European Respiratory Journal最新文献

{"title":"Pulmonary hypertension in patients carrying <i>FLNA</i> loss-of-function variants.","authors":"Laura Stourm, Julien Grynblat, Laurent Savale, Thomas Lacoste-Palasset, Xavier Jaïs, Florence Coulet, Marilyne Levy, Olivier Meyrignac, Maria-Rosa Ghigna, Vincent Cottin, Olivier Sitbon, Damien Bonnet, Francois Goupil, Marc Humbert, Frederic Gagnadoux, David Montani","doi":"10.1183/13993003.01132-2024","DOIUrl":"10.1183/13993003.01132-2024","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary hypertension (PH) is an unusual complication of X-linked disease caused by loss-of-function (LOF) variants in the filamin A (<i>FLNA</i>) gene. Patients with <i>FLNA</i> LOF may also present dysmorphic facial features, aortic dilation, thrombocytopenia and periventricular nodular heterotopia (PVNH).</p><p><strong>Methods: </strong>We reported the clinical, functional, haemodynamic and radiological characteristics of patients with <i>FLNA</i> LOF variants and PH from the French PH Network.</p><p><strong>Results: </strong>Nine patients were identified with a female:male ratio of 8:1. PH was diagnosed at a median (range) age of 36 (0-69)<b> </b>years. Associated conditions included epilepsy (n=5), PVNH (n=7), valvular heart disease (n=8), congenital heart diseases (n=4), thrombocytopenia (n=4) and hyperlaxity (n=4). Right heart catheterisation confirmed moderate-to-severe pre-capillary PH with a median (range) mean pulmonary arterial pressure of 33 (22-49)<b> </b>mmHg and pulmonary vascular resistance of 4.7 (2.4-8.0)<b> </b>WU. The median (range) diffusing capacity of the lung for carbon monoxide corrected for haemoglobin was markedly decreased (48% (22-64%) of predicted values) and five patients had obstructive ventilatory disorder. High-resolution computed tomography showed heterogeneous parenchyma (n=8), emphysema (n=3), presence of a peripheral hyperclear band (n=3) and aortic ectasia (n=4). Pathological assessment available in one patient revealed significant remodelling of small pulmonary arteries, interstitial oedema and irregular alveoli shapes. During follow-up, three patients died, including two from right heart failure. No patient died from aortic rupture.</p><p><strong>Conclusions: </strong>Pre-capillary PH, likely due to multiple mechanisms, may complicate the course of patients with <i>FLNA</i> LOF variants and may be the presenting symptom leading to diagnosis. The combination of PH with parenchymal involvement and extrapulmonary symptoms (epilepsy, congenital heart diseases, valvular and aortic involvement, and thrombocytopenia) should prompt genetic screening for <i>FLNA</i>.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: Strengths and limitations of using health administrative databases to understand the impact of Philips Respironics recall on long-term adverse health outcomes.","authors":"Tetyana Kendzerska, Robert Talarico, Sachin R Pendharkar, Marcus Povitz","doi":"10.1183/13993003.02035-2024","DOIUrl":"https://doi.org/10.1183/13993003.02035-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 3","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contemporary pulmonary hypertension haemodynamic definitions stratify mortality risk in candidates for advanced heart failure therapies.","authors":"Stephen P Wright, Elizabeth Karvasarki, Tayler A Buchan, Vikram Gurtu, Michael Zarathus-Cook, Michael A McDonald, Ana C Alba, Susanna Mak","doi":"10.1183/13993003.01640-2024","DOIUrl":"10.1183/13993003.01640-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survival trends in patients with chronic thromboembolic pulmonary hypertension: An observational study.","authors":"Takatoyo Kiko, Ryotaro Asano, Yusuke Yoshikawa, Hiroyuki Endo, Shinya Fujisaki, Ryo Takano, Mitsumasa Akao, Naruhiro Nishi, Hiroya Hayashi, Soshiro Ogata, Akiyuki Kotoku, Hiroki Horinouchi, Yosuke Inoue, Jin Ueda, Yoshimasa Seike, Akihiro Tsuji, Tetsuya Fukuda, Kunihiro Nishimura, Hitoshi Matsuda, Takeshi Ogo","doi":"10.1183/13993003.02268-2024","DOIUrl":"https://doi.org/10.1183/13993003.02268-2024","url":null,"abstract":"<p><strong>Background: </strong>Treatment options for patients with chronic thromboembolic hypertension (CTEPH) have increased over the past decade. However, it is unknown whether the outcomes of patients with CTEPH have changed as well.</p><p><strong>Methods: </strong>This retrospective study analysed the data of 834 patients with CTEPH, categorised into early (April 1980-December 1999), middle (January 2000-September 2010), and current (October 2010-December 2023) eras. The primary endpoint was all-cause mortality. Multivariable Cox proportional hazards models were used to assess changes in all-cause mortality after adjusting for confounding variables.