沈阳冬季灰霾日大气颗粒物元素粒径分布特征

为分析沈阳市冬季灰霾日大气颗粒物元素粒径分布特征,2009年1月14日─2月2日,用安德森分级撞击式采样器进行大气颗粒物分级采样,并用电感耦合等离子体质谱仪(ICP-MS)对各级样品中Na和K等30余种元素进行分析,讨论了灰霾日、非霾日及除夕日大气颗粒物元素质量浓度和富集因子的粒径分布特征及来源. 结果表明:灰霾日大气颗粒物及其元素的质量浓度均高于非霾日,粒径越细,质量浓度越高,越容易富集污染元素.Fe类元素以地壳元素为主,其质量浓度的粒径分布在非霾日呈双峰型,最高峰值出现在9.0～10 μm粗粒径段;该类元素的粒径分布在灰霾日和除夕日呈三峰型,质量浓度的最高峰值也在9.0～10 μm粗粒径段. Mn类元素在非霾日的质量浓度分布与Fe类元素相似,也呈双峰型,最高峰值出现在9.0～10 μm粗粒径段;但其在灰霾日和除夕日呈双峰型,最高峰值却出现在粒径<1.1 μm的细粒径段. K类和Zn类元素的质量浓度和富集因子的粒径分布均呈单峰型,峰值出现在粒径<1.1 μm的细粒径段. K类元素主要来源于烟花爆竹释放;Zn类元素主要源于人为污染,Pb和As等污染元素因其来源不同,在灰霾日和非霾日的表现也不相同.      

Trisomic 22 placenta in a case of severe intrauterine growth retardation

We describe a case in which a trisomic 22 placenta could be the cause of severe growth retardation in a chromosomally normal female fetus. At amniocentesis a mosaic 46,XX/ 47,XX, +22 was observed in amniotic fluid specimens sampled on two different occasions, while fetal blood from a diagnostic cordocentesis revealed a normal chromosome constitution. Postnatal studies showed the consistent presence of trisomic 22 cells in the placenta, while only normal metaphases were found in amnion, blood, and fibroblast cultures.     

Prenatal diagnosis of smith–lemli–opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7-dehydrocholesterol (7-DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7-DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7-DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.     

Elevated mid-trimester hCG and maternal lupus anticoagulant

An association is described between women with lupus anticoagulant and abnormal prenatal serum screening results. Three cases of positive second-trimester serum screening for Down syndrome, with karyotypically normal fetuses, in women demonstrated to have lupus anticoagulant are presented. Serum screening positivity was principally due to a disproportionately elevated maternal serum human chorionic gonadotrophin (hCG) level. In each case, early, severe intrauterine growth restriction was documented, with only one fetus surviving the neonatal period. As maternal lupus anticoagulant may have a profoundly adverse effect on the course of pregnancy, we suggest that an elevated hCG level on prenatal screening prompt consideration of maternal lupus anticoagulant testing if ultrasonography demonstrates an otherwise normal singleton gestation and the fetal karyotype is normal.     

First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders

The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p >0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers.     

Prenatal diagnosis of familial ring 21 chromosome

Ring chromosome 21 is a rare chromosome anomaly often associated with mental retardation and dysmorphic features. Less commonly, the ring chromosome can be familial and associated with a normal phenotype. Phenotypically normal female carriers, however, are at increased risk of having children with Down syndrome, mosaic monosomy 21, and variable duplication or deletion of chromosome 21. Because of the relative mitotic and meiotic instability of ring chromosomes, abnormal cytogenetic findings encountered during prenatal diagnosis may not reflect the true genetic status of the fetus. This is a report of a phenotypically normal female carrier of a familial ring 21 chromosome. Prenatal diagnosis on her twin pregnancy revealed a mosaic 46,XX,r(21)(p13;q22) (77 per cent)/45,XX, – 21 in one fetus and a normal male karyotype in the second. The pregnancy was carried to term. Both infants are completely normal, with a non-mosaic ring 21 karyotype from the lymphocytes of one twin. The diagnostic uncertainty and problematic genetic counselling related to fetal cytogenetic abnormalities are the subjects of this report.     

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy

We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.     

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/52 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full-term neonate.     

Amniotic fluid alpha-fetoprotein,gamma-glutamyltranspeptidase,and autosomal trisomies

Alpha-fetoprotein (AFP) concentration and gamma-glutamyltranspeptidase (GGT) activity have been analysed in amniotic fluid from a series of 65 pregnancies with autosomal trisomies. AFP values were reduced on average to 60 per cent of normal in cases of trisomy 21, but were not significantly different from normal in cases of trisomies 18 and 13. GGT activities were uniformly lower (44 per cent of normal) for all types of autosomal trisomy. A review of the literature indicates that over 85 per cent of Down's pregnancies but only 39 per cent of trisomy 18 and 13 pregnancies have amniotic fluid AFP levels below the normal median value, while the corresponding figures for GGT are 91 per cent for Down's syndrome and 96 per cent for trisomies 18 and 13.     

沙尘暴细颗粒物对人外周血淋巴细胞微核形成的影响

用胞质阻断微核试验法比较研究了内蒙古包头市和甘肃武威市沙尘暴和正常天气细颗粒物(PM2.5)及其无机与有机提取物对人外周血淋巴细胞微核形成的影响.结果表明本试验条件下,沙尘暴和正常天气PM2.5及其有机提取物均使淋巴细胞微核率(micronuclei frequency,MNF)显著增高,核分裂指数(nuclear division index,NDI)显著下降(p＜0.01),且存在剂量-效应关系,而无机提取物虽有剂量-效应关系,但各处理浓度之间及其与对照相比差异均不显著(p＞0.05);相同处理浓度下,除工业城市包头正常天气的PM2.5及其有机提取物处理的微核率显著高于沙尘(p＜0.01)外,沙尘暴和正常天气样品处理结果无显著差异(p＞0.05);城市之间相比,只有正常天气PM2.5及其有机提取物处理的微核率包头显著高于武威(p＜0.01),而沙尘暴PM2.5及其提取物的所有处理的微核率无城市间差异(p＞0.05).     

