Pub Date : 2025-12-31Epub Date: 2025-02-17DOI: 10.1080/25310429.2025.2466924
Matheus Negri Boschiero, Camila Vantini Capasso Palamim, Tais Mendes Camargo, Fernando Augusto Lima Marson
{"title":"The rise of old villains: the vaccination downfall worldwide.","authors":"Matheus Negri Boschiero, Camila Vantini Capasso Palamim, Tais Mendes Camargo, Fernando Augusto Lima Marson","doi":"10.1080/25310429.2025.2466924","DOIUrl":"https://doi.org/10.1080/25310429.2025.2466924","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2466924"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442531","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":"Weaning from tracheostomy: Trend of decannulation rate over two decades in a respiratory rehabilitation centre.","authors":"Matteo Vigna, Cinzia Lastoria, Annalisa Carlucci, Serena Cirio, Matteo Prazzoli, Piero Ceriana","doi":"10.1080/25310429.2024.2411814","DOIUrl":"https://doi.org/10.1080/25310429.2024.2411814","url":null,"abstract":"","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2411814"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069551","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}
Interleukin-1β is one of the major cytokines involved in the initiation and persistence of airway inflammation in chronic obstructive pulmonary disease (COPD). However, the association between plasma interleukin-1β and lung function decline remains unclear. We aimed to explore the association between plasma interleukin-1β and lung function decline. This longitudinal evaluation of data from the Early COPD study analysed the association between the plasma interleukin-1β concentration, lung function decline, and COPD exacerbation. Overall, 1,328 participants were included in the baseline analysis, and 1,135 (85%) completed the 1-year follow-up. Increased plasma interleukin-1β was associated with accelerated lung function decline in non-smokers (forced expiratory volume in 1 s: per unit natural log-transformed increase, adjusted unstandardised β [95% confidence interval] 101.46 [16.73-186.18] mL/year, p=0.019; forced vital capacity: per unit natural log-transformed increase, adjusted unstandardised β [95% confidence interval] 146.20 [93.65-198.75] mL/year, p<0.001), but not in smokers. In non-smokers, participants with an interleukin-1β concentration in the top 30% (>5.02 pg/mL) had more respiratory symptoms, more severe emphysema and air trapping, and higher levels of inflammation-related biomarkers. In this study, a subgroup with increased plasma interleukin-1β was identified among non-smokers, and increased plasma interleukin-1β was associated with lung function accelerated decline.
{"title":"Increased plasma interleukin-1β is associated with accelerated lung function decline in non-smokers.","authors":"Xinru Ran, Haiqing Li, Zihui Wang, Fan Wu, Zhishan Deng, Qiaorui Zhou, Cuiqiong Dai, Jieqi Peng, Lifei Lu, Kunning Zhou, Pixin Ran, Yumin Zhou","doi":"10.1080/25310429.2024.2411811","DOIUrl":"https://doi.org/10.1080/25310429.2024.2411811","url":null,"abstract":"<p><p>Interleukin-1β is one of the major cytokines involved in the initiation and persistence of airway inflammation in chronic obstructive pulmonary disease (COPD). However, the association between plasma interleukin-1β and lung function decline remains unclear. We aimed to explore the association between plasma interleukin-1β and lung function decline. This longitudinal evaluation of data from the Early COPD study analysed the association between the plasma interleukin-1β concentration, lung function decline, and COPD exacerbation. Overall, 1,328 participants were included in the baseline analysis, and 1,135 (85%) completed the 1-year follow-up. Increased plasma interleukin-1β was associated with accelerated lung function decline in non-smokers (forced expiratory volume in 1 s: per unit natural log-transformed increase, adjusted unstandardised β [95% confidence interval] 101.46 [16.73-186.18] mL/year, p=0.019; forced vital capacity: per unit natural log-transformed increase, adjusted unstandardised β [95% confidence interval] 146.20 [93.65-198.75] mL/year, p<0.001), but not in smokers. In non-smokers, participants with an interleukin-1β concentration in the top 30% (>5.02 pg/mL) had more respiratory symptoms, more severe emphysema and air trapping, and higher levels of inflammation-related biomarkers. In this study, a subgroup with increased plasma interleukin-1β was identified among non-smokers, and increased plasma interleukin-1β was associated with lung function accelerated decline.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":"31 1","pages":"2411811"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068687","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}
Pub Date : 2025-12-31Epub Date: 2024-10-24DOI: 10.1016/j.pulmoe.2023.09.007
N Capsoni, F Zadek, D Privitera, G Parravicini, G V Zoccali, F Galbiati, M Bombelli, R Fumagalli, T Langer
Background: Continuous positive airway pressure (CPAP) is frequently used to treat patients with acute respiratory failure in out-of-hospital settings. Compared to a facemask, the helmet has many advantages for the patient but requires a minimum gas flow of 60 L/min to avoid CO2 rebreathing. The aim of the present bench study was to evaluate the performance of four Venturi devices, connected to a single oxygen cylinder, in delivering helmet-CPAP with clinically relevant gas flow, fraction of inspired oxygen (FiO2), and positive end-expiratory pressure (PEEP) values.
