BMJ Open Respiratory Research最新文献

{"title":"Association between short-term exposure to air pollution and COVID-19: a case-crossover cohort study.","authors":"Andreas Tornevi, Christer Janson, Andreas Palm, Magnus Svartengren, Juan Wang, Andrei Malinovschi, Josef D Järhult, Mathias Holm, Sven-Erik Dahlen, Lars Modig, Bertil Forsberg, Össur Ingi Emilsson","doi":"10.1136/bmjresp-2025-003279","DOIUrl":"10.1136/bmjresp-2025-003279","url":null,"abstract":"<p><strong>Objective: </strong>To investigate associations between short-term fluctuations in urban background air pollution and the incidence of COVID-19 across three Swedish cities using detailed individual-level data.</p><p><strong>Methods: </strong>A case-crossover analysis was conducted using individual-level data from a prospective cohort of adults across three Swedish cities (Stockholm, Gothenburg and Uppsala), including 3999 confirmed COVID-19 cases. Subjects were classified as cases on the date of their first positive PCR test, which occurred between 7 March 2020 and 26 January 2022. Exposure data for daily levels of PM2.5, PM10 and NO₂ were obtained from urban background monitoring stations. Lag-specific and cumulative associations were examined using distributed lag models and distributed lag non-linear models, adjusting for meteorological variables.</p><p><strong>Results: </strong>A significant association was observed between elevated PM2.5 levels and testing positive for COVID-19 on the same day (lag 0), with an OR of 1.084 (95% CI 1.011 to 1.162) per IQR (3.3 µg/m³) increase. Similar lag 0 effects were found across the three cities. For PM10, the most consistent associations were observed at lag 3. For NO₂, significant effects at lag 0 emerged only after excluding the final COVID-19 wave. Subgroup analyses showed similar effects among individuals with pre-existing respiratory conditions, though results were less consistent.</p><p><strong>Conclusions: </strong>Our findings suggest that short-term fluctuations in air pollution, particularly for PM2.5, are associated with the timing of confirmed COVID-19 cases. A possible explanation for the short lag association is that air pollution exacerbates symptoms, prompting individuals to seek testing, rather than directly facilitating new infections.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13504881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148788016","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":"Diagnostic intervals and imaging use in lung cancer: a national real-world study in England.","authors":"Monica L Mullin, Xiaocong Li Marston, Hannah Matthews, James Lavin, Ricky Thakrar","doi":"10.1136/bmjresp-2025-004013","DOIUrl":"10.1136/bmjresp-2025-004013","url":null,"abstract":"<p><strong>Background: </strong>Timely diagnosis is critical for improving lung cancer outcomes, yet diagnostic pathways in England remain complex and variable. Real-world evidence examining imaging use, delays and emergency care during the diagnostic interval is limited.</p><p><strong>Methods: </strong>We conducted a national retrospective cohort study using linked Hospital Episode Statistics and Diagnostic Imaging Dataset for adults newly diagnosed with lung cancer between April 2018 and March 2019. Diagnostic intervals were defined from first chest imaging to diagnosis. We assessed imaging utilisation, diagnostic pathways and A&E attendance, with subgroup analyses by ethnicity, deprivation and diagnostic interval.</p><p><strong>Results: </strong>Among 21 052 patients, the median diagnostic interval was 56 days: 25% experienced intervals ≥113 days. Patients underwent a median of three chest scans, and 25% received four or more. Multimodality imaging was strongly associated with prolonged intervals. One-third of patients attended A&E during the diagnostic pathway, rising to 45% among those with the longest intervals. Asian patients experienced the longest diagnostic intervals (median: 67 days). Patterns were consistent across deprivation quintiles, with diagnostic intervals and high A&E attendance observed across all strata, indicating systemic gaps in coordinated diagnostic pathways.</p><p><strong>Conclusion: </strong>A substantial proportion of patients with lung cancer in England experience prolonged diagnostic intervals, often accompanied by high emergency care utilisation. Prolonged diagnostic intervals may reflect underlying differences in patient pathways. Multimodality imaging was associated with longer diagnostic timelines, which could represent clinical complexity, diagnostic challenges or possibly fragmentation of diagnostic pathways. These findings highlight the need for streamlined imaging processes, timely follow-up after initial chest imaging and stronger primary care engagement to support earlier diagnosis and alignment with the National Optimal Lung Cancer Pathway.