Clinical and experimental rheumatology最新文献

{"title":"Cardiac involvement in Behçet's disease: a comprehensive state-of-the-art review.","authors":"Nabil Belfeki, Nouha Ghriss, Faten Jebri, Houssem Hamrouni, Gülen Hatemi, Arsène Mekinian","doi":"10.55563/clinexprheumatol/6h353p","DOIUrl":"10.55563/clinexprheumatol/6h353p","url":null,"abstract":"<p><p>Behçet's disease (BD) is a chronic multisystemic inflammatory vasculitis which can cause cardiac involvement in less than 6%. It can affect all cardiac wall giving rise to pericarditis, myocarditis, endocardial lesions with valvular involvement (especially aortic insufficiency), intracardiac thrombosis, coronary arteritis, myocardial infarcts, arrythmia, and aortitis. Clinical presentation can be confusing, silent, or overshadowed, so diagnosis is frequently delayed. Early diagnosis is mandatory and different imaging techniques play a pivotal role to screen the heart. Biological agents, including tumour necrosis factor inhibitors, show promising results. Cardiac surgery must be accompanied by immunosuppressive therapy to prevent iatrogenic or trauma-triggered pseudo aneurysm secondary to arterial hypersensitivity. A multidisciplinary approach and tailored monitoring are essential to improve patient outcome. Strong data are still lacking to define evidence-based diagnostic algorithms, risk-stratification tools, and standardised management strategies for this severe cardiac manifestation. Besides, further studies are needed to determine specific biomarkers to refine early diagnosis, assess therapeutic efficiency, and prognosis. Through a comprehensive literature review, we aim to synthesise current data on the epidemiology, clinical presentation, contemporary imaging modalities, prognosis, and evidence‑based management strategies of cardiac involvement in BD, and to highlight emerging perspectives.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2140-2152"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FMO2+ fibroblasts as a potential disease-associated subset in the submandibular gland of IgG4-related disease: insights from single-cell RNA sequencing comparative analysis with the labial gland in primary Sjögren's syndrome.","authors":"Hui Lu, Yanmei Li, Hongyan Liu, Haiyun Li, Juan Meng","doi":"10.55563/clinexprheumatol/kft03v","DOIUrl":"https://doi.org/10.55563/clinexprheumatol/kft03v","url":null,"abstract":"<p><strong>Objectives: </strong>To perform a comprehensive analysis of the immune landscapes in submandibular glands of IgG4-related disease (IgG4-RD) and labial salivary glands of primary Sjögren's syndrome (pSS).</p><p><strong>Methods: </strong>Five single-cell transcriptomics datasets of submandibular glands (SG) harvested from IgG4-RD patients and seven single-cell transcriptomics datasets of labial glands (LG) derived from pSS patients were processed and integrated by Seurat and Harmony R packages. After identifying cell types by classic marker genes, differential abundance analysis, functional enrichment and cell-cell communication were performed.</p><p><strong>Results: </strong>After integrating single-cell RNA sequencing datasets, thirteen distinct subsets were identified. Differential abundance analysis revealed significant enrichment of LZ_GC B cells, DZ_GC B cells, Naive B cells, IgG4+plasma cells, CD4+DUSP4+MAF+T, CD4+TCM, CD8+TEM, Tfh, Treg, FMO2+ monocytes, M2 macrophages and FMO2+ fibroblasts in SG from patients with IgG4-RD compared to those in LG tissues in patients with pSS. FMO2+ fibroblasts were heterogeneous from other subpopulations with high expression of SELENOP, SEPTIN7, SELENOW, CCN1, LHFPL6, BEX3, CCN2, REX1BD, TMEM35B, TLE5. Gene Ontology (GO) analysis of the differentially expressed genes implicated this population in critical processes, including the humoral immune response, oxidative phosphorylation, and fibroblast proliferation. Moreover, we found the chemerin signalling pathway was the primary ligand-receptor interaction between fibroblasts and macrophages in SG from IgG4-RD. Specifically, Chemerin (encoded by RARRES2), the ligand in the CHEMERIN signalling pathway, was mainly expressed in fibroblasts and its receptors CMKLR1 and CCRL2 were primarily expressed on both macrophages and fibroblasts.