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Special Issue Information

Dear Colleagues,

Diagnostics is launching a Special Issue focused on bone disorders in metabolic diseases (Inborn Errors of Metabolism (IEM)).

Interest in rare diseases has increased significantly in recent decades. Sensitive, high-throughput diagnostic methods, along with new therapies have appeared. This topic has become a center of interest for scientists, biochemists, geneticists and, above all, pediatricians.

On behalf of the Editorial office, I would like to invite you to contribute your research paper, review article, interesting case reports and descriptions of diagnostic methods for peer review and possible publication.

In patients with metabolic diseases, disorders in bone development, structure, and metabolism represent a great challenge for physicians and scientists. There are many unsolved problems regarding the pathological mechanisms of these disorders and the therapeutic options.

Young researchers are welcome to present their achievements, and pediatricians to share their experience and insights from their clinical practice. All are invited to present new metabolic disorders identified by next-generation sequencing (NGS). We encourage researchers to describe the advantages of new diagnostic methods as well as the pitfalls of common diagnostic methods of IEM. Also reports of long-term follow-ups of IEM patients, as well as their management and care ensured by multidisciplinary teams of physicians and other health providers, will be appreciated.

Prof. Dr. Anna Tylki-Szymańska
Dr. Patryk Lipiński
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

bone metabolism
metabolic bone involvement in inborn errors of metabolism (IEM)
mucopolysaccharidoses
mucolipidoses
bone and skeletal deformation in metabolic disorders
Gaucher disease
short stature in IEM
disturbances in calcium and phosphorus metabolism

Published Papers (2 papers)

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Research

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9 pages, 1255 KiB

Open AccessArticle

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

by Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska and Małgorzata Bednarska-Makaruk

Diagnostics 2021, 11(2), 320; https://doi.org/10.3390/diagnostics11020320 - 16 Feb 2021

Cited by 2 | Viewed by 2005

Abstract

Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This enzyme displays various functions in the organism and plays an important role in multiple processes like glucose metabolism, nociception, cell-adhesion, psychoneuroendocrine regulation, immune response and cardiovascular adaptation. In order to evaluate DPP-IV in lysosomal storage diseases (LSD), we examined its activity in plasma samples from 307 patients affected with 24 different LSDs and in 75 control persons. Our results revealed elevated DPP-IV activity especially in individuals affected with mucolipidosis II/III, alpha-mannosidosis, and mucopolysaccharidoses types III, II, and I (p < 0.05). In other LSDs the DPP-IV activity was still significantly increased, but to a lesser extent. In patients with Gaucher disease, ceroid lipofuscinosis type 1 (CLN1), Niemann–Pick disease type C and A, Krabbe and Pompe diseases, gangliosidosis GM2 and metachromatic leukodystrophy discreet or no changes in DPP-IV activity were observed. DPP-IV may serve as a first-tier diagnostic procedure or additional biochemical analysis in recognizing patients with some LSDs. DPP-IV may become an object of basic research for a better understanding of LSDs. Full article

(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases)

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Review

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24 pages, 1676 KiB

Open AccessReview

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

by Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska and Aleksandra Jezela-Stanek

Diagnostics 2021, 11(8), 1438; https://doi.org/10.3390/diagnostics11081438 - 9 Aug 2021

Cited by 7 | Viewed by 3163

Abstract

Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density. Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia. In some of them, prenatal-onset severe skeletal dysplasia is observed associated with early death. Osteoporosis or osteopenia are frequently observed in all CDG types and are more pronounced in adults. Hormonal dysfunction, limited mobility and inadequate diet are common risk factors for reduced bone mineral density. Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced. This review focuses on possible mechanisms of skeletal manifestations, risk factors for osteoporosis, and bone markers in reported paediatric and adult CDG patients. Full article

(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases)

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