Medicine and Health Sciences Commons^™

Parent Needs, Recommendations, And Systemic Challenges Affecting Pediatric Hypertension Detection, Abbas H. Zaidi, Erica D. Sood, Sarah De Ferranti, Samuel Gidding, Varsha Zadokar, Jonathan M. Miller, Anne E Kazak

Department of Pediatrics Faculty Papers

Pediatric hypertension (HTN) affects 3%-5% of children in the United States, yet only 25% are diagnosed and 60% lack recommended follow-up care. Skepticism about elevated blood pressure (BP) readings and reluctance to use antihypertensive medications by parents and clinicians highlight the need for stakeholder-informed strategies to address these challenges. This study examined parents' perceived needs, their recommended strategies to improve HTN detection, and contextual health system challenges. Parents and clinicians from 10 pediatric primary care clinics participated in semi-structured qualitative interviews. Only parents of children with documented stage 2 BP readings and a HTN diagnosis, but with gaps in care …

"My Child Needs A Chance And A Choice To Talk About Their Pain": Parents' Experiences And Perspectives Of Pain Communication In Paediatric Rheumatology., Rebecca R. Lee, Jade Edwards, Danielle C. Mountain, Janet E. Mcdonagh, Mark Connelly, Tonya Palermo, Sarah Peters

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To investigate parents' experiences and perspectives about pain communication with healthcare professionals in paediatric rheumatology.

METHODS: Data were collected using semi-structured telephone interviews with parents of children/adolescents recruited from three UK tertiary paediatric rheumatology centres. A framework analysis was used to characterise parents' experiences and perspectives.

RESULTS: Eighteen parents participated. Their children had a median age of 13 years (SD= 3.16 years, Range= 6-16 years, 55 % male), with diagnoses of chronic primary pain (e.g. Ehlers Danlos syndrome/Hypermobility) and chronic secondary pain (e.g. Juvenile Idiopathic Arthritis). Data were organised into four themes: 1) Parents' active role in pain communication, …

Contemporary Characteristics And Outcomes Of Pediatric Oncology Patients Participating In Early Phase Clinical Trials., Avina Rami, Kira Bona, Suzanne Shusterman, Karen Wright, Andrew E. Place, Puja J. Umaretiya, Ketki Bhushan, Steven G. Dubois, Kevin Campbell

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Phase 1 or phase 1/2 trials are a first step in pediatric cancer drug development. Currently, there is a paucity of information regarding contemporary outcomes for pediatric patients enrolled in these trials. We describe characteristics and outcomes of patients enrolled in pediatric phase 1 clinical trials over a 9-year period at a single institution.

METHODS: We queried our clinical trials management system to generate a list of patients enrolled and treated on pediatric phase 1 or phase 1/2 trials from 2011 to 2019. We collected baseline demographics, clinical data, efficacy, and safety endpoints post-enrollment including: time to death, objective …

Changes In Child Placement After Child Abuse Pediatrics Consultation For Suspected Physical Abuse., Kristine A. Campbell, Antoinette L. Laskey, Daniel M. Lindberg, M Katherine Henry, Porcia Vaughn, James Anderst, Megan M. Letson, Angela N. Bachim, Nancy S. Harper, Carmen M. Coombs, Lori D. Frasier, Joanne N. Wood

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between child abuse pediatric (CAP) assessments and child welfare outcomes is unknown.

OBJECTIVE: To determine the association between a CAP determination of the likelihood of physical abuse and change in child placement. We hypothesized that child race would be associated with CAP determination of abuse likelihood and child welfare outcomes.

PARTICIPANTS AND SETTING: Children under age ten years with in-person CAP consultation and referral to child protective services for suspected physical abuse at a U.S. pediatric referral center participating in CAPNET, a CAP research network, from 02/2021 to 01/2023.

METHODS: We created a series of generalized estimating …

Association Between Chd And Cerebral Abscess: Insights From A National Database., Keats Ewing, Rohit Seath Loomba, Saul Flores, Enrique G. Villarreal, Juan S. Farias, Matthew Taylor Coghill

Manuscripts, Articles, Book Chapters and Other Papers

CHD has been historically associated with the development of cerebral abscess. This retrospective cohort study examines the association of CHD with the occurrence of cerebral abscess in an inpatient paediatric population. We analysed data from the Pediatric Health Information System database, an administrative database that captures data from participating children's hospitals in the United States. We included all patients admitted to participating paediatric ICUs between 2016 and 2021 for a total of 426,029 admissions. Including all admissions, 1,387 (0.3%) patients experienced a cerebral abscess, and of 80,927 (19%) patients with CHD, only 88 (0.1%) experienced a cerebral abscess (odds ratio …

