Pediatric Pulmonology最新文献

{"title":"Sevoflurane-Associated Diffuse Alveolar Hemorrhage-A Rare Pediatric Presentation.","authors":"Adeline Yi Ling Lim, Amani AlBijadi, Han Byul Kang, Ruud Hendrikus Johannes Verstegen, Ronald Melvin Laxer, Fiona Elize Kritzinger","doi":"10.1002/ppul.71570","DOIUrl":"10.1002/ppul.71570","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71570"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147463462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.","authors":"Coralie Eyraud, Julie Cassibba, Eglantine Hullo, Anne Coffre, Ihab Atallah, Guillaume Mortamet, Veronique Abadie, John Rendu, Anthony Maino, Klaus Dieterich","doi":"10.1002/ppul.71581","DOIUrl":"10.1002/ppul.71581","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71581"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147487072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental Experiences and Coping Strategies of Families Caring for a Child With Cystic Fibrosis.","authors":"Tuba Çelen Yoldaş, Tuğba Şişmanlar Eyüboğlu, Asiye Uğraş Dikmen, Ayşe Tana Aslan","doi":"10.1002/ppul.71534","DOIUrl":"10.1002/ppul.71534","url":null,"abstract":"<p><strong>Introduction: </strong>Receiving a diagnosis of cystic fibrosis (CF) is often a life-shattering experience for families. Ongoing support from healthcare professionals who understand the realities of living with CF is essential. We aimed firstly to evaluate the disease-related experiences and coping strategies of families with young children diagnosed with CF and secondly to identify the unmet needs of this vulnerable population considering the risk of developmental delays.</p><p><strong>Methods: </strong>An in-depth interview was conducted with each child's family individually, and the researcher recorded their responses using thematic analysis. Following the qualitative interview, the ASQ was administered for developmental screening of children. Sociodemographic and disease characteristics were also recorded on the case interview form.</p><p><strong>Results: </strong>Twenty children aged 3-72 months with CF and their families were included in the study. The main themes of parental experiences were emotions, future concerns, stigmatization, and difficulty in caregiving. Their coping strategies as themes were religious beliefs, getting help, relaxation strategies, adherence to treatment, and organizing social life. Among the children, 20% had developmental delays in at least one domain, with no differences in sociodemographic or disease characteristics compared to those without developmental delays. One had a global developmental delay requiring educational, financial, and psychological support.</p><p><strong>Conclusions: </strong>This study describes how families develop their unique way of managing illness in the early years of life. Healthcare professionals should identify challenges and be aware of the potential actionable unmet needs of families, providing the necessary support holistically by understanding the realities of living with CF in early childhood.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71534"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12947232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147309012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.","authors":"Jelte Kelchtermans","doi":"10.1002/ppul.71550","DOIUrl":"10.1002/ppul.71550","url":null,"abstract":"<p><p>Genetic and environmental factors are known to shape the onset, course, and outcomes of pediatric lung disease, yet interactions between these variables are rarely considered in clinical practice. Gene-environment (GxE) interactions occur when the combined effect of a genetic variant and an environmental exposure differs from what would be expected from combining the effect of either variable alone. Considering these interactions may reveal subgroups at heightened risk, explain apparent inconsistencies across studies, and highlight opportunities for targeted intervention. In this narrative review, we outline the conceptual basis of GxE interactions, including the importance of scale, centering, and timing. We summarize their implications and provide a high-level overview of available analytic strategies. We then examine disease-specific findings in asthma, cystic fibrosis, and bronchopulmonary dysplasia, highlighting how GxE processes can shape lung health from early life into adulthood and may contribute to chronic obstructive pulmonary disease risk. Across the asthma and cystic fibrosis examples presented here, commonly reported interactions involve genes related to host defense and oxidative stress biology, with effects that appear sensitive to exposure timing and developmental context. We conclude by identifying near-term priorities for improving rigor, mechanistic integration, and translation. Together, these insights frame pediatric lung disease within a life-course GxE model, emphasizing that genetic susceptibility and environmental risk should be considered jointly to improve outcomes.