Medicine and Health Sciences Commons^™

Smaller Right Ventricle Results In Poorer Exercise Performance In Young Patients With Repaired Tetralogy Of Fallot, Christiane Mhanna, Katerina Kourpas, Takeshi Tsuda

Department of Pediatrics Faculty Papers

BACKGROUND: Severe right ventricular (RV) dilatation and exercise intolerance are considered indications for pulmonary valve replacement in surgically repaired tetralogy of Fallot (rTOF).

METHODS AND RESULTS: Cardiopulmonary exercise testing (CPET) and cardiac magnetic resonance (CMR) were performed in rTOF patients with pulmonary insufficiency (PI). Oxygen pulse (OP), calculated as oxygen consumption (V̇O

CONCLUSIONS: A smaller RV was associated with worse exercise performance, indicating exercise intolerance is independent of RV dilatation in young rTOF with PI and represents a unique pathological entity responsible for reduced exercise performance.

Childcare Challenges Among Surgical Trainees And Faculty: A Single-Institution Study, Emma G Burke, Sarah Peiffer, Melissa Koci, Lindsay Dean, Kristy L Rialon, Michele Loor, Alice King

Faculty, Staff and Students Publications

Background: Previous studies have demonstrated the challenges of parenthood in surgical training and careers. However, certain aspects of childrearing for surgeons remain understudied. We aim to leftacterize the complexity and costs of childcare amongst surgical trainees and faculty.

Methods: An anonymous, self-administered survey was conducted within the Department of Surgery at a large academic medical center. Both male and female trainees and faculty were included in the analysis. Chi-square or Fisher's Exact test was performed.

Results: Forty-six respondents provided information about childcare costs, with 37% of respondents being residents or fellows. Trainees worked longer workhours (p = 0.003) than their …

Urobiome Composition Varies With Vesicoureteral Reflux Grade And History Of Febrile Urinary Tract Infection, Theresa C. Barrett, Kelvin Li, Adam Fitch, Asha Patel, Bhanu Sharma, Jacqueline Holden, Kermina Abdelsayed, Nina N. Kowalewski, Sridhar Narla, Daniel Bushnell, Barbara A. Methé, Catherine S. Forster

Department of Medicine Faculty Papers

Vesicoureteral reflux (VUR) is a risk factor for urinary tract infection (UTI). However, data describing the urobiome in children with VUR are limited. Here, we characterized the urobiome in children with and without VUR to better understand its potential role in VUR pathogenesis. Catheterized urine samples were obtained from children who presented for voiding cystourethrogram (VCUG) between 12/1/2020 and 10/3/2023. Children were excluded if they had any surgical procedures of the genitourinary tract in the 30 days prior to VCUG or were on treatment antibiotics at the time of VCUG. 16S rRNA gene sequencing and taxonomical classification identified the urobiome. …

Pediatric Home-Based Hospice And Palliative Care: A Scoping Review, Ellen Davis, Daniel H Grossoehme, Toluwalase Ajayi, Justin N Baker, Pamela S Hinds, Lisa Humphrey, Jill Ann Jarrell, Rachel Thienprayoon, Sarah Friebert

Faculty, Staff and Students Publications

Pediatric palliative and/or hospice care is provided across a broad spectrum of settings, ranging from inpatient to outpatient to a child's home. Pediatric home-based hospice and/or palliative care teams offer a specialized, interdisciplinary approach to care, allowing children to stay in the home while offering comprehensive support. This scoping review seeks to summarize what is known about pediatric home-based hospice and/or palliative care and to identify gaps in the current research. Following Arskey and O'Malley's scoping review framework, we searched four databases for studies focused on pediatric home-based hospice and/or palliative care programs. Studies were included if they were published …

Subclinical Neuropsychiatric Trait Variation In Parents Of Children With Autism Spectrum Disorder: A Cohort Study, Lindsay J Mullin, Carolyn Lasch, Natasha Marrus, Et Al.

2020-Current year OA Pubs

BACKGROUND: Many neuropsychiatric conditions share overlapping features underpinned by shared genetics. In this study, we examined the co-aggregation of sub-threshold variation in neuropsychiatric phenotypes in biological parents of autistic children to provide insights into the intergenerational transmission of genetic liability for autism.

