Journal of Pediatrics最新文献

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Are Early, Frequent Echocardiograms Necessary to Improve Outcomes of Neonates with Congenital Diaphragmatic Hernia?
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-17 DOI: 10.1016/j.jpeds.2025.114510
Michelle J. Yang MD, MSCI , Ryan J. Carpenter MD , Katie W. Russell MD , Stephen J. Fenton MD , Christian C. Yost MD , Bradley A. Yoder MD
{"title":"Are Early, Frequent Echocardiograms Necessary to Improve Outcomes of Neonates with Congenital Diaphragmatic Hernia?","authors":"Michelle J. Yang MD, MSCI ,&nbsp;Ryan J. Carpenter MD ,&nbsp;Katie W. Russell MD ,&nbsp;Stephen J. Fenton MD ,&nbsp;Christian C. Yost MD ,&nbsp;Bradley A. Yoder MD","doi":"10.1016/j.jpeds.2025.114510","DOIUrl":"10.1016/j.jpeds.2025.114510","url":null,"abstract":"<div><h3>Objective</h3><div>To determine if timing of first postnatal echocardiogram (ECHO), early vs delayed, affects the use of extracorporeal membrane oxygenation (ECMO) and survival to discharge in neonates with congenital diaphragmatic hernia (CDH).</div></div><div><h3>Study design</h3><div>We retrospectively reviewed 306 neonates with CDH managed between January 2007 through December 2023. We excluded 21 neonates diagnosed at &gt;24 hours age and 14 outborn neonates transferred at &gt;12 hours age. Based on initial ECHO guideline recommendation changes, we compared 2 ECHO cohorts: early (&lt;24 hours, 2007-2015) vs delayed (&gt;24 hours, 2016-2023). Outcomes of interest included ECMO use, survival, rates of cardiopulmonary therapies, and key ECHO parameters.</div></div><div><h3>Results</h3><div>The median age for first preoperative ECHO was 7 hours (IQR, 4-13 hours) in the early epoch vs 40 hours (IQR, 19-62 hours) in the delayed epoch (<em>P</em> &lt; .001). Despite similar demographics including gestation, birth weight, defect size, and intrathoracic liver, ECMO use (31% vs 9%) and survival (70% vs 82%) were improved significantly in association with delayed timing of first ECHO (<em>P</em> &lt; .05). Measures of pulmonary hypertension, ventricular size, and ventricular function were similar, but significantly less inhaled nitrous oxide and vasoactive drugs were used in the delayed ECHO epoch.</div></div><div><h3>Conclusions</h3><div>A delay in the timing of the initial postnatal ECHO for critically ill neonates with CDH, as part of a broader series of guideline changes, was associated with less ECMO, improved survival, and lower use of inhaled nitrous oxide and vasoactive drugs despite similar ECHO measures of pulmonary hypertension, ventricular size, and ventricular function. Randomized studies are needed to define better the optimal timing and interventions related to the initial ECHO for CDH.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114510"},"PeriodicalIF":3.9,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Integration of Artificial Intelligence-Powered Psychotherapy Chatbots in Pediatric Care: Scaffold or Substitute?
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-17 DOI: 10.1016/j.jpeds.2025.114509
Bryanna Moore PhD , Jonathan Herington PhD , Şerife Tekin PhD
{"title":"The Integration of Artificial Intelligence-Powered Psychotherapy Chatbots in Pediatric Care: Scaffold or Substitute?","authors":"Bryanna Moore PhD ,&nbsp;Jonathan Herington PhD ,&nbsp;Şerife Tekin PhD","doi":"10.1016/j.jpeds.2025.114509","DOIUrl":"10.1016/j.jpeds.2025.114509","url":null,"abstract":"","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114509"},"PeriodicalIF":3.9,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Risk from Widespread Micro- and Nano-Plastic Contamination on a Global Scale and the Threat to Children's Health
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-15 DOI: 10.1016/j.jpeds.2025.114512
Massimo Pettoello-Mantovani MD, PhD , Donjeta Bali MD , Ida Giardino MD , Tudor Lucian Pop MD, PhD , Esra Sevketoglu MD , Georgios Konstantinidis MD , Maria Pastore MD , Mehmet Vural MD
{"title":"The Risk from Widespread Micro- and Nano-Plastic Contamination on a Global Scale and the Threat to Children's Health","authors":"Massimo Pettoello-Mantovani MD, PhD ,&nbsp;Donjeta Bali MD ,&nbsp;Ida Giardino MD ,&nbsp;Tudor Lucian Pop MD, PhD ,&nbsp;Esra Sevketoglu MD ,&nbsp;Georgios Konstantinidis MD ,&nbsp;Maria Pastore MD ,&nbsp;Mehmet Vural MD","doi":"10.1016/j.jpeds.2025.114512","DOIUrl":"10.1016/j.jpeds.2025.114512","url":null,"abstract":"","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114512"},"PeriodicalIF":3.9,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How Neonatologists Use Genetic Information
