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

Knowledge Base Of Adolescents With Congenital Heart Disease, Pamela Finn, Mark Gelatt, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt

Posters

Introduction:

Most congenital heart disease [CHD] is diagnosed and treated in early childhood in designated children’s hospitals with parents responsible for decision-making and receipt of information. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.

Methods:

Established patients with CHD, >11 y.o. and their parents, were independently surveyed in the outpatient clinic prior to being seen over a one-year period. Participation was voluntary. Cardiomyopathy, transplant and electrophysiology patients were excluded. Scores were assessed as full, partial or incomplete.

Results:

Most (98% …

The Effect Of Breastfeeding And Rooming-In Care On Neonatal Abstinence Syndrome, Rachel Boyer, Lindsay Gal, Mahaylie Cline

Williams Honors College, Honors Research Projects

Concurrent with a rise in opioid abuse during pregnancy is an increase in the number of babies born with Neonatal Abstinence Syndrome (NAS). Despite this crisis, no single treatment has been identified for NAS. This paper sought to analyze and synthesize research evaluating the effectiveness of breastfeeding and rooming-in care on the need and length of pharmacologic treatment and length of hospital stay for neonates with NAS. Twenty-six peer reviewed research articles published between 2006 and 2017 were selected from PubMed and CINAHL for analysis. The studies focused on neonates with NAS born to mothers addicted to opioids or undergoing …

Improving Pneumococcal Polysaccharide Vaccination In Children With Cystic Fibrosis, Adam Van Mason, Wendy Estrellado-Cruz, Kristi Williams, Ellen Meier, Elizabeth Elson, Stephanie Duehlmeyer, Paula Capel, Jessica Banks, Christopher M. Oermann

Posters

No abstract provided.

Medication Timeliness In Emergency Department In Pediatric Sickle Cell Disease Population Presenting With Vaso-Occlusive Episode, Derrick Goubeaux, Kaitlyn Hoch, Gerald Woods, Julie Routhieaux, Maureen Guignon, Valerie Mcdougall Kestner

Posters

No abstract provided.

Arl2bp, A Novel Ciliopathy Protein, Is Required For Cilia Microtubule Formation, Abigail Ruth Moye

Graduate Theses, Dissertations, and Problem Reports (ETD)

Cilia are specialized organelles essential for cellular function. Not surprisingly, mutations in cilia- related genes are linked to multi-syndromic diseases termed ciliopathies. These include blinding diseases such as retinitis pigmentosa (RP). One such novel gene is ARL2BP (ARL2-binding protein) and is linked to RP and situs inversus (organ reversal) in humans, a phenotype produced by defects in the nodal cilia of developing embryos. Defects in photoreceptor cilia, as well as situs inversus in human patients, suggest that ARL2BP plays an invaluable role in the structure and function of cilia. However little is known about the role for this protein in …

Possible Breakdown Of Dopamine Receptor Synergism In A Mouse Model Of Huntington's Disease, Samantha F. Kennedy

LSU New Orleans Theses and Dissertations

The model of basal ganglia function proposed by Albin, Young and Penney (1989) describes two anatomically independent motor pathways, the direct and indirect. However, under normal conditions striatal dopamine (DA) is required for the expression of motor behavior, and DAergic control of the two pathways (via D1 and D2 receptors, respectively) is dependent on co-activation. We tested for a possible breakdown of D1/D2 synergism using transgenic R6/1 mice bearing the human huntingtin allele (Htt). Motor stereotypy, observed prior to the onset of HD-related symptoms, was rated on a 5-point scale following activation of: A) D1 receptors alone, B) D2 receptors …

Prenatal Opioid Exposure And Intermittent Hypoxemia In Preterm Infants: A Retrospective Assessment, Elie G. Abu Jawdeh, Philip M. Westgate, Amrita Pant, Audra L. Stacy, Divya Mamilla, Aayush Gabrani, Abhijit R. Patwardhan, Henrietta S. Bada, Peter J. Giannone

Pediatrics Faculty Publications

Introduction: Intermittent hypoxemia (IH) is defined as episodic drops in oxygen saturation (SpO₂). Preterm infants are at increased risk for IH due to their immature respiratory control/apnea of prematurity. The clinical relevance of IH is a relatively new observation with rising evidence linking IH to neonatal morbidities and long-term impairment. Hence, assessing factors that influence IH in preterm infants is imperative. Given the epidemic of opioid misuse in the USA, there is an urgent need to understand the impact of prenatal opioid exposure on neonatal outcomes. Hence, we wanted to assess the relationship between isolated prenatal opioid exposure …

