Special Issue "Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pulmonology".

Deadline for manuscript submissions: 15 June 2022.

Special Issue Editor

Prof. Dr. Francisco Dasí
E-Mail Website
Guest Editor
Department of Physiology, School of Medicine, University of Valencia, 46010 Valencia, Spain
Interests: rare respiratory diseases; alpha-1 antitrypsin deficiency; primary ciliary dyskinesia; cystic fibrosis; idiopathic pulmonary fibrosis
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Special Issue Information

Dear Colleagues,

About two years ago, we proposed to the Journal of Clinical Medicine editorial board to launch a Special Issue on rare respiratory diseases to promote research in this important field of medicine. Even in these times of pandemic, researchers have been very active, and the issue was quite successful, with 19 articles submitted, of which 11 were published (https://www.mdpi.com/journal/jcm/special_issues/Rare_Respiratory_Diseases).

During the last few months, some of the authors who published their research in our first Special Issue have been asking about the possibility of launching a second Special Issue on rare respiratory diseases. In response to their requests and the growing interest in this type of pathologies, we have decided to launch a second issue on rare respiratory diseases.

Just as a brief reminder. A rare disease is defined as any disease that affects a small percentage of the population. Rare diseases are, in general, complex, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that the number of people worldwide living with a rare disease is about 300 million; indeed, a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments.

In this second issue, we would like to show a special interest in pulmonary arterial hypertension (PAH), a complex disease characterized by elevated pulmonary arterial resistance, right ventricle failure, and premature death. Articles on PAH are most welcome and will receive special attention.

Finally, given the great social burden of this type of disease, we extend the spectrum of articles of interest to the social aspects of rare respiratory diseases.

We hope this new issue will be of interest to you, and we look forward to receiving your basic, clinical, and social research papers.

Prof. Dr. Francisco Dasí
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 papers will be 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. Journal of Clinical Medicine 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 2200 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

  • rare diseases
  • rare respiratory diseases
  • alpha-1 antitrypsin deficiency
  • primary ciliary dyskinesia
  • cystic fibrosis
  • idiopathic pulmonary fibrosis
  • lymphangioleiomyomatosis
  • interstitial lung diseases
  • pulmonary arterial hypertension

Published Papers (2 papers)

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Research

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Article
A Study on the Genetics of Primary Ciliary Dyskinesia
J. Clin. Med. 2021, 10(21), 5102; https://doi.org/10.3390/jcm10215102 - 30 Oct 2021
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Abstract
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD [...] Read more.
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity. Sequence alignment and the Jensen–Shannon Divergence (JSD) were generated to evaluate the amino acid conservation at the site of the variation. One-hundred and twelve variants of 28 genes linked to PCD were identified in 66 patients. Twenty-two variants were double heterozygous, two triple heterozygous, and seven homozygous. Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 (DNAH11) and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms. Homozygous C1orf127:p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients. The majority of variants were missense involving conserved residues with a median JSD score of 0.747. Homology models of two deleterious variants in the stalk of DNAH11, p.Gly3102Asp and p.Leu3127Arg, revealed structural importance of the conserved glycine and leucine. These results define potentially damaging PCD variants in the region. Future studies, however, are needed to fully comprehend the genetic underpinnings of PCD. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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Review

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Review
Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review
J. Clin. Med. 2021, 10(21), 5132; https://doi.org/10.3390/jcm10215132 - 31 Oct 2021
Viewed by 384
Abstract
Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the [...] Read more.
Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in PubMed in July 2021. The selection criteria included (1) any type of study design that included a quantification of AAT in peripheral blood; (2) studies written in English or Spanish; (3) studies evaluating human beings; and (4) studies involving adults. Results: Out of 207 studies, the most frequently used techniques were nephelometry (43.9%), followed by ELISA (19.8%) and turbidimetry (13.5%). Altogether, 182 (87.9%) cases expressed their results in units of gram, while 16 (7.7%) articles expressed them in units of mole. Only 2.9% articles referred to the standard used, 43.5% articles indicated the commercial kit used, and 36.2% indicated the analyzer used. Conclusions: The technical aspects of these determinations are not always reported in the literature. Journals should be attentive to these technical requirements and ensure that they are included in the works in which AAT is determined in order to ensure a correct interpretation of the study findings. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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