Non-ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis

We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned.     

Prenatal diagnosis of non-ketotic hyperglycinemia

We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/ serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non-ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability.     

Adverse perinatal outcome in patients screen-positive for neural tube defects and fetal down syndrome

An association between various abnormal mid-trimester maternal serum analyte values and adverse perinatal outcome has been reported. From an original sample of 14 857 women, we observed five women who were ‘screen-positive’ for both neural tube defects [maternal serum alpha-fetoprotein (MSAFP) ≥2·5 multiples of the median] and Down syndrome [risk ≥1/274 using MSAFP, maternal serum unconjugated oestriol (MSuE3), maternal serum human chorionic gonadotropin (MShCG), and maternal age]. The four patients who elected to undergo amniocentesis all demonstrated both normal karyotype and normal amniotic fluid AFP levels. All five cases were associated with intrauterine growth retardation (IUGR) and abnormal pregnancy outcomes. Two cases exhibiting severe IUGR on ultrasound examination were terminated at 19·1 and 21·2 weeks, respectively; the former also exhibited fetal calcifications and positive maternal serology for toxoplasmosis. In another case, fetal demise occurred at 36 weeks' gestation in a patient who had been treated for syphilis in the second trimester. Neither infection was confirmed in fetal tissue studies. Though resulting in live births, the remaining two cases required operative deliveries; emergency Caesarean sections for fetal distress were performed at 38 and 32 weeks, respectively, the latter case being associated with severe pre-eclampsia. We conclude that elevated mid-trimester MSAFP levels concurrent with maternal serum analyte values associated with increased risk for fetal Down syndrome may presage a poor perinatal outcome, particularly IUGR and possibly congenital infection.     

Genetic amniocentesis in twin pregnancy

Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α-fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure. The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed.     

烟花爆竹燃放对北京大气污染物和水溶性无机离子的影响

为了解春节期间烟花爆竹燃放对北京大气污染物和PM_2.5中水溶性无机离子贡献的影响,采用浓度特征对比、相关性分析等方法,对2011年2月1日-3月1日期间的PM₁₀、气态污染物、PM_2.5中水溶性无机离子浓度等在线数据进行了分析.结果表明:烟花爆竹的燃放会在短时间内加重PM₁₀颗粒物污染,集中燃放期（含除夕、春节、正月初五、元宵节）ρ（PM₁₀）和φ（SO₂）（分别为232μg/m3和40.2×10-9）是非集中燃放期（63μg/m3和16.0×10-9）的3.7和2.5倍,燃放烟花爆竹对ρ（PM₁₀）和φ（SO₂）的小时贡献率分别达到56.8%和35.6%;但对φ（CO）、φ（NO）、φ（NO₂）无显著影响.而观测期间由其他因素导致的污染期ρ（PM₁₀）和各气态污染物小时体积分数有所增加,分别是非集中燃放期的3.0~8.3倍.燃放烟花爆竹对PM_2.5中ρ（Mg2+）、ρ（K+）、ρ（Cl-）的影响最大,分别为非集中燃放期的65.0、31.6、6.9倍,贡献率分别为88.6%、87.2%、65.8%. ρ（Mg2+）、ρ（K+）与ρ（Cl-）在集中燃放期表现出较高的相关性（R>0.9）.污染期ρ（SO₄2-）、ρ（NO₃-）、ρ（NH₄+）明显升高,分别为非集中燃放期的3.8、16.4、8.3倍,同时高于集中燃放期（分别为2.7、2.5、2.1倍）.集中燃放期PM_2.5中主要以NH₄HSO₄、NH₄NO₃、KNO₃、KCl、NH₄Cl、MgCl₂等形式存在.集中燃放期硫氧化物转化率（SOR）高于非集中燃放期和污染期,而氮氧化物转化率（NOR）则是污染期最高.研究显示,燃放烟花爆竹对ρ（PM₁₀）及PM_2.5中ρ（Mg2+）、ρ（K+）、ρ（Cl-）影响最大,污染期各离子浓度均有大幅升高,NOR在污染期的高值是导致ρ（NO₃-）升高的重要原因.      