Cmr Findings In The Long-Term Outcomes After Multisystem Inflammatory Syndrome In Children (Music) Study, Sean M Lang, Dongngan T Truong, Andrew J Powell, Valiantsina Kazlova, Jane W Newburger, Jordan D Awerbach, Edem Binka, Tamara T Bradford, Mark Cartoski, Andrew Cheng, Michael P Dilorenzo, Audrey Dionne, Adam L Dorfman, Matthew D Elias, Olukayode Garuba, Jennifer F Gerardin, Keren Hasbani, Pei-Ni Jone, Christopher Z Lam, Nilanjana Misra, Lerraughn M Morgan, Arni Nutting, Jyoti K Patel, Joshua D Robinson, Eleanor L Schuchardt, Kristen Sexson Tejtel, Gautam K Singh, Timothy C Slesnick, Felicia Trachtenberg, Michael D Taylor, Music Study Investigators

Faculty, Staff and Students Publications

Background: Multisystem Inflammatory Syndrome in Children is characterized by high rates of acute cardiovascular involvement with rapid recovery of organ dysfunction. However, information regarding long-term sequelae is lacking. We sought to characterize the systolic function and myocardial tissue properties using cardiac magnetic resonance (CMR) imaging in a multicenter observational cohort of patients with Multisystem Inflammatory Syndrome in Children.

Methods: In this observational cohort study, comprising 32 centers in North America, CMR studies were analyzed by a core laboratory to assess ventricular volumetric data, tissue characterization, and coronary involvement.

Results: A total of 263 CMRs from 255 patients with Multisystem Inflammatory …

Experiences Of Emotional Support Among Parents Of Children And Adolescents With Type 1 Diabetes: A Qualitative Study, Sahar S Eshtehardi, Marissa N Baudino, Barbara J Anderson, Deborah I Thompson, David G Marrero, Marisa E Hilliard

Faculty, Staff and Students Publications

Objective: Parents of youth with type 1 diabetes (T1D) experience substantial disease-specific demands and distress, yet their perceptions about the emotional support they receive related to the challenges of caring for a child with diabetes have not been well described. This research aimed to characterize the types of emotional support parents of youth with T1D receive and how they experience emotional support.

Methods: As part of a larger qualitative study on diabetes health-related quality of life, 23 parents (96% mothers) of youth with T1D (M age = 10.9 ± 3.8 years; 35% female) completed semi-structured interviews about various aspects of …

Which Score For What? Operationalizing Standardized Cognitive Test Performance For The Assessment Of Change, Cristan Farmer, Audrey Thurm, Tanvi Das, E Martina Bebin, Jonathan A Bernstein, Elizabeth Berry-Kravis, Joseph D Buxbaum, Charis Eng, Thomas Frazier, Antonio Y Hardan, Alexander Kolevzon, Darcy A Krueger, Julian A Martinez-Agosto, Hope Northrup, Craig M Powell, Latha Valluripalli Soorya, Joyce Y Wu, Mustafa Sahin, Developmental Synaptopathies Consortium

Faculty, Staff and Student Publications

Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are intended for the assessment of within-individual change. Here we illustrate the use and interpretation of several Stanford Binet, 5th Edition score types (IQ, extended IQ, Z-normalized raw score, developmental quotient, raw sum score, age equivalent, and ability score) using data from two longitudinal studies of rare genetic conditions associated with IDD. We found …

Steroids For Pediatric Adenotonsillectomy Pain-A Prospective Multicenter Randomized Trial, Kevin D Pereira, Wiktoria A Gocal, Anna V Borodianski, Mary E Williamson, Hengameh K Behzadpour, Sonal Saraiya, Diego A Preciado, Amal Isaiah

Faculty, Staff and Students Publications

Objective: To compare postoperative caregiver-reported pain control of two steroid regimens following pediatric adenotonsillectomy. Secondary objectives assessed differences in analgesic use, return to normal diet, caregiver calls, adverse effects, and emergency room (ER) visits.

Study design: Prospective randomized pragmatic trial.

Setting: Three academic tertiary care children's hospitals.

