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Diagnostics
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Diagnosis, Classification, and Monitoring of Pulmonary Diseases
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Diagnosis, Classification, and Monitoring of Pulmonary Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 July 2025 | Viewed by 9897

Special Issue Editors

Prof. Dr. Barbara Ruaro

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Guest Editor
Pulmonology Unit, Department of Medical Surgical and Health Sciences, Hospital of Cattinara, University of Trieste, 34149 Trieste, Italy
Interests: autoimmune disorders; interstitial lung disease; nailfold capillaroscopy; sarcoidosis
Special Issues, Collections and Topics in MDPI journals
Dr. Paola Confalonieri

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Guest Editor
SC Pneumologia, ASUGI, Trieste, Italy
Interests: pulmonary medicine; connective tissue diseases; rheumatic diseases; interstitial lung disease; nonspecific interstitial pneumonia; cell culture
Special Issues, Collections and Topics in MDPI journals
Dr. Francesco Salton

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Guest Editor
Department of Pulmonology, University Hospital of Cattinara, Trieste, Italy
Interests: non-invasive ventilation (NIV); COVID-19 disease; lung cancer; acute respiratory distress syndrome (ARDS); idiopathic pulmonary fibrosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In this Special Issue (SI), we seek contributions exploring the changing context and the rising new perspectives within lung diseases. The emphasis of this SI is on the dynamics of change and evolution of the latest progresses made, as well as on the evolving methods and responses in research across the field of lung diseases. This SI aims to inform, inspire, and provide direction and guidance to researchers in the field.

The topic welcomes manuscripts covering, but not limited, to the following themes:

  • Novel imaging techniques to facilitate accurate diagnosis and treatment approaches;
  • Recent methods to identify causal biological pathways and clinically relevant biomarkers of respiratory diseases.

The recent advancements and developments reached in the field of lung diseases, especially over the past year, have been exceptional and are the result of the great achievements made by researchers and scientists thus far. The growing interest surrounding the lungs and their diseases, with a real explosion in the last year and a half caused by the appearance and spread of COVID-19, is motivated by our poor understanding of the triggering events and natural history of different lung diseases.

In order to explore this fast-growing field, this journal is launching this new Special Issue on the evolution of methods, processes, techniques, and ways of thinking related to lung diseases that have led to new discoveries and research approaches.

Dr. Barbara Ruaro
Dr. Paola Confalonieri
Dr. Francesco Salton
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • lung diseases
  • pulmonary diseases
  • imaging techniques
  • causal biological pathways
  • clinical biomarkers

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Published Papers (7 papers)

