Rheumatic Diseases: Diagnosis and Management

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 October 2024) | Viewed by 13122

Special Issue Editor


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Guest Editor
Department of Internal Medicine, Division of Rheumatology, Dell Medical School, The University of Texas, 1601 Trinity St., Austin, TX 78712, USA
Interests: cell biology; gene expression; molecular medicine; molecular neurobiology; rheumatism
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Special Issue Information

Dear Colleagues,

Rheumatic disease treatment paradigms are becoming increasingly complex. Recognition of new autoimmune and autoinflammatory conditions, side effects related to immunotherapy, and complications arising from post-pandemic-related symptoms coupled with the burgeoning landscape of biologic therapies together with various immunomodulators targeting alternative inflammatory pathways has enabled for a plethora of new approaches targeting many longstanding conditions. Our increased knowledge base gives afflicted individuals more options; however, it also increases the complexity of treatment decisions for practitioners. The goal of this Special Issue is to focus on selected areas in rheumatology and provide evidence-based approaches to diagnosis and/or management for these conditions.

Prof. Dr. Kevin V. Hackshaw
Guest Editor

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Keywords

  • rheumatic diseases
  • biomarker
  • diagnosis
  • diagnostic techniques
  • rheumatic heart disease
  • rheumatoid arthritis

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Published Papers (5 papers)

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Research

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10 pages, 633 KiB  
Article
Influence of Right Atrial Pressure on the Prognosis of Patients with Rheumatic Mitral Stenosis Undergoing Percutaneous Mitral Balloon Valvuloplasty
by Daniella Cian Nazzetta, Larissa Christine Gomes de Sousa, Vitor Emer Egypto Rosa, Fernanda Castiglioni Tessari, Carlos M. Campos, Maria Antonieta Albanez Medeiros Lopes, Carlos Viana Poyares Jardim, Luís Gustavo Mapa, Layara Fernanda Vicente Pereira Lipari, Mariana Pezzute Lopes, João Ricardo Cordeiro Fernandes, Antonio de Santis, Lucas José Neves Tachotti Pires, Roney Orismar Sampaio and Flávio Tarasoutchi
Diagnostics 2024, 14(18), 2079; https://doi.org/10.3390/diagnostics14182079 - 19 Sep 2024
Viewed by 649
Abstract
Background: Pulmonary hypertension (PH) often complicates mitral stenosis (MS). The prognostic impact of pulmonary vascular resistance (PVR) in MS patients remains unclear. Previous study has demonstrated the prognostic impact of right atrial pressure (RAP) in patients with primary PH. We aim to determine [...] Read more.
Background: Pulmonary hypertension (PH) often complicates mitral stenosis (MS). The prognostic impact of pulmonary vascular resistance (PVR) in MS patients remains unclear. Previous study has demonstrated the prognostic impact of right atrial pressure (RAP) in patients with primary PH. We aim to determine the prognostic impact of PVR and RAP in patients with rheumatic MS undergoing percutaneous mitral balloon valvuloplasty (PMBV). Methods: A total of 58 patients with symptomatic severe rheumatic MS who underwent PMBV between 2016 and 2020 were included. Patients were divided into two groups: PVR ≤ 2WU (N = 26) and PVR > 2WU (N = 32). The composite endpoint included death, reintervention or persistent NYHA functional class III-IV during follow-up. Results: The median age was 50 (42–60) years, with 82.8% being female. Median pulmonary artery systolic pressure (PASP) was 42 (35–50.5) mmHg. Patients with PVR ≤ 2WU had lower PASP on both echocardiogram and catheterization. The PMBV success rate was 75.9%. Multivariate analysis, adjusted for PVR, showed RAP as the only independent predictor of the composite endpoint (HR:1.507, 95% CI:1.015–2.237, p = 0.042). The optimal RAP cutoff was 9.5 mmHg (HR:3.481, 95% CI:1.041–11.641; p = 0.043). Conclusions: RAP was an independent predictor of adverse outcomes in patients with rheumatic MS undergoing PMBV, while PVR did not show prognostic significance. These findings suggest that the prognostic value of PVR may be lower than expected. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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Review

