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Lipomatous Infiltration In Tuberous Sclerosis Complex - A Case Series And Literature Review., Mohammed Ilyas, Julio Quezada, Erin K. Opfer Oct 2021

Lipomatous Infiltration In Tuberous Sclerosis Complex - A Case Series And Literature Review., Mohammed Ilyas, Julio Quezada, Erin K. Opfer

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Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) are usually hamartomatous in nature, but lesions arising from adipocytes are rare. There are only three previous reports of association of TSC with diffuse lipomatosis. Herein we present a case series of diffuse lipomatosis in three subjects with TSC and proceed to review the literature for any other reported cases. On the basis of the three index cases and identification of three more cases in the literature, …


A Prospective Observational Study Of Antihemophilic Factor (Recombinant) Prophylaxis Related To Physical Activity Levels In Patients With Hemophilia A In The United States (Space)., Barbara A. Konkle, Doris V. Quon, Leslie Raffini, Michael Recht, Vlad C. Radulescu, Shannon L. Carpenter, Amy L. Dunn, Mei Lu, Maureen Watt Oct 2021

A Prospective Observational Study Of Antihemophilic Factor (Recombinant) Prophylaxis Related To Physical Activity Levels In Patients With Hemophilia A In The United States (Space)., Barbara A. Konkle, Doris V. Quon, Leslie Raffini, Michael Recht, Vlad C. Radulescu, Shannon L. Carpenter, Amy L. Dunn, Mei Lu, Maureen Watt

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Introduction: High collision-risk physical activity can increase bleeding risk in people with hemophilia A, as can increasing the time between factor VIII (FVIII) administration and physical activity. FVIII prophylaxis may be tailored to planned activities to prevent activity-related bleeding.

Aim: To explore the relationship between physical activity levels, FVIII infusion timing, and occurrence of bleeding in patients with severe/moderately severe hemophilia A without FVIII inhibitors receiving antihemophilic factor (recombinant) (rAHF; ADVATE®; Baxalta US Inc., a Takeda company, Lexington, MA, USA).

Methods: SPACE was a 6-month, prospective, multicenter, observational outcomes study (NCT02190149). Enrolled patients received an eDiary application and …


Knowledge About Juvenile Idiopathic Arthritis-Associated Uveitis: More Frequent Reminders Are Associated With Higher Patient And Family Uveitis Knowledge., Ashley M. Cooper, Elaine R. Flanagan, Tova Ronis, Baruch Goldberg, Ashley K. Sherman, Chelsey Smith, Gary N. Holland, Carra Uveitis Workgroup Oct 2021

Knowledge About Juvenile Idiopathic Arthritis-Associated Uveitis: More Frequent Reminders Are Associated With Higher Patient And Family Uveitis Knowledge., Ashley M. Cooper, Elaine R. Flanagan, Tova Ronis, Baruch Goldberg, Ashley K. Sherman, Chelsey Smith, Gary N. Holland, Carra Uveitis Workgroup

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BACKGROUND: Chronic anterior uveitis is a sight-threatening complication of juvenile idiopathic arthritis (JIA) and a primary contributor to long-term morbidity in people with JIA. Levels of knowledge about uveitis among JIA patients and their parents are unknown. A survey of JIA patients and parents was conducted to assess knowledge about uveitis complications and recommended screening.

METHODS: A survey was developed consisting of six demographic questions, six arthritis/uveitis history questions, and nine uveitis knowledge questions. The survey was administered to JIA patients age 14 and older and parents of patients with JIA at three pediatric rheumatology practices and online through the …


Organophosphate Pesticides And Progression Of Chronic Kidney Disease Among Children: A Prospective Cohort Study., Melanie H. Jacobson, Yinxiang Wu, Mengling Liu, Kurunthachalam Kannan, Adela Jing Li, Morgan Robinson, Bradley A. Warady, Susan Furth, Howard Trachtman, Leonardo Trasande Oct 2021

Organophosphate Pesticides And Progression Of Chronic Kidney Disease Among Children: A Prospective Cohort Study., Melanie H. Jacobson, Yinxiang Wu, Mengling Liu, Kurunthachalam Kannan, Adela Jing Li, Morgan Robinson, Bradley A. Warady, Susan Furth, Howard Trachtman, Leonardo Trasande

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Background: Growing evidence suggests that exposure to environmental chemicals, such as pesticides, impacts renal function and chronic kidney disease (CKD). However, it is not clear if pesticides may affect CKD progression and no studies exist in children.

Objectives: The objective of this study was to examine associations between serially measured urinary OP pesticide metabolites and clinical and laboratory measures of kidney function over time among children with CKD.

