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Articles 1 - 30 of 692
Full-Text Articles in Medical Sciences
Limosilactobacillus Reuteri Promotes Melatonin Release From Human Intestinal Organoids Via 5′Ectonucleotidase Activity, Micah D Forshee, Erika J Nachman, Esha R Shenoy, Heather A Danhof, Ludwig Ermann Lundberg, Stefan Roos, Robert A Britton
Limosilactobacillus Reuteri Promotes Melatonin Release From Human Intestinal Organoids Via 5′Ectonucleotidase Activity, Micah D Forshee, Erika J Nachman, Esha R Shenoy, Heather A Danhof, Ludwig Ermann Lundberg, Stefan Roos, Robert A Britton
Faculty, Staff and Students Publications
Strains of Limosilactobacillus reuteri have been used to prevent or treat various conditions; however, the mechanisms by which they exert beneficial effects are not completely understood. Infant colic is one example in which L. reuteri DSM 17938 reduces clinical symptoms. While the etiology of colic is unknown, abnormal melatonin levels in infants have been suggested as a possible contributor. L. reuteri DSM 17938 has been shown to produce adenosine from AMP via production of the extracellular enzyme 5′ectonucleotidase (5′NT). Adenosine is a potent signaling molecule that impacts several important aspects of host physiology, including the release of melatonin from the …
Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione
Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione
Faculty, Staff and Students Publications
Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.
Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.
Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …
Rsv Can Infect The Human Nasal Epithelium Via The Basolateral Route And Shows Distinct Subgroup Infectivity And Basal Cell Tropism, Ashley Murray, Divya Nagaraj, Emily M Schultz, Gina Aloisio, Erin Nicholson, Sarah E Blutt, Vasanthi Avadhanula, Pedro A Piedra
Rsv Can Infect The Human Nasal Epithelium Via The Basolateral Route And Shows Distinct Subgroup Infectivity And Basal Cell Tropism, Ashley Murray, Divya Nagaraj, Emily M Schultz, Gina Aloisio, Erin Nicholson, Sarah E Blutt, Vasanthi Avadhanula, Pedro A Piedra
Faculty, Staff and Students Publications
Respiratory syncytial virus (RSV) causes millions of lower respiratory tract infections (LRTIs) in young children, older adults, and immunocompromised populations every year. RSV infection initiates in the upper respiratory tract and can progress to the lower airways, resulting in bronchiolitis, pneumonia, and even death. RSV primarily infects epithelial cells apically, but we hypothesized that basolateral exposure of the respiratory epithelium could provide an alternative mechanism of infection that contributes to LRTI development. Using a human nose organoid-air-liquid interface (HNO-ALI) model, we performed apical and basolateral inoculations with contemporaneous RSV strains (RSV/A/Ontario [RSV/A/ON] and RSV/B/Buenos Aires [RSV/B/BA]) representing the two RSV …
A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson
A Systematic Literature Review Of Cvid Reveals Pervasive Detrimental Noninfectious Manifestations, Robert B Lindell, Samir U Sayed, Jose S Campos Duran, Sydney A Sheetz, Apoorva Babu, Montana S Knight, Andrea A Mauracher, Ceire A Hay, Peyton E Conrey, Julie C Fitzgerald, Nadir Yehya, Stephen T Famularo, Teresa Arroyo, Richard Tustin, Hossein Fazelinia, Edward M Behrens, David T Teachey, Lisa R Forbes Satter, Alexandra F Freeman, Jenna Re Bergerson, Steven M Holland, Jennifer W Leiding, Scott L Weiss, Mark W Hall, Deanne M Taylor, Rui Feng, E John Wherry, Nuala J Meyer, Sarah E Henrickson
Faculty, Staff and Students Publications
BACKGROUND
Sepsis is a leading cause of morbidity and mortality in critically ill children, yet heterogeneous immune responses complicate the development of targeted therapies and the host immune factors driving sepsis pathobiology remain unclear.
METHODS
We integrated deep immune phenotyping, plasma proteomics, single-cell transcriptomics, and phosphoflow cytometry in a prospective cohort of 88 critically ill children to elucidate the mechanisms underlying immune heterogeneity.