Influences of phosphate nutritional level on the phytoavailability and speciation distribution of cadmium and lead in soil

IntroductionNorth-east China is one of the most importantindustrial bases and also a main agriculturalproduction area. Land disposal of wastes and irrigatingwith sewage have led to increasing heavy metalcontents in soil (Chen, 1996) and the problemsinduce…     

Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

长江口及其邻近海域颗粒态氨基酸的分布以及对有机质降解和来源的指示

本研究于2018年3月采集长江口及其邻近海域50个站位样品，对颗粒态氨基酸（PAA）的分布与组成进行了分析。结果表明:PAA的平均浓度为（1.86 ± 1.02）μmol/L（0.76～5.55 μmol/L），其主要组分为天门冬氨酸（Asp）、谷氨酸（Gly）、丝氨酸（Ser）、丙氨酸（Ala）和甘氨酸（Glu）。颗粒有机碳（POC）和颗粒氮（PN）的平均浓度分别为（74.21 ± 37.70）μmol/L（18.06～238.66 μmol/L）和（7.52 ± 3.46）μmol/L（2.27～19.86 μmol/L）。PAA、POC与PN具有相似的分布特征，长江口内浓度低于近岸浓度，近岸浓度高于远岸浓度，垂直分布上较为均匀。研究海域中的C/N由近岸向远海逐渐降低，表明陆源输入有机质的影响逐渐降低。基于氨基酸的衍生参数Asp/Gly和Ser + Thr（苏氨酸）[mol%]表明该海域颗粒物中有机质主要源于硅质碳源，与硅藻在该海域中相对较高的生物量有关。碳、氮归一化产率[PAA-C（N）%]以及降解因子（DI）所指示的降解趋势并不完全一致，这或许与PAA-C（N）%和DI适用于不同降解阶段以及氨基酸来源与转化的多样性有关。     

Measurement of cholinesterases in amniotic fluid using a naphthyl acetate as substrate: A possible initial test for prenatal diagnosis of open neural tube defects

A quantitative method for cholinesterases in amniotic fluid using the non-specific substrate α naphthyl acetate and the cholinesterase-specific inhibitor, eserine, is described. This assay was used to test 671 samples of amniotic fluid. The diagnoses for fetal ONTDs, based on the levels of AChE + ChE, were compared with those made for the same samples by the AFP method. Correct diagnoses were made by both methods with amniotic fluid from 35 women carrying fetuses with ONTDs and 631 carrying normal fetuses. There were five false-positive test results for normal fetuses by both methods when the cut-off points were 5 standard deviations above the mean for AFP and above the upper limit of the normal range (7. 5 milliunits) for cholinesterase (AChE + ChE). None of the false-positive samples from either method had the acetylcholinesterase band of activity characteristic of ONTDs after gel electrophoresis. In addition to the above 671 samples, 37 pregnancies with serious fetal abnormalities other than ONTDs were tested. Two were identified by both the AFP and AChE + ChE methods, two more by AFP assay and one other by the AChE + ChE assay.     