METHODS: Autistic, neuropsychiatric (i.e., anxiety, depression, ADHD), and cognitive traits were characterized in biological parents of children enrolled in a longitudinal developmental study: 189 families of autistic children and 100 families with no autistic children were included. Families were further characterized as having only one (simplex) or more than one (multiplex) autistic child. Maternal and paternal traits were …

Incorporating The Use Of Puppets And Puppetry-Based Approaches In Nutrition: A Scoping Review Of Interventions, Basil H. Aboul-Enein, Nada Benajiba, Majd Jan, Sarah Ali Alasmari, Patricia J. Kelly, Stephen F. Gambescia, Elizabeth Dodge

College of Nursing Faculty Papers & Presentations

Puppetry-based activities could serve as a low cost and manageable intervention in improving health-related outcomes. This review aims to identify the research to date and gaps in practice of the role and application of puppetry interventions in nutrition education. A scoping review was conducted using the PICOS framework and PRISMA-ScR guidelines, identifying studies across eight databases between January, 1980 and July, 2025.Twenty-five studies were identified, with the majority (n = 19) aimed at pre-school and school-aged children. Fifteen studies used quasi-experimental, pre-post designs. The use of hand and finger puppets was common, as well as videos and puppet theatre. …

Smart Pediatric Oncology Tracker Of Symptoms (Spots), A Web-Based Interface For The Pediatric Pro-Ctcae: Development And Usability Study, Stacey Crane, Deevakar Rogith, Melody Hellsten, Andrew D Miller, Jacqueline Castillo, Brandy Boeger, Susan Vidaurre, Stefanie Pieper, Cecile Nguyen, Duc Anh Thanh Huynh, Jessica Wooden, Amy Franklin, Karen Moody, Wenyaw Chan, Pamela S Hinds, Constance Johnson

Faculty, Staff and Student Publications

Background: Children undergoing cancer treatment experience a range of treatment-related toxicities that significantly affect quality of life and adherence to therapy. Current methods for symptom reporting rely heavily on clinician interpretation of caregiver or child verbal reports, which can result in incomplete or inaccurate records. The Pediatric Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (Pediatric PRO-CTCAE; National Cancer Institute) provides a validated mechanism for direct symptom reporting by children and caregivers, yet its traditional administration and preselection of questions limit the breadth of symptom capture.

Objective: This research aimed to co-design and conduct formative usability testing …

Natural History Of Ngly1 Deficiency: Motor Function & Clinical Features, Grace Morrison, Selina Dwight, Hal Landy, William F Mueller, Pam Ventola, Regina Deck, Becky Schweighardt, Matt Wilsey, Kevin J Lee, Bernhard Suter

Faculty, Staff and Students Publications

N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected patient population. Its core clinical features include global developmental delay, hyperkinetic movement disorders, elevation of liver transaminases, (hypo)alacrima, and progressive sensorimotor neuropathy. Due to the range of phenotypes and severity within the confirmed patient population, ongoing characterization of the disease is critical. A prospective natural history study (NHS) was conducted to further elucidate disease phenotypes and examine any changes in neurocognitive or motor function over a one-year period. Fifteen …

Pharmacogenomic-Guided Prescribing And Polypharmacy Across Age Groups In Obsessive-Compulsive Disorder: A Retrospective Study, Sheldon R Garrison, Matthew W Boyer, Anthony W Zoghbi, Rachel A Schwartz, Nicolette Weisensel, Martin E Franklin, Madeline M Hartig, Maharaj Singh, Sreya Vadapalli

Faculty, Staff and Students Publications

Background: This study evaluated medication utilization in children, adolescents, and adults with obsessive-compulsive disorder (OCD), a chronic psychiatric condition characterized by intrusive thoughts and repetitive behaviors. Although first-line treatments include selective serotonin reuptake inhibitors (SSRIs) and cognitive behavioral therapy (CBT), the heterogeneous biological underpinnings contribute to suboptimal outcomes, with 40-60% of individuals not responding to SSRIs. This complex phenotype often leads to psychotropic polypharmacy, which may be mitigated by incorporating combinatorial pharmacogenomic (PGx) testing into protocol-based care to identify potential gene-drug interactions.

