Pediatrics Commons^™

Multimodal Cardiac Imaging Of Immune-Mediated Complications Post Heart Transplantation: A Contemporary Review, Bruno Bezerra Lima, Tam T Doan, Atilla Feher, James C Wilkinson, Marvin W Kronenberg, Chloe Carr, Malek Nayfeh, Tania Ruiz, Luke L Laws, Melissa Lou Silva, John A Wells, Leandro Slipczuk, Emily T Lippincott, John J Carr, Kaushik Amancherla, Cameron Henry, David Parra, Kelly Schlendorf, Quinn S Wells, Sean G Hughes, Jonathan Soslow

Faculty, Staff and Students Publications

Heart transplantation significantly enhances survival and quality of life for patients with end-stage heart failure. Despite advances in surgical and postoperative care, immune-mediated complications, acute graft rejection and cardiac allograft vasculopathy (CAV), remain major barriers to long-term success. Acute rejection predominantly affects early posttransplant survival, whereas CAV becomes a leading cause of mortality in later years. The gold standards for diagnosis, endomyocardial biopsy for rejection and coronary angiography for CAV, are invasive and imperfect. Noninvasive multimodality imaging is increasingly used to complement or, in selected scenarios, defer invasive testing. Echocardiography with strain detects early myocardial dysfunction when ejection fraction is …

Possible Involvement Of Keratinocyte-Derived Microvesicle Particles In Human Photosensitivity Disorders, Risha Annamraju, Madison S. Owens, Anita Thyagarajan, Danielle A. Corbin, Catherine M.T. Sherwin, Jade Bryant, Garrett W. Fisher, Winston R. Owens, Alycia Ketter, Craig A. Rohan, Michael G. Kemp, Robyn K. Crow, Jeffrey B. Travers

Pediatrics Faculty Publications

BACKGROUND: Previous murine studies have implicated acid sphingomyelinase-(aSMase) generated subcellular microvesicle particles (MVP) in photosensitivity. Objective: The current double-blinded placebo-controlled studies examined if a single localized ultraviolet B radiation (UVB) treatment generated more MVP in human subjects with self-identified photosensitivity versus normal controls. A topical 4% formulation of the aSMase inhibitor imipramine applied immediately after UVB blocked the MVP release and erythema responses. Erythema responses at 24 and 72 h in response to multiple UVB fluences and minimal erythema doses (MED) at 24 h and effects of imipramine were also tested.

RESULTS: Small cohorts of 10 adult self-identified photosensitive subjects …

Barriers And Facilitators To Lifestyle Behavior Change And Goal Setting In Adolescents With Polycystic Ovary Syndrome., Manasa Gadiraju, Joy Y. Kim, Erin M. Green, Alexandra Macmillan Uribe, Honghui Chang, Tania S. Burgert, Melissa D. Olfert, Heidi Vanden Brink

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: To identify barriers and facilitators to lifestyle modifications and goal setting and characterize goal setting for adolescents with polycystic ovary syndrome (PCOS).

METHODS: Retrospective chart review of registered dietitian nutritionist (RDN) nutrition notes from 118 adolescents with PCOS 11-21 years evaluated at a multi-specialty PCOS clinic. Goals, barriers, and facilitators were coded using open coding and a priori objectives and characterized for emerging themes using qualitative content analysis.

RESULTS: Five major themes of barriers and facilitators to behavior change emerged: interest and motivation, family involvement, resources and food environment, taste preferences, and self-efficacy. RDNs set ≥3 goals with 52%, …

Neutrophil Lymphocyte Ratio As A Marker Of Skin Disease Activity In Older Children With Juvenile Dermatomyositis, Shreya Swaminathan, Nidhi Naik, Susan Shenoi, Sarah Vandenbergen, Jessica L. Turnier, Zilan Zheng, Jessica Neely, James S. Andrews, Christian Lood

Student Papers, Posters & Projects

BACKGROUND: Neutrophils contribute to the pathogenesis of many autoimmune diseases. While the neutrophil to lymphocyte ratio (NLR) is associated with disease activity in adult dermatomyositis, its clinical utility in juvenile dermatomyositis (JDM) is unknown.

