Reumatologia最新文献

Introduction: The importance of the kynurenine pathway in normal immune system function has led to an appreciation of its possible contribution to autoimmune disorders such as rheumatoid arthritis (RA). The aim of the study was to evaluate the effect of treatment with tumor necrosis factor α (TNF-α) inhibitors on the activity of the kynurenine pathway in patients with RA.

Material and methods: This was an investigator-initiated, prospective, observational study. The study was performed on 30 RA patients (Caucasian, 11 male, 19 female; mean age 45 ±16 years) treated with TNF-α inhibitors. All patients were assessed before and after 6 months of therapy. As a control group, age- and sex-matched, 20 healthy volunteers were recruited. Disease activity was evaluated by the Modified Disease Activity Score with 28-joint count (DAS28). Inflammatory markers were assessed routinely by the hospital central laboratory. Serum concentrations of kynurenine, serotonin and tryptophan were measured with specific immunoassays. To estimate indoleamine 2,3-dioxygenase (IDO) activity, kynurenine-to-tryptophan ratio was calculated.

Results: The results of our study showed changes in tryptophan metabolism in RA patients, compared with healthy controls. Surprisingly, RA patients had statistically significant decreased kynurenine-to-tryptophan ratio (p = 0.003), which could indicate diminished IDO activation in RA. Moreover, we found no significant changes in kynurenine-to-tryptophan ratio after treated with TNF-α inhibitors (p = 0.490), despite disease remission. Additionally, tryptophan metabolism activity did not correlate with objective markers of inflammation.

Conclusions: The RA patients had altered tryptophan metabolism, compared with healthy controls. The mechanisms affecting tryptophan metabolism in RA may be complex. We believe that continuing elucidation of pathophysiological pathways relevant in RA offer substantial hope for the development of specific pharmacotherapy for treatment of RA - especially for comorbidity of RA and depression.

Introduction: Antiphospholipid syndrome (APS) manifests with thrombosis and pregnancy losses and may significantly impair the health-related quality of life (HRQoL). So far, APS has been perceived as a less burdensome disease than systemic lupus erythematosus (SLE), but data on this are scarce. The purpose of the present study was to evaluate HRQoL in APS patients by applying the Short Form 36 Health Survey (SF-36) and World Health Organization Quality-of-Life Scale (WHOQoL-BREF); to examine the impact of primary APS and with coexisting SLE (APS/SLE) on patient HRQoL; and to provide a description of the APS patient population.

Material and methods: One hundred twelve patients with APS were included in the study, 57 of them with primary APS and 55 with coexisting SLE. HRQoL was measured by the 36-Item SF-36 and WHOQoL questionnaires.

Results: Mean age was 47 years (47.6 ±13.8), and 96 patients were (85.7%) women. The mean disease duration was 72 months. Health-related quality of life impairment was found in both components for all APS patients in comparison to the healthy Polish population (p < 0.0001). There was no difference between APS and APS/SLE groups in HRQoL (mental component p = 1.0, physical component p = 0.337). The history of venous thrombosis was associated with HRQoL impairment only in the APS/SLE group in the physical component (p = 0.0118), not in primary APS (p = 0.6862). The mental component of SF-36 was associated with all domains of WHOQoL-BREF, while the physical component was associated only with physical health (p < 0.001).

Conclusions: Primary APS and APS secondary to SLE lead to equal impairment in HRQoL. Diagnosis and proper management of all patients with APS are essential to prevent thrombosis and miscarriages, which ultimately will lead to longer survival with optimal life quality.

Introduction: Lost to follow-up (LTFU) rheumatoid arthritis (RA) patients constitute a population that potentially experiences worsening of their disease. This study aimed to determine the frequency of LTFU and the possible associated factors in newly diagnosed RA patients in our outpatient clinic.

Material and methods: A retrospective cohort study was conducted using 260 newly diagnosed RA patients. Those who did not attend their scheduled appointment for more than 3 months were defined as LTFU. We used a Likert scale questionnaire to explore the perception and the possible reasons for LTFU by phone. Bivariate and multivariate logistic regression analyses were performed to explore the factors associated with LTFU.

Results: There were 65 patients (25%) who were LTFU. We contacted 34 of them and selected 34 age-matched routinely followed-up (RFU) patients as controls. The reasons for LTFU were distance from house to hospital constraints (76%), busy (56%), transportation constraints (38%), dissatisfaction with the outpatient clinic service (21%), lack of information about their disease (18%), having other comorbidities that compelled them to go to another department's clinic (15%), difficulties understanding the clinic registration flow system (9%), and having minimal symptoms (6%). Using the χ² test, we found that transportation constraints and busyness were significantly different between LTFU and routinely followed up patients (p-value 0.008 and 0.200, respectively). After multivariate analysis, transportation constraints remained a significant factor (OR = 6.397; 05% CI: 1.622-25.228).

Conclusions: Among newly diagnosed RA patients, 65 (25%) were LTFU. Transportation constraints and busyness were factors associated with LTFU. Further multivariate analysis showed that the factor transportation constraints was significantly associated with LTFU of RA patients in this study.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by high heterogeneity of clinical manifestations and an uncertain prognosis. Although the mortality rate due to SLE has decreased significantly in recent decades, there is still a need to find good tools to measure disease activity for early detection of exacerbations and treatment planning. Over the decades, more than a dozen disease activity scales/indicators have been developed, with the SLE Disease Activity Index (SLEDAI) being the most popular. More recently, the new SLE Disease Activity Score (SLE-DAS) has been introduced. This paper compares the two methods of assessing SLE activity, and presents the relevance of these scales in pregnant SLE patients and their use in formulating definitions of remission and low disease activity. The results show that the SLEDAI and the SLE-DAS are of comparable value in assessing SLE activity and complement each other.

