The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger

The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirned by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.     

Photoperiod affects daily torpor and tissue fatty acid composition in deer mice

Photoperiod and dietary lipids both influence thermal physiology and the pattern of torpor of heterothermic mammals. The aim of the present study was to test the hypothesis that photoperiod-induced physiological changes are linked to differences in tissue fatty acid composition of deer mice, Peromyscus maniculatus (∼18-g body mass). Deer mice were acclimated for >8 weeks to one of three photoperiods (LD, light/dark): LD 8:16 (short photoperiod), LD 12:12 (equinox photoperiod), and LD 16:8 (long photoperiod). Deer mice under short and equinox photoperiods showed a greater occurrence of torpor than those under long photoperiods (71, 70, and 14%, respectively). The duration of torpor bouts was longest in deer mice under short photoperiod (9.3 ± 2.6 h), intermediate under equinox photoperiod (5.1 ± 0.3 h), and shortest under long photoperiod (3.7 ± 0.6 h). Physiological differences in torpor use were associated with significant alterations of fatty acid composition in ∼50% of the major fatty acids from leg muscle total lipids, whereas white adipose tissue fatty acid composition showed fewer changes. Our results provide the first evidence that physiological changes due to photoperiod exposure do result in changes in lipid composition in the muscle tissue of deer mice and suggest that these may play a role in survival of low body temperature and metabolic rate during torpor, thus, enhancing favourable energy balance over the course of the winter.     

Glial fibrillary acidic protein in amniotic fluids from pregnancies with fetal neural tube defects

The glial fibrillary acidic protein (GFAP) is the subunit protein of intermediate filaments in astrocytes and closely related cell types. By means of an enzyme immunoassay we have determined the concentration of GFAP in amniotic fluids from normal pregnancies and from pregnancies complicated by various fetal malformations. The group of 20 cases of fetal anencephaly had a significantly higher mean amniotic fluid GFAP concentration (115 μg/1±133.6 (S.D.), range 6–378 μg/1) than the control group of 117 normal pregnancies (13 μg/1k±5.5 (S.D.), range 0–31 μg/1), (P<0.001). Two cases of fetal encephalocele likewise had very high amniotic fluid GFAP concentrations. None of the other cases of fetal malformations investigated, including 12 cases of spina bifida, had increased amniotic fluid GFAP concentrations. We conclude that determination of the amniotic fluid GFAP concentration may give additional information in the prenatal diagnosis of fetal nervous system malformations.     

北京大气颗粒物中一元羧酸的季节变化和来源分析

通过膜采样溶剂提取、衍生化GC/MS分析,对2006年9月~2007年8月间北京大气PM10和PM2.5中的一元羧酸进行了观测研究.结果表明,可检出C10~C30的烷酸以及油酸、亚油酸和桐油酸3种烯酸,其中含量最高的是C16和C18 2种烷酸.PM10中,一元羧酸总浓度为61.7~1652.3ng/m3,年平均为426.2ng/m3;PM2.5中,一元羧酸总浓度为34.5~992.1ng/m3,年平均为319.6ng/m3.75%的一元羧酸分布在细粒子中,且冬、春季浓度明显高于夏、秋季.春、夏、秋、冬4个季节PM10中一元羧酸浓度分别为(625.1±403.8), (200.0±95.3), (263.0±201.1), (659.9±433.5)ng/m3; PM2.5中一元羧酸浓度为(431.7±211.0), (194.4±95.8), (207.9±160.8), (463.6±262.1)ng/m3.源解析显示,燃煤排放是冬季最主要的人为污染源;机动车排放则在其他季节贡献最大.     