RESULTS
Unsupervised clustering of plasma cytokines identified 3 immunologic subgroups, including a high-severity group (“Group C”) characterized by hypercytokinemia driven by IL-6 and IFN-γ. Group C exhibited distinct alterations in immune cell frequency and activation, with a …
Pneumococcal Colonization In Pediatric Patients Undergoing Hematopoietic Cell Transplantation, Liset Olarte, Jennifer E Schuster, Ibrahim Ahmed, Kristina G Hulten
Pneumococcal Colonization In Pediatric Patients Undergoing Hematopoietic Cell Transplantation, Liset Olarte, Jennifer E Schuster, Ibrahim Ahmed, Kristina G Hulten
Faculty, Staff and Students Publications
Despite the increased risk of invasive pneumococcal disease among pediatric hematopoietic cell transplant (HCT) recipients, pneumococcal colonization has not been evaluated in this population. We prospectively assessed longitudinal pneumococcal colonization in 22 pediatric HCT recipients from conditioning therapy to 100 days post-HCT. A higher likelihood of pneumococcal colonization was observed in the late post-HCT period (weeks 9-14) compared with the early post-HCT period (weeks 1-8), with odds increasing with each additional week after conditioning.IMPORTANCEThis is the first study to longitudinally evaluate pneumococcal colonization in pediatric hematopoietic cell transplant (HCT) recipients from the onset of conditioning therapy to 100 days post-HCT. …
Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol
Bi-Allelic Loss-Of-Function Variants In Tmem63b Cause Syndromic Surfactant Dysfunction Disorder, Sock Hoai Chan, Audra N Iness, Jill A Rosenfeld, Mir Reza Bekheirnia, Lindsay C Burrage, Matthew Hoi Kin Chau, Chaerish Eint Myet Chae Htoo, Eric C Kao, Shamika Ketkar, Wan Wan Lim, Xi Luo, Rifhan Mazlan, Elizabeth Mizerik, Kein Seong Mun, Kalyani R Patel, Lorraine Potocki, Christina K Rapp, Xavier Roca, Ana Saianda, Ignacio Iglesias-Serrano, Everlyn C Siew, Donald Yuhui Sim, David R Spielberg, Sok-Kun Tae, Jing Xian Teo, Julian Warfsmann, Fan Xia, Child-Eu Registry, Saumya S Jamuar, Ee Shien Tan, Matthias Griese, Weng Khong Lim, Meow-Keong Thong, Keren Machol
Faculty, Staff and Students Publications
Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five individuals from four unrelated families with childhood interstitial lung disease and bi-allelic predicted loss-of-function variants in TMEM63B. Affected individuals presented with early-onset respiratory distress, chronic hypoxemia, and diffuse parenchymal lung abnormalities on chest imaging. One individual died in infancy, two underwent bilateral lung transplantation, and two require oxygen …
Epinephrine Underuse For Anaphylaxis In Infants And Toddlers: A Practical Review For Pediatricians, Stephanie Leeds, Aikaterini Anagnostou, Michael Pistiner, Jay Lieberman, Nicole B Ramsey, Rachael Griffiths, Julie Wang
Epinephrine Underuse For Anaphylaxis In Infants And Toddlers: A Practical Review For Pediatricians, Stephanie Leeds, Aikaterini Anagnostou, Michael Pistiner, Jay Lieberman, Nicole B Ramsey, Rachael Griffiths, Julie Wang
Faculty, Staff and Students Publications
A recent consensus report defined anaphylaxis as a serious allergic reaction that may involve the skin/mucosa, respiratory, cardiovascular, and/or gastrointestinal systems that can progress rapidly and may cause death. Epinephrine treatment is recommended in suspected anaphylaxis cases; however, numerous barriers exist to consistent, widespread epinephrine use, including difficulty identifying anaphylaxis signs and symptoms; challenges recognizing when to use epinephrine; low propensity of prescribing and filling prescriptions; low epinephrine carrying rates; knowledge gaps in epinephrine administration techniques; fears of contacting emergency medical services; use of antihistamines, inhaled bronchodilators, and other medications as first-line agents over epinephrine; and limited epinephrine device availability …
Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil
Ebneo Commentary: The Lakana Trial: Mass Administration Of Azithromycin To Infants In Mali Did Not Reduce Mortality, Maya I Brasher, Monika S Patil
Faculty, Staff and Students Publications
The LAKANA trial: a randomized control trial evaluating the impact of mass administration of azithromycin to infants 1 to 11 months of age in Mali showed no reduction in mortality.