METHODS: Demographic, medication use, autoantibody profile, disease activity markers, and laboratory data from 97 JDM patients was collected using retrospective chart review. Patients were age-stratified (0–9 vs. 9–21 years of age), as white blood cell count stabilizes at 9 years. The relationships between NLR with JDM disease activity measures were analyzed using spearman’s correlation.

RESULTS: Patients were primarily white (56.7%) and female (71.1%). Older children had …

Design And Refinement Of Cybercelltm, A Virtual Reality Health Education Program For Adolescents And Young Adults With Sickle Cell Disease, Aimee Hildenbrand, Melanie Pitone, Benjamin Bear, Corinna L. Schultz, Sherman Finch, Danielle Morley, Stephanie Hubbard, Alyssa Decino, Melissa A. Alderfer, Lori E. Crosby, Fredric Freeman

Department of Pediatrics Faculty Papers

For people living with sickle cell disease (SCD), the risk for disease complications and premature death rises sharply in adolescence and young adulthood, when chronic organ damage is compounded by reduced preventive care. To make informed health care decisions, adolescents and young adults (AYAs) require effective education about their health condition and treatment options. We aimed to systematically design and develop a user-centered, evidence-based virtual reality (VR) health education program to optimize the use of SCD therapies among AYAs with SCD. We engaged a diverse team including AYAs with SCD and their caregivers, multidisciplinary SCD clinicians and researchers, patient education …

Heart To Heart: Pediatric Cardiologists On Caring For Children With Congenital Heart Defects, Michael Smith, Jeffrey Shuler, Aseel Dabbagh

Pediatrics in Practice: A CME Podcast

In this episode, we sit down with leading pediatric cardiologists to explore the complexities and compassion behind caring for children with congenital heart defects (CHDs). From early diagnosis and surgical planning to long-term management and family support, our guests share their insights on what it takes to guide patients and families through every stage of the journey. They also discuss the latest advancements in pediatric cardiology and the importance of coordinated, multidisciplinary care. Whether you're a healthcare professional, a parent, or simply curious about the field, this conversation offers a meaningful look into the heart of pediatric cardiac care.

Click …

Toxic Truths: Pediatric Poisonings And The Antidotes That Save Lives, Michael Smith, Michelle Dephillips

Pediatrics in Practice: A CME Podcast

In this episode, we’re joined by Dr. Michelle DePhillips, a pediatric emergency medicine physician, to explore the critical topic of pediatric poisonings. From household items to medications, children are exposed to a wide range of toxic substances—and quick, informed action can make all the difference. Dr. DePhillips shares real-world cases, essential antidotes every pediatrician should know, and practical prevention strategies for families. Whether you're in primary care or the emergency department, this conversation offers valuable insights to help you respond confidently when minutes matter.

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Risk Factors For Unexpected Death In Patients Identified By A Communication And Resolution Program, Peter Lodato, Neal D. Goldstein, Alexandra M, Mapp, Adebayo Gbadebo, David A. Paul

Department of Pediatrics Faculty Papers

Many patients experience unexpected harm while receiving healthcare, with a lasting impact on patients, families, and caregivers. Communication and Resolution Programs are being adopted with increased frequency, as a more systematic, transparent, and equitable approach to these unexpected outcomes. The aim of this study was to identify whether demographic factors played a role in identifying patients with unexpected death, as managed in our CRP. This nested case-controlled compared 236 patients who experienced an unanticipated death with 2,360 controls who died expectedly over a 10-year period. Patients with unexpected death were more likely to be Black (AOR 2.18 95% CI 1.01-4.68), …

