Diagnostics

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Special Issue Editor

Prof. Dr. Bülent Taner Karadaǧ

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Guest Editor

Department of Pediatric Pulmonology, Marmara University School of Medicine, 34854 Istanbul, Turkey
Interests: cystic fibrosis; bronchiectasis; primary ciliary dyskinesia; asthma

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is a common genetic disease caused by the defective production of CFTR protein. Understanding the basic genetic defect of CF enabled new treatment modalities including CFTR modulators in the developed countries. In the developing world, CF remains a problematic situation especially with regard to the diagnosis of the disease. Limited access to sweat testing in many parts of the world creates an inequity in the management of the disease worldwide. Genetics, which is the main part of the diagnosis, is evolving with many variants with unknown significance. In addition to this, management of CF in the centres, transition to adulthood care are other issues waiting to be resolved in many countries. The primary aims of this issue, Advances in Diagnosis and Management of Cystic Fibrosis; are to define the diagnostic difficulties, discover new diagnostic opportunities in CF, discuss the evolving genetic methods and the problems in the management of CF, as well as the transition to adulthood programs. Also, to review the recent situation in the therapeutic regimens including CFTR modulators are under the scope of this issue.

Prof. Dr. Bülent Taner Karadaǧ
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

cystic fibrosis
diagnosis
management
sweat testing
genetics
CFTR modulators
transition
treatment

Published Papers (2 papers)

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Review

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30 pages, 1120 KiB

Open AccessReview

Diagnosing Cystic Fibrosis in the 21st Century—A Complex and Challenging Task

by Dana-Teodora Anton-Păduraru, Alice Nicoleta Azoicăi, Felicia Trofin, Dana Elena Mîndru, Alina Mariela Murgu, Ana Simona Bocec, Codruța Olimpiada Iliescu Halițchi, Carmen Iulia Ciongradi, Ioan Sȃrbu and Maria Liliana Iliescu

Diagnostics 2024, 14(7), 763; https://doi.org/10.3390/diagnostics14070763 - 03 Apr 2024

Viewed by 841

Abstract

Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype–phenotype correlations germane to genetic counseling endeavors. The synthesis underscores that, notwithstanding the availability and strides in diagnostic methodologies, including genetic assays, the sweat test (ST) retains its position as the preeminent diagnostic standard for CF, serving as a robust surrogate for CFTR functionality. Prospective clinical investigations in the realm of CF should be orchestrated with the objective of discerning novel diagnostic modalities endowed with heightened specificity and sensitivity. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Cystic Fibrosis)

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Other

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15 pages, 2307 KiB

Open AccessSystematic Review

A Systematic Review of the Effect of Cystic Fibrosis Treatments on the Nasal Potential Difference Test in Animals and Humans

by Cathalijn Leenaars, Christine Häger, Frans Stafleu, Hendrik Nieraad and André Bleich

Diagnostics 2023, 13(19), 3098; https://doi.org/10.3390/diagnostics13193098 - 29 Sep 2023

Cited by 1 | Viewed by 913

Abstract

To address unmet treatment needs in cystic fibrosis (CF), preclinical and clinical studies are warranted. Because it directly reflects the function of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), the nasal potential difference test (nPD) can not only be used as a reliable diagnostic test for CF but also to assess efficacy of experimental treatments. We performed a full comprehensive systematic review of the effect of CF treatments on the nPD compared to control conditions tested in separate groups of animal and human subjects. Our review followed a preregistered protocol. We included 34 references: 20 describing mouse studies, 12 describing human studies, and 2 describing both. We provide a comprehensive list of these studies, which assessed the effects of antibiotics, bone marrow transplant, CFTR protein, CFTR RNA, directly and indirectly CFTR-targeting drugs, non-viral and viral gene transfer, and other treatments. Our results support the nPD representing a reliable method for testing treatment effects in both animal models and human patients, as well as for diagnosing CF. However, we also observed the need for improved reporting to ensure reproducibility of the experiments and quantitative comparability of the results within and between species (e.g., with meta-analyses). Currently, data gaps warrant further primary studies. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Cystic Fibrosis)

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