LungPub Date : 2024-04-18DOI: 10.1007/s00408-024-00692-4
Lara M. Khoury, Kristin N. Sheehan, William I. Mariencheck, Katherine A. Gershner, Matthew Maslonka, Angela G. Niehaus, Scott Isom, Christina R. Bellinger
{"title":"Endobronchial Ultrasound Guided Transbronchial Needle Aspiration and PD-L1 Yields","authors":"Lara M. Khoury, Kristin N. Sheehan, William I. Mariencheck, Katherine A. Gershner, Matthew Maslonka, Angela G. Niehaus, Scott Isom, Christina R. Bellinger","doi":"10.1007/s00408-024-00692-4","DOIUrl":"https://doi.org/10.1007/s00408-024-00692-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Immunotherapy is a leading approach for treating advanced non-small cell lung cancer (NSCLC) by targeting the PD-1/PD-L1 checkpoint signaling pathway, particularly in tumors expressing high levels of PD-L1 (Jug et al. in J Am Soc Cytopathol 9:485–493, 2020; Perrotta et al. in Chest 158: 1230–1239, 2020). Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive method to obtain tissue for molecular studies, including PD-L1 analysis, in unresectable tumors (Genova et al. in Front Immunol 12: 799455, 2021; Wang et al. in Ann Oncol 29: 1417–1422, 2018). This study aimed to assess the adequacy of PD-L1 assessment in EBUS-TBNA cytology specimens.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Data was collected retrospectively from patients who underwent EBUS-TBNA between 2017 and 2021 for suspected lung cancer biopsy. Samples positive for NSCLC were examined for PD-L1 expression. EBUS was performed by experienced practitioners, following institutional guidelines of a minimum of five aspirations from positively identified lesions. Sample adequacy for molecular testing was determined by the pathology department.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The analysis involved 387 NSCLC cases (149 squamous cell, 191 adenocarcinoma, 47 unspecified). Of the 263 EBUS-TBNA specimens tested for PD-L1, 237 (90.1%) were deemed adequate. While 84% adhered to the protocol, adherence did not yield better results. Significantly higher PD-L1 adequacy was observed in squamous cell carcinomas (93.2%) compared to adenocarcinoma (87.6%). The number of aspirations and sedation type did not correlate with PD-L1 adequacy in either cancer type, but lesion size and location had a significant impact in adenocarcinomas. Adenocarcinoma exhibited higher PD-L1 expression (68%) compared to squamous cell carcinoma (48%).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>EBUS-TBNA offers high yields for assessing immunotherapy markers like PD-L1, with satisfactory adequacy regardless of NSCLC subtype, lesion size, or location.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":"17 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140627944","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}
LungPub Date : 2024-04-16DOI: 10.1007/s00408-024-00687-1
Youqian Zhang, Qiong Wen, Li Li
{"title":"Commentary: Genetic Association of Circulating Adipokines with Risk of Idiopathic Pulmonary Fibrosis: A Two‑Sample Mendelian Randomization Study","authors":"Youqian Zhang, Qiong Wen, Li Li","doi":"10.1007/s00408-024-00687-1","DOIUrl":"https://doi.org/10.1007/s00408-024-00687-1","url":null,"abstract":"","PeriodicalId":18163,"journal":{"name":"Lung","volume":"885 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140588389","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}
LungPub Date : 2024-04-11DOI: 10.1007/s00408-024-00696-0
Noelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, Mark Jorissen, Natalie Lorent, Marijke Proesmans, François Vermeulen, Jeroen Breckpot, Mieke Boon
{"title":"Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study","authors":"Noelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, Mark Jorissen, Natalie Lorent, Marijke Proesmans, François Vermeulen, Jeroen Breckpot, Mieke Boon","doi":"10.1007/s00408-024-00696-0","DOIUrl":"https://doi.org/10.1007/s00408-024-00696-0","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>We aimed to examine the correlation between clinical characteristics and the pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>We conducted a retrospective single-center study in patients with PCD followed at the University Hospitals Leuven. We included patients with genetically confirmed PCD and described their genotype, data from ultrastructural ciliary evaluation and clinical characteristics. Genotype/phenotype correlations were studied in patients with the most frequently involved genes.