Rheumatology International最新文献

Inflammatory arthritis can result in pain, stiffness, fatigue, and reduce quality of life. Frequent monitoring of disease activity is necessary for patients with inflammatory arthritis, and electronic patient-reported outcomes (ePROs) play a crucial role in this process. This study aimed to investigate the real experience of reporting ePROs in patients with inflammatory arthritis, as well as to identify factors influencing participation. The ultimate goal was to inform targeted strategies and develop interventions to enhance the utilization of ePROs in clinical settings. A scoping review was performed using PubMed, Web of science, Embase, and the Cochrane library from 2000 to the present and the literature search focused on the experience of reporting ePROs in inflammatory arthritis and the factors that influence participation. Screening articles based on inclusion and exclusion criteria. A total of 1478 studies were identified, out of which 26 were included in the review. The top experience of applications/platforms in patients was that they were easy to use and that the applications were clear, logical and intuitive. A summary of 18 potential influencing factors were identified and there was inconsistent evidence for five of these factors. The participation of reporting ePROs is influenced by various factors, and the experience is a crucial aspect in patients with inflammatory arthritis. Analyzing patients' experience and influencing factors provides a theoretical basis for future interventions to facilitate the clinical application of ePRO. However, further research is needed to fully understand the association between influencing factors and intervention outcomes.

Objectives: Sleep disturbance has been associated with chronic widespread pain (CWP), but their causal relationship remains unclear. We aimed to examine the causal relationship and direction between CWP and sleep traits, namely insomnia, sleep duration and chronotype, using Mendelian Randomization.

Method: We used genetic association data from ~0.5 million individuals and up to 1.8 million controls from the UK Biobank (UKB). All traits were defined predominantly by self-report. Short sleep duration was defined as average ≤6 hours per 24 hours. Chronotype refers to the inclination to sleep at certain times where some wake and go to bed early ('morning' person), and others wake and go to sleep later ('evening' person). To permit use of the largest available genetic association data, we used the Causal Analysis Using Summary Effect estimates (CAUSE) method, which allows for sample overlap.

Results: Insomnia (OR 1.009, 95% credible interval 1.005, 1.014; p = 0.018 that the causal model is a better fit than non-causal model) and short sleep duration (OR 1.060, 95%CrI 1.038, 1.083; p = 0.040) were causally associated with increased risk of CWP, with limited evidence for reverse causation. There was no evidence in support of long sleep duration or chronotype being associated with CWP.

Conclusions: This study suggest that insomnia and short sleep duration (≤6 hours) are associated with an increased risk of CWP. Improving short sleep duration and insomnia, rather than chronotype, may be effective in reducing the risk of CWP, although these results should be replicated in epidemiological and interventional studies.

The interplay between Psoriatic arthritis and Gout is a current diagnostic challenge faced by many physicians and researchers. We aimed at reviewing the coexistence of gout and its features such as hyperuricemia and deposition of monosodium urate crystals in patients with psoriatic arthritis (PsA). We also focused on a brief presentation of the pathophysiology underneath the interplay between PsA and gout, and ultimately on recommendation of approaches for the differential diagnosis. The literature search for this narrative review was conducted using PubMed and Medline and after retrieving and screening the references, articles were selected according to the inclusion and exclusion criteria. Part of the assessed studies reported the coexistence of PsA and gout (Psout) and its association with several clinical outcomes among affected patients. Other studies stressed incidences of misdiagnosis of gout with PsA and vice versa. Additionally, the presence of hyperuricemia in PsA patients could interfere with the patient's characteristics and outcomes of their treatment. Further research on the assessment and clinical course of Psout is required to develop an official protocol for its diagnosis and treatment.