Methods: This study used data on 618 participants enrolled in the CKD in Children study (CKiD), a cohort study of pediatric CKD patients from the US and Canada. Children were followed over …


Data-Driven Clustering Identifies Features Distinguishing Multisystem Inflammatory Syndrome From Acute Covid-19 In Children And Adolescents., Alon Geva, Manish M. Patel, Margaret M. Newhams, Cameron C. Young, Mary Beth F. Son, Michele Kong, Aline B. Maddux, Mark W. Hall, Becky J. Riggs, Aalok R. Singh, John S. Giuliano, Charlotte V. Hobbs, Laura L. Loftis, Gwenn E. Mclaughlin, Stephanie P. Schwartz, Jennifer E. Schuster, Christopher J. Babbitt, Natasha B. Halasa, Shira J. Gertz, Sule Doymaz, Janet R. Hume, Tamara T. Bradford, Katherine Irby, Christopher L. Carroll, John K. Mcguire, Keiko M. Tarquinio, Courtney M. Rowan, Elizabeth H. Mack, Natalie Z. Cvijanovich, Julie C. Fitzgerald, Philip C. Spinella, Mary A. Staat, Katharine N. Clouser, Vijaya L. Soma, Heda Dapul, Mia Maamari, Cindy Bowens, Kevin M. Havlin, Peter M. Mourani, Sabrina M. Heidemann, Steven M. Horwitz, Leora R. Feldstein, Mark W. Tenforde, Jane W. Newburger, Kenneth D. Mandl, Adrienne G. Randolph, Overcoming Covid-19 Investigators Oct 2021

Data-Driven Clustering Identifies Features Distinguishing Multisystem Inflammatory Syndrome From Acute Covid-19 In Children And Adolescents., Alon Geva, Manish M. Patel, Margaret M. Newhams, Cameron C. Young, Mary Beth F. Son, Michele Kong, Aline B. Maddux, Mark W. Hall, Becky J. Riggs, Aalok R. Singh, John S. Giuliano, Charlotte V. Hobbs, Laura L. Loftis, Gwenn E. Mclaughlin, Stephanie P. Schwartz, Jennifer E. Schuster, Christopher J. Babbitt, Natasha B. Halasa, Shira J. Gertz, Sule Doymaz, Janet R. Hume, Tamara T. Bradford, Katherine Irby, Christopher L. Carroll, John K. Mcguire, Keiko M. Tarquinio, Courtney M. Rowan, Elizabeth H. Mack, Natalie Z. Cvijanovich, Julie C. Fitzgerald, Philip C. Spinella, Mary A. Staat, Katharine N. Clouser, Vijaya L. Soma, Heda Dapul, Mia Maamari, Cindy Bowens, Kevin M. Havlin, Peter M. Mourani, Sabrina M. Heidemann, Steven M. Horwitz, Leora R. Feldstein, Mark W. Tenforde, Jane W. Newburger, Kenneth D. Mandl, Adrienne G. Randolph, Overcoming Covid-19 Investigators

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Background: Multisystem inflammatory syndrome in children (MIS-C) consensus criteria were designed for maximal sensitivity and therefore capture patients with acute COVID-19 pneumonia.

Methods: We performed unsupervised clustering on data from 1,526 patients (684 labeled MIS-C by clinicians)clusters, followed by recursive feature elimination to identify characteristics of potentially misclassified MIS-C-labeled patients.

Findings: Of 94 clinical features tested, 46 were retained for clustering. Cluster 1 patients (N = 498; 92% labeled MIS-C) were mostly previously healthy (71%), with mean age 7·2 ± 0·4 years, predominant cardiovascular (77%) and/or mucocutaneous (82%) involvement, high inflammatory biomarkers, and mostly SARS-CoV-2 PCR negative (60%). Cluster …


Aberrantly Low Stat3 And Stat5 Responses Are Associated With Poor Outcome And An Inflammatory Gene Expression Signature In Pediatric Acute Myeloid Leukemia., P Narayanan, T-K Man, R B Gerbing, R Ries, A M Stevens, Y-C Wang, X Long, A S. Gamis, T Cooper, S Meshinchi, T A Alonzo, M S Redell Oct 2021

Aberrantly Low Stat3 And Stat5 Responses Are Associated With Poor Outcome And An Inflammatory Gene Expression Signature In Pediatric Acute Myeloid Leukemia., P Narayanan, T-K Man, R B Gerbing, R Ries, A M Stevens, Y-C Wang, X Long, A S. Gamis, T Cooper, S Meshinchi, T A Alonzo, M S Redell

