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Children's Mercy Kansas City

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Full-Text Articles in Medical Specialties

Policies And Practices Of Shea Research Network Hospitals During The Covid-19 Pandemic., Michael S. Calderwood, Valerie M. Deloney, Deverick J. Anderson, Vincent Chi-Chung Cheng, Shruti Gohil, Jennie H. Kwon, Lona Mody, Elizabeth Monsees, Valerie M. Vaughn, Timothy L. Wiemken, Matthew J. Ziegler, Eric Lofgren Oct 2020

Policies And Practices Of Shea Research Network Hospitals During The Covid-19 Pandemic., Michael S. Calderwood, Valerie M. Deloney, Deverick J. Anderson, Vincent Chi-Chung Cheng, Shruti Gohil, Jennie H. Kwon, Lona Mody, Elizabeth Monsees, Valerie M. Vaughn, Timothy L. Wiemken, Matthew J. Ziegler, Eric Lofgren

Manuscripts, Articles, Book Chapters and Other Papers

To understand hospital policies and practices as the COVID-19 pandemic accelerated, the Society for Healthcare Epidemiology of America (SHEA) conducted a survey through the SHEA Research Network (SRN). The survey assessed policies and practices around the optimization of personal protection equipment (PPE), testing, healthcare personnel policies, visitors of COVID-19 patients in relation to procedures, and types of patients. Overall, 69 individual healthcare facilities responded in the United States and internationally, for a 73% response rate.


Ontogeny Related Changes In The Pediatric Liver Metabolome., Christopher M. Wilson, Qian Li, R Gaedigk, Chengpeng Bi, Saskia N. De Wildt, J Steven Leeder, Brooke L. Fridley Sep 2020

Ontogeny Related Changes In The Pediatric Liver Metabolome., Christopher M. Wilson, Qian Li, R Gaedigk, Chengpeng Bi, Saskia N. De Wildt, J Steven Leeder, Brooke L. Fridley

Manuscripts, Articles, Book Chapters and Other Papers

Background: A major challenge in implementing personalized medicine in pediatrics is identifying appropriate drug dosages for children. The majority of drug dosing studies have been based on adult populations, often with modification of the dosing for children based on size and weight. However, the growth and development experienced by children between birth and adulthood represents a dynamically changing biological system, with implications for effective drug dosing, efficacy as well as potential drug toxicity. The purpose of this study was to apply a metabolomics approach to gain preliminary insights into the ontogeny of liver function from newborn to adolescent.

Methods: Metabolites …


Differences In Adolescent Activity And Dietary Behaviors Across Home, School, And Other Locations Warrant Location-Specific Intervention Approaches., Adrian Ortega, Carolina M. Bejarano, Christopher C. Cushing, Vincent S. Staggs, Amy Papa, Chelsea Steel, Robin P. Shook, Debra K. Sullivan, Sarah C. Couch, Terry L. Conway, Brian E. Saelens, Karen Glanz, Lawrence D. Frank, Kelli L. Cain, Jacqueline Kerr, Jasper Schipperijn, James F Sallis, Jordan A. Carlson Sep 2020

Differences In Adolescent Activity And Dietary Behaviors Across Home, School, And Other Locations Warrant Location-Specific Intervention Approaches., Adrian Ortega, Carolina M. Bejarano, Christopher C. Cushing, Vincent S. Staggs, Amy Papa, Chelsea Steel, Robin P. Shook, Debra K. Sullivan, Sarah C. Couch, Terry L. Conway, Brian E. Saelens, Karen Glanz, Lawrence D. Frank, Kelli L. Cain, Jacqueline Kerr, Jasper Schipperijn, James F Sallis, Jordan A. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Investigation of physical activity and dietary behaviors across locations can inform "setting-specific" health behavior interventions and improve understanding of contextual vulnerabilities to poor health. This study examined how physical activity, sedentary time, and dietary behaviors differed across home, school, and other locations in young adolescents.