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71550"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12954361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147343405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-Design of a Novel Telehealth Exercise Model of Care for Adults With Cystic Fibrosis.","authors":"Megan Poulsen, Arwel W Jones, Brenda Button, Anne E Holland","doi":"10.1002/ppul.71554","DOIUrl":"10.1002/ppul.71554","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71554"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12969761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global Collaboration in Cystic Fibrosis: Lessons From the COVID-19 Pandemic for Low- and Middle-Income Countries.","authors":"Stephanie Y Cheng, Marco Zampoli, Alex Elbert, Egil Bakkeheim, Siobhán B Carr, Susan C Charman, Anne L Stephenson","doi":"10.1002/ppul.71567","DOIUrl":"10.1002/ppul.71567","url":null,"abstract":"<p><strong>Background: </strong>Cystic fibrosis (CF) is a genetic disease that affects individuals across the globe, yet people with CF (pwCF) in low- and middle-income countries (LMICs) have historically been under-represented in research due to diagnostic barriers, limited resources, and lack of registry infrastructure.</p><p><strong>Aims: </strong>The COVID-19 pandemic created an urgent need for real-time, standardized data on SARS-CoV-2 infection in pwCF. The aim of this work was to determine the impact of infection on the CF community.</p><p><strong>Methods: </strong>Leveraging existing international relationships and national registries, CF leaders rapidly mobilized a global collaboration spanning 47 countries, integrating both high-income countries (HICs) and LMICs. The global CF community developed standardized data definitions and offered multiple collection platforms, including registry extractions, REDCap databases, and Excel-based forms, minimizing technical requirements and allowing centers without registries to contribute. Data were collated and analyzed to quantify the impact of SARS-CoV-2 infection on lung function as well as to identify those at risk for hospitalization and death.</p><p><strong>Results: </strong>Through this international effort, data were collected on over 7000 pwCF diagnosed with COVID-19 across 47 countries, and 6500 were included in the analysis, of which 515 cases were from an LMIC. Most pwCF who contracted COVID-19 experienced mild or moderate illness. Severe outcomes, including hospitalization and mortality, did occur but were generally confined to individuals with advanced lung disease, those who had received lung transplants, or those with other high-risk factors.</p><p><strong>Conclusion: </strong>The global CF COVID-19 initiative demonstrated that flexible, low-cost tools, capacity building, and intentional engagement of LMIC partners can reduce barriers to participation. Lessons learned, particularly around equity, sustainability, and harmonization, are directly applicable to future global CF research. Building on this model, the newly formalized Global CF Collaboration: Data & Research aims to strengthen LMIC partnerships, expand registry capacity, and ensure no region is left behind in advancing CF care and outcomes.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71567"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aneurysmal Dilatation of Pulmonary Artery-A Cause of Airway Narrowing.","authors":"Arun Sharma, Ekta Chauhan, Mudita Gulati, Vivek Jaswal, Manphool Singhal","doi":"10.1002/ppul.71587","DOIUrl":"https://doi.org/10.1002/ppul.71587","url":null,"abstract":"","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71587"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147513952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disparities in Access to Cystic Fibrosis Therapy Across Countries.","authors":"Bulent Karadag","doi":"10.1002/ppul.71560","DOIUrl":"10.1002/ppul.71560","url":null,"abstract":"<p><p>Cystic fibrosis has been transformed by the development of CFTR modulator therapies, with substantial improvements in survival and quality of life. However, access to these therapies remains profoundly unequal worldwide. The greatest benefits have been realized in high-income countries, while people with cystic fibrosis in low- and middle-income countries and underserved populations within high-income settings continue to face limited access and poorer outcomes. Underdiagnosis is a major contributor to these disparities, as limited newborn screening, restricted access to sweat testing, and incomplete genetic characterization directly limit treatment eligibility and registry inclusion. Beyond diagnosis, disparities are driven by differences in genetic variant distribution, pricing and reimbursement policies, regulatory processes, and health system capacity. This review examines how these interrelated factors shape global access to therapies, with particular emphasis on CFTR modulators. Emerging strategies-including differential pricing, licensing mechanisms, regulatory adaptation, international collaboration, and health system strengthening-are discussed. Achieving equitable access will require coordinated action across diagnostic, economic, and policy domains to ensure that advances in cystic fibrosis care benefit patients regardless of geographic or socioeconomic context.