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The relapse rate for children with acute myeloid leukemia is nearly 40% despite aggressive chemotherapy and often stem cell transplant. We sought to understand how environment-induced signaling responses are associated with clinical response to treatment. We previously reported that patients whose AML cells showed low G-CSF-induced STAT3 activation had inferior event-free survival compared to patients with stronger STAT3 responses. Here, we expanded the paradigm to evaluate multiple signaling parameters induced by a more physiological stimulus. We measured STAT3, STAT5 and ERK1/2 responses to G-CSF and to stromal cell-conditioned medium for 113 patients enrolled on COG trials AAML03P1 and AAML0531. Low …


Longitudinal Associations Between Family Conflict, Parent Engagement, And Metabolic Control In Children With Recent-Onset Type 1 Diabetes., Hannah Case, David D. Williams, Shideh Majidi, Diana Ferro, Mark A. Clements, Susana R. Patton Oct 2021

Longitudinal Associations Between Family Conflict, Parent Engagement, And Metabolic Control In Children With Recent-Onset Type 1 Diabetes., Hannah Case, David D. Williams, Shideh Majidi, Diana Ferro, Mark A. Clements, Susana R. Patton

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Introduction: We prospectively investigated the associations between diabetes-related family conflict, parent engagement in child type 1 diabetes (T1D) care, and child glycated hemoglobin (HbA1c) in 127 families of school-age children who we recruited within the first year of their T1D diagnosis.

Research design and methods: Parents completed the Diabetes Family Conflict Scale-Revised (DFCS-R) to assess for diabetes-related family conflict and the Diabetes Self-Management Questionnaire-Brief (DSMQ-Brief) to assess parent engagement in child T1D care at the initial study visit (T1) and at 12 (T2) and 27 (T3) months later. We also collected child HbA1c at these time points. Our analyses included …


Initiative To Increase The Rate Of Emergency Department Physician Preprocedure Time-Out Documentation., Arjun Sarin, Nikita Sharma, Shobhit Jain Sep 2021

Initiative To Increase The Rate Of Emergency Department Physician Preprocedure Time-Out Documentation., Arjun Sarin, Nikita Sharma, Shobhit Jain

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The preprocedure time-out is an important safety measure to verify patient identity and accuracy of a planned procedure. The time-out is an institutional and Joint Commission requirement. However, physicians in our emergency departments (EDs) document it inconsistently. We aimed to improve physician preprocedure time-out documentation for deep sedation (ketamine and/or propofol) from 75% to 90%, and separately for cutaneous abscess incision and drainage (I&D) from 94% to 98% by June 2020.

Methods: We analyzed 1 year of baseline data and weekly electronic medical record (EMR) reports from November 2019 through June 2020. Our outcome measures were the rate of physician …


Brief Musculoskeletal Screen And Patient Education For Down Syndrome-Associated Arthritis., Jordan T. Jones, Chelsey Smith, Nasreen Talib Sep 2021

Brief Musculoskeletal Screen And Patient Education For Down Syndrome-Associated Arthritis., Jordan T. Jones, Chelsey Smith, Nasreen Talib

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No abstract provided.


Are Body Surface Area Based Estimates Of Liver Volume Applicable To Children With Overweight Or Obesity? An In Vivo Validation Study., Chelsea Hosey-Cojocari, Sherwin S. Chan, Chance S. Friesen, Amie L. Robinson, Veronica Williams, Erica Swanson, Daniel O'Toole, Jansynn Radford, Neil J. Mardis, Trevor N. Johnson, J Steven Leeder, Valentina Shakhnovich Sep 2021

Are Body Surface Area Based Estimates Of Liver Volume Applicable To Children With Overweight Or Obesity? An In Vivo Validation Study., Chelsea Hosey-Cojocari, Sherwin S. Chan, Chance S. Friesen, Amie L. Robinson, Veronica Williams, Erica Swanson, Daniel O'Toole, Jansynn Radford, Neil J. Mardis, Trevor N. Johnson, J Steven Leeder, Valentina Shakhnovich

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The liver is the primary organ responsible for clearing most drugs from the body and thus determines systemic drug concentrations over time. Drug clearance by the liver appears to be directly related to organ size. In children, organ size changes as children age and grow. Liver volume has been correlated with body surface area (BSA) in healthy children and adults and has been estimated by functions of BSA. However, these relationships were derived from "typical" populations and it is unknown whether they extend to estimations of liver volumes for population "outliers," such as children with overweight or obesity, who today …


Mortality In Children Treated With Maintenance Peritoneal Dialysis: Findings From The International Pediatric Peritoneal Dialysis Network Registry., Sophie Ploos Van Amstel, Marlies Noordzij, Dagmara Borzych-Duzalka, Nicholas C. Chesnaye, Hong Xu, Lesley Rees, Il-Soo Ha, Zenaida L. Antonio, Nakysa Hooman, William Wong, Karel Vondrak, Yok Chin Yap, Hiren Patel, Maria Szczepanska, Sara Testa, Monica Galanti, Jameela A. Kari, Charlotte Samaille, Sevcan A. Bakkaloglu, Wai-Ming Lai, Luisa Fernanda Rojas, Mabel Sandoval Diaz, Biswanath Basu, Alicia Neu, Bradley A. Warady, Kitty J. Jager, Franz Schaefer Sep 2021

