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Testing association of rare genetic variants with resistance to three common antiseizure medications
Stefan Wolking Claudia Moreau Anne T. Nies Elke Schaeffeler Mark McCormack Pauls Auce Andreja Avbersek Felicitas Becker Martin Krenn Rikke S. Møller Marina Nikanorova Yvonne G. Weber Sarah Weckhuysen Gianpiero L. Cavalleri Norman Delanty Chantal Depondt Michael R. Johnson Bobby P.C. Koeleman Wolfram S. Kunz Anthony G. Marson Josemir W. Sander Graeme J. Sills Pasquale Striano Federico Zara Fritz Zimprich Matthias Schwab Roland Krause Sanjay M. Sisodiya Patrick Cossette Simon L. Girard Holger Lerche EpiPGX Consortium 《Epilepsia》2020,61(4):657-666
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Fuhrer Hannah Schönenberger Silvia Niesen Wolf-Dirk Seide Svenja Meyne Johannes Gerner Stefan T. Vollmuth Christoph Beck Christopher Meckel Stephan Schocke Michael Wodarg Fritz Huttner Hagen B. Möhlenbruch Markus A. Kieser Meinhard Ringleb Peter Neugebauer Hermann 《Journal of neurology》2020,267(8):2481-2481
Journal of Neurology - The original keywords were not sufficiently precise in describing the article content. Therefore, the key words were amended to include hemicraniectomy and malignant edema. 相似文献
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Manuel Kolb Kaspar Ekert Luisa Schneider Jan Fritz Sorin Dumitru Ioanoviciu Jörg Henes Marius Horger 《Ultrasound in medicine & biology》2021,47(8):2176-2185
Changes in muscle elasticity are expected in patients with untreated myositis. The purpose of this study was to define the accuracy of shear-wave elastography (SWE) in diagnosing myositis. This case control study included 21 patients (mean age, 49.4 y; 12 women) with myositis who underwent SWE, magnetic resonance imaging (MRI) and biopsy of the involved muscle group. SWE was performed accordingly in a control group (n = 24; mean age, 51.2 y; 8 women). Blood tests consisted of creatine kinase (CK) and aldolase. Two operators performed SWE in longitudinal and transverse planes of muscular fibers, quantifying the mean shear-wave velocity (SWV) and the pattern of stiffness. On MRI, short-TI inversion recovery (STIR) signal hyperintensity and T1 contrast enhancement of muscle was considered diagnostic for myositis. The patient group suffered from different types of myositis (nine patients with polymyositis, eight with dermatomyositis and four with other types of myositis). Blood tests showed significantly increased CK and aldolase values in patients with myositis (p < 0.001 and p < 0.0001). MRI showed a sensitivity of 0.95. In the patient group, the mean SWVs of longitudinal and transverse measurements were 2.8 ± 1.4 m/s and 3.1 ± 1.2 m/s, respectively. In the control group, SWVs were 2.3 ± 0.5 m/s and 2.4 ± 0.5 m/s, respectively. The difference between transverse measurements was significant (p = 0.02). Increased heterogeneity as a marker for myositis in transverse SWE showed a sensitivity of 0.8, specificity of 0.79, positive predictive value (PPV) of 0.76 and negative predictive value (NPV) of 0.82. Inter-observer difference was very low (κ = 0.92). Increased heterogeneity in both planes compared with histologic results showed a sensitivity of 0.56, specificity of 0.93, PPV of 0.91 and NPV of 0.62. Spearman correlation between CK <1000 U/L and SWE was 0.54. In conclusion, transverse orientation SWE may serve as an imaging biomarker for the diagnosis of myositis through the display of a heterogeneous pattern and increased absolute SWV values of inflamed muscles. 相似文献
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