METHODS: Participants were adolescents aged 12-16 years from the Baltimore-Washington, DC and the Seattle areas from a larger cross-sectional study. Participants (n = 472) wore an accelerometer and Global Positioning Systems (GPS) tracker (Mean days = 5.12, SD = 1.62) to collect location-based physical activity and sedentary data. Participants (n = 789) completed 24-h …


Etv6 Germline Mutations Cause Hdac3/Ncor2 Mislocalization And Upregulation Of Interferon Response Genes., Marlie H. Fisher, Gregory D. Kirkpatrick, Brett Stevens, Courtney Jones, Michael Callaghan, Madhvi Rajpurkar, Joy M. Fulbright, Megan A. Cooper, Jesse Rowley, Christopher C. Porter, Arthur Gutierrez-Hartmann, Kenneth Jones, Craig Jordan, Eric M. Pietras, Jorge Di Paola Sep 2020

Etv6 Germline Mutations Cause Hdac3/Ncor2 Mislocalization And Upregulation Of Interferon Response Genes., Marlie H. Fisher, Gregory D. Kirkpatrick, Brett Stevens, Courtney Jones, Michael Callaghan, Madhvi Rajpurkar, Joy M. Fulbright, Megan A. Cooper, Jesse Rowley, Christopher C. Porter, Arthur Gutierrez-Hartmann, Kenneth Jones, Craig Jordan, Eric M. Pietras, Jorge Di Paola

Manuscripts, Articles, Book Chapters and Other Papers

ETV6 is an ETS family transcription factor that plays a key role in hematopoiesis and megakaryocyte development. Our group and others have identified germline mutations in ETV6 resulting in autosomal dominant thrombocytopenia and predisposition to malignancy; however, molecular mechanisms defining the role of ETV6 in megakaryocyte development have not been well established. Using a combination of molecular, biochemical, and sequencing approaches in patient-derived PBMCs, we demonstrate abnormal cytoplasmic localization of ETV6 and the HDAC3/NCOR2 repressor complex that led to overexpression of HDAC3-regulated interferon response genes. This transcriptional dysregulation was also reflected in patient-derived platelet transcripts and drove aberrant proplatelet formation …


Esophageal, Gastric, And Duodenal Histologic Findings In Patients With Feeding Difficulties., Jensen Edwards, Craig A. Friesen, Amy Issa, Sarah T. Edwards Sep 2020

Esophageal, Gastric, And Duodenal Histologic Findings In Patients With Feeding Difficulties., Jensen Edwards, Craig A. Friesen, Amy Issa, Sarah T. Edwards

Manuscripts, Articles, Book Chapters and Other Papers

Currently, there are inconsistencies in the recommendations of when to obtain an esophagogastroduodenoscopy (EGD) in children with feeding difficulties. The aim of our study was to identify EGD findings in patients presenting to a large, outpatient feeding program. Additionally, we investigated the presence of any relationship between abnormal pathology seen on biopsies (inflammation) and symptoms of feeding intolerance such as vomiting, gagging, retching, or abdominal pain. Retrospective analysis of electronic medical records (EMRs) was conducted for all new patients aged 0-17 years presenting to the Multidisciplinary Feeding Clinic. Three hundred and thirty patients (50.2%) had an EGD with complete biopsies. …


Beyond Clinical Food Prescriptions And Mobile Markets: Parent Views On The Role Of A Healthcare Institution In Increasing Healthy Eating In Food Insecure Families., Emily Dewit, Emily Meissen-Sebelius, Robin P. Shook, Kimberly Pina, Evelyn Donis De Miranda, Michelle J. Summar, Emily A. Hurley Sep 2020

Beyond Clinical Food Prescriptions And Mobile Markets: Parent Views On The Role Of A Healthcare Institution In Increasing Healthy Eating In Food Insecure Families., Emily Dewit, Emily Meissen-Sebelius, Robin P. Shook, Kimberly Pina, Evelyn Donis De Miranda, Michelle J. Summar, Emily A. Hurley

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Children in food-insecure families face increased barriers to meeting recommendations for fruit and vegetable consumption. Hospitals and pediatric healthcare institutions have attempted to alleviate food-insecurity through various internal programs like food prescriptions, yet little evidence for these programs exist. Consistent with a patient-centered perspective, we sought to develop a comprehensive understanding of barriers to fruit and vegetable consumption and a parent-driven agenda for healthcare system action.

