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11.
Masahiko Nakamura Toru Nakazawa Hiroshi Doi Takehiro Hariya Kazuko Omodaka Tatsuro Misu Toshiyuki Takahashi Kazuo Fujihara Kohji Nishida 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2010,248(12):1777-1785
Background
Neuromyelitis optica (NMO) is a recurring inflammatory neurological disease characterized by severe optic neuritis and myelitis. The purpose of this study was to determine whether the retinal nerve fiber layer thickness (RNFLT) is correlated with the clinical presentations in patients with NMO and to determine the clinical factors that lead to poor visual outcomes. 相似文献12.
Saito M Nishikomori R Kambe N Fujisawa A Tanizaki H Takeichi K Imagawa T Iehara T Takada H Matsubayashi T Tanaka H Kawashima H Kawakami K Kagami S Okafuji I Yoshioka T Adachi S Heike T Miyachi Y Nakahata T 《Blood》2008,111(4):2132-2141
Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoinflammatory disorders in which the majority of patients have mutations in the cold-induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistinguishable clinical features, some patients lack CIAS1 mutations by conventional nucleotide sequencing. We recently reported a CAPS patient with mosaicism of mutant CIAS1, and raised the possibility that CIAS1 mutations were overlooked in "mutation-negative" patients, due to a low frequency of mosaicism. To determine whether there were latent mutant cells in "mutation-negative" patients, we sought to identify mutation-associated biologic phenotypes of patients' monocytes. We found that lipopolysaccharide selectively induced necrosis-like cell death in monocytes bearing CIAS1 mutations. Monocyte death correlated with CIAS1 up-regulation, was dependent on cathepsin B, and was independent of caspase-1. Cell death was intrinsic to CIAS1-mutated monocytes, was not mediated by the inflammatory milieu, and was independent of disease severity or anti-IL-1 therapy. By collecting dying monocytes after lipopolysaccharide treatment, we succeeded in enriching CIAS1-mutant monocytes and identifying low-level CIAS1-mosaicism in 3 of 4 "mutation-negative" CAPS patients. Our findings reveal a novel effect of CIAS1 mutations in promoting necrosis-like cell death, and demonstrate that CIAS1 mosaicism plays an important role in mutation-negative CAPS patients. 相似文献
13.
Tomoyuki Asano Yuzuka Saito Naoki Matsuoka Jumpei Temmoku Yuya Fujita Kasumi Hattori Shunsuke Kobayashi Akira Ojima Toshiyuki Takahashi Haruki Matsumoto Makiko Yashiro-Furuya Shuzo Sato Hiroko Kobayashi Hiroshi Watanabe Kiori Yano Tomomi Sasajima Kazuo Fujihara Kiyoshi Migita 《Medicine》2021,100(15)
Rationale:Anti-myelin oligodendrocyte protein antibody-associated disease (MOGAD) is a new disease entity with various clinical phenotypes. MOGAD often present with recurrent optic neuritis (ON), and it can also develop as a compartment of neuromyelitis optica spectrum disorder (NMOSD). Moreover, multiple autoantibodies such as an anti-myeloperoxidase antineutrophil cytoplasmic antibody (MPO-ANCA) had been reported in the serum of patients with NMOSD.Patient concerns:We report an 86-year-old woman with a 2-year history of microscopic polyangiitis (MPA). The patient had a rapid loss of vision in her left eye. No abnormal findings were observed on her left fundus, and she tested negative for MPO-ANCA upon admission. However, anti-MOG antibodies were observed in the patient''s serum and cerebrospinal fluid.Diagnosis:A diagnosis of MOGAD complicated with MPA was made.Interventions:The patient received twice steroid pulse therapy and oral azathioprine as maintenance therapy.Outcomes:Her vision rapidly recovered, and no subsequent relapse was observed during the 8-month observation period.Conclusion:To the best of our knowledge, this is the first case of MOGAD complicated with MPA, and steroid pulse therapy and azathioprine therapy were effective for ON caused by MOGAD. 相似文献
14.
15.
Salvage combined chemotherapy with paclitaxel,ifosfamide and nedaplatin for patients with advanced germ cell tumors 下载免费PDF全文
16.