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13479484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148757561","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":"Disease burden of viral respiratory infections in people with intellectual disabilities: a scoping review.","authors":"Lynette J van Susante-Oost, Mathilde Mastebroek, Monique C J Koks-Leensen, Aura Timen, Geraline L Leusink, Maarten Cuypers","doi":"10.1136/bmjresp-2025-004082","DOIUrl":"10.1136/bmjresp-2025-004082","url":null,"abstract":"<p><strong>Background: </strong>Viral respiratory infections are highly contagious and associated with an increased risk of serious adverse health outcomes in vulnerable populations, including people with intellectual disabilities. However, little is known about the overall disease burden of viral respiratory infections among people with intellectual disabilities.</p><p><strong>Aim: </strong>This scoping review aims to provide an overview of the existing literature on the disease burden of viral respiratory infections among people with intellectual disabilities.</p><p><strong>Methods: </strong>Studies published between 1999 and 10 July 2024, were identified through PubMed, MEDLINE, Embase and Web of Science, and included if focused on adults with intellectual disabilities, viral respiratory infections and relevant health outcomes such as infection rate, mortality, hospitalisation, functional impairments or quality of life.</p><p><strong>Results: </strong>58 articles were included, of which the majority focused on COVID-19 (42/58) or influenza (13/58). Studies varied in their methodology and outcome measures. Evidence on COVID-19 and influenza showed that people with intellectual disabilities experience a higher disease burden from these infections compared with the general population. Particularly disproportionate effects were evident among people with Down syndrome, who had higher mortality estimates and an increased burden of comorbidities associated with severe disease and death.</p><p><strong>Conclusion: </strong>Although available evidence appeared limited and diverse, this scoping review shows a higher disease burden in people with intellectual disabilities, in particular for COVID-19 and influenza-type viruses, which can be indicative of the impact of other viral respiratory infections as well. This highlights the importance of measures to prevent and control the spread of respiratory pathogens among this group.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13475619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711123","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":"Association of body mass index with mortality in COPD through exacerbations and cardiovascular events.","authors":"Hyun Woo Lee, Sang Hyuk Kim, Tae-Hyung Kim, Seung Won Ra, Won-Yeon Lee, Min Kwang Byun, Chang-Hoon Lee, Deog Kyeom Kim, Kwang Ha Yoo, Yong Il Hwang","doi":"10.1136/bmjresp-2026-004358","DOIUrl":"10.1136/bmjresp-2026-004358","url":null,"abstract":"<p><strong>Introduction: </strong>The mechanisms through which body mass index (BMI) influences the prognosis of chronic obstructive pulmonary disease (COPD) remain poorly understood. This study investigates whether BMI influences all-cause mortality in patients with COPD through mediating effects of exacerbations and cardiovascular events.</p><p><strong>Methods: </strong>Data were obtained from a multicentre prospective COPD cohort (NCT02800499). BMI was assessed both continuously and categorically as <23 (low), 23-27 (normal) and >27 kg/m² (high). The primary outcome was all-cause mortality and secondary outcomes were moderate-to-severe exacerbations and cardiovascular events. Mediation analyses were applied to quantify the contribution of these events to the association between BMI and all-cause mortality.</p><p><strong>Results: </strong>Among 3314 patients with COPD, those with low BMI had a higher risk of mortality (adjusted OR, 1.46; 95% CI 1.04 to 2.07), whereas no significant difference was observed among those with high BMI. Mediation analyses indicated that exacerbations partially mediated the relationship between BMI and all-cause mortality, explaining 11.9% of the increased mortality among patients with low BMI and 21.9% of the reduced mortality among those with high BMI. Meanwhile, cardiovascular events showed mediating effects in the opposite direction, contributing to 5.2% lower mortality among patients with low BMI and 11.5% higher mortality among those with high BMI.</p><p><strong>Conclusions: </strong>BMI was non-linearly associated with all-cause mortality in COPD. Exacerbations mediated the excess mortality risk among patients with low BMI, whereas the decreasing risk of cardiovascular events in this group contributed to a countervailing effect that tempered the overall association between low BMI and mortality.