Nirsevimab Effectiveness Against Intensive Care Unit Admission For Respiratory Syncytial Virus In Infants - 24 States, December 2024-April 2025., Laura D. Zambrano, Regina M. Simeone, Margaret M. Newhams, Amanda B. Payne, Natasha B. Halasa, Amber O. Orzel-Lockwood, Jemima M. Calixte, Satoshi Kamidani, Hillary Crandall, Melissa A. Cameron, Jennifer E. Schuster, Aline B. Maddux, Kathleen Chiotos, Katherine Irby, Steven L. Shein, Mary Allen Staat, Lora M. Martin, Samina S. Bhumbra, Ryan A. Nofziger, Jigar C. Chauhan, Danielle M. Zerr, Shira J. Gertz, Judith A. Guzman-Cottrill, Michele Kong, Janet R. Hume, Bria M. Coates, Kelly N. Michelson, Emily R. Levy, Tamara T. Bradford, Stephanie P. Schwartz, Tracie C. Walker, Melissa S. Stockwell, Austin Biggs, Alexander H. Hogan, Katherine Lindsey, Angela P. Campbell, Adrienne G. Randolph, Overcoming Rsv Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Respiratory syncytial virus (RSV) is a leading cause of intensive care unit (ICU) admission and respiratory failure among infants (children aged < 1 year) in the United States. In August 2023, CDC's Advisory Committee on Immunization Practices recommended nirsevimab, a long-acting monoclonal antibody, to protect against RSV-associated lower respiratory tract infection among all infants aged < 8 months born during or entering their first RSV season. Following licensure, nirsevimab effectiveness has been demonstrated against RSV-associated infant hospitalization, but evidence regarding effectiveness against RSV-associated critical illness is limited. In a 27-hospital case-control investigation, nirsevimab effectiveness against both RSV-associated infant ICU admission and acute respiratory failure (illness requiring continuous positive airway pressure, bilevel positive airway pressure, or invasive mechanical ventilation) after hospital admission was evaluated during December 1, 2024-April 15, 2025. Among 457 case-patients who received a positive RSV test result and 302 control patients who received a negative RSV test result admitted to an ICU with respiratory symptoms, 14% and 45%, respectively, had received nirsevimab ≥7 days before symptom onset. Nirsevimab was 80% effective (95% CI = 70%-86%) against RSV-associated ICU admission and 83% effective (95% CI = 74%-90%) against acute respiratory failure when received a median of 52 days (IQR = 32-89 days) and 50 days (IQR = 32-86 days) before onset for each respective endpoint. These estimates support the recommendation for use of nirsevimab as a prevention strategy to protect infants against severe outcomes from RSV infection.

Impact Of Video Laryngoscopy On Pediatric And Neonatal Transport Intubation Success, Brooke A. Shahriary

Dissertations

Abstract

Problem: Airway management is the primary intervention for halting clinical decompensation in pediatric and neonatal patients. In cases where patients require invasive support, endotracheal intubation (ETI) is the preferred method of airway securement. Unfortunately, ETI is a challenging skill to develop, especially when caring for children and infants, resulting in increased rates of failed ETI attempts which can result in worse outcomes. ETI success rates in the population of interest have fallen in recent years, nationally and among the clinicians in this project. The institution established a goal for first pass success (FPS) and video laryngoscope (VL) was introduced …

Perioperative Nutrition In Pediatric Patients With Congenital Heart Disease And Heart Failure., Jaime Silva-Gburek, Kelsey May, Bailey Walvoord, Catalina Lozano, Jorge A. Coss-Bu

Manuscripts, Articles, Book Chapters and Other Papers

Optimal nutritional therapy is important for infants and children with perioperative congenital heart disease and heart failure. Medical providers face physiological and metabolic challenges when administering enteral and parenteral nutrition to these patients. Complications related to enteral nutrition can increase morbidity and mortality, although outcomes are improved in those cases in which caloric and nutrient administration can be achieved. Consensus regarding feeding strategies and timing of nutritive care is lacking. This narrative review aims to summarize, analyze and discuss the most recent literature on nutritional therapy in perioperative congenital heart disease, heart failure and pediatric patients requiring mechanical circulatory support …

Ultra-Low-Field Portable Magnetic Resonance Imaging Feasibility And Safety In Pediatric And Neonatal Extracorporeal Membrane Oxygenation: A Single-Center Year-Long Experience., Jessica S. Wallisch, Asdis Finnsdottir Wagner, John M. Daniel Iv, Allison Taber, Maura Sien, Sarah Foster, Nathan S. Artz, Timothy Zinkus, Hung-Wen Yeh, Jose A. Pineda, Patrick M. Kochanek, Sherwin S. Chan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite improving outcomes, extracorporeal membrane oxygenation (ECMO) remains associated with high rates of acute brain injury, impacting survival and outcomes. Clinical imaging modalities, including computed tomography and standard-field magnetic resonance imaging (≥1.5 Tesla), have either limited early detection of ischemic-type injuries or are incompatible with ECMO, causing diagnostic delays. A Food and Drug Administration-cleared ultra-low-field portable magnetic resonance imaging (pMRI; 0.064 Tesla) has shown promise in acute brain injury detection and use with MRI-unsafe equipment, but pediatric ECMO data are limited.

