Rheumatology and immunology research最新文献

Objectives: The pan-European BENEFIT study of patients with stable rheumatoid arthritis (RA) or axial spondyloarthritis (axSpA) who transitioned from reference etanercept to SB4 found no clinically meaningful changes in disease control after transition. The analysis aims to illustrate the peculiarities of the Italian cohort of patients compared with the whole population to provide a more real-life approach to the data for the Italian rheumatologists, ruling out possible local confounding factors.

Methods: A prospective study for up to 6 months following transition was conducted. Outcome measures of interest include clinical characteristics at time of transition and disease activity scores (Disease Activity Score-28 [DAS28] for RA, Bath Ankylosing Spondylitis Disease Activity Index [BASDAI] for axSpA) over time and safety.

Results: One-hundred and eleven subjects (out of the 557 in total enrolled in the study) were derived from 8 Italian sites, including 79 with RA and 32 with axSpA. In both cohorts, the efficacy was maintained at 3 months and 6 months from the transition to the biosimilar with no significant change in mean DAS28 and BASDAI scores: at the end of the 6 months of observation the mean DAS28 and BASDAI was similar to baseline (confidence interval [CI] -0.22, 0.22), while the mean variation of the BASDAI was -0.14. Of note, 100.0% (95% CI 89.1, 100.0) in the axSpA and 90.8% (95% CI 81.5, 95.5) in the RA cohort of patients continued to receive SB4 at month 6 (binary variable with 95% Clopper-Pearson CI).

Conclusions: Italian patients with stable RA or axSpA who transitioned from originator Etanercept to SB4 maintained clinical response at 6 months post-transition. Both the cohorts are representative of typical patients with long-standing established diagnoses. Most of the patients transitioned to the same dose regimen of biosimilar as that received for the originator, and the regimen remained unchanged at 6 months, supporting the effectiveness of the transition.

Purpose of review-To review autoantibodies associated with different subtypes of idiopathic inflammatory myopathy (IIM) and their clinical applications. IIM are a heterogenous group of autoimmune disorders characterized by muscle weakness, cutaneous features, and internal organ involvement. The diagnosis and classification, which is often challenging, is made using a combination of clinical features, muscle enzyme levels, imaging, and biopsy. The landmark discoveries of novel autoantibodies specific to IIM subtypes have been one of the greatest advancements in the field of myositis. The specificity of these autoantibodies has simplified the diagnostic algorithm of IIM with their heterogenous presentation and outdated the earlier diagnostic criteria. Myositis-specific antibodies (MSAs) have improved diagnostics, clinical phenotyping, and prognostic stratification of the subtypes of IIMs. Furthermore, the levels of certain MSAs correlate with disease activity and muscle enzyme levels such that titers may be able to be used to predict disease course and treatment response.

Objectives: The purpose of this study was to identify and analyze the 100 top-cited articles in the field of osteoarthritis (OA) from 1990 to 2020.

Methods: We used the Web of Science to retrieve the articles related to OA. Then we selected 100 target articles and manually collected their general information, including article title, author, year of publication, journal, type of article, and the number of citations.

Results: The 100 top-cited articles were published in the period from 1990 to 2015. These articles have been cited 66,494 times in total, with the highest being 2382 times, the lowest being 433 times, the median number being 613, and a mean of 664.94 times. The 100 top-cited articles appeared in a total of 35 influential journals. The greatest number of articles in the top of 100 was published in Arthritis and Rheumatism. The authors of these articles came from 18 countries, led by the United States (n = 48), followed by the United Kingdom (n = 15). Among all the institutions, Boston University led the list with 10 articles. The most prevalent type of the study was review (n = 38) and clinical study (n = 38), followed by guideline (n = 12), basic science (n = 10) and other types.

Conclusions: This study provided some insights on the literature development and citation of OA in the recent 30 years. Articles published in high-impact journals are more likely to be cited in the field of OA. As recent studies did not have enough time to accumulate the number of citations, the latest articles may not be included in the top 100 cited articles.