Continuous subcutaneous insulin infusion (CSII) in pregnant diabetic patients

The efficacy of the insulin infusion pump (CSII) in pregnancy was examined in 12 diabetic patients and compared with intermittent insulin therapy (IIT). In patients poorly controlled on IIT constant and rapid equilibrium was achieved with CSII (mean of glucose levels: CSII versus IIT=84 versus 137 mg/dl; S.D. = 36 versus 63 mg/dl; mean amplitude of glycemic excursion (MAGE)=65 versus 112 mg/dl. In patients well controlled on IIT, CSII led to a reduction in the variation of glucose excursions (S.D.= 29 versus 36 mg/dl; MAGE=48 versus 76 mg/dl). CSII generally produced a reduction of 20–37 per cent of daily insulin dose (in three cases there was an increase of dose with the achievement of glycemic control). Furthermore in CSII treated-patients amniotic glucose, insulin and C-peptide concentrations werefound tobeinthenormalrange(22.1±10.1 mg/dl; 5.2±2.7μ/ml; 1.25±0.71 ng/ml, respectively). All infants were horn at or near-term, had no macrosomia or neonatal problems. It is concluded that CSII is a highly efficient way to achieve normal glucose levels in pregnancy, not only in type I, hut also in type II or gestational diabetes.     

Immunoblot detection of enzyme proteins of peroxisomal β-oxidation in fibroblasts,amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome

The amounts of enzyme proteins of peroxisomal β-oxidation in fibroblasts and chorionic villous cells from infants with Zellweger syndrome and in fibroblasts, amniocytes, and chorionic villi from healthy controls were measured by immunoblot analysis. Immunoreactive proteins of peroxisomal acyl-CoA oxidase and 3-ketoacyl-CoA thiolase were absent in fibroblasts and chorionic villous cells from the patients, yet these enzyme proteins were present in fibroblasts, cultured amniocytes, and chorionic villi from the normal controls. These results show that immunoblot analysis of peroxisomal β-oxidation enzymes in amniocytes and chorionic villous cells is of potential value for the prenatal detection of Zellweger syndrome.     

Molecular analysis of genomic DNA allows rapid,and accurate,prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22 bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5+1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5+1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA. Copyright © 2002 John Wiley & Sons, Ltd.     

流沙湾重金属变化特征与潜在生态风险评价

用ICP-MS对2008年流沙湾海水和沉积物中Cu、Pb、Zn、Cd、Cr等重金属含量进行了测试和分析。结果表明,在所调查的14个站位中,流沙湾水体中Cu、Pb、Zn、Cd、Cr的平均含量分别为(1.94±0.09)μg/L,(0.70±0.06)μg/L,(13.11±0.81)μg/L,(1.16±0.13)μg/L,(2.42±0.03)μg/L;表层沉积物中Cu、Pb、Zn、Cd、Cr的平均含量(10.16±1.34)mg/kg,(62.46±4.42)mg/kg,(86.74±18.65)mg/kg,(0.50±0.03)mg/kg,(22.81±2.80)mg/kg。流沙湾水体中Cu、Zn、Cd含量夏秋季高于冬春季,Pb冬夏季高于春秋季节,Cr含量季节变化不明显;各重金属元素在不同水域含量水平大致相当。表层沉积物中Cu、Pb、Zn、Cr夏季含量高于春季含量;Cu、Pb、Zn等元素在沙嘴处含量较高。生态环境质量评价结果表明,流沙湾水体未受到Cu、Pb、Zn、Cd、Cr等重金属元素的污染,水质优良;流沙湾表层沉积物中Cu、Pb、Cd、Cr和Zn等元素的潜在生态危害轻微。     

微藻脂肪酸在中国近海缺氧海水-沉积物界面中的降解模拟研究

通过一系列培养实验,模拟了有机物在中国近海季节性缺氧环境沉积物-海水界面的降解过程.以中国近海典型的赤潮藻中肋骨条藻(Skeletonema costatum)为研究对象,对中肋骨条藻中的几种典型脂类生物标志物在不同程度缺氧海水-沉积物界面中的降解行为进行追踪.通过分析测定不同培养时间获取的不同含氧体系(氧饱和度100%、50%,25%和0%)中中肋骨条藻4种主要脂肪酸[14:0、16:0、16:1(7)、20:5]的含量,结果表明,在前2~3周4种脂肪酸迅速减少,之后则变化很慢甚至几乎不变.在不同含氧体系中4种脂肪酸的降解存在很大差异,14:0、16:1(7)、20:5经过两个月的培养,在4种不同含氧体系中几乎降解完全,而16:0在4种体系中剩余25%~35%.根据multi-G模型对4种脂肪酸降解进行定量描述,结果表明,每种化合物可以分为降解较快和较慢的部分,各化合物的平均降解速率常数k av范围在0.079~0.84 d-1,14:0与16:1(7)的降解在25%含氧体系中最快,在降解最快的体系中,14:0的k av是最慢体系(含氧50%)的2.3倍,16:1(7)的k av是最慢体系(含氧100%)的1.7倍;16:0的最快降解速率出现在无氧体系中(0.17 d-1),是最慢体系[50%含氧体系(0.079 d-1)]的2.1倍;20:5的降解速率常数则与含氧量呈正相关.结果表明,影响中国近海缺氧海区沉积物-海水界面中中肋骨条藻中脂肪酸降解的因素除了含氧量之外,有机化合物本身的结构和性质以及环境中微生物作用等对其降解也存在着很大影响.     