Methods: Three double-inlet Venturi systems (EasyVent, Ventuplus, Compact-HAR) were connected to full 5-L oxygen cylinders using a double flowmeter, and their oxygen requirements to reach different setups (flow 60-80 L/min; FiO2 0.4-0.5-0.6, PEEP 7.5-10-12.5 cmH2O) were tested. The fourth Venturi system (O2-MAX) was directly attached to the tank, and the flow and FiO2 delivered at preset FiO2 0.3 and 0.6 were recorded. The runtime of the cylinder was assessed.
Results: EasyVent, Ventuplus, and O2-MAX were able to deliver helmet-CPAP with clinically useful setups when connected to a single oxygen cylinder, while Compact-HAR did not. The runtime of the cylinders ranged between 28 and 60 minutes according to the preset flow and FiO2. The delivered gas flow decreased slowly and linearly with the drop in cylinder pressure until its exhaustion.
Conclusions: Helmet-CPAP might be provided using portable Venturi systems connected to an oxygen cylinder, but not all of them are able to deliver it. The use of a double flowmeter allows delivery of both high flow and high FiO2 when double-inlet Venturi systems are used. Due to the flow drop observed during the cylinder consumption, a flow >60 L/min should be set when helmet-CPAP is started. Considering the flow drop phenomenon, the estimated duration of the tank runtime can be used with a margin of safety when planning patient transport.
{"title":"Helmet continuous positive airway pressure for patients' transport using a single oxygen cylinder: A bench study.","authors":"N Capsoni, F Zadek, D Privitera, G Parravicini, G V Zoccali, F Galbiati, M Bombelli, R Fumagalli, T Langer","doi":"10.1016/j.pulmoe.2023.09.007","DOIUrl":"10.1016/j.pulmoe.2023.09.007","url":null,"abstract":"<p><strong>Background: </strong>Continuous positive airway pressure (CPAP) is frequently used to treat patients with acute respiratory failure in out-of-hospital settings. Compared to a facemask, the helmet has many advantages for the patient but requires a minimum gas flow of 60 L/min to avoid CO<sub>2</sub> rebreathing. The aim of the present bench study was to evaluate the performance of four Venturi devices, connected to a single oxygen cylinder, in delivering helmet-CPAP with clinically relevant gas flow, fraction of inspired oxygen (FiO<sub>2</sub>)<sub>,</sub> and positive end-expiratory pressure (PEEP) values.</p><p><strong>Methods: </strong>Three double-inlet Venturi systems (EasyVent, Ventuplus, Compact-HAR) were connected to full 5-L oxygen cylinders using a double flowmeter, and their oxygen requirements to reach different setups (flow 60-80 L/min; FiO<sub>2</sub> 0.4-0.5-0.6, PEEP 7.5-10-12.5 cmH<sub>2</sub>O) were tested. The fourth Venturi system (O2-MAX) was directly attached to the tank, and the flow and FiO<sub>2</sub> delivered at preset FiO<sub>2</sub> 0.3 and 0.6 were recorded. The runtime of the cylinder was assessed.