A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura
A Nationwide Central Diagnosis For Pediatric Cns Tumors In Japan: The Jccg Brain Tumor And Pathology Committees, Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura
Faculty, Staff and Students Publications
In 2016, the Japan Children's Cancer Group launched a nationwide research initiative to provide central diagnosis incorporating pathology review and molecular profiling for pediatric central nervous system (CNS) tumors. Over the first eight years, 2224 cases were registered. Non-next-generation sequencing analyzes, such as pyrosequencing and NanoString, were routinely performed, mainly for glioma, medulloblastoma, and ependymoma. Additional analyzes, including methylation profiling and RNA sequencing, were conducted for selected diagnostically challenging cases. The most common diagnoses were low-grade glioma (26%), medulloblastoma (18%), germ cell tumor (16%), high-grade glioma (12%), and ependymoma (11%). Diagnostic or targetable alterations were detected in nearly half of …
Oxytocin Dynamics And Synchrony In Mother-Child Dyads: Long-Term Neuroendocrine Effects Of Maternal Institutionalization, Olga V Burenkova, Ekaterina M Shurdova, Victoria Manasevich, Marina Norkina, Polina E Pashkina, Aleksei A Podturkin, Alena Vodneva, Marina A Zhukova, Elena L Grigorenko
Oxytocin Dynamics And Synchrony In Mother-Child Dyads: Long-Term Neuroendocrine Effects Of Maternal Institutionalization, Olga V Burenkova, Ekaterina M Shurdova, Victoria Manasevich, Marina Norkina, Polina E Pashkina, Aleksei A Podturkin, Alena Vodneva, Marina A Zhukova, Elena L Grigorenko
Faculty, Staff and Student Publications
Early institutional care (IC; orphanage) is a severe form of early psychosocial deprivation with documented long-term effects on social and caregiving functioning. Despite longstanding interest in oxytocin (OT) as a key neuroendocrine modulator of affiliative behavior and stress, OT dynamics and synchrony during mother-child interaction among mothers with IC history remain poorly understood. To our knowledge, this is the first study to characterize maternal and child OT responses and dyadic OT covariation in this population. We measured salivary OT in mothers with IC history and mothers raised in biological family care (BFC), and in their children, at baseline and after …
Malaria In Children At 9 Us Hospitals: 2016-2023, Sesh Alexander Sundararaman, Brianne Roper, Amy K F Davis, Karen L Hanze Villavicencio, Jonathan A Mayhew, Michelle L Wang, Nina L Tang, Vijaya L Soma, Ziyi Wang, Margaret E Feeney, Indi Trehan, Jill E Weatherhead, Chandy C John, Jeffrey S Gerber, Audrey R Odom John
Malaria In Children At 9 Us Hospitals: 2016-2023, Sesh Alexander Sundararaman, Brianne Roper, Amy K F Davis, Karen L Hanze Villavicencio, Jonathan A Mayhew, Michelle L Wang, Nina L Tang, Vijaya L Soma, Ziyi Wang, Margaret E Feeney, Indi Trehan, Jill E Weatherhead, Chandy C John, Jeffrey S Gerber, Audrey R Odom John
Faculty, Staff and Students Publications
Objectives: This study set out to describe imported pediatric malaria in the United States over an 8-year period, including patient demographics, clinical outcomes, and risk factors for severe disease.
Methods: A retrospective descriptive study of pediatric patients treated for malaria at 9 hospitals in the United States from 2016 to 2023 was conducted to analyze patient demographics, clinical outcomes, and risk factors for severe malaria.
