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

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 …

Outcomes Of Allogeneic Hematopoietic Stem Cell Transplantation For Gata2 And Dock8 Immunodeficiencies: Demographics And Transplantation Variables, Kristen M. Cole, Dnp, Msn, Rn, Bmtcn, Ocn

Doctor of Nursing Practice Projects

Background/Purpose: GATA2 and Dedicator-of-Cytokinesis-8 (DOCK8) deficiencies are two recently described genetic immunodeficiency diseases for which allogeneic hematopoietic stem cell transplant (HSCT) represents the only definitive therapy. The patient characteristics and HSCT variables that relate to the outcomes in these two diseases following HSCT remain unclear. Therefore, we described these variables in these two patient populations and explored their relationships with HSCT outcomes.

Methods: Data were obtained from retrospective chart reviews of all patients with GATA2 deficiency and DOCK8 deficiency who underwent HSCT on clinical research protocols at the National Cancer Institute. The outcomes included overall and disease-free survival status, graftversus-host …

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

Acute Bilirubin Encephalopathy And Its Progression To Kernicterus: Current Perspectives, Fatima Usman, Udochukwu Michael Diala, Steven Shapiro, Jean-Baptist Lepichon, Tina M. Slusher

Manuscripts, Articles, Book Chapters and Other Papers

Acute bilirubin encephalopathy (ABE) remains a significant cause of morbidity and mortality throughout the world, especially in low-middle-income countries where it can account for up to 15% of neonatal death. The pathophysiology of this acute life-threatening event of infancy and its potential evolution to kernicterus remain poorly understood. In this review, we start by reviewing the terminology of hyperbilirubinemia and its clinical consequences, ABE and later kernicterus spectrum disorder (KSD). We then review the pathogenesis of ABE and discuss clinical factors that can contribute to its pathogenicity. We examine in detail the clinical correlates of ABE and KSD. We present …

Factors Associated With End-Of-Life Planning In Huntington Disease., Nancy R Downing, Siera Goodnight, Sena Chae, Joel S Perlmutter, Michael Mccormack, Elizabeth Hahn, Stacey K Barton, Noelle Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: Knowledge of one's gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample.

METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic …

Evaluating Cognition In Individuals With Huntington Disease: Neuroqol Cognitive Functioning Measures, Jin-Shei Lai, Siera Goodnight, Nancy R Downing, Rebecca E Ready, Jane S Paulsen, Anna L Kratz, Julie C Stout, Michael K Mccormack, David Cella, Christopher Ross, Jenna Russell, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD.

METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2.0 and EQ5D), and a depression measure (PROMIS Depression). Measures of functioning The Total …

Got Caries? Breast Milk And Early Childhood Caries?, Megan L. Dean, Rebecca Fields, Hannah Fritz

Dental Hygiene Student Scholarship

Objective: To provide an analysis of the association between the longevity of breastfeeding and development of ECC. Determine the optimal time frame in which mothers should cease breastfeeding to reduce ECC development. Methods: Dr. Brickhouse, PubMed, Google Scholar and other scholarly databases were utilized to find current scientific evidence on the effects of breast milk on ECC. Relevant articles were summarized to write a review of literature. 16 articles published from 2015 to the present date were reviewed and cited. Results: From the studies, there is strong evidence to support breastfeeding beyond 12 months of age increases the prevalence …

Type 2 Diabetes, Aj Mimlitz

Global Issues in Public Health

The purpose of this two page educational document is to inform not only educators, but also students about the description of type two diabetes and what populations are affected, the epidemiology of type 2 diabetes, including how get diagnosed and how that diagnosis will affect specific outcomes, and the solutions to how we can prevent or begin to cure type 2 diabetes. This brief project shows plenty of statistics revolving around these main points. Research shows that “type 2 diabetes already causes 5 million deaths per year, expecting to become the 7th cause of death globally by 2030” (Alidrisi & …

An Adult With A Remnant Urachus Anomaly Diagnosed In The Emergency Department., Alan Lucerna, James Lee, James Espinosa, Risha Hertz, Victor Scali

Rowan-Virtua School of Osteopathic Medicine Departmental Research

The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent "pulling sensation" in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In …

Suicidal Ideation Assessment In Individuals With Premanifest And Manifest Huntington Disease., Melissa Wesson, Nicholas R Boileau, Joel S Perlmutter, Jane S Paulsen, Stacey K Barton, Michael K Mccormack, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington disease (HD) is associated with increased risk of suicide.

OBJECTIVE: This study compares suicide ideation in HD to the general population, assesses factors associated with increased prevalence of suicidal thoughts, and compares clinician-rated to self-reported assessments of suicidal ideation.