We describe characteristics of a selective endothelin (ET) ETB receptor antagonist, BQ‐788 [N‐cis‐2,6‐dimethylpiperidinocarbonyl‐L‐γ‐methylleucyl‐D‐1‐methoxycarbonyltryptophanyl‐D‐norleucine], which is widely used to demonstrate the role of endogenous or exogenous ETs in vitro and in vivo. In vitro, BQ‐788 potently and competitively inhibited 125I‐labeled ET‐1 binding to ETB receptors in human Girrardi heart cells (hGH) with an IC50 of 1.2 nM, but only poorly inhibited the binding to ETA receptors in human neuroblastoma cell line SK‐N‐MC cells (IC50, 1300 nM). In isolated rabbit pulmonary arteries, BQ‐788 showed no agonistic activity up to 10 μ and competitively inhibited the vasoconstriction induced by an ETB‐selective agonist (pA2, 8.4). BQ‐788 also inhibited several bioactivities of ET‐1, such as bronchoconstriction, cell proliferation, and clearance of perfused ET‐1. Thus, it is confirmed that BQ‐788 is a potent, selective ETB receptor antagonist. In vivo, in conscious rats, BQ‐788, 3 mg/kg/h, i.v., completely inhibited a pharmacological dose of ET‐1‐ or sarafotoxin6c (S6c) (0.5 nmol/kg, i.v.)‐induced ETB receptor‐mediated depressor, but not pressor responses. Furthermore, BQ‐788 markedly increased the plasma concentration of ET‐1, which is considered an index of potential ETB receptor blockade in vivo. In Dahl salt‐sensitive hypertensive (DS) rats, BQ‐788, 3 mg/kg/h, i.v., increased blood pressure by about 20 mm Hg. It is reported that BQ‐788 also inhibited ET‐1‐induced bronchoconstriction, tumor growth and lipopolysaccharide‐induced organ failure. These data suggest that BQ‐788 is a good tool for demonstrating the role of ET‐1 and ETB receptor subtypes in physiological and/or pathophysiological conditions. 相似文献
17.
18.
Haruo Takeshita Junko Fujihara Toshihiro Yasuda Kaori Kimura‐Kataoka 《CTS Clinical and Translational Science》2015,8(4):347-350
Purpose
X‐ray repair cross‐complementing group 1 (XRCC1) repairs single‐strand breaks in DNA. Several reports have shown the association of single nucleotide polymorphisms (SNPs) (Arg194Trp, Pro206Pro, Arg280His, Arg399Gln) in XRCC1 to diseases. Limited population data are available regarding SNPs in XRCC1, especially in African populations. In this study, genotype distributions of four SNPs in worldwide populations were examined and compared with those reported previously.Materials and Methods
Four SNPs (Arg194Trp, Pro206Pro, Arg280His, Arg399Gln) in XRCC1 from genomic DNA samples of 10 populations were evaluated by using polymerase chain reaction followed by restriction fragment length polymorphism analysis.Results
The frequency of the minor allele corresponding to the Trp allele of XRCC1Arg194Trp was higher in Asian populations than in African and Caucasian populations. As for XRCC1Pro206Pro, Africans showed higher minor allele frequencies than did Asian populations, except for Tamils and Sinhalese. XRCC1 Arg280His frequencies were similar among Africans and Caucasians but differed among Asian populations. Similarly, lower mutant XRCC1 Arg399Gln frequencies were observed in Africans.Conclusions
This study is the first to show the existence of a certain genetic heterogeneity in the worldwide distribution of four SNPs in XRCC1. 相似文献19.
20.
Shintaro Fujihara Hideki Kobara Hirohito Mori Yasuhiro Goda Taiga Chiyo Tae Matsunaga Noriko Nishiyama Maki Ayaki Tatsuo Yachida Tsutomu Masaki 《International journal of medical sciences》2015,12(6):450-457
Background: The use of a retroflexed view exposes the entire tumor surface, which is obscured in the forward view, and contributes to complete tumor resection when combined with forward views. However, the efficacy and safety of using the retroflexed view for colorectal endoscopic submucosal dissection (ESD) are poorly understood.Methods: In this study, we assessed the efficacy and safety of the retroflexed view in colorectal ESD. From April 2009 to December 2013, 130 colorectal tumors were examined in 128 patients treated with ESD. A total of 119 patients with a mean tumor size of 27.2 mm were enrolled in the study, and these patients were assigned to undergo colorectal ESD with or without a retroflexed view.Results: The use of retroflexion was successful in 84.2% of patients. There were no perforations in the study and no complications related to the use of retroflexed views. The mean procedure time was 103.6±55.8 min in the retroflexed group, as compared with 108.0±66.5 min in the forward view group. The mean procedure time for resecting tumors >40 mm was significantly shorter in the retroflexed group relative to the forward group. Additionally, the mean dissection speed per unit area was significantly faster in the retroflexed group, as compared with the forward group.Conclusions: Retroflexed views can be used to remove lesions >40 mm and shorten procedure times. Retroflexion may also contribute to an improved en bloc resection rate. 相似文献