Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

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.     

川西北哲波山微细浸染型金矿床岩浆岩特征

对川西北哲波山金矿区内出露的中 -酸性岩脉、岩株的类型、化学成分、地质特征以及微量元素、同位素、稀土元素等特征进行了研究 ,指出印支晚期和燕山早期的岩浆岩均属钙碱质岩系列 ,均起源于幔壳混源区 ,原始岩浆在成分上和演化上又存在着一定的差异性。岩浆岩为成矿提供了一定的物质基础。     

废旧家电产品回收性能评价指标体系的建立

针对家电产品回收工艺流程决策评价的多阶段、多目标的特点,以及不同类型家电产品和不同回收工艺过程的动态特性,采用层次分类方法建立了以经济指标和环境指标为主要内容的回收工艺流程评价指标体系,对指标体系的组成进行了较为详细的分析,讨论了应该考虑的因素及有关计算方法。以电冰箱为例,用改进的模糊层次分析法与遗传算法相结合,介绍了回收工艺流程的优化决策方法。建立的指标体系不仅可以根据评价对象进行动态修改,而且具有较强的可操作性。     

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.     

高频电磁辐射防护材料的研究

电磁污染已经成为一种不容忽视的全球性社会公害。因此，本文通过测量多种材料在不同高频电磁场源（即高频设备）和不同距离时对高频电磁场的屏蔽效率，获得了大量数据，并对所测数据用最小二乘法进行拟合处理，绘出了这些材料在不同高频场源下的屏蔽效果曲线。经分析，筛选出经济实用的高频近区场个人防护材料，具有推广应用的价值。     

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.     

辽宁省环境区划方法和分区系统

根据全省自然环境和社会环境结构特征、分异规律、所存在的主要环境问题,依据区内相似性与区间差异性的基本原则,进行了三个层次的三级环境区划。研究各环境区的环境结构、环境特征与环境灾害、环境污染等问题之间的内在联系;揭示生态环境失调与人类生产活动之间的相互关系;探讨各环境区经济发展的环境负荷以及今后发展方向与途径;提出各环境区主要环境问题及其相应的防治、管理对策。     

Prenatal diagnosis of mosaic trisomy 9

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.