</p><p><strong>Results: </strong>EasyVent, Ventuplus, and O2-MAX were able to deliver helmet-CPAP with clinically useful setups when connected to a single oxygen cylinder, while Compact-HAR did not. The runtime of the cylinders ranged between 28 and 60 minutes according to the preset flow and FiO<sub>2</sub>. The delivered gas flow decreased slowly and linearly with the drop in cylinder pressure until its exhaustion.</p><p><strong>Conclusions: </strong>Helmet-CPAP might be provided using portable Venturi systems connected to an oxygen cylinder, but not all of them are able to deliver it. The use of a double flowmeter allows delivery of both high flow and high FiO<sub>2</sub> when double-inlet Venturi systems are used. Due to the flow drop observed during the cylinder consumption, a flow >60 L/min should be set when helmet-CPAP is started. Considering the flow drop phenomenon, the estimated duration of the tank runtime can be used with a margin of safety when planning patient transport.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416826"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415276","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}
Pub Date : 2025-12-31Epub Date: 2024-10-25DOI: 10.1016/j.pulmoe.2023.11.007
A Morais, A C Duarte, M O Fernandes, A Borba, C Ruano, I D Marques, J Calha, J C Branco, J M Pereira, M J Salvador, M Bernardes, N Khmelinskii, P Pinto, R Pinto-Basto, S Freitas, S Campainha, T Alfaro, A Cordeiro
Introduction: Interstitial lung disease (ILD) contributes significantly to morbidity and mortality in connective tissue disease (CTD). Early detection and accurate diagnosis are essential for informing treatment decisions and prognosis in this setting. Clear guidance on CTD-ILD screening, however, is lacking.
Objective: To establish recommendations for CTD-ILD screening based on the current evidence.
Method: Following an extensive literature research and evaluation of articles selected for their recency and relevance to the characterization, screening, and management of CTD-ILD, an expert panel formed by six pulmonologists from the Portuguese Society of Pulmonology, six rheumatologists from the Portuguese Society of Rheumatology, and six radiologists from the Portuguese Society of Radiology and Nuclear Medicine participated in a multidisciplinary discussion to produce a joint statement on screening recommendations for ILD in CTD.
Results: The expert panel achieved consensus on when and how to screen for ILD in patients with systemic sclerosis, rheumatoid arthritis, mixed connective tissue disease, Sjögren syndrome, idiopathic inflammatory myopathies and systemic lupus erythematous.
Conclusions: Despite the lack of data on screening for CTD-ILD, an expert panel of pulmonologists, rheumatologists and radiologists agreed on a series of screening recommendations to support decision-making and enable early diagnosis of ILD to ultimately improve outcomes and prognosis in patients with CTD.
