医学最新文献

{"title":"Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome.","authors":"P Laveneziana, Q Fossé, M Bret, M Patout, B Dudoignon, C Llontop, C Morélot-Panzini, F Cayetanot, L Bodineau, C Straus, T Similowski","doi":"10.1016/j.pulmoe.2024.01.005","DOIUrl":"10.1016/j.pulmoe.2024.01.005","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>The human congenital central hypoventilation syndrome (CCHS) is caused by mutations in the PHOX2B (paired-like homeobox 2B) gene. Genetically engineered PHOX2B rodents exhibit defective development of the brainstem retrotrapezoid nucleus (RTN), a carbon dioxide sensitive structure that critically controls expiratory muscle recruitment. This has been linked to a blunted exercise ventilatory response. Whether this can be extrapolated to human CCHS is unknown and represents the objective of this study.</p><p><strong>Materials and methods: </strong>Thirteen adult CCHS patients and 13 healthy participants performed an incremental symptom-limited cycle cardiopulmonary exercise test. Responses were analyzed using guideline approaches (ventilation V'_E, tidal volume V_T, breathing frequency, oxygen consumption, carbon dioxide production) complemented by a breathing pattern analysis (i.e. expiratory and inspiratory reserve volume, ERV and IRV).</p><p><strong>Results: </strong>A ventilatory response occurred in both study groups, as follows: V'_E and V_T increased in CCHS patients until 40 W and then decreased, which was not observed in the healthy participants (<i>p</i><0.001). In the latter, exercise-related ERV and IRV decreases attested to concomitant expiratory and inspiratory recruitment. In the CCHS patients, inspiratory recruitment occurred but there was no evidence of expiratory recruitment (absence of any ERV decrease, <i>p</i><0.001).</p><p><strong>Conclusions: </strong>Assuming a similar organization of respiratory rhythmogenesis in humans and rodents, the lack of exercise-related expiratory recruitment observed in our CCHS patients is compatible with a PHOX2B-related defect of a neural structure that would be analogous to the rodents' RTN. Provided corroboration, ERV recruitment could serve as a physiological outcome in studies aiming at correcting breathing control in CCHS.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416790"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974560","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}

{"title":"Development and evaluation of spirometry reference equations at high altitude.","authors":"Yanyan Li, Zhenzhen Xing, Xiangda Zhang, Yanlu Hu, Yanfei Guo","doi":"10.1080/25310429.2024.2433862","DOIUrl":"https://doi.org/10.1080/25310429.2024.2433862","url":null,"abstract":"<p><p>Approximately 400 million people live at high altitudes worldwide, yet reference equations for spirometry in these populations are inadequately documented. This study aims to develop reference equations for spirometry and assess their applicability to residents at altitudes ranging from 2,100 to 4,700 metres above sea level. This extensive cross-sectional study encompassed healthy non-smokers aged 15 years or older living at Xinjiang and Tibet autonomous region, which covered eight high-altitude areas by a multistage stratified sampling procedure. All individuals underwent pre- and post-bronchodilator measurement. We used the Lambda-Mu-Sigma (LMS) method to establish reference equations for various spirometry parameters. We assessed model fit using mean absolute error (MAE), mean absolute percentage error (MAPE), and residual values (standard deviation), relative to established benchmarks such as GLI, ECSC, and NHANES III, to evaluate the applicability of our equations to high-altitude residents. Between June 2015 and August 2016, 3174 healthy subjects were included. The reference equations utilise age and height as independent variables, with improved accuracy achieved through spline functions. Our spirometry reference equations demonstrate minimal MAE, MAPE, and residual values (standard deviation) for most of the analysed spirometry parameters, stratified by gender. Our spirometry reference equations are more applicable to residents of high-altitude regions.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2433862"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781218","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}