水培和盆栽条件下碎米莎草对铀的耐受性及富集特征

碎米莎草(Cyperus iria L.)作为铀的超耐受植物,它的发现为探讨铀污染环境的植物修复和铀在植物体中的吸收和耐受机理提供了一种新的资源. 在Hoagland's营养液中加入铀标准溶液模拟铀污染水环境,以及直接在铀尾沙条件分析不同铀供应水平下碎米莎草对铀的耐受性能和富集特征. 结果表明:①碎米莎草对铀的富集特征依赖于生长介质中铀的供应水平和植物生长期等多重因素. 碎米莎草不同生长期各部位w(U)均高于生长介质中的铀供应水平,根系和地上部分w(U)最高可分别达(48 605±1 266)和(824±856)mg/kg. 根、茎和叶中w(U)基本随着铀供应水平的升高而增加,在开花期时较低,根系吸收的铀有1/10~1/5能转移至茎、叶、花籽部位,ρ(U)<250 mg/L的铀溶液对碎米莎草的生长无抑制作用. ②碎米莎草对铀尾沙具有很强的耐受性,但地上部分的富集系数在某些条件下可大于1;地上部分的w(U)在开花期相对较高,至成熟期时下降;在成熟期添加柠檬酸有助于碎米莎草根、茎和叶将铀转移至籽部位.      

Apolipoproteins in human fetal blood and amniotic fluid in mid-trimester pregnancy

To examine the potential for prenatal diagnosis of genetic lipoprotein metabolic defects (e.g. abetalipoproteinemia, Tangier disease) we determined the normal concentrations of apolipoproteins (apo) A-I, A-II, B, and E in mid-trimester amniotic fluid and fetal plasma. The concentrations of apo A-I and apo A-II in amniotic fluid were 1−2 per cent of the respective levels in the mother's plasma, whereas apo B and apo E were undetectable in amniotic fluid. In contrast to amniotic fluid, all four apolipoproteins were detectable in fetal plasma, and the levels of apo A-I, apo B and apo E were in the range observed in the mothers: 160·2 ± 103·1, 59·8 ± 35·7 and 5·7 ± 3·5 mg/dl respectively (mean ± SD, n=13). The fetal plasma level of apo A-II (28·3 ± 12·4 mg/dl) was two-thirds that observed in the mother's plasma. The normal levels of these apolipoproteins in fetal plasma are well above the sensitivity of the methods, and their quantification requires only 10−20 μl of fetal plasma. Determination of apolipoproteins in fetal blood obtained by fetoscopy thus may provide a method for the prenatal diagnosis of congenital apolipoprotein deficiences.     

夏、秋季北黄海营养盐的时空分布特征及其影响机制

基于2011年7月(夏季)和2011年10月(秋季)北黄海海域2个航次的调查资料,对北黄海夏、秋季营养盐的时空分布特征及其影响机制进行了探讨.结果表明,夏、秋季北黄海营养盐的平均浓度分别为:NO3- (1.57±1.71), (5.93±3.84) μmol/L,NO2- (0.22±0.18), (0.88±0.93) μmol/L,PO43- (0.22±0.13), (0.40±0.23) μmol/L,Si(OH)4 (4.98±2.23), (6.71±3.24) μmol/L,NH4+ (1.35±0.90), (1.23±0.69) μmol/L,夏、秋季北黄海NO3-分别占溶解无机氮的49%和74%.2个季节近岸海域表层营养盐浓度均高于中部海域,底层浓度高于表层,高值区是冷水团区.各断面营养盐的垂直分布层化现象明显,受冷水团以及水体交换混合的共同影响,浓度由表至底逐渐升高.夏、秋季表底层N/P、Si/N和Si/P比值的水平分布为近岸海域高于中部海域,且夏季北黄海浮游植物的生长繁殖受磷限制.     

