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

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

MSU Graduate Theses

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. …

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 …

Effects Of Increased Sulfatide In Schwann And Mesenchymal Stromal Cells In Metachromatic Leukodystrophy, Srinitya Gannavarapu

Electronic Thesis and Dissertation Repository

Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by deficient arylsulfatase A (ARSA) activity, resulting in intra-lysosomal accumulation of sulfatide. Sulfatide is integral for proper maintenance of myelin in the central and peripheral nervous systems. This study characterized mitochondrial morphology, cytokine secretion and phagocytic activity in Schwann and mesenchymal cells isolated from ARSA^-/- mice. Cells were treated with different, increasing concentrations of sulfatide for a period of 24 hours. ARSA^-/- cells presented with persistent, increased fragmented mitochondrial structures suggestive of prolonged mitochondrial fission. Sulfatide treatments increased secretion of pro-inflammatory cytokines TNF-α and IL-1β in ARSA^{-/- …}

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 …

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

Cardiology

No abstract provided.

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

Infectious Disease

No abstract provided.

Obesity In America, Caroline Mcgibbon

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

No abstract provided.

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 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 …

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 …

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 …

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 …

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 …

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 …

Morgagni Hernia, Wendy Jo Svetanoff, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

A Morgagni hernia is one of four types of diaphragmatic hernias; the other types include a Bochdalek hernia, where the defect is posterolateral, a hiatal hernia, where the defect is at the esophageal hiatus, and a paraesophageal hernia, where the defect is located adjacent to the esophageal hiatus. The Morgagni hernia, in which the defect is found in an anterior and retrosternal location, was first described by Morgagni in 1769. It is rarer than the other type of congenital diaphragmatic hernia (Bochdalek hernia) and comprises only 2% to 5% of all congenital diaphragmatic hernias. Morgagni hernias tend to be less …

Gastroschisis, Rebecca M. Rentea, Vikas Gupta

Manuscripts, Articles, Book Chapters and Other Papers

Gastroschisis is a paraumbilical, full-thickness abdominal wall defect associated with protrusion of the bowel through the defect. It is rarely associated with genetic conditions. A membrane does not cover the bowel exposed in utero and, as a result, may be matted, dilated, and covered with a fibrinous inflammatory rind. Infants have a high proportion of intrauterine growth restriction. Diagnosis is often made on the 20-week ultrasound with free-floating bowel loops in the uterine cavity. Maternal serum alpha-fetoprotein (AFP) is elevated in pregnancies with gastroschisis. Compared with other abdominal wall defects diagnosed prenatally such as omphalocele, only 10 percent of cases …

Patent Urachus, Kayla B. Briggs, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

atent urachus refers to one condition in a rare spectrum of disorders referred to as urachal anomalies. These conditions result from the failure of the involution of normal embryologic tissues that serve to empty the fetal bladder. The location and amount of persistent tissue dictate the presenting symptoms. Some of these urachal anomalies are obvious at birth, while others are more subtle and not diagnosed until adulthood or only incidentally discovered after imaging is obtained for other reasons. Historically, surgical resection of urachal anomalies was routinely undertaken, given the potential for malignancy in retained ectopic tissue. Early surgical resection has …

Effects Of Gestational Ozone Exposure On Privileged Placental And Brain Barrier Integrity, Alexander I. Hamm

Theses and Dissertations

Ambient outdoor ozone, a common of component of photochemical smog and urban air pollution, is linked to various neurological and vascular pathologies. Its immediate reaction with lung surfactant after inhalation results in complete reactivity of the gas, with no active ozone passing into circulation. This indicates the presence of secondary and tertiary mediators in ozone-related systemic pathologies after pulmonary insult. In vasculature, ozone exposure is associated with an acute hypertensive phenotype apparent at least 24 hours after dose, such as experienced on a hot summer afternoon in a large metropolitan area like Los Angeles or Mexico City. However, the effects …

Ileal Atresia, Obiyo O. Osuchukwu, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Ileal and jejunal atresias are usually described together as jejunoileal atresia (JIA). JIA is a common cause of intestinal obstruction in neonates. It is seen in 1 in 5000 to 1 in 14000 live births. Intestinal atresia can occur in any location on the small bowel as a solitary or even multiple lesions. Distally located atresia usually presents with delayed symptoms compared to proximal ones. Occasionally, JIA is associated with other malformations such as cardiac anomalies, gastroschisis, and cystic fibrosis. Evaluation can be initiated before birth with prenatal diagnosis using ultrasound findings of evidence of intestinal obstruction reported in 29% …

Pentalogy Of Cantrell, Muhammad Khawar Sana, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Pentalogy of Cantrell (POC) is a collection of five congenital midline birth anomalies that present a distinctive challenge for clinicians and surgeons. Those five defects are of the heart, pericardium, diaphragm, sternum, and abdominal wall. This condition has been divided into two categories, complete or partial. Complete, as the name indicates, refers to the presence of all five defects, while others may present with only partial defects. It is also referred to as thoracoabdominal ectopia cordis, a condition where the heart is covered by an omphalocele-like membrane. Ectopia cordis (EC) is often found in fetuses with POC. Infants usually have …