Pediatrics Commons^™

Expanding The Phenotype Of Hnrnpu-Related Disorders To Include Brief, Resolved, Unexplained Events (Brue), Jonah Scheffler, Kristen P. Fishler, Lois J. Starr

Child Health Research Institute Pediatric Research Forum

hnRNP-U deficiency is caused by pathogenic variants in HNRNPU, which encodes the heterogeneous nuclear ribonucleoprotein U (HNRNPU), a highly conserved protein responsible for assisting spliceosomes in mediating transcription and alternative splicing activity. HnRNPs are responsible for the regulation of translation at the presynaptic sites as well as the transportation of stabilized mRNAs along the axonal cytoskeleton. Here, we report a 2-year-old-male with a HNRNPU variant with a new presentation of apparent recurrent apneic spells with an underlying epileptic origin. These were described as apnea followed by desaturation and tachycardia in the 180's-200 range prior to resolution of symptoms. He also …

Relationship Between Mir-335 And Sterol Levels After In Vitro Hypoxia-Ischemia Of Primary Brain Cells, Namood-E Sahar, Zeljka Korade, Eric Peeples

Child Health Research Institute Pediatric Research Forum

Background/Purpose: Cholesterol homeostasis is vital for synaptogenesis and myelination during fetal and neonatal brain development. Both brain and plasma sterol levels have been shown to be associated with outcomes in adult stroke, and animal studies have suggested brain and plasma sterol changes in neonatal hypoxic-ischemic brain injury. MicroRNA-335 (miR-335) has been associated with brain sterol metabolism and our preliminary data showed that sterol metabolism is dysregulated in the brain after hypoxic-ischemic injury in a mouse model. This study sought to describe the effect of oxygen-glucose deprivation in vitro on individual brain cell populations and to validate the associations between sterol …

Postnatal Diagnosis Of Dandy Walker Malformation With Encephalocele, Heerali Patel

Child Health Research Institute Pediatric Research Forum

Encephalocele is a defect of the neural tube. Dandy Walker malformation (DWM) is a defect involving agenesis or hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and enlargement of the posterior fossa. This is a case of a female preterm infant born at 36 weeks’ gestation who presented with DWM and an encapsulated occipital encephalocele at birth. The pregnancy was complicated by poorly controlled maternal diabetes. Prenatal ultrasound indicated a central nervous system anomaly. Amniocentesis did not show chromosomal abnormality. The infant also presented with polydactyly of the right thumb. MRI showed evidence of soft tissue within …

3d Printed Adjustable Glasses: A New Model Of Corrective Lens Delivery For Pediatric Refractive Error In Underserved Communities, Nathan Ostlie, Mari Ogino, Donny Suh, Gabe Linke, James Hermsen

Child Health Research Institute Pediatric Research Forum

Purpose:

Uncorrected refractive error (URE) remains a major cause of preventable vision impairment in the pediatric population with large inequities in disease burden. The present study aims to elucidate the global burden of pediatric URE and explore the current lens delivery systems which address this problem. Within this framework, we introduce a new model of corrective lens delivery that may improve upon existing models.

Methods:

The present study involved an extensive literature review of epidemiological data to determine the global prevalence of URE. Prevalence data was then compared against WHO data on refractionist coverage gaps divided by region. …

Perceptions Of Pediatricians On The Sars-Cov2 Vaccine, Karl Khandalavala, Kari Simonsen, Jeffrey A. Robinson

Child Health Research Institute Pediatric Research Forum

Introduction: The novel SARs-CoV2 coronavirus has infected approximately 30,000,000 people in the USA. To date, approximately 146 million doses of SARs-CoV2 vaccines have been administered. Perceptions of rapid vaccine development have resulted in reported vaccine hesitancy and refusal. Though not currently FDA approved for use in pediatric populations, but pediatric vaccination may contribute to herd immunity. Previous study demonstrates that physician recommendations significantly impact perceptions of routine pediatric immunizations among parents. Given this historical data, this study aimed to describe the strength of recommendation by pediatricians for the SARs-CoV2 vaccine for pediatric patients and their parents.

