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Diagnostics
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Molecular Diagnosis of Interstitial Lung Disease
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Molecular Diagnosis of Interstitial Lung Disease

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

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 17400

Special Issue Editor

Dr. Ilaria Campo

E-Mail Website
Guest Editor
UOC Pneumologia, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
Interests: interstitial lung disease; pulmonary alveolar proteinosis; gm-csf; surfactant; lung fibrosis; genetics; molecular biology

Special Issue Information

Dear Colleagues,

We are pleased to invite you to submit a paper to this Special Issue of Diagnostics entitled Molecular Diagnosis of Interstitial Lung Disease.

Interstitial lung disease (ILD) includes a group of diffuse parenchymal lung diseases that often share overlapping features. The diagnosis of ILD requires a combination of clinical data, radiological imaging, and histological findings. However, diagnoses are often delayed or misrecognized. Precise diagnosis is essential for prognostication and successful management, as therapeutic strategies differ between ILD subtypes and inter-individual differences in efficacy to the standard treatments exist.

A number of genetic and environmental factors can contribute to the development of ILD; nevertheless, non-invasive biomarkers implemented in clinical practice still represent an unmet clinical need. A surgical lung biopsy on its own is no longer considered a diagnostic ‘gold standard’ and may not be feasible in elderly patients with co-morbidities.

The implementation of an ‘omic’ approach (combining genomic, proteomic, epigenomic, and imaging data) could drive the optimization of clinical trial design and management of ILD and will be the basis of a personalized medicine.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

-IPF;

-Sarcoidosis;

-Pulmonary alveolar proteinosis and disorders of pulmonary surfactant homeostasis;

-Rare interstitial pneumonia;

-ILD development during the course of systemic sclerosis (SSc);

-Multidisciplinary approaches to ILD;

-Potential role of artificial intelligence (AI) in ILD diagnosis;

-Diagnosis of post-COVID-19 ILD manifestations;

-Circulating biomarkers;

-Genetic markers for susceptibility and prognosis.


I look forward to receiving your contributions.

Dr. Ilaria Campo
Guest Editor

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 Disease
  • ILD
  • Biomarkers
  • Lung fibrosis
  • Surfactant

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Published Papers (6 papers)