</p><p><strong>Results: </strong>Ninety-five, 210, and 529 patients were from the early, middle, and current eras, respectively. The proportion of patients who did not receive CTEPH therapy decreased from 65% in the early era to 36% and 3% in the middle and current eras, respectively. Meanwhile, the adoption of multimodal treatment increased from 0% to 58% over time. The Kaplan-Meier analysis revealed significant improvements in overall survival (log-rank <i>p</i><0.001). The 5-year survival rates improved from 68% in the early era to 85% and 93% in the middle and current eras, respectively. The adjusted hazard ratios for mortality were 0.291 (95% confidence interval [CI]: 0.154-0.550; <i>p</i><0.001) for the early <i>versus</i> middle era, 0.447 (95% CI: 0.249-0.804; p=0.007) for the middle <i>versus</i> current era, and 0.130 (95% CI: 0.067-0.254; <i>p</i><0.001) for the early <i>versus</i> current era.</p><p><strong>Conclusions: </strong>The long-term prognosis of patients with CTEPH has significantly improved in recent decades.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concerns regarding cohort construction and selection bias in the study of PAP devices and cancer incidence.","authors":"Xiaonu Peng, Xiaofeng Yu, Haibo Huang, Peng Hao, Wei Zhang, Wenjun Li","doi":"10.1183/13993003.01870-2024","DOIUrl":"https://doi.org/10.1183/13993003.01870-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 3","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unbreak my heart: macrolide cardiovascular benefits and safety in bronchiectasis.","authors":"Benjamin Jaaming New, James D Chalmers","doi":"10.1183/13993003.00045-2025","DOIUrl":"https://doi.org/10.1183/13993003.00045-2025","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 3","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent respiratory papillomatosis in adults with lower respiratory tract involvement: a retrospective study of the OrphaLung and GETIF networks.","authors":"Romy Ratsihorimanana, Thomas Maitre, Matthieu Dusselier, Minh Triet Ngo, Gilles Mangiapan, Clément Fournier, Arnaud Bourdin, Stephane Jouneau, Maroun Matar, Nicolas Favrolt, Thomas Egenod, Jean Michel Vergnon, Delphine Wermert, Jean François Boitiaux, Raphael Borie, Raffaele Caliandro, Olivia Freynet, Valérie Gounant, Julie Mankikian, Juliette Camuset, Alexandre Elabbadi, Antoine Parrot, Julien Calvani, Marc Fortin, Nicolas Guibert, Vincent Cottin, Jacques Cadranel","doi":"10.1183/13993003.00618-2024","DOIUrl":"10.1183/13993003.00618-2024","url":null,"abstract":"<p><strong>Background: </strong>Recurrent respiratory papillomatosis (RRP) is a rare respiratory disease primarily caused by chronic human papillomavirus (HPV) infection of serotypes 6 and 11. It manifests in childhood (juvenile-onset recurrent respiratory papillomatosis (JoRRP)) and adulthood (adult-onset recurrent respiratory papillomatosis (AoRRP)), leading to progressive obstruction by papillomas in the upper airway and occasionally in the lower respiratory tract (LRT), including the lungs, with a potential for malignant transformation. This study aimed to delineate the characteristics of JoRRP and AoRRP with LRT involvement in adulthood.</p><p><strong>Methods: </strong>A multicentre French-speaking cohort study was conducted, coupled with a comprehensive literature review of clinical, histological, therapeutic and prognostic features associated with RRP with LRT involvement.</p><p><strong>Results: </strong>Among the 122 cases of RRP with LRT involvement analysed, 55 (45%) had JoRRP and 67 (55%) had AoRRP. The mean age at diagnosis was 4 years for JoRRP and 54 years for AoRRP. Ear, nose and throat involvement was observed in all JoRRP cases and in 34 AoRRP cases (51%). Lung involvement occurred in 47 JoRRP cases (85%) and in 10 AoRRP cases (15%). Malignant transformation to squamous cell carcinoma in the trachea (n=6) or lung (n=36) was observed in 42 patients (34%). Factors associated with lung involvement included JoRRP, repeated debulking and malignant transformation; the only factor associated with malignant transformation was lung involvement. Overall mortality was 16%, with JoRRP, lung involvement and malignant transformation identified as risk factors for death.</p><p><strong>Conclusion: </strong>This study highlights the prevalence of lung involvement and malignant transformation in RRP with LRT involvement and advocates for targeted screening measures and preventive therapeutic strategies.</p>","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":" ","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary endarterectomy on thin ice: improving risk estimation.","authors":"Bernhard Moser, Clemens Aigner","doi":"10.1183/13993003.02369-2024","DOIUrl":"https://doi.org/10.1183/13993003.02369-2024","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 3","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-linked filaminopathy: another pulmonary hypertension syndrome.","authors":"Eric D Austin","doi":"10.1183/13993003.00073-2025","DOIUrl":"https://doi.org/10.1183/13993003.00073-2025","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 3","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>ERJ</i> Podcast February 2025: Pre- and post-bronchodilator spirometry in COPD.","authors":"","doi":"10.1183/13993003.E6502-2025","DOIUrl":"https://doi.org/10.1183/13993003.E6502-2025","url":null,"abstract":"","PeriodicalId":12265,"journal":{"name":"European Respiratory Journal","volume":"65 2","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143530979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}