Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at-risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non-paternity.     

HPLC荧光检测大气环境中苯并(a)芘及分布规律的研究

苯并(a)是强致癌物,被认为是环境中有多环芳烃类化合物存在的指标,本文使用美国光谱物理公司的高效波相色谱仪,以甲醇/水为流动相,采用spheri-5,RP-18柱及FL2000荧光检测器完成了大气颗粒物中BaP的测定,其加标回收率为91％,变异系数<5％,本方法最小检出限为0.02ng。同时,以马鞍山市大气环境中苯并(a)芘监测数据为第一手资料,对苯并(a)芘的分布状况、规律、危害作了研究。     

Identification of acetylcholinesterase and cholinesterase in amniotic fluid by immune absorption technique

A method for immunological detection of acetylcholinesterase (AChE) and cholinesterase (ChE) in amniotic fluid is described. By addition of a small amount of antihuman-erythrocyte membrane antibody or anti-pseudocholinesterase antibody to the sample before electrophoresis the two esterase bands on polyacrylamide gel (PAG) can be absorbed away. Similar staining results can also be obtained by specific inhibition of the two esterases with either BW 284C51 (AChE inhibitor) or Lysivane (ChE inhibitor). In cases with a faint AChE band and in cases with blood contamination the immune absorption technique makes interpretation easier. Nearly identical staining results have been obtained by the immune absorption technique and the inhibition technique in the following samples with an AChE band: 34 samples from pregnancies with severe fetal malformation or intrauterine death (2 cases), 4 fetal serum samples, 4 samples of cerebrospinal fluid, 4 samples of fetal erythrolysate and 4 samples of adult erythrolysate. It can be concluded that an antibody prepared against erythrocyte AChE cross-reacts with AChE in cerebrospinal fluid, and that this antibody can be used for demonstration of AChE in amniotic fluid.     

The value of sonographic diagnosis of fetal malformations: Different results between indication-based and screening-based investigations

The advantages of a routine screening or indication-based ultrasound investigation during pregnancy are still under debate. This is the first study where both methods are compared in two different time periods. More malformations were diagnosed before the 24th week of gestation by means of screening-based than indication-based investigation (18 per cent vs. 5 per cent, P<0·005), and before 28 weeks in 26 per cent compared with 15 per cent respectively (P<0·01). Twenty-six per cent of all malformations were detected by means of screening-based investigations as opposed to 15 per cent by means of indication-based scans. Primary fetal malformations were also diagnosed much earlier (25 weeks vs. 30 weeks). Except for the fetal head, the detection rate of malformations was higher in nearly all other body regions of the fetus in the screening-based investigation. The most important advantage of a screening-based ultrasound investigation during pregnancy is to detect the malformations early enough in pregnancy for possible intrauterine treatment or to offer safe termination of pregnancy for the woman, at least for those anomalies that are lethal or significantly handicapping.     

等重下料技术及其工程化应用

简要介绍了应用于大直径棒料下料的等重下料技术 ,该项技术系现代光电传感技术及计算机控制技术在传统技术领域的应用。在弹体毛坯生产线上 ,首次实现了实时、快速、准确的全自动在线下料检测和控制 ,取代了原有人工下料过程。该项技术在其它制造加工领域也具有广阔的应用前景 ,对提高劳动生产率 ,节约原材料具有重要的经济意义。     

Enhanced adsorption and colorimetric detection of tetracycline antibiotics by using functional phosphate/carbonate composite with nanoporous network coverage

This work presents efficient tetracycline (TC) antibiotics adsorption using a functional porous phosphate/carbonate composite (PCC). The PCC was fabricated by anion-exchange of phosphate on the surface of vaterite-phase calcium carbonate particle scaffolds. The PCC, having dense nanoporous network coverage with large surface area and pore volume, exhibited excellent TC adsorption in solution. Its adsorption isotherm fitted well to the Freundlich model, with a maximum adsorption capacity of 118.72 mg/g. The adsorption process was spontaneous, endothermic, and followed pseudo-second-order kinetics. From the XPS analysis, the hydrogen bonding and surface complexation were the key interactions in the process. In addition, a colorimetric TC detection method was developed considering its complexation with phosphate ions, originating from PCC dissolution, during adsorption. The method was used to detect TC in mg/L concentrations in water samples. Thus, the multifunctional PCC exhibited potential for use in TC removal and environmental remediation.     

水中阴离子表面活性剂的测量不确定度评定

简要介绍了测量不确定度的概念，运用《测量不确定度评定与表示》的技术规范，通过对阴离子表面活性剂的测定过程，分析了影响阴离子表面活性剂测量不确定度的因素，给出了相对标准不确定度分量，并具体阐明了测量不确定度的评定步骤，得出测量扩展不确定度的结果。     

空肠弯曲菌的快速检测方法研究与应用

为提高空肠弯曲菌的检测效率和检出率，应用免疫磁珠技术自行制备弯曲菌免疫磁珠，用以直接捕获受检样品中的空肠弯曲菌，不需要增菌培养；设计了检测空肠弯曲菌鞭毛蛋白A（flaA）基因的引物与荧光标记探针，首次建立了空肠弯曲菌的磁捕获-荧光聚合酶链式反应快速检测及鉴定方法．应用于实物检测的结果表明，该方法具有灵敏度高、选择性好、简便等特点，可在24h内完成检测，提高了环境样品及食品中空肠弯曲菌的检出率．图4表1参9     

无火焰泄放装置性能检测技术研究*

为有效提高无火焰泄放装置产品质量特性和应用技术,避免或减轻爆炸事故发生造成的灾害程度,选择玉米淀粉粉尘为测试粉尘,采用1 m3爆炸罐进行扇形无火焰泄放装置爆炸泄放实验。结果表明:扇形无火焰泄放装置不适合重复使用。当扇形无火焰泄放装置重复进行爆炸泄放实验时,爆炸罐内压力会呈现升高趋势,而外场压力和温度呈现下降趋势,且阻火元件孔隙内残留大量玉米淀粉粉尘燃烧后生成的炭黑以及积聚部分高温燃烧的粉尘,致使阻火元件损坏失效。     

基于深度学习的输煤皮带故障视觉检测方法研究

为了更好地检测皮带跑偏、撕裂和异物干扰等严重影响皮带安全运行的故障状态,围绕相关问题产生的原因及检测方法开展深入研究,通过对纵/横向裂缝、异物的检测分析、实验,提高基于视觉的检测精度。提出基于Canny边缘检测算法的皮带跑偏检测算法;基于深度学习的横向与纵向撕裂检测,尤其对于裂缝与纵向纹理区分不明显情况,提出一种红光透射的判别方式;基于最小距离分类算法将识别异物转换为分类问题,利用机器学习的方法对样本进行训练并建立无异物阈值,通过提取特征,最后利用最小距离分类算法得到有无异物的结果。研究结果表明:提出的视觉检测系统可以实时高效地检测出输煤皮带常见的3种故障,可进一步保障运输系统安全运行。