Methods: A retrospective review was conducted of individuals with OCD aged 8 to 65 years who received either …

Securepose: Automated Face Blurring And Human Movement Kinematics Extraction From Videos Recorded In Clinical Settings, Rishabh Bajpai, Bhooma Aravamuthan

2020-Current year OA Pubs

Movement disorder diagnosis often relies on expert evaluation of patient videos, but sharing these videos poses privacy risks. Current methods for de-identifying videos, such as blurring faces, are often manual, inconsistent, or inaccurate. Furthermore, these methods can compromise automated kinematics extraction-a valuable aid to movement analysis. To address these challenges, we developed SecurePose, open-source software that provides both reliable de-identification and automated body kinematic extraction from videos recorded in clinic settings using smartphones/tablets. We validated SecurePose on gait videos recorded in outpatient clinic visits of 116 children with cerebral palsy, assessing both the accuracy of its de-identification compared to the …

Structural Brain Differences Associated With Panic Disorder: An Enigma-Anxiety Working Group Mega-Analysis Of 4924 Individuals Worldwide, Laura K M Han, Willem B Bruin, Janna Marie Bas-Hoogendam, Nynke A Groenewold, Kevin Hilbert, Anderson M Winkler, Andre Zugman, Takeshi Asami, Jacques P Barber, Francesco Benedetti, Robert J R Blair, Joscha Böhnlein, Paolo Brambilla, Fabian Breuer, Randy L Buckner, Robin Bülow, Monica E Calkins, Natalia Chechko, Udo Dannlowski, Katharina Dohm, Katharina Domschke, Thomas Dresler, Angelika Erhardt-Lehmann, Gregory A Fonzo, Andreas J Forstner, Hans J Grabe, Dominik Grotegerd, Raquel E Gur, Ruben C Gur, Catherine Harmer, David Hofmann, Odile A Van Den Heuvel, Neda Jahanshad, Tilo T J Kircher, Katharina Koch, Max A Laansma, Till Langhammer, Sang-Hyuk Lee, Elisabeth J Leehr, Eleonora Maggioni, Claire E Marino, Susanne Meinert, Hannah Meinert, Barbara Milrod, Benson Mwangi, Jared A Nielsen, Patricia Ohrmann, Spiro P Pantazatos, Martin P Paulus, Brenda W J H Penninx, Sara Poletti, Andrea Reinecke, Isabelle C Ridderbusch, Pavel Rjabtsenkov, Philipp G Sämann, Theodore D Satterthwaite, Lianne Schmaal, Elisabeth Schrammen, Jair C Soares, Nili Solomonov, Murray B Stein, Benjamin Straube, Thomas Straube, Benjamin Suarez-Jimenez, Jordan W Smoller, Ardesheer Talati, Sophia I Thomopoulos, Carlos E Vazquez, Henry Völzke, Katharina Wittfeld, Mon-Ju Wu, Yunbo Yang, Giovana B Zunta Soares, Ulrike Lueken, Paul M Thompson, Daniel S Pine, Dan J Stein, Nic J A Van Der Wee, Dick J Veltman, Moji Aghajani

Faculty, Staff and Student Publications

Neuroanatomical findings on panic disorder (PD) are typically difficult to replicate, with inconsistent effects. These concerns prompted a paradigm shift towards large-scale collaborations, focused on harmonized data extraction and processing for robust examination of PD brain correlates. Hence, leveraging the largest-ever multi-site neuroimaging database on PD (Age: 10–66 years; global sites: 28), compiled by the ENIGMA-Anxiety Working Group, we report on cortical and subcortical differences in individuals with PD (N = 1146) versus healthy controls (HC: N = 3778). The analyses revealed lower thickness and smaller cortical surface area within fronto-temporo-parietal regions in PD (Cohen’s ds: −0.08–0.13), along with lower …

Population Pharmacokinetics And Dosing Simulations Of Pentobarbital In The Pediatric Population, Victoria Etges Helfer, Lorena Medina-Aymerich, William J. Muller, Marisa Meyer, Amira Al-Uzri, Russell Mcculloh, Chi D. Hornik, Stephen J. Balevic, Rachel G. Greenberg, Daniel K. Benjamin, Sarah G. Anderson, Daniel Gonzalez

