手传振动的危害及防护

综述了手传振动危害的现状及为减少振动危害开展的工作。对国内关于振动危害调查报告进行了汇总分析;研究了按行业、工种的分布情况并对常见的手持工具进行了振动测试及评价;对防振方面采取的措施进行了调查及分析;回顾及介绍了涉及手传振动的法规及标准     

Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)

A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three fetuses at risk for GD type III were diagnosed as homozygous for the mutation and the pregnancies were terminated. In a fourth pregnancy, one parent was excluded as being a carrier and the risk of having a child affected by GD was ignored. Direct analysis of common mutations causal to GD is now available and improves prenatal diagnosis in families where the molecular defect has been characterized.     

A retrospective survey on the effect of Kaschin-Beck disease prophylaxis by a change of water sources

In order to provide further references for studing on the causes of Kaschin-Beck discase (KBD) and measuring for its prevention and treatment from a macroscopic view, we analyzed the natural growth and declineof KBD and the effects of selenium and humic acid on its occurrence from an epidemiologic angle. In this article through a retrospective survey on the spots of disease areas by comparison between a change in water sources and that without. It was proved that a change in water sources was an effective measure for the prevention of KBD occurrence, and the pathogenic factor of KBD was one (or several kinds) of organic compounds or active radicals related to water.     

海产贝类帕金虫病害的研究进展

比较系统地介绍了国外贝类帕金虫病害的研究进展，包括帕金虫的分类地位、形态结构、生活史、检测方法、病理学、病害发生生态机理、防治技术与对策等。我国目前海产贝类病害越来越重，并且在发病贝类体内也检测到了帕金虫的存在。因此，系统阐述国外贝类帕金虫病害的研究进展，对我国海产贝类病害的研究，具有现实意义。     

Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi

Six pregnancies of three carriers for X-linked Fabry's disease, were monitored by chromosome and enzyme analysis. Two affected male fetuses were detected by the demonstration of α-galactosidase deficiency in amniotic fluid cells and chorionic villi respectively. The use of chorionic villi enabled a diagnosis within a few hours after sampling in the ninth week of pregnancy whereas the use of amniotic fluid cells in the earlier case required two weeks of culturing after amniocentesis in the 16th week. Four female fetuses were found; heterozygosity was demonstrated in one by analysis of clones in the primary amniotic fluid cell culture.     

Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females

Menkes X-linked disease, a copper disturbance syndrome, is detectable in cell cultures. Prenatal findings in two at-risk foetuses suggested that prenatal diagnosis was also feasible. In this study, we report substantial evidence that therapeutic abortion can be limited to hemizygous males. Forty-two at-risk pregnancies from 21 European families and 1 Canadian family were monitored with ⁶⁴Cu-uptake into cultured amniotic fluid cells. In 10 pregnancies with a male karyotype an affected foetus was predicted on the basis of the copper studies. The pregnancies were terminated and the diagnosis was in each case confirmed by a markedly increased placenta copper content. Fourteen male foetuses were predicted to be unaffected and none of them has developed signs of Menkes disease after birth. In 6 of these cases the diagnosis was checked in the newborn boy by placenta copper measurements, and they all had copper concentrations within normal limits. Eighteen pregnancies with a female karyotype were also studied. 9 females could be identified as carriers on the basis of the tissue culture studies or raised placenta copper values.     

Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

We successfully assessed a fetus at risk for lethal infantile hypophosphatasia using amniocyte DNA and allele-specific oligonucleotide (ASO) probes for two missense mutations in the tissue-non-specific alkaline phosphatase isoenzyme (TNSALP) gene. The nucleotide changes had been discovered in a sister who died at 8 months of age from this inborn error of metabolism. The mother was known to carry the 747 (cDNA) G→A transition, whereas her husband and 5-year-old daughter, who were also healthy, carried the 1309 A→T transversion. Amniocytes, obtained at 16 weeks' gestation, provided genomic DNA for polymerase chain reaction (PCR) amplification of the appropriate TNSALP gene exons. ASO hybridization revealed absence of the 747A mutation and presence of the 1309T base change in the fetus, indicating a carrier for hypophosphatasia. At 8 months of age, the offspring was in excellent health and without any radiological evidence of skeletal disease. His serum ALP activity and plasma pyridoxal 5′-phosphate level were decreased and increased, respectively, at levels consistent with the prenatal assessment. The ASO studies were confirmed postnatally using peripheral blood leukocyte DNA. This is the first application of direct mutational analysis to assess a fetus at risk for hypophosphatasia.     

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

A new fluorogenic substrate, 4-methylumbelliferyl β-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay provides a reliable method for early prenatal diagnosis of Sanfilippo disease type C which is more convenient than current methods using radiolabelled substrates. The method was applied to amniotic fluid cells and fetal fibroblasts from an at-risk pregnancy in which an affected fetus was diagnosed by two-dimensional electrophoresis of glycosaminoglycans in the amniotic fluid.     

我国降水、降尘中硒、碘、氟的研究

研究了我国东甫沿海至西北地区降水、降尘中硒、碘、氟的分布及其影响因素,结果表明。我国降水硒、碘、氟含量范围分别为0.03—0.59ppb、0.3—3.8ppb和0.03—0.6ppm,一般为0.1—0.2ppb、1—2ppb和0.05—0.1ppm,其主要影响因素为人类活动,海洋、风沙及土壤微生物亦各有不同程度的影响。以集尘桶采集的降尘硒、碘、氟含量均远高于当地表层土壤,主要受当地大气污染状况、降尘量、降水量及降水中该元素含量的影响。硒、碘、氟三元素的挥发性与水迁移性的相互关系在很大程度上决定着我国四大地方病的分布。     

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sono-graphic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.