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《Clinical neurophysiology》2019,130(12):2231-2237
ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised. 相似文献
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J. M. Troyano M. T. Clavijo A. Gonzalez-Lorenzo I. Martí nez-Wallin O. Y. Marco P. S. Casas L. Martí nez-Cort s L. T. Merc J. Bajo-Arenas N. Hernandez D. Castro 《The Ultrasound Review of Obstetrics & Gynecology》2006,6(1):79-99
In order to assess the state and pathology of the woman's pelvis minor, a number of methods are commonly used among practitioners, encompassing clinical exploration, radiology, MRN, urodynamics, endoscopy and echography.
Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.
At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.
A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2. 相似文献
Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.
At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.
A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2. 相似文献
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回盲部恶性肿瘤的诊治 总被引:1,自引:0,他引:1
目的:分析回盲部恶性肿瘤的诊断和治疗过程,总结经验.以期提高早期确诊率和患者生存率。方法:回顾性分析近5年53例住院治疗的回盲部恶性肿瘤患者的临床资料。结果:53例患者中腺癌、黏液腺癌50例,恶性淋巴瘤3例。首次确诊率为75.5%。误诊或延迟诊断的疾病主要为阑尾炎、阑尾脓肿,胆囊炎、胆石症、下消化道出血、贫血待查等。结论:60岁以上的老年患者为回盲部恶性肿瘤的主要人群,肿瘤类型主要为腺癌。尽管首发症状缺乏特异性,但提高警觉性,详细询问病史,通过大便隐血试验、钡灌肠或气钡双重造影、纤维结肠镜检查仍能有效的提高首次确诊率,积极手术冶疗,可显著改善患者的预后。 相似文献
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浙江省某乡村慢性肾脏病的流行病学研究 总被引:14,自引:1,他引:13
目的 研究我国南方某农村人群中慢性肾脏病(CKD)的患病率及相关因素。方法 对浙江省东阳市某乡村18岁以上的常住居民慢性肾脏病情况及相关因素进行调查和检测。结果 获得完整资料的居民占该村18岁以上自然人口的76.2%。将该村自然人口按年龄性别构成校正后,白蛋白尿发生率为10.4%;肾小球滤过率〈60ml·min^-1·(1.73m^2)^-1的发生率为3.0%;血尿发生率为1.4%。本研究中40岁以上调查对象与北京市某社区及NHANESⅢ中40岁以上调查对象相比,高血压及糖尿病的患病率较低,白蛋白尿和肾功能下降的发生率介于2者之间。多因素Logistic回归提示,年龄增加10岁、糖代谢异常及收缩压水平与白蛋白尿的发生独立相关;女性、年龄增加10岁、高尿酸血症与肾功能下降独立相关;年龄增加10岁及吸烟与血尿独立相关。结论 在该经济快速发展的南方乡村,CKD的疾病谱和相关因素已经与我国大城市和发达国家类似。此外,该人群可能另有导致CKD高发的特殊原因,需进一步研究。 相似文献
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为了探讨腰神经通道狭窄的病因,我们对224例腰椎间盘突出及腰椎管狭窄症患者进行了腰神经通道探查手术,结果发现其病因以腰部组织变性为主。除外伤及反复慢性腰部损伤引起腰部病变外,活动少,或很少进行腰部锻炼,体形肥胖也是引起腰神经通道狭窄日趋加重的致病因素。在治疗时强调不只满足于切除突出的椎间盘,应沿神经通道探查,清除一切卡压神经根的病变组织才能获得较好的治疗效果。我们随访197例,平均随访3a,优良率935%。 相似文献
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The normally expressed κ immunoglobulin light chain gene repertoire and somatic mutations studied by single-sided specific polymerase chain reaction (PCR); frequent occurrence of features often assigned to autoimmunity 下载免费PDF全文
L JUUL L HOUGS V ANDERSEN A SVEJGAARD T BARINGTON 《Clinical and experimental immunology》1997,109(1):194-203
The expressed human κ light chain gene repertoire utilized by healthy individuals was studied by two different single-sided specific PCR techniques to avoid bias for certain V genes. A total of 103 rearranged κ sequences from peripheral blood mononuclear cells from healthy individuals were cloned from cDNA and assigned to the Vκ and Jκ germ-line genes with the closest overall homology. The use of cDNA rather than genomic DNA focused the analysis on activated B cells rich in mRNA. Accordingly, the sequences represented the applied repertoire and almost all were somatically mutated. V genes from the Jκ-proximal duplication unit of the κ locus were almost exclusively used. A total of 65% of the sequences could be assigned to four or five genes: A27 (humkv325), L6 (Vg), L2 (humkv328), and A3 and/or A19. N additions and P nucleotides were quite common and found in 32% and 21% of the sequences, respectively. Extended CDR3s more than nine residues in length were found in 18% of the sequences, and in 71% of cases this was due to insertion of an extra proline residue. This proline was usually explained from the germ-line sequences involved. These results are in good agreement with those of previous repertoire studies using potentially V-gene-biased techniques. Thus, it is clear that restricted V-gene usage, common N and P additions, and extended CDR3 regions are normal features and not, as has been claimed, characteristics of pathological autoantibodies. 相似文献
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神经导航辅助显微手术治疗脑功能区肿瘤 总被引:6,自引:2,他引:4
目的探讨神经导航系统辅助下脑重要功能区肿瘤显微手术的治疗效果和应用价值。方法1999年12月~2002年6月应用StealthStation神经导航系统辅助切除邻近脑重要功能区肿瘤10例,对神经导航系统术中应用的优越性、精确性等进行分析。结果本组平均注册误差为(2.8±0.9)mm,肿瘤和重要解剖功能结构定位准确,肿瘤全切除率77.8%。术后神经功能未受明显影响,无手术并发症及死亡。结论神经导航系统对于切除邻近脑重要功能区肿瘤具有定位准确,动态示踪和实时导航,侵袭性小,安全、可靠等特点,有助于提高肿瘤全切率及降低手术并发症。 相似文献
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