Mortality In Children Treated With Maintenance Peritoneal Dialysis: Findings From The International Pediatric Peritoneal Dialysis Network Registry., Sophie Ploos Van Amstel, Marlies Noordzij, Dagmara Borzych-Duzalka, Nicholas C. Chesnaye, Hong Xu, Lesley Rees, Il-Soo Ha, Zenaida L. Antonio, Nakysa Hooman, William Wong, Karel Vondrak, Yok Chin Yap, Hiren Patel, Maria Szczepanska, Sara Testa, Monica Galanti, Jameela A. Kari, Charlotte Samaille, Sevcan A. Bakkaloglu, Wai-Ming Lai, Luisa Fernanda Rojas, Mabel Sandoval Diaz, Biswanath Basu, Alicia Neu, Bradley A. Warady, Kitty J. Jager, Franz Schaefer

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RATIONALE & OBJECTIVE: Research on pediatric kidney replacement therapy (KRT) has primarily focused on Europe and North America. In this study, we describe the mortality risk of children treated with maintenance peritoneal dialysis (MPD) in different parts of the world and characterize the associated demographic and macroeconomic factors.

STUDY DESIGN: Prospective cohort study.

SETTING & PARTICIPANTS: Patients younger than 19 years at inclusion into the International Pediatric Peritoneal Dialysis Network registry, who initiated MPD between 1996 and 2017.

EXPOSURE: Region as primary exposure (Asia, Western Europe, Eastern Europe, Latin America, North America, and Oceania). Other demographic, clinical, and macroeconomic (4 …


Identifying The Content And Context Of Pain Within Paediatric Rheumatology Healthcare Professional Curricula In The Uk: A Summative Content Analysis., Rebecca Rachael Lee, Janet E. Mcdonagh, Mark Connelly, Sarah Peters, Lis Cordingley Aug 2021

Identifying The Content And Context Of Pain Within Paediatric Rheumatology Healthcare Professional Curricula In The Uk: A Summative Content Analysis., Rebecca Rachael Lee, Janet E. Mcdonagh, Mark Connelly, Sarah Peters, Lis Cordingley

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BACKGROUND: The curriculum for professionals working in paediatric rheumatology should include pain but it is unclear to what extent this currently occurs. The aim of this study was to identify pain-related curriculum content and the context in which pain is presented in educational and training documentation for healthcare professionals in this clinical speciality.

METHODS: Core curricula documents from UK based professional organisations were identified in partnership with healthcare professionals. Documents were analysed using a summative content analysis approach. Key pain terms were quantified and weighted frequencies were used to explore narrative pain themes. Latent content was interpreted qualitatively to explore …


Rumination Syndrome In Children And Adolescents: A Mini Review., Marc Martinez, Sandeep Rathod, Hunter J. Friesen, John Rosen, Craig A. Friesen, Jennifer Verrill Schurman Aug 2021

Rumination Syndrome In Children And Adolescents: A Mini Review., Marc Martinez, Sandeep Rathod, Hunter J. Friesen, John Rosen, Craig A. Friesen, Jennifer Verrill Schurman

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Introduction: Rumination syndrome involves recurrent regurgitation of food and is believed to be underdiagnosed with patients experiencing long delays in diagnosis. It can be associated with significant social consequences, high rates of school absenteeism, and medical complications such as weight loss. The primary aims of the current review are to assess the literature regarding prevalence, pathophysiology, and treatment outcomes with a focus on neurotypical children and adolescents.

Results: Population studies in children/adolescents, 5 years of age or older, range from 0 to 5.1%. There are fewer studies in clinical settings, but the prevalence appears to be higher in patients with …


Ability Of Video Telemetry To Predict Unplanned Hospital Admissions For Single Ventricle Infants., Doaa Aly, Lori Erickson, Hayley S. Hancock, Johnathan Apperson, Monica Gaddis, Girish S. Shirali, Suma Goudar Aug 2021

Ability Of Video Telemetry To Predict Unplanned Hospital Admissions For Single Ventricle Infants., Doaa Aly, Lori Erickson, Hayley S. Hancock, Johnathan Apperson, Monica Gaddis, Girish S. Shirali, Suma Goudar

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Background: Our Cardiac High Acuity Monitoring Program (CHAMP) uses home video telemetry (HVT) as an adjunct to monitor infants with single ventricle during the interstage period. This study describes the development of an objective early warning score using HVT, for identification of infants with single ventricle at risk for clinical deterioration and unplanned hospital admissions (UHA).