Vaccination against coronavirus disease 2019 (COVID-19) has been promoted all over the world and has become an important measure to control the pandemic. Patients with rheumatic diseases are at high risk of 2019-nCoV severe infection, hence are the target population with high priority for vaccination. In 2021, under the leadership of the Chinese Rheumatology Association, the recommendations on SARS-CoV-2 vaccination for adult patients with rheumatic diseases in China were proposed based on the current data, in combination with international guidelines and experts' opinions.

Autoinflammatory diseases (AIDs) are a heterogeneous group of disorders in which recurrent or continuous aseptic inflammation arises primarily through antigen-independent hyperactivation of the innate immune system. The skin is frequently involved with a wide variety of cutaneous manifestations, most of which are non-specific. Recognition of skin lesions in AIDs may sometimes provide clues for a correct diagnosis. In this review, the cutaneous involvements of >20 selected AIDs were summarized and organized into different categories based on their characteristic manifestations, such as urticarial dermatosis, neutrophilic dermatosis, granulomatosis, chilblain, lipodystrophy, and hyperkeratosis. With this classification scheme, cutaneous manifestations in AIDs could be more easily identified to facilitate diagnosis in clinical practice.

Asthma is common in eosinophilic granulomatosis with polyangiitis (EGPA), and the annual incidence of EGPA in patients with asthma is much higher compared with the general population, and the trigger factor for this is unknown. We report a case of a 19-year-old male with a background of severe asthma who presented with eosinophilic lung infiltration after viral infection, which progressed to clinical EGPA. The diagnosis of EGPA was supported by an initial clinical presentation of recurrent cough and wheezing accompanied by a red rash, followed by peripheral eosinophilia, a high eosinophil percentage in bronchoalveolar lavage fluid (BALF), and migratory pulmonary eosinophilic infiltrates. Lung biopsy showed blood vessels with extravascular eosinophils. The patient responded well to high-dose glucocorticoids and cyclophosphamide, and symptoms and biochemical markers improved. Our literature review identified few reports on the triggers of EGPA, which highlights that viral infection may be a risk factor for asthma that progresses to EGPA.

Macroglobulinemia is associated with Schnitzler syndrome (SchS) and Waldenstrom macroglobulinemia (WM). The aim of this article was to review the above-mentioned two diseases from clinical aspects and their potential genetic links. We performed a PubMed search using the following keywords: "SchS," "WM," "autoinflammatory disease," "periodic fever syndrome," and "nucleotide-binding oligomerization domain containing protein 2 (NOD2)." A case is exemplified. Both SchS and WM share some clinical phenotypes, and SchS can evolve into WM. Though no genetic link to SchS has been established, myeloid differentiation primary response gene 88 (MyD88) mutations are detected in one-third of SchS patients and 86% WM patients. Genetic analysis of periodic fever syndrome genes has detected NOD2 mutations in 18% SchS patients and rarely NLRP3 mutations. The literature data suggest that both MyD88 and NOD2 mutations may contribute to SchS. Both MyD88 and NOD2 are known to play important roles in innate immune response, and they may be cooperative in certain autoinflammatory diseases. Molecular analysis of NOD2 mutations may be incorporated into genetic testing for patients with suspected SchS or SchS/WM.

Objectives: Yao syndrome (YAOS, OMIM 617321) was formerly designated as nucleotide-binding oligomerization domain-containing protein-2 (NOD2)-associated autoinflammatory disease (NAID). This disorder shares similar clinical phenotypes with hereditary periodic fever syndromes (HPFS). This study aimed to compare YAOS with familial Mediterranean fever (FMF).

Methods: In this retrospective study, electronic medical records of a case series of YAOS were reviewed and data were analyzed. All patients underwent genetic testing for periodic fever syndrome 6-gene panel.

Results: A total of 6 cases were presented. These patients were initially thought to have MEditerranean FeVer (MEFV)-negative FMF and received treatment with colchicine. They were eventually diagnosed with YAOS. The differences between these diseases were illustrated. In addition, both MEFV and NOD2 mutations were detected in some patients and family members. Patients with carriage of both gene mutations may present with heterogeneous disease expression. A close correlation between phenotypes and genotypes is needed to make a diagnosis.

Conclusions: YAOS may mimic FMF. Molecular analysis should cover NOD2 whole gene sequencing to help distinguish these diseases. Both NOD2 and MEFV mutations may contribute to disease expression in an individual.