Methods: Healthy children aged 3 to 10 undergoing adenotonsillectomy were recruited and randomly assigned to receive either 0.6 mg/kg dexamethasone on postoperative day 3 or prednisolone 0.5 mg/kg days 1 to 3. Both groups continued standard weight-based regimens of acetaminophen and ibuprofen. A blinded research team member performed postoperative telephone surveys using the …

2d Speckle Tracking Strain Echocardiography In Multisystem Inflammatory Syndrome In Children: A Multicenter Analysis From The Music Study, Francesca Sperotto, Valiantsina Kazlova, Felicia L Trachtenberg, Dongngan T Truong, Sanjeev Aggarwal, Joseph R Block, Tamara T Bradford, Sujatha Buddhe, Audrey Dionne, Andreea Dragulescu, Kanwal M Farooqi, Daniel E Forsha, Therese M Giglia, Ian F Golding, Keren Hasbani, Pei-Ni Jone, Anita Krishnan, Sean M Lang, Carol A Mcfarland, Elizabeth C Mitchell, Elias Moussi Saad, Todd T Nowlen, Ricardo H Pignatelli, Scott Pletzer, Ryan Serrano, Divya Shakti, Shubhika Srivastava, Thor Thorsson, Jodie K Votava-Smith, Hunter C Wilson, Jane W Newburger, Kevin G Friedman

Faculty, Staff and Students Publications

Background: 2D-speckle tracking echocardiography may help detect subclinical ventricular dysfunction, but data in multisystem inflammatory syndrome in children (MIS-C) are scarce. We investigated left ventricular (LV) strain parameters in MIS-C and their association with outcomes.

Methods: We performed an ambi-directional, 32-center cohort study on hospitalized patients with MIS-C (March 2020-November 2021) with at least 1 echocardiogram read by the Core Lab. Generalized estimating equation modeling was used to test associations between LV strain and a composite in-hospital adverse cardiovascular outcome (vasoactive support, arrhythmias, cardiac arrest, extracorporeal support, death, or heart transplant).

Results: Of 349 patients (median age, 8.7 years [interquartile …

Characteristics And Outcomes Of Children Initiated On High Flow Nasal Cannula And Continuous Positive Airway Pressure At The Emergency Centre Of A District Hospital In South Africa, Jessica Head, Andrew Redfern, Jana Hoole, Liezl Ulbrich, Refilwe More, Daniël J Van Hoving, Eric D Mccollum, Shubhada Hooli

Faculty, Staff and Students Publications

Introduction: High-flow nasal cannula (HFNC) and continuous positive airway pressure delivered via a nasal interface (nCPAP) are increasingly used for paediatric emergency care in South Africa. In Cape Town, initiation of HFNC/nCPAP at a district hospital, in most instances, necessitates transfer to a paediatric high-care facility. We sought to describe the population of children initiated on HFNC/nCPAP and their short-term hospital outcomes post interfacility transfer.

Methods: The authors conducted a one-year retrospective observational study between August 1st 2021, to July 31st, 2022 of children initiated on HFNC or nCPAP in the emergency centre (EC) of Khayelitsha district Hospital and transferred …

Eular/Acr Classification Criteria For Paediatric Chronic Nonbacterial Osteomyelitis (Cno)., Yongdong Zhao, Melissa S. Oliver, Anja Schnabel, Eveline Y. Wu, Zhaoyi Wang, Achille Marino, Cassyanne L. Aguiar, Jonathan D. Akikusa, Ummusen Kaya Akca, Beverley Almeida, Simone Appenzeller, Erin Balay-Dustrude, Ozge Basaran, Matthew L. Basiaga, Yelda Bilginer, David A. Cabral, Martina Capponi, Nathan Donaldson, Bugra Han Egeli, Emily Fox, Antonella Insalaco, Ramesh S. Iyer, Annette F. Jansson, Inna Kostik, Mikhail Kostik, Leonard K. Kovalick, Katia Tomie Kozu, Sivia K. Lapidus, Tzielan C. Lee, Aleksander Lenert, Kamran Mahmood, Edoardo Marrani, Doaa Mosad Mosa, Ian Muse, Alexander Mushkin, Katherine D. Nowicki, Farzana Nuruzzaman, Karen Onel, Manuela Pardeo, Trang Sophia Pham, Lauren Potts, Athimalaipet V. Ramanan, Angelo Ravelli, Nathan D. Rogers, Andrew W. Grim, Micol Romano, Natalie Rosenwasser, Takashi Shawn Sato, Gabriele Simonini, Jennifer B. Soep, Sara M. Stern, Timmy Strauss, Angela Taneja Kohli, Alexander C. Theos, Lori B. Tucker, Leslie F. Vogel, Shima Yasin, Stephen C. Wong, Katerina Bouchalova, Alison M. Hendry, Kevin C. Cain, Hermann J. Girschick, Fatma Dedeoglu, Christian M. Hedrich, Ronald M. Laxer, Polly J. Ferguson, Raymond Naden, Seza Ozen

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To develop and validate classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO) jointly supported by the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR).