Methods and Results: Six candidate scoring parameters were selected to develop a pragmatic score for routine evaluation of HVT during the interstage period. We evaluated the individual and combined ability of these parameters to predict UHA. All infants with single ventricle monitored at home …


Ventricular Fibrillation Due To A Likely Pathogenic Sos1 Variant: An Unrecognized Etiology Of Infantile Sudden Death?, Christopher Follansbee, Lindsey Malloy-Walton Aug 2021

Ventricular Fibrillation Due To A Likely Pathogenic Sos1 Variant: An Unrecognized Etiology Of Infantile Sudden Death?, Christopher Follansbee, Lindsey Malloy-Walton

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We present the case of a female infant presenting after a ventricular fibrillation arrest found to have ectopic atrial tachycardia (EAT). Evaluation revealed a likely pathogenic variant in SOS1 not previously reported in affected individuals. SOS1 variants are associated with Noonan syndrome, which belongs to a family of related genetic syndromes affecting the RAS/MAPK signaling pathway. To date, this is the first case reported of a ventricular fibrillation arrest in a patient with a RASopathy-related variant prior to development of the typically associated structural cardiac phenotype and may represent a previously unrecognized etiology of sudden death during infancy.


Atypical Presentation Of Systemic Arthritis In A Toddler With Down Syndrome., Emily Worley, Weijie Li, Jordan T. Jones Aug 2021

Atypical Presentation Of Systemic Arthritis In A Toddler With Down Syndrome., Emily Worley, Weijie Li, Jordan T. Jones

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Systemic juvenile idiopathic arthritis (sJIA) is a chronic, inflammatory disease of childhood, which is characterized by the combination of arthritis, serositis, daily, high-spiking fevers, and evanescent macular rash and can present with the life-threatening complication of macrophage activation syndrome (MAS). Children with Down syndrome (DS) have complex medical challenges related to abnormalities in their immune system, which can cause a broad spectrum of disease manifestations, which can occur atypically. Children with DS are at increased risk for arthritis and interstitial lung disease (ILD) associated with sJIA that has high mortality. This case report outlines an atypical presentation of sJIA in …


An Update On The Assessment And Management Of Pediatric Abdominal Pain., Craig A. Friesen, Jennifer Colombo, Amanda D. Deacy, Jennifer Verrill Schurman Aug 2021

An Update On The Assessment And Management Of Pediatric Abdominal Pain., Craig A. Friesen, Jennifer Colombo, Amanda D. Deacy, Jennifer Verrill Schurman

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Chronic abdominal pain is very common in children and adolescent and results in high personal and social costs. Most youth with chronic abdominal pain fulfill criteria for a functional abdominal pain disorder (FAPD) as defined by Rome criteria. These are complex conditions with a wide array of biological, psychological, and social factors contributing to the experience of pain. The purpose of the current review is to provide an overview of the pathophysiology of FAPDs and an up-to-date summary of the literature related to FAPDs in children and adolescents, with additional focus on several areas (eg, diet and probiotics) where patients …


Pooled Safety Analysis Of Tisagenlecleucel In Children And Young Adults With B Cell Acute Lymphoblastic Leukemia., John E. Levine, Stephan A. Grupp, Michael A. Pulsipher, Andrew C. Dietz, Susana Rives, Douglas Myers, Keith August, Michael R. Verneris, Jochen Buechner, Theodore W. Laetsch, Henrique Bittencourt, Andre Baruchel, Michael W. Boyer, Barbara De Moerloose, Muna Qayed, Stella M. Davies, Christine L. Phillips, Timothy A. Driscoll, Peter Bader, Krysta Schlis, Patricia A. Wood, Rajen Mody, Lan Yi, Mimi Leung, Lamis K. Eldjerou, Carl H. June, Shannon L. Maude Aug 2021

Pooled Safety Analysis Of Tisagenlecleucel In Children And Young Adults With B Cell Acute Lymphoblastic Leukemia., John E. Levine, Stephan A. Grupp, Michael A. Pulsipher, Andrew C. Dietz, Susana Rives, Douglas Myers, Keith August, Michael R. Verneris, Jochen Buechner, Theodore W. Laetsch, Henrique Bittencourt, Andre Baruchel, Michael W. Boyer, Barbara De Moerloose, Muna Qayed, Stella M. Davies, Christine L. Phillips, Timothy A. Driscoll, Peter Bader, Krysta Schlis, Patricia A. Wood, Rajen Mody, Lan Yi, Mimi Leung, Lamis K. Eldjerou, Carl H. June, Shannon L. Maude

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Background: Tisagenlecleucel, an anti-CD19 chimeric antigen receptor T cell therapy, has demonstrated efficacy in children and young adults with relapsed/refractory B cell acute lymphoblastic leukemia (B-ALL) in two multicenter phase 2 trials (ClinicalTrials.gov, NCT02435849 (ELIANA) and NCT02228096 (ENSIGN)), leading to commercialization of tisagenlecleucel for the treatment of patients up to age 25 years with B-ALL that is refractory or in second or greater relapse.

