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Chikao Iwai Hozuka Akita Nobuyuki Shiga Eiji Takai Yoshitomo Miyamoto Masakatsu Shimizu Hiroya Kawai Akira Takarada Teishi Kajiya Mitsuhiro Yokoyama 《Circulation journal》2002,66(8):723-728
Beta-1-adrenergic receptor (beta1-AR) blockers reduce both the incidence of sudden death and the ventricular volume in heart failure. In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activities than the Arg389 variant, so Arg389Gly polymorphism was investigated with regard to the genesis, progression, or arrhythmogenesis of dilated cardiomyopathy (DCM). Allele and genotype frequencies of the Arg389Gly polymorphism were determined in 163 DCM patients and 157 age- and sex-matched controls. There were no differences in genotype and allele frequencies between patients and controls. Echocardiograms, left ventriculograms and 24h-Holter electrocardiograms were evaluated in the DCM patients and none of the clinical indices, other than ventricular tachycardia (VT), differed among the 3 genotypes. The Gly389 allele was more frequent in the VT(-) group than in the VT(+) group (0.46 vs 0.24, p=0.001). In univariate analysis, the odds ratio for VT in patients carrying 1 or 2 copies of the Gly389 allele was 0.29 ([95% confidence interval, 0.13-0.64], p=0.002), when compared with the Arg389 homozygotes. The Gly389 variant supressed the occurrence of VT in DCM, suggesting that this allele confers a decreased risk of sudden death. 相似文献
13.
Yoshiyuki Okano Miki Okamoto Masahide Yazaki Ayano Inui Toshihiro Ohura Kei Murayama Yoriko Watanabe Daisuke Tokuhara Yasuhiro Takeshima 《Molecular genetics and metabolism》2021,132(1):63-70
Patients with citrin deficiency during the adaptation/compensation period exhibit diverse clinical features and have characteristic diet of high protein, high fat, and low carbohydrate. Japanese cuisine typically contains high carbohydrate but evaluation of diet of citrin-deficient patients in 2008 showed a low energy intake and a protein:fat:carbohydrate (PFC) ratio of 19:44:37, which indicates low carbohydrate consumption rate. These findings prompted the need for diet intervention to prevent the adult onset of type II citrullinemia (CTLN2). Since the publication of the report about 10 years ago, patients are generally advised to eat what they wish under active dietary consultation and intervention. In this study, citrin-deficient patients and control subjects living in the same household provided answers to a questionnaire, filled-up a maximum 6-day food diary, and supplied physical data and information on medications if any. To study the effects of the current diet, the survey collected data from 62 patients and 45 controls comparing daily intakes of energy, protein, fat, and carbohydrate. Food analysis showed that patient's energy intake was 115% compared to the Japanese standard. The confidence interval of the PFC ratio of patients was 20–22:47–51:28–32, indicating higher protein, higher fat and lower carbohydrate relative to previous reports. The mean PFC ratio of female patients (22:53:25) was significantly different from that of male patients (20:46:34), which may explain the lower frequency of CTLN2 in females. Comparison of the present data to those published 10 years ago, energy, protein, and fat intakes were significantly higher but the amount of carbohydrate consumption remained the same. Regardless of age, most patients (except for adolescents) consumed 100–200 g/day of carbohydrates, which met the estimated average requirement of 100 g/day for healthy individuals. Finally, patients were generally not overweight and some CTLN2 patients were underweight although their energy intake was higher compared with the control subjects. We speculate that high-energy of a low carbohydrate diet under dietary intervention may help citrin-deficient patients attain normal growth and prevent the onset of CTLN2. 相似文献
14.
Ken Higashimoto Toshiyuki Maeda Junichiro Okada Yasufumi Ohtsuka Kensaku Sasaki Akiko Hirose Makoto Nomiyama Toshimitsu Takayanagi Ryuji Fukuzawa Hitomi Yatsuki Kayoko Koide Kenichi Nishioka Keiichiro Joh Yoriko Watanabe Koh-ichiro Yoshiura Hidenobu Soejima 《European journal of human genetics : EJHG》2013,21(11):1316-1319
Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the homozygous deletion of exon 9 of DIS3L2 in a Japanese patient with Perlman syndrome. We identified the deletion junction, and implicate a non-allelic homologous recombination (NAHR) between two LINE-1 (L1) elements as the causative mechanism. Furthermore, the deletion junctions were different between the paternal and maternal mutant alleles, suggesting the occurrence of two independent NAHR events in the ancestors of each parent. The data suggest that the region around exon 9 might be a hot spot of L1-mediated NAHR. 相似文献
15.
