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Diagnostics
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Respiratory Diseases: Diagnosis and Management
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Respiratory Diseases: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 8480

Special Issue Editors

Dr. Ori Wand

E-Mail Website
Guest Editor
Division of Pulmonary Medicine, Barzilai University Medical Center, Ashkelon, Israel
Interests: interstitial lung diseases; chronic obstructive pulmonary disease; asthma; COVID-19; lung cancer; interventional pulmonology
Dr. Shimon Izhakian

E-Mail Website
Guest Editor
Pulmonary Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva 4941492, Israel
Interests: respiratory infections; page therapy; lung transplantation; bronchiectasis; non-tuberculous mycobacteria

Special Issue Information

Dear Colleagues,

There has been tremendous progress in the management of respiratory diseases in recent years. Pulmonary and respiratory medicine is moving towards personalized medicine, which encompasses advances in diagnostic capabilities, improved phenotyping and endotyping of common illnesses, and the introduction of novel therapies.

Biological treatments have revolutionized the management of severe asthma. These medications are tailored for individuals with severe asthma according to widely available biomarkers, with the ambitious goal of inducing disease remission. A plethora of studies have led to an improved understanding of the pathophysiology of COPD, allowing us to contemplate how to promote its prevention and possibly change the disease course. Thoracic oncology is also a constantly evolving field. Current technologies allow for screening at-risk individuals to detect early-stage lung cancer. Molecular studies of neoplasms have led to targeted therapies, which can change the outlook of patients with advanced as well as local malignancy.

Those are just some examples of the possibilities currently available for physicians and patients in the ever-growing field of respiratory medicine. Additional significant advances have led to progress in the diagnosis and management of respiratory infections, interstitial lung diseases and pulmonary fibrosis, pulmonary hypertension, and hereditary diseases such as cystic fibrosis and primary ciliary dyskinesia, to name a few.

With this Special Issue, we aim to provide readers with an updated overview of exciting novelties in respiratory medicine and promote interest and discussion in this field.

Dr. Ori Wand
Dr. Shimon Izhakian
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • interstitial lung diseases
  • chronic obstructive pulmonary disease
  • asthma
  • COVID-19
  • lung cancer
  • interventional pulmonology

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Published Papers (6 papers)