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17 pages, 1114 KiB  
Article
Transthoracic Lung Ultrasound in Systemic Sclerosis-Associated Interstitial Lung Disease: Capacity to Differentiate Chest Computed-Tomographic Characteristic Patterns
by Cinzia Rotondo, Giuseppe Busto, Valeria Rella, Raffaele Barile, Fabio Cacciapaglia, Marco Fornaro, Florenzo Iannone, Donato Lacedonia, Carla Maria Irene Quarato, Antonello Trotta, Francesco Paolo Cantatore and Addolorata Corrado
Diagnostics 2025, 15(4), 488; https://doi.org/10.3390/diagnostics15040488 - 17 Feb 2025
Viewed by 637
Abstract
Background/Objectives: Even today, interstitial lung disease (ILD) is diagnosed by chest high-resolution computed tomography (lung HR-CT). Large amounts of data are available about the usefulness of transthoracic lung ultrasound (LUS) in ILD. This study aimed to evaluate the transthoracic LUS capacity to [...] Read more.
Background/Objectives: Even today, interstitial lung disease (ILD) is diagnosed by chest high-resolution computed tomography (lung HR-CT). Large amounts of data are available about the usefulness of transthoracic lung ultrasound (LUS) in ILD. This study aimed to evaluate the transthoracic LUS capacity to discriminate different ILD patterns in systemic sclerosis (SSc) patients, such as usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP) with ground glass opacification/opacity (GGO), and NSIP with GGO and reticulations, as well as the possibility of identifying progressive fibrosing ILD. Methods: We enrolled SSc-patients attending the outpatient Clinic of the Rheumatology Unit of Policlinico of Foggia and the Rheumatology Unit of Policlinico of Bari who satisfied these inclusion criteria: age older than 18 years; the satisfaction of ACR/EULAR 2013 classification criteria for SSc; chest HR-CT scan within three months before or three months after transthoracic LUS evaluation; and availability of recent and complete pulmonary function test. The exclusion criteria were as follows: history or recent reactivation of chronic obstructive pulmonary disease, lung cancer, lung infection, heart failure, pulmonary oedema, pulmonary arterial hypertension, acute respiratory distress syndrome and diffuse alveolar haemorrhage and thoracic surgery. All enrolled SSc-patients underwent transthoracic LUS, performed by an experienced sonographer. The ILD diagnosis and the respective patterns were assessed by chest HR-CT, which still represents the best diagnostic tool. Results: ILD was observed in 99 (63.5%) patients. Of these, 25% had the UIP pattern and 75% the NSIP pattern (46 with GGO, 28 with GGO and reticulations). By receiver operating characteristic (ROC) curve analysis, higher values of accuracy, sensitivity, specificity, and negative clinical utility index (CUI) were found for pleural line irregularity (0.84 (95% CI: 0.75–0.91), 96%, and 73.6%, p = 0.0001; 0.72), and pleural line thickness (0.84 (95% CI: 0.74–0.91), 72%, and 96.4%, p = 0.0001; 0.85) for detecting the UIP pattern. The best performance among transthoracic LUS signs for NSIP with the GGO pattern was observed for B-lines (accuracy: 0.88 (95% CI: 0.80–0.93), sensitivity: 93.4% and specificity: 82.4, p = 0.0001; CUI+: 0.75, CUI−: 0.77). LUS signs with higher accuracy, sensitivity, and specificity for NSIP with GGO and reticulations were pleural line irregularity (0.89 (95% CI: 0.80–0.95), 96.4%, and 82.4%, p = 0.0001) with CUI−: 0.72, and B-lines (0.89 (95% CI: 0.80–0.95), 96.4%, 82.4%, p = 0.0001), with CUI+: 0.80 and CUI−: 0.70. Furthermore, a total number of B-lines > 10 maximises LUS performance with 92.3% sensitivity, and an accuracy of 0.83 (p = 0.0001) for detecting the NSIP pattern, particularly GGO. A sample-restricted analysis (66 SSc patients) evidenced the presence of progressive fibrosing ILD in 77% of these patients. By binary regression analysis, the unique LUS sign associated with progressive fibrosing ILD was the presence of pleural line irregularity (OR: 3.6; 95% CI 1.08–11.9; p = 0.036). Conclusions: Our study demonstrated that transthoracic LUS presented a high capacity to discriminate the different patterns of SSc-ILD. Therefore, the hypothesis that transthoracic LUS is an effective screening method for the evaluation of the presence of SSc-ILD and establishing the correct timing of chest HR-CT, in order to avoid patients receiving excessive exposure to ionising radiation, is supported. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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21 pages, 16757 KiB  
Article
Flow-Field Inference for Turbulent Exhale Flow Measurement
by Shane Transue, Do-kyeong Lee, Jae-Sung Choi, Seongjun Choi, Min Hong and Min-Hyung Choi
Diagnostics 2024, 14(15), 1596; https://doi.org/10.3390/diagnostics14151596 - 24 Jul 2024
