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41.
Germline mutations in patients with familial adenomatous polyposis were analyzed by polymerase chain reaction (PCR) amplification of the adenomatous polyposis coli gene. PCR products from heterozygous patients for deletions of this gene formed four distinct bands on polyacrylamide gel electrophoresis. The four fragments were subsequently purified and both strands of each fragment were directly sequenced, using an automated DNA sequencer and the same primers as those for PCR amplification. It was found that the two slower migrating fragments were “bulge” heteroduplexes, while the other two were homoduplexes made up of two wild-type strands and two deletion-mutant strands, respectively. The sites of deletions in the adenomatous polyposis coli gene could be exactly determined in four of the five patients. In an attempt to identify deletion-carriers of familial adenomatous polyposis at the presymptomatic stage, a family study was also carried out, and two children were found to have the same mutations as those of their affected parents. The direct sequencing of heteroduplex fragments generated during PCR amplification is a potentially useful method for detecting mutations of not only the adenomatous polyposis coli gene but also many other genes of genetic diseases. © 1993 Wiley-Liss, Inc.  相似文献   
42.
Fiber tracking allows the in vivo reconstruction of human brain white matter fiber trajectories based on magnetic resonance diffusion tensor imaging (MR-DTI), but its application in the clinical routine is still in its infancy. In this study, we present a new software for fiber tracking, developed on top of a general-purpose DICOM (digital imaging and communications in medicine) framework, which can be easily integrated into existing picture archiving and communication system (PACS) of radiological institutions. Images combining anatomical information and the localization of different fiber tract trajectories can be encoded and exported in DICOM and Analyze formats, which are valuable resources in the clinical applications of this method. Fiber tracking was implemented based on existing line propagation algorithms, but it includes a heuristic for fiber crossings in the case of disk-shaped diffusion tensors. We successfully performed fiber tracking on MR-DTI data sets from 26 patients with different types of brain lesions affecting the corticospinal tracts. In all cases, the trajectories of the central spinal tract (pyramidal tract) were reconstructed and could be applied at the planning phase of the surgery as well as in intraoperative neuronavigation.  相似文献   
43.

Introduction

The usage of formalin-fixed paraffin embedded (FFPE) tissue is characterized by its long shelf-life and simple handling. Therefore it is the most commonly available tissue specimen in routine diagnostics and histological studies. Formaldehyde fixation may result in RNA degradation and cross linking with proteins, while storage conditions also affect RNA integrity. The present study was designed to investigate the influence of these factors on RNA analysis.

Design

FFPE-derived RNA from sections of 23 patients with spontaneous pneumothoraxes was used. Unstained sections of FFPE tissue were stored at various temperatures (?80?°C, ?20?°C, 4?°C, 24?°C) prior to RNA extraction. The potential impact on RNA quality of semi-automatic and manual RNA isolation and three different deparaffinization agents (mineral oil, xylene and d-limonene) were compared.

Results

The storage temperature of FFPE sections affects RNA concentration and fragmentation, with the optimal storage temperature below -20?°C. The RNA extracted with d-limonene shows equivalent quality to the RNA extracted using more toxic standard agents. The manual isolation provides a higher RNA yield compared to the semi-automatic isolation. However, no differences in the amount of longer RNA fragments were observed. Furthermore, the semi-automatic isolation showed an enhanced RNA quality.