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19 pages, 2031 KiB  
Article
Exploring the Interplay of Dataset Size and Imbalance on CNN Performance in Healthcare: Using X-rays to Identify COVID-19 Patients
by Moshe Davidian, Adi Lahav, Ben-Zion Joshua, Ori Wand, Yotam Lurie and Shlomo Mark
Diagnostics 2024, 14(16), 1727; https://doi.org/10.3390/diagnostics14161727 - 8 Aug 2024
Cited by 1 | Viewed by 1024
Abstract
Introduction: Convolutional Neural Network (CNN) systems in healthcare are influenced by unbalanced datasets and varying sizes. This article delves into the impact of dataset size, class imbalance, and their interplay on CNN systems, focusing on the size of the training set versus imbalance—a [...] Read more.
Introduction: Convolutional Neural Network (CNN) systems in healthcare are influenced by unbalanced datasets and varying sizes. This article delves into the impact of dataset size, class imbalance, and their interplay on CNN systems, focusing on the size of the training set versus imbalance—a unique perspective compared to the prevailing literature. Furthermore, it addresses scenarios with more than two classification groups, often overlooked but prevalent in practical settings. Methods: Initially, a CNN was developed to classify lung diseases using X-ray images, distinguishing between healthy individuals and COVID-19 patients. Later, the model was expanded to include pneumonia patients. To evaluate performance, numerous experiments were conducted with varied data sizes and imbalance ratios for both binary and ternary classifications, measuring various indices to validate the model’s efficacy. Results: The study revealed that increasing dataset size positively impacts CNN performance, but this improvement saturates beyond a certain size. A novel finding is that the data balance ratio influences performance more significantly than dataset size. The behavior of three-class classification mirrored that of binary classification, underscoring the importance of balanced datasets for accurate classification. Conclusions: This study emphasizes the fact that achieving balanced representation in datasets is crucial for optimal CNN performance in healthcare, challenging the conventional focus on dataset size. Balanced datasets improve classification accuracy, both in two-class and three-class scenarios, highlighting the need for data-balancing techniques to improve model reliability and effectiveness. Motivation: Our study is motivated by a scenario with 100 patient samples, offering two options: a balanced dataset with 200 samples and an unbalanced dataset with 500 samples (400 healthy individuals). We aim to provide insights into the optimal choice based on the interplay between dataset size and imbalance, enriching the discourse for stakeholders interested in achieving optimal model performance. Limitations: Recognizing a single model’s generalizability limitations, we assert that further studies on diverse datasets are needed. Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)
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12 pages, 607 KiB  
Article
Functional Improvement at One Year in Fibrotic Interstitial Lung Diseases—Prognostic Value of Baseline Biomarkers and Anti-Inflammatory Therapies
by Guangyu Shao, Paul Thöne, Bernhard Kaiser, Bernd Lamprecht and David Lang
Diagnostics 2024, 14(14), 1544; https://doi.org/10.3390/diagnostics14141544 - 17 Jul 2024
Cited by 1 | Viewed by 776
Abstract
Background: The clinical spectrum of fibrotic interstitial lung diseases (ILDs) is highly heterogeneous. We aimed to evaluate the prognostic value of widely available baseline biomarkers for the improvement of lung function in patients with fibrotic ILDs. Methods: This registry-based study included 142 patients [...] Read more.
Background: The clinical spectrum of fibrotic interstitial lung diseases (ILDs) is highly heterogeneous. We aimed to evaluate the prognostic value of widely available baseline biomarkers for the improvement of lung function in patients with fibrotic ILDs. Methods: This registry-based study included 142 patients with fibrotic ILDs as defined by the presence of reticulation, traction bronchiectasis or honeycombing on initial high-resolution computed tomography (HRCT). Functional improvement at 1 year was defined as a relative increase of 5% in forced vital capacity (FVC) or of 10% in diffusion capacity for carbon monoxide (DLCO). The prognostic value of baseline biomarkers was evaluated for all patients and the subgroup with anti-inflammatory treatment. Results: At one year, 44 patients showed improvement while 73 showed disease progression. Multivariate analyses found prognostic significance for age < 60 years (OR 5.4; 95%CI 1.9–15.4; p = 0.002), lactate dehydrogenase (LDH) >250 U/L (OR 2.5; 95%CI 1.1–5.8; p = 0.043) and blood monocyte count < 0.8 G/L (OR 3.5; 95%CI 1.1–11.3; p = 0.034). In 84 patients undergoing anti-inflammatory treatment, multivariate analysis revealed age < 60 years (OR 8.5 (95%CI 2.1–33.4; p = 0.002) as the only significant variable. Conclusion: Younger age, a higher LDH and lower blood monocyte count predicted functional improvement in fibrotic ILD patients, while in those treated with anti-inflammatory drugs, only age had significant implications. Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)
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13 pages, 895 KiB  
Article
Patient-Reported Outcome Measures in Patients with and without Non-Expandable Lung Secondary to Malignant Pleural Effusion—A Single-Centre Observational Study
by Jesper Koefod Petersen, Katrine Fjaellegaard, Daniel Bech Rasmussen, Gitte Alstrup, Asbjørn Høegholm, Jatinder Sing Sidhu, Rahul Bhatnagar, Paul Frost Clementsen, Christian B. Laursen and Uffe Bodtger
Diagnostics 2024, 14(11), 1176; https://doi.org/10.3390/diagnostics14111176 - 3 Jun 2024
Viewed by 841
Abstract
Background: Malignant pleural effusion (MPE) affects up to 15% of patients with malignancy, and the prevalence is increasing. Non-expandable lung (NEL) complicates MPE in up to 30% of cases. However, it is not known if patients with malignant pleural effusion and NEL are [...] Read more.
Background: Malignant pleural effusion (MPE) affects up to 15% of patients with malignancy, and the prevalence is increasing. Non-expandable lung (NEL) complicates MPE in up to 30% of cases. However, it is not known if patients with malignant pleural effusion and NEL are more symptomatic in activities of daily living compared to patients with MPE with expandable lung. Methods: This was an observational study on consecutively recruited patients with MPE from our pleural clinic. Before thoracentesis, patients completed patient-reported outcomes on cancer symptoms (ESAS), health-related quality of life (5Q-5D-5L), and dyspnoea scores. Following thoracentesis, patients scored dyspnoea relief and symptoms during thoracentesis. Data on focused lung ultrasound and pleural effusion biochemistry were collected. The non-expandable lung diagnosis was made by pleural experts based on radiological and clinical information. Results: We recruited 43 patients, including 12 with NEL (28%). The NEL cohort resembled those from previous studies concerning ultrasonography, pleural fluid biochemistry, and fewer cases with high volume thoracentesis. Patients with and without NEL were comparable concerning baseline demography. The 5Q-5D-5L utility scores were 0.836 (0.691–0.906) and 0.806 (0.409–0.866), respectively, for patients with and without NEL. We observed no between-group differences in symptom burden or health-related quality of life. Conclusion: While the presence of NEL affects the clinical management of recurrent MPE, the presence of NEL seems not to affect patients’ overall symptom burden in patients with MPE. Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)
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11 pages, 207 KiB  
Article
NSCLC Digital PCR Panel Returns Low-Input Sample Results Where Sequencing Fails
by Leah Rowland Herdt, Paige Berroteran, Malini Rajagopalan, Bradley A. Brown and Jerrod J. Schwartz
Diagnostics 2024, 14(3), 243; https://doi.org/10.3390/diagnostics14030243 - 24 Jan 2024
Cited by 1 | Viewed by 2378
Abstract
Molecular diagnostics has drastically improved the survival rate of patients diagnosed with non-small cell lung cancer (NSCLC) over the last 10 years. Despite advancements in molecular testing, targeted therapies, and national guideline recommendations, more than half of NSCLC patients in the United States [...] Read more.
Molecular diagnostics has drastically improved the survival rate of patients diagnosed with non-small cell lung cancer (NSCLC) over the last 10 years. Despite advancements in molecular testing, targeted therapies, and national guideline recommendations, more than half of NSCLC patients in the United States either never receive testing or patient care is not informed via molecular testing. Here, we sought to explore the relationship between DNA/RNA input, the molecular testing method, and test success rates. On a shared set of low-input reference test materials (n = 3), we ran both a hybrid capture-based, next-generation sequencing (NGS) assay and a multiplexed digital PCR (dPCR) panel. The dPCR panel was highly sensitive and specific for low-input samples in dilution studies ranging from 40 to 1 ng DNA and from 20 to 2.5 ng RNA, while NGS had up to an 86% loss in sensitivity as contrived sample inputs were serially diluted. The dPCR panel also demonstrated a high PPA (>95%) at diluted inputs as low as 15/7.5 ng DNA/RNA on 23 banked clinical samples with the same NGS hybrid capture assay at a high input. These data suggest that digital PCR is an accurate and effective way of identifying clinically relevant NSCLC mutations at low nucleotide input and quality. Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)