</p><p><strong>Conclusions: </strong>FMO2+ fibroblasts emerged as a candidate cell subset potentially associated with the submandibular gland micro-environment in IgG4-RD. These findings provided a foundation for future functional studies to elucidate the potential roles of fibroblast-immune cell interactions in the pathogenesis of IgG4-RD.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Illness perception as a determinant of medication adherence in adult Turkish patients with familial Mediterranean fever.","authors":"Sibel Yilmaz-Oner, Nesrin Sen, Sevtap Acer Kasman, Duygu Sahin, Nihan Neval Uzun, Sibel Osken, Omur Volkan, Can Oner, Mehmet Engin Tezcan","doi":"10.55563/clinexprheumatol/z97by2","DOIUrl":"10.55563/clinexprheumatol/z97by2","url":null,"abstract":"<p><strong>Objectives: </strong>Familial Mediterranean fever (FMF) requires lifelong colchicine therapy, yet suboptimal adherence remains a major challenge. Illness perception shaped by psychological representations of disease may affect adherence. This study aimed to investigate illness perception and adherence association in adult Turkish patients with FMF.</p><p><strong>Methods: </strong>This cross-sectional study included 304 adult FMF patients followed at Kartal Dr. Lutfi Kirdar City Hospital between 2022 and 2024. Medication adherence and illness perception were evaluated by Medication Adherence Scale for FMF (MASIF) and the Brief Illness Perception Questionnaire (Brief-IPQ). Demographic, clinical, and laboratory data were collected. Statistical analyses included chi-square, t-test, Mann-Whitney U test, correlation analysis and multivariate logistic regression.</p><p><strong>Results: </strong>The cohort included 210 (69.1%) females and 94 (30.9%) males with a mean age of 35.8±12.1 years. Overall, 75.3% of patients showed good adherence, with a mean MASIF score of 67.1±9.6. Median Brief-IPQ score was 44 (IQR 16.0), the highest in the \"timeline\" domain and the lowest in \"illness comprehensibility\". A significant negative correlation was found between MASIF and Brief-IPQ scores (r=-0.374, p<0.001). Patients with good adherence had significantly lower illness perception scores, particularly in \"personal control\", \"treatment control\" and \"illness comprehensibility\" domains (p<0.001). Multivariate logistic regression confirmed these domains as independent predictors of adherence.</p><p><strong>Conclusions: </strong>Medication adherence among adult Turkish patients with FMF was relatively high but closely influenced by illness perception. Patients with clearer disease understanding and positive control beliefs demonstrated better adherence. Addressing illness perception through education and psychosocial support may enhance adherence and improve long-term outcomes in FMF.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2031-2037"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146009256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3rd Familial Mediterranean Fever Meeting.","authors":"Eldad Ben-Chetrit, Ahmet Gül, Huri Özdoğan","doi":"10.55563/clinexprheumatol/ko6rcf","DOIUrl":"https://doi.org/10.55563/clinexprheumatol/ko6rcf","url":null,"abstract":"","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":"44 10","pages":"2193-2230"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149295143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on: Clinicopathological characteristics of severe aortic valve regurgitation caused by Behçet's syndrome.","authors":"Hilal Çağlar, Serdar Hira, Sabri Onur Çağlar","doi":"10.55563/clinexprheumatol/v7b6s8","DOIUrl":"10.55563/clinexprheumatol/v7b6s8","url":null,"abstract":"","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2173"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147354025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An unusual case of refractory Behçet's disease presenting with co-occurrence of thrombosis and thymoma.","authors":"Hajira Iftikhar Mirza, Faizan Ali Syed","doi":"10.55563/clinexprheumatol/atth8t","DOIUrl":"10.55563/clinexprheumatol/atth8t","url":null,"abstract":"","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2176"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the