METHODS: This international initiative had 4 phases: (1) candidate items were proposed in a survey of paediatric rheumatologists, (2) criteria definition and reduction by Delphi and nominal group technique exercises, (3) criteria weighting using multicriteria decision analysis, and (4) refinement of weights and threshold score in a development cohort of 441 patients and validation in another cohort of 514 patients.

RESULTS: The new EULAR/ACR classification criteria for CNO require …

Phenotypic Divergence Of Jag1- And Notch2-Associated Alagille Syndrome & Disease-Specific Notch2 Variant Classification Guidelines., Shannon M. Vandriel, Li-Ting Li, Huiyu She, Jian-She Wang, Kathleen M. Loomes, David A. Piccoli, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzińska, Lorenzo D'Antiga, Emanuele Nicastro, Florence Lacaille, Dominique Debray, Étienne M. Sokal, Tanguy Demaret, Rima L. Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Björn Fischler, Henrik Arnell, Catherine Larson-Nath, Winita Hardikar, Sahana Shankar, Shikha S. Sundaram, Alexander Chaidez, Pinar Bulut, Pier Luigi Calvo, Mureo Kasahara, Niviann Blondet, Eberhard Lurz, Anna-Maria Kavallar, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Noelle H. Ebel, Jeffrey A. Feinstein, Susan M. Siew, Michael O. Stormon, Saul J. Karpen, Rene Romero, M Kyle Jensen, Catalina Jaramillo, James E. Squires, Sarah M. Bedoyan, Deirdre A. Kelly, Jane Hartley, Henkjan J. Verkade, Way Seah Lee, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Henry C. Lin, Nathalie Rock, Yael Mozer-Glassberg, Amin J. Roberts, Helen M. Evans, Wikrom Karnsakul, Gabriella Nebbia, Victorien M. Wolters, Pamela L. Valentino, Jesus Quintero Bernabeu, Amal A. Aqul, Cigdem Arikan, María Legarda Tamara, Cristina Molera Busoms, Thomas Damgaard Sandahl, Giuseppe Indolfi, Andréanne N. Zizzo, Aglaia Zellos, Ruben E. Quiros-Tejeira, Ermelinda Santos-Silva, Kathleen B. Schwarz, Jernej Brecelj, Maria Camila Sanchez, Maria Lorena Cavalieri, Christos Tzivinikos, Sabina Wiecek, John Eshun, Nanda Kerkar, Quais Mujawar, Zerrin Önal, Cristina Gonçalves, Jennifer Garcia, Seema Alam, Carolina Jimenez-Rivera, Luis Bujanda, Richard J. Thompson, Bettina E. Hansen, Nancy B. Spinner, Melissa A. Gilbert, Binita M. Kamath, Global Alagille Alliance (Gala) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND & AIMS: Alagille syndrome (ALGS) is a rare, autosomal dominant disorder with high phenotypic heterogeneity. Disease-causing variants are primarily identified in Jagged1 (JAG1), with fewer reported in NOTCH2. JAG1 variants cause disease through a mechanism of haploinsufficiency, but the mechanism for NOTCH2 variants is not completely understood, making classification of variants more challenging. Using a large, international patient cohort acquired through the Global ALagille Alliance (GALA) study, we sought to improve classification of NOTCH2 variants and study phenotypic differences between NOTCH2- and JAG1-related disease.

METHODS: Clinical and molecular data from 952 individuals with ALGS in GALA were analysed and …

Dual-Vector Raavrh8 Gene Therapy For Gm2 Gangliosidosis: A Phase 1/2 Trial, Florian Eichler, Xuntian Jiang, Et Al.

2020-Current year OA Pubs

The dual rAAVrh8-HEXA and rAAVrh8-HEXB vector can restore central nervous system hexosaminidase (Hex) enzyme activity, decrease GM2 levels in cerebrospinal fluid and rescue phenotypic consequences of GM2 gangliosidosis, Tay-Sachs and Sandhoff diseases in animal models following simultaneous bi-thalamic (BiT) injections. Following up on an n = 2 expanded access trial, we initiated a phase 1/2, single-dose, dose-escalation of combined BiT, intra-cisterna magna and intrathecal infusion in children with Tay-Sachs and Sandhoff diseases (six infantile, three juvenile). The BiT injection volume and vector dose were doubled between four cohorts, with the lowest dose matching the earlier expanded access trial. Cerebrospinal fluid …

