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Vaughan JR; Farrer MJ; Wszolek ZK; Gasser T; Durr A; Agid Y; Bonifati V; DeMichele G; Volpe G; Lincoln S; Breteler M; Meco G; Brice A; Marsden CD; Hardy J; Wood NW 《Human molecular genetics》1998,7(4):751-753
A mutation in exon 4 of the human alpha-synuclein gene was reported
recently in four families with autosomal dominant Parkinson's disease (PD).
In order to examine whether mutations in this exon or elsewhere in the gene
are common in familial PD, all seven exons of the alpha- synuclein gene
were amplified by PCR from index cases of 30 European and American
Caucasian kindreds affected with autosomal dominant PD. Each product was
sequenced directly and examined for mutations in the open reading frame. No
mutations were found in any of the samples examined. We conclude that the
A53T change described in the alpha- synuclein gene is a rare cause of PD or
may even be a rare variant. Mutations in the regulatory or intronic regions
of the gene were not excluded by this study.
相似文献
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Cardiac involvement in hydatidosis is rare but because of potentially lethal complications, its recognition is of great importance. The authors present a 55-year-old woman admitted to the clinic with cardiac tamponade and moderate mitral regurgitation caused by a hydatid cyst located at the inferoposterior wall of the left ventricle. 相似文献
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PurposeThe aim of the study was to determine the effect of different auditory methods of attention distraction on postoperative pain and anxiety in children.DesignThe study was conducted as a pretest–posttest experimental study to determine the effect of classical music, Turkish music, and audiobook on the reduction of postoperative pain and anxiety in children.MethodsThe patient population of the study comprised children who had undergone a surgical operation in the pediatric surgery clinics. A total of 90 children were included in the sample of the study. The data were collected using the Visual Analog Scale, the Wong-Baker Faces Pain Scale, and the State-Trait Anxiety Inventory for children, in addition to the sociodemographic data form of the child and the parent.FindingsClassical music, Turkish music, and audiobook methods played an effective role in decreasing postoperative pain and the anxiety state in children. Classical music listening was the most effective method in reducing the pain in children in the postoperative period in the three groups in the study.ConclusionsWe demonstrated that different auditory attention distraction methods had a decreasing effect on postoperative pain and anxiety in children. 相似文献
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Increased levels of soluble adhesion molecules E-selectin and P-selectin in patients with cardiac syndrome X 总被引:1,自引:0,他引:1
Senen K Ileri M Alper A Yetkin F Atak R Hisar I Yetkin E Turhan H Bardakçi H Demirkan D 《Angiology》2005,56(3):273-277
The role of endothelial dysfunction and platelet activation in patients with cardiac syndrome X is controversial. The aim of this study was to investigate the plasma levels of circulating E- and P-selectin molecules in patients with syndrome X. The study included 21 patients with cardiac syndrome X (11 men and 10 women, mean age = 56 +/- 5 years) and 20 patients with significant coronary artery disease who had stable angina pectoris (11 men and 9 women, mean age = 60 +/- 8 years). Twenty-two age- and sex-matched subjects (12 men and 10 women, mean age = 58 +/- 8 years) undergoing diagnosis of atypical chest pain in whom coronary arteries were found normal and exercise test had no signs of ischemia served as the control group. Syndrome X was defined as presence of typical chest pain on exertion or at rest with positive exercise test and angiographically normal epicardial coronary arteries with no evidence of coronary spasm after intracoronary infusion of ergonovine maleate. The mean plasma concentrations of P-selectin were significantly elevated both in patients with coronary artery disease and syndrome X as compared with control subjects (49.15 +/-7.47 and 42.80 +/- 8.93 vs 22.63 +/-6.47 ng/mL, p < 0.001). Similarly, both patients with coronary artery disease and syndrome X had higher plasma concentrations of E-selectin than the control group (78.85 +/- 16.69 and 68.38 +/- 15.30 vs 36.43 +/- 4.72 ng/mL, p < 0.001). In conclusion, patients with syndrome X had increased plasma concentrations of soluble adhesion molecules, E-selectin and P-selectin, reflecting an ongoing chronic inflammation involved with endothelial dysfunction and enhanced platelet activation/damage in this setting. 相似文献
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顺铂聚乳酸微球的药物释放特性及肝动脉栓塞研究 总被引:5,自引:0,他引:5
对顺铂聚乳酸微球进行了体外药物释放和家犬肝动脉栓塞研究。该微球粒径范围为50~200μm,平均粒径为115.76±35.94μm,顺铂含量为37.16%(W/W);体外药物释放机制符合Higuchi方程;肝动脉栓塞后8h,肝组织顺铂浓度高达21.55±12.18μg/g,明显高于肝动脉灌注顺铂组:3.16±0.09μg/g(P<0.05);肝动脉栓塞组的顺铂血浓峰值、各取血点浓度及曲线下面积AUC皆低于肝动脉灌注顺铂组。可望达到提高栓塞部位的药物疗效,降低全身毒副反应的作用。 相似文献
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In this case report, a patient with rheumatic mitral stenosis and R-1 subtype single coronary artery arising from the ascending aorta ("high take-off" origin) and coursing between the aorta and pulmonary artery is presented. The clinical significance and differential diagnosis are discussed. To the authors' knowledge, this is the first case reported in the literature with a single R-1 subtype coronary artery that shows "high take-off" origin. 相似文献