faecal miRNA profile in familial Mediterranean fever patients and the role of miR-21-5p in inflammatory pathways associated with FMF pathogenesis.","authors":"Ahlam Chaaban, Zeinab Skaineh, Razane Hammoud, Alain Chebly, Louna Karam, Eliana Eldawra, José-Noel Ibrahim","doi":"10.55563/clinexprheumatol/oj2iy9","DOIUrl":"https://doi.org/10.55563/clinexprheumatol/oj2iy9","url":null,"abstract":"<p><strong>Objectives: </strong>Beyond MEFV mutations, epigenetics seems to play an important role in the manifestation of familial Mediterranean fever (FMF). This study aimed to evaluate the differential expression of selected miRNAs in stool samples from FMF patients, and to investigate the functional role of miR-21-5p in FMF-related inflammatory pathways.</p><p><strong>Methods: </strong>Thirty-four FMF patients, 15 patients with Clostridioides difficile infection (CDI), and 25 healthy controls were enrolled in this study. The faecal levels of 27 miRNAs associated with inflammation, apoptosis, and autophagy were quantified by qRT-PCR. The functional role of miR-21-5p in regulating NF-ĸB and pyrin inflammasome pathways was investigated in LPS-stimulated THP-1 derived macrophages transfected with an anti-mir-21-5p inhibitor via western blot.</p><p><strong>Results: </strong>Among the 27 analysed miRNAs, eight were significantly upregulated in FMF patients compared with controls, with miR-21-5p, miR-30e-3p, and miR-148a-3p uniquely elevated in FMF. Downregulation of the anti-inflammatory miR-186-5p and miR-374b-5p was observed particularly in M694V homozygous patients, while let-7d-5p, and miR-148b-3p were associated with higher disease severity. Functional inhibition of miR-21-5p in LPS-stimulated THP-1-derived macrophages reduced NF-ĸB activation and decreased the expression of inflammasome-associated proteins except ASC, consistent with ASC-independent modulation of inflammasome signalling, potentially through direct caspase-1 activation.</p><p><strong>Conclusions: </strong>Our findings highlight the role of miRNAs in intestinal inflammation and their potential as diagnostic and prognostic biomarkers in FMF. Our functional data underscore the regulatory role of miR-21-5p in FMF-related inflammatory pathways and warrant further studies to elucidate its therapeutic potential, particularly in patients refractory to colchicine or as an adjunct to existing treatments.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":"44 10","pages":"2114-2123"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149295121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predominantly genital-limited phenotype of paediatric haploinsufficiency of A20.","authors":"Yuri Sonoda, Mayuka Shiraki, Motoshi Sonoda, Hidenori Ohnishi, Kenji Furuno","doi":"10.55563/clinexprheumatol/3jr8p6","DOIUrl":"https://doi.org/10.55563/clinexprheumatol/3jr8p6","url":null,"abstract":"","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":"44 10","pages":"2184-2185"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149295204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between serum transaminase elevations and clinical course in patients with familial Mediterranean fever.","authors":"Nihan Şentürk Öztaş, Rabia Deniz, Emin Oguz, Cigdem Cetin, Ezgi Sahin, Ceren Oyku Aydogan, Bahar Artim Esen, Murat Inanc, Lale Ocal, Ahmet Gül","doi":"10.55563/clinexprheumatol/4in59l","DOIUrl":"10.55563/clinexprheumatol/4in59l","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the clinical features, disease course, genetics, and treatment responses of familial Mediterranean fever (FMF) patients with elevated serum transaminase levels.</p><p><strong>Methods: </strong>The charts of the FMF patients with at least one year of follow-up were retrospectively investigated for the presence of elevated serum transaminase levels. The genetic and clinical findings and disease course of identified patients were compared with a group of FMF patients with no transaminase elevations.