Pediatrics Commons^™

The Role Of Rassf5 On Cell Growth And Hippo Signaling In Rhabdomyosarcoma, Megan Garver, Lee Helman, Md, Katrina Slemmons, Phd

Phase 1

Introduction: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. Dysregulation of the Hippo pathway, a signaling cascade that regulates many biological processes, is associated with many human cancers. The goal of my project was to delete RASSF5, a regulator of the Hippo pathway, in RMS cells utilizing CRISPR/Cas9 and then to evaluate how the absence of RASSF5 affects RMS cell growth and Hippo signaling, with and without DNMTi Tx.

Methods: A lipofectamine transfection was performed in two different RMS cell lines, Rh30 & RD, in which two different CRIPSR/Cas9 vectors with RASSF5 guide RNA were introduced. …

Graduate Medical Education Annual Report 2019-2020, 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.

Growth Hormone Deficiency In Megalencephaly-Capillary Malformation Syndrome: An Association With Activating Mutations In Pik3ca, Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Grand, Adda Grimberg, Stephanie Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L Mckinnon, Ghayda Mirzaa

Paediatrics Publications

Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth hormone (GH) deficiency. Here we report an observational multicenter study of children with MCAP and GH deficiency. Eleven participants were confirmed to have GH deficiency, all with very low or undetectable circulating concentrations of insulin-like growth factor-1 and insulin-like growth factor binding protein-3. Seven underwent GH stimulation testing and all had …

The Pancreas-Specific Form Of Secretory Pathway Calcium Atpase 2 Regulates Multiple Pathways Involved In Calcium Homeostasis, Melissa Fenech, Mckenzie M Carter, Peter B Stathopulos, Christopher Pin

Paediatrics Publications

Acinar cell exocytosis requires spatiotemporal Ca²⁺ signals regulated through endoplasmic reticulum (ER) stores, Ca²⁺ATPases, and store-operated Ca²⁺ entry (SOCE). The secretory pathway Ca²⁺ATPase 2 (SPCA2) interacts with Orai1, which is involved in SOCE and store independent Ca²⁺ entry (SICE). However, in the pancreas, only a C-terminally truncated form of SPCA2 (termed SPAC2C) exists. The goal of this study was to determine if SPCA2C effects Ca²⁺ homeostasis in a similar fashion to the full-length SPCA2. Using epitope-tagged SPCA2C (SPCA2C^FLAG) expressed in HEK293A cells and Fura2 imaging, cytosolic [Ca²⁺] was …

Intranasal Dexmedetomidine For Procedural Distress In Children: A Systematic Review., Naveen Poonai, Joseph Spohn, Ben Vandermeer, Samina Ali, Maala Bhatt, Shawn Hendrikx, Evelyne D Trottier, Vikram Sabhaney, Amit Shah, Gary Joubert, Lisa Hartling

Paediatrics Publications

CONTEXT: Intranasal dexmedetomidine (IND) is an emerging agent for procedural distress in children.

OBJECTIVE: To explore the effectiveness of IND for procedural distress in children.

DATA SOURCES: We performed electronic searches of Medline (1946-2019), Embase (1980-2019), Google Scholar (2019), Cumulative Index to Nursing and Allied Health Literature (1981-2019), and Cochrane Central Register.

STUDY SELECTION: We included randomized trials of IND for procedures in children.

DATA EXTRACTION: Methodologic quality of evidence was evaluated by using the Cochrane Collaboration's risk of bias tool and the Grading of Recommendations Assessment, Development, and Evaluation system, respectively. The primary outcome was the proportion of participants …

Brain Metabolite Levels In Sedentary Women And Non-Contact Athletes Differ From Contact Athletes., Amy L Schranz, Gregory A Dekaban, Lisa Fischer, Kevin Blackney, Christy Barreira, Timothy J Doherty, Douglas Fraser Md, Phd, Frcpc, Arthur Brown, Jeff Holmes, Ravi S Menon, Robert Bartha

Paediatrics Publications

White matter tracts are known to be susceptible to injury following concussion. The objective of this study was to determine whether contact play in sport could alter white matter metabolite levels in female varsity athletes independent of changes induced by long-term exercise. Metabolite levels were measured by single voxel proton magnetic resonance spectroscopy (MRS) in the prefrontal white matter at the beginning (In-Season) and end (Off-Season) of season in contact (