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13475264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711166","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":"Exploring expectations of music interventions in pulmonary rehabilitation: a cross-sectional survey protocol.","authors":"Michel Roger Koopmans, Meike Shedden Mora, Jan Van Busschbach, Markus Klimek","doi":"10.1136/bmjresp-2026-004296","DOIUrl":"10.1136/bmjresp-2026-004296","url":null,"abstract":"<p><strong>Introduction: </strong>Music interventions by listening to recorded music have been associated with the alleviation of breathlessness and the improvement of physical outcomes in the context of pulmonary rehabilitation. Results of these studies, however, should be interpreted carefully since study protocols have been heterogeneous and findings inconsistent. Studies are subject to selection bias and the effect of music interventions is assumed to depend partly on a placebo effect, increasing effectiveness when pre-treatment expectations are higher. In combination with low costs and negligible side effects, implementation of music interventions would be feasible, but they have not been structurally implemented in pulmonary rehabilitation settings yet. Before making efforts on implementing an appropriate music intervention, current use, demands and treatment expectations on music interventions of the target population and their healthcare professionals are to be explored. This study aims to explore the current use of music interventions among patients enrolled in pulmonary rehabilitation and gain insight into the expectations of patients and their caregivers regarding its effect on breathlessness and exercise tolerance.</p><p><strong>Methods and analysis: </strong>This paper describes the protocol for a cross-sectional survey consisting of a single questionnaire among patients and their healthcare professionals. The questionnaire into expectations regarding music interventions was developed and validated through a systematic and iterative process. After data collection, descriptive statistics will be performed. Cronbach's alpha will be calculated to measure the questionnaire's internal consistency. Correlation analysis will be performed between baseline characteristics and level of expectation for music interventions.</p><p><strong>Ethics and dissemination: </strong>This study received approval of the institutional review board of the Erasmus Medical Center, The Netherlands (reference number MEC-2025-0703). Results will be disseminated through a peer-reviewed scientific publication, and raw data will be made available on reasonable request to support implementation.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148683527","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":"Parental asthma and childhood asthma phenotypes: maternal associations with persistent asthma.","authors":"Marianne Rørholt Grefslie, Siri Eldevik Håberg, Maria C Magnus, Tone K Omsland, Per Magnus","doi":"10.1136/bmjresp-2026-004245","DOIUrl":"10.1136/bmjresp-2026-004245","url":null,"abstract":"<p><strong>Background: </strong>Maternal asthma has been more strongly associated with asthma in offspring than paternal asthma, but the influence of parental asthma on distinct asthma phenotypes remains unclear.</p><p><strong>Methods: </strong>We studied 16 055 children from the Norwegian Mother, Father and Child Cohort Study (MoBa). Parental asthma was reported at recruitment and classified as no parental asthma (reference), maternal asthma only, paternal asthma only or both parents with asthma. Offspring asthma was assessed at ages 3, 7 and 14 years through questionnaire-based parental reports, and four phenotypes were defined: never asthma, early-onset transient, early-onset persistent and late-onset asthma. Logistic regression was used to estimate associations between parental asthma status and offspring phenotypes, adjusting for sociodemographic, lifestyle and atopic factors, including atopic eczema and pollen/hay fever.</p><p><strong>Results: </strong>Offspring asthma phenotypes were distributed as follows: never asthma 88.8%, early-onset transient asthma 3.3%, early-onset persistent asthma 2.7% and late-onset asthma 5.2%. Maternal asthma was associated with increased odds of all offspring asthma phenotypes: early-onset transient asthma (OR 2.09, 95% CI 1.52 to 2.88), early-onset persistent asthma (OR 3.47, 95% CI 2.56 to 4.71) and late-onset asthma (OR 2.18, 95% CI 1.69 to 2.81). Paternal asthma showed similar associations, although point estimates were generally smaller: early-onset transient asthma (OR 2.01, 95% CI 1.48 to 2.73), early-onset persistent asthma (OR 2.49, 95% CI 1.81 to 3.44) and late-onset asthma (OR 1.85, 95% CI 1.44 to 2.38). Asthma in both parents was most strongly associated with early-onset persistent asthma (OR 5.34, 95% CI 2.86 to 9.98), whereas associations with early-onset transient and late-onset asthma were smaller and accompanied by wider CIs. The overall pattern of associations was similar across analyses stratified by parental atopy.</p><p><strong>Conclusions: </strong>Associations with maternal asthma were more pronounced than those with paternal asthma, particularly for early-onset persistent and late-onset phenotypes, although CIs overlapped for most comparisons. In contrast, early-onset transient asthma showed less differentiation by parental asthma status.