Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques

Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.     

防X射线纤维及织物的研制与性能研究

通过将重金属化合物微粉与聚合物熔融共混后纺丝的方法， 可研制出具有Ｘ射线屏蔽性能的防Ｘ射线纤维，并可进一步加工成织物。本文研究了防Ｘ射线纤维和织物的制造方法和性能特点，结果表明，这种织物具有良好的对低能Ｘ 射线的防护功能，有广阔的应用前景     

Prenatal diagnosis of triple X using fetal cells obtained by endocervical lavage

Prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by lavage of the endocervical canal prior to amniocentesis, following ultrasound diagnosis of hydrops fetalis. Copyright © 2003 John Wiley & Sons, Ltd.     

新一代X荧光仪在河流底质监测中的应用研究

文章主要介绍了新一代能量色散型X荧光分析仪在地面水监测(河流底质监测)中的应用研究。通过对成都市两条主要河流——府河和沙河部分河段中底泥沉积物现场取样分析样品中As、Cu、Cr、Pb、Cd等元素含量,并利用地质累积指数法对两条河流取样段的重金属污染的现状和水平进行了初步评价,验证了X荧光分析方法作为一种快速分析手段在地面水监测中应用的可行性。     

Regeneration of 2-amino-2-methyl-1-propanol used for carbon dioxide absorption

To improve the efficiency of the carbon dioxide cycling process and to reduce the regeneration energy consumption, a sterically hindered amine of 2-amino-2-methyl-1-propranol (AMP) was investigated to determine its regeneration behavior as a CO_2 absorbent. The CO_2 absorption and amine regeneration characteristics were experimentally examined under various operating conditions. The regeneration efficiency increased from 86.2% to 98.3% during the temperature range of 358 to 403 K. The most suitable regeneration temperature for AMP was 383 K, in this experiment condition, and the regeneration efficiency of absorption/regeneration runs descended from 98.3% to 94.0%. A number of heat-stable salts (HSS) could cause a reduction in CO_2 absorption capacity and regeneration efficiency. The results indicated that aqueous AMP was easier to regenerate with less loss of absorption capacity than other amines, such as, monoethanolamine (MEA), diethanolamine (DEA), diethylenetriamine (DETA), and N-methyldiethanolamine (MDEA).     

Low level radioactivity measurements with phoswich detectors using coincident techniques and digital pulse processing analysis

A new system has been developed for the detection of low radioactivity levels of fission products and actinides using coincidence techniques. The device combines a phoswich detector for alpha/beta/gamma-ray recognition with a fast digital card for electronic pulse analysis. The phoswich can be used in a coincident mode by identifying the composed signal produced by the simultaneous detection of alpha/beta particles and X-rays/gamma particles. The technique of coincidences with phoswich detectors was proposed recently to verify the Nuclear Test Ban Treaty (NTBT) which established the necessity of monitoring low levels of gaseous fission products produced by underground nuclear explosions. With the device proposed here it is possible to identify the coincidence events and determine the energy and type of coincident particles. The sensitivity of the system has been improved by employing liquid scintillators and a high resolution low energy germanium detector. In this case it is possible to identify simultaneously by alpha/gamma coincidence transuranic nuclides present in environmental samples without necessity of performing radiochemical separation. The minimum detectable activity was estimated to be 0.01 Bq kg(-1) for 0.1 kg of soil and 1000 min counting.     

HNK-1 immunoreactivity during early morphogenesis of the head region in a nonmodel vertebrate,crocodile embryo

The present study examines HNK-1 immunoidentification of a population of the neural crest (NC) during early head morphogenesis in the nonmodel vertebrate, the crocodile (Crocodylus niloticus) embryos. Although HNK-1 is not an exclusive NC marker among vertebrates, temporospatial immunoreactive patterns found in the crocodile are almost consistent with NC patterns derived from gene expression studies known in birds (the closest living relatives of crocodiles) and mammals. In contrast to birds, the HNK-1 epitope is immunoreactive in NC cells at the neural fold level in crocodile embryos and therefore provides sufficient base to assess early migratory events of the cephalic NC. I found that crocodile NC forms three classic migratory pathways in the head: mandibular, hyoid, and branchial. Further, I demonstrate that, besides this classic phenotype, there is also a forebrain-derived migratory population, which consolidates into a premandibular stream in the crocodile. In contrast to the closely related chick model, crocodilian premandibular and mandibular NC cells arise from the open neural tube suggesting that species-specific heterochronic behavior of NC may be involved in the formation of different vertebrate facial phenotypes.     

室温Fenton反应过程H2O2有效利用率的影响因素研究

Fenton反应是H2O2在Fe^2＋催化作用下产生氧自由基并氧化污染物的高效方法。但影响Fenton反应过程H2O2分解及其有效利用率的因素是很多的,其中[Fe^2＋]要求控制在3mmol／L以上。酚类体系H2O2的有效利用率不受H2O2浓度变化的影响,但受初始COD的影响,一般表现为随COD的增加,H2O2有效利用率迅速增加。当初始COD一定时,H2O2浓度在600mg／L和1800mg／L时,一元酚与二元酚体系的H2O2有效利用率均出现了两个峰值,前者的峰值分别为11．83gCOD／gH2O2和12．99gCOD／gH2O2,后者的峰值分别为9．01和11．95gCOD／gH2O2。而醇类体系H2O2的有效利用率受H2O2浓度的影响较大,但与初始COD的关系不明显。当H2O2浓度低于300mg／L时,乙醇比对照体系H2O2的分解率高1-3％,而有效利用率仅为0．6gCOD／gH2O2;随H2O2用量的继续增加,其有效利用率趋于0gCOD／gH2O2。而二元醇体系H2O2有效利用率与其浓度间呈“倒U”型规律,H2O2低于300mg／L时,其有效利用率仅为1．25gCOD／gH2O2;H2O2浓度在300mg／L～900mg／L之间时,其有效利用率可达8．96gCOD／gH2O2;其后随着H2O2的增加,有效利用率迅速下降到与乙醇体系相当。在混合体系中,醇羟基和酚羟基所占比例对H2O2有效利用率也有显著的影响,当乙醇比例小于60％时,H2O2有效利用率稳定在13．0gCOD／gH2O2;随乙醇比例的增加,其对H2O2的分解抑制效应表现出剂量依赖关系,H2O2有效利用率也逐渐下降到近于0gCOD／gH2O2,说明这部分H2O2并没有得以有效地分解用于氧化废水中的COD,这在工程实践中应引起高度的重视。     

浅谈N-（1-萘基）-乙二胺二盐酸盐对苯胺类测定的影响

实验就N-（1-萘基）-乙二胺二盐酸盐对苯胺类测定的影响进行探讨,结果表明,测定低浓度苯胺类样品时,N-（1-萘基）-乙二胺二盐酸盐的品质对测定产生重要影响,所以测定低浓度苯胺类样品时建议采用进口N-（1-萘基）-乙二胺二盐酸盐进行分析。