Methods: A …

Is Biventricular Vascular Coupling A Better Indicator Of Ventriculo-Ventricular Interaction In Congenital Heart Disease?, Emily L. Yang, Shelby Kutty, Brian D. Soriano, Sathish Mallenahalli, Mark R. Ferguson, Mark B. Lewin, Sujatha Buddhe

Journal Articles: Pediatrics

BACKGROUND: Ventriculo-ventricular interactions are known to exist, though not well quantified. We hypothesised that the ventricular-vascular coupling ratio assessed by cardiovascular MRI would provide insight into this relationship. We also sought to compare MRI-derived ventricular-vascular coupling ratio to echocardiography and patient outcomes.

METHODS: Children with cardiac disease and biventricular physiology were included. Sanz's and Bullet methods were used to calculate ventricular-vascular coupling ratio by MRI and echocardiography, respectively. Subgroup analysis was performed for right and left heart diseases. Univariate and multivariate regressions were performed to determine associations with outcomes.

RESULTS: A total of 55 patients (age 14.3 ± 2.5 years) …

Echocardiographic Screening Of Anomalous Origin Of Coronary Arteries In Athletes With A Focus On High Take-Off, Massimiliano Cantinotti, Raffaele Giordano, Nadia Assanta, Martin Koestenberger, Eliana Franchi, Pietro Marchese, Alberto Clemente, Shelby Kutty, Flavio D'Ascenzi

Journal Articles: Pediatrics

Anomalous aortic origin of coronary arteries (AAOCA) represents a rare congenital heart disease. However, this disease is the second most common cause of sudden cardiac death in apparently healthy athletes. The aim of this systematic review is to analyze the feasibility and the detection rate of AAOCA by echocardiography in children and adults. A literature search was performed within the National Library of Medicine using the following keywords: coronary artery origin anomalies and echocardiography; then, the search was redefined by adding the keywords: athletes, children, and high take-off. Nine echocardiographic studies investigating AAOCA and a total of 33,592 children and …

Phenotypes Of Adults With Congenital Heart Disease Around The Globe: A Cluster Analysis, Edward Callus, Silvana Pagliuca, Sara Boveri, Federico Ambrogi, Koen Luyckx, Adrienne H. Kovacs, Silke Apers, Werner Budts, Junko Enomoto, Maayke A. Sluman, Jou-Kou Wang, Jamie L. Jackson, Paul Khairy, Stephen C. Cook, Shanthi Chidambarathanu, Luis Alday, Katrine Eriksen, Mikael Dellborg, Malin Berghammer, Bengt Johansson, Andrew S. Mackie, Samuel Menahem, Maryanne Caruana, Gruschen Veldtman, Alexandra Soufi, Susan M. Fernandes, Kamila White, Shelby Kutty, Philip Moons, Approach-Is Consortium And The International Society For Adult Congenital Heart Disease (Isachd)

Journal Articles: Pediatrics

OBJECTIVE: To derive cluster analysis-based groupings for adults with congenital heart disease (ACHD) when it comes to perceived health, psychological functioning, health behaviours and quality of life (QoL).

METHODS: This study was part of a larger worldwide multicentre study called APPROACH-IS; a cross sectional study which recruited 4028 patients (2013-2015) from 15 participating countries. A hierarchical cluster analysis was performed using Ward's method in order to group patients with similar psychological characteristics, which were defined by taking into consideration the scores of the following tests: Sense Of Coherence, Health Behavior Scale (physical exercise score), Hospital Anxiety Depression Scale, Illness Perception …

Intraventricular Septation In The Context Of Dilated Cardiomyopathy Associated With Ttn Mutation, Karl R. Khandalavala, Jean A. Ballweg, Stanley J. Radio, Jeffrey A. Robinson

Journal Articles: Pediatrics

A 6-month-old infant boy presented with symptomatic heart failure. Dilated cardiomyopathy was found in association with a mutation in TTN. Structural heart disease included novel septation of the left ventricle with a fenestrated membrane resulting from aberrant congenital mitral valve apparatus formation. (Level of Difficulty: Advanced.).

