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Diagnostics
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Diagnosis and Management of Multiple Sclerosis
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Diagnosis and Management of Multiple Sclerosis

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

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 3036

Special Issue Editor

Dr. Clara Grazia Chisari

E-Mail Website
Guest Editor
Department of Anatomy, Biology and Genetics, Legal Medicine, Neuroscience, Diagnostic Pathology, Hygiene and Public Health (DANA) "Gian Filippo Ingrassia", The University of Catania | UNICT, Catania, Italy
Interests: multiple sclerosis; demyelinating diseases; clinical neurology; neurological diseases; neurodegeneration; neurodegenerative diseases; CNS demyelinating autoimmune diseases; neurologic examination; clinical neurophysiology; neuroimmunomodulation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system, characterized by demyelination and subsequent axonal degeneration. MS commonly presents in young adults and has a higher prevalence in women than in men. Typical symptoms at the onset of the disease include optic neuritis, numbness, weakness, loss of balance, dizziness, urinary dysfunction, fatigue, and depression.

The diagnosis of MS is primarily clinical and confirmed by brain imaging scans, demonstrating the presence of white matter lesions that are disseminated in time and space. To date, more than a dozen disease-modifying therapies (DMTs) have been approved by the U.S. Food and Drug Administration (FDA) with the aim of reducing the frequency and severity of relapses and also slowing the disability progression. The latest advancements in the management of MS treatment have provided new therapeutic options with more specific mechanisms of action and fewer side effects.

Moreover, several pharmacological options are commonly used to treat symptoms and comorbidities associated with MS and reduce their impact on a patient’s quality of life.

This Special Issue is focused on the challenges and recent advancements in MS diagnosis (i.e., new biomarkers and paraclinical investigations), recently approved DMTs and the management of MS symptoms. Authors can submit original articles, reviews or short communications.

Dr. Clara Grazia Chisari
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.

Published Papers (2 papers)

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Research

17 pages, 3155 KiB  
Article
Altered Lnc-EGFR, SNHG1, and LincRNA-Cox2 Profiles in Patients with Relapsing-Remitting Multiple Sclerosis: Impact on Disease Activity and Progression
by Mohamed S. Attia, Heba A. Ewida, Mohamed Aly Abdel Hafez, Shohda A. El-Maraghy and Maha M. El-Sawalhi
Diagnostics 2023, 13(8), 1448; https://doi.org/10.3390/diagnostics13081448 - 17 Apr 2023
Viewed by 1437
Abstract
Relapsing–remitting multiple sclerosis (RRMS) is the most prevalent MS subtype. Ample evidence has indicated that long noncoding RNAs (lncRNAs) are crucial players in autoimmune and inflammatory disorders. This study investigated the expression of lnc-EGFR, SNHG1, and lincRNA-Cox2 in RRMS patients during active relapses [...] Read more.
Relapsing–remitting multiple sclerosis (RRMS) is the most prevalent MS subtype. Ample evidence has indicated that long noncoding RNAs (lncRNAs) are crucial players in autoimmune and inflammatory disorders. This study investigated the expression of lnc-EGFR, SNHG1, and lincRNA-Cox2 in RRMS patients during active relapses and in remission. Additionally, the expression of FOXP3, a master transcription factor for regulatory T cells, and NLRP3-inflammasome-related genes were determined. Relationships between these parameters and MS activity and annualized relapse rate (ARR) were also evaluated. The study included 100 Egyptian participants: 70 RRMS patients (35 during relapse and 35 in remission) and 30 healthy controls. RRMS patients showed significant downregulation of lnc-EGFR and FOXP3 and dramatic upregulation of SNHG1, lincRNA-Cox2, NLRP3, ASC, and caspase-1 compared to controls. Lower serum TGF-β1 and elevated IL-1β levels were observed in RRMS patients. Notably, patients during relapses displayed more significant alterations than those in remission. Lnc-EGFR was positively correlated with FOXP3 and TGF-β1 and negatively correlated with ARR, SNHG1, lincRNA-Cox2, and NLRP3 inflammasome components. Meanwhile, SNHG1 and lincRNA-Cox2 were positively correlated with ARR, NLRP3, ASC, caspase-1, and IL-1β. Excellent diagnostic performance for lnc-EGFR, FOXP3, and TGF-β1 was demonstrated, while all biomarkers exhibited strong prognostic potential for predicting relapses. Finally, the differential expression of lnc-EGFR, SNHG1, and lincRNA-Cox2 in RRMS patients, especially during relapses, suggests their involvement in RRMS pathogenesis and activity. Correlation between their expression and ARR implies relationships to disease progression. Our findings also highlight their promising roles as biomarkers for RRMS. Full article
(This article belongs to the Special Issue Diagnosis and Management of Multiple Sclerosis)
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16 pages, 445 KiB  
Article
Serum and CSF Biomarkers Predict Active Early Cognitive Decline Rather Than Established Cognitive Impairment at the Moment of RRMS Diagnosis
by Vlad Eugen Tiu, Bogdan Ovidiu Popescu, Iulian Ion Enache, Cristina Tiu, Elena Terecoasa and Cristina Aura Panea
Diagnostics 2022, 12(11), 2571; https://doi.org/10.3390/diagnostics12112571 - 23 Oct 2022
Cited by 4 | Viewed by 1229
Abstract
(1) Background: Cognitive impairment (CI) begins early in the evolution of multiple sclerosis (MS) but may only become obvious in the later stages of the disease. Little data is available regarding predictive biomarkers for early, active cognitive decline in relapse remitting MS [...] Read more.
(1) Background: Cognitive impairment (CI) begins early in the evolution of multiple sclerosis (MS) but may only become obvious in the later stages of the disease. Little data is available regarding predictive biomarkers for early, active cognitive decline in relapse remitting MS (RRMS) patients. (2) Methods: 50 RRMS patients in the first 6 months following diagnosis were included. The minimum follow-up was one year. Biomarker samples were collected at baseline, 3-, 6- and 12-month follow-up. Cognitive performance was assessed at baseline and 12-month follow-up; (3) Results: Statistically significant differences were found for patients undergoing active cognitive decline for sNfL z-scores at baseline and 3 months, CSF NfL baseline values, CSF Aβ42 and the Bremso score as well. The logistic regression model based on these 5 variables was statistically significant, χ2(4) = 22.335, p < 0.0001, R2 = 0.671, with a sensitivity of 57.1%, specificity of 97.4%, a positive predictive value of 80% and a negative predictive value of 92.6%. (4) Conclusions: Our study shows that serum biomarkers (adjusted sNfL z-scores at baseline and 3 months) and CSF biomarkers (CSF NfL baseline values, CSF Aβ42), combined with a clinical score (BREMSO), can accurately predict an early cognitive decline for RRMS patients at the moment of diagnosis. Full article
(This article belongs to the Special Issue Diagnosis and Management of Multiple Sclerosis)
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