CaO2投加量及投加方式对剩余污泥厌氧发酵产生短链脂肪酸的影响

以污水处理厂剩余活性污泥作为研究对象,在中温条件下,按照不同投加量和投加方式投加过氧化钙（CaO₂）进行预处理,考察其对污泥发酵产酸和产甲烷的影响,以期确定CaO₂最佳投加量和投加方式.结果表明,在（35±1）℃条件下,投加CaO₂可提高剩余污泥发酵液pH值,从而促进有机物的快速溶出.在同样投加剂量条件下,一次性投加比多次投加更有利于污泥的溶解以及短链脂肪酸的积累.当一次性投加0.2g CaO₂/g VSS时,发酵液中乙酸浓度在第7d达到最高值（169mg COD/g VSS）,同时乙酸在6种主要酸中所占比例达到最大（71.0%）.与一次性投加方式相比较,多次投加CaO₂对产甲烷的抑制作用较小,不利于SCFAs的积累.     

巢湖富营养化的沉积记录:结合态脂肪酸及其单体碳同位素特征

本文以中国五大淡水湖泊之一的巢湖作为研究对象,在对18cm的沉积钻孔中TOC、TN、δ13C、和δ13N测定的基础上,通过对巢湖现代沉积物中结合态脂肪酸的组成及其单体碳同位素特征的讨论,探讨了近70年来巢湖的富营养化过程。研究结果表明,巢湖沉积物中总有机质基本参数变化可以划分成二个主要阶段,其中7cm至表层段,δ13N、TOC和TN显著增大,可能与该时期湖泊富营养化持续加剧有关。利用结合态脂肪酸单体分子C16∶0、C18∶2W6和单体分子组合TARFA、C18∶1w7/C18∶1w9、(i-C15∶0+a-C15∶0)/nC15∶0比值的特征变化,表明12cm以来结合态脂肪酸以内源的藻类和细菌输入为主,并且从下向上对沉积物中的结合态脂肪酸贡献不断增加,反映出湖泊富营养化过程。结合态脂肪酸以单体C16∶0为主峰,沉积剖面中结合态脂肪酸中单体C16∶0的δ13C值在12cm开始迅速的增加,可以作为指示巢湖富营养化发生的重要指标。     

Distribution and sources of solvent extractable organic compounds in PM2:5 during 2007 Chinese Spring Festival in Beijing

The solvent extractable organic compounds (SEOC), including n-alkanes, polycylic aromatic hydrocarbons, fatty acids, anddicarboxylic acids in PM2.5 during the 2007 Chinese Spring Festival in Beijing, were measured via gas chromatography-massspectrometry for determining the characteristics and sources of these organic pollutants. The concentrations of total n-alkanes, PAHs,and organic acids before Chinese Spring Festival Eve (1025.5, 95.9, and 543.3 ng/m3, respectively) were higher than those after (536.6,58...     

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

Leigh syndrome (LS) is a mitochondrial encephalopathy that is caused by a mutation either in the mitochondrial DNA (mtDNA) or in the nuclear encoded genes of the mitochondrial proteins. Prenatal diagnosis of defects in the mtDNA is usually problematic because of mtDNA heteroplasmy and tissue specificity. However, the mutations T8993 G/C in the ATP synthase subunit 6 gene of the mtDNA show a more even tissue distribution and do not appear to change significantly over time. There are only few reports of prenatal diagnosis of the T8993G mutation in Leigh disease. Here we describe the first prenatal genetic testing of T8993C in a fetus of a mother whose previous child had died of Leigh syndrome due to the T8993C mutation. Mutant load in the chorionic villus sample (CVS) as well as in amniocytes was undetectable, thus predicting a very high likelihood of an unaffected outcome, indicative of a healthy baby. The diagnosis was confirmed after birth. Gathering data on the prenatal diagnosis of mtDNA mutations is of great importance so that prenatal diagnosis of both T8993G and T8993C mutations can be offered routinely. Copyright © 2002 John Wiley & Sons, Ltd.     