METHODS: We conducted six qualitative focus group discussions (four in English, two in Spanish) with 29 parents and caregivers of patients who had screened positive for food-insecurity during visits to a large pediatric …


Perinatal Palliative Care Birth Planning As Advance Care Planning., Donnamaria E. Cortezzo, Kelstan Ellis, Amy Schlegel Sep 2020

Perinatal Palliative Care Birth Planning As Advance Care Planning., Donnamaria E. Cortezzo, Kelstan Ellis, Amy Schlegel

Manuscripts, Articles, Book Chapters and Other Papers

Purpose of Review: A significant number of pregnancies are complicated by a fetus with a life-limiting diagnosis. As diagnoses are made earlier in the pregnancy, families experience anticipatory grief and are faced with navigating goals of care for a baby that has yet to be born. With the support of the care team, families can begin to grieve, plan, and make meaningful memories during the duration of the pregnancy, the birth of their baby, and life of the child. Creating a palliative care birth plan, which expands beyond the traditional concept for delivery planning to include prenatal, perinatal, and neonatal …


Prosthetic Temporomandibular Joint Reconstruction In A Cohort Of Adolescent Females With Juvenile Idiopathic Arthritis., Michael Lypka, Karina Shah, Jordan T. Jones Sep 2020

Prosthetic Temporomandibular Joint Reconstruction In A Cohort Of Adolescent Females With Juvenile Idiopathic Arthritis., Michael Lypka, Karina Shah, Jordan T. Jones

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injections (IASI) and systemic immunosuppressive therapy. Despite aggressive medical therapy, some patients develop arthritic changes and frank TMJ ankylosis that can result in persistent pain and limitation in range of motion (ROM). A surgical option is prosthetic TMJ replacement with concurrent correction of dentofacial deformities, which can be performed simultaneously. The objective of this study was to evaluate the outcomes of prosthetic TMJ replacement in a cohort of adolescent females with JIA and severe TMJ involvement. …


Cinacalcet Studies In Pediatric Subjects With Secondary Hyperparathyroidism Receiving Dialysis., Bradley A. Warady, Eric Ng, Laura Bloss, May Mo, Franz Schaefer, Justine Bacchetta Sep 2020

Cinacalcet Studies In Pediatric Subjects With Secondary Hyperparathyroidism Receiving Dialysis., Bradley A. Warady, Eric Ng, Laura Bloss, May Mo, Franz Schaefer, Justine Bacchetta

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Secondary hyperparathyroidism (sHPT), a complication of chronic kidney disease (CKD) characterized by persistently elevated parathyroid hormone (PTH), alterations in calcium-phosphorus homeostasis, and vitamin D metabolism, affects 50% of children receiving dialysis. A significant proportion of these children develop CKD-mineral and bone disorder (CKD-MBD), associated with an increased risk of fractures and vascular calcification. The standard of care for sHPT in children includes vitamin D sterols, calcium supplementation, and phosphate binders. Several agents are approved for sHPT treatment in adults undergoing dialysis, including vitamin D analogs and calcimimetics, with limited information on their safety and efficacy in children. The calcimimetic …


The Slc25a42 Transcript Is A Biomarker For Fetal Reprogramming In Response To Placental Insufficiency In Preterm Newborns Under 32 Weeks Gestation-A Pilot Study., Fu-Sheng Chou, Pei-Shan Wang Aug 2020

The Slc25a42 Transcript Is A Biomarker For Fetal Reprogramming In Response To Placental Insufficiency In Preterm Newborns Under 32 Weeks Gestation-A Pilot Study., Fu-Sheng Chou, Pei-Shan Wang

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: Timing of medical delivery of preterm newborns exposed to placental insufficiency is largely determined by umbilical artery blood flow and maternal clinical manifestations. There is a lack of tools to properly assess fetal body response to placental insufficiency before or upon delivery. Yet, short- and long-term comorbidities associated with placental insufficiency and the consequential intrauterine growth restriction may be a result of fetal response following prolonged stress. This study aims to establish a procedure to investigate fetal/neonatal transcriptional response to placental insufficiency as part of an initiative to identify cost-effective biomarkers for assessing fetal response to placental insufficiency.