Methods: A pooled analysis of 137 patients from these trials (ELIANA: n=79; ENSIGN: n=58) was performed to provide a comprehensive safety profile for tisagenlecleucel.

Results: Grade 3/4 tisagenlecleucel-related adverse events (AEs) were reported in 77% of …


Impact Of Genotype, Serum Bile Acids, And Surgical Biliary Diversion On Native Liver Survival In Fic1 Deficiency., Daan B E Van Wessel, Richard J. Thompson, Emmanuel Gonzales, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B F Hulscher, Daniele Serranti, Cigdem Arikan, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Dorothee Krebs-Schmitt, Steffen Hartleif, Wendy L. Van Der Woerd, Jian-She Wang, Li-Ting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan T. Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noémie Laverdure, Cristina Targa Ferreira, Felipe Ordonez, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. Mckiernan, Philip Rosenthal, Yumirle Turmelle, Girish S. Rao, Simon Horslen, Binita M. Kamath, Maria Rogalidou, Wikrom W. Karnsakul, Bettina Hansen, Henkjan J. Verkade, Natural Course And Prognosis Of Pfic And Effect Of Biliary Diversion Consortium Aug 2021

Impact Of Genotype, Serum Bile Acids, And Surgical Biliary Diversion On Native Liver Survival In Fic1 Deficiency., Daan B E Van Wessel, Richard J. Thompson, Emmanuel Gonzales, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B F Hulscher, Daniele Serranti, Cigdem Arikan, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Dorothee Krebs-Schmitt, Steffen Hartleif, Wendy L. Van Der Woerd, Jian-She Wang, Li-Ting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan T. Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noémie Laverdure, Cristina Targa Ferreira, Felipe Ordonez, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. Mckiernan, Philip Rosenthal, Yumirle Turmelle, Girish S. Rao, Simon Horslen, Binita M. Kamath, Maria Rogalidou, Wikrom W. Karnsakul, Bettina Hansen, Henkjan J. Verkade, Natural Course And Prognosis Of Pfic And Effect Of Biliary Diversion Consortium

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND AIMS: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.

APPROACH AND RESULTS: This multicenter, combined retrospective and prospective study included 130 patients with compound …


Effect Of Low Lactose Formula On The Short-Term Outcomes Of Neonatal Abstinence Syndrome: A Systematic Review., Mahdi Alsaleem, Jarrod Dusin, Gangaram Akangire Jul 2021

Effect Of Low Lactose Formula On The Short-Term Outcomes Of Neonatal Abstinence Syndrome: A Systematic Review., Mahdi Alsaleem, Jarrod Dusin, Gangaram Akangire

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The use of low lactose formula (LLF) in term and near-term infants in infants with neonatal abstinence syndrome (NAS) has been increasing recently. However, the clinical evidence of such use is limited. Our aim in this paper was to systematically review the current literature about the use of LLF in infants with NAS. We searched PubMed, Embase, Cumulative Index to Nursing and Allied Health Literature, and Cochrane Database of Systematic Reviews for articles published between 2015 and 2020. Only randomized controlled trials, prospective, and retrospective studies. The risk of bias was assessed by using published tools appropriate for the study …


Pharmacoepidemiology Of Drug Exposure In Intubated And Non-Intubated Preterm Infants With Severe Bronchopulmonary Dysplasia., Tamorah R. Lewis, William E Truog, L Nelin, N Napolitano, R L Mckinney Jul 2021

Pharmacoepidemiology Of Drug Exposure In Intubated And Non-Intubated Preterm Infants With Severe Bronchopulmonary Dysplasia., Tamorah R. Lewis, William E Truog, L Nelin, N Napolitano, R L Mckinney

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Background: Infants with severe bronchopulmonary dysplasia (BPD) are commonly treated with off-label drugs due to lack of approved therapies. To prioritize drugs for rigorous efficacy and safety testing, it is important to describe exposure patterns in this population.

Objective: Our objective was to compare rates of drug exposure between preterm infants with severe bronchopulmonary dysplasia based on respiratory support status at or beyond 36 weeks post-menstrual age.

