Long-term follow-up of children with chronic non-bacterial osteomyelitis-assessment of disease activity, risk factors, and outcome.

Introduction: Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone-disease of unknown origin. The National Pediatric Rheumatologic Database (NPRD) collects long-term data of children and adolescents with rheumatic diseases including CNO.

Objective: To assess characteristics, courses, and outcomes of CNO with onset in childhood and adolescence and to identify outcome predictors.

Increased Prevalence of Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.

The inflammasome has been recognized as one of the key components of innate immunity. Gain-of-function mutations in the exon 3 of gene have been implicated in inflammatory diseases suggesting the presence of functionally important sites in this region. Q703K (c.

Screening for Type 1 Diabetes Risk in Newborns: The Freder1k Pilot Study in Saxony.

An increased risk for type 1 diabetes can be identified using genetic and immune markers. The Freder1k study introduces genetic testing for type 1 diabetes risk within the context of the newborn screening in order to identify newborns with a high risk to develop type 1 diabetes for follow-up testing of early stage type 1 diabetes and for primary prevention trials. Consent for research-based genetic testing of type 1 diabetes risk is obtained with newborn screening.

Rapid and sustained remission of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome through treatment with anakinra and corticosteroids.

We describe 2 patients with systemic juvenile idiopathic arthritis and macrophage activation syndrome. Treatment with recombinant interleukin 1 receptor antagonist (anakinra) and a corticosteroid rapidly induced remission, which could be maintained with anakinra monotherapy at a stable dose of 2 mg/kg per day. Pain at the injection site during the initial injections was the only adverse effect attributable to anakinra.

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here, we report two exemplary early-onset SLE patients, a 28-month-old patient with WHO class IIB kidney disease, arthritis, and a typical antibody constellation and an 11-month-old infant that presented with microcytic anemia, leukocytosis, arthritis, fasciitis, fatty liver disease, protein losing enteropathy, edema, and minimal change glomerulonephritis.

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.

Dominant mutations in the CIAS1 gene cause a spectrum of autoinflammatory diseases such as familial cold autoinflammatory syndrome, FCAS, which is characterized by episodes of urticaria, arthralgia, fever and conjunctivitis after generalized exposure to cold. We here describe patients of two German families with the 592G-->A, V198M mutation, which has been described to induce FCAS before. However, in our patients the clinical phenotype was very different from this disease.

Differentiation between recurrent tumor and radiation necrosis in a child with anaplastic ependymoma after chemotherapy and radiation therapy.

Background: In patients after treatment for malignant brain tumors, a clear distinction between tumor recurrence and radiation necrosis can be challenging. This case report describes the diagnostic workup in a child with anaplastic ependymoma and inconclusive MRI (magnetic resonance imaging) and PET (positron emission tomography) findings.

Case Report: 1.