase the risk of aortic rupture, a condition with 50-90% mortality. Marfan syndrome (MFS) is caused by mutations in fibrillin-1 (FBN1) and is associated with TAAs. Due to an absence of validated and effective pharmacologic therapies to prevent or reverse TAA, most MFS patients require surgical aortic repair. Understanding MFS associated TAA pathogenesis would direct development of new pharmacologic therapies. Previous research has implicated the renin angiotensin system in TAA. In both males and females, angiotensinogen (AGT) is cleaved serially to generate the main effector peptide angiotensin II …

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 …

Hypomorphic Si Genetic Variants Are Associated With Childhood Chronic Loose Stools., Bruno P Chumpitazi, Jeffery Lewis, Derick Cooper, Mauro D'Amato, Joel Lim, Sandeep Gupta, Adrian Miranda, Natalie Terry, Devendra Mehta, Ann Scheimann, Molly O'Gorman, Neelesh Tipnis, Yinka Davies, Joel Friedlander, Heather Smith, Jaya Punati, Julie Khlevner, Mala Setty, Carlo Di Lorenzo

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.

METHODS: A prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI …

The Functional Importance Of Methyl Cpg Binding Domain Proteins 2 And 3 In Regulating Fetal Hemoglobin Expression In Human Adult Erythroid Cells, Alexander Azzo

Theses and Dissertations

Humans undergo two developmental switches in the predominantly expressed β-like globin chain during embryogenesis and fetal development. The first switch from embryonic (ε) to fetal (γ) occurs around week 5 of embryonic development, while the second switch from fetal to adult (β) globin occurs shortly after birth. By adulthood, fetal hemoglobin represents only 1-2% of total hemoglobin in the blood. As sufficiently elevated levels of fetal hemoglobin are beneficial for improving clinical outcomes in sickle cell disease and β-thalassemia, the mechanisms that enforce silencing of fetal hemoglobin expression postnatally are of great clinical significance. The methyl-CpG binding domain protein MBD2 …

Don't Just Check The Box: Check Your Athlete's Heart: Adding A 12-Lead Ecg To Pre-Participation Screening To Identify High Risk Of Sudden Cardiac Arrest In Male High School Athletes, Shannon King

DNP Projects

PURPOSE: Sudden cardiac arrest (SCA) continues to be the leading cause of death in male high school athletes participating in competitive sports. There is gap in the current preventative screening practice of history and physical alone. The purpose of this project is to evaluate adding a 12-lead electrocardiogram (ECG) to pre-participation screening captures cardiac abnormalities that identify male athletes at a higher risk for developing SCA. METHODS: A descriptive secondary analysis design to determine the incidence of cardiac abnormalities detected with the addition of a 12-lead ECG during pre-participation screenings (annual sports physical) of high school-aged male athletes. The study …