森林地区PM2.5中氨基酸的水平、来源及转化

在春季采集了南昌森林地区(28.75°N,115.71°E)大气PM_2.5样品,测定了其结合氨基酸(CAAs)和游离氨基酸(FAAs)的浓度以及甘氨酸(Gly)的氮同位素.结果表明,大气气溶胶中总CAAs的浓度为272.8~4761.5pmol/m³,总FAAs浓度为56.4~494.0pmol/m³.通过分析PM_2.5中氨基酸的百分比组成,得出CAAs中Pro、Gly、Glu、Leu和Ala为主要氨基酸,分别占总CAAs的(19.5±12.0)%, (19.4±10.6)%, (15.3±4.9)%, (12.8±5.4)%和(9.1±1.6)%.在FAAs中,Gly为最丰富的氨基酸,占总FAAs的(71.1±9.2)%,其他单个FAAs的百分比却很小(占比范围为0.1%~14.3%).FAAs中的中性氨基酸百分占比明显高于其在CAAs中的百分占比,这可能与远距离传输过程中氨基酸的光化学反应有关.通过氨基酸浓度与O₃、NO₂和温度的相关性分析,发现森林地区气溶胶中FAAs形成与大气光化学过程和热反应有关.气溶胶中δ¹⁵N_C-Gly值(-1.0‰~+17.5‰)和δ¹⁵N_F-Gly值(-5.5‰~+13.0‰)均接近于土壤源的δ¹⁵N_Gly值,说明森林地区PM_2.5中氨基酸可能主要来源于土壤源.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

Impact of undissociated volatile fatty acids on acidogenesis in a two-phase anaerobic system

This study investigated the degradation and production of volatile fatty acids(VFAs)in the acidogenic phase reactor of a two-phase anaerobic system.20 mmol/L bromoethanesulfonic acid(BESA)was used to inhibit acidogenic methanogens(which were present in the acidogenic phase reactor)from degrading VFAs.The impact of undissociated volatile fatty acids(un VFAs)on"net"VFAs production in the acidogenic phase reactor was then evaluated,with the exclusion of concurrent VFAs degradation."Net"VFAs production from glucose degradation was partially inhibited at high un VFAs concentrations,with 59%,37% and 60% reduction in production rates at 2190 mg chemical oxygen demand(COD)/L undissociated acetic acid(un HAc),2130 mg COD/L undissociated propionic acid(un HPr)and 2280 mg COD/L undissociated n-butyric acid(un HBu),respectively.The profile of VFAs produced further indicated that while an un VFA can primarily affect its own formation,there were also un VFAs that affected the formation of other VFAs.     

盘锦市夏冬季PM2.5中碳组分污染特征及来源分析

于2016年7月和2017年1月采集盘锦市3个点位的PM_2.5样品,研究盘锦市夏冬季节PM_2.5中碳组分的特征与来源.结果表明：盘锦市夏季PM_2.5、有机碳（OC）和元素碳（EC）日均浓度分别为（46.14±12.70）,（8.58±2.82）和（2.89±1.54）μg/m³;冬季分别为（91.01±43.51）,（24.50±15.51）和（7.31±5.00）μg/m³.夏季开发区和第二中学2个采样点的OC与EC之间不具有线性相关性;冬季3个采样点OC、EC高度相关.采用最小相关系数法（MRS）估算SOC浓度,得到夏季SOC的浓度为4.65μg/m³,占OC总量的54.19%;冬季SOC浓度为8.42μg/m³,占OC总量的34.36%.通过比值分析和主成分分析得出盘锦市夏季PM_2.5中碳组分主要来源为汽油车尾气和燃煤排放;冬季PM_2.5中碳组分主要来源为机动车尾气、燃煤排放和生物质燃烧.