Mtorc1 Transcriptional Regulation Of Ribosome Subunits, Protein Synthesis, And Molecular Transport In Primary Human Trophoblast Cells., Fredrick J Rosario, Theresa L Powell, Madhulika B Gupta, Laura Cox, Thomas Jansson

Paediatrics Publications

Mechanistic Target of Rapamycin Complex 1 (mTORC1) serves as positive regulator of placental nutrient transport and mitochondrial respiration. The role of mTORC1 signaling in modulating other placental functions is largely unexplored. We used gene array following silencing of raptor to identify genes regulated by mTORC1 in primary human trophoblast (PHT) cells. Seven hundred and thirty-nine genes were differentially expressed; 487 genes were down-regulated and 252 up-regulated. Bioinformatic analyses demonstrated that inhibition of mTORC1 resulted in decreased expression of genes encoding ribosomal proteins in the 60S and 40S ribosome subunits. Furthermore, down-regulated genes were functionally enriched in genes involved in eIF2, …

The Cost-Utility Of Measles-Mumps-Rubella Immunization Strategies During A Mumps Outbreak, Kikanwa Anyiwe, David Naimark, Oliver Baclic, Vinita Dubey, Marina Salvadori, Man Wah Yeung, Matthew Tunis, Beate Sander

Paediatrics Publications

No abstract provided.

Improving Access And Mental Health For Youth Through Virtual Models Of Care, Cheryl Forchuk, Sandra Fisman, Jeffrey P. Reiss, Kerry Collins, Julie Eichstedt, Abraham Rudnick, Wanrudee Isaranuwatchai, Jeffrey S. Hoch, Xianbin Wang, Daniel Lizotte, Shona Macpherson, Richard Booth

Paediatrics Publications

The overall objective of this research is to evaluate the use of a mobile health smartphone application (app) to improve the mental health of youth between the ages of 14–25 years, with symptoms of anxiety/depression. This project includes 115 youth who are accessing outpatient mental health services at one of three hospitals and two community agencies. The youth and care providers are using eHealth technology to enhance care. The technology uses mobile questionnaires to help promote self-assessment and track changes to support the plan of care. The technology also allows secure virtual treatment visits that youth can participate in through …

Nox2 Is Critical To Endocardial To Mesenchymal Transition And Heart Development, Hoda Moazzen, Yan Wu, Anish Engineer, Xiangru Lu, Simran Aulakh, Qingping Feng

Paediatrics Publications

NADPH oxidases (NOX) are a major source of reactive oxygen species (ROS) production in the heart. ROS signaling regulates gene expression, cell proliferation, apoptosis, and migration. However, the role of NOX2 in embryonic heart development remains elusive. We hypothesized that deficiency of Nox2 disrupts endocardial to mesenchymal transition (EndMT) and results in congenital septal and valvular defects. Our data show that 34% of Nox2-/- neonatal mice had various congenital heart defects (CHDs) including atrial septal defects (ASD), ventricular septal defects (VSD), atrioventricular canal defects (AVCD), and malformation of atrioventricular and aortic valves. Notably, Nox2-/- embryonic hearts show abnormal development of …

Estimation Of Gfr In Patients With Cystic Fibrosis: A Cross-Sectional Study, Andrea Wallace, April Price, Erin Fleischer, Michael Khoury, Guido Filler

Paediatrics Publications

Background: Patients with cystic fibrosis (CF) have frequent infectious complications requiring nephrotoxic medications, necessitating monitoring of renal function. Although adult studies have suggested that cystatin C (CysC)-based estimated glomerular filtration rate (eGFR) may be preferable due to reduced muscle mass of patients with CF, pediatric patients remain understudied. Objective: Our objective was to determine which eGFR formula is best for estimating glomerular filtration rate (GFR) in pediatric patients with CF. Methods: A total of 17 patients with CF treated with nephrotoxic antibiotics were recruited from the Children’s Hospital at London Health Sciences Centre, London, Ontario, Canada. 99Tc DTPA GFR (measured …

Presence Of Benznidazole Conjugated Metabolites In Urine Identified By Β-Glucuronidase Treatment, María Elena Marson, Facundo García Bournissen, Jaime Altcheh, Guillermo Moscatelli, Samantha Moroni, Guido Enrique Mastrantonio

Paediatrics Publications

Chagas disease is a serious public health problem in Latin America and, due to migration, in other non-endemic regions. Benznidazole (BNZ) is first choice drug in pediatric therapeutics. However, little is known regarding its metabolism in humans. The aim of the study was to isolate and identify products of human BZN metabolism in urine samples obtained from a pediatric Chagas patient and a healthy adult volunteer both treated with BZN. Urine samples were collected after dose of BNZ. Urine was treated with β-glucuronidase followed by an extraction procedure under two different pH conditions and a HPLC/UV and MS/MS identification of …

Composite Outcomes For Clinical Trials In Critical Care: The Devil Is In The Detail, Saptharishi Lalgudi Ganesan, Narayanan Parameswaran

Data and Test Instruments

No abstract provided.

