A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

Until now, the study of the multiple endocrine neoplasia type 1 (MEN1) gene in patients suspected of having the disease was expensive and laborious due to the large size of the gene. We have optimized the conformation-sensitive gel electrophoresis (CSGE) technique to analyze by four rather simple multiplex PCR reactions, and a single electrophoresis run, the entire coding region of the MEN1 gene, plus the exon–intron boundaries. This improvement of the CSGE technique was confirmed as an effective procedure for screening for the MEN1 gene by detecting ten previously known MEN1 gene mutations and four polymorphisms. The MEN1 gene of 12 patients with unknown mutations was then screened, and an abnormal CSGE profile was identified in 10/12 cases. Subsequent DNA sequencing demonstrated 3 of them to be novel mutations (E45K, 4479delACAG, 6073insC) and 7 to have been previously reported; in the remaining 2 patients, we confirmed the absence of any alteration of the coding sequence of MEN1. Mutation screening of the MEN1 gene using CSGE was demonstrated to be a fast, simple, and inexpensive method to study patients suspected of having MEN1 disease. Received: November 29, 2001 / Accepted: January 28, 2002     

To what extent is the tibia-calcaneum angle a reliable measurement of the triceps surae length? Radiological correction of the torque-angle curve (III)

Summary Previous papers gave some methods for the reliable measurement of the tibia-calcaneum angle. It is of common use to evaluate the physical properties of triceps surae on the basis of torque-angle curves. However this method is reliable only if each tibia-calcaneum angle corresponds to a defined distance between the insertions of the muscle in subjects of the same height. Evidence is given by radiological measurements that this correspondance is correct in normal children. However, this is no longer true in certain cerebral palsied children because of abnormal translation of the calcaneum and/or abnormal ratio of bone sizes. In this case the torque-angle curves do not define properly the torque-length curves. A method of correction is given. This correction may be as high as 15.MaÎtre de Recherche INSERM (Paris), grant No. 7411766 and U.E.R. Paris-Ouest     

Program for generation of three-dimensional finite element mesh from magnetic resonance imaging scans of human limbs

A PC-AT based program for conversion of magnetic resonance imaging (MRI) scans into coordinate input for finite element mesh generation is presented. The program is written in Borland C + +3.1 and is compatible with every general-use personal computer, permitting the use of MS-DOS 3.0 or higher with a Microsoft mouse. The program is menu driven and does not demand specialised knowledge from the user. The system and memory requirements are minimal -- 640 kB RAM -- and it runs as a stand-alone program. A second program allows the construction of a three-dimensional representation of the limb sub-structure and generation of the FE mesh from the converted cross-sectional scans. The capabilities of the program are demonstrated using cross-sectional scans of the upper arm; the fat, muscle and bone contours were obtained to a very high level of precision (0.4 mm).     

脑内和肌内接种小鼠胶质母细胞瘤株后神经末梢的观察

本实验应用Nonidez及Glees二种镀银法,对诱发的小鼠胶质母细胞瘤株(G 422)进行了观察。脑内及肌内接种胶质母细胞瘤后,在肿瘤边缘可见大小不等的神经束,伴随或不伴随血管伸入瘤内。有的在血管周围间隙形成血管周围神经丛。这些神经纤维与肿瘤周围宿主的脑组织、皮下、毛囊和肌肉间隙的神经纤维相联系。因此我们推测肿瘤内的神经是由肿瘤周围宿主的器官组织的神经延伸来的。肿瘤边缘的神经纤维的数量多于核心区,走行于肿瘤的间质或实质,沿途不断分支,终末分布到肿瘤细胞的表面。我们观察到球形、游离分叉状、梭形、环形、树枝状、杵状及丛刷状等类型的神经末梢。以上观察表明,恶性肿瘤——小鼠胶质母细胞瘤是受神经支配的。     

Long-term ambulatory monitoring of indirect arterial blood pressure using a volume-oscillometric method

A new portable instrument equipped with a microprocessor was designed for the long-term ambulatory monitoring of indirect arterial pressure in the human finger at desired intervals using a volume-oscillometric technique. All the necessary procedures such as (1) programmed control of cuff pressure, (2) detection of the systolic end-point and the point of maximum amplitude of arterial volume pulsations, (3) reading of the cuff pressures corresponding to these two points, (4) its processing and (5) recording of the systolic and mean pressure together with heart rate on a digital memory integrated circuit were performed automatically. After the monitoring, the data were reproduced and analysed by a conventional personal computer. Simultaneous comparison of the data with direct measurement, operation and evaluation of this instrument, and ambulatory monitoring were carried out. With this instrument noninvasive and accurate monitoring of arterial pressure could be made in unrestricted subjects during daily activities.     