</p><p><strong>Results: </strong>A retrospective chart review included 780 registered patients diagnosed with FMF. Forty-two patients (5.3%) were excluded because of the insufficient follow-up duration, associated viral hepatitis, alcoholic hepatitis, and biopsy-proven liver amyloidosis. A total of 83 patients (11.2%) with elevated serum transaminase levels were identified, and their findings were compared with a control group of 655 patients with no transaminase elevation. FMF attacks began at a significantly older age (17.0±12.9 vs. 12.4±9.0 years, p=0.01), and the percentage of patients experiencing more frequent (≥ 3 attacks/month) attacks was higher (35.4% vs. 24.1%, p=0.01) in the elevated transaminase group. No significant differences were observed between the two groups regarding age at diagnosis, delay in diagnosis, presenting features of FMF, CRP levels at baseline and during attacks, frequency of amyloidosis, and the colchicine dose, as well as the frequency of patients requiring anti-IL-1 treatments. The frequency of MEFV gene exon 10 mutations and p.M694V homozygosity did not differ significantly between the groups. Hepatosteatosis was observed by abdominal ultrasonography in 46.7% of the patients with elevated liver enzymes. A follow-up study after 6 years revealed that transaminase levels remained elevated in 21 out of 49 patients (42.9%), and one patient developed liver cirrhosis.</p><p><strong>Conclusions: </strong>Elevated serum transaminase levels can be detected in approximately 11.2% of FMF patients, and this finding is not associated with colchicine use or manifestations of FMF. Ultrasonographic evidence of hepatosteatosis was observed in nearly half of the patients. Follow-up analysis showed that serum transaminase elevations may persist in 43% of the patients, which suggests further studies to determine whether this abnormality is a feature of FMF or not.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2101-2106"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of long-term organ damage and predictors of damage accrual in Behçet's syndrome: a 10-year longitudinal study using the Behçet's Syndrome Overall Damage Index.","authors":"Giulia Voltarel, Alba-Chiara Pozzi, Paolo Airò, Anita Melzani, Micol Frassi, Ilaria Cavazzana, Francesca Crisafulli","doi":"10.55563/clinexprheumatol/rk2h59","DOIUrl":"10.55563/clinexprheumatol/rk2h59","url":null,"abstract":"<p><strong>Objectives: </strong>To assess long-term organ damage and its accrual in a real-life cohort of Behçet's syndrome (BS) patients using the Behçet's Syndrome Overall Damage Index (BODI), identifying predictors of damage at diagnosis and factors associated with its accrual during follow-up.</p><p><strong>Methods: </strong>This single-centre retrospective study included 155 BS patients followed for at least six months. Organ damage was assessed at diagnosis and at various timepoints. Damage was defined as a BODI score ≥1 and damage accrual as an increase (ΔBODI) ≥1 between timepoints. Multivariable logistic regressions were used to identify predictors of damage.</p><p><strong>Results: </strong>At diagnosis, 31.1% of patients already exhibited damage. This prevalence progressively increased to 53.8% at 10-year follow-up, with 39.7% of patients experiencing damage accrual. Pre-existing damage at diagnosis was a risk factor for faster accumulation of new damage. Multivariable analysis identified non-Italian origin and older age at diagnosis as independent predictors of damage at baseline. Notably, older age also remained a significant predictor of damage accrual during the 10-year follow-up. Furthermore, the accumulation of new damage during the disease course was associated with more frequent corticosteroid treatment.</p><p><strong>Conclusions: </strong>Organ damage in BS is associated with different factors depending on the disease stage: while demographic features, particularly non-Italian origin and older age, significantly predict the presence of damage at diagnosis, older age and corticosteroid therapy are associated with damage accrual in the long-term. These findings highlight the importance of age-targeted clinical monitoring and of steroid-sparing strategies and early intervention in high-risk demographic groups to mitigate irreversible disability.</p>","PeriodicalId":10274,"journal":{"name":"Clinical and experimental rheumatology","volume":" ","pages":"2070-2077"},"PeriodicalIF":3.2,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}