{"title":"Geographical variation in lung function: Results from the multicentric cross-sectional BOLD study.","authors":"Peter G J Burney, James Potts, Ben Knox-Brown, Gregory Erhabor, Hamid Hacene Cherkaski, Kevin Mortimer, Mahesh Padukudru Anand, David M Mannino, Joao Cardoso, Rana Ahmed, Asma Elsony, Cristina Barbara, Rune Nielsen, Eric Bateman, Stefanni Nonna M Paraguas, Li Cher Loh, Abdul Rashid, Emiel Fm Wouters, Frits Me Franssen, Hermínia Brites Dias, Thorarinn Gislason, Mohammed Al Ghobain, Mohammed El Biaze, Dhiraj Agarwal, Sanjay Juvekar, Fatima Rodrigues, Daniel O Obaseki, Parvaiz A Koul, Imed Harrabi, Asaad A Nafees, Terence Seemungal, Christer Janson, William M Vollmer, Andre Fs Amaral, A Sonia Buist","doi":"10.1080/25310429.2024.2430491","DOIUrl":"10.1080/25310429.2024.2430491","url":null,"abstract":"<p><p>Spirometry is used to determine what is \"unusual\" lung function compared with what is \"usual\" for healthy non-smokers. This study aimed to investigate regional variation in the forced vital capacity (FVC) and in the forced expiratory volume in one second to FVC ratio (FEV₁/FVC) using cross-sectional data from all 41 sites of the multinational Burden of Obstructive Lung Disease study. Participants (5,368 men; 9,649 women), aged ≥40 years, had performed spirometry, had never smoked and reported no respiratory symptoms or diagnoses. To identify regions with similar FVC, we conducted a principal component analysis (PCA) on FVC with age, age² and height², separately for men and women. We regressed FVC against age, age² and height², and FEV₁/FVC against age and height², for each sex and site, stratified by region. Mean age was 54 years (both sexes), and mean height was 1.69 m (men) and 1.61 m (women). The PCA suggested four regions: 1) Europe and richer countries; 2) the Near East; 3) Africa; and 4) the Far East. For the FVC, there was little variation in the coefficients for age, or age², but considerable variation in the constant (men: 2.97 L in the Far East to 4.08 L in Europe; women: 2.44 L in the Far East to 3.24 L in Europe) and the coefficient for height². Regional differences in the constant and coefficients for FEV₁/FVC were minimal (<1%). The relation of FVC with age, sex and height varies across and within regions. The same is not true for the FEV₁/FVC ratio.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2430491"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11627206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787928","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}

{"title":"Effectiveness and use of home high flow nasal cannula in Portugal: Where are we?","authors":"Cristina Jácome, Mónica Duarte, João Carlos Winck, Salvador Díaz Lobato, Cátia Caneiras","doi":"10.1080/25310429.2024.2423556","DOIUrl":"https://doi.org/10.1080/25310429.2024.2423556","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2423556"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802476","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}

{"title":"Performance of helmet CPAP using different configurations: Turbine-driven ventilators <i>vs</i> Venturi devices.","authors":"A Noto, A Cortegiani, G Genoese, L Appendini, C Gregoretti, A Carlucci, C Crimi","doi":"10.1016/j.pulmoe.2023.04.009","DOIUrl":"10.1016/j.pulmoe.2023.04.009","url":null,"abstract":"<p><strong>Background: </strong>Traditionally, Venturi-based flow generators have been preferred over mechanical ventilators to provide continuous positive airway pressure (CPAP) through the helmet (h-CPAP). Recently, modern turbine-driven ventilators (TDVs) showed to be safe and effective in delivering h-CPAP. We aimed to compare the pressure stability during h-CPAP delivered by Venturi devices and TDVs and assess the impact of High Efficiency Particulate Air (HEPA) filters on their performance.</p><p><strong>Methods: </strong>We performed a bench study using an artificial lung simulator set in a restrictive respiratory condition, simulating two different levels of patient effort (high and low) with and without the interposition of the HEPA filter. We calculated the average of minimal (Pmin), maximal (Pmax) and mean (Pmean) airway pressure and the time product measured on the airway pressure curve (PTPinsp). We defined the pressure swing (Pswing) as Pmax - Pmin and pressure drop (Pdrop) as End Expiratory Pressure - Pmin.</p><p><strong>Results: </strong>Pswing across CPAP levels varied widely among all the tested devices. During \"low effort\", no difference in Pswing and Pdrop was found between Venturi devices and TDVs; during high effort, Pswing (p<0.001) and Pdrop (p<0.001) were significantly higher in TDVs compared to Venturi devices, but the PTPinsp was lower (1.50 SD 0.54 vs 1.67 SD 0.55, p<0.001). HEPA filter addition almost doubled Pswing and PTPinsp (p<0.001) but left unaltered the differences among Venturi and TDVs systems in favor of the latter (p<0.001).</p><p><strong>Conclusions: </strong>TDVs performed better than Venturi systems in delivering a stable positive pressure level during h-CPAP in a bench setting.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416789"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9542198","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}