Long-COVID are often accompanied by the development of autoimmun disorders. Such dysregulation of the immune system can be caused by reactivation of "sluggish" herpesvirus infection in patients after COVID-19. The one of the possible causes of autoimmunization is a change in the cytotoxic functions of NK cells under the influence of HHV6. The aim of research was to study the expression of receptor-ligand Fas-FasL, regulating marker CD38 and inhibitory receptor TIM-3 on NK cells in patients with long-COVID after mild, moderate, and severe stage of COVID-19 in the anamnesis with or without reactivation of HHV-6 and to identify risk factors for the formation of autoimmune disorders in these patients. This study investigated 124 adults (73 female and 51 male) aged 18 to 65 years with long-COVID. The groups of patients with long-COVID were divided depending on mild, moderate, and severe forms of COVID-19 in the anamnesis and with/without reactivation of HHV-6. The control group included 20 healthy participants. Molecular genetic studies (PCR) were performed for all patients to detect the existence of DNA HHV6. Multiparametric flow cytometry was performed on 124 EDTA peripheral blood samples collected from long-COVID patients and 20 healthy controls. There was defined an imbalance between acute antiviral mechanisms, the response contributing to tissue damage and immunopathology, probably autoimmunity in patients with long-COVID after different forms of COVID-19 with reactivation of HHV-6. The presence of HHV-6 in groups with long-COVID was accompanied by higher expression of FasL and CD38, especially in patients, who had a severe form of COVID-19 in the anamnesis. The decrease in TIM-3 in patients with reactivation of HHV-6 compared to patients without HHV-6 puts the preservation of immunological tolerance at risk of Th1-dependent immune responses. The reactivation of HHV-6 is accompanied by higher expression of FasL and CD38, which indicates increased hyperactivation of NK cells, their cytotoxic activity, and subsequent exhaustion. NK cells of these patients lose their immunoregulatory ability, this creates prerequisites for the development of immunopathology, probably autoimmune processes.

Séraphin (1747-1800) is considered the founder of shadow puppetry in France. This "facetious hunchback", well known to Parisians in the late 18th century, ran his own theater until his death in 1800 at the age of 53. His deformity seems to have left its mark on popular memory, and was an integral part of the "Théâtre Séraphin". Part of his skeleton was preserved in the Dupuytren Museum in Paris. In 1897, it was described as a "particular kind of ankylosis, probably different from ordinary kyphosis". Then, in 1899, Dr. André Léri, a pupil of Pierre Marie, hypothesized from skeletal analysis that Séraphin must have suffered from rhizomelic spondylosis (the first french name for ankylosing spondylitis). In this article, we present the recent analysis of his skeleton, restored at the Dupuytren Museum, as well as old documents, a graphic representation and texts that allow us to make the diagnosis of ankylosing spondylitis. These documents show how this deforming disease contributed to the success of Seraphin's theatre.

Patients with familial mediterranean fever (FMF) often present with musculoskeletal involvement typical of spondyloarthropathy (SpA) or ankylosing spondylitis (AS), posing a diagnostic challenge for medical practitioners and leading to the description of the FMF-related SpA/AS clinical spectrum. Currently, the available data focuses on SpA diagnosis in patients with known FMF, while the contrary is rarely reported in the medical literature. We describe an unusual case of concomitant FMF diagnosis in a patient with an eight-year long history of typical, human leukocyte antigen-B27 positive AS on adalimumab treatment, who presented with recurrent febrile attacks and abdominal pain. The laboratory work-up revealed high titres of serum amyloid A while genetic testing was positive for the pathogenic M694V heterozygous variant in the MEFV gene. The patient was promptly treated with colchicine, showing complete remission of clinical symptoms and normalisation of inflammatory markers to date. We also performed a review of the available literature elaborating on the interrelationship of AS and FMF in terms of pathogenesis and clinical characteristics. Our case highlights the need for reporting of similar cases and further explores the association of AS and FMF as distinct clinical entities or as constituents of the same disease continuum model.

Background: Currently, there are no reliable biomarkers for predicting treatment response in chronic inflammatory diseases (CIDs).