Cited by 1 | Viewed by 939
Abstract
Background: Vision-based pulmonary diagnostics present a unique approach for tracking and measuring natural breathing behaviors through remote imaging. While many existing methods correlate chest and diaphragm movements to respiratory behavior, we look at how the direct visualization of thermal CO2 exhale flow [...] Read more.
Background: Vision-based pulmonary diagnostics present a unique approach for tracking and measuring natural breathing behaviors through remote imaging. While many existing methods correlate chest and diaphragm movements to respiratory behavior, we look at how the direct visualization of thermal CO2 exhale flow patterns can be tracked to directly measure expiratory flow. Methods: In this work, we present a novel method for isolating and extracting turbulent exhale flow signals from thermal image sequences through flow-field prediction and optical flow measurement. The objective of this work is to introduce a respiratory diagnostic tool that can be used to capture and quantify natural breathing, to identify and measure respiratory metrics such as breathing rate, flow, and volume. One of the primary contributions of this work is a method for capturing and measuring natural exhale behaviors that describe individualized pulmonary traits. By monitoring subtle individualized respiratory traits, we can perform secondary analysis to identify unique personalized signatures and abnormalities to gain insight into pulmonary function. In our study, we perform data acquisition within a clinical setting to train an inference model (FieldNet) that predicts flow-fields to quantify observed exhale behaviors over time. Results: Expiratory flow measurements capturing individualized flow signatures from our initial cohort demonstrate how the proposed flow field model can be used to isolate and analyze turbulent exhale behaviors and measure anomalous behavior. Conclusions: Our results illustrate that detailed spatial flow analysis can contribute to unique signatures for identifying patient specific natural breathing behaviors and abnormality detection. This provides the first-step towards a non-contact respiratory technology that directly captures effort-independent behaviors based on the direct measurement of imaged CO2 exhaled airflow patterns. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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11 pages, 1544 KiB  
Article
Topotecan in a Real-World Small-Cell Lung Cancer Cohort: Prognostic Biomarkers Improve Selection of Patients for Second-Line Treatment
by Laura Lambrecht, Paola Arnold, Jürgen Behr, Pontus Mertsch, Amanda Tufman and Diego Kauffmann-Guerrero
Diagnostics 2024, 14(14), 1572; https://doi.org/10.3390/diagnostics14141572 - 19 Jul 2024
Cited by 1 | Viewed by 1982
Abstract
Background: Small-cell lung cancer (SCLC) is a highly aggressive tumor, and overall survival (OS) remains poor despite intensive efforts to develop new treatment strategies. In second line, topotecan is the only approved drug, with a median OS of 5.9 months. However, real-world SCLC [...] Read more.
Background: Small-cell lung cancer (SCLC) is a highly aggressive tumor, and overall survival (OS) remains poor despite intensive efforts to develop new treatment strategies. In second line, topotecan is the only approved drug, with a median OS of 5.9 months. However, real-world SCLC patients are often in worse condition and harbor more comorbidities than study populations. Therefore, the real-world performance of topotecan may differ from that seen in studies. Here, we analyzed outcomes of SCLC patients receiving topotecan and identified predictive and prognostic markers. Patients and Methods: We retrospectively analyzed 44 consecutive SCLC patients receiving topotecan between 2015 and 2022. We analyzed baseline characteristics (age, ECOG-PS, topotecan cycles, and dosage) and pre-treatment blood values (LDH, CRP, sodium) as well as prognostic scores (neutrophil/lymphocyte ratio (NLR), thrombocyte/lymphocyte ratio (TLR), Glasgow Prognostic Score, prognostic nutritional score, systemic inflammation index (SII), and the prognostic index) extracted from electronic patients’ charts to identify predictive and prognostic markers. Results: In our cohort, mPFS and mOS were only 1.9 and 5.6 months, respectively. Gender, ECOG-PS, active brain metastases, NLR, GPS, PNI, and SII significantly influenced PFS and OS in univariate analysis. ECOG-PS (p > 0.001), active brain metastases (p = 0.001), and SII (p = 0.008) were significant independent prognostic variables in a multivariate COX regression model. Selecting patients by these three markers achieved an mPFS of 5.7 months and thus increased the mPFS three-fold. Patients not meeting all criteria had an mPFS of 1.8 months (p = 0.006). Patients identified by prognostic markers had an mOS of 9.1 months (p = 0.002). Conclusions: The efficacy of topotecan in SCLC real-world patients is poor, indicating that many patients were treated without any benefit. Easy-to-obtain markers can predict response and treatment efficacy and should therefore be validated in larger cohorts to identify patients who are more likely to benefit from topotecan. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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14 pages, 2332 KiB  