Influenza-Associated Acute Necrotizing Encephalopathy In Us Children, Andrew Silverman, Rachel Walsh, Jonathan D Santoro, Katherine Thomas, Elizabeth Ballinger, Kristen S Fisher, Ajay X Thomas, Brian Appavu, Michael C Kruer, Derek Neilson, Jasmine Knoll, April N Sharp, Hannah E Edelman, Scott Otallah, Alexandra Morgan, Aniela Grzezulkowska, John Nguyen, Lekha M Rao, Shaina M Hecht, Laura Catalano, Hunter Daigle, Catherine Kronfol, Jessica Wharton, David Adams, Adam Z Kalawi, Michael Kung, Janetta L Arellano, Lauren Smith, Devorah Segal, Kristina Feja, Eileen Broomall, Anuj Jayakar, Sandra R Arnold, Hanna Retallack, Craig A Press, Grace Gombolay, Madeleine H Mclaughlin, Varun Kannan, Kavita Thakkar, Tasmia Rezwan, Erin Hulfish, Dalia Eid, Jennifer Meylor, Diane Peng, Ryan Hurtado, Taylor Nickerson, Iris Mandell, Abigail U Carbonell, Mallory Kerner-Rossi, Divya Jayaraman, Mallory Davis, Rosemary Olivero, Neel Shah, Christina M Osborne, Bo Zhang, Christopher Cortina, Adrienne G Randolph, Suchitra Rao, Thomas Larocca, Keith P Van Haren, Molly Wilson-Murphy

Faculty, Staff and Students Publications

Importance: Acute necrotizing encephalopathy (ANE) is a rare, but severe, neurologic condition for which epidemiologic and management data remain limited. During the 2024-2025 US influenza season, clinicians at large pediatric centers anecdotally reported an increased number of children with influenza-associated ANE, prompting this national investigation.

Objective: To understand the clinical presentation, interventions, and outcomes among US children diagnosed with influenza-associated ANE.

Design, setting, and participants: This study was a multicenter case series of children diagnosed with ANE with longitudinal follow-up. A call for cases was issued via academic societies, public health agencies, and by directly contacting pediatric specialists at 76 …

A Systematic Review Of Technology-Infused Physical Activity Interventions In K-12 School Settings: Effectiveness, Roles, And Implementation Strategies, Taemin Ha, Jongho Moon, Hyeonho Yu, Xiaoping Fan, Lisa Paulson

Department of Kinesiology Scholarship and Creative Works

Background

Rapid technological advancements have rendered many prior reviews of technology-integrated physical activity (PA) interventions in K–12 schools obsolete. A comprehensive analysis examining both the effects of these interventions and the specific roles that technology plays has been notably lacking. This review aimed to systematically examine the effects of technology-infused PA interventions and identify the specific types, roles, and contextual applications of technology within K–12 schools.

Methods

This systematic review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. A thorough search across seven electronic databases (CINAHL, ERIC/EBSCOhost, PsycINFO, PubMed/MEDLINE, Scopus, SPORTDiscus, and Web of Science) …

Using The R = Mc2 Heuristic To Assess Whole-Of-School Physical Activity Implementation In Elementary Schools: A Cross-Sectional Study, Derek W Craig, Kevin Lanza, Christopher D Pfledderer, Andjelka Pavlovic, Kempson Onadeko, Natalia I Heredia, Jizyah Injil, Laura F Defina, Timothy J Walker

Faculty, Staff and Student Publications

Background: Schools are recommended to use a whole-of-school (WOS) approach to promote physical activity opportunities before, during, and after school. Yet, the barriers and facilitators to implementing a WOS approach successfully are not well understood. The R = MC2 heuristic, which defines readiness for implementation as a combination of an organization's motivation and capacity to implement, can enhance our understanding of implementation in the school setting. This study examines associations between constructs from the R = MC2 heuristic and schools' implementation of a WOS approach.

Methods: We conducted a secondary analysis of cross-sectional data from U.S. elementary schools participating in …

Sars-Cov-2 Antibody Responses In Children Exhibit Higher Fcr Engagement And Avidity Than In Adults, Carolyn A Cohen, Ludivine Grzelak, Susan S Chiu, David Sc Hui, Mike Yw Kwan, Owen Ty Tsang, Wai Hung Chan, Yat Sun Yau, Kelly Wk Lee, Masashi Mori, Gaya K Amarasinghe, Samuel Ms Cheng, Leo Lm Poon, Malik Peiris, Sophie A Valkenburg

2020-Current year OA Pubs

As intrinsic differences in humoral immune response to SARS-CoV-2 between children and adults remain unclear, we improved characterisation by defining the kinetics, specificity and function of antibodies to SARS-CoV-2 in children (n = 146, aged 9.4 ± 4.8 years with n = 257 samples) compared to adults (n = 85, aged 39.5 ± 15.2 years with n = 122 samples). We used plasma samples from an infection and vaccination-naive cohort study with RT-PCR confirmed ancestral B.1* SARS-CoV-2 virus infection with asymptomatic or mild disease, collected in Hong Kong between March to December 2020, from acute (0-14 days post infection) to …