Comparison of clinical characteristics in patients with type 2 diabetes among whom different antihyperglycemic agents were prescribed as monotherapy or combination therapy by diabetes specialists
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Predictors for typical asthma onset from cough variant asthma. 总被引:6,自引:0,他引:6
Masaki Fujimura Yoriko Nishizawa Masaru Nishitsuji Satoshi Nomura Miki Abo Haruhiko Ogawa 《The Journal of asthma》2005,42(2):107-111
Cough variant asthma is recognized to be a precursor of asthma or preasthmatic state because nearly 30% patients with cough variant asthma develop typical asthma within several years. However, predictors for risk of typical asthma onset from cough variant asthma are unknown. Forty-one patients with cough variant asthma (median age 50 years, 13 men and 28 women), who had undertaken spirometry, bronchial reversibility test, methacholine provocation test, measurements of peripheral blood eosinophil count, serum total IgE, and specific IgE to common allergens, and induced sputum eosinophil count at presentation, were followed up with special emphasis on typical asthma onset during 1 year or more (median 4 years, range 1-12.4). Long-term inhaled corticosteroids (ICS) were taken in 27 patients. Univariate and multivariate logistic analyses were performed to determine the predictors for typical asthma onset. Asthma onset was recognized in 7 patients. Bronchial hyperresponsiveness, peripheral blood eosinophil count, and no use of ICS were significant predictors for the typical asthma onset by univariate analysis. However, only bronchial hyperresponsiveness was the significant predictor when multivariate analysis was used (adjusted OR 0.028, 95% CI 0.001-0.783, p = 0.0355). Bronchial hyperresponsiveness may be the most important predictor for risk of typical asthma onset from cough variant asthma. 相似文献
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Yasuko Ishimoto Taizo Wada Yoriko Kasahara Yumi Kimura Eriko Fukutomi Wenling Chen Mayumi Hirosaki Masahiro Nakatsuka Michiko Fujisawa Ryota Sakamoto Masayuki Ishine Kiyohito Okumiya Kuniaki Otsuka Kozo Matsubayashi 《Geriatrics & Gerontology International》2012,12(4):659-666
Aim: The 21‐item Fall Risk Index (FRI‐21) has been used to detect elderly persons at risk for falls. The aim of this longitudinal study was to evaluate the FRI‐21 as a predictor of decline in basic activities of daily living (BADL) among Japanese community‐dwelling elderly persons independent of fall risk. Methods: The study population consisted of 518 elderly participants aged 65 years and older who were BADL independent at baseline in Tosa, Japan. We examined risk factors for BADL decline from 2008 to 2009 by multiple logistic regression analysis on the FRI‐21 and other functional status measures in all participants. We carried out the same analysis in selected participants who had no experience of falls to remove the effect of falls. Results: A total of 45 of 518 participants showed decline in BADL within 1 year. Multivariate logistic regression analysis showed that age (odds ratio [OR] 1.13, 95% confidence interval [CI] 1.05–1.20), FRI‐21 ≥ 10 (OR 3.81, 95% CI 1.49–9.27), intellectual activity dependence (OR 3.25, 95% CI 1.42–7.44) and history of osteoarthropathy (OR 3.17, 95% CI 1.40–7.21) were significant independent risk factors for BADL decline within 1 year. FRI‐21 ≥ 10 and intellectual activity dependence (≤3) remained significant predictors, even in selected non‐fallers. Conclusion: FRI‐21 ≥ 10 and intellectual activity dependence were significant predictive factors of BADL decline, regardless of fall experience, after adjustment for confounding variables. The FRI‐21 is a brief, useful tool not only for predicting falls, but also future decline in functional ability in community‐dwelling elderly persons. Geriatr Gerontol Int 2012; ??: ??–?? . 相似文献
20.
Kazuya Akahoshi Shinichi Tamura Kazuaki Akahoshi Yoriko Kaneshiro Reiichi Sashihara Kento Uemura Kenta Sato 《World journal of gastrointestinal endoscopy》2021,13(4):111
Endoscopists are at high risk of allowing transmission of coronavirus disease 2019 (COVID-19) during gastrointestinal endoscopy (GIE) procedures under pandemic conditions. The main avenues of droplet-containing aerosol generated during GIE are the mouth, anus, and endoscopic forceps channel. Although the usefulness of personal protective equipment for preventing COVID-19 dissemination has been well reported, measures to address infected aerosol escaping during endoscopic forceps use have been neglected. Pathogen-contaminated aerosol from the endoscopic forceps channel, leading into the gastrointestinal lumen, has been confirmed and is a highly problematic source of infection. We developed a technique that entails covering the forceps entry/exit hole with a vinyl bag, thereby preventing contamination of the endoscopy room by the infected aerosol that escapes from this hole. The technique can be used in daily clinical endoscopic practice. Furthermore, this shielding technique is useful for all patients who undergo GIE, regardless of the purpose of the procedure such as for making a diagnosis, administering therapy, or in an urgent situation. In this letter, we introduce our novel, easily performed, inexpensive method of infection prevention by disallowing infected aerosol to escape from a COVID-19-infected patient into the air during a procedure that requires the use of endoscopic forceps. 相似文献