Pediatrics Commons^™

Genotype-Phenotype Association And Variant Characterization In Diamond-Blackfan Anemia Caused By Pathogenic Variants In, M. D. Gianferante, M. W. Wlodarski, E. Atsidaftos, L. Da Costa, P. Delaporta, J. E. Farrar, M. Hussain, J. M. Lipton, A. Vlachos, N. Giri, +11 Additional Authors

Journal Articles

Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 deletions and phenotypes not common in DBA. We conducted a multi-institutional genotype-phenotype study of 45 patients with DBA associated with pathogenic RPL35A germline variants and curated the variant data on 21 additional cases from the literature. Genotype-phenotype analyses were conducted comparing patients with large deletions versus all other pathogenic variants in RPL35A. Twenty-two of the 45 cases had large deletions in RPL35A. After adjusting for …

Assessing The Importance Of Interleukin-6 In Covid-19 - Authors' Reply., D. E. Leisman, L. Ronner, R. Pinotti, M. D. Taylor, P. Sinha, C. S. Calfee, A. V. Hirayama, F. Mastroianni, C. J. Turtle, C. S. Deutschman, +2 Additional Authors

Journal Articles

No abstract provided.

Pediatric Caregiver Health Literacy: Comparing Perceptions Of Pediatricians And Nurse Practitioners, Kirbey Flora

Mahurin Honors College Capstone Experience/Thesis Projects

Throughout life, most people will interact with the healthcare system to manage information in order to make healthcare decisions. Health literacy is the ability to comprehend health information needed to make healthcare decisions. Pediatric patients often do not have a voice in their healthcare decisions; therefore, their health outcomes may be affected by the health literacy of their caregivers. In addition, the child’s health may be impacted by the ability of the healthcare team to provide appropriate health education. The purpose of this honors thesis was to determine pediatric healthcare providers’ perception of health literacy in their practices. Qualitative data …

Acute Pediatric Stroke, Saptharishi Lalgudi Ganesan, Cecil Hahn

Data and Test Instruments

No abstract provided.

Clinical Neurophysiology And Social Media: Time To Take The Plunge!, Saptharishi Lalgudi Ganesan, Aatif M. Husain

Data and Test Instruments

No abstract provided.

A Survey Of Neuromonitoring Practices In North American Pediatric Intensive Care Units, Saptharishi Lalgudi Ganesan

Data and Test Instruments

No abstract provided.

Data From: Age And Sex-Based References Ranges Imbedded Within The Electronic Health Record For Common Obesity-Comorbidity Screens At Children's Mercy Kansas City, Mitchell Barnes, Emily Paprocki, Kelsee Halpin

Data Sets

The included data table depicts the age and sex-specific references ranges for common obesity-comorbidity screens performed at Children's Mercy Kansas City, including systolic blood pressure, diastolic blood pressure, lipid profile results, and hepatic transaminases.

Graduate Medical Education Annual Report 2020-2021, Children's Mercy Hospital

GME Annual Reports

Annual report of the Children's Mercy Hospital Graduate Medical Education department, including pediatric residency, internal medicine/pediatrics residency, fellowship programs, medical students, continuing medical education, and library services.

Predictability Of Transcutaneous Bilirubinometry In Late Preterm And Term Infants At Risk For Pathological Hyperbilirubinemia., Ekaterina Dianova Md, J Fogel, R P Verma

Other Specialties

BACKGROUND: The aim was to assess the predictability of transcutaneous bilirubinometry in late preterm and term neonates at risk for pathological hyperbilirubinemia, and to identify the neonatal population in which transcutaneous bilirubin most accurately predicts serum bilirubin level (SB, mg/dl).

METHODS: The correlations between transcutaneous bilirubin (TCB, mg/dl) and SB in different neonatal population subsets; and between ΔTSB (TCB-SB) and relevant neonatal variables and clinical groups were analyzed.

RESULTS: TCB correlated with SB (r = 0.82, p < 0.05) in the cohort (n = 350) and in population subsets (r = 0.81-0.9, p < 0.001). Black infants with gestational age (GA) >35 weeks and chronological age (CA) >3 days recorded strongest correlation (r = 0.9, p < 0.001) followed by Blacks, and non-Black infants with CA >3 days and GA >35 weeks. ΔTSB was …

Family Structure And Pediatric Outcomes In Ohio, Andrew J. Berman

Scholarship in Medicine - All Papers

Objective: The number of single-parent households has been trending upwards since the early 1900s. Studies in the past have evaluated the effects single-parent households have on pediatric outcomes nationwide. This study attempts to build upon these past studies by analyzing whether these findings remain when looked at the State level, for Ohio 2020, as well as see if the percent of children in single-parent households can predict child mortality.