METHODS: This institutional review board-approved, single-center study was conducted at a quaternary children's hospital. Neonatal and pediatric patients …

A Week-Long Departmental Scholarship Curriculum For Pediatric Subspecialty Fellows, Amy Creel, Amanda Messer, Robin English

School of Medicine Faculty Publications

BACKGROUND: Scholarly activity is a key requirement in pediatric subspecialty fellowship training. However, clear guidance on how to effectively support fellows in their scholarly endeavors remains limited. OBJECTIVE: This study assesses the impact of a week-long departmental scholarship curriculum designed to enhance fellows' research competencies. METHODS: In 2024, a curriculum was designed and delivered to first-year pediatric subspecialty fellows over 5 days, combining group learning sessions with individualized tasks. Pre- and post-curriculum surveys assessed fellows' confidence and knowledge across key scholarly domains. Daily session evaluations provided additional feedback. Fourteen fellows from 9 pediatric subspecialty programs participated. RESULTS: All first-year fellows …

From Nicu To Neighborhood: Supporting Premature Patients Beyond The Hospital, Bob Underwood, Jermine Harriet Romald

Pediatrics in Practice: A CME Podcast

In this episode, we chat with neonatologist Harriet Romald, MD, FAAP, to explore the critical role pediatricians play in the long-term care of premature infants. From NICU discharge to developmental milestones, we discuss how pediatricians and neonatologists collaborate to ensure continuity of care, monitor common health challenges and navigate social determinants that impact outcomes. Whether you're new to caring for former NICU patients or looking to deepen your understanding, this conversation offers practical insights and the latest updates in neonatal follow-up care.

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Cordmilk: Umbilical Cord Milking Versus Early Cord Clamping On Short-And Long-Term Outcomes In Neonates Who Are Non-Vigorous At Birth-Study Protocol Of A Multi-Center, Cluster-Randomized, Crossover-Controlled Trial, S. Yogeshkumar, Sunil S. Vernekar, Sangappa M. Dhaded, Kiran Talekar, Benjamin E Leiby, Rebecca Hartman, Yvonne Vaucher, Nitin Chouthai, Meenakshi Girish, Manish Jain, Shuchi Jain, Seema Parvekar, Vinita Jain, Alka Patankar, Milind Suryawanshi, Manish Tiwari, Manjushri Waikar, Nidhi Nashine, Deepali Ambike, Mahesh Asalkar, Rajesh Kulkarni, Sandhya Haribhaktha, Hemraj Narkhede, Sudha Chaudhari, Milind Kamble, Deepti Shrirame, Balchandra Falke, Seema Mehta, Asha Verma, Sunil Gothwal, Shivaprasad S. Goudar, Richard Derman, Anup Katheria, Zubair H. Aghai

Department of Radiology Faculty Papers

BACKGROUND: Facilitating placental transfusion-the transfer of blood from the placenta to the newborn-via delayed cord clamping (DCC) or umbilical cord milking (UCM) at birth has been shown to improve iron stores in healthy term infants and may positively impact long-term neurodevelopmental outcomes. Infants who are non-vigorous at birth and at risk of developing hypoxic-ischemic encephalopathy (HIE) are particularly likely to benefit from placental transfusion. This process may offer neuroprotection by enhancing cardiopulmonary transition, supporting cardiac preload, improving systemic and cerebral perfusion, delivering stem cells and neurotrophic factors, and preventing iron deficiency. While DCC is not currently recommended for non-vigorous term …

Describing The Determinants Of Fluid Prescribing And Fluid Balance Optimization In The Pediatric Intensive Care Unit: A Qualitative Study At A Community Hospital, Salvador Roland Maffei, Graciela Sanabria, Matthew Pesek, Ayse Akcan-Arikan, Satid Thammasitboon, Patrick G Lyons

Faculty, Staff and Students Publications

Background: Critically ill children tend to receive fluid volumes exceeding physiologic requirements despite evidence demonstrating harm with increasing net positive fluid balance. However, interventions aimed at optimizing fluid balance have yet to demonstrate significant clinical benefit, likely because there are multiple drivers of this complex problem. In this study, we used qualitative inquiry to describe the current practice at a community pediatric intensive care unit and discover potential barriers and facilitators to clinical practice change.

