Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging

SummaryA 12-year-old girl with mucopolysaccharidosis (MPS) type I (Gurler-Scheie syndrome, Q70X/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since the preclinical stage (6 months old) due to positive family history, and started etanercept treatment due to progression of joint pain and decreasing capability to walk. The patient had a significant reduction of pain in the joints and an expansion of daily physical activity without adverse events. A decrease in bone marrow edema without foci progression compared to baseline assessment was observed in the whole-body MRI.During the treatment (baseline/6 months/12 months) the following was observed: childhood health assessment questionnaire (CHAQ) index of 1.88/2.13/1.63 points; patient’s pediatric quality of life inventory (PedsQL) of 37/30/31 points; parental PedsQL of 26/27/34 points; and patient’s pain visual-analog scale (VAS) of 75/45/40, with no VAS recorded for the mother. Juvenile arthritis functional assessment report (JAFAR) scores of 35/34/8 points were observed. A significant reduction in the taking of NSAIDs was observed. In the second half of the year, the nasal breathing became normal, and remission in chronic rhinitis and adenoiditis was achieved (no infection episodes) without otitis episodes.ConclusionEtanercept in mucopolysaccharidosis type 1 is safe and well tolerated. The reduction of joint pain and increased walking capacity were observed. A decreased number of respiratory infection episodes and nasal breathing improvement were noted during the treatment. The observation shows the role of inflammation in the different aspects of MPS. Further investigations on immune system dysregulation in patients with MPS I are needed. Additional studies on the efficacy and safety of anti-rheumatic biological drugs in patients with MPSI are required

Pentagonal two-loop ring interferometer

Results of work on the assembly and adjustment of an original pentagonal, two-loop interferometer are reported; the interferometer is a passive version of a compact laser gravitational wave detector. It is shown that the correlative automatic noise-compensation system developed for the project is capable of lowering the phase noise level in the resultant signal channel of the detector by two orders of magnitude. © 1998 American Institute of Physics

Growth Peculiarities and Properties of KR3F10 (R = Y, Tb) Single Crystals

Cubic KR3F10 (R = Y, Tb) single crystals have been successfully grown using the Bridgman technique. Growth of crystals of this type is complicated due to the hygroscopicity of potassium fluoride and melt overheating. The solution to the problem of oxygen-incorporated impurities has been demonstrated through the utilization of potassium hydrofluoride as a precursor. In this study, the crystal quality, structure features, and optical, thermal and electrophysical properties of KR3F10 were examined. Data on the temperature dependences of conductivity properties of KTb3F10 crystals were obtained for the first time. These crystals indicated thermal conductivity equal to 1.54 ± 0.05 Wm−1K−1 at room temperature caused by strong phonon scattering in the Tb-based crystal lattice. Ionic conductivities of KY3F10 and KTb3F10 single crystals were 4.9 × 10−8 and 1.2 × 10−10 S/cm at 500 K, respectively, and the observed difference was determined by the activation enthalpy of F− ion migration. Comparison of the physical properties of the grown KR3F10 crystals with the closest crystalline analog from the family of Na0.5−xR0.5+xF2+2x (R = Tb, Y) cubic solid solutions is reported

Pentagonal two-loop ring interferometer

Results of work on the assembly and adjustment of an original pentagonal, two-loop interferometer are reported; the interferometer is a passive version of a compact laser gravitational wave detector. It is shown that the correlative automatic noise-compensation system developed for the project is capable of lowering the phase noise level in the resultant signal channel of the detector by two orders of magnitude. © 1998 American Institute of Physics

Pentagonal two-loop ring interferometer

Results of work on the assembly and adjustment of an original pentagonal, two-loop interferometer are reported; the interferometer is a passive version of a compact laser gravitational wave detector. It is shown that the correlative automatic noise-compensation system developed for the project is capable of lowering the phase noise level in the resultant signal channel of the detector by two orders of magnitude. © 1998 American Institute of Physics