Department of Pediatrics Faculty Papers

Pentobarbital is a barbiturate with sedative and anticonvulsant properties, occasionally used in pediatric patients for preoperative sedation, deep sedation during mechanical ventilation, and seizure control. Despite its long-standing clinical use, age-appropriate dosing remains challenging due to variability across studies and limited pediatric pharmacokinetic (PK) data. This study (NCT01431326) aimed to characterize the population pharmacokinetics of pentobarbital in pediatric patients (birth to 21 years) and evaluate dosing strategies using model-based simulations. A two-compartment population PK model, allometrically scaled to total body weight, adequately described pentobarbital plasma concentrations, with no additional covariates identified as significant. Simulations were conducted across four age groups: …

Safety And Efficacy Of Individualised Exercise And Nad+ Precursor Supplementation In Patients With Friedreich’S Ataxia In The Usa: A Single-Centre, 2 × 2 Factorial, Randomised Controlled Trial, Kimberly Lin, Anna Bucha, Kara Mcsweeney, Kristin Wade, Antoneta Karaj, Jaclyn Tamaroff, Shannon O'Malley, Nicole Chung, Nicolette Cilenti, Julianne Wanner, Gabriel Adzika, Clementina Mesaros, Ian Blair, Teerapat Rojsajjakul, Suraj Serai, Jennifer Farmer, Kyle Bryant, Yingying Lu, Michael Harhay, David Weber, Stephen Paridon, Erin Seifert, Mary Putt, Payman Zamani, Joseph Baur, David Lynch, Shana Mccormack

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND:Friedreich's ataxia is a rare, chronic, progressive, neurodegenerative condition affecting multiple organ systems, including neurological, musculoskeletal, cardiac, and endocrine systems, and is marked by low cardiopulmonary fitness. We tested the effect of exercise and NAD⁺ precursor supplementation with nicotinamide riboside, which have each shown benefits in animal and early clinical studies, on cardiopulmonary fitness in individuals with Friedreich's ataxia.

METHODS: This 12-week, outpatient, phase 2, single-site (Children's Hospital of Philadelphia, Philadelphia, PA, USA), randomised, 2 × 2 factorial clinical trial recruited individuals aged 10–40 years with an ejection fraction of 45% or greater who were able to exercise. A …

Phenotypic Diversity And Outcomes In Pediatric Nmda Receptor Encephalitis: A 15-Year Retrospective Study From The Largest Children's Hospital In The United States, Alexander J Sandweiss, Timothy Erickson, Yike Jiang, Varun Kannan, Jonathan M Yarimi, Kristen S Fisher, Nikita Shukla, Tim Lotze, Eyal Muscal, Kristy O Murray

Faculty, Staff and Students Publications

Anti‐NMDAR encephalitis (NMDARE) is an autoantibody‐mediated disorder characterized by seizures, movement disorders, neurocognitive deficits, and psychosis, but the complete phenotypic heterogeneity, and outcomes are incompletely understood in children. This single‐center retrospective analysis of NMDARE at the largest pediatric hospital in the United States between 2009 and 2024 screened 115 patients diagnosed with NMDARE. 103 had sufficient clinical data available for analyses. Two‐thirds were Hispanic, disproportionate to the Houston metro area demographics, and Hispanic patients had a higher CSF white cell count and antibody titer. Approximately one‐half of the patients with idiopathic NMDARE presented with a focal cortical phenotype that localized …

Racial, Ethnic, And Neighborhood Disparities In Acute Kidney Injury In Pediatric Acute Leukemia, Wendy C Bravo, Yimei Li, Tamara P Miller, Kelly Getz, Lusha Cao, Edward Krause, Mark Ramos, Judy Lee, Maria Monica Gramatges, Karen R Rabin, Michael Scheurer, Richard Aplenc, Michelle Denburg

Faculty, Staff and Students Publications

Introduction: We sought to identify racial/ethnic and neighborhood disparities in acute kidney injury (AKI) in children with acute lymphoblastic or myeloid leukemia (ALL, AML).