Methods: We designed a semi-structured interview guide informed by the consolidated framework in implementation research (CFIR) and conducted interviews with attending physicians, dietitians, nurses, nurse …

Short- And Mid-Term Outcomes Of The Extravascular Implantable Cardioverter-Defibrillator In Pediatric And Adolescent Patients: A Single-Center Experience., Nikola Dragisic, Emily R. Backes, Lindsey Malloy-Walton, Edo Bedzra, William Gibson, Philip M. Chang

Manuscripts, Articles, Book Chapters and Other Papers

Experience with the Aurora extravascular (EV) implantable cardioverter-defibrillator (ICD) (Medtronic, Minneapolis, MN, USA) remains limited among pediatric centers in contrast to its broader implantation in adults. We evaluated our single-center experience with the EV ICD as part of our standard ICD options for treatment of malignant ventricular arrhythmias in pediatric subjects. Following approval for EV ICD implantation at our center, five consecutive adolescent patients underwent implantation over a 7-month period. Patient characteristics, qualification for EV ICD placement, nuances in EV ICD implantation in each patient, and post-implant follow-up were reviewed. A total of six out of eight consecutive ICD candidates …

Severe Myocarditis In The Pediatric Patient: A Simulation For Emergency Department Management, Prayerna Uppal, Anita Thomas, Robyn Wing, Lauren Kinneman, Cassandra Koid Jia Shin, Daisy Ciener, Jean I. Pearce, Claire Smith, Jennifer Reid, Kimberly Stone, Katina Summerford, Katherine Wolpert

School of Medicine Faculty Publications

Myocarditis in a pediatric patient can present with a variety of signs and symptoms, leading to a broad differential diagnosis. Delays in the correct identification of myocarditis and the initiation of appropriate interventions can have a detrimental impact on patient outcomes. In this case, a simulated five-year-old patient with myocarditis and secondary cardiogenic shock presents to the emergency department (ED). The goals of this simulation curriculum were to familiarize trainees and ED providers with the often nonspecific presentation of pediatric myocarditis, educate the care team about crucial interventions that positively or negatively impact the patient's stabilization course, and reinforce the …

Genome-Wide Discovery Of Multiple Sclerosis Genetic Risk Variant Allelic Regulatory Activity, Marissa Granitto, Lois Parks, Molly S Shook, Carmy Forney, Xiaoting Chen, Lee E Edsall, Omer A Donmez, Sreeja Parameswaran, Kristen S Fisher, Aram Zabeti, Lucinda P Lawson, Matthew T Weirauch, Leah C Kottyan

Faculty, Staff and Students Publications

Multiple sclerosis is an immune-mediated demyelinating disease of the central nervous system with a complex etiology involving environmental and genetic factors. Numerous genetic risk loci for multiple sclerosis have been nominated through genome-wide association studies, with most associated variants residing in noncoding regions. However, further work is needed to understand how genetic variation contributes to disease-related alterations to gene expression. Here, we use Massively Parallel Reporter Assays to identify genetic risk variants with genotype-dependent enhancing or silencing activity within a set of 14,275 variants distributed among multiple sclerosis risk loci that have reached genome-wide or suggestive significance. We applied our …

Vaping And Substance Abuse Warning Signs, Bob Underwood, Thuylinh Pham, Addisyn Davis

Pediatrics in Practice: A CME Podcast

In this episode, Dr. Bob Underwood hosts Dr. Thuylinh Pham, an urgent care pediatrician, and Addisyn Davis, a youth advocate, to explore the complexities of vaping among teens. Understand the significant health risks associated with vaping, the misconceptions that persist, and how to identify warning signs of substance abuse. Tune in to equip yourself with essential knowledge to support the youth in your life. Don't miss out on this informative discussion!

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Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …

Social Determinants Of Health Patterns In Children With Severe Disease Due To Sars-Cov-2 Infection-An Exploratory Approach, Joshua Prabhu, Sebastian Acosta, Fabio Savorgnan, Ananth V Annapragada, Usha Sethuraman

Faculty, Staff and Students Publications

Background/Objectives: Research on the association of adverse social determinants of health (SDOH) with severe pediatric coronavirus disease (COVID-19) is limited. We examined associations between SDOH patterns and COVID-19 severity in children.

