Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

Objectives: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with Blau syndrome (BS)/early-onset sarcoidosis (EOS). Patients and methods: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings (1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis, results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected. Results: The median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggy synovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever and granulomatous dermatitis. None had uveitis. The detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) were P268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). The treatments of patients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab. Conclusion: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effective in patients with predominantly articular symptoms. In patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene. Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease

Analysis of Comorbid Diseases in Children with Juvenile Idiopathic Arthritis and Their Effects on the Disease Process

Purpose: Comorbidities are conditions that exist or occur during an index disease course. Comorbidities may affect the chronic disease process. Juvenile idiopathic arthritis (JIA) is a chronic childhood arthritis of unknown etiology. We aimed to evaluate comorbidities associated with JIA and their effects on the course of the disease. Materials and Methods: We included patients under 18 years of age with JIA in our center between 2005 and 2021. All diseases accompanying JIA and recorded in the medical records were considered as comorbidities. JIA disease activity indexes (JADAS27, JSPADAS), damage index (JADI-A, JADI-E), and health assessment questionnaire index (CHAQ) and JIA treatments were compared according to the presence of comorbidity. Results: Two hundred and four patients were included in the study. The median age was 13(4-17.5) years, and the median follow-up time was 5(2-16) years. Ninety-nine (48.5%) patients had at least one comorbidity. Twenty-four patients had more than one comorbidity. The most common comorbidity was FMF (n=31 (15.2%)), followed by uveitis in 23 (11.3%). JADAS 27, and JSPADAS were indifferent in patients with comorbidity (p=0.55, p=0.63, respectively). JADI-A, JADI-E, and CHAQ scores were similar in the two groups (JADI-A:p=0.45; JADI-E:p=0.11; CHAQ disability:p=0.62; CHAQ discomfort:p=0.61; CHAQ pain:p=0.32). Forty-two (42.4%) patients with comorbidities and 43 (41%) patients without comorbidity used biological drugs (p=0.83). Adalimumab treatment was higher in those with comorbidity (patients with comorbidity:n=22 (22.2%); without comorbidity:n=11 (10.5%); p=0.02). Conclusion: Although comorbidity did not affect disease activity, damage score, and Health Assessment Questionnaire index, the JIA treatment varied according to comorbidity

Assesment of Damage in Juvenile Idiopathic Arthritis: Single Center Experience

Introduction:It is essential to evaluate the activation and the articular and extra-articular damage during the Juvenile Idiopathic Arthritis(JIA) disease course. Objectives:This study aimed to evaluate the damage status and affecting factors in JIA patients. Methods:Juvenile Arthritis Damage Index articular(JADI-A) and extra-articular(E) were evaluated in 204 JIA patients who had been followed up for two years andmore. JADI-A and E affecting factors were assessed by univariate and multivariate logistic regression analysis. Results: In this study,127(62.6%) of the patients were female. The median age was 13(IQR: 11-16), and the age at diagnosis was 7(IQR: 4-10) years. The median follow-up time was 5(IQR: 4-8) years. Ninety-two(45.3%) patients had comorbid diseases. JADI-A were median:0(min-max: 0-24), JADI-E were median:0(min-max:0-4).The annual attacks number [OR:1,759 (CI:1,300-2,379],p:<0,001),annual eritrocyte sedimantation rate (ESR) [OR:1,072(CI:1,021-1,125),p:0.005] were effective on JADI-A scores. The CRP at the first admission [OR:1.007(CI: 1,000-1,014), p:0.037], the annual ESR[OR:1,051(CI:1,008-1,095),p:0.019] were found to be effective on the JADI-E. The ideal cut-off point of the  attacks number and ESR affecting JADI-A scores were 1.38[AUC:0.734(0.641-0.828),p:0.001] and 14.32[AUC:0.617(0.514-0.721),p:0.027], respectively. The ideal cut-off point of the CRP and ESR affecting JADI-E scores were 13,25[AUC:0,662(0,541-0,782),p:0,009],and15,10[AUC:0.674(0.567-0.780),p:0.002], respectively. Steroid related complications such as, obesity in 12 (5.9%), hirsutism in 3 (1.5%), transient adrenal suppression in 14 (6.9%), 8 (3.9%), and osteoporosis were detectedin 7 (3.4%) patients. Conclusion: We have shown that parameters used routinely can be helpful to predict damage. We also think that new criteria should be added to the scoring

The remarkable characteristics of the children with colchicine-resistant familial Mediterranean fever in Turkey

Objective