CHEST pulmonary最新文献

{"title":"A Breath of Fresh Air","authors":"Berty Baskaran MD, Ryan Butzko DO","doi":"10.1016/j.chpulm.2025.100150","DOIUrl":"10.1016/j.chpulm.2025.100150","url":null,"abstract":"","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 2","pages":"Article 100150"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Receipt of Weight Management Services Among Patients With OSA and Obesity","authors":"Aristotle G. Leonhard MD ,&nbsp;Jennifer McDowell MS ,&nbsp;Katherine D. Hoerster PhD, MPH ,&nbsp;Sophia Hayes MD, MS ,&nbsp;Fernando Picazo MD, MS ,&nbsp;Jason M. Castaneda MD ,&nbsp;Kevin Josey PhD ,&nbsp;Matthew Griffith MD ,&nbsp;Jun Ma MD, PhD ,&nbsp;Kevin I. Duan MD, MS ,&nbsp;Laura C. Feemster MD, MS ,&nbsp;David H. Au MD, MS ,&nbsp;Lucas M. Donovan MD, MS","doi":"10.1016/j.chpulm.2025.100156","DOIUrl":"10.1016/j.chpulm.2025.100156","url":null,"abstract":"<div><h3>Background</h3><div>Obesity is the single greatest driver of OSA severity, and clinical practice guidelines recommend weight management services for all patients with OSA and obesity.</div></div><div><h3>Research Question</h3><div>How often do patients with obesity and newly diagnosed OSA receive weight management services as part of the initial management strategy for OSA? What are the patient- and site-level predictors of receipt of these services?</div></div><div><h3>Study Design and Methods</h3><div>National electronic health record data from the Veterans Health Administration were used to identify patients with a BMI ≥ 30 kg/m² and a new sleep study diagnostic of OSA. Patients with prior sleep studies, positive airway pressure therapy, or weight management services prior to OSA diagnosis were excluded. The primary study outcome was the receipt of new weight management services in the first 3 to 12 months following diagnosis of OSA. A mixed-effects logistic regression analysis was performed evaluating for patient- and site-level predictors of the receipt of weight management care.</div></div><div><h3>Results</h3><div>Among 152,976 patients included in our analysis, 15,304 (10.0%) received a weight management service following OSA diagnosis. Of these, 14,146 (9.2%) received a lifestyle-based weight management intervention, 1,790 (1.2%) received a weight management medication, and 29 (0.2%) underwent bariatric surgery. Female sex, Black race, higher BMI, comorbidity burden, and nonrural location were associated with greater receipt of weight management services. The odds of receiving weight management services were also greater among patients cared for at sites that reported greater proportions of patients receiving weight management care in the prior year.</div></div><div><h3>Interpretation</h3><div>A new OSA diagnosis is an opportunity to consider new treatments. Despite existing guidelines and the availability of services, our results show that patients with OSA and obesity rarely receive weight management care following diagnosis. New strategies are needed to overcome existing barriers to effective weight management care in patients newly diagnosed with OSA.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 2","pages":"Article 100156"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144253852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multistate Modeling for Determining Transition Probabilities in Sleep Apnea Severity Across Multiple Nights of Recording","authors":"Jean-Benoit Martinot MD ,&nbsp;Nhat-Nam Le-Dong MD, PhD ,&nbsp;Bastien Lechat PhD ,&nbsp;Sébastien Bailly PharmD, PhD ,&nbsp;Jean-Louis Pépin MD, PhD","doi":"10.1016/j.chpulm.2025.100170","DOIUrl":"10.1016/j.chpulm.2025.100170","url":null,"abstract":"","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 2","pages":"Article 100170"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144261654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Communication With Smoking Attitudes and Behaviors Among Patients Undergoing Lung Cancer Screening","authors":"Christopher G. Slatore MD ,&nbsp;Anne C. Melzer MD ,&nbsp;Ian Ilea MSW ,&nbsp;Liana Schweiger MD, MCR ,&nbsp;Janel DeSalvo MD ,&nbsp;Donald R. Sullivan MD, MCR ,&nbsp;Sean P.M. Rice PhD ,&nbsp;Renda S. Wiener MD, MPH ,&nbsp;Santanu Datta PhD ,&nbsp;James M. Davis MD ,&nbsp;Christopher H. Chang MD ,&nbsp;Kimberly A. Curlin MN, FNP-BC ,&nbsp;Sara E. Golden PhD","doi":"10.1016/j.chpulm.2025.100154","DOIUrl":"10.1016/j.chpulm.2025.100154","url":null,"abstract":"<div><h3>Background</h3><div>Many patients who undergo lung cancer screening (LCS) actively use cigarettes.