METHODS: We examined 496 participants with premanifest or manifest HD. Clinician-rated suicidal ideation was measured using the Problem Behaviors Assessment - short form. Self-reported ideation was measured using two items from the HDQLIFE Concern with Death and Dying item bank. Independent sample t-tests were conducted to compare the prevalence of suicidal thoughts between our HD sample and the U.S. …

Relationships Among Apathy, Health-Related Quality Of Life, And Function In Huntington's Disease., Nora E Fritz, Nicholas R Boileau, Julie C Stout, Rebecca Ready, Joel S Perlmutter, Jane S Paulsen, Kimberly Quaid, Stacey Barton, Michael K Mccormack, Susan L Perlman, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Up to 90% of individuals with Huntington's disease (HD)-a progressive, inherited neurodegenerative disorder-experience apathy. Apathy is particularly debilitating because it is marked by a reduction in goal-directed behaviors, including self-care, social interactions, and mobility. The objective of this study was to examine relationships between variables of apathy, functional status, physical function, cognitive function, behavioral status/emotional function, and health-related quality of life. Clinician-rated measures of physical, cognitive, and behavioral function, including one clinician-rated item on apathy, and self-reported measures of physical function, health-related quality of life, and emotional, cognitive, and social function were collected in a single session from 487 persons …

A New Measure For End Of Life Planning, Preparation, And Preferences In Huntington Disease: Hdqlife End Of Life Planning, Noelle E Carlozzi, E A Hahn, S A Frank, J S Perlmutter, N D Downing, M K Mccormack, S Barton, M A Nance, S G Schilling, Hdqlife Site Investigators And Coordinators

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Huntington disease is a fatal inherited neurodegenerative disease. Because the end result of Huntington disease is death due to Huntington disease-related causes, there is a need for better understanding and caring for individuals at their end of life.

AIM: The purpose of this study was to develop a new measure to evaluate end of life planning.

DESIGN: We conducted qualitative focus groups, solicited expert input, and completed a literature review to develop a 16-item measure to evaluate important aspects of end of life planning for Huntington disease. Item response theory and differential item functioning analyses were utilized to examine …

Microcephaly, Christianne E. Albers

Global Issues in Public Health

Microcephaly is a noncommunicable condition causing the head of an infant to be smaller than what is typical. Microcephaly can cause delays in developmental milestones and/or can cause other conditions such as epilepsy, cerebral palsy, learning disabilities, hearing loss and vision problems. Microcephaly is found more frequently in certain populations of the world than others, specifically those with an increased number of cases with Zika virus. Women need to take preventative measures to ensure their unborn child is safe from the Zika virus. The Zika virus is not the only way microcephaly can occur. Many other causes like exposure to …

Aberrant Brain Functional Connectivity In Newborns With Congenital Heart Disease Before Cardiac Surgery, Josepheen De Asis-Cruz, Mary T. Donofrio, Gilbert Vezina, Catherine Limperopoulos

Pediatrics Faculty Publications

Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics. We report for the first time intact global network …

The Developmental And Genetic Basis Of ‘Clubfoot’ In The Peroneal Muscular Atrophy Mutant Mouse, J. Martin Collinson, Nils Lindström, Carlos Neves, Karen Wallace, Caroline Meharg, Rebecca Charles, Zoe Ross, Amy Fraser, Ivan Mbogo, Kadri Oras, Masaru Nakamoto, Simon Barker, Suzanne Duce, Zosia Miedzybrodzka, Neil Vargesson

Biology Faculty Publications

Genetic factors underlying the human limb abnormality congenital talipes equinovarus (‘clubfoot’) remain incompletely understood. The spontaneous autosomal recessive mouse ‘peroneal muscular atrophy’ mutant (PMA) is a faithful morphological model of human clubfoot. In PMA mice, the dorsal (peroneal) branches of the sciatic nerves are absent. In this study, the primary developmental defect was identified as a reduced growth of sciatic nerve lateral motor column (LMC) neurons leading to failure to project to dorsal (peroneal) lower limb muscle blocks. The pma mutation was mapped and a candidate gene encoding LIM-domain kinase 1 (Limk1) identified, which is upregulated in mutant lateral LMC …

The Effectiveness Of Interventions And Bundles For Central Line-Associated Bloodstream Infections In The Neonatal Intensive Care Unit, Mohamad Alhamwi

Honors Undergraduate Theses

Introduction: Central Line-Associated Bloodstream Infections (CLABSIs) are a major cause of increased mortality, morbidity and healthcare costs in neonatal intensive care units (NICUs) patients. Despite CDC's efforts to reduce infection rates, patients often suffer consequences. The objective of this study is to perform a systematic review of strategies utilized in the neonatal population and evaluate them with the current CDC's guidelines to assess the effectiveness of bundles in preventing CLABSI in NICUs.

Methods: A systematic literature search was conducted using CINAHL Plus with Text, Cochrane Database of Systematic Reviews and MEDLINE from January 2008 up to 2018. There were multiple …

Implementing Lean Daily Management System To Improve Cvor First Case On-Time Starts, Haley Borchers, Kelly Fehlhafer, Barbara Mueller, Jessica Nichols, Sarah Talken, Mary Hunter, Kenneth Sam

Posters

No abstract provided.

Sustainability And Outcomes Of A Standardized Aminoglycoside Induced Ototoxicity Monitoring Algorithm, Claire Elson, Christopher M. Oermann, Michelle Weltman, Ellen Meier

Posters

No abstract provided.

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% …

Analysis Of Ocular Changes In A Cyp1b1-/- Mouse, Emily Arison

Williams Honors College, Honors Research Projects

The goal of this research is to develop a mouse model with a mutation in the CYP1B1 gene that would result in a phenotype similar to that seen in Primary Congenital Glaucoma (PCG) human patients. Using this mouse model, structural changes in eyes and upregulation of certain proteins were observed compared to a normal mouse. Examination of the cornea, iris, retina, ciliary body, and iridocorneal angle showed structural changes in CYP1B1 mice compared to wild type mice. These results were similar to those described in studies using other animal models. Furthermore, the current study confirmed earlier findings in other animal …

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 …