Objective: To determine whether serum microfibrillar-associated protein 4 (MFAP4) levels can predict the treatment response to biological therapy in patients with CIDs.

Methods: The BELIEVE study was originally designed as a prospective, multi-center cohort study of 233 patients with either rheumatoid arthritis, psoriatic arthritis, psoriasis, axial spondyloarthritis, Crohn's disease, or ulcerative colitis, initiating treatment with a biologic agent (or switching to another). Clinical assessment and blood sample collection were performed at baseline and 14-16 weeks after treatment initiation. The primary analyses included participants with available blood samples at baseline; missing data were handled as non-responders. The patients were stratified into the upper tertile of serum MFAP4 (High MFAP4) versus a combined category of middle and lower tertiles (Other MFAP4). The primary outcome was the proportion of patients with clinical response to biologic therapy after 14-16 weeks.

Results: 211 patients were included in the primary analysis population. The mean age was 43.7 (SD: 14.8) years, and 120 (59%) were female. Positive treatment response was observed in 41 (59%) and 69 (49%) for High MFAP4 and Other MFAP4, respectively. When adjusting for pre-specified variables (CID, age, sex, smoking status, and BMI), the adjusted OR was 2.28 (95% CI: 1.07 to 4.85) for a positive treatment outcome in the High MFAP4 group.

Conclusion: A high MFAP4 status before initiating biological treatment is associated with a positive clinical response, when adjusting for confounding factors.

Background: Inflammatory skin diseases (ISDs), are characterized by dysregulated activation of innate and adaptive immune systems, with inflammatory cytokines playing a crucial role in their pathogenesis.

Objectives: This study aimed to investigate the involvement of Janus kinase/signal transduction and activator of transcription (JAK/STAT) signaling pathway in the pathogenesis of ISDs.

Methods: The study analyzed a total of 117 skin biopsies, comprising 31 from pyoderma gangrenosum (PG), 25 from hidradenitis suppurativa (HS), 35 from psoriasis patients, and 26 from control subjects. To assess the expression levels of JAK/STAT pathway components, immunohistochemical staining was performed on both the dermal and epidermal layers of the skin. The Histo score (H score) was utilized as the immunoexpression score to evaluate the staining intensity.

Results: The results indicated that all components of the JAK/STAT signaling pathway, except JAK2 and STAT6 in PG, JAK1, STAT4, and STAT6 in HS, and JAK1 in psoriasis, were overexpressed in the dermal skin compared to the control group (p < 0.05). Psoriatic skin had higher expression of STAT6 than both PG and HS and higher expression of JAK2 than PG (p < 0.05). Additionally, HS biopsies had higher expression of JAK2 and STAT6 compared to PG (p < 0.05). JAK1 expression was higher in PG than in HS, psoriasis, and the control group (mean H score was 265.8, 184.8, 191.4, and 113.1, p < 0.05, respectively).

Conclusions: This study provides new insights into the potential contribution of the JAK/STAT pathway to the pathogenesis of ISDs. The findings suggest that targeting this pathway could be a promising therapeutic strategy for treating these disorders.

Systemic sclerosis (SSc) poses significant challenges in clinical management, especially when complicated by scleroderma renal crisis (SRC), a rare but life-threatening manifestation. Here, we report a 41-year-old female patient with SSc who presented with SRC and concurrent thrombotic microangiopathy. Her condition persisted despite conventional treatments such as plasma exchange and renin-angiotensin-aldosterone system blockade. In particular, treatment with eculizumab, a C5 complement inhibitor, led to a rapid improvement in platelet count, reduction in lactate dehydrogenase levels, and complete recovery of renal function. Genetic testing revealed a variant of unknown significance in the thrombomodulin (THBD) gene, which is associated with the complement system. This case highlights the complex interplay between complement dysregulation and SRC, and highlights the promising role of eculizumab in refractory cases. Further investigation of complement involvement and the efficacy of eculizumab in SRC warrants attention to improving therapeutic outcomes in this challenging condition.