{"title":"Early detection of interstitial lung disease in rheumatic diseases: A joint statement from the Portuguese Pulmonology Society, the Portuguese Rheumatology Society, and the Portuguese Radiology and Nuclear Medicine Society.","authors":"A Morais, A C Duarte, M O Fernandes, A Borba, C Ruano, I D Marques, J Calha, J C Branco, J M Pereira, M J Salvador, M Bernardes, N Khmelinskii, P Pinto, R Pinto-Basto, S Freitas, S Campainha, T Alfaro, A Cordeiro","doi":"10.1016/j.pulmoe.2023.11.007","DOIUrl":"10.1016/j.pulmoe.2023.11.007","url":null,"abstract":"<p><strong>Introduction: </strong>Interstitial lung disease (ILD) contributes significantly to morbidity and mortality in connective tissue disease (CTD). Early detection and accurate diagnosis are essential for informing treatment decisions and prognosis in this setting. Clear guidance on CTD-ILD screening, however, is lacking.</p><p><strong>Objective: </strong>To establish recommendations for CTD-ILD screening based on the current evidence.</p><p><strong>Method: </strong>Following an extensive literature research and evaluation of articles selected for their recency and relevance to the characterization, screening, and management of CTD-ILD, an expert panel formed by six pulmonologists from the Portuguese Society of Pulmonology, six rheumatologists from the Portuguese Society of Rheumatology, and six radiologists from the Portuguese Society of Radiology and Nuclear Medicine participated in a multidisciplinary discussion to produce a joint statement on screening recommendations for ILD in CTD.</p><p><strong>Results: </strong>The expert panel achieved consensus on when and how to screen for ILD in patients with systemic sclerosis, rheumatoid arthritis, mixed connective tissue disease, Sjögren syndrome, idiopathic inflammatory myopathies and systemic lupus erythematous.</p><p><strong>Conclusions: </strong>Despite the lack of data on screening for CTD-ILD, an expert panel of pulmonologists, rheumatologists and radiologists agreed on a series of screening recommendations to support decision-making and enable early diagnosis of ILD to ultimately improve outcomes and prognosis in patients with CTD.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416840"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139040902","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}
Pub Date : 2025-12-31Epub Date: 2024-10-28DOI: 10.1016/j.pulmoe.2024.05.006
Susana Sousa, Sílvia Correia, André Mariz de Almeida, Gabriela Videira, Ricardo Dias, Susana Falardo Ramos, Júlio Fonseca
With the purpose of establishing a consensus around clinical orientations for professionals involved in managing patients with sleep breathing disorders (SBD), an interdisciplinary group of scientific societies involved in this field discussed and reviewed all the published international guidelines from the American Dental Association, American Academy of Sleep Medicine, American Academy of Dental Sleep Medicine and the European counterparts. Treatment of SBD is multidisciplinary and should be made in concert with the patient, the sleep physician, and the qualified dentist to solve the individual, social, and economic burden of the disease. This consensus document represents the current thinking of a team of Portuguese experts on managing patients with SBD based on the available evidence.
{"title":"Treatment of obstructive sleep apnea syndrome (OSAS) with mandibular advancement devices-A statement of the Portuguese Society of Pulmonology, the Portuguese Society of Stomatology and Dental Medicine, the Portuguese Dental Association, and the Portuguese Society of Temporomandibular Disorders, Orofacial Pain and Sleep.","authors":"Susana Sousa, Sílvia Correia, André Mariz de Almeida, Gabriela Videira, Ricardo Dias, Susana Falardo Ramos, Júlio Fonseca","doi":"10.1016/j.pulmoe.2024.05.006","DOIUrl":"10.1016/j.pulmoe.2024.05.006","url":null,"abstract":"<p><p>With the purpose of establishing a consensus around clinical orientations for professionals involved in managing patients with sleep breathing disorders (SBD), an interdisciplinary group of scientific societies involved in this field discussed and reviewed all the published international guidelines from the American Dental Association, American Academy of Sleep Medicine, American Academy of Dental Sleep Medicine and the European counterparts. Treatment of SBD is multidisciplinary and should be made in concert with the patient, the sleep physician, and the qualified dentist to solve the individual, social, and economic burden of the disease. This consensus document represents the current thinking of a team of Portuguese experts on managing patients with SBD based on the available evidence.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416848"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604502","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}
Pub Date : 2025-12-31Epub Date: 2024-10-24DOI: 10.1016/j.pulmoe.2023.05.001
P Jamshidi, B Danaei, M Arbabi, B Mohammadzadeh, F Khelghati, A Akbari Aghababa, A Nayebzade, A H Shahidi Bonjar, R Centis, G Sotgiu, M J Nasiri, G B Migliori
Introduction: Silicosis mostly happens in workers with high silica exposure and may accompany the development of various diseases like tuberculosis, cancer, or autoimmune diseases. The term silico-tuberculosis describes a condition in which an individual is affected by both silicosis and tuberculosis at the same time. This systematic review and meta-analysis study was conducted to evaluate the risk of tuberculosis in silicosis patients and individuals exposed to silica dust.