Methods: Data was collected from publicly available data sets through County Health Rankings. This study utilizes SPSS for data analysis. ANOVA with post-hoc was performed to compare children in single-parent household …

Outcomes In Children And Adolescents Undergoing Cholecystectomies With A High Ejection Fraction, Salony Dighamber, Karen Herzing, Arturo Aranda, Jeffrey C. Pence, Sean Barnett

Scholarship in Medicine - All Papers

Background

Cholecystectomy is commonly performed electively for symptomatic cholelithiasis and biliary hypokinesia with an ejection fraction (EF) less than 35%. Recent literature has shown that cholecystectomy in adults for biliary hyperkinesia (EF>65%) can provide resolution of symptoms (primarily pain) for the majority of patients. We seek to determine whether cholecystectomy is efficacious in the treatment of symptomatic biliary hyperkinesia in the pediatric population.

Method

The charts of over 100 patients aged 7 to 21 in the last 10 years (2008 to 2018) who had cholecystectomies were reviewed to determine ejection fraction, BMI, race, pain with CCK-HIDA, complications, and resolution …

Quantitative Eeg-Based Seizure Estimation In Super-Refractory Status Epilepticus, Saptharishi Lalgudi Ganesan, Ayham Alkhachroum, Johannes P. Koren, Julie Kromm, Nina Massad, Renz A. Reyes, Michael Miller, David Roh, Sachin Agarwal, Soojin Park, Jan Claassen

Data and Test Instruments

No abstract provided.

Thrombotic Thrombocytopenic Purpura Temporally Associated With Bnt162b2 Vaccination In An Adolescent Successfully Treated With Caplacizumab, Saptharishi Lalgudi Ganesan

Data and Test Instruments

No abstract provided.

Moyamoya Syndrome In An Infant With Aicardi-Goutières And Williams Syndromes: A Case Report, Jagraj S. Brar, Rahul Verma, Mohammed Al-Omari, Victoria M. Siu, Andrea V. Andrade, Michael T. Jurkiewicz, Saptharishi Lalgudi Ganesan

Paediatrics Publications

Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with ivy sign, suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrovascular condition …

Pannexin 1 Binds Β-Catenin To Modulate Melanoma Cell Growth And Metabolism, Samar Sayedyahossein, Kenneth Huang, Zhigang Li, Christopher Zhang, Alexandra M. Kozlov, Danielle Johnston, Daniel Nouri-Nejad, Lina Dagnino, Dean H. Betts, David B. Sacks, Silvia Penuela

Paediatrics Publications

Melanoma is the most aggressive skin malignancy with increasing incidence worldwide. Pannexin1 (PANX1), a member of the pannexin family of channel-forming glycoproteins, regulates cellular processes in melanoma cells including proliferation, migration, and invasion/metastasis. However, the mechanisms responsible for coordinating and regulating PANX1 function remain unclear. Here, we demonstrated a direct interaction between the C-terminal region of PANX1 and the N-terminal portion of β-catenin, a key transcription factor in the Wnt pathway. At the protein level, β-catenin was significantly decreased when PANX1 was either knocked down or inhibited by two PANX1 blockers, Probenecid and Spironolactone. Immunofluorescence imaging showed a disrupted pattern …

Examining How Children's Gender Influences Parents’ Perceptions Of The Local Environment And Their Influence On Children's Independent Mobility, Alina Medeiros, Andrew F. Clark, Gina Martin, Jamie A. Seabrook, Jason Gilliland

Paediatrics Publications

Physical inactivity among children is a public health concern. Children's ability to travel independently is associated with increased physical activity and social connectedness. Consequently, it is concerning that children's independent mobility has decreased in recent years. Studies have highlighted that rates of independent mobility vary by gender; this study analyzed how correlates of independent mobility vary between boys (n = 476) and girls (n = 618) attending 32 elementary schools in Southwestern Ontario. Hierarchical logistic regression modeling methods were used. All analyzes were stratified by gender. For boys, age was negatively associated with travel with peers. Having one or more …

Correlates Of Lifetime And Past Month Vape Use In A Sample Of Canadian University Students, Jamie A. Seabrook, Jasna Twynstra, Jason A. Gilliland

Paediatrics Publications

Introduction: This study examines correlates of lifetime (ie, ever vaped) and past month vape use among students aged 17 to 19 years, 20 to 25 years, and 26+ years from Western University in London, Ontario. The secondary objective is to assess lifetime and past month vape use among students not of legal age to purchase vaping products in Ontario (ie, those 17 to 18 years only). Methods: Using Qualtrics, a cross-sectional survey was sent via email to all students at Western University (N = 38 442), assessing their current and past risk-taking behaviors, mental health, sociodemographic characteristics, as well as …