Office Of Equity Diversity Report Annual Report Fy2020, Children's Mercy Hospital

Equity & Diversity Annual Reports

A report on equity and diversity at Children's Mercy Hospitals & Clinics, in the care it provides, the people it serves, and in its workforce. Specifically discusses the Equity & Diversity Leadership Structure, Employee Demographics, Patient Demographics, lasting impressions from FY20, and the future of healthcare providers.

Evaluation For Association Between Maternal Microbiota And Development Of Necrotizing Enterocolitis Or Gram-Negative Bacteremia In Preterm Infants, Mei Chi Quek

Master of Medicine in Paediatrics and Child Health

Background: Preterm birth is the leading cause of perinatal morbidity and mortality worldwide. There is a need for a better understanding of the correlation of vaginal microbiota with adverse preterm outcomes. Our study aimed to explore how the vaginal microbiota influences the outcome of the preterm infants, determine whether fecal microbiota in premature infants differs from that in term infants, and explore the microbiota pattern in preterm neonates who received multiple antibiotics. Method: A prospective cohort design was used to enroll 33 women admitted in spontaneous labor between 25 to 36 weeks, and 33 controls matched for age and parity …

Creating A Noise-Reducing, Wearable Intervention For Newborns In The Nicu, Mohammad Rasool, Alexandra A. Mccullough, Alison Romisher, Robert S. Pugliese, Pharmd, Bcps, Bon Ku, Md, Mpp

Phase 1

Background: Excessive auditory stimulation can have negative effects on the growth and development of newborn babies. The American Academy of Pediatrics states that newborns should not be exposed to sounds in excess of 45dB while they are in the hospital, however noise levels in NICUs across the country are often between 50-100dB. A design project was conducted to develop an intervention that could reduce infant exposure to excessive noise.

Methods: Neonatologists, nurses, audiologists, music therapists, sound designers, soft materials experts, and medical device designers were interviewed and consulted throughout the design process. A 24-hour sound recording using a REED-SD-4023 meter …

Caring For Children In Child Welfare Systems: A Trauma-Informed Model Of Integrated Primary Care, Jill Mcleigh, Laura Lamminen, Heidi Roman

Integrated, Trauma-Informed Care

Children involved with the child welfare system have high rates of behavioral health concerns, chronic health conditions, and developmental disabilities. Further, as a result of the complicated relationships among the court system, child protective services, and caregivers (i.e., biological, kinship, and/or foster caregivers) and the high volume of health-, behavior-, and development-related services children in care need, the services they receive tend to be fragmented and problem driven. On top of these challenges, children involved with the child welfare system have been exposed to trauma, and often more than one form of trauma. Taken together, these factors point to the …

Fit Clinical Decision-Making: Brain Abscess In A Nonfenestrated Fontan Patient, Bethany Runkel, Natalie Shwaish, Geetha Raghuveer, William Drake

Posters

No abstract provided.

Fit Clinical Decision-Making: Isolated Polymorphic Ventricular Tachycardia In A Pediatric Patient: An Unusual Presentation Of Acute Mycocarditis, Natalie S. Shwaish, Bethany Runkel, Lindsey Malloy-Walton

Posters

No abstract provided.

Sound Dampening Headband For Infants, Alexandra A. Mccullough, Mohammad Rasool, Alison Romisher, Robert S. Pugliese, Pharmd, Bcps, Bon Ku, Md, Mpp

Phase 1

Background: Noise in the Intensive Care Nursery (ICN) has been linked to sleep disruption, vital sign destabilization, abnormal development, and stress response induction in infants. Specifically, a sound level ≥60 decibels (dB) was linked to sleep disruption in infants, and the American Academy of Pediatrics (AAP) set a maximum recommended sound level of 45dB in ICNs. The present work was conducted to confirm that the Jefferson ICN exceeds the 60dB and 45dB levels, like most hospitals do, and to conduct preliminary testing on materials for a wearable intervention to reduce infants’ exposure to noise.

