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。     

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.     

HBCOD-1型COD在线自动监测仪的应用

介绍了HBCOD-1型COD在线自动监测仪的测定原理、分析流程和性能特点。仪器采用重铬酸钾氧化水中有机物和还原性无机物，通过分光光度法测定水中化学耗氧量（COD值）。与国标方法进行线性回归校正后，仪器测定值与国标方法测得的CODCr，值具有较好的一致性。     

分光光度法测定水样中铬

在ｐＨ４．４ＨＡＣ－ＮａＡｃ缓冲介质及乳化剂ＯＰ存在下，Ｃｒ６＋与二溴羟基苯基荧光酮（ＤＢＨＰＦ）显色反应生成桔红色络合物．该络合物最大吸收位于４８２ｎｍ波长处，表现摩尔吸光系数εｍａｘ＝３．４７×１０４．络合物配位比为Ｃｒ６＋：ＤＢＨＰＦ＝２：３，Ｃｒ６＋在０－１６μｇ／２５ｍＬ范围内遵守比耳定律．方法已用于水样中微量铬的测定，结果满意．     

海洋现代沉积速率~（210）Pb－~（210）Bi法的射线测定研究

本文主要介绍了用~（２１０）Ｐｂ─~（２１０）Ｂｉ法测定海洋现代沉积速率和数据处理方法的研究。该方法测定的结果与~（２１０）Ｐｂ─~（２１０）Ｐｏ法和阴离子交换－ＥＤＴＡ纯化－硫酸钡镭沉淀－α计数法（简称~（２２６）Ｒａ法）以及厦门大学海洋系经研究改进的分离、纯化~（２１０）Ｐｂ的离子交换法的测定结果相当吻合。     

萃取分光光度法测定工业废气中的游离溴

用萃取分光光度法测定工业废气中的游离溴，并对样品的采集与保存，萃取条件的选择进行了研究。结果表明，当溴的含量在１８．０－４５０．０μｇ／ｍＬ范围同时，吸光度与浓度具有良好的线性关系，方法的采样效率大于９９％，精密度和准确度较好当采集气体为１００Ｌ时，最低检出肖度为０．１４ｍｇ／ｍ＾３。     

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.     

Maternal serum thyroid antibodies in early pregnancy and fetal Down's syndrome

Thyroid antibodies were measured in mid-trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme-linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut-off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut-off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.