Methods: …


Reducing Emotional Distress For Childhood Hypoglycemia In Parents (Redchip): Protocol For A Randomized Clinical Trial To Test A Video-Based Telehealth Intervention., Susana R. Patton, Andrew Mcconville, Arwen M. Marker, Alexandra D. Monzon, Kimberly A A. Driscoll, Mark A. Clements Aug 2020

Reducing Emotional Distress For Childhood Hypoglycemia In Parents (Redchip): Protocol For A Randomized Clinical Trial To Test A Video-Based Telehealth Intervention., Susana R. Patton, Andrew Mcconville, Arwen M. Marker, Alexandra D. Monzon, Kimberly A A. Driscoll, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite the introduction of new insulin analogs, insulin pumps, and continuous glucose monitoring (CGM), young children with type 1 diabetes mellitus (T1D) remain vulnerable to episodes of hypoglycemia because of their unpredictable eating and activity patterns and high degree of insulin sensitivity. Caregivers and young children living with T1D learn to fear hypoglycemia because it is uncomfortable, unpredictable, and dangerous. Up to 60% of caregivers of young children with T1D report moderate to severe levels of fear of hypoglycemia, and caregiver fear of hypoglycemia relates to lower quality of life for families and suboptimal child glycemic control. Yet, until …


Interstage Home Monitoring For Infants With Single Ventricle Heart Disease: Education And Management: A Scientific Statement From The American Heart Association., Nancy A. Rudd, Nancy S. Ghanayem, Garick D. Hill, Linda M. Lambert, Kathleen A. Mussatto, Jo Ann Nieves, Sarah Robinson, Girish S. Shirali, Michelle M. Steltzer, Karen Uzark, Nancy A. Pike, American Heart Association Council On Cardiovascular And Stroke Nursing; Council On Lifelong Congenital Heart Disease And Heart Health In The Young; Council On Arteriosclerosis, Thrombosis And Vascular Biology; Council On Clinical Cardiology; And Council On Lifestyle And Cardiometabolic Health Aug 2020

Interstage Home Monitoring For Infants With Single Ventricle Heart Disease: Education And Management: A Scientific Statement From The American Heart Association., Nancy A. Rudd, Nancy S. Ghanayem, Garick D. Hill, Linda M. Lambert, Kathleen A. Mussatto, Jo Ann Nieves, Sarah Robinson, Girish S. Shirali, Michelle M. Steltzer, Karen Uzark, Nancy A. Pike, American Heart Association Council On Cardiovascular And Stroke Nursing; Council On Lifelong Congenital Heart Disease And Heart Health In The Young; Council On Arteriosclerosis, Thrombosis And Vascular Biology; Council On Clinical Cardiology; And Council On Lifestyle And Cardiometabolic Health

Manuscripts, Articles, Book Chapters and Other Papers

This scientific statement summarizes the current state of knowledge related to interstage home monitoring for infants with shunt-dependent single ventricle heart disease. Historically, the interstage period has been defined as the time of discharge from the initial palliative procedure to the time of second stage palliation. High mortality rates during the interstage period led to the implementation of in-home surveillance strategies to detect physiologic changes that may precede hemodynamic decompensation in interstage infants with single ventricle heart disease. Adoption of interstage home monitoring practices has been associated with significantly improved morbidity and mortality. This statement will review in-hospital readiness for …


Pediatric Sjs-Ten: Where Are We Now?, Michele Ramien, Jennifer Goldman Aug 2020

Pediatric Sjs-Ten: Where Are We Now?, Michele Ramien, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

Stevens-Johnson syndrome and toxic epidermal necrolysis are rare severe blistering skin reactions triggered by medications or infections. Over the last 5 to 10 years, a number of important publications have advanced understanding of these diseases and their response to treatment. Importantly, a subset of patients with disease triggered by infection has been identified as having Mycoplasma pneumoniae-induced rash and mucositis, suggesting a reconsideration of the diagnostic paradigm. We present an update on pediatric Stevens-Johnson syndrome and toxic epidermal necrolysis in the broader context of cutaneous adverse drug reactions and focus on challenges and recent advances in diagnosis, management, and prevention.