养猪废水中磺胺嘧啶对湿地底泥中氮转化微生物及过程影响

为探讨养殖废水中兽用抗生素对湿地系统中氮素转化及相关微生物过程的影响,以养殖废水中常见的抗生素SD（磺胺嘧啶）为例,设置0、10、100和1 000 μg/L 4个添加浓度开展模拟试验.通过qPCR（实时荧光定量PCR）技术,测定了湿地底泥中氨氧化和反硝化功能基因丰度,结合Pearson相关分析,分析了养殖废水中不同氮素形态与底泥中氮转化功能基因丰度的关联性.结果表明:①与CK组比较,添加SD对湿地TN的最终去除效果无显著性差异,4个处理组的TN去除率为75.4%~80.5%,但在培养前期（0~14 d）,SD对水体NH₄+-N和NO₃--N转化的抑制率最高分别达53.0%和99.5%,随着SD浓度的增加,抑制作用越强,到培养后期（14~28 d）,各处理水体中不同形态的氮浓度无显著差异.②由qPCR测试结果得出,湿地底泥中AOA（氨氧化古菌）的丰度比AOB（氨氧化细菌）高出1~2个数量级,表明AOA在氨氧化过程中起主导作用,另外在培养第7天,AOB发生显著抑制现象,对SD更敏感;与CK相比,在第7天和第14天,反硝化基因narG、nirS、nirK和nosZ丰度随SD浓度的增加而逐渐降低.③相关性分析结果表明,AOA与ρ（NH₄+-N）呈极显著正相关（P < 0.01）,AOB与ρ（NO₃--N）呈极显著正相关（P < 0.01）,nirK与ρ（NO₂--N）呈极显著正相关（P < 0.01）.研究显示,SD能抑制湿地底泥中氮转化微生物及相关氮转化过程,且SD浓度越大,抑制作用也越大,但随着培养时间的增加抑制作用会减弱.      

不同氮水平下秸秆和酚类、有机酸对土壤碳含量的影响

利用采集自FACE(Free Air Carbon Dioxide Enrichment)技术平台上田间培养的土壤样品,通过温室培养的方法,研究不同CO₂浓度下导致作物生物量增加和更多酚类、有机酸输入对土壤碳含量的影响. 结果表明,CO₂浓度升高时,通过根系分泌的酚类、有机酸对土壤各粒级分配的影响受秸秆加入和氮水平的调控. 在有无秸秆加入条件下,酚类、有机酸的加入主要增加了粒径>250和<53 μm土壤的碳含量. 单位土壤各粒级的碳含量均增加,粒径>53 μm增加幅度较大;在没有秸秆加入的常规氮水平与有秸秆加入的低氮水平下,碳含量变化幅度较大. 表明来自高CO₂浓度条件下秸秆和酚类、有机酸对土壤碳的固定具有重要的作用和意义.      

Prediction model of mercury accumulation in fish of reservoirs

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Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling

From a total of 1312 diagnostic chorionic villus samplings (CVS) there were 22 which showed discordance between the karyotype of the chorionic villi and that of the fetus. This frequency was some 20-fold higher than that reported at amniocentesis. In the majority of discordant cases, the fetal karyotype was normal while the placenta! karyotype was mosaic. In four cases, the placenta! karyotype was non-mosaic (a trisomy 16, a monosomy X, and two tetraploids) while the fetal karyotype was normal. In one case, the placenta was trisomy 18 while the fetus was mosaic. There were two ‘false-negative’ results where short-term methods showed only normal cells while both long-term cultures of chorionic villi and fetal cells were mosaic, in one 46,XY/47.XXY and in the other 46,X Y/47.X Y, + 21.     

Rapid detection of numerical aberrations of chromosomes 13, 18 and 21 in chorionic mesenchymal cells

We have devised and evaluated a rapid screening method for the detection of numerical aberrations of chromosomes13, 18 and 21 in chorionic villus cells. We used non-radioactive in situ hybridization (ISH) with three chromosome-specific probes on overnight-attached mesenchymal cells from chorionic villi. A blind study was performed of 47 karyotypically normal samples, one triploid sample, two samples trisomic for chromosome 21, and two samples from a fetus with putative mosaicism (46/47, +21). All samples were hybridized with the chromosome 18- and 21-specific probes. Thirty samples were additionally hybridized with the chromosome 13-specific probe. The test could be completed within 3-4 days of sampling. In samples disomic with respect to the probed chromosomes, an average of 2 per cent (range 0-9 per cent) had three hybridization signals. By contrast, in the samples trisomic for the probed chromosome(s), 57 per cent (chromosome 13), 51 per cent (chromosome 18), and an average of 74 per cent (55-86 per cent) (chromosome 21) of the nuclei exhibited three signals. In the putative mosaic samples, the number of nuclei with three chromosome 21-specific signals ranged from 41 to 69 per cent. We conclude that this technique rapidly and clearly distinguishes between normal and trisomic/triploid samples, and consequently may be of use in future prenatal diagnosis.     