Methods: Electronic health record data were retrospectively collected from patients treated for de novo pediatric ALL or AML in the multicenter Leukemia Electronic Abstraction of Records Network. AKI was defined by modified Kidney Disease Improving Global Outcomes criteria. Neighborhood-level resources were defined by the Child Opportunity Level (COL). Prevalence ratios (PRs) for AKI at diagnosis by race/ethnicity and COL were calculated using modified Poisson regression. Cox regression was used to calculate hazard ratios (HRs) of first …

Interplay Between Genetic Ancestry, Self-Reported Race And Ethnicity, And Clinical Factors In Pediatric Acute Lymphoblastic Leukemia: A Redial Consortium Report, Pragati Kore, Jennifer M Geris, Maria Leon-Camarena, Maria I Castellanos, Olga A Taylor, Veronica Garcia-Morales, Austin L Brown, Pagna Sok, Jeremy M Schraw, Van Huynh, Kathleen F Ludwig, Laura J Klesse, Sandi L Pruitt, Amy E Hughes, Kevin Tien, Kenneth M Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Maria M Gramatges, Elizabeth G Atkinson, Philip J Lupo, Michael E Scheurer, Karen R Rabin

Faculty, Staff and Students Publications

Background: Pediatric acute lymphoblastic leukemia (ALL) is the most common cancer in children, and its incidence and outcomes vary by race and ethnicity.

Methods: The Reducing Ethnic Disparities in Acute Leukemia (REDIAL) Consortium has assembled a cohort of patients < 25 years at diagnosis to examine genetic and neighborhood-level factors influencing ALL. As the cohort is ongoing, for this report, we examined sociodemographic and cytogenetic factors that might be associated with ALL outcome disparities.

Results: Among 2,512 patients diagnosed between 2005 and 2020, we observed distinct patterns of genetic ancestry and residential characteristics across self-reported race and ethnicity. Latino children, who comprised 55.3% of the cohort, had a mean Amerindigenous ancestry proportion of 50.9%, whereas non-Latino White children exhibited a predominantly European ancestry (mean = 78%). Neighborhood-level analysis revealed significant socioeconomic and geographic differences by …

Risk Factors For The Development Of Food Allergy In Infants And Children: A Systematic Review And Meta-Analysis, Nazmul Islam, Alexandro W L Chu, Falana Sheriff, Farid Foroutan, Gordon H Guyatt, Romina Brignardello-Petersen, Paul Oykhman, Alfonso Iorio, Ariel Izcovich, Katherine M Morrison, Yetiani Roldan Benitez, Rachel J Couban, Dorota Borovsky, Yiming Zhang, Leonardo Ologundudu, Keerthana Pasumarthi, Syed Fahad Farooq, Kyle Tong, Wang-Choi Tang, Haseeb Faisal, Muhammad Faran Khalid, Mohammad Saad Asif, Shannon French, Susan Waserman, R Sharon Chinthrajah, Hugh A Sampson, S Shahzad Mustafa, Jay A Lieberman, Kirsi M Järvinen, Sally Bailey, Philippe Bégin, Scott H Sicherer, Jennifer Gerdts, Melanie Carver, Lynda Mitchell, Kelly Cleary, Matthew J Greenhawt, Julie Wang, Aikaterini Anagnostou, Marcus S Shaker, Anita Chandra-Puri, Patricia C Fulkerson, Robert A Wood, Derek K Chu

Faculty, Staff and Students Publications

Importance: The incidence and risk (predictive) factors for early life food allergy development remain uncertain.

Objective: To estimate the incidence and quantify risk factors for food allergy development.

Data sources: MEDLINE and Embase were systematically searched to January 1, 2025. Data were analyzed from June 1, 2025, to November 25, 2025.

Study selection: Incidence estimates included studies confirming food allergy via food challenge. Risk factor analyses included cohort, case-control, and cross-sectional studies in any language assessing children younger than 6 years using multivariable analyses.

Data extraction and synthesis: Paired reviewers independently extracted data. Random-effects meta-analyses pooled incidence and adjusted odds …

Optical Coherence Tomography As An Emerging Technique For Identifying Pediatric Middle Ear Effusion, Roger Neuberger, Jeffrey Carter, Adriana Dives, Ana Sofia C Ibarrola, Maritsa Ixba, Elton Lambert, Yi-Chun Liu, Anna H Messner

Faculty, Staff and Students Publications

Objective: Acute otitis media (AOM) and otitis media with effusion (OME) rely on accurate characterization of middle ear effusion (MEE). Optical coherence tomography (OCT) is a potential modality for noninvasive analysis of MEE, thereby assisting with otitis media diagnosis. This study aims to compare the diagnostic performance of OCT with otoscopy and tympanometry in pediatric patients.