Methods: We conducted a prospective, observational study of children (< 18 years) with symptomatic SARS-CoV-2 infection evaluated in an urban pediatric emergency department (March 2021-April 2022) in Detroit, Michigan. Caregivers completed a 34-item survey based on the Healthy People 2030 framework. Severe disease was defined as the occurrence of respiratory/cardiac failure or death within four weeks of diagnosis. Continuous and categorical variables were described using medians and percentages, respectively. Associations between disease severity and risk factors were determined using chi-square tests. Association rule mining was used for feature selection, followed by multivariate logistic regression.

Results: We analyzed data from 354 children [6-12 years: 31.1%, Female: 51.1%, Black: 59%, not Hispanic: 84.7%, public insurance: 77.1%, chronic condition: 27.4%]. Of the total, 113 children had severe disease. Most caregivers were 30-44 years old (53.1%), had less than a college degree (70.4%), and income < USD 50,000 (75.2%). Adverse SDOH reported included food/housing insecurity (24.6%), no support (64.7%), unmet childcare needs (35.9%), and lack of transportation (12.7%). After controlling for age, sex, medical history, income, and obesity, severe disease was associated with caregiver use of drugs/alcohol (OR:5.92, p < 0.001) and social discrimination/lack of support (OR: 1.74, p = 0.030).

Conclusions: Two SDOH patterns (caregiver use of drugs/alcohol …

Hyperoxia During Neonatal Cardiopulmonary Bypass Is Associated With Worse Clinical Outcomes: A Multi-Institutional Study, Asaad G Beshish, David M Kwiatkowski, Nathaniel Sznycer-Taub, John M Costello, Andrew Jergel, Scott Gillespie, Katherine Cashen, Ahmed Asfari, Maria Batsis, Jason R Buckley, Meghan M Chlebowski, Saul Flores, Nimrod Goldshtrom, Karl Migally, Kimberly I Mills, Monique R Radman, Chetana Reddy, Brittany Shutes, Christine M Riley, Sukumar Suguna Narasimhulu, Dana Mueller, Venugopal Amula, Raji Venkitachalam, Brian F Joy, Karan B Karki, Scott M Leopold, Jennifer E Schramm, Christine A Capone, Scott I Aydin, Adnan M Bakar, Kieran Leong, Agnieszka Kulikowska, Sarah Wing, Christopher W Mastropietro, Collaborative Research From The Pediatric Intensive Care Society (Core‐Pcics) Investigators

Faculty, Staff and Students Publications

Background: Exposure to supraphysiologic oxygen concentrations, or hyperoxia, during neonatal cardiopulmonary bypass (CPB) has been associated with worse outcomes in single-center studies. We aimed to describe variation in oxygen exposure during CPB and determine if hyperoxia is associated with worse outcomes in a multicenter cohort of neonates undergoing cardiac surgery.

Methods: We conducted a retrospective study of neonates who underwent surgery with CPB between January 2021 and December 2022 at 29 centers. Primary outcomes were operative mortality and major adverse cardiovascular events (MACE), which included CPR, extracorporeal support, stroke, and mortality. Logistic regression assessed the associations between median PaO2 during …

Genetic Architecture And Analysis Practices Of Circulating Metabolites In The Nhlbi Trans-Omics For Precision Medicine Program, Nannan Wang, Franklin P Ockerman, Laura Y Zhou, Megan L Grove, Taryn Alkis, John Barnard, Russell P Bowler, Clary B Clish, Shinhye Chung, Emily Drzymalla, Anne M Evans, Nora Franceschini, Robert E Gerszten, Madeline G Gillman, Scott R Hutton, Rachel S Kelly, Charles Kooperberg, Martin G Larson, Jessica Lasky-Su, Deborah A Meyers, Prescott G Woodruff, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Ramachandran S Vasan, Scott T Weiss, Kari E Wong, Alexis C Wood, Lang Wu, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Ronit Yarden, Thomas W Blackwell, Albert V Smith, Han Chen, Laura M Raffield, Bing Yu