Germline Structural Variations Involving The Pediatric Brain Tumor Transcriptome Include Disease-Relevant And Ancestry-Related Genes, Fengju Chen, Yiqun Zhang, Luis F Paulin, Fritz J Sedlazeck, Chad J Creighton

Faculty, Staff and Students Publications

Background: Germline Structural Variants (SVs) represent an important source of genetic diversity, in large part due to their influence on gene transcription. It is necessary to systematically catalog germline SVs and their associated impacted genes across different cohorts and tissue and cellular contexts, including pediatric brain or Central Nervous System (CNS) tumors.

Methods: We combined RNA with whole genome sequencing across 1430 pediatric brain or CNS tumor patients from the Children's Brain Tumor Network. We set out to systematically identify genes for which the proximity of germline SVs was recurrently and significantly associated with differential expression in the tumor sample …

Deep Phenotyping Of Obesity: Electronic Health Record-Based Temporal Modeling Study, Xiaoyang Ruan, Shuyu Lu, Liwei Wang, Andrew Wen, Sameer Murali, Hongfang Liu

Faculty, Staff and Student Publications

Background: Obesity affects approximately 40% of adults and 15%-20% of children and adolescents in the United States, and poses significant economic and psychosocial burdens. Currently, patient responses to any single antiobesity medication (AOM) vary significantly, making obesity deep phenotyping and associated precision medicine important targets of investigation.

Objective: This study aimed to evaluate the potential of electronic health records (EHR) as a primary data source for obesity deep phenotyping. We conducted an in-depth analysis of the data elements and quality available from obesity patients prior to pharmacotherapy and applied a multimodal longitudinal deep autoencoder to investigate the feasibility, data requirements, …

Revisiting The Effect Of Udenafil On Exercise Performance In Patients With Fontan Circulation: Results Of A Post Hoc Analysis Of The Fuel Trial., David J. Goldberg, Victor Zak, Chenwei Hu, Adam M. Lubert, Rahul H. Rathod, Daniel J. Penny, Robert Whitehill, Kurt R. Schumacher, Salil Ginde, Michelle Ploutz, Gi Beom Kim, Todd T. Nowlen, Michael V. Dimaria, Benjamin P. Frischhertz, Jonathan B. Wagner, Kimberly E. Mchugh, Brian W. Mccrindle, Mark J. Cartoski, Jon Detterich, Anji T. Yetman, Anitha S. John, Marc E. Richmond, Matthew Files, R Mark Payne, Andrew S. Mackie, Christopher K. Davis, William B. Orr, Ruchira Garg, Kevin D. Hill, Jennifer S. Yauck, Michael G. Mcbride, James Yeager, Gail D. Pearson, Stephen M. Paridon, Bryan H. Goldstein

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: In the FUEL (Fontan Udenafil Exercise Longitudinal) trial, a positive treatment effect was identified for outcomes at the ventilatory anaerobic threshold but not for the primary outcome, oxygen consumption (Vo₂ in participants with near-normal baseline exercise performance.

METHODS: Participants were divided into subgroups by baseline predicted peak Vo₂ (< 80% versus ≥80%). Treatment effect was evaluated in those with a baseline peak Vo2 < 80% predicted and linear regression was performed to examine the interaction between subgroup and response to therapy for the primary and secondary outcomes.

RESULTS: Of the 379 participants with paired exercise data, 302 (80%) had a baseline peak Vo₂ < 80% predicted. In this subgroup, the primary outcome of peak Vo₂ improved significantly after 6 months of udenafil treatment, when compared with placebo (0.23±4.17 mL/kg per min versus -0.90±3.74 mL/kg per min; P=0.021). Secondary outcome measures, including Vo₂ at …

Revisiting The Effect Of Udenafil On Exercise Performance In Patients With Fontan Circulation: Results Of A Post Hoc Analysis Of The Fuel Trial, David J Goldberg, William B Orr, Et Al.

2020-Current year OA Pubs

BACKGROUND: In the FUEL (Fontan Udenafil Exercise Longitudinal) trial, a positive treatment effect was identified for outcomes at the ventilatory anaerobic threshold but not for the primary outcome, oxygen consumption (Vo

METHODS: Participants were divided into subgroups by baseline predicted peak Vo

RESULTS: Of the 379 participants with paired exercise data, 302 (80%) had a baseline peak Vo

CONCLUSIONS: In this post hoc subgroup analysis, after exclusion of patients with Fontan circulation with near-normal baseline peak Vo

REGISTRATION: URL: https://clinicaltrials.gov; Unique identifier: NCT0274115.