Results: A total of 171 children were treated across the 9 US hospitals included in this study from 2016 to 2023. Most patients had traveled to West Africa to visit friends and relatives. Fever was …
Disease-Specific Growth Charts Capture Characteristic Growth Patterns In Children With Pmm2 – Cdg, Kyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, Andrea Miller, Rodrigo T Starosta, Aziza Zeighami, Seishu Horikoshi, Hayden Vreugdenhil, Fernando Scaglia, Tamas Kozicz, Queenie K G Tan, Bradley S Miller, Iván Martínez-Duncker, Gerard T Berry, Peter Mcwilliams, Eva Morava, Yaw Addo
Disease-Specific Growth Charts Capture Characteristic Growth Patterns In Children With Pmm2 – Cdg, Kyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, Andrea Miller, Rodrigo T Starosta, Aziza Zeighami, Seishu Horikoshi, Hayden Vreugdenhil, Fernando Scaglia, Tamas Kozicz, Queenie K G Tan, Bradley S Miller, Iván Martínez-Duncker, Gerard T Berry, Peter Mcwilliams, Eva Morava, Yaw Addo
Faculty, Staff and Students Publications
Background: Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited. Growth and weight patterns of PMM2-CDG children differ from the general population limiting the utility of existing normative growth charts to track development trajectory in comparison to peers with PMM2-CDG.
Objective: Create PMM2-CDG disease-specific height-, weight-, and BMI-for-age reference growth charts (0-20 years).
Methods: De-identified growth data was provided by Frontiers in Congenital Disorders of Glycosylation Consortium, CDG Care, Minnesota Partnership for Biotechnology and Medical Genomics, and Glycomine, Inc. Semi-parametric modeling techniques were used to develop PMM2-CDG-specific …
Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan
Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan
Faculty, Staff and Students Publications
Background: Kawasaki disease (KD) with coronary artery aneurysms (CAA) places patients at risk for myocardial ischemia and major cardiac events (MCE). While stress perfusion cardiac magnetic resonance imaging (spCMR) is used for surveillance, its prognostic value has not been established.
Methods: We conducted a retrospective cohort study of KD patients (AHA risk levels 3-5) who underwent clinically indicated vasodilator spCMR at a tertiary pediatric center between October 2014 and December 2024. We evaluated inducible perfusion defects, late gadolinium enhancement (LGE), ventricular function, and MCE (myocardial infarction, ventricular dysfunction, arrhythmia, revascularization, transplant, or death). We performed Cox regression and Kaplan-Meier analyses …
Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain
Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain
Faculty, Staff and Students Publications
Background: In pediatric heart transplant recipients (PHTR), myocardial T1 and T2 values are elevated in the setting of acute rejection and with cardiac allograft vasculopathy. In normal, healthy children, T1 and T2 values vary with patient age. Our goal was to identify associations between T1, extracellular volume fraction (ECV), and T2 values and patient- and donor-characteristics in PHTR without history of significant graft pathology.
Methods: We performed a single-center, retrospective chart review of consecutive cardiac magnetic resonance (CMR) studies in PHTR from 2017 to 2023. Exclusion criteria were a prior CMR during the study period, history of any prior antibody-mediated …
Plasma Biomarkers Of Brain Injury In Critically Ill Children Receiving Extracorporeal Membrane Oxygenation, Matthew L Friedman, Michael J Bell, Bonnie A Brooks, Adam S Himebauch, Asavari Kamerkar, Kerri Larovere, Laura L Loftis, Jose A Pineda, Ahmed Said, Hitesh S Sandhu, Martin Stengelin, Catherine Demos, Mark S Wainwright, Alina N West, Allan Barnes, Allen D Everett, Ryan J Felling, Sue J Hong, Jennifer L Roem, Cynthia F Salorio, Derek K Ng, Melania M Bembea
Plasma Biomarkers Of Brain Injury In Critically Ill Children Receiving Extracorporeal Membrane Oxygenation, Matthew L Friedman, Michael J Bell, Bonnie A Brooks, Adam S Himebauch, Asavari Kamerkar, Kerri Larovere, Laura L Loftis, Jose A Pineda, Ahmed Said, Hitesh S Sandhu, Martin Stengelin, Catherine Demos, Mark S Wainwright, Alina N West, Allan Barnes, Allen D Everett, Ryan J Felling, Sue J Hong, Jennifer L Roem, Cynthia F Salorio, Derek K Ng, Melania M Bembea
Faculty, Staff and Students Publications
Importance: Timely identification of acute brain injury (ABI) in children receiving extracorporeal membrane oxygenation (ECMO) support is critical for early neuroprotective interventions.