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-12 DOI: 10.1016/j.jpeds.2025.114508
Katharine Press Callahan MD, MSME , Rebecca Mueller LCGC, PhD, MPH , Steven Joffe MD, MPH , Cara Skraban MD , Nancy B. Spinner PhD , Karen Crew BSc , K. Taylor Wild MD , Justin T. Clapp PhD, MPH , Chris Feudtner MD, PhD, MPH
{"title":"How Neonatologists Use Genetic Information","authors":"Katharine Press Callahan MD, MSME ,&nbsp;Rebecca Mueller LCGC, PhD, MPH ,&nbsp;Steven Joffe MD, MPH ,&nbsp;Cara Skraban MD ,&nbsp;Nancy B. Spinner PhD ,&nbsp;Karen Crew BSc ,&nbsp;K. Taylor Wild MD ,&nbsp;Justin T. Clapp PhD, MPH ,&nbsp;Chris Feudtner MD, PhD, MPH","doi":"10.1016/j.jpeds.2025.114508","DOIUrl":"10.1016/j.jpeds.2025.114508","url":null,"abstract":"<div><h3>Objective</h3><div>To delineate specific ways in which neonatologists integrate genetic information into their clinical decision making.</div></div><div><h3>Study design</h3><div>We employed chart-stimulated recall, in which neonatologists described how they used genetic tests in specific patient cases, as well as semi-structured questioning about genetic information.</div></div><div><h3>Results</h3><div>Based on 28 interviews with neonatologists, we document 6 uses of genetic information: making a diagnosis, categorizing/stereotyping as “genetic,” informing prognosis, influencing treatment, informing goals of care, and supporting accountability. Both specific genetic diagnoses as well as a general categorization as “genetic” help neonatologists make sense of unusual clinical situations and calibrate their predictions about the future. Predictions, in turn, inform goals of care decisions, the timing of medical technology placement, and neonatologists' self-evaluations. Diagnoses rarely influence day-to-day treatment directly. Neonatologists assign great value to improved prognostication, but simultaneously feel a responsibility to ensure that genetic information is not applied in ways that are overly deterministic or reflect ableism.</div></div><div><h3>Conclusions</h3><div>Frameworks for measuring successes and failures of genetic information in the neonatal intensive care unit need to be aligned with the ways neonatologists use this information. Understanding neonatologists’ use creates opportunity to maximize benefit and reduce bias in applying this complex information.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114508"},"PeriodicalIF":3.9,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Infantile Granular Parakeratosis
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-12 DOI: 10.1016/j.jpeds.2025.114507
Samantha Epstein BS, Sarah Williamson MD, Lisa Gelles MD
{"title":"Infantile Granular Parakeratosis","authors":"Samantha Epstein BS,&nbsp;Sarah Williamson MD,&nbsp;Lisa Gelles MD","doi":"10.1016/j.jpeds.2025.114507","DOIUrl":"10.1016/j.jpeds.2025.114507","url":null,"abstract":"","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114507"},"PeriodicalIF":3.9,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of the COVID-19 Pandemic on Children's Body Mass Index Trajectories in Sweden
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-10 DOI: 10.1016/j.jpeds.2025.114500
Jonas Englund MSc , Niclas Olofsson PhD
{"title":"Effects of the COVID-19 Pandemic on Children's Body Mass Index Trajectories in Sweden","authors":"Jonas Englund MSc ,&nbsp;Niclas Olofsson PhD","doi":"10.1016/j.jpeds.2025.114500","DOIUrl":"10.1016/j.jpeds.2025.114500","url":null,"abstract":"<div><h3>Objectives</h3><div>To examine the effects of societal and public health changes during the COVID-19 pandemic in Sweden on children's body mass index (BMI) and to determine whether the effect persisted and differed between the sexes.</div></div><div><h3>Study design</h3><div>We used growth curve models applied to retrospective cohorts of children in preschool, grade 4, grade 7, and the first year of high school between the years 2014 and 2023. The data include information on the BMI of individuals in these grades.