Successful Reversal Of Furosemide-Induced Secondary Hyperparathyroidism With Cinacalcet., Tarak Srivastava, Shahryar Jafri, William E. Truog, Judith Sebestyen Vansickle, Winston M. Manimtim, Uri S. Alon

Manuscripts, Articles, Book Chapters and Other Papers

Secondary hyperparathyroidism (SHPT) is a rare complication of furosemide therapy that can occur in patients treated with the loop diuretic for a long period of time. We report a 6-month-old 28-weeks premature infant treated chronically with furosemide for his bronchopulmonary dysplasia, who developed hypocalcemia and severe SHPT, adversely affecting his bones. Discontinuation of the loop diuretic and the addition of supplemental calcium and calcitriol only partially reversed the SHPT, bringing serum parathyroid hormone level down from 553 to 238 pg/mL. After introduction of the calcimimetic Cinacalcet, we observed a sustained normalization of parathyroid hormone concentration at 27 to 63 pg/mL …

Plasma Brain-Derived Neurotrophic Factor Levels In Newborn Infants With Neonatal Abstinence Syndrome, Lochan Subedi, Hong Huang, Amrita Pant, Philip M. Westgate, Henrietta S. Bada, John A. Bauer, Peter J. Giannone, Thitinart Sithisarn

Pediatrics Faculty Publications

Background: Brain-derived neurotrophic factor (BDNF) is a type of growth factor that promotes growth and survival of neurons. Fetal exposure to opiates can lead to postnatal withdrawal syndrome, which is referred as neonatal abstinence syndrome (NAS). Preclinical and clinical studies have shown an association between opiates exposure and alteration in BDNF expression in the brain and serum levels in adult. However, to date, there are no data available on the effects of opiate exposure on BDNF levels in infant who are exposed to opiates in utero and whether BDNF level may correlate with the severity of NAS.

Objective: To compare …

Cost-Effectiveness Analysis Of Neonatal Screening Of Critical Congenital Heart Defects In China., Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori

Pediatrics Faculty Publications

Background: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the costeffectiveness of CCHD screening in China.

Methods and Findings: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as …

Increased Birth Weight Is Associated With Altered Gene Expression In Neonatal Foreskin, Leryn J. Reynolds, Rebecca I. Pollack, Richard J. Charnigo, Cetewayo S. Rashid, Arnold J. Stromberg, Shu Shen, John O'Brien, Kevin J. Pearson

Pharmacology and Nutritional Sciences Faculty Publications

Elevated birth weight is linked to glucose intolerance and obesity health-related complications later in life. No studies have examined if infant birth weight is associated with gene expression markers of obesity and inflammation in a tissue that comes directly from the infant following birth. We evaluated the association between birth weight and gene expression on fetal programming of obesity. Foreskin samples were collected following circumcision, and gene expression analyzed comparing the 15% greatest birth weight infants (n = 7) v. the remainder of the cohort (n = 40). Multivariate linear regression models were fit to relate expression levels on differentially …

The World Database For Pediatric And Congenital Heart Surgery: The Dawn Of A New Era Of Global Communication And Quality Improvement In Congenital Heart Disease., James D St Louis, Hiromi Kurosawa, Richard A Jonas, Nestor Sandoval, Jorge Cervantes, Christo I Tchervenkov, Jeffery P Jacobs, Kisaburo Sakamoto, Giovanni Stellin, James K Kirklin

Surgery Faculty Publications

No abstract provided.

The Effects Of Perinatal Oxycodone Exposure On Behavioral Outcome In A Rodent Model, Thitinart Sithisarn, Sandra J. Legan, Philip M. Westgate, Melinda E. Wilson, Kristen Wellmann, Henrietta S. Bada, Susan Barron

Pediatrics Faculty Publications

Opiate addiction is now a major public health problem. Perinatal insults and exposure to opiates such as morphine in utero are well known to affect development of the hypothalamic–pituitary–adrenal axis of the offspring adversely and are associated with a higher risk of developing neurobehavioral problems. Oxycodone is now one of the most frequently abused pain killers during pregnancy; however, limited data are available regarding whether and how perinatal oxycodone exposure (POE) alters neurobehavioral outcomes of the offspring. We demonstrated that exposure to 0.5 mg/kg/day oxycodone in utero was associated with hyperactivity in adult rats in an open field. No significant …