Faculty, Staff and Students Publications

Circulating metabolite levels partly reflect the state of human health and diseases and can be impacted by genetic determinants. Hundreds of loci associated with circulating metabolites have been identified; however, most findings focus on predominantly European ancestry or single-study analyses. Leveraging the rich metabolomics resources generated by the National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) Program, we harmonized and accessibly cataloged 1,729 circulating metabolites among 25,058 ancestrally diverse samples. From our comparison of multiple methods, we provided a set of reasonable strategies for outlier and imputation handling to process metabolite data and show that inverse …

Use And Outcomes Of The Medical Hybrid Procedure For Stage 1 Palliation In Infants With Hypoplastic Left Heart Syndrome And Variants., Daniel N. Beauchamp, Christopher J. Statile, Huaiyu Zang, David A. Parra, Justin Godown, Natalie Jayaram, Matthew L. Moehlmann, Garick D. Hill

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Staged palliation of hypoplastic left heart syndrome and variants begins with the Norwood or hybrid procedure. Hybrid palliation is used in a minority of cases and often reserved for high-risk patients. Stented hybrid (SH) comprises bilateral pulmonary artery bands and ductal stenting, and medical hybrid (MH) comprises bilateral pulmonary artery bands and prostaglandins. MH use and outcomes have not been well described. We sought to compare MH, SH, and surgical stage 1 (SS1) using a national database.

METHODS: Patients from the National Pediatric Cardiology Quality Improvement Collaborative database born between 2016 and 2021 were categorized by initial intervention: MH, …

The Real-World Evaluation Of Remote Electrical Neuromodulation In Pediatric Migraines: A Preliminary Study., Amit Blumovich, Trevor Gerson, Mark Connelly, Tammie Wingert, Gina Jones

Manuscripts, Articles, Book Chapters and Other Papers

Background/Objectives: Pediatric migraine disrupts school performance and daily functioning. Concerns about medication overuse and limited efficacy highlight the need for non-pharmacologic treatments. The Nerivio remote electrical neuromodulation (REN) device, which is FDA-cleared for ages 8 and above, was evaluated in this study to assess real-world perceptions among patients in a pediatric neurology clinic. Methods: Patients aged 10-18 years who had used both acute medications and Nerivio completed two structured questionnaires, one reflecting on experiences with acute medication and one reflecting on experiences with acute REN treatment, assessing school and daily functioning, headache control, medication use, satisfaction, and preference. Descriptive statistics …

Optimising Drowning Prevention Counselling Through A Physician Maintenance Of Certification (Moc) Quality Improvement (Qi) Initiative, Tracy E Mccallin, Anthony R Arredondo, Elizabeth A Camp, Shabana Yusuf

Faculty, Staff and Students Publications

Drowning is the leading cause of death in children 1–4 years old in the USA. Paediatricians play an important role in giving anticipatory guidance on drowning prevention. This quality improvement initiative aimed to increase the rate of drowning prevention counselling with provision of educational materials to caregivers of children aged 0–10 years during clinical encounters in an outpatient setting.

We refined a previously published Texas state educational programme that included evidence-based counselling strategies across three Plan Do Study Act (PDSA) cycles, with the addition of preintervention baseline counselling phase during expansion of the programme nationally to 17 and 21 states …

Global Trends And Forecast Of Cardiovascular Diseases, Cancer, And Shared Risk Factors: Insights From The Gbd 2021, Chieh Y Koo, Bryan Chong, Jayanth Jayabaskaran, Srinithy Nagarajan, Silingga M Jauhari, Yiming Chen, Li L Tan, Anurag Mehta, Muhammad S Khan, Mark Muthiah, Derek Hausenloy, A M Richards, Dennis T Ko, Christian D Mallen, Eric A Secemsky, Mark Y Chan, Paaladinesh Thavendiranathan, Nicholas W S Chew, Mamas A Mamas

Faculty, Staff and Students Publications

Background: Cardiovascular disease (CVD) and cancer share multiple risk factors and are the leading causes of morbidity and death worldwide. This study aims to examine historical and projected trends of the combined CVD-cancer global estimates and their shared risk factors.

Methods: Death and disability-adjusted life years (DALYs) associated with CVDs, cancers, and their risk factors were obtained from the GBD (Global Burden of Disease) 2021 study. Historical estimates from 1990 to 2021 and forecast data from 2025 to 2050 were examined across age groups, regions, sociodemographic index, and sex.