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4 pages, 431 KiB  
Comment
Myositis “Diaphragm Cramp” as a Potential Cause of Respiratory Arrests in Infants. Comment on Salfi, N.C.M. et al. Fatal Deterioration of a Respiratory Syncytial Virus Infection in an Infant with Abnormal Muscularization of Intra-Acinar Pulmonary Arteries: Autopsy and Histological Findings. Diagnostics 2024, 14, 601
by Dov Jordan Gebien
Diagnostics 2024, 14(10), 1061; https://doi.org/10.3390/diagnostics14101061 - 20 May 2024
Cited by 1 | Viewed by 1467
Abstract
This Letter to the Editor provides additional information regarding the tragic case of a 6-month-old in Italy with respiratory syncytial virus who deteriorated and died unexpectedly from rapid respiratory insufficiency [...] Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)
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10 pages, 9060 KiB  
Case Report
Fatal Deterioration of a Respiratory Syncytial Virus Infection in an Infant with Abnormal Muscularization of Intra-Acinar Pulmonary Arteries: Autopsy and Histological Findings
by Nunzio Cosimo Mario Salfi, Gianluca Vergine, Maurizio Poloni, Sara Metalli, Barbara Bigucci, Francesca Facondini, Gianmatteo Pedrazzi, Francesca Masciopinto, Laura Bernabè, Vittorio Sambri and Maria Paola Bonasoni
Diagnostics 2024, 14(6), 601; https://doi.org/10.3390/diagnostics14060601 - 12 Mar 2024
Cited by 1 | Viewed by 1408
Abstract
Respiratory syncytial virus (RSV) infection represents a global and noteworthy cause of hospitalization and death in infants of less than 1 year of age. The typical clinical manifestation is bronchiolitis, an inflammatory process of the small airways. The symptoms are usually a brief [...] Read more.
Respiratory syncytial virus (RSV) infection represents a global and noteworthy cause of hospitalization and death in infants of less than 1 year of age. The typical clinical manifestation is bronchiolitis, an inflammatory process of the small airways. The symptoms are usually a brief period of low-grade fever, cough, coryza, breathing difficulties, and reduced feeding. The progression of the disease is difficult to predict, even in previous healthy subjects. Symptoms may also be subtle and underestimated, thus leading to sudden unexpected infant death (SUID). In these cases, RSV infection is discovered at autopsy, either histologically or through real-time reverse transcription polymerase chain reaction (RT-PCR) performed on nasopharyngeal swabs. Herein, we describe a case of RSV infection in a 6-month-old infant with no risk factors, who rapidly deteriorated and unexpectedly died of respiratory insufficiency in a hospital setting. RT-PCR on nasopharyngeal swabs revealed RSV. The autopsy showed diffuse lymphogranulocytic bronchitis and bronchiolitis, and multiple foci of acute pneumonia. Abnormal muscularization of the intra-acinar pulmonary arteries was also observed, which likely contributed to worsening the lung impairment. Full article
(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)
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