Intrauterine Transfer Of Polyunsaturated Fatty Acids In Mother–Infant Dyads As Analyzed At Time Of Delivery, Vanessa Woodward, Melissa K. Thoene, Matthew Van Ormer, Maranda Thompson, Corrine K. Hanson, Sathish Kumar Natarajan, Maheswari Mukherjee, Ana G. Yuil-Valdes, Tara M. Nordgren, Arzu Ulu, Kristina Harris Jackson, Ann Anderson-Berry

Journal Articles: Pediatrics

Polyunsaturated fatty acids (PUFAs) are essential for fetal development, and intrauterine transfer is the only supply of PUFAs to the fetus. The prevailing theory of gestational nutrient transfer is that certain nutrients (including PUFAs) may have prioritized transport across the placenta. Numerous studies have identified correlations between maternal and infant fatty acid concentrations; however, little is known about what role maternal PUFA status may play in differential intrauterine nutrient transfer. Twenty mother–infant dyads were enrolled at delivery for collection of maternal and umbilical cord blood, and placental tissue samples. Plasma concentrations of PUFAs were assessed using gas chromatography (GC-FID). Intrauterine …

Early Enteral Feeding In Preterm Infants: A Narrative Review Of The Nutritional, Metabolic, And Developmental Benefits, Melissa K. Thoene, Ann Anderson-Berry

Journal Articles: Pediatrics

Enteral feeding is the preferred method of nutrient provision for preterm infants. Though parenteral nutrition remains an alternative to provide critical nutrition after preterm delivery, the literature suggests that enteral feeding still confers significant nutritional and non-nutritional benefits. Therefore, the purpose of this narrative review is to summarize health and clinical benefits of early enteral feeding within the first month of life in preterm infants. Likewise, this review also proposes methods to improve enteral delivery in clinical care, including a proposal for decision-making of initiation and advancement of enteral feeding. An extensive literature review assessed enteral studies in preterm infants …

Qupath Digital Immunohistochemical Analysis Of Placental Tissue, Ashley L. Hein, Maheswari Mukherjee, Geoffrey A. Talmon, Sathish Kumar Natarajan, Tara M. Nordgren, Elizabeth Lyden, Corrine K. Hanson, Jesse L. Cox, Annelisse Santiago-Pintado, Mariam A. Molani, Matthew Van Ormer, Maranda Thompson, Melissa K. Thoene, Aunum Akhter, Ann Anderson-Berry, Ana G. Yuil-Valdes

Journal Articles: Pediatrics

Background: QuPath is an open-source digital image analyzer notable for its user-friendly design, cross-platform compatibility, and customizable functionality. Since it was first released in 2016, at least 624 publications have reported its use, and it has been applied in a wide spectrum of settings. However, there are currently limited reports of its use in placental tissue. Here, we present the use of QuPath to quantify staining of G-protein coupled receptor 18 (GPR18), the receptor for the pro-resolving lipid mediator Resolvin D2, in placental tissue.

Methods: Whole slide images of vascular smooth muscle (VSM) and extravillous trophoblast (EVT) cells stained for …

Effect Of Maternal Retinol Status At Time Of Term Delivery On Retinol Placental Concentration, Intrauterine Transfer Rate, And Newborn Retinol Status, Melissa K. Thoene, Haley Haskett, Jeremy Furtado, Maranda Thompson, Matthew Van Ormer, Corrine K. Hanson, Ann Anderson-Berry

Journal Articles: Pediatrics

Retinol (vitamin A) is essential, so the objective of this Institutional Review Board approved study is to evaluate retinol placental concentration, intrauterine transfer, and neonatal status at time of term delivery between cases of maternal retinol adequacy, insufficiency, and deficiency in a United States population. Birth information and biological samples were collected for mother-infant dyads (n = 260). Maternal and umbilical cord blood retinol concentrations (n = 260) were analyzed by HPLC and categorized: deficient (≤0.7 umol/L), insufficient (>0.7-1.05 umol/L), adequate (>1.05 umol/L). Intrauterine transfer rate was calculated: (umbilical cord blood retinol concentration/maternal retinol concentration) × …