</div></div><div><h3>Research Question</h3><div>What are the longitudinal, patient-reported smoking attitudes and behaviors across the LCS process in routine care settings, and are these smoking attitudes and behaviors associated with patient-centered communication?</div></div><div><h3>Study Design and Methods</h3><div>This prospective, longitudinal, repeated measures cohort study was conducted among patients undergoing LCS in 3 health care systems. Participants were surveyed by using validated measures of smoking attitudes and behaviors and patient-centered communication domains up to 1 year following low-dose CT (LDCT) imaging for LCS. For longitudinal analyses, a series of generalized estimating equations were applied to measure the adjusted associations of overall communication quality, LCS knowledge, and decision role concordance with smoking attitudes and behaviors.</div></div><div><h3>Results</h3><div>A total of 253 participants who currently used cigarettes or who had recently stopped were enrolled. Of these, 83 participants (36.7% of patients with nonmissing information) had moderate or high levels of nicotine dependence. Of 133 participants who were using cigarettes at baseline who contributed data, 24 (18%) were abstinent 12 months after baseline. During the screening period, no more than 33% of participants reported receiving cessation resources from their clinician at any given point. Almost 70% of participants reported high-quality communication at baseline, which was associated with a positive stage of cigarette use behavior change (adjusted OR, 2.27; 95% CI, 1.21-4.26). Longitudinal high-quality communication was associated with cigarette abstinence (adjusted OR, 3.63; 95% CI, 1.58-8.34). LCS knowledge and decision role concordance were not associated with smoking attitudes or behaviors.</div></div><div><h3>Interpretation</h3><div>Our results indicate that it may be challenging to substantially improve smoking behaviors through communication strategies. Additional interventions to increase smoking cessation are required.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 2","pages":"Article 100154"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144261663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pragmatic Comparative Effectiveness Trials in Rheumatoid Arthritis-Associated Interstitial Lung Disease","authors":"Angela Kaczorowski-Worthley BSN ,&nbsp;Dinesh Pal Mudaranthakam PhD, MBA, MS ,&nbsp;Janell Reichuber APRN ,&nbsp;Chris Streiler MD ,&nbsp;Sahil Pandya MD ,&nbsp;Ryan Boente MD ,&nbsp;Susan K. Mathai MD ,&nbsp;Ayodeji Adegunsoye MD ,&nbsp;Jeff Swigris DO, MS ,&nbsp;Elizabeth R. Volkmann MD, MS ,&nbsp;Joshua J. Solomon MD ,&nbsp;Bryant R. England MD, PhD ,&nbsp;Scott M. Matson MD","doi":"10.1016/j.chpulm.2025.100159","DOIUrl":"10.1016/j.chpulm.2025.100159","url":null,"abstract":"<div><h3>Background</h3><div>Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) portends a devastating prognosis for patients, with survival typically being &lt; 5 to 8 years after diagnosis. Limited clinical trial data exist to guide treatment strategies, and the efficacy of current strategies—immunomodulation and antifibrotics—remains uncertain. Large randomized controlled trials are costly, but pragmatic trial designs could reduce expenses. Establishing equipoise and assessing feasibility from both patient and expert perspectives are essential for developing these trials.</div></div><div><h3>Research Question</h3><div>What are the perceptions of RA-ILD experts and patients with interstitial lung disease surrounding equipoise, feasibility, and trial design?</div></div><div><h3>Study Design and Methods</h3><div>A qualitative study involving a panel of 10 RA-ILD experts and 3 patient panels was conducted. Experts were recruited via snowball sampling, and patient panels included 29 individuals with interstitial lung disease or their caregivers. Discussions were transcribed and analyzed using inductive coding, creating a thematic network based on the Attride-Stirling guidelines.</div></div><div><h3>Results</h3><div>Expert themes included variability in treatment strategies, prioritizing patient-reported outcomes and balancing pragmatism with data collection in trial design. Patient themes highlighted outcomes of importance, participation barriers, and the need for patient-centered research.</div></div><div><h3>Interpretation</h3><div>Both expert and patient panels endorsed using real-world clinical outcomes and patient-reported outcomes as primary trial end points. Pragmatic trials could reduce costs and expand inclusion criteria, highlighting the potential of patient-centered approaches in RA-ILD research.