Conclusion

FFPE sections not directly used for RNA extraction should be stored below -20?°C to increase quality and yield of the RNA. Usage of semi-automatic isolation produces superior results and simplifies routine processes by having less hands-on-time. Replacement of toxic xylene by d-limonene may contribute to improved occupational safety while not influencing analytical results.  相似文献   
44.
外科手术计算机辅助导航技术   总被引:10,自引:0,他引:10  
外科手术计算机辅助导航即利用计算机图形图像技术对放射影像学资料进行处理 ,重建二维或三维的医学图像模型 ,同时结合各种空间定位技术 ,在医师的双眼、手术工具及患者的头部之间建立一个实时的环路 ,实现手术过程中器械位置的实时或准实时显示。我们综述了外科手术计算机辅助导航系统的发展历史和研究现状 (重点阐述了其系统结构和关键技术 ,包括空间定位技术、图像处理与显示技术、系统配准技术、头部定位技术等 (最后给出了手术导航系统的发展趋势  相似文献   
45.
Two forms of spatial navigation, piloting using external cues and dead reckoning using self-movement cues, are manifest in the outward and homeward trips of adult rats exploring from a home base. Here, the development of these two forms of spatial behavior are described for rats aged 14-65 days using a new paradigm in which a huddle of pups or an artificial huddle, a small heat pad, served as a home base on an open circular table that the rats could explore. When moving away from both home bases, the travel distance, path complexity, and number of stops of outward trips from the home base increased progressively with age from postnatal day 16 through 22. When returning to the home bases, the return trips to the home base were always more direct and had high travel velocities even though travel distance increased with age for the longest trips. The results are discussed in relation to the ideas that: (1) the pups pilot on the outward portion of their excursion and dead reckon on the homeward portion of their excursion, and (2) the two forms of navigation and associated spatial capacity are interdependent and develop in parallel and in close association with locomotor skill.  相似文献   
46.
47.
目的探讨长程体外反搏对高胆固醇血症猪血清中高级氧化蛋白产物(AOPP)和高敏C反应蛋白(hs-CRP)的影响.方法 18头雄性乳猪随机分为正常饲养组(n=6)、高脂饲养组(n=6)及高脂饲养+体外反搏组(n=6).后2组通过高脂饲养复制高胆固醇血症猪模型并对高脂饲养+体外反搏组进行36 d共36 h的长程增强型体外反搏.分别于分组饲养前、反搏前、反搏中期和反搏结束时留取3组动物静脉血,采用分光光度法检测血清AOPP浓度,采用乳胶凝集反应法检测血清hs-CRP浓度.结果高脂饲养组和高脂饲养+体外反搏组经高脂饲养后血清总胆固醇和低密度脂蛋白明显升高(P<0.05).血清AOPP和hs-CRP浓度在分组饲养前组差异无统计学意义(P>0.05).反搏前、反搏中期和反搏结束时,高脂饲养组与高脂饲养+体外反搏组血清AOPP和hs-CRP浓度较正常饲养组同时期均有显著增高(P<0.05);而反搏中期和反搏结束时高脂饲养+体外反搏组血清AOPP浓度较高脂饲养组显著降低[(95.38±12.66)μmol/L比(128.46±12.55)μmol/L;(85.78±10.33)μmol/L比(158.22±16.32)μmoL/L,P<0.05];且反搏中期和反搏结束时高脂饲养+体外反搏组血清hs-CRP浓度较高脂饲养组也有显著降低[(0.47±0.14)mg/L比(0.62±0.32)mg/L;(0.47±0.16)mg/L比(0.59±0.43)mg/L,P<0.05].结论 AOPP和hs-CRP参与了高胆固醇血症猪的发病过程.长程体外反搏可能通过减轻机体体内氧化应激和微炎性反应过程,从而阻止高胆固醇血症的病理生理进程.  相似文献   
48.
目的为提高晚期肺癌患者的外科手术切除率及提高手术疗效,总结18例晚期肺癌患者手术治疗中切开心包处理肺静脉或切除部分左心房的经验。方法对18例晚期肺癌患者施行肺叶或全肺切除时,在心包内处理肺静脉或切除部分左心房。左肺下叶切除5例、左全肺切除3例、右肺中下叶切除4例、右肺下叶切除4例、右全肺切除2例;术中发现13例患者的肺静脉根部有癌侵犯或有癌栓,在心包外元法常规处理肺静脉,在切开心包后可较满意地处理肺静脉,切开心包后发现其中有9例明显有左心房侵犯,行肺切除的同时切除部分左房;5例虽可在心包外处理,但癌肿离肺静脉根部太近处理肺静脉困难,而切开心包后处理肺静脉很轻松。结果18例均无手术死亡,术后有2例发生心律失常,2例并发肺炎,1年生存率61.2%(11/18)、3年生存率38.8%(7/18)、2例生存〉5年。结论晚期肺癌累及肺静脉根部或左心房时应切开心包处理肺静脉或同时切除部分左心房以达到肿瘤学上的根治性切除,从而延长病人的寿命。  相似文献   
49.
The Morris navigation task is widely used to study spatial abilities in rodents; namely, to analyze the effects of mutations in genetically engineered mice. Although quantitative and Mendelian genetic studies have shown that the variation of these abilities is partly under genetic control, little is known about these genetic factors. In order to analyze the genetic architecture of spatial navigation in mice, a wide genome scan was performed to map the QTLs that control various aspects of the performance, using the RI strain methodology. Latencies to locate the submerged platform across learning sessions and performance to the spatial probe test were analyzed in the 26 strains of the B × D RI series. Both cluster analysis of behavioral measurements and QTL mapping confirmed previous data showing that the escape latencies and the spatial bias rely on two distinct components of the task, controlled by different loci. A QTL on chromosome 1 influenced escape latencies during the four training sessions, whereas another QTL, located on chromosome 5, was shown to control spatial performance at the probe trial and also exhibited epistatic interactions with two other QTLs on chromosomes 2 and 13. The function of these QTLs is examined in the broader context of hippocampal-dependent learning processes and in relation to QTLs already found in similar positions in other behavioral traits.  相似文献   
50.
林萍  刘静  张雨萌  吴皓 《现代预防医学》2022,(11):2092-2096
目的 评估姑息关怀服务对癌症晚期患者生命质量的影响并提出管理建议。方法 采用问卷调查的方式对H医院接受姑息关怀治疗和常规抗癌治疗的248名癌症晚期住院患者的生命质量进行调查。选取中国癌症患者生命质量量表对癌症晚期患者的生命质量进行评估,然后通过统计分析探讨不同治疗方式下患者生命质量的差异。结果 癌症晚期患者生命质量普遍较差(36.38±4.82),其中躯体症状得分最低,依次是精神心理和社会关系。接受姑息关怀后患者生命质量及各指标得分均有显著提高。治疗前生命质量更差、疼痛程度更高的姑息关怀组患者,其治疗后的生命质量评分与常规抗癌组患者相比无显著差异,疼痛程度更是低于常规抗癌组。两组治疗方式下患者生命质量治疗前后的差值对比(6.82±2.71 vs 2.53±2.95),姑息关怀组的改善效果更明显(t=11.908,P<0.05)。结论 姑息关怀治疗相对于常规抗癌治疗,对癌症晚期患者生命质量的改善效果更为显著,应加强对以价值为核心的姑息关怀服务模式的宣传和推广。  相似文献   
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