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148696877","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":"Monoclonal antibody therapy in patients with severe asthma and COPD: rethinking treatment pathways and success.","authors":"Rachel Burton, Maria Puthoor, Fred Fyles, Lisa Lewis, Hannah Joplin, Hassan Burhan","doi":"10.1136/bmjresp-2026-004232","DOIUrl":"10.1136/bmjresp-2026-004232","url":null,"abstract":"<p><p>The new National Institute for Health and Care Excellence (NICE) guidance on the use of dupilumab in chronic obstructive pulmonary disease (COPD) recommends using dupilumab as an add-on therapy for patients with uncontrolled COPD and raised blood eosinophils who either have one severe exacerbation or two moderate exacerbations despite triple therapy. This contrasts with the guidance for commencing and continuing monoclonal antibody therapy (MAb) in asthma and will have significant implications for severe asthma services caring for patients with coexisting asthma and COPD or those with asthma and a significant smoking history. Patients with asthma and COPD often experience poorer outcomes than patients with asthma or COPD alone. They are traditionally managed according to asthma pharmacotherapy guidelines; however, under the new guidance this may change. Our perspective is supported by local audit data helping us to reflect on our current practice as a large tertiary severe asthma service of initiating MAb in patients with coexisting asthma and COPD.Disparities in eligibility and access to dupilumab in asthma and COPD guidelines expose key challenges about the best clinical setting for managing patients with coexisting disease, the need for distinct treatment pathways and personalised definitions of treatment success, and whether the current positioning of dupilumab as a second-line therapy within severe asthma pathways in England remains appropriate. Addressing these issues will be critical to supporting equitable clinically appropriate access to monoclonal antibodies in patients with coexisting asthma and COPD in the future.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148648237","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":"Long-term cardiopulmonary function in children treated for empyema: comparison of chest drain with fibrinolytics and video-assisted thoracoscopic surgery.","authors":"Yoshua Selvadurai, Brendan Kennedy, Jamie Mcbride, Penelope Field, Bahaven Jeyaratnam, Jonathan Karpelowsky, Paul Robinson, Dominic A Fitzgerald, Melinda Solomon, Andrew Bush, Adam Jaffe, Hiran Selvadurai","doi":"10.1136/bmjresp-2026-004306","DOIUrl":"10.1136/bmjresp-2026-004306","url":null,"abstract":"<p><strong>Background: </strong>Complicated pneumonia in children can result in an empyema. The management options include chest drain insertion with fibrinolytic therapy (CDF) and video-assisted thoracoscopic surgery (VATS) with decortication. No studies have compared the long-term cardiopulmonary impact of treatment interventions using sensitive static and dynamic assessments of lung function.</p><p><strong>Aim: </strong>To compare long-term cardiopulmonary function outcomes in children with empyema treated with CDF with those who underwent VATS using highly sensitive static and dynamic lung function measures.</p><p><strong>Methods: </strong>Children aged >8 years at the time of testing who were previously hospitalised with empyema and treated with either CDF or VATS were prospectively recruited. At one hospital, children were only treated by VATS, whereas CDF was used exclusively at the other site. As both sites belonged to the same network, all other aspects of treatment protocols were identical, and clinicians worked across both sites. Healthy controls were assessed as a comparison. Lung function testing included spirometry, lung volumes, multiple-breath washout (lung clearance index), oscillometry and cardiopulmonary exercise testing, all performed according to international standards.</p><p><strong>Results: </strong>51 children treated with CDF, 28 treated with VATS and 24 healthy controls participated in this study. Spirometry and lung clearance index were normal across all groups. However, oscillometry revealed significantly lower reactance in both treatment groups compared with controls (respiratory system reactance at 5 Hz: CDF -2.54 (0.98), VATS -4.08 (0.94), controls -0.24 (0.85)), with VATS showing greater impairment. The ratio of minute ventilation to oxygen uptake was highest in the VATS group compared with CDF and controls (39.7 (2.8), 36.8 (3.2) and 32.2 (2.7), respectively).</p><p><strong>Conclusion: </strong>Long-term pulmonary outcomes following both CDF and VATS were generally reassuring. However, oscillometry and exercise testing revealed subtle differences in ventilatory strategies, with children post-VATS demonstrating mild residual impairment.