Objective: Chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal‐onset multisystem inflammatory disease (NOMID), is a severe, early‐onset autoinflammatory disease characterized by an urticaria‐like rash, arthritis/arthropathy, variable neurologic involvement, and dysmorphic features, which usually respond to interleukin‐1 blockade. CINCA/NOMID has been associated with dominant Mendelian inherited NLRP3 mutations. However, conventional sequencing analyses detect true disease‐causing mutations in only ∼55–60% of patients, which suggests the presence of genetic heterogeneity. We undertook the current study to assess the presence of somatic, nongermline NLRP3 mutations in a sporadic case of CINCA/NOMID.Methods: Clinical data, laboratory results, and information on treatment outcomes were gathered through direct interviews. Exhaustive genetic studies, including Sanger method sequencing, subcloning, restriction fragment length polymorphism assay, and pyrosequencing, were performed.Results: The patient's CINCA/NOMID was diagnosed based on clinical features (early onset of the disease, urticaria‐like rash, knee arthropathy, and dysmorphic features). The patient has exhibited a successful response to anakinra within the last 28 months. Analysis of NLRP3 identified a novel heterozygous variant (p.D303H) that was detected in ∼30–38% of circulating leukocytes. The absence of this variant in healthy controls and in the patient's parents suggested a de novo true disease‐causing mutation. Additional analyses showed that this novel mutation was present in both leukocyte subpopulations and epithelial cells.Conclusion: Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new disease‐causing mutation, which was detected as a somatic, nongermline mutation in hematopoietic and nonhematopoietic cell lineages. Our data provide new insight into the role of low‐level mosaicism in NLRP3 as the pathophysiologic mechanism underlying cryopyrin‐associated periodic syndrome.

Background: This study aimed to assess the baseline characteristics and clinical outcomes of coronavirus disease 2019 (COVID-19) in pediatric patients with rheumatic and musculoskeletal diseases (RMD) and identify the risk factors associated with symptomatic or severe disease defined as hospital admission, intensive care admission or death. Methods: An observational longitudinal study was conducted during the first year of the SARS-CoV-2 pandemic (March 2020–March 2021). All pediatric patients attended at the rheumatology outpatient clinics of six tertiary referral hospitals in Madrid, Spain, with a diagnosis of RMD and COVID-19 were included. Main outcomes were symptomatic disease and hospital admission. The covariates were sociodemographic and clinical characteristics and treatment regimens. We ran a multivariable logistic regression model to assess associated factors for outcomes. Results: The study population included 77 pediatric patients. Mean age was 11.88 (4.04) years Of these, 30 patients (38.96%) were asymptomatic, 41 (53.25%) had a mild-moderate COVID-19 and 6 patients (7.79%) required hospital admission. The median length of hospital admission was 5 (2–20) days, one patient required intensive care and there were no deaths. Previous comorbidities increased the risk for symptomatic disease and hospital admission. Compared with outpatients, the factor independently associated with hospital admission was previous use of glucocorticoids (OR 3.51; p = 0.00). No statistically significant risk factors for symptomatic COVID-19 were found in the final model. Conclusion: No differences in COVID-19 outcomes according to childhood-onset rheumatic disease types were found. Results suggest that associated comorbidities and treatment with glucocorticoids increase the risk of hospital admission.

Background Primary pyomyositis is a rare condition in children that should be included in the differential diagnosis of musculoskeletal infections. Objectives To describe the clinical features of pyomyositis as well as its diagnostic and therapeutic approach. Methods A descriptive and retrospective study was performed by reviewing medical records of patients admitted to our hospital from January 1996 to July 2013 with a diagnosis of primary pyomyositis. Results A total of 25 patients (16 men, 9 women) aged between one month and 14 years (median age 2 years) were registered. Two peaks of incidence have been found in the months of July and October. The most frequent clinical manifestations were the presence of local pain (24 patients), fever (18 patients), local swelling (9 patients) and skin rash (7 patients). Predisposing factors in 8 patients (1 strenuous exercise, 4 trauma, 3 intramuscular injections) were found. The primary site was pelvic muscles or lower extremities (20 patients). In laboratory results, we found the presence of leukocytosis, with an average value of 12,936±5.753/uL leukocytes, total neutrophils 4.659/uL ±7.350), ESR of 55±28 mm) and PCR 8±6 mg/dL). CPK was normal in 5 out of 6 patients who were requested. Laboratory results were positive for Staphylococcus aureus (7 patients), Salmonella no tiphy (1 patient) and Bacteroides fragillis (1 patient). Ultrasound suggested the diagnosis in 11 cases and magnetic resonance imaging support the diagnosis in all cases. All patients received intravenous antibiotic therapy (mean duration 11 days) followed by oral antibiotic therapy (mean duration 23 days). 9 patients suffered complications as abscess formation, 3 need abscess aspiration and one of them required surgical drainage. None of our patients had residual functional limitations. Conclusions It is important to have a high index of suspicion for pyomyositis in patients with fever and musculoskeletal pain at an early stage in order to initiate start appropriate antibiotic treatment against Staphylococcus aureus. Although ESR and ultrasound may be useful, it is necessary to complement with magnetic resonance imaging in order to support the diagnosis in all cases. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.4467