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Research

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20 pages, 540 KiB  
Article
Interstitial Lung Disease in Immunocompromised Children
by Xianfei Gao, Katarzyna Michel and Matthias Griese
Diagnostics 2023, 13(1), 64; https://doi.org/10.3390/diagnostics13010064 - 26 Dec 2022
Cited by 4 | Viewed by 2476
Abstract
Background: The range of pulmonary complications beyond infections in pediatric immunocompromised patients is broad but not well characterized. Our goal was to assess the spectrum of disorders with a focus on interstitial lung diseases (ILD) in immunodeficient patients. Methods: We reviewed 217 immunocompromised [...] Read more.
Background: The range of pulmonary complications beyond infections in pediatric immunocompromised patients is broad but not well characterized. Our goal was to assess the spectrum of disorders with a focus on interstitial lung diseases (ILD) in immunodeficient patients. Methods: We reviewed 217 immunocompromised children attending a specialized pneumology service during a period of 23 years. We assigned molecular diagnoses where possible and categorized the underlying immunological conditions into inborn errors of immunity or secondary immunodeficiencies according to the IUIS and the pulmonary conditions according to the chILD-EU classification system. Results: Among a wide array of conditions, opportunistic and chronic infections were the most frequent. ILD had a 40% prevalence. Of these children, 89% had a CT available, and 66% had a lung biopsy, which supported the diagnosis of ILD in 95% of cases. Histology was often lymphocyte predominant with the histo-pattern of granulomatous and lymphocytic interstitial lung disease (GLILD), follicular bronchiolitis or lymphocytic interstitial pneumonitis. Of interest, DIP, PAP and NSIP were also diagnosed. ILD was detected in several immunological disorders not yet associated with ILD. Conclusions: Specialized pneumological expertise is necessary to manage the full spectrum of respiratory complications in pediatric immunocompromised patients. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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14 pages, 679 KiB  
Article
Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension
by Karlijn Groen, Marloes P. Huitema, Joanne J. van der Vis, Marco C. Post, Jan C. Grutters, Robert P. Baughman and Coline H. M. van Moorsel
Diagnostics 2022, 12(10), 2564; https://doi.org/10.3390/diagnostics12102564 - 21 Oct 2022
Cited by 2 | Viewed by 1855
Abstract
Background: Pulmonary hypertension (PH) is a severe complication of sarcoidosis in a minority of patients. Several genetic defects are known to cause hereditary or sporadic PH, but whether variants in PH-associated genes are also involved in sarcoidosis-associated PH (SAPH) is unknown. Methods: 40 [...] Read more.
Background: Pulmonary hypertension (PH) is a severe complication of sarcoidosis in a minority of patients. Several genetic defects are known to cause hereditary or sporadic PH, but whether variants in PH-associated genes are also involved in sarcoidosis-associated PH (SAPH) is unknown. Methods: 40 patients with SAPH were individually matched to 40 sarcoidosis patients without PH (SA). Whole exome sequencing was performed to identify rare genetic variants in a diagnostic PH gene panel of 13 genes. Additionally, an exploratory analysis was performed to search for other genes of interest. From 572 genes biologically involved in PH pathways, genes were selected in which at least 15% of the SAPH patients and no more than 5% of patients without PH carried a rare variant. Results: In the diagnostic PH gene panel, 20 different rare variants, of which 18 cause an amino-acid substitution, were detected in 23 patients: 14 SAPH patients carried a variant, as compared to 5 SA patients without PH (p = 0.018). Most variants were of yet unknown significance. The exploratory approach yielded five genes of interest. First, the NOTCH3 gene that was previously linked to PH, and furthermore PDE6B, GUCY2F, COL5A1, and MMP21. Conclusions: The increased frequency of variants in PH genes in SAPH suggests a mechanism whereby the presence of such a genetic variant in a patient may increase risk for the development of PH in the context of pulmonary sarcoidosis. Replication and studies into the functionality of the variants are required for further understanding the pathogenesis of SAPH. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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10 pages, 2039 KiB  
Article
Do Not Miss Acute Diffuse Panbronchiolitis for Tree-in-Bud: Case Series of a Rare Lung Disease
by Johannes Raedler, Hannes Hoelz, Anna Zschocke, Judith Loeffler-Ragg, Marco Paolini, Julia Ley-Zaporozhan and Matthias Griese
Diagnostics 2022, 12(7), 1653; https://doi.org/10.3390/diagnostics12071653 - 7 Jul 2022
Cited by 1 | Viewed by 2788
Abstract
Acute bronchiolitis is a common disease of infants affecting the small airways. Rarely, acute bronchiolitis may occur in adolescents and adults. Here, we present four unrelated adolescent patients with severe clinical presentation and unique CT imaging with extensive tree-in-bud pattern, representing a rare [...] Read more.
Acute bronchiolitis is a common disease of infants affecting the small airways. Rarely, acute bronchiolitis may occur in adolescents and adults. Here, we present four unrelated adolescent patients with severe clinical presentation and unique CT imaging with extensive tree-in-bud pattern, representing a rare clinical phenotype of acute diffuse panbronchiolitis. This characteristic disease pattern caused by inhalation injury from waterpipes, smoked tobacco, and cannabinoids must be differentiated from e-cigarette or vaping product-use-associated lung injury (EVALI). Visual diagnosis of CT and an early diagnostic procedure for detection and differentiation of inhaled hazards, including sample storage for future identification of novel noxious agents, are warranted. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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Review

