Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

氮肥水平对不同土壤CH4排放的影响

鉴于氮肥施用对农田CH₄排放的影响还有很大不确定性,室外盆栽试验于2002年在南京农业大学实施.选取3个供试土壤,各土壤设置对照和低、中、高3个不同氮肥水平,施入尿素量分别为0 g/盆钵(对照) ,0.64g/盆钵,(低氮水平) ,1.28g/盆钵(中氮水平) ,1.93g/盆钵(高氮水平) .结果表明在水稻生长季,不同氮肥(尿素)施用量对稻田土壤CH₄排放影响表现为不同土壤之间,及不同氮肥水平之间CH₄排放均存在显著差异.无氮肥施入的情况下,3种土壤的CH₄季节性累积排放量存在显著差异,分别为6.7g/m²,12.6g/m² 和8.3g/m².施加氮肥后,3种土壤的CH4排放量随氮肥施入量的增加,均表现为降低趋势,不同土壤CH₄排放量存在差异,土壤背景氮含量最高的F(江苏溧水)土壤的CH4排放都比相应氮肥水平下的G(江苏涟水)和H(江苏农科院)土壤的CH₄排放低1倍左右.更进一步发现从低氮到中氮水平,3种土壤CH₄排放量随氮肥用量的增加降低幅度最大,而此时各土壤的NH₄-N含量随氮肥用量增加明显提高,推断造成CH₄排放降低的主要可能原因是各土壤的氨态氮含量的增加所致.从中氮到高氮水平3种土壤的CH₄排放量的变化不尽相同,G和H土壤的CH₄排放量随氮肥用量的增加而降低,而F土壤在中氮和高氮水平下的CH4排放量没有明显变化,值分别为30g/m².     

长江口及邻近海域表层沉积物中营养元素的分布特征及其控制因素

对2003年6月采集的长江口及邻近海域的24个表层沉积物样品进行分析,分别得到C、N、P三种营养元素的三种形态的含量,并由此得到不同形态营养元素的平面分布及其在总量中所占的份额,即IC、IP为C、P的优势形态,而ON为N的优势形态。在此基础上,进一步分析了影响不同营养元素分布的因素,得出上覆水体的温度、沉积物粒度以及水动力条件等对沉积物中营养元素的分布具有重要影响。     

江宁开发区污水处理厂二期调试运行

江宁开发区污水处理厂建设规模为4万m^3／d，分两期建成，采用氧化沟处理工艺，污泥处理采用不经消化的带式脱水工艺。在此主要叙述了各工艺构筑物的设备配置、功能、设计参数及二期工程的试运行情况。     

镉铅对小麦醇脱氢酶(ADH)基因表达影响的初步研究

经过镉，铅４５ｈ污染处理，运用Ｎｏｒｔｈｅｉｎ斑点杂分析和酶活性测定的方法探测萌发期小麦ＡＤＨ酶基因的表达情况。实验结果表明，ＡＤＨ基因表达在ＲＮＡ和酶活性两个层次均有变化，并且呈现相似的变化趋势，反映得金属的影响是来源于基因转录水平。     

麸皮生物絮团技术在鲢鲤鱼混养鱼塘中的应用

在鲢鲤鱼混养鱼塘内进行增饲麸皮碳源的试验研究,探讨麸皮在常规养殖鱼塘生成生物絮团的效果及对鱼类生长和养殖水体水质的影响。结果显示:增饲麸皮可以显著促进鱼塘生物絮团的生长;与对照鱼塘相比,增饲麸皮的鱼塘鲜鱼产量提高16.32%,其增重率、特定生长率、生长势显著高于对照鱼塘;鲢鱼的生长性能高于鲤鱼,鲤鱼的饲料系数低于对照鱼塘,生物絮团对鲢鱼的促生长作用高于鲤鱼;与对照鱼塘相比,增饲麸皮的鱼塘水体透明度降低、总悬浮物(TSS)浓度上升,NO₂-N、NH₃-N、TN浓度显著降低,养殖水体部分水质指标得到改善。     

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Objective

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.

Method

The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.

Results

The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.

Conclusion

EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.     

飞灰螯合剂中挥发性污染物的释放

采集了4个市售飞灰螯合剂样品,分析其在20,40℃下挥发性污染物的释放规律.结果表明,释放的挥发性污染物主要有甲醛、乙醛、苯、异戊醛/异丙醇、甲硫醇、乙硫醇等;其中3个螯合剂样品甲醛的释放浓度在20℃为748~1325 μg/L-螯合剂,占释放的易挥发污染物的68%~96%（质量比）,在40℃为4282~6822 μg/L-螯合剂,占释放的易挥发污染物的87%~95%（质量比）.随着温度升高,释放的挥发性污染物种类变多,部分污染物浓度增加,40℃时,4个螯合剂样品释放的易挥发污染物浓度比20℃时增加了142%~444%.元素分析、拉曼光谱和热重分析结果表明,4个螯合剂的主要有效成分相似,为二硫代氨基甲酸盐类物质.因此,推测这种飞灰螯合剂在稀释和飞灰稳定化过程中,对工作人员的健康可能有潜在的危害风险,应收集释放的气体并进行处理;且在飞灰填埋过程中,可能会导致渗滤液中NH₄⁺-N等物质的浓度升高,增加渗滤液的处理难度.