{"title":"Can we rely on single use bronchoscopes in central airway obstruction management? A preliminary, open label randomised controlled trial.","authors":"Filip Popovic, Goran Glodic, Denis Baricevic, Viktor Domislovic, Miroslav Samarzija, Sonja Badovinac","doi":"10.1080/25310429.2024.2443218","DOIUrl":"https://doi.org/10.1080/25310429.2024.2443218","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2443218"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866457","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}

{"title":"Launching a debate: Physical activity in people with chronic respiratory diseases.","authors":"Mara Paneroni, Michele Vitacca, Nicolino Ambrosino","doi":"10.1080/25310429.2024.2445408","DOIUrl":"https://doi.org/10.1080/25310429.2024.2445408","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2445408"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877980","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}

{"title":"Associations of anxiety and depression with prognosis in chronic obstructive pulmonary disease: A systematic review and meta-analysis.","authors":"Kefan Wu, Lifei Lu, Yubiao Chen, Jieqi Peng, Xiaohui Wu, Gaoying Tang, Ting Ma, Jing Cheng, Pixin Ran, Yumin Zhou","doi":"10.1080/25310429.2024.2438553","DOIUrl":"10.1080/25310429.2024.2438553","url":null,"abstract":"<p><p>The associations between anxiety, depression, and the prognosis of COPD remain uncertain. The present study aims to investigate the associations of anxiety and depression with 30-day readmission rates and acute exacerbations of COPD (AECOPD). Four databases were searched to identify relevant studies published before 13 March 2024. Studies that report on the impact of anxiety and depression on the prognosis of AECOPD were included. The pooled effect size and its 95% confidence interval (CI) were calculated using a random effects model. The primary outcomes were 30-day readmission and AECOPD within the first year after discharge in COPD patients. Of the 5,955 studies screened, 14 studies were included in the analysis. Patients with anxiety had a higher risk of AECOPD within the first year after discharge compared to those without anxiety (HR: 2.10, 95% CI: 1.28-3.45, <i>p</i> = 0.003). Patients with depression also had a higher risk of AECOPD within the first year after discharge (HR: 1.36, 95% CI: 1.10-1.69, <i>p</i> = 0.004). Similar results were observed in the associations of anxiety and depression with 30-day readmission. Our results suggested that anxiety and depression were associated with an increased risk of 30-day readmission and AECOPD in patients with COPD.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2438553"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820090","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}

{"title":"Benign ectopic intrapulmonary thyroid: Further proof of its existence.","authors":"Jeffy Mathew, Nao Hara, Liying Han, Samuel J McCabe, Oleg Epelbaum","doi":"10.1080/25310429.2024.2435092","DOIUrl":"https://doi.org/10.1080/25310429.2024.2435092","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2435092"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752285","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}

{"title":"Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.","authors":"Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico","doi":"10.1080/25310429.2024.2429911","DOIUrl":"https://doi.org/10.1080/25310429.2024.2429911","url":null,"abstract":"<p><p>Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on the Z variant. Nevertheless, over 500 single nucleotide variations in the <i>SERPINA1</i> gene have been identified. We investigated the clinical presentation of subjects with severe AAT deficiency due to rare genotypes of the <i>SERPINA1</i> gene. We enrolled patients from the Italian Registry for AATD (RIDA1) with the following inclusion criteria: diagnosis of severe AATD; age >18 years; full clinical data available at diagnosis; three years of follow-up respiratory function data. A total of 281 patients were enrolled from the RIDA1 Registry and subdivided into 3 cohorts: PI*ZZ genotype (n = 160), PI*SZ genotype (n = 54), and rare genotypes PI*R (n = 67). We did not observe any statistical differences among the cohorts regarding sex, smoking habits, occupational exposure and age at diagnosis. Patients with severe AATD due to rare genotypes have clinical characteristics and respiratory profiles similar to PI*ZZ subjects, and differed from the PI*SZ patient group. Early and accurate diagnosis of PI*R subjects is therefore important for their appropriate clinical management.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2429911"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774719","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}