Medicine and Health Sciences Commons^™

Eliminating Contamination In Umbilical Cord Blood Culture Sampling For Early-Onset Neonatal Sepsis., Vilmaris Quinones Cardona, Vanessa Lowery, David Cooperberg, Endla K Anday, Alison J Carey

Department of Pediatrics Faculty Papers

Introduction: Despite the advantages of umbilical cord blood culture (UCBC) use for diagnosis of early onset sepsis (EOS), contamination rates have deterred neonatologists from its widespread use. We aimed to implement UCBC collection in a level III neonatal intensive care unit (NICU) and apply quality improvement (QI) methods to reduce contamination in the diagnosis of early onset sepsis. Methods: Single-center implementation study utilizing quality improvement methodology to achieve 0% contamination rate in UCBC samples using the Plan-Do-Study-Act (PDSA) model for improvement. UCBC was obtained in conjunction with peripheral blood cultures (PBC) in neonates admitted to the NICU due to maternal …

Coping In Pediatric Burn Survivors And Its Relation To Social Functioning And Self-Concept, Mira D H Snider, Sarah Young, Paul T Enlow, Corrine Ahrabi-Nejad, Ariel M Aballay, Christina L Duncan

Department of Pediatrics Faculty Papers

Pediatric burn survivors experience increased risk for bullying, stigmatization, body image concerns, and problematic social functioning. Although coping behaviors are associated with engagement in social supports and positive self-concept in multiple pediatric illness populations, their relation has not been examined in pediatric burns. This study examined coping in relation to social functioning and self-concept in 51 pediatric burn survivors aged 7–17years (M=12.54; SD=2.65). Survivors and their caregivers completed the Child Coping Strategies Checklist (CCSC; youth report); the Burn Injury Social Questionnaire (BISQ; parent and youth report); and the Piers-Harris Children’s Self-Concept Scale-2 (PH-2; youth report). Associations between coping, social functioning, …

Disparities In Delaware Caregiver Beliefs About The Covid-19 Vaccine For Their Children, Thao-Ly Phan, Paul T Enlow, Michael K. Wong, Amanda M. Lewis, Anne E Kazak, Jonathan M. Miller

Department of Pediatrics Faculty Papers

Objective: To describe sociodemographic disparities in caregiver beliefs about the COVID-19 vaccine for their children. Methods: This was a cross-sectional study, linking caregiver-reported data to geocoded sociodemographic data from child EHRs. Caregivers of children receiving care in a Delaware pediatric healthcare system were invited to complete a survey about COVID-19 vaccine beliefs from March 19 to April 16, 2021. Results: 1499 caregivers participated (18% Black, 11% Hispanic, 32% public insurance, 12% rural). 54% of caregivers intended to vaccinate their children, while 34% were unsure and 12% would not. Caregivers of younger children (aOR 3.70, CI 2.36-5.79), Black children (aOR 2.11, …

Promoter Considerations In The Design Of Lentiviral Vectors For Use In Treating Lysosomal Storage Diseases, Estera Rintz, Takashi Higuchi, Hiroshi Kobayashi, Deni S Galileo, Grzegorz Wegrzyn, Shunji Tomatsu

Department of Pediatrics Faculty Papers

More than 50 lysosomal storage diseases (LSDs) are associated with lysosomal dysfunctions with the frequency of 1:5,000 live births. As a result of missing enzyme activity, the lysosome dysfunction accumulates undegraded or partially degraded molecules, affecting the entire body. Most of them are life-threatening diseases where patients could die within the first or second decade of life. Approximately 20 LSDs have the approved treatments, which do not provide the cure for the disorder. Therefore, the delivery of missing genes through gene therapy is a promising approach for LSDs. Over the years, ex vivo lentiviral-mediated gene therapy for LSDs has been …

Clinical Assessment Of Ventricular Wall Stress In Understanding Compensatory Hypertrophic Response And Maladaptive Ventricular Remodeling, Takeshi Tsuda

Department of Pediatrics Faculty Papers

Ventricular wall stress (WS) is an important hemodynamic parameter to represent myocardial oxygen demand and ventricular workload. The normalization of WS is regarded as a physiological feedback signal that regulates the rate and extent of ventricular hypertrophy to maintain myocardial homeostasis. Although hypertrophy is an adaptive response to increased biomechanical stress, persistent hypertrophic stimulation forces the stressed myocardium into a progressive maladaptive process called ventricular remodeling, consisting of ventricular dilatation and dysfunction in conjunction with the development of myocyte hypertrophy, apoptosis, and fibrosis. The critical determinant of this pathological transition is not fully understood, but an energetic mismatch due to …

The Pnpla3 Rs738409 Variant But Not Mboat7 Rs641738 Is A Risk Factor For Nonalcoholic Fatty Liver Disease In Obese U.S. Children Of Hispanic Ethnicity, Sana Mansoor, Anshu Maheshwari, Matthew D. Di Guglielmo, Katryn Furuya, Makala Wang, Erin Crowgey, Zarela Molle-Rios, Zhaoping He

Department of Pediatrics Faculty Papers

Purpose: The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity.