The Quantity And Composition Of Household Food Waste During The Covid-19 Pandemic: A Direct Measurement Study In Canada, Haley Everitt, Paul Van Der Werf, Jamie A. Seabrook, Alexander Wray, Jason A. Gilliland

Paediatrics Publications

The COVID-19 pandemic may have amplified the environmental, social, and economic implications of household food waste. A better understanding of household food wasting during the pandemic is needed to improve the management of waste and develop best practices for municipal waste management programs under crisis circumstances. A waste composition study was undertaken with 100 single-family households across the city of London, Ontario, Canada to determine the quantity and composition of household food waste disposed in June 2020, during the first wave of the COVID-19 pandemic. This study examines how household demographic, socioeconomic, and neighbourhood food environment characteristics influence household food …

Examining How Changes In Provincial Policy On Vape Marketing Impacted The Distribution Of Vaping Advertisements Near Secondary Schools In London, Ontario, Gina Martin, Drew D. Bowman, Megan Graat, Andrew F. Clark, Alexander J. Wray, Zoe Askwith, Jamie A. Seabrook, Jason A. Gilliland

Paediatrics Publications

Objectives: On January 1, 2020, the Government of Ontario passed a regulation banning vaping advertisements by retailers, apart from specialty shops. A motivation for this ban was to limit youth exposure to vaping advertisements. The primary goal of this research was to evaluate the impact of this ban on the number and density of vaping advertisements surrounding secondary schools. Additionally, we examined whether the number of vaping advertisements varied by school socio-demographic characteristics. Methods: This study used a pre-post design. Audits were conducted December 2019 (pre-ban) and again January to February 2020 (post-ban), to identify vaping advertisements within 800 m …

Sensitivity Of Arterial Spin Labeling For Characterization Of Longitudinal Perfusion Changes In Frontotemporal Dementia And Related Disorders, Tracy Ssali, Udunna C. Anazodo, Lucas Narciso, Linshan Liu, Sarah Jesso, Lauryn Richardson, Matthias Günther, Simon Konstandin, Klaus Eickel, Frank Prato, Elizabeth Finger, Keith St. Lawrence

Paediatrics Publications

Background: Advances in the understanding of the pathophysiology of frontotemporal dementia (FTD) and related disorders, along with the development of novel candidate disease modifying treatments, have stimulated the need for tools to assess the efficacy of new therapies. While perfusion imaging by arterial spin labeling (ASL) is an attractive approach for longitudinal imaging biomarkers of neurodegeneration, sources of variability between sessions including arterial transit times (ATT) and fluctuations in resting perfusion can reduce its sensitivity. Establishing the magnitude of perfusion changes that can be reliably detected is necessary to delineate longitudinal perfusion changes related to disease processes from the effects …

In Utero Exposure To ∆9-Tetrahydrocannabinol Leads To Postnatal Catch-Up Growth And Dysmetabolism In The Adult Rat Liver, Daniel Hardy, Shelby Oke, Kendrick Lee, Rosemary Papp, Steven Laviolette

Data and Test Instruments

No abstract provided.

Exercise In Pregnancy Increases Placental Angiogenin Without Changes In Oxidative Or Endoplasmic Reticulum Stress, Daniel Hardy, Xin Mu, Katelyn Marchiori, Michelle Mottola

Data and Test Instruments

No abstract provided.

Development Of Maine Ongoing Outreach Simulation Education (Moose), A Novel Telesimulation Program, To Improve Neonatal Resuscitation In A Rural Community Hospital, Allison Zanno, Misty Melendi, Micheline Chipman, Jeffrey Holmes, Alexa Craig, Samantha Piro, Anna Gilbert, Sarah Gabrielson, Leah Mallory, Anya Culter, Mary Ottolini

Costas T. Lambrew Research Retreat 2021

Objective- To implement monthly neonatal resuscitation telesimulation team training sessions in a rural community hospital delivery room that is feasible, sustainable, and replicable at other sites.

Plasma Concentrations Of Per- And Polyfluoroalkyl Substances And Body Composition From Mid-Childhood To Early Adolescence, Jaclyn Janis, Sheryl Rifas-Shiman, Shravanthi M. Seshasayee, Clifford J Rosen, Abby F Fleisch, Sharon Sagiv, Emily Oken

Costas T. Lambrew Research Retreat 2021

BACKGROUND

• Per- and polyfluoroalkyl substances (PFAS) may alter body composition by lowering anabolic hormones and increasing inflammation.

Prior studies have found positive, inverse, and null associations of PFAS concentrations with adiposity among children and adolescents.

Few studies have examined associations of PFAS concentrations with changes in body composition longitudinally.

No study has examined the association of PFAS plasma concentrations with lean mass.

