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.     

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.     

渤海江豚组织中钠,钙,锶,镁,磷,钾的研究

１９９０年，作者于辽东湾采集了１０头江豚标本，分别测定了其骨骼、皮肤、肌肉、肝脏、肺、肾、心、胃、肠、胰、脾、肾上腺及生殖腺等１３种组织中Ｃａ、Ｓｒ、Ｍｇ、Ｐ、Ｋ、Ｎａ６种元素的含量，详细分析了骨骼及其他各组织中的Ｃａ／Ｍｇ值、Ｃａ／Ｋ值、Ｃａ／Ｐ值、Ｃａ／Ｎａ值和Ｃａ／Ｓｒ×１００值。结果表明，Ｃａ、Ｓｒ、Ｍｇ、Ｐ，Ｋ在骨骼中累积率最高，钾在肌肉中具有高累积，Ｓｒ、Ｃａ在肌肉中累积率最低；Ｍｇ累积率最低的组织是生殖腺，Ｐ累积率最低的组织是肠，而Ｋ在骨骼中，Ｎａ在肌肉中的累积率均高于其他组织。分析结果还显示，Ｃａ／Ｍｇ值最高的是骨骼，最低为肌肉，Ｃａ／Ｐ值最高的是骨骼，最低的是肌肉和胰脏，Ｃａ／Ｋ值最高为骨骼，最低为脾Ｃａ／Ｓｒ×１００值最高为肺、最低为肠，而Ｋ／Ｎａ值最高为肌肉，最低为骨骼，在骨中Ｃａ／Ｐ值大约为１，类同于猫和人类。     

Quantitative structure-property relationship of aromatic sulfur-containing carboxylates

IntroductionItiswidelyrecognizedthatthephysicochemicalprofileoforganicchemicalslargelydeterminestheirdistributionbetweenenvironmentalmedia .Fortheenvironmentalbehaviorsoforganiccontaminants,watersolubility(SW)andoctanol waterpartitioncoefficient(KOW)aretremendouslyimportant.Octanol waterpartitioncoefficienthasbeenwidelyrelatedtobiochemicaland orbiologicalactivityinquantitativestructure activityrelationships(QSARs) (Leo ,1 971 ) .Watersolubilitycorrespondstothedispersiontendencyandtothereca…     

秦山核电站邻近水域海水光的穿透性能变化研究

本文运用水体可见光的传输机理，讨论了光的传输特性与水中悬浮泥沙，色素和黄色物质的定量关系。同时简述了在秦山核电站邻近海域１９９５年１０月￣１９９６年７月间４个航次的有关水光学特征现场测量过程和实验室分析方法。最后，通过水体中太阳光透透深度和真空层，研究了该邻近海域的光穿透性能的季节性变化。研究表明，核电站运行以来，秦山核电站邻近海域水的光穿透性能变化很小。     

地理变异系数法和Fisher最优分割法在环境空气监测优化布点中的应用

在环境空气监测点位优化中,为反映优化后点位的整体代表性,需要在允许的测定误差内以最少的测点反映区域内较长时期的整体污染水平、污染分布状况和污染趋势.本文以博山城区为例,利用地理变异系数法和Fisher最优分割法对所布设点位进行数理统计.该方法使用简便,分级自然,避免了诸多人为因素的影响,同时,优选结果具有较强的整体代表性.     

淮河流域多闸坝河流COD综合衰减系数测算

提出在多闸坝河流上，利用枯水期断面化学需氧量同步监测数据测算COD综合衰减系数的方法，用该方法测算河南省辖河流域部分河流COD综合减系数在0．08－0．341/d。并用实际监测结果进行检验。     

冷拉螺旋叶片展开的精确算法

提出了一种新的、更趋精确合理的关于冷拉螺旋叶片坯料的展开与放样计算方法 ,并从实践中探索出叶片在展开与放样时其内径的精确修正系数k之值。     

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.     

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.