Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay

Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.     

The recycling cycle of materials as a design project tool

Currently, a large number of companies consider recycling of materials as an opportunity to maximize profits and to reduce the environmental impact generated by these materials after they are disposed. However, there is also a strong constraint on the use of recycled materials mainly due to the lack of technical/scientific information, which would relate their physical properties to their recycling cycle. This information should be used in the initial phase of the product design to serve as reference for the simulation of a project to point out the physical properties obtained from recycling the Projected material (Pm). Thus, it would be possible to foresee some recycling strategy to keep the good characteristics of recycled materials by encouraging their use, regardless of the product to be designed.Therefore, the Recycling Cycle of Materials (RCM) is a tool that provides scientific/technical support in the selection of materials. It uses the information related to the physical properties of the Pm as a parameter for product design after five recycling cycles. For the case study, this tool has been applied to obtain the basic material of ABS/PC blend. Subsequently, this blend was evaluated using DSC, FTIR, traction and impact methods to obtain delimiting data for the definition of the mechanical properties resulting from the application of RCM.     

具有危险源性质的复杂系统安全行为演化研究

为解决具有危险源性质的复杂社会技术系统安全行为演化动力机制问题,针对系统生命周期长、影响因素多的特点,以日本福岛核泄漏事故为例,创建扩展型功能共振模型,用于描述系统内安全事故影响因素的作用过程。而后将系统相关主体分为实施方、业主方和第三方共3类,运用演化博弈方法深入研究发现,三方所承担的安全执行成本、安全处罚成本及事故成本之间的数量关系变化是系统安全行为演化发展的动力,3类成本失衡引发的监管机制失效是导致此次核泄漏事故的根源,并据此提出保持政府独立性和权威性、限制业主行为、建立项目责任主体终生追溯机制和采用立体处罚方式的建议。     

Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Prenatal ultrasound diagnosis of Apert's syndrome

A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16–17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Sanfilippo D syndrome: Correction of glucosamine-6-sulphatase deficiency following fibroblast culture in chang's media

The de-O-sulphation of α-linked glucosamine-6-sulphate residues in heparan sulphate requires a specific sulphatase, glucosamine-6-sulphatase, which has been shown to be deficient in tissues of Sanfilippo D, or mucopolysaccharidosis type IIID (MPS IIID), patients. MPS IIID fibroblasts cultured in Basal Eagle's medium supplemented with either fetal calf serum or heat-inactivated fetal calf serum, MDCB or Ultraserg media had residual glucosarnine-6-sulphatase activities towards a heparin-derived trisaccharide substrate, O-(α-N-acetylglucosamine-6-sulphate)-(1→4)-L -O-(α-iduronic acid-2-sulphate)-(1→4)-D -O-2,5-anhydro [1-³H]mannitol-6-sulphate, GlcNAc6S-IdoA2S-anM6S, which were less than 1 per cent of the normal range for fibroblasts cultured in Basal Eagle's medium supplemented with fetal calf serum. However, the glucosamine-6-sulphatase activities of MPS IIID fibroblasts grown in Chang's medium were similar to the activities in normal control fibroblasts which were cultured in Basal Eagle's medium. These results indicate that caution is required for prenatal diagnosis of MPS IIID patients using chorionic villi or amniotic cells cultured in Chang's medium.     

利用16s rDNA方法检测刺参消化道细菌种类

以2007年7月采自大连瓦房店养殖厂的刺参为实验材料,通过对刺参肠道中的细菌16s rDNA V3区基因进行扩增、克隆测序及序列同源性分析,对其种类进行初步研究。本研究测序获得11条16s rDNA V3区基因序列,并进行Blast同源比对,确定序列同源性,分析出11种细菌,三种梭菌属(Clostridium)细菌,两种为假单胞菌属细菌(Pseudomonas),一种产丙酸菌属细菌(Propionigenium),一种为金黄色葡萄球菌(Staphylococcus aureus),有六种细菌分别与4种不可培养的未命名细菌同源,并根据测序结果建立系统发生树。本研究提供了一种检测海洋微生物的方法,为刺参病害诊断提供科学依据,为海洋微生物资源的开发和新种的发现提供了资料。     

Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid

A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY,—14,+t(13ql4q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.     

石首麋鹿国家级自然保护区多媒体演示系统的研究

本文利用计算机多媒体技术 ,研制出石首麋鹿国家级自然保护区多媒体演示系统。该系统以 WINDOWS98窗口环境为平台 ,融图、文、声、像、数据库、动画等多种媒体于一体 ,将先进的图像处理技术、声音处理技术、文字处理技术、视频处理技术、以及三维动画技术集成到计算机中 ,可使原本单调的静态材料变成有声有色的动态画面 ,全方位展示该保护区的历史、现状与未来