Kdm2b Variants In The Cxxc Domain Impair Its Dna-Binding Ability And Cause A Distinct Neurodevelopmental Syndrome, Amber S E Van Oirsouw, Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir, Tahsin Stefan Barakat, Diana Baralle, Adelyn Beil, Marie-Noëlle Bonnet-Dupeyron, Philip M Boone, Arjan Bouman, Deanna Alexis Carere, Benjamin Cogne, Leslie Dunnington, Laura S Farach, Casie A Genetti, Bertrand Isidor, Louis Januel, Aakash Joshi, Nayana Lahiri, Kristen N Lee, Idit Maya, Meriel Mcentagart, Hope Northrup, Mathilde Pujalte, Kate Richardson, Susan Walker, Bobby P C Koeleman, Mariëlle Alders, Richard H Van Jaarsveld, Renske Oegema

Faculty, Staff and Student Publications

Rare variants affecting the epigenetic regulator KDM2B cause a recently delineated neurodevelopmental disorder. Interestingly, we previously identified both a general KDM2B-associated episignature and a subsignature specific to variants in the DNA-binding CxxC domain. In light of the existence of a distinct subsignature, we set out to determine if KDM2B CxxC variants are associated with a unique phenotype and disease mechanism. We recruited individuals with heterozygous CxxC variants and assessed the variants' effect on protein expression and DNA-binding ability. We analyzed clinical data from 19 individuals, including ten previously undescribed individuals with seven novel CxxC variants. The core phenotype of the …

A Specialized Training Toolkit To Increase Inclusion Of Children With Disabilities In After School Programs, Merilyn N. Powdrill, Abby Vander Laan, Angela Blackwell

Spring 2025 OTD Capstone Symposium

The Inclusive Pathways Toolkit was developed and implemented in after-school programs to enhance staff competencies in supporting children with disabilities. This initiative aimed to create a more inclusive environment by providing staff with practical strategies and resources, thereby improving the overall experience and participation of children with disabilities in after-school activities.

Urinary Pneumococcal Serotype Detection Among Children With And Without Community-Acquired Pneumonia, Lilliam Ambroggio, Lindsay R Grant, Jillian M Cotter, Samuel R Dominguez, Daniel Olson, Sara R Saporta-Keating, Cody Bender, Mohammad Ali, Kathleen Grice, Gonzalo Lerner, Michael W Pride, Ashley Miller, Maria J Tort, Annaellis Vaughan, Elizabeth Temte, Alec Edid, Alejandro Cané, Kristina G Hulten, Jill Stein, Bradford D Gessner, Edwin J Asturias

Faculty, Staff and Students Publications

Background: Urinary antigen detection (UAD) assays can address diagnostic challenges with culture-based identification of S. pneumoniae. We aimed to evaluate the utility of Pfizer's UAD1 and UAD2 assays for pneumococcal serotype surveillance in children with community acquired pneumonia (CAP) or upper respiratory tract infections (URI).

Methods: From March 2021-December 2023, children 3 months to 5 years who presented to the Children's Hospital Colorado Emergency Department with respiratory symptoms were enrolled as CAP or URI; healthy children served as controls. Nasal swabs were tested for pneumococcus by PCR. UAD assays identified pneumococcal serotypes from urine. Groups were compared using descriptive statistics. …

Hand Hygiene Knowledge, Attitudes, Practices, And Hand Dirtiness Of Primary School Students Before And After A Behavioral Change Intervention During The Covid-19 Pandemic, Belize 2022-2023, Anh N Ly, Christina Craig, Kelsey Mcdavid, Dian Maheia, Yolanda Gongora, Francis Morey, Russell Manzanero, Alexandra Medley, Allison Stewart, Allison Lino, Ramiro Quezada, Rosalva Blanco, Vickie Romero, Gerhaldine Morazan, Ella Hawes, Oluwadara Okeremi, Kanako Ishida, Matthew Lozier, Kristy O Murray

Faculty, Staff and Students Publications

Hand hygiene (HH) can prevent the spread of infectious diseases and school absenteeism. However, limited data exist on HH practices at schools. Our study assesses the impact of a pilot HH intervention in 12 schools in Belize during the coronavirus disease 2019 (COVID-19) pandemic. After a national assessment of existing water, sanitation, and hygiene resources (December 2021-January 2022), 12 pilot schools were selected to evaluate an HH intervention, which included environmental nudges and HH education. Baseline assessments occurred in March 2022, the HH intervention was implemented during October 2022-May 2023, and follow-up assessments were conducted in June 2023. Student knowledge, …