Development Of An Lc-Esi-Ms/Ms Method For Determination Of A Novel Pyrrolomycin (Mp-1) And Application To Pre-Clinical Adme Studies, Wafaa N. Aldhafiri

Theses & Dissertations

A rapid, selective, and sensitive liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) method was developed and validated for quantitation of a novel Pyrrolomycin (MP-1) in mouse plasma. MP-1 was extracted from plasma utilizing a structural analog (PL-3) as the internal standard (IS). Analyte separation was achieved using a Waters Acquity UPLC®BEH C18 column (1.7 µm, 100 x 2.1 mm) protected with Acquity UPLC C18 guard column. Mobile phase consisted of 0.1% acetic acid in water (10%) and methanol (90%) at a total flow rate of 0.25 mL/min. The mass spectrometer was operated at unit resolution in the multiple reaction …

Sé Un Héroe Tú También, Samantha S. Rohe, Sophie Cemaj

Books: Pediatrics

This children's book explains COVID-19 and how to decrease the incidence of transmissions.

Deep Learning For Improved Risk Prediction In Surgical Outcomes, Ali Jalali, Hannah Lonsdale, Nhue Do, Jacquelin Peck, Monesha Gupta, Shelby Kutty, Sharon R Ghazarian, Jeffrey P. Jacobs, Mohamed Rehman, Luis M. Ahumada

Journal Articles: Pediatrics

The Norwood surgical procedure restores functional systemic circulation in neonatal patients with single ventricle congenital heart defects, but this complex procedure carries a high mortality rate. In this study we address the need to provide an accurate patient specific risk prediction for one-year postoperative mortality or cardiac transplantation and prolonged length of hospital stay with the purpose of assisting clinicians and patients' families in the preoperative decision making process. Currently available risk prediction models either do not provide patient specific risk factors or only predict in-hospital mortality rates. We apply machine learning models to predict and calculate individual patient risk …

Omega-3 Long-Chain Polyunsaturated Fatty Acids Intake By Ethnicity, Income, And Education Level In The United States: Nhanes 2003-201414., Caleb A. Cave, Nicholas Hein, Lynette M. Smith, Ann Anderson-Berry, Chesney K. Richter, Karl Stessy M. Bisselou, Adams Kusi Appiah, Penny Kris-Etherton, Ann C. Skulas-Ray, Maranda Thompson, Tara M. Nordgren, Corrine K. Hanson, Melissa K. Thoene

Journal Articles: Pediatrics

Although there are many recognized health benefits for the consumption of omega-3 (n-3) long-chain polyunsaturated fatty acids (LCPUFA), intake in the United States remains below recommended amounts. This analysis was designed to provide an updated assessment of fish and n-3 LCPUFA intake (eicosapentaenoic (EPA), docosahexaenoic acid (DHA), and EPA+DHA) in the United States adult population, based on education, income, and race/ethnicity, using data from the 2003-2014 National Health and Nutrition Examination Survey (NHANES) (n = 44,585). Over this survey period, participants with less education and lower income had significantly lower n-3 LCPUFA intakes and fish intakes (p < 0.001 for all between group comparisons). N-3 LCPUFA intake differed significantly according to ethnicity (p < 0.001), with the highest intake of n-3 LCPUFA and fish in individuals in the "Other" category (including Asian Americans). Supplement use increased EPA + DHA intake, but only 7.4% of individuals consistently took supplements. Overall, n-3 LCPUFA intake in this study population was low, but our findings indicate that individuals with lower educational attainment and income are at even higher risk of lower n-3 LCPUFA and fish intake.

Williams Syndrome And Neonatal Cardiac Surgery For Congenital Single Ventricle, Taylor E. Katt, Robert L. Spicer, Anji T. Yetman, Ali N. Ibrahimiye, James M. Hammel, Jeffrey A. Robinson

Journal Articles: Pediatrics

Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS. This case demonstrates the difficulty in managing patients with WS with complex cardiac defects. To our knowledge, this is the first reported single-ventricle physiology in a patient with WS. (Level of Difficulty: Advanced.).

Be A Hero Too, Samantha S. Rohe, Sophie Cemaj

Books: Pediatrics

This children's book explains COVID-19 and how to decrease the incidence of transmissions.