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>We enrolled 74 patients with a median age of 25.58 years. The most frequently involved genes were <i>DNAH11</i> (n = 23) and <i>DNAH5</i> (n = 19). The most frequent types of pathogenic variants were missense (n = 42) and frameshift variants (n = 36) and most patients had compound heterozygous variants (n = 44). Ciliary ultrastructure (p < 0.001), situs (p = 0.015) and age at diagnosis (median 9.50 vs 4.71 years, p = 0.037) differed between <i>DNAH11</i> and <i>DNAH5</i>. When correcting for situs this difference in age at diagnosis was no longer significant (p = 0.973). Patients with situs inversus were diagnosed earlier (p = 0.031). Respiratory tract microbiology (p = 0.161), lung function (cross-sectional, p = 0.829 and longitudinal, p = 0.329) and chest CT abnormalities (p = 0.202) were not significantly different between <i>DNAH11</i> and <i>DNAH5</i> variants.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This study suggests a genotype–phenotype correlation for some of the evaluated clinical characteristics of the two most frequently involved genes in this study, namely <i>DNAH11</i> and <i>DNAH5</i>.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":"212 1","pages":""},"PeriodicalIF":5.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140588409","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}
LungPub Date : 2024-04-01Epub Date: 2024-03-12DOI: 10.1007/s00408-024-00678-2
Luiza Mendes Fonseca, Pedro Matos da Câmara, Iane Miguel Pereira Lettieri, Caroline Serafim Dagostin, Arthur Oswaldo de Abreu Vianna
{"title":"Pressure Support Ventilation Versus T-piece as Spontaneous Breathing Trials for Extubation of Patients with Chronic Obstructive Pulmonary Disease: A Systematic Review and Meta-analysis of Randomized Controlled Trials.","authors":"Luiza Mendes Fonseca, Pedro Matos da Câmara, Iane Miguel Pereira Lettieri, Caroline Serafim Dagostin, Arthur Oswaldo de Abreu Vianna","doi":"10.1007/s00408-024-00678-2","DOIUrl":"10.1007/s00408-024-00678-2","url":null,"abstract":"<p><strong>Background: </strong>Weaning patients with COPD from mechanical ventilation (MV) presents a challenge, as literature on this topic is limited. This study compares PSV and T-piece during spontaneous breathing trials (SBT) in this specific population.</p><p><strong>Methods: </strong>A search of PubMed, EMBASE, and Cochrane in September 2023 yielded four randomized controlled trials (RCTs) encompassing 560 patients. Among these, 287 (51%) used T-piece during SBTs.</p><p><strong>Results: </strong>The PSV group demonstrated a significant improvement in the successful extubation rate compared to the T-piece (risk ratio [RR] 1.14; 95% confidence interval [CI] 1.03-1.26; p = 0.02). Otherwise, there was no statistically significant difference in the reintubation (RR 1.07; 95% CI 0.79-1.45; p = 0.67) or the ICU mortality rates (RR 0.99; 95% CI 0.63-1.55; p = 0.95).</p><p><strong>Conclusion: </strong>Although PSV in SBTs exhibits superior extubation success, consistent weaning protocols warrant further exploration through additional studies.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"211-216"},"PeriodicalIF":4.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140110565","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}
LungPub Date : 2024-04-01Epub Date: 2024-02-27DOI: 10.1007/s00408-024-00674-6
Ji-Yoon Oh, Sung-Yoon Kang, Noeul Kang, Ha-Kyeong Won, Eun-Jung Jo, Seung-Eun Lee, Ji-Hyang Lee, Ji-Su Shim, Young-Chan Kim, Youngsang Yoo, Jin An, Hwa Young Lee, So-Young Park, Mi-Yeong Kim, Ji-Ho Lee, Byung-Keun Kim, Han-Ki Park, Min-Hye Kim, Sae-Hoon Kim, Sang-Heon Kim, Yoon-Seok Chang, Sang-Hoon Kim, Byung-Jae Lee, Kian Fan Chung, Sang-Heon Cho, Woo-Jung Song
