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Kazuo Kubota Hidenori Ohnishi Takahide Teramoto Eiko Matsui Kana Murase Hiroyuki Kanoh Zenichiro Kato Hideo Kaneko Mariko Seishima Naomi Kondo 《Journal of clinical immunology》2013,33(2):325-334
Purpose
Hereditary periodic fever syndromes have been considered monogenic diseases. However, some recent reports have described patients with co-existence of recurrent fever responsible genes. This study assessed whether a rare variant, found in Japanese children showing atypical autoinflammatory syndrome, located in the leucine-rich repeat domain of Nod-like receptor family, pyrin domain containing 3 (NLRP3) with co-existence of Mediterranean fever (MEFV) haplotype variants may contribute to a proinflammatory phenotype using a systematic approach.Methods
Cytokine production in serum or from peripheral blood monocytes was measured by ELISA. DNA sequence analysis of genes including NLRP3, MEFV, mevalonate kinase (MVK), and tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A) were performed on patient samples. In vitro functional assays determined the effects of the NLRP3 variants and pyrin using NF-κB activation and speck formation assays.Results
A heterozygous genetic variant of NLRP3, G809S, was found in samples from both patients. Additionally the previously reported heterozygous MEFV variants (P369S-R408Q or E148Q-P369S-R408Q) were also detected in both patients. Serum IL-1ra and sTNFR1 levels increased in the attack phase of the disease in both patients. The production levels of IL-1β from monocytes isolated from both cases were elevated following LPS and IFN-γ stimulation. The NLRP3 G809S variant demonstrated no increase of NF-κB activity following monosodium urate stimulation, whereas it significantly increased speck formation by interacting with apoptosis-associated speck-like protein with caspase recruitment domain.Conclusions
The phenotype of atypical autoinflammatory disease in patients could be modified by a synergistic effect with two other variants of autoinflammatory-associated genes. 相似文献83.
84.
Rifu Kazuma Sasanuma Hideki Takayama Noriya Nitta Naotaka Ogata Yukiyo Akiyama Iwaki Taniguchi Nobuyuki 《Journal of Medical Ultrasonics》2021,48(2):137-144
Journal of Medical Ultrasonics - We previously reported that acoustic radiation force impulse (ARFI) with concomitant administration of perfluorobutane as an ultrasound contrast agent (UCA)-induced... 相似文献
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Hidetsuna Kitamura Yoshio Ohnishi Katsunori Okajima Akihiko Ishida ErdulfoJavier Galeano Kazumasa Adachi Mitsuhiro Yokoyama 《Journal of the American College of Cardiology》2002,39(2):295-300
OBJECTIVES: This study was designed to determine the prognostic value of onset heart rate (OHR) in T-wave alternans (TWA) in patients with nonischemic dilated cardiomyopathy (DCM). BACKGROUND: One of the current major issues in DCM is to prevent sudden cardiac death (SCD). However, the value of the OHR of TWA as a prognostic indicator in DCM remains to be elucidated. METHODS: We prospectively investigated 104 patients with DCM undergoing TWA testing. The end point of this study was defined as SCD, documented sustained ventricular tachycardia/ventricular fibrillation. Relations between clinical parameters and subsequent outcome were evaluated. RESULTS: Forty-six patients presenting with TWA were assigned to one of the following two subgroups according to OHR for TWA of < or = 100 beats/min: group A (n = 24) with OHR < or = 100 beats/min and group B (n = 22) with 100 < OHR < or = 110 beats/min. T-wave alternans was negative in 37 patients (group C) and indeterminate in 21 patients. The follow-up result comprised 83 patients with determined TWA. During a follow-up duration of 21 +/- 14 months, there was a total of 12 arrhythmic events, nine of which included three SCDs in group A, two in group B and one in group C. The forward stepwise multivariate Cox hazard analysis revealed that TWA with an OHR < or = 100 beats/min and left ventricular ejection fraction were independent predictors of these arrhythmic events (p = 0.0001 and p = 0.0152, respectively). CONCLUSIONS: The OHR of TWA is of additional prognostic value in DCM. 相似文献
87.
Kazuto Hoshi Yuko Fujihara Yukiyo Asawa Satoru Nishizawa Sanshiro Kanazawa Tomoaki Sakamoto Makoto Watanabe Toru Ogasawara Hideto Saijo Yoshiyuki Mori Tsuyoshi Takato 《Oral Science International》2013,10(1):15-19
Greater progress has been made in the clinical application of cartilage regenerative medicine, compared with that of other organs. A typical example of cartilage regenerative medicine is autologous chondrocyte implantation, in which chondrocytes isolated from the patient's cartilage are cultured and injected into the cartilage defects in a liquid- or gel-form. However, the classic autologous chondrocyte implantation has been applicable to only limited diseases, including focal cartilage lesion. Therefore, we developed “implant-type” tissue-engineered cartilage that shows mechanical strength and three-dimensional shape. This type of tissue-engineered cartilage uses scaffold composed of atelocollagen hydrogel and poly-l-lactic acid porous material, which is administered with cultured autologous auricular chondrocytes. Its clinical application to nasal deformity of cleft lip and palate patients has been ongoing at present. This review presents an overview of the current situation regarding cartilage regenerative medicine, as well as introducing our research and the development of implant-type tissue-engineered cartilage for the cleft-lip nose. The discussion of the future development of regenerative medicine is also mentioned. 相似文献
88.
Furugen M Saitoh S Ohnishi H Akasaka H Mitsumata K Chiba M Furukawa T Miyazaki Y Shimamoto K Miura T 《Journal of human hypertension》2012,26(5):325-333
Here we examined whether the Matsuda-DeFronzo insulin sensitivity index (ISI-M) is more efficient than the homeostasis model assessment of insulin resistance (HOMA-IR) for assessing risk of hypertension. Cross-sectional and longitudinal analyses were conducted using normotensive subjects who were selected among 1399 subjects in the Tanno-Sobetsu cohort. In the cross-sectional analysis (n=740), blood pressure (BP) level was correlated with HOMA-IR and with ISI-M, but correlation coefficients indicate a tighter correlation with ISI-M. Multiple linear regression analysis adjusted by age, sex, body mass index (BMI) and serum triglyceride level (TG) showed contribution of ISI-M and fasting plasma glucose, but not of HOMA-IR. In the longitudinal analysis (n=607), 241 subjects (39.7%) developed hypertension during a 10-year follow-up period, and multiple logistic regression indicated that age, TG, systolic BP and ISI-M, but not HOMA-IR, were associated with development of hypertension. In subjects <60 years old, odds ratio of new-onset hypertension was higher in the low ISI-M group (ISI-M, less than the median) than in the high ISI-M group for any tertile of BMI. In conclusion, ISI-M is a better predictor of hypertension than is HOMA-IR. Non-hepatic IR may be a determinant, which is independent of TG, BP level and BMI, of the development of hypertension. 相似文献
89.