Alport Syndrome Classification And Management., Bradley A. Warady, Rajiv Agarwal, Sripal Bangalore, Arlene Chapman, Adeera Levin, Peter Stenvinkel, Robert D. Toto, Glenn M. Chertow Aug 2020

Alport Syndrome Classification And Management., Bradley A. Warady, Rajiv Agarwal, Sripal Bangalore, Arlene Chapman, Adeera Levin, Peter Stenvinkel, Robert D. Toto, Glenn M. Chertow

Manuscripts, Articles, Book Chapters and Other Papers

Alport syndrome affects up to 60,000 people in the United States. The proposed reclassification of thin basement membrane nephropathy and some cases of focal segmental glomerulosclerosis as Alport syndrome could substantially increase the affected population. The reclassification scheme categorizes Alport syndrome as 3 distinct diseases of type IV collagen α3/4/5 based on a genetic evaluation: X-linked, autosomal, and digenic. This approach has the advantage of identifying patients at risk for progressive loss of kidney function. Furthermore, the shared molecular cause of Alport syndrome and thin basement membrane nephropathy arises from mutations in the COL4A3, COL4A4, and COL4A5 genes, …


Ewing Sarcoma Family Of Tumors-Derived Small Extracellular Vesicle Proteomics Identify Potential Clinical Biomarkers., Glenson Samuel, Jennifer Crow, Jon B. Klein, Michael L. Merchant, Emily Nissen, Devin C. Koestler, Kris Laurence, Xiaobo Liang, Kathleen Neville, Vincent S. Staggs, Atif Ahmed, Safinur Atay, Andrew K. Godwin Aug 2020

Ewing Sarcoma Family Of Tumors-Derived Small Extracellular Vesicle Proteomics Identify Potential Clinical Biomarkers., Glenson Samuel, Jennifer Crow, Jon B. Klein, Michael L. Merchant, Emily Nissen, Devin C. Koestler, Kris Laurence, Xiaobo Liang, Kathleen Neville, Vincent S. Staggs, Atif Ahmed, Safinur Atay, Andrew K. Godwin

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Ewing Sarcoma Family of Tumors (ESFT), the second most common pediatric osseous malignancy, are characterized by the pathognomonic chromosomal EWS-ETS translocation. Outside of tumor biopsy, no clinically relevant ESFT biomarkers exist. Additionally, tumor burden assessment at diagnosis, monitoring of disease responsiveness to therapy, and detection of disease recurrence are limited to radiographic imaging. To identify new, clinically relevant biomarkers we evaluated the proteome of a subset of ESFT-derived small extracellular vesicles (sEVs).

Materials and methods: We performed the first high quality proteomic study of ESFT-derived sEVs from 5 ESFT cell lines representing the most common EWS-ETS fusion types and …


Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath Aug 2020

Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Systemic sepsis is a known risk factor for bronchopulmonary dysplasia (BPD) in premature infants, a disease characterized by dysregulated angiogenesis and impaired vascular and alveolar development. We have previoulsy reported that systemic endotoxin dysregulates pulmonary angiogenesis resulting in alveolar simplification mimicking BPD in neonatal mice, but the underlying mechanisms remain unclear. We undertook an unbiased discovery approach to identify novel signaling pathways programming sepsis-induced deviant lung angiogenesis. Pulmonary endothelial cells (EC) were isolated for RNA-Seq from newborn C57BL/6 mice treated with intraperitoneal lipopolysaccharide (LPS) to mimic systemic sepsis. LPS significantly differentially-regulated 269 genes after 6 h, and 1,934 genes after …


Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From The International Kawasaki Disease Registry., Brian W. Mccrindle, Cedric Manlhiot, Jane W Newburger, Ashraf S. Harahsheh, Therese M. Giglia, Frederic Dallaire, Kevin Friedman, Tisiana Low, Kyle Runeckles, Mathew Mathew, Andrew S. Mackie, Nadine F. Choueiter, Pei-Ni Jone, Shelby Kutty, Anji T. Yetman, Geetha Raghuveer, Elfriede Pahl, Kambiz Norozi, Kimberly E Mchugh, Jennifer S. Li, Sarah D De Ferranti, Nagib Dahdah, International Kawasaki Disease Registry Aug 2020

Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From The International Kawasaki Disease Registry., Brian W. Mccrindle, Cedric Manlhiot, Jane W Newburger, Ashraf S. Harahsheh, Therese M. Giglia, Frederic Dallaire, Kevin Friedman, Tisiana Low, Kyle Runeckles, Mathew Mathew, Andrew S. Mackie, Nadine F. Choueiter, Pei-Ni Jone, Shelby Kutty, Anji T. Yetman, Geetha Raghuveer, Elfriede Pahl, Kambiz Norozi, Kimberly E Mchugh, Jennifer S. Li, Sarah D De Ferranti, Nagib Dahdah, International Kawasaki Disease Registry

Manuscripts, Articles, Book Chapters and Other Papers

Background Coronary artery aneurysms (CAAs) may occur after Kawasaki disease (KD) and lead to important morbidity and mortality. As CAA in patients with KD are rare and heterogeneous lesions, prognostication and risk stratification are difficult. We sought to derive the cumulative risk and associated factors for cardiovascular complications in patients with CAAs after KD. Methods and Results A 34-institution international registry of 1651 patients with KD who had CAAs (maximum CAA Z score ≥2.5) was used. Time-to-event analyses were performed using the Kaplan-Meier method and Cox proportional hazard models for risk factor analysis. In patients with CAA Z scores ≥10, …


Atopic Dermatitis: Infected, Children's Mercy Kansas City Aug 2020

Atopic Dermatitis: Infected, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Atopic Dermatitis: Non-Infected, Children's Mercy Kansas City Aug 2020

Atopic Dermatitis: Non-Infected, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Dual X-Ray Absorptiometry Has Limited Utility In Detecting Bone Pathology In Children With Hypophosphatasia: A Pooled Post Hoc Analysis Of Asfotase Alfa Clinical Trial Data., Jill H. Simmons, Eric T. Rush, Anna Petryk, Shanggen Zhou, Gabriel Á. Martos-Moreno Aug 2020

Dual X-Ray Absorptiometry Has Limited Utility In Detecting Bone Pathology In Children With Hypophosphatasia: A Pooled Post Hoc Analysis Of Asfotase Alfa Clinical Trial Data., Jill H. Simmons, Eric T. Rush, Anna Petryk, Shanggen Zhou, Gabriel Á. Martos-Moreno

Manuscripts, Articles, Book Chapters and Other Papers

Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in children. The role of dual X-ray absorptiometry (DXA) in the assessment of children with HPP has been insufficiently explored. This post hoc analysis included pooled DXA data from 2 open-label, multicenter studies in 19 children with HPP. The study population was aged ≥5 to≤6.6 years at enrollment (male: 79%; median age at enrollment: 10.4 y [range: 5.9-16.7]; treatment duration: 6.3 y [range: 0.1-6.6]. Baseline height Z-scores indicated short …


Consensus Guidelines For Management Of Hyperammonaemia In Paediatric Patients Receiving Continuous Kidney Replacement Therapy., Rupesh Raina, Jirair K. Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew, Marcel C. Machado, Ronith Chakraborty, Meghana Vemuganti, Manpreet K. Grewal, Timothy Bunchman, Sidharth Kumar Sethi, Vinod Krishnappa, Mignon Mcculloch, Khalid Alhasan, Arvind Bagga, Rajit K. Basu, Franz Schaefer, Guido Filler, Bradley A. Warady Aug 2020

Consensus Guidelines For Management Of Hyperammonaemia In Paediatric Patients Receiving Continuous Kidney Replacement Therapy., Rupesh Raina, Jirair K. Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew, Marcel C. Machado, Ronith Chakraborty, Meghana Vemuganti, Manpreet K. Grewal, Timothy Bunchman, Sidharth Kumar Sethi, Vinod Krishnappa, Mignon Mcculloch, Khalid Alhasan, Arvind Bagga, Rajit K. Basu, Franz Schaefer, Guido Filler, Bradley A. Warady

Manuscripts, Articles, Book Chapters and Other Papers

Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Moreover, consensus guidelines are lacking for the use of non-kidney replacement therapy (NKRT) and kidney replacement therapies (KRTs, including peritoneal dialysis, continuous KRT, haemodialysis and hybrid therapy) to manage hyperammonaemia in neonates and children. Prompt treatment with KRT and/or NKRT, the choice of which depends on the …


De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman Aug 2020

De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.

METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.

RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was …


The Relationship Between Mucosal Inflammatory Cells, Specific Symptoms, And Psychological Functioning In Youth With Irritable Bowel Syndrome., Meenal Singh, Vivekanand Singh, Jennifer Verrill Schurman, Jennifer Colombo, Craig A. Friesen Jul 2020

The Relationship Between Mucosal Inflammatory Cells, Specific Symptoms, And Psychological Functioning In Youth With Irritable Bowel Syndrome., Meenal Singh, Vivekanand Singh, Jennifer Verrill Schurman, Jennifer Colombo, Craig A. Friesen

Manuscripts, Articles, Book Chapters and Other Papers

Both mucosal inflammation and psychologic dysfunction have been implicated in irritable bowel syndrome (IBS). While some relationships between inflammation (mast cells and eosinophils) and depression have been reported in adults with IBS, relationships between inflammation and psychologic function have not been studied in children and adolescents. The aims of the current study were to: (1) assess densities of colonic mast cells, eosinophils, and TH17 cells in youth with IBS; and, (2) explore relationships between these cells and specific IBS symptoms and psychologic functioning. Utilizing previously obtained biopsies from the descending and rectosigmoid colons, densities were determined for mast cells, eosinophils, …


Barriers To Maternal Retention In Hiv Care In Ghana: Key Differences During Pregnancy And The Postpartum Period., Kwame S. Sakyi, Margaret Y. Lartey, Caitlin E. Kennedy, Julie A. Dension, Luke C. Mullany, Prince G. Owusu, Emma Sacks, Emily A. Hurley, Pamela J. Surkan Jul 2020

Barriers To Maternal Retention In Hiv Care In Ghana: Key Differences During Pregnancy And The Postpartum Period., Kwame S. Sakyi, Margaret Y. Lartey, Caitlin E. Kennedy, Julie A. Dension, Luke C. Mullany, Prince G. Owusu, Emma Sacks, Emily A. Hurley, Pamela J. Surkan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Maternal retention in HIV care is lower for women in the postpartum period than during pregnancy, but the reasons are poorly understood. We examined key differences in barriers to retention in HIV care during and after pregnancy.

METHODS: We conducted semi-structured, in-depth interviews with 30 postpartum women living with HIV. Participants were recruited from two tertiary facilities implementing Option B+ for prevention of mother-to-child HIV transmission in Accra, Ghana. We collected data from mothers who had disengaged from HIV care and those who were still engaged in care. The interviews were analyzed using principles adapted from grounded theory.

RESULTS: …


The Spectrum And Severity Of Bleeding In Adolescents With Low Von Willebrand Factor-Associated Heavy Menstrual Bleeding., Lakshmi Srivaths, Charles G. Minard, Sarah H. O'Brien, Allison P Wheeler, Eric Mullins, Mukta Sharma, Robert Sidonio, Shilpa Jain, Ayesha Zia, Margaret V. Ragni, Roshni Kulkarni, Jennifer E. Dietrich, Peter A. Kouides Jul 2020

The Spectrum And Severity Of Bleeding In Adolescents With Low Von Willebrand Factor-Associated Heavy Menstrual Bleeding., Lakshmi Srivaths, Charles G. Minard, Sarah H. O'Brien, Allison P Wheeler, Eric Mullins, Mukta Sharma, Robert Sidonio, Shilpa Jain, Ayesha Zia, Margaret V. Ragni, Roshni Kulkarni, Jennifer E. Dietrich, Peter A. Kouides

Manuscripts, Articles, Book Chapters and Other Papers

Low von Willebrand factor (VWF) in adults is associated with significant bleeding, most notably heavy menstrual bleeding (HMB) and postpartum hemorrhage, although this has not been characterized in adolescents. The objectives of this analysis of a multicenter single arm observational cohort study in adolescents with low VWF-associated HMB were to describe the bleeding phenotype, HMB severity, and related complications. Eligibility criteria included postmenarchal females(Pictorial Blood Assessment Chart [PBAC] score >100) and low VWF (2 values of VWF activity ≥30 and ≤50 IU/dL). Patients diagnosed with other bleeding disorders were ineligible. Clinical phenotype data, including PBAC and Bleeding Assessment Tool (BAT) …


