Reumatologia最新文献

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.

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 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.

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.

Introduction: Osteoarthritis (OA) presents significant challenges, imposing limitations on patients' daily activities. Factors such as restricted mobility, sedentary lifestyles, social isolation, and weight gain can exacerbate the difficulties faced by these individuals. Our study aimed to identify the needs and personal challenges faced by individuals with OA, and the impact of the COVID-19 pandemic.

Material and methods: The research included a quantitative survey and a workshop involving a Scientific Leader Team. The quantitative survey was conducted among 400 patients in Bulgaria, Romania, Serbia, and Kazakhstan. All enrolled participants had experienced chronic musculoskeletal pain due to OA for at least three years and had received treatment with topical or oral medications. The cross-country workshop, conducted via Zoom, brought together prominent rheumatologists to discuss the survey results and explore patient support opportunities with healthcare providers.

Results: Over 60% of respondents reported that poor locomotor function adversely affected their daily activities. More than 50% stated that they had delayed treatment due to concerns about potential side effects, while over half expressed a desire for rapid pain relief. Approximately 30% of patients reported an increase in musculoskeletal complaints following the onset of the COVID-19 pandemic. The proportion of online consultations rose significantly, increasing from 5% before the pandemic to 12% during it, before stabilizing at 9% in the post-pandemic period.

Conclusions: Patients with OA face considerable limitations in their daily lives, with a strong preference for immediate pain relief. Concerns about side effects lead many to postpone treatment. Over-the-counter anti-inflammatory creams and prescription oral anti-inflammatory drugs are the most used therapies. The pandemic negatively affected OA symptoms. Furthermore, the use of online channels for OA patient care increased during the COVID-19 pandemic.

The presence of chronic liver diseases such as metabolic dysfunction-associated steatosis liver disease, viral hepatitis, and cirrhosis may affect the treatment plan in patients with rheumatologic disorders, with concern about the adverse effects of the rheumatic medications on the course of liver disease. Advanced liver disease can change the elimination and activation of many drugs. In addition, there are concerns about the risk of viral reactivation after using biologics and immunosuppressants in patients with chronic viral hepatitis. This narrative review will assess the considerations that should be made before starting the most frequently used drugs in all common rheumatic diseases and patients with chronic liver diseases including chronic viral hepatitis.

Introduction: The aim of the study was to investigate the associations between the presence and level of rheumatoid factor (RF) in the blood serum and the clinical and laboratory characteristics of patients with systemic lupus erythematosus (SLE).

Material and methods: This retrospective tricentric cross-sectional study analyzed a Ukrainian contingent of SLE patients. Medical records of 495 patients were evaluated. Rheumatoid factor serum concentration was tested in 206 of them (41.6%) using turbidimetry technique. Clinical manifestations, routine laboratory parameters, specific immunological tests, disease activity (SLEDAI-2K), and damage indices (SLICC/ACR DI) were evaluated.

Results: Our study revealed that RF was elevated in 27.7% of patients. The RF-positive patients experienced a longer delay in SLE diagnosis (2.0 vs. 0.5 years, p = 0.046), less frequent kidney involvement (42.1% vs. 59.4%, p = 0.045) and fever (42.1% vs. 59.2%, p = 0.046), and more frequent lymphadenopathy (59.6% vs. 42.3%, p = 0.039) compared to RF-negative patients. Patients with RF positivity had higher levels of C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and antinuclear antibody (ANA) titer, and were more frequently positive for antibodies to Ro/SSA and La/SSB. Rheumatoid factor concentration directly correlated with CRP (r = 0.318; p < 0.01) and ESR (r = 0.228; p = 0.04) levels. However, no associations were found between RF levels and SLEDAI-2K, joint involvement frequency, SLICC/ACR DI or drug therapy content. Univariate logistic regression analysis showed that RF positivity was independently associated with lymphadenopathy, presence of anti-Ro/SSA and anti-La/SSB antibodies, and negatively associated with kidney involvement.

Conclusions: In RF-seropositive SLE patients (approximately 28%), the diagnosis is established later compared to RF-seronegative ones; kidney involvement and fever are less common, while lymphadenopathy develops more frequently. Rheumatoid factor seropositivity is associated with higher levels of ESR, CRP, ANA, and the presence of antibodies to Ro/SSA and La/SSB. According to the results of univariate logistic regression analysis, an independent association with RF positivity was confirmed only for kidney involvement, lymphadenopathy, and antibodies to Ro/SSA and La/SSB.