An Uncommon Adverse Effect Of A Common Drug-Dress Syndrome-Not Just Skin Deep!, Alamelu Udayappan

Graduate Medical Education Research Journal

Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) Syndrome is a rare, life-threatening hypersensitivity reaction that causes skin exfoliation, hematological abnormalities, lymphadenopathy, and extensive internal organ involvement. Characterized by a long latency period, this unusual side effect of aromatic anti-epileptic drugs, as well as many common drugs cause a mortality rate of up to 10% if left untreated. In the absence of a well-established therapy, primary and secondary prevention have a key role in the management of DRESS Syndrome. Herewith presenting a case of an adolescent girl with rashes and systemic symptoms, the cause of which, on obtaining a detailed …

Necrotizing Enterocolitis Following Gastroschisis Repair: An Update, Rachel K. Schlueter, Shahab F. Abdessalam, Stephen C. Raynor, Robert A. Cusick

Graduate Medical Education Research Journal

Purpose:

Necrotizing enterocolitis (NEC) is a known complication of gastroschisis with an incidence above the expected rate in the neonatal population. While many physicians today are aware of this association, the last publication to explore this association in detail and identify possible risk factors of NEC in gastroschisis patients was published over twenty years ago. From our large database of patients with gastroschisis managed by a single group of pediatric surgeons, we reviewed our experience and the recent literature to update what is known about gastroschisis and NEC.

Methods:

From 2001 to 2017, a gastroschisis registry was maintained. Data from …

Cardiovascular Magnetic Resonance Imaging Feature Tracking: Impact Of Training On Observer Performance And Reproducibility, Sören J. Backhaus, Georg Metschies, Marcus Billing, Johannes T. Kowallick, Roman J. Gertz, Tomas Lapinskas, Burkert Pieske, Joachim Lotz, Boris Bigalke, Shelby Kutty, Gerd Hasenfuß, Philipp Beerbaum, Sebastian Kelle, Andreas Schuster

Journal Articles: Pediatrics

BACKGROUND: Cardiovascular magnetic resonance feature tracking (CMR-FT) is increasingly used for myocardial deformation assessment including ventricular strain, showing prognostic value beyond established risk markers if used in experienced centres. Little is known about the impact of appropriate training on CMR-FT performance. Consequently, this study aimed to evaluate the impact of training on observer variance using different commercially available CMR-FT software.

METHODS: Intra- and inter-observer reproducibility was assessed prior to and after dedicated one-hour observer training. Employed FT software included 3 different commercially available platforms (TomTec, Medis, Circle). Left (LV) and right (RV) ventricular global longitudinal as well as LV circumferential …

Csf Inflammatory Markers Differ In Gram-Positive Versus Gram-Negative Shunt Infections., Gwenn Skar, David Synhorst, Matthew K. Beaver, Jessica N. Snowden

Journal Articles: Pediatrics

BACKGROUND: Cerebrospinal fluid (CSF) shunt placement is frequently complicated by bacterial infection. Shunt infection diagnosis relies on bacterial culture of CSF which can often produce false-negative results. Negative cultures present a conundrum for physicians as they are left to rely on other CSF indices, which can be unremarkable. New methods are needed to swiftly and accurately diagnose shunt infections. CSF chemokines and cytokines may prove useful as diagnostic biomarkers. The objective of this study was to evaluate the potential of systemic and CSF biomarkers for identification of CSF shunt infection.

METHODS: We conducted a retrospective chart review of children with …

Search Strategy For "The Benefits, Burdens, And Risks Of Participation In Pediatric Palliative Care And End Of Life Research: A Systematic Review", Pamela S. Hinds, Vanessa N. Madrigal, Cynthia J. Bell, Cynthia M. Schmidt, Amy R. Newman, Kim Mooney-Doyle, Jessica L. Spruit, Tessie October, Christine A. Fortney, Melissa Kurtz Uveges, Kitty Montgomery, Katherine Patterson Kelly, Meaghann S. Weaver

Search Strategies: Leon S. McGoogan Health Sciences Library

No abstract provided.