Rare Variants In Bmal1 Are Associated With A Neurodevelopmental Syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U Rehman, Carol Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W Scherer, Ingo Helbig, Amita Sehgal

Duncan NRI Faculty and Staff Publications

Children with neurodevelopmental disorders exhibit highly penetrant sleep and circadian dysfunction, but the underlying mechanisms are unclear. We asked whether a subset of individuals with neurodevelopmental disorders might have genetic variants in genes known to drive circadian rhythms. Through international collaboration, we identified ten individuals with very rare genetic variants in BMAL1, a core component of the molecular clock. These individuals exhibited overlapping signs and symptoms including developmental delay, autism spectrum disorder, and variably penetrant marfanoid features. We functionally tested the identified BMAL1 variants in cell culture and in vivo and found disrupted BMAL1 function. These findings demonstrate that …

Rsph4a-Pcdx: An Index To Predict Lung Function Decline In Primary Ciliary Dyskinesia, Gabriel Román-Ríos, Gabriel Rosario-Ortiz, Marcos J Ramos-Benitez, Ricardo A Mosquera, Wilfredo De Jesús-Rojas

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that impairs mucociliary clearance and leads to progressive lung disease. This study aimed to characterize lung function decline in a genetically homogeneous cohort of Puerto Rican patients with

High Risk Of Drug-Resistant Tuberculosis In Igra-Negative Contacts: Should Preventive Treatment Be Considered?, Thomas Theo Brehm, Niklas Köhler, Hans-Peter Grobbel, Jürgen Welling, Anna Maria Mandalakas, Vinicius Fava, Erwin Schurr, Christoph Lange

Faculty, Staff and Students Publications

Purpose: Deciding whether to provide preventive treatment to contacts of individuals with multidrug-resistant (MDR) tuberculosis is complex.

Methods: We present the diagnostic pathways, clinical course and outcome of tuberculosis treatment in eight siblings from a single family. Tuberculosis disease was diagnosed by Mycobacterium tuberculosis culture and molecular detection of M. tuberculosis-specific DNA from bronchopulmonary specimens using GeneXpert® MTB/RIF. M. tuberculosis infection was diagnosed by an interferon-gamma release assay (IGRA; QuantiFERON®-TB Gold Plus). Whole exome sequencing for genetic predisposition to mycobacterial infection was performed in one patient.

Results: Six of eight siblings aged 16-20 years from a migrant family of Somali …

Relapse Patterns Among Children And Adolescents With Kaposi Sarcoma In Malawi, Toni Chanroo, Allison Silverstein, Casey L Mcatee, William Kamiyango, Jimmy Villiera, Parth S Mehta, Erin Peckham-Gregory, Mark Zobeck, Michael E Scheurer, Carl E Allen, Rizine Mzikamanda, Nmazuo W Ozuah, Nader Kim El-Mallawany

Faculty, Staff and Students Publications

Kaposi Sarcoma (KS) is a common childhood cancer in Malawi, but few studies have exploredclinical characteristicsofrelapsed disease. We aimed to characterize clinical patterns of relapse to improve treatment and, ultimately, long-term survival in patients with pediatric KS.A retrospective cohort study was conducted among patients ages < 19 years of age at time of KS diagnosis in Lilongwe, Malawi between August 1, 2010 and March 15, 2020. Specifically, emphasis was placed on patients who had relapsed disease and excluded patients with refractory disease or those who died whilst receiving front-line treatment. Salvage therapy typically involved an intensified chemotherapy regimen compared to front-line therapy—namely nonliposomaldoxorubicin plus bleomycin/vincristine or paclitaxel monotherapy.One-hundred and ninety patients with pediatric KS were included in this analysis, 50 of whom experienced relapse (26%).Older median age was associated with occurrence of relapse (10 vs 6.7 years, p-value = 0.004). Median time from diagnosis to first relapse was 10.6 months (range 2.3–49 months). Three-year post-relapse overall survival (OS) for the entire cohort was 60% with a median follow-up time of 4.7 years after relapse.Survival was significantly higher for patients who relapsed with the woody edema clinical phenotype of pediatric KS versus those with visceral/disseminated disease—3-year OS 79% (95% CI 62–100) versus 29% (14–61).These data demonstrate potential for continued survival after KS relapse in the pediatric population and identify subsets of high-risk patients. The higher mortality observed in patients with visceral/disseminated KS highlights the need for improved therapeutic strategies.