Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Prenatal diagnosis of endocardial fibroelastosis

In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Prenatal diagnosis of cystic fibrosis using linked DNA probes

This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.     

中美煤矿安全比较与借鉴

中国和美国都是煤炭生产和消费大国,但是中国的煤矿安全却与美国存在巨大差距。笔者首先从两国历年来煤矿安全数据分析入手,认为:美国煤矿安全经历了严重恶化、小幅波动和安全稳定3个阶段;而中国的煤矿经历了改革开放前大起大落和其后的小幅波动两个阶段,迄今为止,还没有进入安全稳定时期。然后从法规、监察、采矿权、安全投入、矿工及工会、教育及培训、科技进步等7个方面对两国的煤矿安全进行了比较。最后,借鉴美国进入第3阶段的成功经验,提出一些改善中国煤矿安全的相应对策建议,如完善法规、加强监管、明晰采矿权、设立安全投入预算资金、改善矿工的弱势地位、加强教育与培训、依靠科技进步等。     

Validation of Bacteroidales-based microbial source tracking markers for pig fecal pollution and their application in two rivers of North China

• Pig feces is the predominant excrement produced by animal husbandry in China. • The PF, Pig-1-Bac^TaqMan, and Pig-2-Bac^TaqMan MST assays showed better performance. • The pig-specific MST assays can contribute to managing the pig fecal pollution. In China, pig feces is the predominant source of excrement produced by animal husbandry. Improper use or direct discharge of pig feces can result in contamination of natural water systems. Microbial source tracking (MST) technology can identify the sources of fecal pollution in environmental water, and contribute to the management of pig fecal pollution by local environmental protection agencies. However, the accuracy of such assays can be context-dependent, and they have not been comprehensively evaluated under Chinese conditions. We aimed to compare the performance of five previously reported pig-specific MST assays (PF, Pig-Bac1^SYBR, Pig-Bac2^SYBR, Pig-1-Bac^TaqMan, and Pig-2-Bac^TaqMan, which are based on Bacteroidales 16S rRNA gene markers) and apply them in two rivers of North China. We collected a total of 173 fecal samples from pigs, cows, goats, chickens, humans, and horses across China. The PF assay optimized in this study showed outstanding qualitative performance and achieved 100% specificity and sensitivity. However, the two SYBR green qPCR assays (Pig-Bac1^SYBR and Pig-Bac2^SYBR) cross-reacted with most non-pig fecal samples. In contrast, both the Pig-1-Bac^TaqMan and Pig-2-Bac^TaqMan assays gave 100% specificity and sensitivity. Of these, the Pig-2-Bac^TaqMan assay showed higher reproducibility. Our results regarding the specificity of these pig-specific MST assays differ from those reported in Thailand, Japan, and America. Using the PF and Pig-2-Bac^TaqMan assays, a field test comparing the levels of pig fecal pollution in rivers near a pig farm before and after comprehensive environmental pollution governance indicated that pig fecal pollution was effectively controlled at this location.     

输美轮胎特保案对中国贸易的影响及对策

分析了2009年9月26日美国对中国轮胎进口实施的特别保护措施,运用国际贸易和国际经济学的相关理论,对美国轮胎特保法案进行了剖析。在目前中美轮胎贸易情况下,从宏观和微观的角度探讨了轮胎贸易顺差形成的原因,以及长期和短期内对中国经济的影响,并对中国轮胎出口贸易提出了几点政策建议。     

美国地震风险评估中灾害模型的探讨

介绍了以美国地震灾害模型为例的地震风险评估在金融保险业和土木工程两大领域的应用,回顾了地震灾害风险评估发展的历史背景,其中,金融保险业的模型更测重于对历史理赔数据的分析,土木工程业的模型则注重于对工程结构的分析。着重探讨了评估模型中地震灾害部分的建立,其中包括致灾因子模块及孕灾环境模块。针对建模中致灾因子、孕灾环境等的关键要素,如地震源及震级、地震衰减方式、场地土壤土质条件、地震复发率等,作了分析及归纳总结,并系统地介绍了所涉及要素的数据信息获取过程及对应的建模方法,进一步探讨了相应的风险量化的步骤和方法。     

Cascade-based attack vulnerability on the US power grid

The vulnerability of real-life networks subject to intentional attacks has been one of the outstanding challenges in the study of the network safety. Applying the real data of the US power grid, we compare the effects of two different attacks for the network robustness against cascading failures, i.e., removal by either the descending or ascending orders of the loads. Adopting the initial load of a node j to be L_j=[k_j(Σ_mΓjk_m)]^α with k_j and Γ_j being the degree of the node j and the set of its neighboring nodes, respectively, where α is a tunable parameter and governs the strength of the initial load of a node, we investigate the response of the US power grid under two attacks during the cascading propagation. In the case of α<0.7, our investigation by the numerical simulations leads to a counterintuitive finding on the US power grid that the attack on the nodes with the lowest loads is more harmful than the attack on the ones with the highest loads. In addition, the almost same effect of two attacks in the case of α=0.7 may be useful in furthering studies on the control and defense of cascading failures in the US power grid.     

中美职业安全健康法对比

通过对中美职业安全健康立法目的和背景的考察,对比分析职业安全健康法涉及的6项具体内容,即体例结构、适用范围、监管方式、监管体制、教育与培训、法律责任,并指出国情不同是造成中美职业安全健康法立法巨大差异的原因之一。经对比分析,可得出几点结论:从中国国情出发,走逐步完善的职业安全健康立法路径,建立独立的职业安全健康法律体系,是我国安全生产的治本之策;对从业人员的职业安全健康保护具有首要性,须明晰保护劳动者的上层法律要求,《安全生产法》并不能代替《职业安全健康法》;完善中国职业安全健康法律制度须走一体化整合的道路。