Reumatologia Clinica最新文献

Background

This study investigates the association between inflammatory myopathies (IM), and their correlation with cancer. There are several potential causes behind the association of cancer and inflammatory myopathies. The positivity of specific antibodies for myositis plays a significant role. Our objective is to describe cancer and inflammatory myopathies in Colombia, focusing on demographics, clinical characteristics, and laboratory data.

Methods

We retrospectively analyzed 112 IM patients diagnosed at Fundación Valle del Lili in Cali, Colombia, the cases met the EULAR/ACR criteria. Data included demographics, clinical signs, laboratory findings, and malignancy. Malignancy associations were explored using logistic regression. The survival analysis was assessed using Kaplan–Meier curves and the Log-Rank test.

Results

Dermatomyositis was the most common subtype (45.5%), with a female predominance (66.1%). Cancer diagnosis occurred in 11.6% of cases, predominantly thyroid cancer. The median time from myopathy onset to cancer diagnosis was 11 months, with 75% of cases within the first year. Bivariate analysis indicated associations between cancer and age, Gottron's papules, digital ulcers, and heliotrope rash. However, multivariate analysis identified age as the only significant malignancy risk factor. Survival analysis showed better rates in younger patients.

Conclusion

This study provides into the link between IM and cancer in the Colombian population. Thyroid cancer predominated, with a slightly higher proportion of female cancer diagnoses. Age emerged as a significant risk factor for malignancy. Understanding this association is crucial for early detection and improving patient outcomes related to IM-associated malignancies.

An inadequate biomarker validation can affect many patients’ diagnosis, treatment, and follow-up. Therefore, special interest should be placed on performing these analyses correctly so that biomarkers can be applicable to patients and evidence of their clinical usefulness can be generated. A methodological work on the concept of biomarkers is presented, as well as the difficulties associated with the methodological approach to their development, validation, and implementation in clinical practice.

Introduction

Biological disease-modifying antirheumatic drugs (bDMARD) have improved the clinical course and quality of life of patients with rheumatoid arthritis (RA). However, some patients failed to respond or have an insufficient response to bDMARD early in the course of the treatment.

Objectives

To determine the percentage of RA patients who need to switch due to ineffectiveness in the first year of treatment and to identify specific baseline features as possible predictors of switch due to ineffectiveness in the first year of treatment.

Materials and methods

An observational retrospective study was conducted with patients with RA that started their first bDMARD. Demographic data, disease characteristics, disease activity data scores, laboratory parameters and treatment at baseline were collected. The proportion of patients who failed to respond and who switched to another bDMARD in the first year of treatment was calculated.

Results

A total of 437 (364 females, 83.3%) patients with RA were included. The majority of these patients started an anti-TNF-α agent (n = 315, 72.1%). Forty-eight (11.0%) patients failed to respond to the bDMARD in the first year of treatment. There were significantly more current or former smokers (p = 0.030), with a history of depression (p = 0.003) and positive for RF at baseline (p = 0.014) in the switch group.

In the multivariate analysis, anti-TNF-α agents use (OR 8.3, 95% CI 2.4–28.8, p = 0.001), tobacco exposure (OR 2.3, 95% CI 1.1–4.8, p = 0.02) and history of depression (OR 3.1, 95% CI 1.3–7.7) seem to predict the need to switch in the first year of treatment due to ineffectiveness.

Discussion and conclusion

In our study, tobacco exposure and depression appear to be modifiable risk factors associated with early switching due to ineffectiveness. Addressing these factors in daily clinical practice is crucial to enhance the overall response to therapy and improve the well-being of patients.

Objectives

Osteoarthritis (OA) is a complex multifactorial disease. The association of knee OA risk with ACE gene rs4343 polymorphism, gene environment synergistic effect, and angiotensin II serum level has not been previously examined. Therefore, we investigate the ACE gene rs4343 polymorphism in knee OA, and its association with severity of knee OA, and angiotensin II serum level.

Methods

Using a case–control design, we recruited 200 subjects (100 cases and 100 controls) and all were subjected to genotyping of rs4343 SNP by real-time polymerase chain reaction and assay of serum angiotensin II level by ELISA.

Results

G containing genotypes (AG and GG) and G allele frequencies of the ACE rs4343 polymorphism were significantly higher in the case group than that in the control group. There was significant association between ACE rs4343 genotypes and risk of knee OA under the following genetic inheritance models: GG vs. AA (P = 0.003), AA vs. GG/AG (P = 0.014), AG/AA vs. GG (P = 0.037), and G vs. A (P < 0.001). Stratified analyses showed ACE rs4343 polymorphism was evidently associated with a significantly increased risk of knee OA among those had BMI ≥ 25% (adjusted OR = 3.016; 95% CI 1.052–8.648; P = 0.040). Additionally, knee OA patients with GG genotype had greater knee specific WOMAC index, Kellgren score, and serum angiotensin II level than those with AA or GA genotypes.

Conclusion

The investigated polymorphism in the ACE gene rs4343 may reflect the risk and severity of knee OA in the Egyptian population, particularly with the GG genotype. The interaction between ACE gene rs4343 polymorphism and obesity further increased the risk of knee OA. Moreover, the higher angiotensin II level may be involved in the pathogenesis of knee OA.

The Spanish Society of Rheumatology (SER) brings together the majority of rheumatology specialists in Spain. One of the many services it offers its members is a Research Unit (RU-SER) that provides methodological support to SER members in clinical and epidemiological research, coordinates and carries out research projects, designs and maintains large patient databases, develops qualitative research projects and produces evidence-based medicine (EBM) documents. Through the latter activity, the RU-SER produces clinical practice guidelines and recommendations on topics relevant to rheumatology that meet the highest methodological standards. The aim of this article is to describe the management process and methodology used by the RU-SER to identify topics for EBM documents and how they are developed.