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 2","pages":"Article 100159"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144243104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Racialized Economic Segregation and Disparities in Non-Small Cell Lung Cancer Care and Outcomes","authors":"Pratibha Shrestha MPH, PhD ,&nbsp;Min Lian MD, PhD ,&nbsp;James Struthers BA ,&nbsp;Oumarou Nabi PhD ,&nbsp;Bayu B. Bekele MPH, PhD ,&nbsp;Benjamin Kozower MD ,&nbsp;Maria Baggstrom MD ,&nbsp;Ying Liu MD, PhD","doi":"10.1016/j.chpulm.2024.100101","DOIUrl":"10.1016/j.chpulm.2024.100101","url":null,"abstract":"<div><h3>Background</h3><div>Little is known about the impact of residential segregation on early detection, treatment, and prognosis of non-small cell lung cancer (NSCLC), a predominant type of lung cancers.</div></div><div><h3>Research Question</h3><div>Does racialized economic segregation play a role in NSCLC treatment and outcomes and contribute to racial disparities?</div></div><div><h3>Study Design and Methods</h3><div>This study included non-Hispanic White (NHW) and non-Hispanic Black (NHB) patients with NSCLC diagnosed between 2007 and 2015 and identified from the Surveillance, Epidemiology, and End Results data set. County-level racialized economic segregation was estimated by using the Index of Concentration at the Extremes (ICE). Multilevel logistic regression and multilevel Cox regression accounting for county-level clustering were used to estimate ORs for late-stage diagnosis and treatment underutilization, and hazard ratios (HRs) were used for mortality.</div></div><div><h3>Results</h3><div>Of 203,441 patients, 85.8% were NHW, and 14.2% were NHB. Compared with patients living in the counties with the highest concentration of high-income NHW households (lowest ICE quintile), patients living in the counties with the highest concentration of low-income NHB households (highest ICE quintile) had higher risks of late-stage diagnosis (OR, 1.09; 95% CI, 1.02-1.16; <em>P</em>_trend &lt; .001), underutilization of guideline-recommended treatment (OR, 1.28; 95% CI, 1.16-1.41; <em>P</em>_trend &lt; .0001), lung cancer-specific mortality (HR, 1.10; 95% CI, 1.07-1.14; <em>P</em>_trend &lt; .0001), and overall mortality (HR, 1.12; 95% CI, 1.09-1.16; <em>P</em>_trend &lt; .0001). The association between segregation and treatment underutilization was stronger in NHW patients than in NHB patients (<em>P</em>_interaction = .02). There was no significant difference in the segregation-related risk of late-stage diagnosis, lung cancer-specific mortality, or overall mortality between NHW and NHB patients.</div></div><div><h3>Interpretation</h3><div>Living in segregated, low-income counties with predominately NHB residents has adverse impacts on early detection, treatment, and outcomes of NSCLC. However, residential segregation did not explain the excess risks of NSCLC care underutilization and mortality in NHB patients compared with NHW patients.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 1","pages":"Article 100101"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143578830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prospective REALITI-A Study","authors":"Cristiano Caruso MD, PhD ,&nbsp;G. Walter Canonica MD ,&nbsp;Manish Patel MBChB, PhD ,&nbsp;Andrew Smith MBChB, PhD ,&nbsp;Mark C. Liu MD ,&nbsp;Rafael Alfonso-Cristancho MD, PhD ,&nbsp;Robert G. Price MSc ,&nbsp;Rupert W. Jakes PhD ,&nbsp;Lydia Demetriou MSc ,&nbsp;Antonio Valero MD ,&nbsp;Thomas C. Köhler MD ,&nbsp;Charles Pilette MD, PhD ,&nbsp;Geoffrey Chupp MD ,&nbsp;Guy Brusselle MD ,&nbsp;Peter Howarth DM","doi":"10.1016/j.chpulm.2024.100107","DOIUrl":"10.1016/j.chpulm.2024.100107","url":null,"abstract":"<div><h3>Background</h3><div>Mepolizumab, a monoclonal antibody targeting IL-5, is of proven clinical benefit in severe asthma; however, prospective, long-term, real-world data in severe asthma are required.</div></div><div><h3>Research Question</h3><div>What is the real-world benefit of 2 years of mepolizumab treatment in severe asthma?</div></div><div><h3>Study Design and Methods</h3><div>REALITI-A was a 2-year, international, prospective study enrolling adults with asthma on newly initiated mepolizumab 100 mg subcutaneously (physician decision). Outcomes in the 1-year premepolizumab vs 2-year follow-up periods included rates of clinically significant asthma exacerbations (CSEs) (deterioration requiring systemic corticosteroids and/or emergency department [ED] visit/hospitalization), exacerbations requiring ED visit/hospitalization, exacerbations requiring hospitalization, proportion of patients with no exacerbations, median daily maintenance oral corticosteroids (mOCSs) dose, proportion of patients discontinuing mOCSs completely, Asthma Control Questionnaire-5 score, FEV₁, and adverse events (AEs).