Methods: A prospective convenience sample of 164 pediatric patients aged 6 months to 12 years was recruited from two tertiary care pediatric otolaryngology clinics. During their visit, each child underwent otoscopy, tympanometry, and OCT evaluation. Scans were reviewed by both a fellowship-trained pediatric otolaryngologist …

Derivation And Validation Of The Pediatric Community-Acquired Pneumonia Severity (Pedcaps) Score: A Prospective Cohort Study, Todd A Florin, Ron Reeder, Lilliam Ambroggio, Richard M Ruddy, Samir S Shah, Allison Cator, Matthew J Lipshaw, Geoffrey A Capraro, Laura F Sartori, Amy Y Cheng, Leah Tzimenatos, Patrick S Walsh, Claudia R Morris, Chris A Rees, Son H Mclaren, Tamar R Lubell, Chari D Larsen, Justin Moher, Eileen J Klein, Shubhada Hooli, Nathan Kuppermann

Faculty, Staff and Students Publications

Introduction: Community-acquired pneumonia (CAP) is a frequent and costly cause of pediatric emergency department (ED) visits and hospitalizations. Previous prognostic tools for CAP are limited by small samples, single-center or retrospective designs, lack of generalizability to ED settings, lack of biomarkers, or limited objective data. To overcome these limitations, we will derive and externally validate a prediction rule for pediatric CAP severity in a large, multicenter prospective cohort.

Methods: This is a prospective cohort study of children 3 months to 18 years old with CAP who present to EDs within the Pediatric Emergency Care Applied Research Network. Enrollment began 8/2023 …

The Impact Of Tracheal Intubation Attempts On Chest Compression Fraction During Pediatric Cpr: A Report From The Videography In Pediatric Resuscitation (Viper) Collaborative, Theerapon Jariyasakoolroj, Karen O'Connell, Thomas Macdonald, John Breslin, Jennifer Murphy, Crystal Macdonald, Tara Neubrand, Laura Rochford, Sage Myers, Benjamin Kerrey, Aaron Donoghue

Faculty, Staff and Students Publications

Aim: To examine the association between tracheal intubation (TI) attempts and chest compression (CC) pauses on chest compression fraction (CCF) during pediatric CPR across a network of emergency departments.

Methods: Prospective observational cohort by the Videography in Pediatric Resuscitation (VIPER) Collaborative. Videorecorded CPR events were reviewed to measure CC pauses and characterize TI attempts. CCF was calculated as the proportion of time compressions were delivered during each event. Events were categorized based on whether TI-associated pauses occurred, and CCF was compared using Wilcoxon rank-sum testing.

Results: A total of 183 CPR events were included. The median event duration was 971 …

Promises, Pitfalls, And Paths Forward For The Pediatric Research Equity Act., Alexa L. Pagano, Danielle J. Green, Jennifer Goldman, Anjali Deshmukh

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Since its enactment in 2003, the Pediatric Research Equity Act (PREA) has significantly increased the number of pediatric drug studies performed and expanded pediatric drug labeling. Despite these advancements, many drugs used in children still lack pediatric-specific US Food and Drug Administration (FDA) labeling, even when pediatric studies are required by law. Recent legislative changes strengthened the FDA's enforcement authority over PREA. As these changes are implemented, persistent gaps in pediatric drug development warrant examination. Addressing these gaps may help ensure that children are systematically included in clinical research and that medications used in children are supported by rigorous …

The Dietary Management Of Sodium In Children With Kidney Diseases-Clinical Practice Recommendations From The Pediatric Renal Nutrition Taskforce., José Renken-Terhaerdt, An Desloovere, Michiel Js Oosterveld, Nonnie Polderman, Evelien Snauwaert, Stella Stabouli, Johan Vande Walle, Caroline Anderson, Sheridan Collins, Larry A. Greenbaum, Matthew Harmer, Lyndsay Harshman, Christina L. Nelms, Pearl Pugh, Vanessa Shaw, Jetta Tuokkola, Molly R Wong Vega, Bradley A. Warady, Rukshana Shroff, Fabio Paglialonga