</div></div><div><h3>Results</h3><div>The results indicate that the pandemic in Sweden was associated with a very small weight gaining effect among children, with no substantial differences between the sexes. The effect peaked approximately 2 years after the beginning of the pandemic, following which the BMI began trending back toward levels that would be expected had the pandemic not affected children's body weight.</div></div><div><h3>Conclusions</h3><div>These study findings from Sweden partially align with those of international studies, although the effect is smaller in magnitude compared with international estimates. The results of this study suggest that more liberal restrictions, compared with stricter ones, are associated with a smaller excess increase in body weight among children.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114500"},"PeriodicalIF":3.9,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum to “Relationship Between Urine Serotonin and Persistent Pulmonary Hypertension of the Newborn”. J Pediatr 2025; 276:114290
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-08 DOI: 10.1016/j.jpeds.2025.114462
Jamie L. Archambault MD , Teri L. Hernandez PhD, RN , Eva S. Nozik MD , Claire Palmer MS , Mairead Dillon MB , Ravinder J. Singh PhD , Csaba Galambos MD, PhD , Cassidy A. Delaney MD
{"title":"Corrigendum to “Relationship Between Urine Serotonin and Persistent Pulmonary Hypertension of the Newborn”. J Pediatr 2025; 276:114290","authors":"Jamie L. Archambault MD ,&nbsp;Teri L. Hernandez PhD, RN ,&nbsp;Eva S. Nozik MD ,&nbsp;Claire Palmer MS ,&nbsp;Mairead Dillon MB ,&nbsp;Ravinder J. Singh PhD ,&nbsp;Csaba Galambos MD, PhD ,&nbsp;Cassidy A. Delaney MD","doi":"10.1016/j.jpeds.2025.114462","DOIUrl":"10.1016/j.jpeds.2025.114462","url":null,"abstract":"","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"279 ","pages":"Article 114462"},"PeriodicalIF":3.9,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemodynamic Risk Factors for Cerebellar Hemorrhage Presence and Volume in Infants Born Very Preterm
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-06 DOI: 10.1016/j.jpeds.2025.114503
Marta Ybarra MD , Thiviya Selvanathan MD, PhD , Ting Guo PhD , Vann Chau MD , Helen M. Branson BSc, MBBS , Linh G. Ly MD, MEd , Anne R. Synnes MDCM, MHSc , Edmond Kelly MB, BCh, BAO , Ruth E. Grunau PhD , Steven P. Miller MDCM, MAS , Emily W.Y. Tam MDCM, MAS
{"title":"Hemodynamic Risk Factors for Cerebellar Hemorrhage Presence and Volume in Infants Born Very Preterm","authors":"Marta Ybarra MD ,&nbsp;Thiviya Selvanathan MD, PhD ,&nbsp;Ting Guo PhD ,&nbsp;Vann Chau MD ,&nbsp;Helen M. Branson BSc, MBBS ,&nbsp;Linh G. Ly MD, MEd ,&nbsp;Anne R. Synnes MDCM, MHSc ,&nbsp;Edmond Kelly MB, BCh, BAO ,&nbsp;Ruth E. Grunau PhD ,&nbsp;Steven P. Miller MDCM, MAS ,&nbsp;Emily W.Y. Tam MDCM, MAS","doi":"10.1016/j.jpeds.2025.114503","DOIUrl":"10.1016/j.jpeds.2025.114503","url":null,"abstract":"<div><h3>Objective</h3><div>To examine among infants born very preterm the role of hemodynamic disturbances in the occurrence of cerebellar hemorrhage (CbH) and whether cardiovascular instability is associated with larger CbH volume.</div></div><div><h3>Study design</h3><div>Prospective, longitudinal, multisite cohort study. Early-life and/or term-equivalent age brain magnetic resonance imaging were performed in 309 very preterm infants admitted to 3 tertiary-level neonatal intensive care units. A cut-off of 4 mm was used to distinguish punctate vs large CbH. CbH volumes were obtained by manual segmentation. As a measure of hemodynamic stability, Score for Neonatal Acute Physiology, patent ductus arteriosus requiring treatment, and hypotension treated with inotropes were recorded.</div></div><div><h3>Results</h3><div>Sixty patients (18.3%) were diagnosed with CbH, classified as punctate in 43 infants (71.3%). Hypotension requiring treatment with inotropes was an independent risk factor for CbH (OR 3.07, 95% CI 1.15-8.21, <em>P</em> = .02) and was associated with larger CbH volume (0.36 log mm<sup>3</sup>, 95% CI 0.17-0.54, <em>P</em> &lt; .001).</div></div><div><h3>Conclusions</h3><div>Hypotension treated with inotropes is shown to be an independent risk factor for the presence of CbH as well as for larger CbH volume. These results reinforce the importance of hemodynamics stability, especially an appropriate management of hypotension to prevent CbH and therefore improve neurodevelopmental outcomes among infants born very preterm.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114503"},"PeriodicalIF":3.9,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rural-Urban Differences in Patient-Sharing by Clinicians Caring for Children with Medical Complexity: Network Analysis of the Pediatric Workforce in Three States