Methods: We performed a systematic search for relevant studies up to 6 September 2022 using PubMed/ Medline, and Embase with the following keywords in titles or abstracts: "silicosis" OR "silicoses" OR "pneumoconiosis" OR "pneumoconioses" AND "tuberculosis". Cohort and case-control studies containing relevant and original information about tuberculosis infection in silicosis patients were included for further analysis. Pooled estimates and 95% confidence intervals (CI) for the relative risk of tuberculosis in individuals with silicosis compared to those without; these were evaluated using the random effects model due to the estimated heterogeneity of the true effect sizes.
Results: Out of 5352 potentially relevant articles, 7 studies were eligible for systematic review, of which 4 cohort studies were included for meta-analysis. The total population of all studies was 5884, and 90.63% were male. The mean age of participants was 47.7 years. Our meta-analysis revealed a pooled risk ratio of 1.35 (95%CI 1.18-1.53, I 2: 94.30%) which means an increased risk of silicosis patients and silica-exposed individuals to tuberculosis infection.
Conclusion: Silicosis and silica dust exposure increase the risk of tuberculosis. Therefore, we suggest that individuals with long-time silica exposure, like mine workers, be routinely considered for both silicosis and tuberculosis screening programs.
{"title":"Silicosis and tuberculosis: A systematic review and meta-analysis.","authors":"P Jamshidi, B Danaei, M Arbabi, B Mohammadzadeh, F Khelghati, A Akbari Aghababa, A Nayebzade, A H Shahidi Bonjar, R Centis, G Sotgiu, M J Nasiri, G B Migliori","doi":"10.1016/j.pulmoe.2023.05.001","DOIUrl":"10.1016/j.pulmoe.2023.05.001","url":null,"abstract":"<p><strong>Introduction: </strong>Silicosis mostly happens in workers with high silica exposure and may accompany the development of various diseases like tuberculosis, cancer, or autoimmune diseases. The term silico-tuberculosis describes a condition in which an individual is affected by both silicosis and tuberculosis at the same time. This systematic review and meta-analysis study was conducted to evaluate the risk of tuberculosis in silicosis patients and individuals exposed to silica dust.</p><p><strong>Methods: </strong>We performed a systematic search for relevant studies up to 6 September 2022 using PubMed/ Medline, and Embase with the following keywords in titles or abstracts: \"silicosis\" OR \"silicoses\" OR \"pneumoconiosis\" OR \"pneumoconioses\" AND \"tuberculosis\". Cohort and case-control studies containing relevant and original information about tuberculosis infection in silicosis patients were included for further analysis. Pooled estimates and 95% confidence intervals (CI) for the relative risk of tuberculosis in individuals with silicosis compared to those without; these were evaluated using the random effects model due to the estimated heterogeneity of the true effect sizes.</p><p><strong>Results: </strong>Out of 5352 potentially relevant articles, 7 studies were eligible for systematic review, of which 4 cohort studies were included for meta-analysis. The total population of all studies was 5884, and 90.63% were male. The mean age of participants was 47.7 years. Our meta-analysis revealed a pooled risk ratio of 1.35 (95%CI 1.18-1.53, I <sup>2</sup>: 94.30%) which means an increased risk of silicosis patients and silica-exposed individuals to tuberculosis infection.</p><p><strong>Conclusion: </strong>Silicosis and silica dust exposure increase the risk of tuberculosis. Therefore, we suggest that individuals with long-time silica exposure, like mine workers, be routinely considered for both silicosis and tuberculosis screening programs.</p>","PeriodicalId":54237,"journal":{"name":"Pulmonology","volume":" ","pages":"2416791"},"PeriodicalIF":10.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9680387","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}
Pub Date : 2025-12-31Epub Date: 2024-12-03DOI: 10.1080/25310429.2024.2429911
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
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 SERPINA1 gene have been identified. We investigated the clinical presentation of subjects with severe AAT deficiency due to rare genotypes of the SERPINA1 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.
{"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}