{"title":"Characterization of Codeine Treatment Responders Among Patients with Refractory or Unexplained Chronic Cough: A Prospective Real-World Cohort Study.","authors":"Ji-Yoon Oh, Sung-Yoon Kang, Noeul Kang, Ha-Kyeong Won, Eun-Jung Jo, Seung-Eun Lee, Ji-Hyang Lee, Ji-Su Shim, Young-Chan Kim, Youngsang Yoo, Jin An, Hwa Young Lee, So-Young Park, Mi-Yeong Kim, Ji-Ho Lee, Byung-Keun Kim, Han-Ki Park, Min-Hye Kim, Sae-Hoon Kim, Sang-Heon Kim, Yoon-Seok Chang, Sang-Hoon Kim, Byung-Jae Lee, Kian Fan Chung, Sang-Heon Cho, Woo-Jung Song","doi":"10.1007/s00408-024-00674-6","DOIUrl":"10.1007/s00408-024-00674-6","url":null,"abstract":"<p><strong>Purpose: </strong>Codeine is a narcotic antitussive often considered for managing patients with refractory or unexplained chronic cough. This study aimed to evaluate the proportion and characteristics of patients who responded to codeine treatment in real-world practice.</p><p><strong>Methods: </strong>Data from the Korean Chronic Cough Registry, a multicenter prospective cohort study, were analyzed. Physicians assessed the response to codeine based on the timing and degree of improvement after treatment initiation. Follow-up assessments included the Leicester Cough Questionnaire and cough severity visual analog scale at six months. In a subset of subjects, objective cough frequency was evaluated following the initiation of codeine treatment.</p><p><strong>Results: </strong>Of 305 patients, 124 (40.7%) responded to treatments based on anatomic diagnostic protocols, while 181 (59.3%) remained unexplained or refractory to etiological treatments. Fifty-one subjects (16.7%) were classified as codeine treatment responders (those showing a rapid and clear response), 57 (18.7%) as partial responders, and 62 (20.3%) as non-responders. Codeine responders showed rapid improvement in objective cough frequency and severity scores within a week of the treatment. At 6 months, responders showed significantly improved scores in cough scores, compared to non-responders. Several baseline parameters were associated with a more favorable treatment response, including older age, non-productive cough, and the absence of heartburn.</p><p><strong>Conclusions: </strong>Approximately 60% of chronic cough patients in specialist clinics may require antitussive drugs. While codeine benefits some, only a limited proportion (about 20%) of patients may experience rapid and significant improvement. This underscores the urgent need for new antitussive drugs to address these unmet clinical needs.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"97-106"},"PeriodicalIF":5.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139972528","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":"Relationship Between Diaphragm Thickness, Thickening Fraction, Dome Excursion, and Respiratory Pressures in Healthy Subjects: An Ultrasound Study.","authors":"Toru Yamada, Taro Minami, Shumpei Yoshino, Ken Emoto, Suguru Mabuchi, Ryoichi Hanazawa, Akihiro Hirakawa, Masayoshi Hashimoto","doi":"10.1007/s00408-024-00686-2","DOIUrl":"10.1007/s00408-024-00686-2","url":null,"abstract":"<p><strong>Purpose: </strong>Diaphragm ultrasonography is used to identify causes of diaphragm dysfunction. However, its correlation with pulmonary function tests, including maximal inspiratory (MIP) and expiratory pressures (MEP), remains unclear. This study investigated this relationship by measuring diaphragm thickness, thickening fraction (TF), and excursion (DE) using ultrasonography, and their relationship to MIP and MEP. It also examined the influence of age, sex, height, and BMI on these measures.</p><p><strong>Methods: </strong>We recruited healthy Japanese volunteers and conducted pulmonary function tests and diaphragm ultrasonography in a seated position. Diaphragm ultrasonography was performed during quiet breathing (QB) and deep breathing (DB) to measure the diaphragm thickness, TF, and DE. A multivariate analysis was conducted, adjusting for age, sex, height, and BMI.</p><p><strong>Results: </strong>Between March 2022 and January 2023, 109 individuals (56 males) were included from three facilities. The mean (standard deviation) MIP and MEP [cmH2O] were 72.2 (24.6) and 96.9 (35.8), respectively. Thickness [mm] at the end of expiration was 1.7 (0.4), TF [%] was 50.0 (25.9) during QB and 110.7 (44.3) during DB, and DE [cm] was 1.7 (0.6) during QB and 4.4 (1.4) during DB. Multivariate analysis revealed that only DE (DB) had a statistically significant relationship with MIP and MEP (p = 0.021, p = 0.008). Sex, age, and BMI had a statistically significant influence on relationships between DE (DB) and MIP (p = 0.008, 0.048, and < 0.001, respectively).</p><p><strong>Conclusion: </strong>In healthy adults, DE (DB) has a relationship with MIP and MEP. Sex, age, and BMI, but not height, are influencing factors on this relationship.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"171-178"},"PeriodicalIF":5.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140194103","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}