Manuscripts, Articles, Book Chapters and Other Papers

Sodium imbalance is a common concern in children with kidney diseases, presenting as either sodium excess or sodium deficit, each with significant clinical implications. Sodium excess contributes to fluid overload and hypertension, while increased sodium losses, particularly via urine or peritoneal fluid, can predispose patients to hypotension and growth failure. Effective sodium management is thus a critical component of care in pediatric kidney diseases, with dietary sodium intake playing a pivotal role in maintaining homeostasis. The Pediatric Renal Nutrition Taskforce (PRNT) has developed clinical practice recommendations (CPRs) for dietary sodium management in children with kidney diseases, addressing key aspects of …

Regional Variation Of Underlying Kidney Diseases In Children Undergoing Chronic Kidney Replacement Therapy Around The Globe., Dagmara Borzych-Dużałka, Marjolein Bonthuis, Uma Ali, Yok-Chin Yap, Michael Manno, Yihui Zhai, Reyner Loza, Seema Hashmi, Naye Choi, Kenza Soulami, Judith Exantus, Mohamed S. Al Riyami, Sameh Mabrouk, Marbella Ma Angeles, Cristina Zelaya-Camacho, Henny Adriani Puspitasari, Syed Saimul Huque, Francisco Cano, Kar Hui Ng, Sevcan A. Bakkaloğlu, Jerome Harambat, Kitty J. Jager, Bradley A. Warady, Franz Schaefer

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: There is a scarcity of information regarding the distribution of the diseases leading to kidney failure (KF) in children living in the emerging world. We used registry data to provide a global overview of the underlying disease spectrum in children commencing kidney replacement therapy (KRT).

METHODS: We analyzed KF causes among 23,620 children and adolescents commencing maintenance KRT in 80 countries, using data from the IPNA Global KRT Registry (including ESPN/ERA Registry), the International Pediatric Dialysis Network (IPDN), the United States Renal Data System (USRDS), and the Australia and New Zealand Dialysis and Transplant Registry (ANZDATA). The analysis considered …

Ai-Powered Insights In Pediatric Nephrology: Current Applications And Future Opportunities., Arwa Nada, Yamen Ahmed, Jieji Hu, Darcy K. Weidemann, Gregory H. Gorman, Eva Glenn Lecea, Ibrahim A. Sandokji, Stephen Cha, Stella Shin, Salar Bani-Hani, Sai Sudha Mannemuddhu, Rebecca L. Ruebner, Aadil Kakajiwala, Rupesh Raina, Roshan George, Rim Elchaki, Michael L. Moritz, The American Society Of Pediatric Nephrology Quality Improvement And Artificial Intelligence (Aspn Qi/Ai) Interest Group

Manuscripts, Articles, Book Chapters and Other Papers

Artificial intelligence (AI) is rapidly emerging as a transformative force in pediatric nephrology, enabling improvements in diagnostic accuracy, therapeutic precision, and operational workflows. By integrating diverse datasets-including patient histories, genomics, imaging, and longitudinal clinical records-AI-driven tools can detect subtle kidney anomalies, predict acute kidney injury, and forecast disease progression. Deep learning models, for instance, have demonstrated the potential to enhance ultrasound interpretations, refine kidney biopsy assessments, and streamline pathology evaluations. Coupled with robust decision support systems, these innovations also optimize medication dosing and dialysis regimens, ultimately improving patient outcomes. AI-powered chatbots hold promise for improving patient engagement and adherence, while …

High Concordance Of Physician-Attestation With Manual Data Abstraction For Sickle Cell Type: An Ash Rc Data Hub Study, Alexis Thompson, Ashima Singh, Donna Neuberg, Amanda Brandow, Allison King, Sophie Lanzkron, Emily Semmel, Sam Walters, Susan Rogers, Kathleen Torres, William Wood

Cardeza Foundation for Hematologic Research

Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. The American Society of Hematology Research Collaborative (ASH RC) has built an SCD Data Hub (DH) to facilitate research and quality improvement using real-world data. To our knowledge, we report here the first analyses from the DH, focusing on cohort demographics and accurate identification of SCD diagnosis type. DH sites have data use agreements with ASH RC to extract and transfer electronic health record (EHR) data at least quarterly. Principal investigators (PI) provided additional attestation of SCD diagnosis based on existing local data sources deemed …