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13423078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148629526","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":"Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.","authors":"Stefano Mocci, Roberto Littera, Silvia Deidda, Federica Cannas, Chiara Cocco, Michela Lorrai, Caterina Mereu, Michela Murgia, Giulia Nutile, Francesco Lai, Celeste Sanna, Laura Serventi, Gaia Tosone, Elena Zedda, Erika Giuressi, Sara Lai, Andrea Perra, Matteo Floris, Sabrina Giglio","doi":"10.1136/bmjresp-2025-003625","DOIUrl":"10.1136/bmjresp-2025-003625","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease in which both environmental exposures and genetic predisposition contribute to disease susceptibility. Studying the burden of rare variants in a genetically homogeneous founder population may help identify disease-associated alleles that are difficult to detect in more heterogeneous populations.</p><p><strong>Methods: </strong>Whole exome sequencing was performed on 123 patients with IPF and 1110 unrelated controls from Sardinia (Italy). Variant prioritisations were conducted according to the American College of Medical Genetics (ACMG) guidelines. In parallel, gene burden of rare predicted loss-of-function variants was assessed using the Cohort Allelic Sums Test (CAST) algorithm to identify genes significantly enriched in IPF cases compared with controls.</p><p><strong>Results: </strong>Pathogenic or likely pathogenic variants in known telomere-related genes were identified in 11.4% of patients. These variants were associated with younger age at diagnosis and a higher prevalence among never-smokers. CAST analysis identified a significant enrichment of loss-of-function variants in 82 genes, including <i>MUC5B</i> (OR=443.1, false discovery rate=3.7E-05), functionally related to cilium organisation and motility, with a significant overrepresentation of dynein-related genes.</p><p><strong>Conclusions: </strong>This study supports the contribution of telomere-related variants to IPF susceptibility and suggests a possible role for rare variants affecting mucociliary pathways. Together, these findings broaden the current understanding of IPF biology in this cohort. The distinctive genetic background of the Sardinian population may have facilitated the identification of rare or population-specific variants, underscoring the potential value of founder populations in complex disease genetics.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13423060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148629580","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":"Treatable traits approach for personalised management of sarcoidosis.","authors":"Francesco Amati, Anna Stainer, Letizia Corinna Morlacchi, Rocco Francesco Rinaldo, Davide Biondini, Francesco Blasi, Paolo Solidoro, Stefano Aliberti, Paolo Spagnolo","doi":"10.1136/bmjresp-2025-003919","DOIUrl":"10.1136/bmjresp-2025-003919","url":null,"abstract":"<p><p>In sarcoidosis, personalised strategies that consider the various phenotypes and endotypes of the disease have the potential to improve patient care. The 'treatable traits' (TT) approach offers a promising strategy that has already been proposed and implemented in several other chronic pulmonary diseases. In this review, we propose five distinct TT categories for patients with sarcoidosis: aetiological, lifestyle, pulmonary, extrapulmonary (systemic) and comorbidities.Despite the potential of this strategy, several challenges hinder its implementation. In addition, much of the knowledge on the definition and prevalence of TTs comes from single-centre studies. Creating international registries will enhance our understanding and provide more accurate data on these traits.TTs are dynamic and require continuous evaluation to effectively respond to changes caused by disease progression or treatment response. A multidisciplinary management approach is therefore crucial as sarcoidosis can impact multiple organs. Integrating primary care physicians into the management framework will improve overall patient care.Incorporating patient preferences into the TT strategy is vital for improving adherence to treatment. Additionally, using patient-reported outcome measures will provide valuable insights into the impact of treatment.While the TT approach is feasible in developed healthcare systems, challenges exist in resource-limited settings. Advancing patient-centred care towards 5P medicine involves addressing key TTs that meet the unique patient needs.Therefore, randomised controlled trials focused on TTs are needed. Our proposed TT strategy aims to enhance quality of life and outcomes for patients with sarcoidosis while increasing awareness of the importance of TTs among healthcare providers and advocacy groups.</p>","PeriodicalId":9048,"journal":{"name":"BMJ Open Respiratory Research","volume":"13 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13423189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148617965","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}