LungPub Date : 2024-04-01Epub Date: 2024-03-13DOI: 10.1007/s00408-024-00675-5
Davide Ramoni, Simona Coco, Giovanni Rossi, Chiara Dellepiane, Elisa Bennicelli, Sara Santamaria, Linda Zinoli, Alberto Stefano Tagliafico, Marco Tagliamento, Giulia Barletta, Luca Liberale, Amedeo Tirandi, Silvia Minetti, Maria Bertolotto, Fabrizio Montecucco, Carlo Genova, Federico Carbone
{"title":"Circulating Osteopontin Predicts Clinical and Radiological Response in First-Line Treatment of Advanced Non-Small Cell Lung Cancer.","authors":"Davide Ramoni, Simona Coco, Giovanni Rossi, Chiara Dellepiane, Elisa Bennicelli, Sara Santamaria, Linda Zinoli, Alberto Stefano Tagliafico, Marco Tagliamento, Giulia Barletta, Luca Liberale, Amedeo Tirandi, Silvia Minetti, Maria Bertolotto, Fabrizio Montecucco, Carlo Genova, Federico Carbone","doi":"10.1007/s00408-024-00675-5","DOIUrl":"10.1007/s00408-024-00675-5","url":null,"abstract":"<p><strong>Purpose: </strong>Pembrolizumab-based regimens are conditioned by the expression of PD-L1, but durable response rate is limited by innate and acquired resistance mechanisms. Here, we focus on osteopontin (OPN), an upfront biomarker of senescence, which closely associated with natural history of non-small cell lung cancer (NSCLC).</p><p><strong>Methods: </strong>Seventy-nine patients eligible to pembrolizumab regimens-alone or in combination with chemotherapy-as first-line treatment of advanced NSCLC were enrolled. Predictive value of OPN toward iRECIST progression disease (PD) was set as first outcome. Secondary ones included performance status (ECOG) at baseline, early (first and best) responses, and overall survival (OS).</p><p><strong>Results: </strong>High Serum OPN characterized patients with worse ECOG-PS (p = 0.015) at baseline and subjects experienced PD/death at first (OR 1.17 [1.02 to 1.35]; p = 0.030) and best responses (0.04 [0.00 to 0.81]; p = 0.035). OPN was associated with time-to-progression (B -2.74 [-4.46 to -1.01]) and time-to death (-0.13 [-0.20 to -0.05]). Cox regression models unveil a predictive value for iRECIST-PD (HR 1.01 [1.00 to 1.02]; p = -0.005), RECIST-PD (HR 1.01 [1.00 to 1.02]; p = 0.017), and OS (HR 1.02 [1.01 to 1.03]; p = 0.001). These models were internally validated through bootstrap resampling and characterized by relevant discrimination ability at ROC curve analyses.</p><p><strong>Conclusion: </strong>Baseline levels of serum OPN is closely associated with performance status and short/long term outcomes in patients with advanced NSCLC, which are candidate to pembrolizumab-based regimens. As upfront biomarker of senescence, OPN may pave the way for future studies focusing on senescence patterns in NSCLC.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"197-210"},"PeriodicalIF":5.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119939","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}
LungPub Date : 2024-04-01Epub Date: 2024-02-06DOI: 10.1007/s00408-024-00677-3
Maria Gabriella Matera, Luigino Calzetta, Paola Rogliani, Nicola Hanania, Mario Cazzola
{"title":"Cardiovascular Events with the Use of Long-Acting Muscarinic Receptor Antagonists: An Analysis of the FAERS Database 2020-2023.","authors":"Maria Gabriella Matera, Luigino Calzetta, Paola Rogliani, Nicola Hanania, Mario Cazzola","doi":"10.1007/s00408-024-00677-3","DOIUrl":"10.1007/s00408-024-00677-3","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to examine reports of cardiovascular adverse events (CV AEs) observed in the real-world during treatment with aclidinium, tiotropium, glycopyrronium, and umeclidinium alone or in combination with a LABA and, in the context of triple therapy, with the addition of an ICS, and submitted to the food and drug administration adverse event reporting system (FAERS).</p><p><strong>Methods: </strong>A retrospective disproportionality analysis was conducted utilizing CV AE reports submitted to the FAERS from January 2020 to 30 September 2023. Disproportionality was measured by calculating the reporting odds ratio.