Article
Safety and Diagnostic Yield of Medical Pleuroscopy (MP) Performed under Balanced Analgosedation by a Pneumological Team Compared to Video-Assisted Thoracic Surgery (VATS): A Retrospective Controlled Real-Life Study (TORAPO)
by Valentino Allocca, Luca Guidelli, Angela Galgano, Lucia Benedetti, Roberto Fabbroni, Andrea Bianco, Piero Paladini and Raffaele Scala
Diagnostics 2024, 14(6), 569; https://doi.org/10.3390/diagnostics14060569 - 7 Mar 2024
Cited by 2 | Viewed by 1359
Abstract
Introduction: Medical pleuroscopy (MP) is an invasive technique that provides access to the pleural space with a rigid or semi-rigid work instrument, allowing for visualization and the obtaining of bioptic pleural samples. Using pulmonologist-based analgosedation to perform pleuroscopy is still debated for safety [...] Read more.
Introduction: Medical pleuroscopy (MP) is an invasive technique that provides access to the pleural space with a rigid or semi-rigid work instrument, allowing for visualization and the obtaining of bioptic pleural samples. Using pulmonologist-based analgosedation to perform pleuroscopy is still debated for safety reasons. The aim of this real-life study is to demonstrate the safety and diagnostic yield of MP performed under balanced analgosedation by a pulmonologist team with expertise in the management of critically ill patients in the respiratory intensive care unit (RICU) and interventional pulmonology unit as compared to video-assisted thoracic surgery (VATS) performed by a thoracic surgeon team under anesthesiologist-based analgosedation. Methods: In this multicentric retrospective controlled study, the inclusion criteria were patients older than 18 years old with pleural effusion of unknown diagnosis consecutively admitted in the years 2017–2022 to the pulmonology unit and RICU of San Donato Hospital in Arezzo (Italy, Tuscany) and to the thoracic surgery unit of Santa Maria Le Scotte in Siena (Italy, Tuscany) to undergo, respectively, MP under balanced propofol-based analgosedation on spontaneous breathing with local anesthesia provided by a pulmonologist team (Group A), and VATS provided by a surgeon team under propofol-based analgosedation managed by an anesthesiologist using invasive mechanical ventilation (IMV) via endotracheal intubation (ETI) (Group B). The primary endpoints were (1) a comparison between the two groups in terms of the diagnostic yield of pleural effusion, and (2) major and minor complications of pleuroscopic procedures. The secondary endpoints were (1) the length of the pleuroscopic procedure; (2) the duration of hospitalization; (3) propofol doses; and (4) the patient’s comfort after the procedure assessed using the Visual Analogue Scale (VAS). Results: We enrolled 91 patients in Group A and 116 patients in Group B. A conclusive diagnosis was obtained in 97.8% of Group A vs. 100% of Group B (p = 0.374). Malignant effusion was diagnosed in 59.3% of Group A and in 55.1% of Group B; p = 0.547. No intraoperative or postoperative mortality events or major complications were observed in Group A. The major complications observed in Group B were three major bleeding events (p = 0.079) and one exitus (p = 0.315) not related to the interventional procedure. No significant difference emerged between the two groups in terms of minor complications. The duration of the intervention was significantly lower in Group A (40.0 min ± 12.6 versus 51.5 ± 31.0; p = 0.001). Pain control and, therefore, patient comfort were better in Group A, with an average VAS of 0.34 ± 0.65 versus 2.58 ± 1.26, p < 0.001. The duration of hospitalization was lower in Group B (5.1 ± 2.6 vs. 15.5 ± 8.0, p < 0.001). The average overall dose of propofol administered was significantly lower in Group A (65.6 ± 35.8 mg versus 280 ± 20.0 mg; p < 0.001). Conclusions: This real-life study shows that the MP performed under propofol-based analgosedation by an independent pneumologist team is a safe and well-tolerated procedure with a diagnostic yield and complication rates similar to those obtained with VATS. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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Review