Objectives: To determine if elevations in plasma glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and tau levels in children receiving ECMO precede new ABI confirmed by neuroimaging, and if they are associated with mortality and functional outcomes.
Design, setting, and participants: This was a prospective observational cohort study conducted from 2019 to 2023, with 18-month follow-up completed in 2025. Children aged 2 days to younger than 18 years at ECMO cannulation were recruited from 11 US …
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
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 …
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
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: …
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
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
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
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
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
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
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
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 …
Growth Failure And Early Recurrence In Congenital Diaphragmatic Hernia: An International Cohort Study, Rachel C Bordelon, Kylie I Holden, Charles C Miller, Ashley H Ebanks, Kevin P Lally, Matthew T Harting, Allison L Speer, Representing The Congenital Diaphragmatic Hernia Study Group
Growth Failure And Early Recurrence In Congenital Diaphragmatic Hernia: An International Cohort Study, Rachel C Bordelon, Kylie I Holden, Charles C Miller, Ashley H Ebanks, Kevin P Lally, Matthew T Harting, Allison L Speer, Representing The Congenital Diaphragmatic Hernia Study Group
Faculty, Staff and Student Publications
Purpose: The primary objective was to determine whether growth failure (GF) is associated with early recurrence in congenital diaphragmatic hernia (CDH). The secondary objective was to characterize the prevalence and severity of GF in CDH survivors.
Background: GF is common among CDH survivors, yet it is unclear how growth challenges affect overall morbidity, including hernia recurrence. CDH-specific nutritional guidelines include high calorie and protein targets during periods of acute illness but may benefit from clarifying the relationship between growth and adverse outcomes in this population.
Methods: This multicenter cohort study retrospectively analyzed prospectively collected data from the CDH Study Group …
Associations Between Sociodemographic Predictors And Age Of Referral For Autism Spectrum Disorder (Asd) Diagnosis Since The Beginning Of The Covid-19 Pandemic, Mallika Mathur, Ruosha Li, Sandra Mckay, Christine Markham, Deepali K Ernest, Shreela Sharma
Associations Between Sociodemographic Predictors And Age Of Referral For Autism Spectrum Disorder (Asd) Diagnosis Since The Beginning Of The Covid-19 Pandemic, Mallika Mathur, Ruosha Li, Sandra Mckay, Christine Markham, Deepali K Ernest, Shreela Sharma
Faculty, Staff and Student Publications
Purpose: Sociodemographic characteristics, such as race and ethnicity, are associated with delays in ASD diagnosis. However, limited literature has examined the characteristics associated with delayed diagnosis since the start of the COVID-19 pandemic. This study aimed to identify the individual and aggregate sociodemographic characteristics associated with the age at which a child receives a referral for a diagnosis (from March 2020 to May 2023) and evaluate the impacts of the pandemic on this association.
Methods: Using cross-sectional data obtained from patients' electronic health records and the U.S. Census Bureau, we examined associations using linear regressions (N = 507). A subgroup …
Outcomes After Pulmonary Artery Flow Reducer Implantation In High-Risk Neonates With Congenital Heart Disease And Pulmonary Overcirculation, Cihangir Buyukgoz, Shyam Sathanandam, Neil Tailor, Ashley Molloy, Thomas Spentzas, Karthik Ramakrishnan, Christopher Knott-Craig, Umar Boston
Outcomes After Pulmonary Artery Flow Reducer Implantation In High-Risk Neonates With Congenital Heart Disease And Pulmonary Overcirculation, Cihangir Buyukgoz, Shyam Sathanandam, Neil Tailor, Ashley Molloy, Thomas Spentzas, Karthik Ramakrishnan, Christopher Knott-Craig, Umar Boston
Faculty, Staff and Student Publications
Background: Surgical outcomes in neonates with complex congenital heart disease (CHD) and pulmonary overcirculation (POC) initially palliated with pulmonary flow reducers (PFRs) were evaluated.
Methods: This was a retrospective study conducted between January 1, 2020 and December 31, 2023. Eleven neonates underwent PFR palliation. Fenestrated Medtronic microvascular plugs (PFRs) were delivered into the branch pulmonary artery (PA). The target surgical procedure involved the removal of PFRs and biventricular repair (n = 9) or single-ventricle palliation (n = 2).