金属离子对青霉素菌渣厌氧发酵产气模型分析

为比较响应面法与反向传播神经网络法在厌氧发酵过程中的应用效果,以青霉素菌渣为原料,通过单因素和Box-Behnken法设计试验,在发酵体系中添加不同量的Fe²⁺、Co²⁺、Ni²⁺,以确定其对青霉素菌渣厌氧产气性能的影响.结果表明,Fe²⁺、Co²⁺、Ni²⁺单一最佳添加量为：500mg/L、30mg/L、0.3mg/L,产沼气量较对照分别提高了：102.18%、45.48%、60.12%.其促进作用随添加浓度增大呈现：弱-强-弱趋势.使用响应面法及反向传播神经网络法对金属离子添加量进行建模优化,并使用批式厌氧发酵进行验证.响应面法建模预测Fe²⁺、Co²⁺、Ni²⁺最佳混合添加浓度为：440.94mg/L、16.22mg/L、0.39mg/L,预测累积产沼气量为1314.49mL,R²=0.972,试验与验证相对误差为4.65%;反向传播神经网络法建模Fe²⁺、Co²⁺、Ni²⁺最佳混合添加浓度为495mg/L、21mg/L、0.5mg/L,预测产沼气量为1551.55mL,R²=0.991,试验与验证相对误差为0.47%.反向传播神经网络法建模具有更好的拟合效果且与验证试验误差小,是一种更有效的仿真方法.说明该方法在优化厌氧发酵金属离子添加具有应用潜力,同时也为厌氧发酵条件优化提供新思路.     

经饮水亚慢性铝染毒对大鼠血铁及相关蛋白水平的影响

为了探讨慢性铝暴露对大鼠铁代谢的影响,将100只4周龄清洁级雄性Wistar大鼠随机均分成摄铝组(430mg·L-1,以Al3+计)与对照组(蒸馏水),饮水染铝,每隔30d处死染铝大鼠和对照大鼠各10只,实验周期为150d.同时,在不同时间点(30d、60d、90d、120d、150d)测量大鼠体重,并进行协方差分析.最后,用火焰原子吸收分光光度法、固相竞争ELISA和比色法检测血浆Al、Fe、转铁蛋白(TF)、可溶性转铁蛋白受体(sTfR)含量及总铁结合力(TIBC).结果表明,在摄铝前期(90d前),染铝对大鼠体重无显著影响,而后期(120d后)染铝对大鼠体重抑制作用较大.在实验周期内,各时间点间对照组血浆中各指标均无显著差异,摄铝组随着时间的延长各指标变化较大.各时间点摄铝组血浆中Al含量及Al/Fe均显著高于对照组(p0.01);30d时摄铝组血浆中Fe含量与对照组相比无显著差异(p0.05),60、90、120d时均显著低于对照组(p0.01),150d时显著高于对照组(p0.01);30、60d时摄铝组血浆TF含量与对照组相比无显著差异(p0.05),90d后显著高于对照组(p0.05;p0.01);30、60d时摄铝组TIBC与对照组相比无显著差异(p0.05),其后各时间点均显著高于对照组(p0.01);30d时摄铝组sTfR含量与对照组相比无显著差异(p0.05),其后各时间点均显著低于对照组(p0.01).由此可见,铝可干扰大鼠体内铁的代谢,影响铁的生物学作用.     