Quantification Of Lutein + Zeaxanthin Presence In Human Placenta And Correlations With Blood Levels And Maternal Dietary Intake, Melissa Thoene

Theses & Dissertations

Lutein + zeaxanthin are carotenoids most recognized in eye health, but less is known about their status and transfer during pregnancy. While quantified in maternal and umbilical cord blood, they have never been analyzed in placenta tissue. Therefore, the purpose of this dissertation is to firstly quantify lutein + zeaxanthin concentrations in human placenta and to later correlate with levels in maternal dietary intake, maternal serum, and umbilical cord blood. Proportions of lutein + zeaxanthin will also be compared within diet, placenta, maternal serum, and umbilical cord blood among additionally analyzed carotenoids including lycopene, β-cryptoxanthin, α-carotene, and β-carotene. Lutein + …

Association Between Systemic Inflammation And Nutritional Compounds In Maternal-Infant Dyads, Jessica N. Snowden

Theses & Dissertations

Many events during pregnancy and early infancy can affect infant brain development. Inflammation during pregnancy, around delivery and during early infancy appears to adversely affect infant brain development. As the brain is rapidly growing and developing from conception through early childhood, it is particularly vulnerable during this time to inflammatory insults, which may be exacerbated or ameliorated by nutritional factors. Inflammatory compounds, as well as many nutritional compounds, can be either pro- or anti-inflammatory. These compounds are of particular importance in preterm infants, who are at risk of deficiency in anti-inflammatory micronutrients typically stored as a result of prenatal maternal …

Atrioventricular Junctional Tachycardia With Exit Block In An Adolescent, Nicholas M. Cundiff, Jeffrey A. Robinson, Bryan C. Cannon, Christopher S. Snyder

Journal Articles: Pediatrics

No abstract provided.

Depressed Left And Right Ventricular Cardiac Output In Fetuses Of Diabetic Mothers, Jennifer Winter, Aparna Kulkarni, Mary Craft, Ling Li, Lisa K. Hornberger, David A. Danford, Shelby Kutty

Journal Articles: Pediatrics

INTRODUCTION: We compared right and left ventricular cardiac output (RVCO and LVCO) in fetuses of diabetic mothers (FDM) to a large normal cohort.

METHODS: We prospectively enrolled 264 normal fetuses and 30 FDM. Fetal CO parameters: semilunar valve velocity time integrals (AVVTI, PVVTI), ventricular outflow diameters (LVOTD, RVOTD), stroke volumes (AVSV, PVSV) were measured, and LVCO and RVCO calculated. These were normalized using nonlinear regression to estimated fetal weight (EFW) to provide means and standard deviations. Among FDMs, mean Z-scores and 95% confidence limits (CL) were calculated, and compared to zero.

RESULTS: LVCO, RVCO, and parameters they were calculated from, …

Atrioventricular Junctional Tachycardia With Exit Block In An Adolescent, Nicholas M. Cundiff, Jeffrey A. Robinson, Bryan C. Cannon, Christopher S. Snyder

Journal Articles: Pediatrics

No abstract provided.

Mir-133a Mimic Alleviates T1dm-Induced Systolic Dysfunction In Akita: An Mri-Based Study, Shyam S. Nandi, Hamid R. Shahshahan, Quanliang Shang, Shelby Kutty, Michael D. Boska, Paras K. Mishra

Journal Articles: Pediatrics

Diabetic cardiomyopathy is a leading cause of heart failure. Developing a novel therapeutic strategy for diabetic cardiomyopathy and characterizing animal models used for diabetes mellitus (DM) are important. Insulin 2 mutant (Ins2^+/-) Akita is a spontaneous, genetic, mouse model for T1DM, which is relevant to humans. There are contrasting reports on systolic dysfunction and pathological remodeling (hypertrophy and fibrosis) in Akita heart. Here, we used magnetic resonance imaging (MRI) approach, a gold standard reference for evaluating cardiac function, to measure ejection fraction (indicator of systolic dysfunction) in Akita. Moreover, we performed Wheat Germ Agglutinin (WGA) and hematoxylin and …