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

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 …

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 …

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 …

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 …

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 …

Anticipation, Accompaniment, And A Good Death In Perinatal Care., Bryanna S. Moore, Brian S. Carter, Bryan Beaven, Katie House, Joel House

Manuscripts, Articles, Book Chapters and Other Papers

The ethics of perinatal care, and the experiences of families who receive such care, remains a nascent area of inquiry. It can be hard to see how existing "good death" constructs apply to the experiences of fetal patients and their families. In this paper, we explore two themes raised by a case at our fetal health center: anticipation and accompaniment. In this case, a mother presented to our fetal health center; her unborn son, our fetal patient, was diagnosed with life-threatening hypoplastic left heart syndrome and endocardial fibroelastosis. The parents were told that their son's life expectancy, upon birth, was …

Altered Central Hemodynamics In Individuals With Down Syndrome, Thessa Irena Maria Hilgenkamp, Elizabeth Cornellia Schroeder, Sang Ouk Wee, Georgios Grigoriadis, Alexander Jacob Rosenberg, Tracy Baynard, Bo Fernhall

Physical Therapy Faculty Research

Background: Individuals with Down Syndrome (DS) have autonomic dysfunction impacting regulation of heart rate, Blood Pressure (BP), and peripheral vasoconstriction. This may alter central hemodynamics through different wave reflections. We investigated central hemodynamics including wave reflection during rest and a sympathoexcitatory stimulus [Lower Body Negative Pressure (LBNP)] in individuals with DS and controls. Methods: Radial applanation tonometry was performed on participants with and without DS before and during 5-min LBNP stimulus of −20 mmHg. Waveforms were calibrated to mean and diastolic BP. Generalized transfer function was used to estimate aortic pressures [Systolic Blood Pressure (aSBP), Diastolic Blood Pressure (aDBP), mean …

Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp

Patient Experience Journal

As the mother of a 28-year-old son with cerebral palsy and hydrocephalus, and as a healthcare consultant focused on patient experience and professional development, I have a unique perspective and skill set. Recently he experienced symptoms that included an excruciating headache, neck pain and lethargy. Fearing his ventriculoperitoneal shunt had malfunctioned, he went to the emergency room and was later admitted on the neuro inpatient floor for a three-day hospitalization. His original shunt had been placed in 1991, and he never had an issue with until August 2018. While in the hospital, he was informed that he was no longer …

Pharmacometabolomics Of Respiratory Phenotypic Response To Dexamethasone In Preterm Infants At Risk For Bronchopulmonary Dysplasia., Tamorah R. Lewis Md Phd, Prabhakar Chalise, Cheri Gauldin, William E. Truog

Manuscripts, Articles, Book Chapters and Other Papers

A prospective cohort study was performed in preterm infants less than 32 weeks gestation at birth who were treated with dexamethasone for developing or established bronchopulmonary dysplasia (BPD). Respiratory phenotype (Respiratory Severity Score (RSS)), serum, and urine metabolomics were assessed before and after treatment. Ten infants provided nine matched serum and nine matched urine samples. There was a significant decrease in RSS with steroid treatment. Serum gluconic acid had the largest median fold change (140 times decreased, P = 0.008). In metabolite set enrichment analysis, in both serum and urine, the urea cycle, ammonia recycling, and malate-aspartate shuttle pathways were …

Kangaroo Mother Care: Opportunities And Implications For Rural Pakistan, Hasan Nawaz Tahir, Zafar Fatmi

Community Health Sciences

Neonatal mortality comprises 40% of total under-5 mortality, globally. Kangaroo mother care (KMC) is one of the most cost-effective interventions to reduce neonatal mortality. KMC does not require highend equipment, intensive care facilities or technical knowledge. A recent meta-analysis reported that KMC may reduce neonatal mortality in preterm and low birth weight neonates up to 36%. A review of enablers and barriers of KMC suggests that KMC can be integrated in maternal health care system by giving awareness, involving family and giving ownership of the intervention to the community. If supported with minimal incentives it would reduce the cost of …

Not Just A Cyst: A Rare Presentation Of Luq Pain, Richard Henriquez, Isin Y. Comba Md, Sundeep Kumar Md, Khawaja Arsalan Bashir, Maria Wallis-Crespo Md, Lakhinder Bhatia Md

Gastroenterology

Lymphangioma is a benign congenital malformation of the lymphatic system that is relatively common in juvenile population. Rarely, it can be seen in adults and majority of the cases are reported in the head and neck region (70-75%). Typically, these malformations are asymptomatic. In this report, we present a rare case of splenic lymphangioma presenting with severe, intractable abdominal pain.