High Concordance Of Physician-Attestation With Manual Data Abstraction For Sickle Cell Type: An Ash Rc Data Hub Study, Alexis A Thompson, Ashima Singh, Donna S Neuberg, Amanda M Brandow, Allison A King, Sophie Lanzkron, Emily A Semmel, Sam Walters, Susan Rogers, Kathleen Torres, William A Wood

2020-Current year OA Pubs

Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. The American Society of Hematology Research Collaborative (ASH RC) has built an SCD Data Hub (DH) to facilitate research and quality improvement using real-world data. To our knowledge, we report here the first analyses from the DH, focusing on cohort demographics and accurate identification of SCD diagnosis type. DH sites have data use agreements with ASH RC to extract and transfer electronic health record (EHR) data at least quarterly. Principal investigators (PI) provided additional attestation of SCD diagnosis based on existing local data sources deemed …

High-Precision Automated Bone Age: A Clinically Useful Tool In Monitoring Of Treatment Effects In Children And Adolescents, Hans Henrik Thodberg, Lise Aksglaede, Anders Juul, Shanlee M. Davis, Judith L. Ross

Department of Pediatrics Faculty Papers

The clinical value of serial bone age (BA) determinations in children during growth is limited by the manual rater variability (precision 0.63 years). The objective of this work was to determine the precision of automated bone age and bone health index (BHI) measurements by BoneXpert and to establish the time interval at which the automated method can detect a significant treatment effect. The data were from a case-control trial (oxandrolone/placebo) following 90 boys with Klinefelter syndrome (KS) with five visits over 2 years, recording X-rays of both hands. The precision of BA was 0.08 years [0.07; 0.09] 95% CI, leading …

Pediatric Thyroid Cancer Lung Metastases And Rai: Long-Term Results, Ryan C Mueller, Nikhil Rammohan, Anthony J Apicelli, Ana Maria Arbelaez, Farrokh Dehdashti, Barry A Siegel, Vikas Prasad, Perry W Grigsby, Stephanie Markovina

2020-Current year OA Pubs

OBJECTIVES: Children with differentiated thyroid cancer (DTC) often present with lung metastases but historically have good outcomes. Radioactive iodine (RAI) is commonly used to treat these children. Given the rarity of this condition, little evidence detailing long-term outcomes and risk of radiation pneumonitis exists.

METHODS: We conducted a retrospective analysis of patients < 20 years old who received RAI for DTC lung metastases between 1973 and 2018. Disease-free survival (DFS) was calculated from diagnosis to last follow-up. Overall survival and rates of acute and late radiation pneumonitis were determined by chart review and obituary searches.

RESULTS: Sixteen patients met eligibility criteria. Fourteen presented with thyroid, nodal, and lung disease; one presented with thyroid and nodal disease with nodal and lung recurrence; and one presented with thyroid-only disease with nodal and lung recurrence. All patients underwent thyroidectomy, 10 underwent neck dissection, and four underwent …

Sex-Aware Genome-Wide Assessment Of De Novo Variants In Autism Across Coding And Noncoding Regions, Tychele N Turner

2020-Current year OA Pubs

BACKGROUND: Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs in > 41,000 parent–child sequenced trios from three ASD family-based cohorts and compared DNV characteristics and enrichment patterns in males and females. Notably, these trios included individuals with ASD as well as those without ASD. I developed a new sex-aware DNV caller (HAT-FLEX) and thoroughly evaluated each candidate DNV using an additional tool introduced in this study, SNOW, to generate a high-confidence callset. RESULTS: I identified enrichment of missense and loss-of-function (LOF) …

Cardiovascular Disease And Dyslipidemia In Pediatric Type 1 Diabetes, Grace K Kim, Preneet Cheema Brar, Nidhi Bansal

Faculty, Staff and Students Publications

Purpose of review

Despite advances in type 1 diabetes (T1D) management, mortality is still increased, with cardiovascular disease (CVD) as the leading cause. Dyslipidemia is a highly prevalent modifiable CVD risk factor. We reviewed the existing literature on CVD mortality in T1D to highlight CVD risk in pediatric patients with T1D.

Recent findings

Pathophysiology of T1D and premature CVD risk is still not fully understood. Dyslipidemia remains a highly prevalent and undertreated CV risk factor in T1D. Statins have been shown to be safe and effective to improve CVD risk in adults with T1D, and in children with familial hypercholesterolemia, …