Methods: A cross-sectional cohort study was performed on October 29, 2019. Preterm infants with severe BPD were eligible and details of respiratory support and drug therapy were recorded. Wilcoxon paired signed rank test …


Momhealth: A Feasibility Study Of A Multibehavioral Health Intervention For Pregnant And Parenting Adolescent Mothers., Karen A. Wambach, Ann M. Davis, Eve Lynn Nelson, Kelli Snow, Annie Yungmeyer, Rachel Muzzy, Karman Romero, Megan Murray Jul 2021

Momhealth: A Feasibility Study Of A Multibehavioral Health Intervention For Pregnant And Parenting Adolescent Mothers., Karen A. Wambach, Ann M. Davis, Eve Lynn Nelson, Kelli Snow, Annie Yungmeyer, Rachel Muzzy, Karman Romero, Megan Murray

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: In 2016, 209,809 babies were born to mothers 15 - 19 years of age, for a live birth rate of 20.3 per 1,000 in this age group. Many health issues surround adolescent mothers and their infants, many of which can be addressed through behavioral change. The main purpose of this study was to examine the feasibility, acceptability, usability, and relevance of momHealth, an innovative multiple health behavior change (MHBC) education and support mHealth intervention, focused on breastfeeding, healthy eating and active living, and depression prevention among pregnant and parenting adolescents. We also evaluated the proposed online surveys and physical …


Survey Of Telemedicine By Pediatric Nephrologists During The Covid-19 Pandemic., Rupesh Raina, Nikhil Nair, Hui Kim Yap, Guido Filler, Sidharth K. Sethi, Arvind Bagga, Pankaj Hari, Timothy Bunchman, Sharon Bartosh, Katherine Twombley, Gaurav Kapur, Mignon Mcculloch, Bradley A. Warady, Maria Díaz-González De Ferris, Sarah Rush Jul 2021

Survey Of Telemedicine By Pediatric Nephrologists During The Covid-19 Pandemic., Rupesh Raina, Nikhil Nair, Hui Kim Yap, Guido Filler, Sidharth K. Sethi, Arvind Bagga, Pankaj Hari, Timothy Bunchman, Sharon Bartosh, Katherine Twombley, Gaurav Kapur, Mignon Mcculloch, Bradley A. Warady, Maria Díaz-González De Ferris, Sarah Rush

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: The slow increase in use of telemedicine began to expand rapidly, along with reimbursement changes, during the coronavirus disease-2019 (COVID-19) pandemic. Standardized protocols for these services are lacking but are needed for effective and equitable health care. In this study, we queried pediatric nephrologists and their patients about their telemedicine experiences during the pandemic.

Methods: Surveys that were in compliance with the Health Insurance Portability and Accountability Act were deployed online to patients and physicians.

Results: We collected survey responses from 400 patients and 197 pediatric nephrologists. Patients reported positive experiences with telemedicine visits as it was logistically easier …


Update On The Safety Of Anesthesia In Young Children Presenting For Adenotonsillectomy., Stephanie R. Mcguire, Nichole M. Doyle Jul 2021

Update On The Safety Of Anesthesia In Young Children Presenting For Adenotonsillectomy., Stephanie R. Mcguire, Nichole M. Doyle

Manuscripts, Articles, Book Chapters and Other Papers

Tonsillectomy with and without adenoidectomy is a frequently performed surgical procedure in children. Although a common procedure, it is not without significant risk. It is critical for anesthesiologists to consider preoperative, intraoperative, and postoperative patient factors and events to optimize safety, especially in young children. In the majority of cases, the indication for adenotonsillectomy in young children is obstructive breathing. Preoperative evaluation for patient comorbidities, especially obstructive sleep apnea, risk factors for a difficult airway, and history of recent illness are crucial to prepare the patient for surgery and develop an anesthetic plan. Communication and collaboration with the otolaryngologist is …


Anatomy And Physiology Of The Palatine Tonsils, Adenoids, And Lingual Tonsils., Alexandra Arambula, Jason R. Brown, Laura Neff Jul 2021

Anatomy And Physiology Of The Palatine Tonsils, Adenoids, And Lingual Tonsils., Alexandra Arambula, Jason R. Brown, Laura Neff

Manuscripts, Articles, Book Chapters and Other Papers

Objective: This review aims to discuss the basic anatomy and physiology of the palatine and pharyngeal tonsils, with reference to how this foundational understanding may affect patient management and surgical procedures in these regions of the upper airway.

Methods: A literature search was performed using PubMed and Google Scholar using the MeSH terms tonsils, adenoids, anatomy, physiology, and adenotonsillectomy. Primary sources were excluded if they were abstracts only, non-English language, or non-human studies. Thirty-five sources were included in this review.