Methods: Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were …

Glycosaminoglycans As Biomarkers For Mucopolysaccharidoses And Other Disorders, Paige Amendum, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, Estera Rintz, Jobayer Hossain, Wendi Xiao, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG is deficient. In a previous study, we found elevation of GAGs in a subset of patients without MPS. In the current study, we aim to investigate serum GAG levels in patients with conditions beyond MPS. In our investigated samples, the largest group of patients had a clinical diagnosis of viral or non-viral encephalopathy. Clinical diagnoses and conditions …

Targeted Provider Education And Pre-Visit Planning Increase Rates Of Formal Depression Screening In Childhood-Onset Sle., Evan Mulvihill, Rebecca Furru, Alana Goldstein-Leever, Kyla Driest, Stephanie Lemle, Darby Macdonald, Emily Frost, Vidya Sivaraman

Department of Pediatrics Faculty Papers

BACKGROUND: Despite being at high risk for depression, patients with childhood-onset systemic lupus erythematosus (c-SLE) are infrequently and inconsistently screened for depression by their pediatric rheumatologists. We aimed to systematically increase rates of formal depression screening for c-SLE patients in an academic Pediatric Rheumatology clinic.

METHODS: Our multi-disciplinary quality improvement (QI) team used electronic health record (EHR) documentation to retroactively calculate baseline rates of documented depression screening using the Patient Health Questionnaire-9 (PHQ-9). We then engaged key stakeholders to develop a clinical workflow for formal depression screening in the clinic. We also provided education to providers regarding mental health disorders …

Genomic Variability In The Survival Motor Neuron Genes (Smn1 And Smn2): Implications For Spinal Muscular Atrophy Phenotype And Therapeutics Development, Matthew E R Butchbach

Department of Pediatrics Faculty Papers

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is characterized by loss of spinal motor neurons leading to muscle weakness and atrophy. SMA results from the loss of survival motor neuron 1 (SMN1) gene but retention of its paralog SMN2. The copy numbers of SMN1 and SMN2 are variable within the human population with SMN2 copy number inversely correlating with SMA severity. Current therapeutic options for SMA focus on increasing SMN2 expression and alternative splicing so as to increase the amount of SMN protein. Recent work has demonstrated that not all …

Automated Assessment Of Thoracic-Abdominal Asynchrony In Patients With Morquio Syndrome., Madhavi V Ratnagiri, Yan Zhu, Tariq Rahman, Mary Theroux, Shunji Tomatsu, Thomas H Shaffer

Department of Pediatrics Faculty Papers

Morquio syndrome is a rare disease caused by a disorder in the storage of mucopolysaccharides that affects multiple organs, including musculoskeletal, respiratory, cardiovascular, and digestive systems. Respiratory failure is one of the leading causes of mortality in Morquio patients; thus, respiratory function testing is vital to the management of the disease. An automated respiratory assessment methodology using the pneuRIP device and a machine-learning algorithm was developed. pneuRIP is a noninvasive approach that uses differences between thoracic and abdominal movements (thoracic-abdominal asynchrony) during respiration to assess respiratory status. The technique was evaluated on 17 patients with Morquio (9 females and 8 …

Long-Term Safety Of Growth Hormone Treatment In Childhood: Two Large Observational Studies: Nordinet Ios And Answer., Lars Sävendahl, Michel Polak, Philippe Backeljauw, Joanne C Blair, Bradley S Miller, Tilman R Rohrer, Anita Hokken-Koelega, Alberto Pietropoli, Nicky Kelepouris, Judith L. Ross

Department of Pediatrics Faculty Papers

CONTEXT: Growth hormone (GH) treatment has a generally good safety profile; however, concerns about increased mortality risk in adulthood have been raised.

OBJECTIVE: This work aims to assess the long-term safety of GH treatment in clinical practice.

METHODS: Data were collected from 676 clinics participating in 2 multicenter longitudinal observational studies: the NordiNet International Outcome Study (2006-2016, Europe) and ANSWER Program (2002-2016, USA). Pediatric patients treated with GH were classified into 3 risk groups based on diagnosis. Intervention consisted of daily GH treatment, and main outcome measures included incidence rates (events/1000 patient-years) of adverse drug reactions (ADRs), serious adverse events …

A Diagnostic Dilemma Of Antiglutamic Acid Decarboxylase 65 (Anti-Gad 65) And Mycoplasma Pneumoniae Antibodies In A Girl Presenting With Acute-Onset Obsessive-Compulsive Disorder., Cecilia Freeman, Antanoid J Langeveldt, Robyn R Miller

Department of Pediatrics Faculty Papers

Acute-onset obsessive-compulsive disorder can be challenging, especially when triggered by an underlying disease process. Clinicians often turn to Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), but it is important to consider a broad differential in these patients. We present a case of a 9-year-old girl with acute-onset obsessive-compulsive behavior likely triggered by a post-infectious phenomenon that ultimately resolved following treatment with plasmapheresis.

Phenotype Expression Variability In Children With Gabrb3 Heterozygous Mutations., Abdulhafeez M. Khair, Alana E. Salvucci

Department of Pediatrics Faculty Papers

GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and possible cellular response to histamine. The β3 subunit is expressed in cerebral grey matter, thalami, hippocampi, and cerebellum, among other structures. Faulty GABRB3 function is linked to several neurological disorders and clinical syndromes. However, the spectrum of such disorders is not yet well known. We present three case reports highlighting the potentially expanding clinical phenotype …