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51.
Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys‐Dietz syndrome
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![点击此处可从《American journal of medical genetics. Part A》网站下载免费的PDF全文](/ch/ext_images/free.gif)
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Noriaki Naeshiro Hideaki Kakizawa Hiroshi Aikata Hiromi Kan Hatsue Fujino Takayuki Fukuhara Tomoki Kobayashi Yohji Honda Daisuke Miyaki Tomokazu Kawaoka Masataka Tsuge Akira Hiramatsu Michio Imamura Yoshiiku Kawakami Hideyuki Hyogo Masaki Ishikawa Kazuo Awai Kazuaki Chayama 《Hepatology research》2014,44(7):740-749
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Tomoki Tokuda Ryo Tsuruda Takuya Hara Haruki Kobayashi Katsufumi Tanaka Wataru Takarada Takeshi Kikutani Juan P. Hinestroza Joselito M. Razal Midori Takasaki 《Materials》2020,13(24)
Melt-electrospinning is an eco-friendly method for producing ultra-fine fibers without using any solvent. We prepared webs of poly(ethylene terephthalate) (PET) through melt-electrospinning using CO2 laser irradiation for heating. The PET webs comprised ultra-fine fibers of uniform diameter (average fiber diameter = 1.66 μm, coefficient of variation = 19%). The co-existence of fibers with high and low molecular orientation was confirmed through birefringence measurements. Although the level of high orientation corresponded to that of commercial highly oriented yarn, crystalline diffraction was not observed in the wide-angle X-ray diffraction (WAXD) analysis of the webs. The crystallinity of the webs was estimated using differential scanning calorimetry (DSC). The fibers with higher birefringence did not exhibit any cold crystallization peak. After annealing the web at 116 °C for 5 min, a further increase in the birefringence of the fibers with higher orientation was observed. The WAXD results revealed that the annealed webs showed crystalline diffraction peaks with the orientation of the c-axis along the fiber axis. In summary, the formation of fibers with a unique non-crystalline structure with extremely high orientation was confirmed. 相似文献
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Kawai T Nishikomori R Izawa K Murata Y Tanaka N Sakai H Saito M Yasumi T Takaoka Y Nakahata T Mizukami T Nunoi H Kiyohara Y Yoden A Murata T Sasaki S Ito E Akutagawa H Kawai T Imai C Okada S Kobayashi M Heike T 《Blood》2012,119(23):5458-5466
Somatic mosaicism has been described in several primary immunodeficiency diseases and causes modified phenotypes in affected patients. X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the NF-κB essential modulator (NEMO) gene and manifests clinically in various ways. We have previously reported a case of XL-EDA-ID with somatic mosaicism caused by a duplication mutation of the NEMO gene, but the frequency of somatic mosaicism of NEMO and its clinical impact on XL-EDA-ID is not fully understood. In this study, somatic mosaicism of NEMO was evaluated in XL-EDA-ID patients in Japan. Cells expressing wild-type NEMO, most of which were derived from the T-cell lineage, were detected in 9 of 10 XL-EDA-ID patients. These data indicate that the frequency of somatic mosaicism of NEMO is high in XL-ED-ID patients and that the presence of somatic mosaicism of NEMO could have an impact on the diagnosis and treatment of XL-ED-ID patients. 相似文献
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Ichinose K Origuchi T Kawashiri SY Iwamoto N Fujikawa K Aramaki T Kamachi M Arima K Tamai M Nakamura H Ida H Kawakami A Eguchi K 《Rheumatology international》2012,32(2):483-487
We present six cases of patients with Japanese rheumatoid arthritis (RA) treated with a tumor necrosis factor (TNF)-alpha blocking agent, adalimumab as monotherapy for 220?weeks. All six patients were women, and the median age was 54.0?±?7.07?years old. The median duration of the disease was 7.43?±?11.1?years, and the median disease activity score (DAS28-CRP) was 5.35?±?0.69. Three of six patients were able to continue to receive this treatment for 220?weeks successfully, and the DAS28-CRP decreased to 1.89?±?0.75. Two patients withdrew because of lack of efficacy, and one patient withdrew because of adverse events (non-Hodgkin lymphoma). Adalimumab resulted in a sustained clinical response in RA patients during 220-week follow-up. 相似文献
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