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

Assessment of Factor Affecting the Quality of Life in Children with Juvenile Idiopathic Arthritis

Abstract Introduction and Objectives: Juvenile idiopathic arthritis (JIA) is a frequently seen chronic rheumatoid disease in childhood, which may cause disability and severely affect quality of life (QoL). The aim of present study was to assess relationships between disease activation and socio-cultural status of family, QoL, anxiety level, and depression level in patients with JIA and their parents. Methods: The study included 100 patients with JIA. The socio-demographic data were obtained from all patients. Child- and parent-reported PedsQL, Beck depression inventory (BDI), Kovacs' Child Depression Inventory (CDI), SCARED child version, CHAQ discomfort and disability scales were applied and JADAS-27 score was calculated in a cross-sectional manner. Then, we compared the characteristics of patients with the scales’ results. Results: JADAS-27, BDI, and CHAQ discomfort scores were higher and child- and parent-reported PedsQL scores were lower in patients with active disease than patients on remission (p<0.05). The SCARED score was higher in girls than boys. The CHAQ disability score was high in children aged 8-12 years (p<0.05). JADAS-27 and CHAQ disability scores were significantly low in patients with better compliance to treatment. Parental statements about changes in mental health after diagnosis were consistent with results of depression and anxiety scales of children. Conclusions: Quality of life is adversely affected in children with JIA, which may result in depression and anxiety. In management of JIA, one of our goals should be maintaining QoL. Further comprehensive studies in relationships between QoL and depression, anxiety, socio-demographic parameters, disease activation and social circle of patient are needed

Oxidant and antioxidant status in children with juvenile idiopathic arthritis.

Objective: Although pathogenesis of juvenile idiopathic arthritis (JIA) is poorly understood, it is thought that a triggered inflammation by neutrophil activation due to any reason, released free oxygen radicals and insufficiency of antioxidant system should play role in the chronic course of this disease. In present study, it was aimed to determine the status of oxidant and antioxidant systems in this disease.Methods: In 45 patients with JIA (23 with active disease, 22 on remission), blood samples were taken to determine erythrocyte sedimentation rate (ESR), the serum levels of C-reactive protein (CRP), advanced oxidation protein products (AOPP), myeloperoxidase (MPO), thiol, total oxidant capacity (TOC), total antioxidant capacity (TAC) and neopterin, following physical examination and questioning for current treatments.Results: Serum ESR, CRP, TOC, TAC and, MPO levels were found higher in patients with active disease than those on remission (p&lt;0.05). No difference was found in neopterin, AOPP and thiol levels. Only TOC levels were higher in active phase than remission phase in same patients.Conclusion: Consequently, even data were obtained regarding that oxidant-antioxidant systems were active in JIA patients during active phase in this study; such activation in favor of oxidants was striking. More comprehensive studies are needed to determine whether oxidantantioxidant systems activation is cause or result.</p