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.     

The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long-term cultures

Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.     

Cystic hygroma simulating an encephalocele

An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance.     

大气CO2浓度升高对几种土壤微生物学特征的影响

利用中国扬州开放式空气CO2浓度升高(FACE)平台,研究大气CO2浓度升高对土壤微生物活性及群落功能多样性的影响.结果表明,在常氮施肥处理中,大气CO2浓度升高有增加微生物量碳的趋势,而在低氮施肥处理中大气CO2浓度升高的影响不大.在常氮、低氮施肥处理中,大气CO2浓度升高对微生物量氮均没有显著影响,有增加微生物C/N的趋势.在常氮施肥处理中,大气CO2浓度升高显著增加脱氢酶活性,而在低氮施肥处理中的影响不显著.在低氮施肥中大气CO2浓度升高显著增加酸性磷酸酶活性,在常氮施肥处理中的影响不显著.除在常氮施肥、大气CO2浓度升高时,Shannon指数、Simpson指数和微生物利用的碳源有显著变化外,其他处理中土壤微生物群落功能多样性的变化很小.     

Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues

We report an unusual case involving chorionic villus sampling (CVS) and trisomy 8 mosaicism. CVS showed a normal direct preparation while the culture showed mosaicism for trisomy 8. Subsequent amniocentesis revealed only normal chromosomes. A peripheral blood culture after birth revealed low-level trisomy 8 mosaicism. The patient appeared phenotypically and developmentally normal at 30 months of age. We conclude that prenatal counselling for similar cases needs to include the rare but real possibility that chromosome mosaicism detected prenatally may be found postnatally with largely unknown consequences. Secondly, low-level chromosomal mosaicism may be more common than previously recognized. Thirdly, very low-level trisomy 8 mosaicism may be compatible with a normal phenotype but long-term follow-up is required. And lastly, the use of fetal blood sampling is questionable in these cases because the phenotype may not be accurately predicted. Further studies of such cases are needed to address these important and unanswered issues, including the potential implication of mosaicism on academic performance and cognitive functioning.     

新旧常态中国产业全碳足迹复杂网络比较

国民经济是由多个性质迥异且相互依赖产业构成的复杂系统,科学识别产业碳排放关联传导结构对于实现中国碳减排目标具有的重要理论及现实意义。为此,首先从直接和间接两个角度综合定义全碳足迹,基于能源消耗及生产服务修正直接消耗系数,创立函数改进容许性,及时更新投入产出表,夯实数据来源基础。再设计平衡性投入产出产业全碳足迹生命周期模型测算产业全碳足迹,基于WT指数法构建新旧常态中国产业全碳足迹复杂网络,继而从网络整体、节点地位、社团结构等角度分析新旧常态中国产业全碳足迹网络特征。经比较发现,构造的新旧常态中国产业全碳足迹复杂网络整体结构合理;较旧常态而言,新常态产业全碳足迹联系更为紧密,核心关键产业控制影响力更强,社团结构则总体保持稳定。在此基础上,提出综合衡量产业全碳足迹、全面顾及个体及整体特征、重点关注核心关键节点和充分考虑产业社团特征的对策建议,以求更有效提升新常态中国产业协同减排效率。     

Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow-up

Follow-up evaluations were performed on a child at the ages of 2 years 8 months and also at 5 years who had been found on prenatal amniocentesis to be mosaic for trisomy 12. Eight of 36 colonies (22 per cent) were trisomy 12 at amniocentesis, with the remaining colonies showing a normal female karyotype. Cord blood, amnion, chorion, placental, and skin fibroblast chromosome studies failed to show any further evidence of a trisomy 12 cell line. At her evaluations, the child had normal physical and neurological findings. Psychomotor development was appropriate for age on screening.     

Relative risk of abnormal karyotype in fetuses found to have an atrioventricular septal defect (AVSD) on fetal echocardiography

One hundred and twenty-five fetuses were identified as having an AVSD with normal venous connections, normal arterial connections and normal cardiac situs on fetal echocardiography. Fetal karyotype was known in 111 of these cases. The relative risk of fetal trisomy 21 at mid-trimester was 107 (95% CI 87–127) times the expected number of cases compared with risk from maternal age alone, and that for trisomy 21,18 or 13 was 95 (95% CI 79–109). This data may be useful in counselling pregnant women about risk of fetal karyotypic abnormality after a diagnosis of fetal AVSD. Copyright © 2005 John Wiley & Sons, Ltd.     

我国典型海域主要生物体微量元素含量的统计研究

研究了微量元素Fe、Mn、Zn、CM、Sr、Ba在我国典型海域主要生物类别中的概率分布特征，并与常量元素Ca、Mg进行了比较。结果表明，微量元素的概率分布曲线具正偏态性质，概率分布类型大多为对数正态分布或近似对数正态分布，表明对某一特定微量元素，大多数生物体中的含量都比较低，只有个别生物有不成比例的高含量。常量元素Ca与微量元素相似，表现为对数正态分布，而Mg却具正态分布特征。本文给出了我国典型海域生物体中元素含量的总体分布特征。