Social Isolation Among Families Caring For Children With Disabilities, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

In this issue introduction, the editor-in-chief of Journal of Patient-Centered Research and Reviews comments on the social isolation experienced by families that include children with significant disabilities.

Treatment Patterns And Economic Burden Of Sickle-Cell Disease Patients Prescribed Hydroxyurea: A Retrospective Claims-Based Study, Nirmish Shah, Menaka Bhor, Lin Xie, Rashid Halloway, Steve Arcona, Jincy Paulose, Huseyin Yuce

Publications and Research

Background: This study aimed to evaluate sickle-cell disease (SCD) treatment patterns and economic burden among patients prescribed hydroxyurea (HU) in the US, through claims data.

Methods: SCD patients with pharmacy claims for HU were selected from the Medicaid Analytic Extracts (MAX) from January 1, 2009 - December 31, 2013. The first HU prescription during the identification period was defined as the index date and patients were required to have had continuous medical and pharmacy benefits for ≥6 months baseline and 12 months follow-up periods. Patient demographics, clinical characteristics, treatment patterns, health care utilization, and costs were examined, and variables were …

Neonatal Abstinence Syndrome: A Targeted Review For Pharmacists, Andrew Skouby, Gabi Gegenheimer, Kelsey Lindsley, Sarah Kradel, Michael Rush

Pharmacy and Wellness Review

Neonatal abstinence syndrome (NAS) is a disease that impacts drug-exposed infants and describes an array of issues that arise in newborns just hours after birth. Patient presentation and disease symptomatology vary widely based upon the specific substance utilized by the mother while pregnant and duration of exposure. Treatment is dependent on which symptoms are present and, assuming an opioid-derived abstinence syndrome, is based primarily on opioid supplementation to prevent symptoms of withdrawal. Treatment of non-opioid derived abstinence syndrome is often slightly more complex and involves the use of different agents depending on the drug of exposure. Due to the intricate …

Safe To Sleep In The Icn, Megan Kelly, Alexandra (Lexi) Van Noy, Molly Kruse, Megan English, Hannah Culbertson, Brianne Truitt, Ziryan Salihparkhy, Jenny Mckee, Brecklyn Findley

Posters

The CDC states that 1,545 infants passed away from SIDS in 2014. Safe sleep includes supine, in a crib, head of bed flat, firm sleep surface, tightly fitted sheet, no loose blankets, no toys or supplies in crib with infant. It is important for nurses to model safe sleep practices in the hospital setting. Current compliance with safe sleep in the Intensive Care Nursery is 50%.

AIM Statement:

By August 1, 2019 we want to increase the compliance of modeling safe sleep behaviors for patients who qualify for safe sleep from 50% to 90% in the Intensive Care Nursery.

Improving Care Of The Small Baby, Beckie Palmer, Abdebayo Oshodi, Brandy Huitt, Kaylee Hurt, Pamela Kliethermes, Trudy Koons, Patricia Lanzer, Ashley Mirabile, Allyson Owen, Christian Anthony Schneider, Betsi Anderson, Steven Olsen

Posters

Hierarchy of Aims:

• Global Aim: Create a Small Baby Unit for infants admitted to our NICU that arebirth, in which 90% of our patients are admitted to F pod on day of admission, by March 2019
• Interim Aim: Staff 80% of our micropremie patients with a Small Baby Team nurse from admission until >32 weeks by May 2019.
• Sub Aim: Increase rates of developmentally appropriate care (2 person cares, kangaroo care compliance) by 50% by August 2019.

Safe Sleep In The Nicu, Ashley Mirabile, Barb Haney, Dianne Wilderson, Beckie Palmer, Ashley Domsch, Eugenia K. Pallotto

Posters

Goal: To evaluate a staff education program on approach to improve in the rate of eligible NICU infants in safe sleep in a busy 84-bed level IV NICU.

Outcome Measures; Improve safe sleep compliance for eligible patients to 90% or greater by December 2019.

Process Measures: Audits from bedside RNs showing compliance with safe sleep.

Planned Intervention: In December of 2018 a multidisciplinary work group brainstormed and implemented best practice safe sleep education for staff and parents. September 2019 a Safe Sleep Educational Toolkit was made available for staff.

Results: Safe Sleep compliance has gone from 53% to 90% in …

Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

METHODS: Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to …