Results: In 2021, CVD-cancer resulted in age-standardized DALY rates of 8009 …

Condition-Specific Growth Charts For Children With Alagille Syndrome., Koen Huysentruyt, Shannon M. Vandriel, Mathieu Roelants, David A. Piccoli, Kathleen M. Loomes, Elizabeth B. Rand, Noelle H. Ebel, Jeffrey A. Feinstein, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzinska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Saul J. Karpen, Rene Romero, Henry C. Lin, Björn Fischler, Henrik Arnell, Li-Ting Li, Jian-She Wang, Rima Fawaz, Silvia Nastasio, Kyung Mo Kim, Seak Hee Oh, Lorenzo D'Antiga, Emanuele Nicastro, Ryan T. Fischer, Susan M. Siew, Michael Stormon, Chatmanee Lertudomphonwanit, Winita Hardikar, Sahana Shankar, James E. Squires, Shikha S. Sundaram, Catherine Larson-Nath, Deirdre A. Kelly, Jane Hartley, Pinar Bulut, M Kyle Jensen, Catalina Jaramillo, Amin J. Roberts, Helen M. Evans, Étienne M. Sokal, Tanguy Demaret, Henkjan J. Verkade, Richard J. Thompson, Bettina E. Hansen, Tim J. Cole, Binita M. Kamath, Dominique Debray, Florence Lacaille, Jernej Brecelj, Nehal M. El-Koofy, Mohamed A. Elmonem, Way Seah Lee, Maria Camila Sanchez, Maria Lorena Cavalieri, Christina Hajinicolaou, Kathleen B. Schwarz, Elisa Carvalho, Nathalie Rock, Wikrom Karnsakul, Ruben E. Quiros-Tejeira, Seema Alam, Gabriella Nebbia, Yael Mozer-Glassberg, Pamela L. Valentino, Ermelinda Santos-Silva, Zerrin Önal, Antal Dezsofi-Gottl, Melina Melere, María Legarda Tamara, John Eshun, Aglaia Zellos, Giuseppe Indolfi, Maria Rogalidou, Niviann Blondet, Pier Luigi Calvo, Marisa Beretta, Andréanne N. Zizzo, Cigdem Arikan, Mureo Kasahara, Nanda Kerkar, Amal A. Aqul, Victorien M. Wolters, Raquel Borges Pinto, Jesus Quintero Bernabeu, Jennifer Garcia, Sabina Wiecek, Christos Tzivinikos, Quais Mujawar, Carolina Jimenez-Rivera, Cristina Molera Busoms, Cristina Gonçalves, Luis Bujanda, Global Alagille Alliance (Gala) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Different degrees of growth delay have been reported in children with Alagille syndrome (ALGS), yet these patients are routinely evaluated using standard growth charts.

OBJECTIVE: To develop condition-specific growth charts for ALGS using modern statistical approaches.

DESIGN, SETTING, AND PARTICIPANTS: This case series used data from the international, multicenter Global Alagille Alliance (GALA) study accrued between May 14, 2018, and March 20, 2023. Children born at full term between January 1, 1997, and August 31, 2019, with a clinically and/or genetically confirmed ALGS diagnosis and their native liver were included. Data from children with a known history of prematurity …

Gut Bacterial Dysbiosis In Pediatric Severe Malaria Associates With Post-Discharge Mortality, Olivia Bednarski, Sawyer Lehman, David Mzinza, Caroline Kazinga, Ruth Namazzi, Robert Opoka, Jie Ren, Tuan Tran, Terrie Taylor, Karl Seydel

Paediatrics and Child Health, East Africa

Gut microbiota have been implicated in severe malaria in murine models, but their contribution to the pathogenesis of severe malaria in children is unknown. Here we show through analysis of gut bacteria in stool samples from two separate African studies enrolling children with severe malaria, and children from local communities, that children with severe malaria have gut bacteria dysbiosis. Among children with severe malaria, there is increased abundance of Enterobacteriaceae that associates with multiple clinical complications of severe malaria. Moreover, increased abundance of Escherichia coli was a predictor of post-discharge mortality. Metagenome analysis identify elevated metabolic pathways and genes supporting …