抗核糖体抗体阳性判断标准的探讨

目的 :分析针对分子量为 38kD和 或 15 16 5kD多肽抗原的抗核糖体抗体 (anti ribosomalantibodies)与SLE的关系 ,探讨抗核糖体抗体的阳性判断标准及其在SLE中的检出情况。方法 :收集病人血清 2 6 2例 ,包括SLE115例、RA5 7例、硬皮病 2 0例、MCTD39例及其他免疫性疾病 31例 ,用免疫印迹法 (Western blot)检测其抗ENA抗体谱。结果 :分别以同时出现 38kD和 16 5 15kD蛋白条带以及出现 38kD蛋白条带为判断抗核糖体抗体阳性的标准 ,则该抗体对诊断SLE的敏感性和特异性结果分别为 2 8 7% (33 115 )、96 6 % (14 2 14 7)及 17 4 % (2 0 115 )、97 3% (14 3 14 7) ,两者比较敏感性有显著性差异 (P <0 0 5 ) ,特异性无显著性差异 (P >0 0 5 ) ;仅 38kD分子阳性的 14例样本中 ,SLE占大多数 ,显著多于其它疾病 (71 4 %比 2 8 6 % ,P <0 0 5 ) ;38kD分子阳性同时伴抗Sm抗体阳性者多于抗Sm抗体阴性者 ,但无显著性差异 (6 4 3%比 35 7% ,P >0 0 5 )。结论 :抗核糖体抗体 38kD分子与SLE密切相关 ,而与抗Sm抗体相关性不强。以 38kD为主要抗原多肽判断抗核糖体抗体 ,不仅可以提高该抗体的阳性检出率 ,同时也不会降低其对SLE诊断的特异性 ,该判断方法值得推广应用。     

甲襞、球结膜微循环的应急观测方法

甲襞、球结膜微循环的应急观测方法是在甲襞、球结膜微循环加权积分综合定量评价方法的基础上，保留权值为４、３的指标，同时观察血管清晰度和红细胞聚集二项指标而形成。同时提供其应急观测积分表、异常分度积分值、诊断标准，并与常规方法进行比较，证明其可以反映绝大部分流态类指标和大部分形态类指标及重要的袢周改变，没有丢失微循环重度异常的信息，保证了重度异常诊断的正确。但在大致正常、轻度异常和中度异常的诊断中应急方法部有判重的倾向，说明应急方法漏掉了一些信息，不能全面地了解微循环的改变，造成了判重的倾向。因此应急方法不能代替常规方法，只能在特定条件下应用。     

Computational simulations of mitral regurgitation quantification using the flow convergence method: Comparison of hemispheric and hemielliptic formulae

Mitral regurgitation results from the incomplete closure of the mitral valve, and the noninvasive diagnosis of this disease remains an important clinical goal. In this study, steady flow computer simulations were used to evaluate flow convergence method for flow rate estimation. The hemispheric and hemielliptic formulae were compared for accuracy in the presence of complicating factors such, as ventricular confinement, orifice shape, and aortic outflow. Results showed that in the absence of aortic outflow and ventricular confinement, there was a plateau zone where the hemispheric formula approximated the true flow rate, independent of orifice shape. However, in the presence of complicating factors such as aortic outflow and ventricular confinement, there was no clear zone where the hemispheric formula could be applied. The hemielliptic formula, however, worked in, all cases, regardless of chamber size or magnitude of aortic outflow. Therefore, application of the hemielliptic formula shold be considered in future clinical studies.     

包埋前免疫电镜双标技术在神经解剖学研究中的应用

目的　在超微结构水平观察两种神经递质在纤维终末内的共存或一种神经递质与其相应受体之间的关系。　方法　包埋前免疫电镜双重标记技术———酶标法和免疫金 银标记法相结合的方法。　结果　在免疫反应双重标记的纹状体切片上 ,电镜下观察到大量的SP样 (过氧化物酶免疫反应产物 )阳性终末和SP受体 (SPR ,免疫金 银标记颗粒 )样阳性神经元的胞体和树突 ,同时可见部分SP样阳性轴突终末分别与SPR样阳性神经元的胞体或树突形成对称性轴 体或轴 树突触联系。而在三叉神经脊束核尾侧亚核切片上 ,电镜下可观察到大量的两种囊泡膜谷氨酸转运体 ,即DNPI样 (过氧化物酶免疫反应产物 )和VGluT1样 (免疫金 银标记颗粒 )阳性轴突终末 ,同时还观察到DNPI样和VGluT1样双标的轴突终末与阴性树突形成非对称性突触。　结论　包埋前免疫电镜双重标记技术敏感性较高 ,组织的抗原性保存好 ,特别是在神经解剖学研究中 ,用于研究两种神经递质在同一个细胞或终末内的共存或分析神经递质与其相应受体之间的联系中有独到之处。