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Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.
Introduction Canakinumab is a recombinant monoclonal fully human antibody against Interleukin-1b and currently the only drug approved for the treatment of CAPS in Europe. Current dose recommendations are 150mg (body weight >40kg) respectively 2mg/kg bodyweight (15 to 40kg) every 8 weeks but yield insufficient response in some individuals, especially in children and patients with severe phenotyp...
We present near-infrared spectroscopic observations of 20 previously known DAZ white dwarfs obtained at the NASA Infrared Telescope Facility. Two of these white dwarfs (G29-38 and GD 362) are known to display significant K-band excesses due to circumstellar debris disks. Here we report the discovery of excess K-band radiation from another DAZ white dwarf, WD 0408 041 (GD 56). Using spectroscopi...
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