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Diagnostics
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Current Perspectives and Gaps in the Diagnosis and Management of...
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Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases

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

Deadline for manuscript submissions: 28 February 2026 | Viewed by 1419

Special Issue Editor

Dr. Vikas Majithia

E-Mail Website
Guest Editor
Division of Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, NY, USA
Interests: rheumatology

Special Issue Information

Dear Colleagues,

The diagnosis and management of rheumatic diseases remain challenging due to the complexity of the immune system, heterogeneity in presentation, diagnostic dilemmas, and gaps in management. More than 100 rheumatic diseases have been identified, encompassing a spectrum from degenerative diseases such as osteoarthritis to prototypical autoimmune inflammatory disorders such as rheumatoid arthritis, systemic lupus erythematosus, vasculitis, spondyloarthritis, and others to auto-inflammatory syndromes. Rheumatic diseases affect up to one-third of the general population [1]. Furthermore, the impact on the quality of life, both in terms of morbidity and in the number of years lost, is tremendous [1]. In this Special Issue entitled "Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases," we invite investigators to contribute original research or review articles that focus on the current understanding of rheumatic diseases, with a focus on various perspectives and gaps in their diagnosis and management.

References:

Salaffi F, Di Carlo M, Carotti M, Farah S, Ciapetti A, Gutierrez M. The impact of different rheumatic diseases on health-related quality of life: a comparison with a selected sample of healthy individuals using SF-36 questionnaire, EQ-5D and SF-6D utility values. Acta Biomed. 2019 Jan 15;89(4):541–557.

Dr. Vikas Majithia
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

  • rheumatology
  • rheumatic diseases
  • inflammatory connective tissue diseases
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • vasculitis
  • spondyloarthritis
  • scleroderma
  • osteoarthritis
  • current perspective
  • diagnosis
  • treatment
  • management

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

Jump to: Other

11 pages, 269 KiB  
Article
Longitudinal Study of Patients with Connective Tissue Disease–Interstitial Lung Disease and Response to Mycophenolate Mofetil and Rituximab
by Yan Li, Sehreen Mumtaz, Hassan Z. Baig, Isabel Mira-Avendano, Benjamin Wang, Carlos A. Rojas, Justin T. Stowell, Elizabeth R. Lesser, Shalmali R. Borkar, Vikas Majithia and Andy Abril
Diagnostics 2024, 14(23), 2702; https://doi.org/10.3390/diagnostics14232702 - 30 Nov 2024
Cited by 1 | Viewed by 903
Abstract
Background/Objective: To investigate the effect of mycophenolate mofetil (MMF) and rituximab (RTX) on pulmonary function test (PFT) results in a mixed cohort of patients with connective tissue disease-associated interstitial lung disease (CTD-ILD), longitudinally followed up for 1 year in a single academic center. [...] Read more.
Background/Objective: To investigate the effect of mycophenolate mofetil (MMF) and rituximab (RTX) on pulmonary function test (PFT) results in a mixed cohort of patients with connective tissue disease-associated interstitial lung disease (CTD-ILD), longitudinally followed up for 1 year in a single academic center. Methods: Patients with CTD-ILD were identified in electronic medical records from 1 January 2009 to 30 April 2019. Prescribed MMF and RTX doses, dosage changes, and therapy plans were analyzed individually with improvement in PFT outcomes determined using multivariable linear regression models during 12-month follow-up. Results: Forty-seven patients with CTD-ILD, treated with MMF, RTX, or both, were included. Patients on combined MMF and RTX had worse PFT outcomes at baseline compared with patients on monotherapy. Substantial improvement was observed among all PFT outcomes from baseline to 12 months, regardless of medication dosage or therapy plans. The diffusing capacity of the lungs for carbon monoxide (DLCO) worsened by an average of 7.21 mL/(min*mmHg) (95% CI, 4.08–10.33; p < 0.001) among patients on RTX compared to combined therapy. Patients on higher doses of MMF at baseline experienced an average increase of 0.93 (95% CI, 0.04–1.82) units in DLCO from baseline to 6 months (p = 0.04) and a 2.79% (95% CI, 0.61–4.97%) increase in DLCO from 6 to 12 months (p = 0.02) within patients on concurrent RTX at 6-month follow-up. Conclusions: The treatment of CTD-ILD with MMF and/or RTX was associated with overall improvement in PFT outcomes. Combined therapy resulted in significant improvements in DLCO compared with monotherapy. Higher doses of MMF also provided greater improvements in DLCO. Full article
(This article belongs to the Special Issue Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases)

Other

Jump to: Research

9 pages, 459 KiB  
Brief Report
Autoimmune Inner Ear Disease from a Rheumatologic Perspective
by Maximiliano Diaz-Menindez, Ana-Maria Chindris, Carolyn Mead-Harvey, Yan Li, Ronald R. Butendieck, Jr., Razvan M. Chirila, Katherine L. Britt and Florentina Berianu
Diagnostics 2025, 15(13), 1577; https://doi.org/10.3390/diagnostics15131577 - 21 Jun 2025
Viewed by 182
Abstract
Background/Objectives: Autoimmune inner ear disease (AIED) causes sensorineural hearing loss that classically presents as fluctuating, asymmetric loss of hearing. Associated vestibular and other ear symptoms can be present in many patients. First-line treatment of AIED is high-dose corticosteroids. AIED can present either [...] Read more.
Background/Objectives: Autoimmune inner ear disease (AIED) causes sensorineural hearing loss that classically presents as fluctuating, asymmetric loss of hearing. Associated vestibular and other ear symptoms can be present in many patients. First-line treatment of AIED is high-dose corticosteroids. AIED can present either as a primary condition limited to ear involvement or secondary, as part of an underlying systemic autoimmune rheumatic disease, the most common of which include vasculitis and relapsing polychondritis. We described our cohort of primary AIED, including demographics, treatment, and outcomes. We excluded from this review sensorineural hearing loss in the context of vasculitis and relapsing polychondritis. Methods: We performed a chart review of patients with the diagnosis of AIED at Mayo Clinic and compared the cohort by sex. Results: Thirty-one patients met the inclusion criteria. The mean age was 48.5 years, and 17 were men. Patients were initially evaluated at the Department of Otorhinolaryngology or Internal Medicine, and 29 patients were subsequently referred to the Department of Rheumatology, with a mean of 12.2 weeks after the first evaluation. Treatment with corticosteroids showed improvement in hearing and vestibular symptoms during the first month but no further improvement by the end of the third month. Other immunosuppressive medications were used with various degrees of response. Methotrexate was the second most used therapy, with 11 of 17 patients reporting an improvement in symptoms. Conclusions: Corticosteroid therapy is an effective initial treatment for AIED and should be followed with corticosteroid-sparing agents to prevent further damage to the cochlea. Full article
(This article belongs to the Special Issue Current Perspectives and Gaps in the Diagnosis and Management of Rheumatic Diseases)
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