Kenan Barut

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Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1. Conclusion: Identification of CECR1 mutations in patients with(More)
Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of the childhood with the highest risk of disability. Active disease persists in the adulthood in a significant portion of children with juvenile rheumatoid arthritis despite many developments in the diagnosis and treatment. Therefore, initiation of efficient treatment in the(More)
The aim of this study was to investigate subclinical systolic and diastolic dysfunction in juvenile-onset systemic lupus erythematosus (j-SLE) patients with speckle tracking echocardiography (STE) and the effects of disease activity on left ventricular (LV) regional functions. Thirty-five patients with j-SLE and 30 healthy children (control group) were(More)
Juvenile scleroderma (JS) represents a rarely seen group of connective tissue diseases with multiple organ involvement. Cardiac involvement in JSS is well known and, although rare in children, it may be an important cause of mortality and morbidity. Therefore, an early determination of cardio-vascular and pulmonary involvement is of the most relevance to(More)
AIM This study aimed to evaluate the demographic, clinical, laboratory properties of patients with macrophage activation syndrome and treatment outcomes. MATERIAL AND METHODS The data of the patients who were diagnosed with macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis between June 2013-May 2014 were evaluated by(More)
Juvenile spondyloarthropathies represent a clinical entity separate from the adult disease. Initial clinical signs of juvenile spondyloarthropathies often include lower extremity arthritis and enthesopathy, without axial involvement at the disease onset. Asymmetrical oligoarthritis of lower extremities is typically seen in this type of arthritis.(More)
Introduction Juvenile spondyloarthropathies (JSpA) are a group of rheumatologic diseases with a disease onset before 16 years of age and are characterized with enthesitis, lower extremity oligoarthritis, involvement of the axial skeleton and HLA B27 positivity. The main problem in the classification of this group of diseases is the difficulty of diagnosis(More)
An insidious progression of cardiovascular (CV) involvement is generally associated with rheumatologic diseases and finally regarded as a major source of morbidity and mortality in Juvenile idiopathic arthritis (JIA) patients. JIA could involve all of the cardiac structures, including pericardium, myocardium, endocardium; coronary vessels; valves and(More)
Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan degradation. Mucopolysaccharidosis type IX is the rarest form of mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short stature and periarticular soft tissue masses; the other(More)
The aim of this study was to determine the frequency of vitamin D deficiency and/or insufficiency in children with juvenile idiopathic arthritis (JIA) and familial Mediterranean fever (FMF) and to assess the relationship between vitamin D and disease activity. Sixty four patients with JIA, thirty six patients with FMF and one hundred healthy children were(More)