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16 pages, 4032 KiB  
Review
Recognition of Idiopathic Inflammatory Myopathies Underlying Interstitial Lung Diseases
by Giulia Morina, Domenico Sambataro, Alessandro Libra, Stefano Palmucci, Michele Colaci, Gaetano La Rocca, Francesco Ferro, Linda Carli, Chiara Baldini, Santa Valentina Liuzzo, Carlo Vancheri and Gianluca Sambataro
Diagnostics 2025, 15(3), 275; https://doi.org/10.3390/diagnostics15030275 - 24 Jan 2025
Cited by 1 | Viewed by 1068
Abstract
Interstitial Lung Disease (ILD) is one of the most common causes of mortality in idiopathic Inflammatory Myopathies (IIM). Despite these conditions being commonly associated with proximal weakness, skin rashes and arthritis, ILD can be the first or the sole clinical feature in up [...] Read more.
Interstitial Lung Disease (ILD) is one of the most common causes of mortality in idiopathic Inflammatory Myopathies (IIM). Despite these conditions being commonly associated with proximal weakness, skin rashes and arthritis, ILD can be the first or the sole clinical feature in up to 60% of patients, potentially leading to incorrect diagnosis. The early recognition of an underlying IIM in ILD patients can allow for prompt treatment, which could potentially stabilize or even improve the lung disease, also avoiding the development of other clinical features associated with the condition. The objective of this review is to describe the clinical, serological and radiological features associated with IIM-ILD, mainly focusing on dermatomyositis and antisynthetase syndrome. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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13 pages, 820 KiB  
Review
Vascular Endothelial Damage in COPD: Where Are We Now, Where Will We Go?
by Gianluca Screm, Lucrezia Mondini, Francesco Salton, Paola Confalonieri, Liliana Trotta, Mariangela Barbieri, Antonio Romallo, Alessandra Galantino, Michael Hughes, Selene Lerda, Marco Confalonieri and Barbara Ruaro
Diagnostics 2024, 14(9), 950; https://doi.org/10.3390/diagnostics14090950 - 30 Apr 2024
Cited by 2 | Viewed by 1848
Abstract
Background: Chronic obstructive pulmonary disease (COPD) has higher rates among the general population, so early identification and prevention is the goal. The mechanisms of COPD development have not been completely established, although it has been demonstrated that endothelial dysfunction plays an important role. [...] Read more.
Background: Chronic obstructive pulmonary disease (COPD) has higher rates among the general population, so early identification and prevention is the goal. The mechanisms of COPD development have not been completely established, although it has been demonstrated that endothelial dysfunction plays an important role. However, to date, the measurement of endothelial dysfunction is still invasive or not fully established. Nailfold video capillaroscopy (NVC) is a safe, non-invasive diagnostic tool that can be used to easily evaluate the microcirculation and can show any possible endothelial dysfunctions early on. The aim of this review is to evaluate if nailfold microcirculation abnormalities can reflect altered pulmonary vasculature and can predict the risk of cardiovascular comorbidities in COPD patients. Methods: A systematic literature search concerning COPD was performed in electronic databases (PUBMED, UpToDate, Google Scholar, ResearchGate), supplemented with manual research. We searched in these databases for articles published until March 2024. The following search words were searched in the databases in all possible combinations: chronic obstructive pulmonary disease (COPD), endothelial damage, vascular impairment, functional evaluation, capillaroscopy, video capillaroscopy, nailfold video capillaroscopy. Only manuscripts written in English were considered for this review. Papers were included only if they were able to define a relationship between COPD and endothelium dysfunction. Results: The search selected 10 articles, and among these, only three previous reviews were available. Retinal vessel imaging, flow-mediated dilation (FMD), and skin autofluorescence (AF) are reported as the most valuable methods for assessing endothelial dysfunction in COPD patients. Conclusions: It has been assumed that decreased nitric oxide (NO) levels leads to microvascular damage in COPD patients. This finding allows us to assume NVC’s potential effectiveness in COPD patients. However, this potential link is based on assumption; further investigations are needed to confirm this hypothesis. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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8 pages, 807 KiB  
Brief Report
Oscillometry Assesses Small Airway Disease and Reveals Peripheral Lung Pathology in Early Pulmonary Fibrosis: A Cross-Sectional Study
by Athena Gogali, Georgia Gkrepi, Christos Kyriakopoulos, Konstantinos Tatsis, Konstantinos Katsoulis, Chara Tselepi and Konstantinos Kostikas
Diagnostics 2024, 14(24), 2873; https://doi.org/10.3390/diagnostics14242873 - 20 Dec 2024
Viewed by 1292
Abstract
Background/Objectives: Small airway disease/dysfunction (SAD) is crucial in obstructive airway diseases but is less investigated in interstitial lung disease (ILD). There are only a few physiological studies investigating SAD in the context of pulmonary fibrosis. Oscillometry is a simple technique that assesses SAD [...] Read more.
Background/Objectives: Small airway disease/dysfunction (SAD) is crucial in obstructive airway diseases but is less investigated in interstitial lung disease (ILD). There are only a few physiological studies investigating SAD in the context of pulmonary fibrosis. Oscillometry is a simple technique that assesses SAD with minimal patient effort. In this study, we investigated the role of oscillometry in patients with mild pulmonary fibrosis without evident obstructive disorder, focusing on small airways. Methods: Oscillometry and pulmonary function test (PFT) data of consecutive patients newly diagnosed with pulmonary fibrosis of unknown etiology in a university hospital ILD clinic were collected and analyzed. Results: Data from 34 patients with mild pulmonary fibrosis were collected in 6 months. Disease severity, as evaluated by FVC, presented strong correlations with the oscillometry parameters: resistance (R5: r = −0.588, p < 0.001), reactance (X5: r = 0.671, p < 0.001), resonant frequency (Fres: r = −0.562, p = 0.001), and the area of reactance (AX: r = −0.515, p = 0.002). The oscillometry parameter R5-19-expressing was abnormal in 27% of patients, correlated with FEF25-75% (r = −0.370, p = 0.021) and was a predictor of a FEF25-75% < 60% pred. with AUC 0.738 (95%Cl 0.519–0.956). R5-19 correlated with FVC (r = −0.481, p = 0.004) and was the only SAD parameter that correlated with the composite physiologic index (CPI, r = 0.338, p = 0.04), while FEF 25-75% and RV/TLC% did not. Conclusions: Oscillometry is an easy to perform technique that may reveal early mechanical alterations caused by pulmonary fibrosis. Peripheral resistance, as expressed by R5-19, which identifies small airway dysfunction as a marker of peripheral lung pathology, may be complementary to pulmonary function testing and may also have prognostic implications for ILD patients. Full article
(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)
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