Axial radiographic spondyloarthritis (r-axSpA) is a chronic inflammatory joint disease that leads to a considerable decline in the quality of life of patients by impairment of function and mobility, which, in turn, brings about a deterioration of both physical and mental health. Osteoporosis (OP) is a significant issue in the course of r-axSpA. Fractures resulting from OP complicate the treatment of the underlying disease and reduce the quality of life of patients. The aim of this paper is to discuss currently available diagnostic methods for OP and highlight why the gold standard for diagnosis - the assessment of bone mineral density via dual-energy X-ray absorptiometry - is not sufficient for patients with r-axSpA.

Autoinflammatory bone disorders (ABDs) are characterized by sterile bone inflammation stemming from dysregulated innate immune responses. This review focuses on the occurrence of sterile osteomyelitis in ABDs and related diseases, notably chronic nonbacterial osteomyelitis (CNO) and its sporadic and monogenic forms, such as deficiency of the interleukin-1 (IL-1) receptor antagonist, Majeed syndrome, CNO related to FBLIM1 mutation, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome). Additionally, other autoinflammatory disorders (AIDs) are discussed, including classical periodic fever syndromes (e.g., familial Mediterranean fever, cryopyrin-associated periodic syndromes), monogenic rare AIDs (such as hyperostosis-hyperphosphatemia syndrome, H syndrome, interferonopathies, and Singleton-Merten's syndrome), polygenic AIDs with bone involvement (e.g., Schnitzler's syndrome, systemic juvenile idiopathic arthritis, adult-onset Still's disease, and calcium pyrophosphate deposition disease), and bone dysplastic syndromes. Sterile osteomyelitis emerges as a cardinal sign of autoinflammation, aiding clinicians in both diagnosis and management of ABDs. Treatment typically involves tumor necrosis factor inhibitors or IL-1 antagonists.

Introduction: The aim of this study was to examine the relationship between the functional status of the extremities and "core" stabilization in women with fibromyalgia (FM).

Material and methods: Fifty-seven women with FM were included. The Widespread Pain Index (WPI), Visual Analogue Scale-Pain (VAS-Pain), Symptom Severity Scale (SSS), Fibromyalgia Impact Questionnaire (FIQ), McGill Static endurance tests (trunk flexors endurance, trunk extensors endurance, lateral bridge tests), Disabilities of the Arm, Shoulder and Hand Questionnaire (DASH), grip strength, Lower Extremity Functional Scale (LEFS), chair-stand test, pressure pain threshold and 6-minute walk test (6MWT) were used in evaluation.

Results: The trunk flexors endurance test showed a weak correlation with 6MWT (r = 0.392), DASH (r = -0.347), LEFS (r = 0.328) and WPI (r = -0.289). The trunk extensors endurance test showed a weak correlation with grip strength-right (r = 0.285), DASH (r = -0.301) and LEFS (r = 0.321) and a moderate correlation with grip strength-left (r = 0.407), chair-stand test (r = 0.470) and 6MWT (r = 0.524). The right lateral bridge test showed a weak correlation with grip strength-right (r = 0.271), DASH (r = -0.379), LEFS (r = 0.254), WPI (r = -0.306), average of maximal values of pressure pain threshold (r = 0.316) and average of mean values of pressure pain threshold (r = 0.337); it showed a moderate correlation with grip strength-left (r = 0.418) and 6MWT (r = 0.414). The left lateral bridge test showed a weak correlation with grip strength-right (r = 0.279), chair-stand test (r = 0.276), 6MWT (r = 0.359), DASH (r = -0.294), average of maximal values of pressure pain threshold (r = 0.315) and average of mean values of pressure pain threshold (r = 0.370); it showed a moderate correlation with grip strength-left (r = 0.502) (p < 0.05).

Conslusions: Core muscle endurance is associated with upper and lower extremity functional level and pain parameters in women with FM.

Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found. One child was diagnosed with SRP54 deficiency, linked to congenital neutropenia with a cyclic pattern. Variants of uncertain significance were found in 6 patients in genes associated with autoinflammatory disorders, though two lacked clinical correlation. Variants of uncertain significance in the NLRC4 gene were detected in 2 patients with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome, in the PLSG2 gene in 1 child with systemic juvenile idiopathic arthritis, and in the MEFV gene in 1 patient with syndrome of uncertain recurrent fever. COVID-19 was identified as a triggering factor in 54.5% of cases. Further research is needed to clarify the role of genetic variants and environmental factors in recurrent fevers.

H syndrome (HS) is a rare autosomal recessive genodermatosis characterised by cutaneous hyperpigmentation, hypertrichosis, sclerodermatous thickening, and multisystemic involvement. It results from mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter 3, leading to impaired histiocyte apoptosis and unchecked proliferation. We report the case of a 24-year-old Moroccan male who had a history of insulin-dependent diabetes mellitus. He developed hyperpigmented skin patches with hypertrichosis and induration. Musculoskeletal findings included bilateral hallux valgus, pes planus, reducible flexion contractures of the proximal interphalangeal joints, and restricted ankle dorsiflexion. Additional findings consist of lymphadenopathy, hepatomegaly, hypogonadism, and ophthalmic manifestations. Investigations showed elevated sedimentation rate, anaemia, and osteopaenia. Ankle ultrasound revealed calcaneal enthesopathy and subcutaneous infiltration. In reporting this case, we aim to highlight the significant rheumatological involvement that can arise in patients with H syndrome and explore potential treatment options to improve the musculoskeletal findings.