Chronic pain is the most common symptom of osteoarthritis and is very often accompanied by limitations in the performance of activities of daily living and has a negative impact on patients’ quality of life. It is estimated that 14% of the elderly population routinely use NSAIDs for pain management, not without serious adverse effects. Objective: We aimed to test the efficacy and possible side effects of OliminaDol (encapsulated combination of purified hydroxytyrosol, omega-3 fatty acids and curcumin) in the treatment of chronic osteoarthritis pain. Seventy-four patients with a diagnosis of osteoarthritis who had chronic pain were selected. The therapeutic intervention consisted of self-administering one capsule of the supplement every 12 h for 30 days. A visual analogue scale (VAS) was used for pain assessment. The efficacy was assessed by comparing the means of pain intensity at baseline and at the end of treatment. The data on the National Cancer Institute (NCI-CTCAE) version 4 criteria were also analyzed. Results: Thirty-six patients were evaluable for the primary objective. The mean value + standard deviation of pain intensity measured by the VAS scale at day +1 was 5.78 + 0.15 and the mean value of pain 30 days after initiation of treatment was 4.19 + 0.22. There was a decrease in pain intensity of 1.63 + 2.28 with p = 0.000. A total of 27 patients (75%) had pain reduction and in 19 of them (52.7%), the difference was greater than 2 points on the VAS scale. OliminaDOL administration was associated with very few and insignificant side effects, notably constipation in two patients (5.4%) and a fishy taste in three patients (8.1%). Conclusions: The administration of OliminaDOL produced a significant decrease in the mean value of pain intensity without side effects. These results, together with other published studies, demonstrate the possibility that some supplements, or a combination of them as in our case, can be an alternative for the treatment of chronic pain.

Switching biologic and targeted synthetic DMARDs (b/tsDMARD) is common in juvenile idiopathic arthritis (JIA) patients, though information about how this switching is done is scarce. This study aimed to determine the incidence rate, reasons for switching, and risk factors associated with switching due to inefficacy across different JIA subtypes. A multi-hospital electronic health record (EHR) registry was used to identify JIA patients prescribed ≥ 1 b/tsDMARD between 2000 and 2024. Patients were categorized into four JIA subgroups: oligoarticular, polyarticular, juvenile spondyloarthritis (JSpA), and systemic JIA. The primary outcomes were switching rates and switching due to inefficacy. Incidence rates (IR) were calculated per 100 patients-year. Cox multivariate regression analyses were run to assess the risk of b/tsDMARDs switching due to inefficacy, expressed as hazard ratio (HR) and 95% CI. In our JIA registry, a total of 213 patients received a b/tsDMARD, with a total of 321 courses. The mean age at onset was 6.03 ± 4.44 years and 66.20% were females. The oligoarticular course group included 69 patients (32.39%), the polyarticular group 76 patients (35.68%), the JSpA group 43 patients (20.19%), and the systemic group 25 patients (11.74%). We found a total of 100 b/tsDMARD switches, with 32.05% of patients switched at least once. The systemic JIA group was more likely to swapping (p ≤ 0.001). Through the study period, the overall switching incidence rate was 7.32 [6.01–8.90] per 100 patients-year. In the stratified analysis across JIA groups, the systemic JIA group exhibited the highest incidence (IR:17.01 [11.20-25.84]). Regarding switching due to inefficacy, global incidence was 4.53 [3.53–5.82] and again systemic JIA was the group with the highest incidence (IR: 9.28 [5.27–16.34]). Still, the adjusted multivariate final model confirms that systemic JIA needed more switching due to inefficacy (2.43 [1.01–5.89], p = 0.04). This real-life study provides data on different switch patterns in various subtypes of JIA, confirming that patients with systemic JIA needed more switching, did more swapping strategies, and had more risk for switching due to inefficacy.

Background: This study aimed to assess the baseline characteristics and clinical outcomes of coronavirus disease 2019 (COVID-19) in pediatric patients with rheumatic and musculoskeletal diseases (RMD) and identify the risk factors associated with symptomatic or severe disease defined as hospital admission, intensive care admission or death. Methods: An observational longitudinal study was conducted during the first year of pandemic SARS-CoV-2 (1 ^st March 2020 to 1 ^st March 2021). All pediatric patients attended at the rheumatology outpatient clinic of six tertiary hospital in Madrid, Spain, with a medical diagnosis of RMD and COVID-19 were included. Main outcomes were symptomatic disease and hospital admission. The covariates were sociodemographic, clinical, and treatments. We ran a multivariable logistic regression model to assess risk factors for outcomes. Results: The study population included 77 pediatric patients. Mean age was 11.88 (4.04) years Of these, 30 patients were asymptomatic, 41 had a mild or moderate disease and other 6 patients (7.79%) required hospital admission related to COVID-19. The median length of stay was 5 (2–20) days and there was no death. Previous comorbidities increased the risk for symptomatic disease and hospital admission. Compared with outpatients, the factor independently associated with hospital admission was the use of glucocorticoids (OR 1.08; p=0.00). No statistically significant findings for symptomatic COVID-19 were found in the final model. Conclusion: Our data found no differences in COVID-19 outcomes between children-onset rheumatic diseases. Our results suggest that associated comorbidities and being in treatment with glucocorticoids increase the risk of hospital admission.