A rare inherited euchromatic heteromorphism on chromosome 1

Extra genetic material that is euchromatic is generally regarded to be associated with phenotypic abnormalities. However, recent studies suggest that this is not always the case. Chromosome analysis was performed on amniotic fluid cells from a 37-year-old phenotypi-cally normal patient referred for advanced maternal age. All the cells analysed showed a karyotype of 46, XY, 1p-K The 1p+ chromosome had extra genetic material of uncertain origin in chromosome band region 1p21 →31. Chromosome analysis on the father revealed a normal 46, XY male karyotype. The mother's karyotype showed the same 1p+ chromosome. C and Q banding, as well as silver staining studies, in both the mother and the fetus support the interpretation that the extra chromosomal material was euchromatic in nature. This 1p + chromosome may be characterized as a euchromatic heteromorphism. Euchromatic hetero-morphisms not associated with phenotypic abnormalities have been reported for chromosomes 9 and 16. To the best of our knowledge, this is the first report involving this type of cytogenetic anomaly on chromosome number 1 in a phenotypically normal mother and infant.     

Tests appropriate for the prenatal diagnosis of ataxia telangiectasia

A fetus ‘at-risk’ for ataxia telangiectasia (A-T) was monitored prenatally by several approaches which, in concert, might yield information of diagnostic value: measurement of amniotic fluid AFP levels; the clastogenic potential of ‘at-risk’ amniotic fluid; and cytogenic evaluation of fetal amniocytes. All three parameters proved negative and normality, based primarily on the chromosomal study of fetal cells, was therefore presumed. This conclusion was confirmed shortly after birth by normal serum AFP levels and the lack of increased spontaneous or clastogen-induced chromosome breakage in the infant's cells. Based on previous observations from four normal and one affected fetus, the coordination of these techniques provides adequate methodology for the antenatal assessment of the phenotypes associated with A-T.     

酵母菌-活性污泥法吸附处理含铬电镀废水的性能

研究了解脂假丝酵母(Candida lipolytica 1977)、产朊假丝酵母(Candida utilis 1225)和活性污泥处理含铬电镀废水的吸附与还原性能.结果表明,解脂假丝酵母对废水的pH适应范围广.当pH=3.2～6.0时,25g/L菌体对电镀废水中30.2 mg/L总铬的去除率达85.0%;对27.7mg/L Cr⁶⁺的还原率高达100%.2株酵母协同处理电镀废水,可以有效的提高铬的生物吸附效率,对30.2 mg/L 总铬的去除率达91.1%.曝气生物吸附法研究结果表明,该法是本研究中处理含铬电镀废水最有效的方法.10g/L酵母菌,5g/L活性污泥处理50.3mg/L 总铬、46.2mg/L Cr⁶⁺水样8h后,去除率达93.8%;而当污泥浓度为10g/L时,去除率高达99.5%.     

兽用抗生素磺胺二甲嘧啶对稻田NH3挥发的影响

为了研究兽用抗生素对稻田NH_3挥发的影响,本文采用稻田原位观测试验,分别对比分析了磺胺二甲嘧啶土壤高残留(常规施肥模式,基肥复合肥,追肥尿素)及随有机肥源(基肥猪粪,追肥尿素)进入土壤,对稻田NH_3挥发的影响.试验共设5个处理:对照无肥料无兽用抗生素处理(CK);基肥为复合肥,无兽用抗生素(CF)及添加磺胺二甲嘧啶处理(CF+SD);基肥为猪粪,无兽用抗生素(CM)及添加磺胺二甲嘧啶处理(CM+SD).结果表明,无论基肥是复合肥还是猪粪,磺胺二甲嘧啶均未改变稻田NH_3挥发的季节性排放规律,但均极显著促进了水稻追肥期的NH_3挥发(P0.01).整个观测期NH_3挥发损失率CF+SD处理和CM+SD处理分别是CF和CM处理的1.65和2.78倍,说明磺胺二甲嘧啶对猪粪为基肥的稻田NH_3挥发促进效应更为明显.磺胺二甲嘧啶显著促进了土壤脲酶活性(P0.05),而NH_3挥发速率同脲酶活性及土壤氨氮呈显著正相关(P0.05),表明磺胺二甲嘧啶改变了土壤脲酶活性及无机氮含量,进而改变了土壤NH_3挥发.如何控制兽用抗生素的滥用以及随粪源大量进入农田导致的环境生态风险是我国目前亟需解决的问题.