Sustained Immune Tolerance Induction In Enzyme Replacement Therapy-Treated Crim-Negative Patients With Infantile Pompe Disease, Zoheb Kazi, Ankit Desai, K Berrier, R Troxler, R Wang, O Abdul-Rahman, P Tanpaiboon, N Mendelsohn, E Herskovitz, David Kronn, M Inbar-Feigenberg, C Ward-Melver, M Polan, P Gupta, A Rosenberg, P Kishnani

NYMC Faculty Publications

BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood of success, and long-term efficacy of ITI in a larger cohort remain unknown. METHODS: Clinical data were analyzed for 19 CRIM-negative IPD patients who received ITI with rituximab, methotrexate, and IVIG in the ERT-naive setting (ERT+ITI) and compared to a historical cohort of 10 CRIM-negative IPD patients on ERT monotherapy. RESULTS: ITI was …

Effect Of Provision Of Home-Based Curative Health Services By Public Sector Health-Care Providers On Neonatal Survival: A Community-Based Cluster-Randomised Trial In Rural Pakistan, Sajid Bashir Soofi, Simon Cousens, Ali Turab, Yaqub Wasan, Shah Mohammed, Shabina Arif, Zaid Ahmad Bhatti, Imran Ahmed, Steve Wall, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background : Although the effectiveness of community mobilisation and promotive care delivered by community health workers in reducing perinatal and neonatal mortality is well established, evidence in support of home-based neonatal resuscitation and infection management is mixed. We assessed the effectiveness of adding training in neonatal bag and mask resuscitation and oral antibiotic therapy for suspected neonatal infections to a basic preventive and promotive interventions package delivered by public sector community-based lady health workers (LHWs) in rural Pakistan.

Methods: We did a cluster-randomised controlled trial in two subdistricts of Naushahro Feroze in rural Sindh, Pakistan, between April 15, 2009, …

Risk Of Respiratory Syncytial Virus Hospitalization In The First And Second Years Of Life In Pediatric Patients With Congenital Heart Disease, Deborah Friedman, Pierre Wong

NYMC Faculty Publications

No abstract provided.

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of the …

Re-Tubularization Of Highly-Ischemic Anti-Mesenteric Border (Rehab): A Novel Bowel Preservation Technique In Complex Gastroschisis., Richard J. Hendrickson, Ashwini S. Poola, Katherine W. Gonzalez, Joel Lim, Tolulope A. Oyetunji

Manuscripts, Articles, Book Chapters and Other Papers

Complex gastroschisis with bowel necrosis poses an operative challenge. Surgeons must weigh the decision between resection versus preservation of ischemic bowel. As one of the leading causes of short bowel syndrome, aggressive resection in complicated gastroschisis subjects children to prolonged dependence on parenteral nutrition and its attendant complications. Herein, we describe a novel technique aimed towards bowel preservation in complex gastroschisis patients with severe bowel ischemia with the ultimate goal for enteral autonomy.

Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn

Posters

Introduction:

Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.

Methods:

Established CHD patients, >11 y.o. and their parents, were independently surveyed in the outpatient clinic. Participation was voluntary. Cardiomyopathy, electrophysiology and transplant patients were excluded. Scores were assessed as full, partial or incomplete.

Results:

Most (98% parents; 83% adolescents) reported that their cardiologist had provided education. Adolescents provided a full (49%) and partial …

Brain Injury With Systemic Inflammation In Newborns With Congenital Heart Disease Undergoing Heart Surgery, R Pironkova, Joseph Giamelli, H Seiden, V Parnell, D Gruber, C Sison, K Ojamaa

NYMC Faculty Publications

The potential role of systemic inflammation on brain injury in newborns with congenital heart disease (CHD) was assessed by measuring levels of central nervous system (CNS)-derived proteins in serum prior to and following cardiac surgery. A total of 23 newborns (gestational age, 39±1 weeks) with a diagnosis of CHD that required cardiac surgery with cardiopulmonary bypass (CPB) were enrolled in the current study. Serum samples were collected immediately prior to surgery and 2, 24 and 48 h following CPB, and serum levels of phosphorylated neurofilament-heavy subunit (pNF-H), neuron-specific enolase (NSE) and S100B were analyzed. Systemic inflammation was assessed by measuring …