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-06 DOI: 10.1016/j.jpeds.2025.114506
Erika L. Moen PhD, MS , Seneca D. Freyleue MS , Mary Arakelyan MPH , Andrew P. Schaefer PhD , A. James O'Malley PhD , David C. Goodman MD, MS , JoAnna K. Leyenaar MD, PhD, MPH
{"title":"Rural-Urban Differences in Patient-Sharing by Clinicians Caring for Children with Medical Complexity: Network Analysis of the Pediatric Workforce in Three States","authors":"Erika L. Moen PhD, MS ,&nbsp;Seneca D. Freyleue MS ,&nbsp;Mary Arakelyan MPH ,&nbsp;Andrew P. Schaefer PhD ,&nbsp;A. James O'Malley PhD ,&nbsp;David C. Goodman MD, MS ,&nbsp;JoAnna K. Leyenaar MD, PhD, MPH","doi":"10.1016/j.jpeds.2025.114506","DOIUrl":"10.1016/j.jpeds.2025.114506","url":null,"abstract":"<div><h3>Objective</h3><div>To examine rural-urban differences in the clinician workforce caring for children with medical complexity (CMC) in ambulatory settings and to determine how measures of clinician patient-sharing differ for rural- and urban-residing CMC.</div></div><div><h3>Study design</h3><div>We analyzed Massachusetts, New Hampshire, and Colorado all-payer claims data from 2012 through 2017 to identify CMC and their clinicians. We assembled patient-sharing networks in which clinicians were connected on the basis of having encounters with common pediatric patients. We evaluated rural-urban differences in CMC care team size, composition (ie, which specialists were included), and care density (ie, extent to which a CMC's care team shared patients) and network measures of primary care clinician (PCC) centrality (eg, number of patient-sharing relationships).</div></div><div><h3>Results</h3><div>Analysis included 107 692 CMC, of whom 7065 (7.0%) were rural-residing and 100 627 (93.0%) were urban-residing. Rural-residing CMC had lower relative risk of having a PCC specialized in pediatrics (relative risk 0.81, 95% CI 0.73-0.89) compared with urban-residing CMC. Despite having similarly sized care teams, rural-residing CMC had substantially lower care density (median [IQR] = 21.6 [7.9, 72.8]) compared with urban-residing CMC (median [IQR] = 48.3 [13.0, 158.7]). Rural PCC were less central in the networks and had a greater percentage of connections with advanced practice providers compared with their urban counterparts (median [IQR] = 19.2 [14.3, 24.5] vs 14.3 [7.5, 23.4]).</div></div><div><h3>Conclusions</h3><div>Our study provides new insight into the clinicians and teams caring for CMC. Rural-residing CMC were more likely to receive care from clinicians with fewer connections and lower care density, reflecting fewer shared patients within the team. Programs supporting care of CMC may benefit from recognizing rural-urban differences in team composition and relationships between clinicians.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114506"},"PeriodicalIF":3.9,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome
IF 3.9 2区 医学
Journal of Pediatrics Pub Date : 2025-02-06 DOI: 10.1016/j.jpeds.2025.114499
Adam J. Shapiro MD , Eveline Y. Wu MD , Deborah J. Morris-Rosendahl PhD , Kenneth N. Olivier MD , Sharon D. Dell MD , Scott D. Sagel MD , Cullen M. Dutmer MD , Ricardo A. Mosquera MD , Markus Rose MD , Michael G. O'Connor MD , Chi A. Ma PhD , Gulbu Uzel MD , Timothy J. Vece MD , Maimoona A. Zariwala PhD , Michael R. Knowles MD , Margaret W. Leigh MD , Stephanie D. Davis MD , Thomas W. Ferkol MD
{"title":"Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome","authors":"Adam J. Shapiro MD ,&nbsp;Eveline Y. Wu MD ,&nbsp;Deborah J. Morris-Rosendahl PhD ,&nbsp;Kenneth N. Olivier MD ,&nbsp;Sharon D. Dell MD ,&nbsp;Scott D. Sagel MD ,&nbsp;Cullen M. Dutmer MD ,&nbsp;Ricardo A. Mosquera MD ,&nbsp;Markus Rose MD ,&nbsp;Michael G. O'Connor MD ,&nbsp;Chi A. Ma PhD ,&nbsp;Gulbu Uzel MD ,&nbsp;Timothy J. Vece MD ,&nbsp;Maimoona A. Zariwala PhD ,&nbsp;Michael R. Knowles MD ,&nbsp;Margaret W. Leigh MD ,&nbsp;Stephanie D. Davis MD ,&nbsp;Thomas W. Ferkol MD","doi":"10.1016/j.jpeds.2025.114499","DOIUrl":"10.1016/j.jpeds.2025.114499","url":null,"abstract":"<div><div>Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114499"},"PeriodicalIF":3.9,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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