Assessment And Treatment Of Down Syndrome-Associated Arthritis: A Survey Of Pediatric Rheumatologists., Anna Nicek, Nasreen Talib, Daniel Lovell, Chelsey Smith, Mara L. Becker, Jordan T. Jones Jul 2020

Assessment And Treatment Of Down Syndrome-Associated Arthritis: A Survey Of Pediatric Rheumatologists., Anna Nicek, Nasreen Talib, Daniel Lovell, Chelsey Smith, Mara L. Becker, Jordan T. Jones

Manuscripts, Articles, Book Chapters and Other Papers

Background: Inflammatory arthritis in children with Down syndrome (DS) was first described in 1984 and is now termed Down syndrome-associated arthritis (DA). Studies have shown that DA is under-recognized with a 19-month average delay in diagnosis. Additionally, most patients present with polyarticular, rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative disease. Current therapies for juvenile idiopathic arthritis (JIA) have been used, but appear to be poorly tolerated, more toxic and less effective in patients with DA. There is currently no standardized approach to the assessment or management of DA. The objective of this study was to describe provider perspectives toward …


Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas Jul 2020

Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas

Manuscripts, Articles, Book Chapters and Other Papers

Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.


2020-2021 Pediatric Subspecialty Trainees, Children's Mercy Hospital Jul 2020

2020-2021 Pediatric Subspecialty Trainees, Children's Mercy Hospital

Residents and Fellows Portraits

Photo composites of the graduate pediatric trainees in adolescent medicine, allergy/immunology, child abuse pediatrics, child neurology, coagulation, congenital cardiac surgery; clinical child psychology, developmental-behavioral pediatrics, epilepsy, headache medicine, hospice & palliative care, laboratory genetics & genomics, neonatal-perinatal medicine, pediatric adolescent gynecology, pediatric bioethics, pediatric cardiology, pediatric clinical pharmacology, pediatric critical care medicine, pediatric dentistry, pediatric emergency medicine, pediatric EM/child abuse, pediatric dermatology, pediatric endocrinology, pediatric gastroenterology, pediatric hematology/oncology, pediatric hospital medicine, pediatric infectious diseases, pediatric nephrology, pediatric optometry, pediatric otolaryngology, pediatric pathology, pediatric pulmonology, pediatric readiology, pediatric rehabilitation, pediatric sports medicine, pediatric surgery, pharmacy, pediatric residency and med/peds residency


Building A Contextually-Relevant Understanding Of Resilience Among African American Youth Exposed To Community Violence., Briana Woods-Jaeger, Emily Siedlik, Amber Adams, Kaitlin Piper, Paige O'Connor, Jannette Berkley-Patton Jul 2020

Building A Contextually-Relevant Understanding Of Resilience Among African American Youth Exposed To Community Violence., Briana Woods-Jaeger, Emily Siedlik, Amber Adams, Kaitlin Piper, Paige O'Connor, Jannette Berkley-Patton

Manuscripts, Articles, Book Chapters and Other Papers

Studies consistently demonstrate that African American youth experience disproportionate levels of community violence, which is associated with negative health and well-being outcomes among these youth. The frequency and severity of community violence exposure is a unique challenge for these youth and requires tailored approaches to promote resilience after community violence exposure. However, limited research exists that operationalizes resilience after community violence based on the unique context and lived experience of African American youth. Developing a more contextually relevant understanding of resilience is critical to reducing health inequities experienced by African American youth and promoting their well-being. Five focus groups were …


Congenital Abnormalities Of The Lower Airways And Lungs, Christopher M. Oermann Jul 2020

Congenital Abnormalities Of The Lower Airways And Lungs, Christopher M. Oermann

Presentations

Goals and Objectives. Participants will be able to: Describe the 5 stages of fetal lung development. Summarize the prenatal identification and management of congenital abnormalities of the lower airways and lung (CALAL). Explain the classification of CALAL. Compare the clinical characteristics, pathology, and management of common CALAL. Discuss the long term prognosis of CALAL