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16 pages, 825 KiB  
Review
Phenotypes and Serum Biomarkers in Sarcoidosis
by Matteo Della Zoppa, Francesco Rocco Bertuccio, Ilaria Campo, Fady Tousa, Mariachiara Crescenzi, Sara Lettieri, Francesca Mariani, Angelo Guido Corsico, Davide Piloni and Giulia Maria Stella
Diagnostics 2024, 14(7), 709; https://doi.org/10.3390/diagnostics14070709 - 27 Mar 2024
Cited by 1 | Viewed by 2074
Abstract
Sarcoidosis is a multisystem disease, which is diagnosed on a compatible clinical presentation, non-necrotizing granulomatous inflammation in one or more tissue samples, and exclusion of alternative causes of granulomatous disease. Considering its heterogeneity, numerous aspects of the disease remain to be elucidated. In [...] Read more.
Sarcoidosis is a multisystem disease, which is diagnosed on a compatible clinical presentation, non-necrotizing granulomatous inflammation in one or more tissue samples, and exclusion of alternative causes of granulomatous disease. Considering its heterogeneity, numerous aspects of the disease remain to be elucidated. In this context, the identification and integration of biomarkers may hold significance in clinical practice, aiding in appropriate selection of patients for targeted clinical trials. This work aims to discuss and analyze how validated biomarkers are currently integrated in disease category definitions. Future studies are mandatory to unravel the diverse contributions of genetics, socioeconomic status, environmental exposures, and other sociodemographic variables to disease severity and phenotypic presentation. Furthermore, the implementation of transcriptomics, multidisciplinary approaches, and consideration of patients’ perspectives, reporting innovative insights, could be pivotal for a better understanding of disease pathogenesis and the optimization of clinical assistance. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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20 pages, 1133 KiB  
Review
The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review
by Claudio Tirelli, Chiara Pesenti, Monica Miozzo, Michele Mondoni, Laura Fontana and Stefano Centanni
Diagnostics 2022, 12(12), 3107; https://doi.org/10.3390/diagnostics12123107 - 9 Dec 2022
Cited by 19 | Viewed by 3815
Abstract
Idiopathic pulmonary fibrosis (IPF) is a rare disease of the lung with a largely unknown etiology and a poor prognosis. Intriguingly, forms of familial pulmonary fibrosis (FPF) have long been known and linked to specific genetic mutations. There is little evidence of the [...] Read more.
Idiopathic pulmonary fibrosis (IPF) is a rare disease of the lung with a largely unknown etiology and a poor prognosis. Intriguingly, forms of familial pulmonary fibrosis (FPF) have long been known and linked to specific genetic mutations. There is little evidence of the possible role of genetics in the etiology of sporadic IPF. We carried out a non-systematic, narrative literature review aimed at describing the main known genetic and epigenetic mechanisms that are involved in the pathogenesis and prognosis of IPF and FPF. In this review, we highlighted the mutations in classical genes associated with FPF, including those encoding for telomerases (TERT, TERC, PARN, RTEL1), which are also found in about 10–20% of cases of sporadic IPF. In addition to the Mendelian forms, mutations in the genes encoding for the surfactant proteins (SFTPC, SFTPA1, SFTPA2, ABCA3) and polymorphisms of genes for the mucin MUC5B and the Toll-interacting protein TOLLIP are other pathways favoring the fibrogenesis that have been thoroughly explored. Moreover, great attention has been paid to the main epigenetic alterations (DNA methylation, histone modification and non-coding RNA gene silencing) that are emerging to play a role in fibrogenesis. Finally, a gaze on the shared mechanisms between cancer and fibrogenesis, and future perspectives on the genetics of pulmonary fibrosis have been analyzed. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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22 pages, 2616 KiB  
Review
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
by Spyros A. Papiris, Caroline Kannengiesser, Raphael Borie, Lykourgos Kolilekas, Maria Kallieri, Vasiliki Apollonatou, Ibrahima Ba, Nadia Nathan, Andrew Bush, Matthias Griese, Philippe Dieude, Bruno Crestani and Effrosyni D. Manali
Diagnostics 2022, 12(12), 2928; https://doi.org/10.3390/diagnostics12122928 - 23 Nov 2022
Cited by 8 | Viewed by 3117
Abstract
Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in [...] Read more.
Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing. Full article
(This article belongs to the Special Issue Molecular Diagnosis of Interstitial Lung Disease)
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