Objectives

The aim of this study is to examine how gene mutation diversity and disease severity affect physical capacity and quality of life in children/adolescents with Familial Mediterranean Fever (FMF).

Methods

Eighty children/adolescents (42 female, 38 male) diagnosed with FMF according to Tell-Hashomer diagnostic criteria were included in this study. Disease severity score (PRAS), running speed and agility and strength subtests of Bruininks-Oseretsky Test of Motor Proficiency Second Edition Short Form (BOT-2 SF), Physical Activity Questionnaire, Pediatric Quality of Life Inventory 3.0 Arthritis Module (PedsQL) was used for evaluation. Participants were divided into 2 groups as M694V and other mutations according to MEFV gene mutation and were divided into 3 groups as mild, moderate and severe according to PRAS.

Results

When the data were compared between groups; in terms of gene mutation, a significant difference was observed in treatment subtest of PedsQL-parent form in favor of the M694V gene mutation group (p < 0.05). In terms of PRAS, significant difference was seen in the pain, treatment subtests and total score of the PedsQL-child form, and in the pain, treatment, worry subtests and total score of the PedsQL-parent form in favor of the mild group (p < 0.05).

Conclusions

MEFV gene mutations in children and adolescents with FMF did not differ on physical capacity and quality of life. PRAS was not effective on physical parameters, but quality of life decreased as the severity score increased. Encouraging children/adolescents with FMF to participate in physical activity and to support them psychosocially can be important to improve their quality of life.

Objective

To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI).

Methods

Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity.

Results

We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis.

Conclusion

Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients.

Aim

To describe the impact of the COVID-19 on the psychosocial health of patients with rheumatoid arthritis (RA), spondyloarthritis (SpA), and systemic lupus erythematosus (SLE).

Design

Longitudinal observational study of a series of patients with rheumatic disease.

Methods

The main outcome measure was impairment of the ability to participate in social activities, as measured using the PROMIS-APS instrument Short Form-8a. We evaluated social activities in various settings and performed a multivariate analysis to study the association between worsening of social participation during the COVID-19 pandemic and implicated factors.

Results

One hundred and twenty-five patients had completed the prospective follow-up: 40 with AR (32%), 42 with SpA (33.6%), and 43 with SLE (34.4%). Overall, poorer mean PROMIS scores were recorded after the COVID-19 pandemic for: satisfaction with social roles (p = 0.029), depression (p = 0.039), and ability to participate in social activities (p = 0.024). The factors associated with ability to participate in social activities after the COVID-19 pandemic were older age (β = −0.215; p = 0.012), diagnosis of SLE (β = −0.203; p = 0.015), depression (β = −0.295; p = 0.003) and satisfaction with social roles (β = 0.211; p = 0.037).

Conclusion

The ability to participate in social activities after the COVID-19 pandemic is affected in patients with rheumatic disease, especially in SLE.

Background

Hydroxychloroquine (HCQ) is the first-line treatment for systemic lupus erythematosus (SLE); however, there is heterogeneity in its clinical use. This consensus aims to bridge the gap in SLE treatment by providing practical and valuable recommendations for health professionals.

Methods

The methodology used is based on a systematic literature review and a nominal group technique (NGT). A ten-member scientific committee formulated eight clinically relevant questions. First, a systematic review was conducted to identify the available evidence, which the scientific committee evaluated to developed recommendations based on their expertise, achieving consensus through NGT.

Results

1673 titles and abstracts were screened, and 43 studies were included for meeting the inclusion criteria. The scientific committee established 11 recommendations for HCQ use in initiation, maintenance, and monitoring, considering benefits and potential adverse effects of HCQ. Unanimous agreement was achieved on all recommendations.

Conclusions

The available evidence supports HCQ's effectiveness and safety for SLE. Individualized assessment of the initial HCQ dose is important, especially in situations requiring dose reduction or discontinuation. This risk–benefit assessment, specifically focusing on the balance between retinal toxicity and the risk of SLE relapse, should guide decisions regarding medication withdrawal, considering disease activity, risk factors, and HCQ potential benefits. Close monitoring is essential for optimal disease management and minimize potential risks, such as QT prolongation or retinal toxicity.

Objectives

A subset of gout patients developed persistent joint pain after flares. Analysis of this clinical phenomenon may shed further light on the factors related to worsening gout and even provide clues to its pathogenesis.

Methods

We analyzed the clinical, laboratory, and ultrasound data of gout patients to explore the associations of these data with persistent joint pain after gout flares.

Results

A total of 1029 gout patients were included: 182 (17.7%) patients with persistent joint pain and 847 (82.3%) patients with nonpersistent joint pain. Patients with persistent joint pain had more total involved joints, more gout flares in the past year, and more joints with simultaneous gout flares (P < 0.01). Among the ultrasound-detected lesions, patients with persistent joint pain had a higher incidence of tophus (36.4% vs. 21.1%) and bone erosion (18.6% vs. 8.6%) (P < 0.05). Higher UA and lower TBil were found in patients with persistent joint pain (P < 0.001). Hypertension (54.9% vs. 38.7%) and metabolic syndrome (58.8% vs. 46.4%) were both more frequent in patients with persistent joint pain (P < 0.05). TBil was negatively correlated with the incidence of persistent joint pain (P < 0.001, r = −0.190), UA values (P < 0.001, r = −0.125), and metabolic syndrome scores (P < 0.001, r = −0.192). A correlation curve was fitted using LOESS (locally weighted region).

Conclusion

Persistent joint pain after gout flares is a marker of increased disease burden in gout. The significance of the level of total bilirubin for the exacerbation of gout deserves further study.