</div></div><div><h3>Results</h3><div>After 2 years’ follow-up, 73% of patients (599 of 822) had no record of mepolizumab discontinuation. During the 2-year follow-up vs premepolizumab period (N = 822), rates of CSEs, exacerbations requiring ED visit/hospitalization, or hospitalization only were reduced by 74%, 79%, and 73%, respectively (odds ratio for no CSEs, 10.0; 95% CI, 7.55- 13.25). Median daily mOCS dose decreased from 10.0 (quartile 1, 5.0; quartile 3, 14.7) mg at week 0 (n = 297) to 0.0 (quartile 1, 0.0; quartile 3, 5.0) mg at weeks 101 to 104 (n = 168), and the proportion of patients discontinuing mOCSs increased progressively to 43% at 1 year and 57% at 2 years. There was a 1.53-point reduction in Asthma Control Questionnaire-5 scores from baseline at 2 years. At months 21 to 24, least square mean FEV₁ improved by 142 mL from baseline. Ninety (11%) and 7 (&lt; 1%) patients experienced mepolizumab-related AEs and serious AEs during the follow-up period, respectively.</div></div><div><h3>Interpretation</h3><div>In patients with severe asthma, real-world mepolizumab treatment for 2 years was well tolerated and was associated with sustained reductions in exacerbations and progressive reductions in mOCS use.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 1","pages":"Article 100107"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143579515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome","authors":"Uddalak Majumdar MD ,&nbsp;Theresa M. Kline MLIS, AHIP ,&nbsp;James K. Stoller MD","doi":"10.1016/j.chpulm.2024.100063","DOIUrl":"10.1016/j.chpulm.2024.100063","url":null,"abstract":"<div><h3>Background</h3><div>Williams-Beuren syndrome (WBS) is a multisystem genetic condition characterized by a submicroscopic deletion on the seventh chromosome (7q11.23), which usually includes the elastin gene.</div></div><div><h3>Research Question</h3><div>Although the elastin deficiency in WBS can predispose individuals to emphysema, the prevalence of emphysema in WBS is unknown. This narrative review aims to address this gap by estimating the frequency of emphysema (or suggestive features thereof) in patients with WBS, with a special focus on concomitant alpha-1 antitrypsin deficiency.</div></div><div><h3>Study Design and Methods</h3><div>Literature was reviewed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.</div></div><div><h3>Results</h3><div>Of 419 studies identified by the search strategy, 19 eligible studies reported 393 adult patients with WBS. The criteria by which emphysema was assessed varied greatly among the relatively few reports addressing this issue. Chest CT evidence of emphysema was reported in three of 26 patients (11.5%). Physiologic evidence of airflow obstruction, although not definitive for emphysema (ie, with asthma not excluded), was present in as many as 38.6% of patients. Considering studies that reported multiorgan clinical manifestations of WBS, irrespective of whether chest CT imaging and/or pulmonary function testing was reported, the frequency of spirometric and imaging signs suggestive of emphysema was 4.3%. Emphysema was not reported in any of the 11 patients with concomitant PI∗MZ heterozygous alpha-1 antitrypsin deficiency.</div></div><div><h3>Interpretation</h3><div>In the context that only few adults with WBS have been fully characterized regarding the occurrence of emphysema, confidently estimating the prevalence of emphysema is difficult. This review shows that the frequency of imaging and pulmonary function test abnormalities suggestive of emphysema seems relatively low in the context that the elastin deficiency of WBS clearly can predispose to emphysema, and that other manifestations of elastin deficiency are present early in life. Acknowledging the challenges of studying uncommon diseases or syndromes, further systematic study of adults with WBS is needed.