</p><p><strong>Results: </strong>Compared with ipratropium, tiotropium was associated with fewer reports of CV AEs. Compared with tiotropium, other LAMAs were more likely to be associated with reports of CV AEs. Combinations of glycopyrronium with indacaterol or formoterol and umeclidinium with vilanterol significantly reduced reports of CV AEs compared with the respective LAMA. The addition of an ICS to these combinations further reduced the risk of CV AE reports.</p><p><strong>Conclusion: </strong>Our study suggests that inhaled LAMAs are not free from cardiac AE risks. This risk may be more evident when the newer LAMAs are used, but it is generally significantly reduced when COPD patients are treated with dual bronchodilators or triple therapy. However, these results do not prove that LAMAs cause CV AEs, as FAERS data alone are not indicative of a drug's safety profile. Given the frequency with which COPD and cardiovascular disease co-exist, a large study in the general population could shed light on this very important issue.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"119-125"},"PeriodicalIF":5.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139697784","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}
LungPub Date : 2024-04-01Epub Date: 2024-03-10DOI: 10.1007/s00408-024-00685-3
Ghadah Alrehaili, Jennifer Kemppainen, Sanjay Kalra, Filippo Pinto E Vairo, Teng Moua, Eunhee S Yi, Alejandro Ferrer, Mrinal M Patnaik, Eva M Carmona
{"title":"Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.","authors":"Ghadah Alrehaili, Jennifer Kemppainen, Sanjay Kalra, Filippo Pinto E Vairo, Teng Moua, Eunhee S Yi, Alejandro Ferrer, Mrinal M Patnaik, Eva M Carmona","doi":"10.1007/s00408-024-00685-3","DOIUrl":"10.1007/s00408-024-00685-3","url":null,"abstract":"<p><strong>Background: </strong>Lung biopsy remains the gold standard in the diagnosis of fibrotic interstitial lung disease (F-ILD), but there is a growing appreciation of the role of pathogenic gene variants in telomere and surfactant protein genes, especially in familial pulmonary fibrosis (FPF). Pleuroparenchymal fibroelastosis (PPFE) is a rare disease that can coexist with different patterns of F-ILD, including FPF. It can be progressive and often leads to respiratory failure and death. This study tested the hypothesis that genetic testing goes beyond radiological and histological findings in PPFE and other F-ILD further informing clinical decision-making for patients and affected family members by identifying pathological gene variants in telomere and surfactant protein genes.</p><p><strong>Methods: </strong>This is a retrospective review of 70 patients with F-ILD in the setting of FPF or premature lung fibrosis. Six out of 70 patients were diagnosed with PPFE based on radiological or histological characteristics. All patients underwent telomere length evaluation in peripheral blood by Flow-FISH or genetic testing using a customized exome-based panel that included telomere and surfactant protein genes associated with lung fibrosis.</p><p><strong>Results: </strong>Herein, we identified six individuals where radiographic or histopathological analyses of PPFE were linked with telomere biology disorders (TBD) or variants in surfactant protein genes. Each case involved individuals with either personal early-onset lung fibrosis or a family history of the disease. Assessments of telomere length and genetic testing offered insights beyond traditional radiological and histopathological evaluations.</p><p><strong>Conclusion: </strong>Detecting anomalies in TBD-related or surfactant protein genes can significantly refine the diagnosis and treatment strategies for individuals with PPFE and other F-ILD.</p>","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"151-156"},"PeriodicalIF":5.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11009725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094361","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}
LungPub Date : 2024-04-01Epub Date: 2024-02-07DOI: 10.1007/s00408-024-00676-4
Isaac Kirubakaran Sundar, Scott M Matson
{"title":"Missing Nuts and Bolts: Translating Pulmonary Fibrosis from Preclinical Murine Models to Human Clinical Trials.","authors":"Isaac Kirubakaran Sundar, Scott M Matson","doi":"10.1007/s00408-024-00676-4","DOIUrl":"10.1007/s00408-024-00676-4","url":null,"abstract":"","PeriodicalId":18163,"journal":{"name":"Lung","volume":" ","pages":"221-222"},"PeriodicalIF":4.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139702815","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}