Methods: A group of …

Serum 25-Hydroxyvitamin D Levels In Children With Mild And Severe Atopic Asthma, Rhoda Ndinda Masaku

Master of Medicine in Paediatrics and Child Health

Background: Asthma is a chronic respiratory illness affecting an estimated 334 million people worldwide, including 14% of the total pediatric population. It results in significant morbidity, and therefore the etiologies and risk factors associated with asthma are of great interest. Serum 25- hydroxyvitamin D (25(OH)D) has substantial immunomodulatory effects on the innate immune system. It reduces the probability of viral respiratory infections and asthma exacerbations by potentiating the anti-inflammatory action of corticosteroids. Objectives: This study was conducted to determine if there was a difference in serum 25-hydroxyvitamin D levels between children with mild and severe atopic asthma and explored the …

Fmic Annual Report 2020 | Pashto (پشتو), French Medical Institute For Mothers And Children

French Medical Institute for Mothers and Children (FMIC) Archives

No abstract provided.

Fmic Annual Report 2020 | English, French Medical Institute For Mothers And Children

French Medical Institute for Mothers and Children (FMIC) Archives

No abstract provided.

Fmic Annual Report 2020 | Dari (دری), French Medical Institute For Mothers And Children

French Medical Institute for Mothers and Children (FMIC) Archives

No abstract provided.

Development Of Vaccine Preferences In Parents Of Newborns, Ramon Ruiz, Neera Goyal

Phase 1

Introduction: The resurgence in cases of vaccine-preventable childhood diseases in the U.S. may be associated with increasing rates of vaccine hesitancy. Although previous research has sought to identify attributes of non-vaccinating parents, the timing in which parents make such vaccination decisions has yet to be explored. Our goal is to identify when first-time parents develop their vaccination preferences: before, after, or during pregnancy.

Methods: A cross sectional survey was conducted using a convenience sample of 73 first time parents at Thomas Jefferson University Hospital. Survey questions addressed timing of vaccination decisions and projected compliance with vaccine schedules. Eligibility for …

Glycogen Storage Diseases-Time To Flip The Outdated Diagnostic Approach Centered On Liver Biopsy With The Molecular Testing, Sibtain Ahmed, Bushra Afroze

Department of Pathology and Laboratory Medicine

The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are neither cost effective nor convenient. Molecular (gene testing) has emerged over the course of past few years as a robust alternative diagnostic tool, which not only confirms the diagnosis of GSDs but also clearly differentiates the types of GSDs allowing the initiation of the type-specific appropriate treatment for the particular type of GSDs. The …

A Qualitative Study On Adequate Sleep In Preschool Children – Can We Sleep On It?, Seema Zainulabdin Lasi, Noreen Afzal, Somal Kayani

Human Development Programme

Sleep is a significant marker of physical and psychological health. The present research was undertaken to explore perceptions of parents, teachers and pediatricians about preschool children’s sleep patterns, habits, and problems from urban Karachi, Pakistan. A qualitative research approach was employed; data collection methods were Focus Group Discussion (FGDs) and Key Informant Interviews (KIIs). The themes identified were children’s sleep patterns, sleep environment, sleep rituals, distractions, sleep problems, the impact of inadequate sleep, and recommendations to improve. Emergent themes were inconsistency of rules from parents, lack of opportunities for outdoor physical activity, different kinds of stresses, social and cultural events …

Impact Of Nicu Design On Feeding-Related Outcomes In Preterm Infants, Emma Kate Calvert

Theses and Dissertations--Communication Sciences and Disorders

Many NICUs around the country are moving away from traditional open-bay designs in favor of single-family rooms (SFRs) as more is understood about the impact of the sensory environment on neurodevelopment in preterm infants. SFRs house one infant and their family for the length of the infant’s stay and are associated with improvements in numerous outcomes, including increased milk intake and weight gain and earlier transition to enteral feeding. Oral feeding remains a critical requirement for NICU discharge; however, the impact of NICU design on feeding outcomes remains unknown.

The purpose of this study was to compare feeding outcomes between …

Two Months Of Global Health In Maseru, Lesotho, Rachel Hildebrand

Posters

Describes her experience working with infants and children at the Center of Excellence and Adolescents at Queen Mamohato Memorial Hospital in Maseru, Lesotho.

Global Health Immersive Elective In The Philippines, Lisa Godfrey

Posters

Describes her experiences working at Fabella Memorial NICU and the Philippines General Hospital.