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 1","pages":"Article 100063"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141139258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accurate Indentification of Pathogenic Mutations Conferring α1-Antitrypsin Deficiency by a Novel Multiplexed Molecular Assay","authors":"Emily K. DeCurtis BSc ,&nbsp;Sharon K. Kuss-Duerkop PhD ,&nbsp;Iara M.P. Machado PhD ,&nbsp;Zoe P. Stewart BSc ,&nbsp;Matt Jackson MS ,&nbsp;Ellie Hasenohr BSc ,&nbsp;Jessica L. Crumby BSc ,&nbsp;Steve D. Groshong MD, PhD ,&nbsp;Claire M. Coeshott PhD ,&nbsp;Ronald J. Harbeck PhD ,&nbsp;James P. Woodrow MD ,&nbsp;Robert A. Sandhaus MD, PhD ,&nbsp;Yongbao Wang PhD","doi":"10.1016/j.chpulm.2024.100076","DOIUrl":"10.1016/j.chpulm.2024.100076","url":null,"abstract":"<div><h3>Background</h3><div>α₁-Antitrypsin deficiency (AATD) is a common, underdiagnosed disease caused by mutations in the polymorphic <em>SERPINA1</em> gene. AATD often causes COPD, other respiratory ailments, and severe liver disease. AATD underdiagnosis is associated with the lack of a quick, high-precision test for <em>SERPINA1</em> variants.</div></div><div><h3>Research Question</h3><div>Can a rapid and more accurate molecular diagnostic assay be developed that identifies AATD-associated mutations and outperforms current limited methodology?</div></div><div><h3>Study Design and Methods</h3><div>We developed a multiplexed polymerase chain reaction (PCR) assay that that uses mass spectrometry to detect 20 pathogenic <em>SERPINA1</em> mutations, two normal M allele variants, and an additional variant of unknown significance as an accessible frontline genetic test for AATD. Blood or buffy coat samples from 177 patients with AATD indication, 176 blood samples from people with presumed normal genotypes in addition to 10 buccal swabs and 10 blood spots (total of 373) were tested to validate the assay. Additionally, 760 whole blood samples from patients with AATD indications were evaluated to identify AATD-associated mutations.</div></div><div><h3>Results</h3><div>The novel genotyping assay described here accurately detected 23 <em>SERPINA1</em> single nucleotide polymorphisms (23-SNP AAT assay). Of 177 AATD samples, 96% showed abnormal single nucleotide polymorphisms (SNPs), whereas 9.1% of the 176 presumed normal samples showed abnormal SNPs. The 23-SNP AAT genotypes correlated well with known serum α₁-antitrypsin levels. This genotyping assay was more accurate and streamlined than a phenotyping isoelectric focusing assay used to identify AATD variants. For clinical testing, serum α₁-antitrypsin protein level determination and the 23-SNP AAT genotyping assay were performed. The 23-SNP AAT assay was successfully implemented using AATD indication patient samples to evaluate the most common <em>SERPINA1</em> mutations indicative of AATD. The 23-SNP AAT assay has allowed for quick and accurate α₁-antitrypsin genotyping of patients.</div></div><div><h3>Interpretation</h3><div>These findings indicate that we developed a novel, multiplexed genotyping assay that rapidly and accurately identified multiple AATD-associated <em>SERPINA1</em> SNPs. This assay may be useful to diagnose AATD quickly in patients with pulmonary or hepatic diseases or both of unknown origin.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 1","pages":"Article 100076"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141694823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Giant Bullous Disease","authors":"Kenji Yoshino MD ,&nbsp;Jonathan Ioanitescu MD ,&nbsp;Haiying Zhang MD ,&nbsp;Tiana Endicott-Yazdani MD, PhD ,&nbsp;Susan K. Mathai MD","doi":"10.1016/j.chpulm.2024.100121","DOIUrl":"10.1016/j.chpulm.2024.100121","url":null,"abstract":"<div><h3>Case Presentation</h3><div>A 50-year-old African American woman presented to the lung transplant clinic for evaluation after experiencing gradually worsening dyspnea over the preceding 5 years. She had been diagnosed with COPD by another pulmonologist. Since her diagnosis 10 years before presentation, the patient had been on continuous supplemental oxygen therapy at 2 L/min. Her treatment regimen included a once daily combination inhaler (a corticosteroid and an ultra-long-acting ß-adrenoceptor agonist) along with an albuterol inhaler used as needed. The patient’s dyspnea limited her ability to walk half a block, and she often required a few minutes to recover after these efforts. Her symptoms were partially alleviated by use of her albuterol inhaler. In addition to dyspnea, the patient reported a nonproductive cough that was exacerbated by activity and relieved by rest. The patient’s medical history included OSA requiring positive airway pressure therapy and a hospitalization for respiratory distress due to a COVID-19 infection 12 months before presentation. She had a &lt; 10-pack-year smoking history and childhood exposure to secondhand smoke. She had no known exposure to organic dusts or asbestos.</div></div>","PeriodicalId":94286,"journal":{"name":"CHEST pulmonary","volume":"3 1","pages":"Article 100121"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}