Results and conclusions: The pharyngeal and palatine tonsils are compact yet physiologically complex mucosa-associated lymphoid tissues that make up a …


Pharmacologic Management Of Post-Tonsillectomy Pain In Children., Daniel R. Jensen Jul 2021

Pharmacologic Management Of Post-Tonsillectomy Pain In Children., Daniel R. Jensen

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Tonsillectomy is a very common procedure in children, often performed on an outpatient basis. Severe postoperative pain is common, and can be prolonged. Despite a large number of available analgesic medications, often employed in combination, achieving adequate pain control remains a persistent challenge. Research suggests a tendency among caregivers to undertreat pain, and a need for detailed care instructions and education to ensure adequate pain management. Furthermore, ongoing questions regarding the safety and efficacy of the most commonly used medications have led to wide variance in practice patterns and continuous reassessment through research that yields sometimes conflicting results. This review …


Pediatric Drug-Induced Sleep Endoscopy: An Updated Review Of The Literature., Jill M. Arganbright, Jason C. Lee, Robert A. Weatherly Jun 2021

Pediatric Drug-Induced Sleep Endoscopy: An Updated Review Of The Literature., Jill M. Arganbright, Jason C. Lee, Robert A. Weatherly

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The field of drug-induced sleep endoscopy (DISE) has grown considerably over the last 10∼15 years, to now include its use in pediatric patients. In this review article, we outline our approach to the use of this technology in Children with Airway Obstruction, most specifically in the management of children with airway obstruction and known or suspected adenotonsillar enlargement.


Profiling Pretomanid As A Therapeutic Option For Tb Infection: Evidence To Date., Stephani L. Stancil, Fuad Mirzayev, Susan M. Abdel-Rahman Jun 2021

Profiling Pretomanid As A Therapeutic Option For Tb Infection: Evidence To Date., Stephani L. Stancil, Fuad Mirzayev, Susan M. Abdel-Rahman

Manuscripts, Articles, Book Chapters and Other Papers

Tuberculosis (TB) is the most deadly infectious disease globally. Although most individuals achieve a cure, a substantial portion develop multi-drug resistant TB which is exceedingly difficult to treat, and the number of effective agents is dwindling. Development of new anti-tubercular medications is imperative to combat existing drug resistance and accelerate global eradication of TB. Pretomanid (PA-824) represents one of the newest drug classes (ie, nitroimidazooxazines) approved in 2019 by the United States Food and Drug Administration as part of a multi-drug regimen (with bedaquiline and linezolid, BPaL) and recommended by the World Health Organization (WHO) to treat extensively-resistant (XR-TB) and …


Comparing Plastic Surgery And Otolaryngology Surgical Outcomes And Cartilage Graft Preferences In Pediatric Rhinoplasty: A Retrospective Cohort Study Analyzing 1839 Patients., Andres F. Doval, Ariel Ourian, Kieran S. Boochoon, Vishwanath Chegireddy, Michael Lypka, Anthony Echo Jun 2021

Comparing Plastic Surgery And Otolaryngology Surgical Outcomes And Cartilage Graft Preferences In Pediatric Rhinoplasty: A Retrospective Cohort Study Analyzing 1839 Patients., Andres F. Doval, Ariel Ourian, Kieran S. Boochoon, Vishwanath Chegireddy, Michael Lypka, Anthony Echo

Manuscripts, Articles, Book Chapters and Other Papers

Rhinoplasty in children has raised concerns about its safety in the pediatric population. There is scarcity of evidence describing outcomes and surgical techniques performed in pediatric rhinoplasty. We analyzed post-operative complications and cartilage preferences between plastic surgeons and otolaryngologists.Data was collected through the Pediatric National Surgical Improvement Program from 2012 to 2017. Current Procedure Terminology codes were used for data extraction. Patients were grouped according to type of rhinoplasty procedures (primary, secondary, and cleft rhinoplasty). A comparison between plastic surgeons and otolaryngologists was made in each group in terms of postoperative complications. Additionally, a sub-group analysis based on cartilage graft …


The Yin And The Yang Of Transformative Research During The Covid-19 Pandemic-A Perspective., Venkatesh Sampath, Ramani Ramchandran Jun 2021

The Yin And The Yang Of Transformative Research During The Covid-19 Pandemic-A Perspective., Venkatesh Sampath, Ramani Ramchandran

Manuscripts, Articles, Book Chapters and Other Papers

The COVID-19 pandemic has highlighted the necessity for scientists from diverse disciplines to collaboratively mitigate the singular calamity facing humanity this century. The ability of researchers to combine exponential advances in technology and scientific acumen has resulted in landmark discoveries in pediatric research and is surmounting the COVID-19 challenge. Several of these discoveries exist in a realm of research that is not classically "basic" or "clinical." Translational research characterizes this domain partially, but does not fully capture the integrated research approaches that have spurred these discoveries. Herein, we share our perspective on the common themes underpinning the basic and clinical …