Results: Patients were deemed high risk on the basis of prematurity (n = 5), early gestational age (n = 5), heterotaxy (n …
Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Ruairi Smith-Dewey, Angela Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst
Aht Diagnoses: The Influences Of Clinical Presentation And Evidence Of Impact, Ruairi Smith-Dewey, Angela Bachim, Colleen Bressler, Kristine Campbell, Lori Frasier, Christopher Greeley, Danielle Horton, Nicole Johnson, Jan Leonard, Megan M Letson, Caitlin Mcnamara, Ashley Sherman, Shalon Nienow, Stuart Sommers, Joanne N Wood, James Anderst
Faculty, Staff and Students Publications
Background: The frequency of abusive head trauma (AHT) diagnoses by child abuse pediatricians (CAPs), especially regarding external evidence of head impact, has been questioned.
Objectives: To compare CAP diagnoses in subjects with subdural hemorrhage (SDH) across clinical presentations, including subgroups with and without external evidence of head impact. Additionally, we aimed to describe subjects with SDH and concomitant suspicious injuries (CSI) without evidence of head impact.
Participants and setting: Multicenter retrospective study including subjects < 24 months old with SDH.
Methods: Subjects were divided into groups based on clinical presentations: Ill SDH only, Non-ill SDH only, and SDH + CSI. Groups were subcategorized based on presence/absence …
Yield Of Injury Testing For Contacts Of Children Evaluated For Physical Abuse, Lígia Batista, Joanne N Wood, Tagrid M Ruiz-Maldonado, M Katherine Henry, Jan Leonard, Angela Bachim, James D Anderst, Farah W Brink, Hannah B Sahud, Lori D Frasier, Nancy S Harper, Natalie Laub, Colleen J Bressler, Daniel M Lindberg
Yield Of Injury Testing For Contacts Of Children Evaluated For Physical Abuse, Lígia Batista, Joanne N Wood, Tagrid M Ruiz-Maldonado, M Katherine Henry, Jan Leonard, Angela Bachim, James D Anderst, Farah W Brink, Hannah B Sahud, Lori D Frasier, Nancy S Harper, Natalie Laub, Colleen J Bressler, Daniel M Lindberg
Faculty, Staff and Students Publications
Background: Siblings and household contacts of physically abused children are at increased risk for physical abuse and may have injuries that are not clinically apparent. However, injury testing recommendations for contact children remain debated.
Objective: Our objective was to describe testing practices and yield for contacts of physically abused children.
Participants and settings: This is a cross-sectional study of children < 10 years old evaluated for physical abuse at 10 US pediatric referral centers in the CAPNET research network.
Methods: We report the proportion of contact children who had a skeletal survey (SS) or neuroimaging and describe the proportion of tests that identified injuries.
Results: Among 6256 index evaluations, 4863 contacts were identified. Among 794 contacts with physical examinations, …
Feasibility Of A Large Language Model Chatbot To Support Parental Understanding In The Picu, R Brandon Hunter, Satid Thammasitboon, Sreya Rahman, Sriya Kakarla, Pamela Petersen, Shelley Kumar, Thomas Rappold, Sanjiv Mehta
Feasibility Of A Large Language Model Chatbot To Support Parental Understanding In The Picu, R Brandon Hunter, Satid Thammasitboon, Sreya Rahman, Sriya Kakarla, Pamela Petersen, Shelley Kumar, Thomas Rappold, Sanjiv Mehta
Faculty, Staff and Students Publications
Objectives: To evaluate the feasibility of a large language model (LLM)-based chatbot for answering parental questions in the PICU and inform design of a randomized controlled trial (RCT).
Design: Prospective single-arm feasibility study conducted from August 2024 to December 2024.
Setting: Quaternary PICU.
Subjects: Fourteen parents of children admitted to the PICU.
Interventions: Parents engaged in 10-minute sessions with a HIPAA-compliant GPT-4o- (Generative Pretrained Transformer 4o, OpenAI, San Francisco, CA) based chatbot prompted with patient-specific electronic health record (EHR) data.
Measurements and main results: Feasibility was assessed through four criteria: parental engagement and satisfaction, provider perceptions, accuracy and safety, and …