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71560"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12968938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CFTR Modulators in Brazil: Not for Everyone-A Comparison of Ineligibility Across Different Regions.","authors":"Edna Lúcia D' Souza, Victor Hugo Valença Bomfim, Luciana de Freitas Velloso Monte, Laís Ribeiro Mota, Gabriel Souza Medrado Nunes, Regina Terse-Ramos, Elenara da Fonseca Andrade Procianoy, Luiz Vicente Ribeiro Ferreira da Silva-Filho","doi":"10.1002/ppul.71557","DOIUrl":"10.1002/ppul.71557","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the prevalence of ineligibility for Elexacaftor/Tezacaftor/Ivacaftor (ETI) and Ivacaftor (IVA) and to compare data from four centers in Brazil, considering the racial/ethnic background of each population.</p><p><strong>Methods: </strong>This cross-sectional study used data from the Brazilian Cystic Fibrosis (CF) Registry. Individuals with a confirmed diagnosis of CF by the identification of two variants in the CFTR gene and/or elevated sweat chloride levels were included. Variables studied were treatment center, age at diagnosis, current age, sex, race/ethnicity, genotype, and ineligibility for ETI and IVA. The chi-square test compared the distribution of race/ethnicity across centers and associations between ineligibility, treatment center, and the presence of the 3120 + 1 G > A variant. Binary logistic regression was applied to assess the strength of association between the main variables.</p><p><strong>Results: </strong>Six hundred forty-nine individuals were included, with a median age at diagnosis and current age of 0.25 and 11.6 years, respectively. One hundred thirty-eight participants (21.26%) were ineligible for ETI or IVA. Racial/ethnic distribution varied across centers, in the total sample, and among ineligible individuals. Non-White individuals were 20% more likely to be ineligible than White individuals. The ineligibility for ETI did not vary significantly among the centers.</p><p><strong>Conclusions: </strong>The ineligibility for ETI was high across all analyzed regions, but was not different among the centers. In Brazil, characterized by widespread admixture, the public health policies must consider the genotypic heterogeneity and wide variation in ancestry of the Brazilian population.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71557"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antenatal Maternal Smoking and Lung Function in Very Prematurely Born Children.","authors":"Allan Jenkinson, Sanja Zivanovic, Christopher Harris, Theodore Dassios, Anne Greenough","doi":"10.1002/ppul.71572","DOIUrl":"10.1002/ppul.71572","url":null,"abstract":"<p><strong>Introduction: </strong>Antenatal exposure to maternal smoking negatively impacts on fetal lung development resulting in infant lung function abnormalities. Lung clearance indices (LCI) were worse in term born infants exposed to antenatal maternal smoking compared to not. Our aim was to assess the effect of antenatal maternal smoking on lung function, in particular LCI, in very prematurely born children.</p><p><strong>Methods: </strong>Lung function testing was undertaken at 11-14 years, when household members smoking and active smoking were assessed. Antenatal maternal smoking had been recorded. Lung function was assessed by LCI, spirometry, plethysmography, gas transfer and fraction of exhaled nitric oxide.</p><p><strong>Results: </strong>Two hundred and thirty children with a median gestation age of 27 weeks were assessed. Fifty-five had antenatal exposure to maternal smoking. Those with exposure to antenatal maternal smoking were more likely to live with a household member that smoked (67% vs. 18%, p < 0.001). Children of mothers who smoked in pregnancy were also more likely to be active smokers at follow up (indicated by urinary cotinine levels greater than 15 ng/mL) (49% vs. 7%; p < 0.001). Lung clearance index was higher in children exposed to maternal smoking in pregnancy (mean (SD): 7.8 (1.1) vs. 7.4 (1.2); mean difference (95% CI): -0.44 (-0.91, 0.02); p = 0.031). There were no significant differences in other measures of lung function.</p><p><strong>Conclusion: </strong>Very prematurely born children exposed to antenatal maternal smoking had greater ventilation inhomogeneity and were more likely to be active smokers and live with a household member that smoked. These findings were not explained by active smoking or household smoking contact at follow up, but those who had BPD had greater ventilation inhomogeneity.</p>","PeriodicalId":19932,"journal":{"name":"Pediatric Pulmonology","volume":"61 3","pages":"e71572"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12989133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147463509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}