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24 pages, 646 KiB  
Review
Common Non-Rheumatic Medical Conditions Mimicking Fibromyalgia: A Simple Framework for Differential Diagnosis
by Andrea D’Amuri, Salvatore Greco, Mauro Pagani, Barbara Presciuttini, Jacopo Ciaffi and Francesco Ursini
Diagnostics 2024, 14(16), 1758; https://doi.org/10.3390/diagnostics14161758 - 13 Aug 2024
Cited by 1 | Viewed by 1797
Abstract
Fibromyalgia (FM) is a chronic non-inflammatory disorder mainly characterized by widespread musculoskeletal pain, fatigue, sleep disturbances, and a constellation of other symptoms. For this reason, delineating a clear distinction between pure FM and FM-like picture attributable to other common diseases can be extremely [...] Read more.
Fibromyalgia (FM) is a chronic non-inflammatory disorder mainly characterized by widespread musculoskeletal pain, fatigue, sleep disturbances, and a constellation of other symptoms. For this reason, delineating a clear distinction between pure FM and FM-like picture attributable to other common diseases can be extremely challenging. Physicians must identify the most significant confounders in individual patients and implement an appropriate diagnostic workflow, carefully choosing a minimal (but sufficient) set of tests to be used for identifying the most plausible diseases in the specific case. This article discusses prevalent non-rheumatological conditions commonly observed in the general population that can manifest with clinical features similar to primary FM. Given their frequent inclusion in the differential diagnosis of FM patients, the focus will be on elucidating the distinctive clinical characteristics of each condition. Additionally, the most cost-effective and efficient diagnostic methodologies for accurately discerning these conditions will be examined. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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21 pages, 702 KiB  
Review
Risk Assessment and Optimization for Pregnancy in Patients with Rheumatic Diseases
by Alyssa Kwok
Diagnostics 2024, 14(13), 1414; https://doi.org/10.3390/diagnostics14131414 - 2 Jul 2024
Viewed by 1774
Abstract
Patients with rheumatic diseases frequently operate with incomplete or incorrect information while planning for and experiencing pregnancy, often due to variability in provider care and knowledge. Risk assessment at each stage of pregnancy—pre-conception, during pregnancy, and postpartum—is focused on reducing maternal and neonatal [...] Read more.
Patients with rheumatic diseases frequently operate with incomplete or incorrect information while planning for and experiencing pregnancy, often due to variability in provider care and knowledge. Risk assessment at each stage of pregnancy—pre-conception, during pregnancy, and postpartum—is focused on reducing maternal and neonatal complications. This review aims to compile updated, evidence-based guidance on how to minimize risk factors contributing to adverse pregnancy outcomes (APOs). Mitigation of known causes of infertility, appropriate testing and monitoring, achieving low disease activity on pregnancy-safe disease-modifying antirheumatic drugs (DMARDs) prior to conception, controlling hypertension (a frequent comorbidity among patients with certain rheumatic diseases), and the use of appropriate adjunctive medications (such as low-dose aspirin when preeclampsia risk is high) can optimize fertility and prevent adverse maternal and neonatal outcomes. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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13 pages, 434 KiB  
Review
The Challenge of Neuropsychiatric Systemic Lupus Erythematosus: From Symptoms to Therapeutic Strategies
by Veena Patel
Diagnostics 2024, 14(11), 1186; https://doi.org/10.3390/diagnostics14111186 - 5 Jun 2024
Cited by 2 | Viewed by 3567
Abstract
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular [...] Read more.
Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can seriously impair multiple organs including the nervous system, causing neuropsychiatric SLE (NPSLE), which encompasses a broad range of symptoms. Pathogenesis is not completely understood but is thought to involve inflammatory and vascular pathways. This comprehensive review discusses the complex nature and heterogeneity of NPSLE and the challenges in diagnosis and treatment that result from it. Diagnosis often requires a multidisciplinary approach with multiple assessments, including laboratory testing, imaging, and neuropsychological evaluations. Current treatments focus on managing symptoms through immunosuppressive and anti-thrombotic therapies tailored to the inflammatory or vascular nature of the specific NPSLE manifestations. This paper emphasizes the necessity for interdisciplinary approaches and further research to enhance diagnostic accuracy and treatment effectiveness. It also highlights the importance of understanding the underlying mechanisms of NPSLE to develop more targeted therapies, citing the need for high-quality studies and novel treatment agents. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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10 pages, 1626 KiB  
Review
Comprehensive Exploration of Antinuclear Antibodies (ANAs): Unveiling Clinical Significance, Associations with Cancer, and the Nuances of Differential Diagnosis in Positive ANA Patients
by Krasimir Kraev, Bozhidar Hristov, Petar Uchikov, Maria Kraeva, Yordanka Basheva-Kraeva, Siyana Valova, Maria Koleva-Ivanova, Stanislava Popova-Belova, Milena Sandeva, Dzhevdet Chakarov and Mariela Geneva-Popova
Diagnostics 2024, 14(3), 320; https://doi.org/10.3390/diagnostics14030320 - 1 Feb 2024
Viewed by 4726
Abstract
This comprehensive review delves into the complex realm of antinuclear antibodies (ANAs), expanding beyond their traditional involvement in autoimmune rheumatic disorders. By digging into historical changes, diagnostic complexity, and clinical significance, the debate reveals the shifting relationships between ANAs, particularly with cancer. Specialized [...] Read more.
This comprehensive review delves into the complex realm of antinuclear antibodies (ANAs), expanding beyond their traditional involvement in autoimmune rheumatic disorders. By digging into historical changes, diagnostic complexity, and clinical significance, the debate reveals the shifting relationships between ANAs, particularly with cancer. Specialized studies provide practical insights on ANA testing processes, standardization, and upcoming challenges. Examining prevalence trends in the United States provides a time dimension to ANA dynamics, linking autoimmune and oncological considerations. The debate delves into the complexity of lupus erythematosus, emphasizing ANAs’ diverse presentations and their potential as flexible diagnostic and prognostic indicators. The complex relationship between ANAs and cancer is highlighted, demonstrating their potential as early markers or indicators of malignancies. Looking ahead, this synthesis anticipates advances in personalized medicine and collaborative research, putting ANAs at the forefront of advanced diagnostics and treatments for autoimmune disorders and cancer. This synthesis envisions a future for ANA research in which these antibodies play a critical role in promoting personalized treatment, enhancing diagnostics, and fostering collaborative initiatives that cross traditional boundaries. As ANAs grow more prominent at the junction of autoimmune illnesses and cancer, this synthesis lays the path for further research and novel advances in understanding, diagnosing, and treating complicated medical conditions. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis and Management)
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