JB Kuemmerle-Deschner

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OBJECTIVE To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. METHODS A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease(More)
OBJECTIVE To report on referral patterns of primary physicians for children subsequently diagnosed with juvenile idiopathic arthritis (JIA) and to identify predictors of delayed referral to a pediatric rheumatology center. METHODS A retrospective cohort study of consecutive patients with JIA referred to a pediatric rheumatology center over a 15-year(More)
OBJECTIVES Bone density in juvenile idiopathic arthritis (JIA) is largely normal whereas geometric parameters of bone are abnormal. The most prominent changes are a reduction in muscle cross sectional area (CSA) and muscle force. The aim of this study was to assess the evolution of these changes throughout the course of the disease. METHODS Twenty-five(More)
Juvenile dermatomyositis (JDM) is a chronic inflammatory disorder of unknown aetiology that affects muscle and skin. We report on two patients with severe progressive JDM who developed contractures and were wheelchair dependent despite therapy including methotrexate (MTX), steroids, immunoglobulins, cyclosporin A, and rituximab. On account of the refractory(More)
Cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation caused by mutations in the NLRP3 gene. Besides confirmed pathogenic NLRP3 mutations, patients with CAPS-like symptoms frequently show low penetrance variants in NLRP3. The disease relevance of these variants is inconsistent. In this study, we(More)
BACKGROUND The knowledge of limb segment masses is critical for the calculation of joint torques. Several methods for segment mass estimation have been described in the literature. They are either inaccurate or not applicable to the limb segments of children. Therefore, we developed a new cylinder brick model (CBM) to estimate segment mass in children. (More)
Sulphasalazine is an effective drug for the treatment of rheumatoid arthritis in adults. In paediatric patients, the drug has been used to treat inflammatory bowel disease and is currently under investigation for the treatment of juvenile chronic arthritis. Although sulphasalazine has a rather low incidence of serious side effects, one of the most common is(More)