Simulation-Based Training In The Paediatric Surgery Population: A Review Of Current Trends And Future Direction, Areej Saleem, Zorays Moazzam, Sohail Asghar Dogar, Saqib Hamid Qazi

Section of Paediatric Surgery

In recent years, simulation-based training in surgery has emerged as a viable accompaniment to traditional teaching methods. Multiple studies have highlighted the benefits of simulation-based training in both learning and teaching aspects of surgical training, with a particular emphasis on the honing of technical skills. However, multiple issues still exist in widespread implementation of simulation-based training, especially in the developing countries. Furthermore, the existing literature needs to be expanded upon in both quantity and quality domains to ensure a more evidence-based transition to simulation-based training in surgery. The current review article was planned to take a look at the existing …

Transitioning From Foster Care To Adulthood: Supporting Adolescents And Young Adults, The Rees-Jones Center For Foster Care Excellence

White Papers and Policy Briefs

Children involved in foster care have significant trauma histories and have often experienced substantial neglect and/or abuse. Such adverse childhood experiences can lead to cumulative toxic stress, which if not buffered by support and a consistent adult caregiver, can negatively impact physical, mental and socio-emotional development. Such experiences can also result in a lack of trust in adults and systems of care, which can further reduce sources of support for children in foster care.

For questions about this publication or others, please email [email protected]

childrens.com/fostercare

Teleneurology Based Management Of Infantile Spasms During Covid-19 Pandemic: A Consensus Report By The South Asia Allied West Syndrome Research Group, Priyanka Madaan, Jitendra Kumar Sahu, Jithangi Wanigasinghe, Kanij Fatema, Kyaw Linn, Mimi Lhamu Mynak, Nicolás Garófalo Gómez, Pauline Samia, Prakash Poudel, Prem Chand

Paediatrics and Child Health, East Africa

With telehealth services rescuing patients with chronic neurological disorders during the COVID-19 pandemic, there is a felt need for simplified teleneurology protocols for neurological disorders in children. Infantile spasms is an epileptic encephalopathy where treatment lag is a significant predictor of outcome. It is one such condition where telemedicine can make a remarkable difference when in-person consultations are delayed or are not possible. However, the adverse effect profile of the first-line therapeutic options, the need for frequent follow-up, underdeveloped telemedicine services, lack of a rational protocol, poor awareness about infantile spasms, a lesser level of parental understanding, and scarcity of …

The Effects Of Combined Transcranial Brain Stimulation And A 4-Week Visuomotor Stepping Training On Voluntary Step Initiation In Persons With Chronic Stroke-A Pilot Study, Ira H Gewolb, Babatunde T Sobowale, Frank L Vice, Abhijit Patwardhan, Nino Solomonia, Eric W Reynolds

Faculty, Staff and Student Publications

Background: Suck-swallow rhythmicity and the integration of breathing into infant feeding are developmentally regulated. Neurological injury and breathing abnormalities can both impact feeding in preterm infants.

Objective: To determine the effects of neurologic injury independent of effects of disordered breathing on feeding biorhythms in premature infants.

Methods: Low-risk preterm infants (LRP), infants with Grade 3–4 Intraventricular Hemorrhage (IVH), those with bronchopulmonary dysplasia (BPD), and those with both BPD and IVH (BPD+IVH) were identified. Forty-seven infants, 32–42 weeks Postmenstrual Age (PMA) were evaluated on one or more occasions (131 studies). Of these, 39 infants (81 studies) were performed at >35 weeks …

Time Trends Of Overweight And Obesity Among Schoolchildren In Kuwait Over A 13-Year Period (2007-2019): Repeated Cross-Sectional Study, Abdullah Al-Taiar, Nawal Alqaoud, Ali H. Ziyab, Faheema Alanezi, Monica Subhakaran, Reem Sharaf Alddin, Hueiwang Anna Jeng, Muge Akpinar-Elci

Community & Environmental Health Faculty Publications

Objectives: This study aimed to examine age-specific trends in the prevalence of overweight and obesity in schoolchildren in Kuwait over a 13-year period (2007 to 2019) using the World Health Organization (WHO), the Centers for Disease Control and Prevention (CDC) and the International Obesity Taskforce (IOTF) definitions.

Design: Using cross-sectional approach, Kuwait Nutrition Surveillance System (KNSS) objectively measured weight and height of schoolchildren over a 13-year period. Log-binomial regression models were used to examine age-specific trends of obesity and overweight over the study period.

Setting: Public primary, middle, and high schools in all provinces of Kuwait.

Participants: Schoolchildren aged 5-19 …

Association Of In‐Line Digestive Enzyme Cartridge With Enteral Feeds On Improvement In Anthropometrics Among Pediatric Patients With Cystic Fibrosis, Karyn Shaw, Stacie Hunter, Minjae Lee, Meghana Sathe

2021

No abstract provided.