Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the deficiency of incorporation of radiolabel from [¹⁴C]isovaleric acid in macromolecules in cultured fibroblasts. This paper reports a consecutive series of 24 prenatal diagnoses in pregnancies at high risk, using both methods-metabolite and indirect enzyme assay. Affected fetuses were diagnosed in four pregnancies: three in the second trimester and one recent case in the first trimester. The latter represents the first reported case of a first-trimester diagnosis of IVA by direct analysis of chorionic villi. We also report the first demonstration of strongly accumulated IVG in the amniotic fluid in the 12th week of an affected pregnancy.     

Prenatal diagnosis of congenital diaphragmatic hernia: A retrospective analysis of 28 cases

In a retrospective analysis of 28 cases of fetal diaphragmatic hernia, overall mortality was 86 per cent, but fell to 70 per cent when multiple anomalies were excluded. Congenital heart disease constituted the majority of associated anomalies. The incidence of an abnormal karyotype was 10·5 per cent, but rose to 20 per cent when only fetuses with multiple anomalies were included. Polyhydramnios, which occurred in 75 per cent, was a poor predictor of fetal outcome. The same applied to the intrathoracic position of the fetal stomach. In all four survivors, diaphragmatic hernia was diagnosed beyond 32 weeks of gestation.     

Marker chromosomes in A series of 10000 prenatal diagnoses. Cytogenetic and follow-up studies

In a series of 10 000 prenatal diagnoses 15 marker chromosomes were detected in our centre. Six of these were familial whilst nine had originated de novo. They were analysed with various staining methods. DA-DAPI staining was positive in nine out of 12 pregnancies. Six pregnancies were continued. Five normal children were born, one ended in intrauterine fetal death of a normal fetus at 37 weeks. Nine pregnancies were terminated, showing six normal fetuses, one familial cat-eye syndrome, one fetus with Down syndrome caused by additional trisomy 21 and one fetus with cystic kidneys resp. It is concluded that it seems safe to continue the pregnancy in cases of a familial marker, identical to that of one parent, whilst a de novo DA-DAPI positive marker seems to present a low risk for fetal anomalies.     

The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p<0.001) and mortality (0% vs. 46%; p<0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non-hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non-hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p<0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti-arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.     

我国南方不同类型草地生产力及对气候变化的响应

为进一步明晰南方不同类型草地的碳源汇关系,预测未来气候情景下可能的碳循环特征,利用本地参数化的BIOME-BGC模型对2001~2010年低山丘陵草原化草甸、典型草山草坡和典型山地草甸样地净初级生产力(NPP)与净生态系统生产力(NEP)进行了模拟估算。不同类型草地的NPP和NEP 10年间变化趋势不同,低山丘陵草原化草甸、典型草山草坡和典型山地草甸的NPP平均值分别为357.17、232.4和191.96gC/(m2·a);NEP的平均值分别为3.25、21.28和81.96gC/(m2·a)。3种类型草地NPP与温度之间存在显著的正相关关系,NEP与温度之间存在着显著的负相关关系;本模型模拟的NPP和NEP与年平均降水量之间相关性不明显。未来气候情景C1P-1T1下(CO2浓度倍增,年均温增加2℃,降水减少10%),低山丘陵草原化草甸样地NPP增加26.93%,NEP增加160%;典型草山草坡样地NPP增加62.20%,NEP增加153%;典型山地草甸样地NPP增加135%,NEP增加206%。3种南方草地类型在未来气候情景下都将有一定的碳汇增长潜力,其中以典型山地草甸的碳汇潜力最为明显,与降水量相比受温度变化的影响相对较大。     

Brominated flame retardants and perfluorinated chemicals, two groups of persistent contaminants in Belgian human blood and milk

We assessed the exposure of the Flemish population to brominated flame retardants (BFRs) and perfluorinated compounds (PFCs) by analysis of pooled cord blood, adolescent and adult serum, and human milk. Levels of polybrominated diphenyl ethers (PBDEs) in blood (range 1.6-6.5 ng/g lipid weight, lw) and milk (range 2.0-6.4 ng/g lw) agreed with European data. Hexabromocyclododecane ranged between <2.1-5.7 ng/g lw in milk. Perfluorooctane sulfonic acid (PFOS) and perfluorooctanoic acid (PFOA) dominated in blood and ranged between 1 and 171 ng/mL and <0.9-9.5 ng/mL, respectively. Total PFC levels in milk ranged between <0.5-29 ng/mL. A significant increase in PBDE concentrations was detected from newborns (median 2.1) to the adolescents and adults (medians 3.8 and 4.6 ng/g lw, respectively). An identical trend was observed for PFOS, but not for PFOA. We estimated that newborn exposure to BFRs and PFCs occurs predominantly post-natally, whereas placental transfer has a minor impact on the body burden.     

The relationship between typhoons' peripheral circulation and ground-level ozone concentrations in central Taiwan

Surface data of meteorological parameters (wind speed, wind direction, and mixing height) and air pollutant concentrations (O₃, NO, and NO₂) were collected for a 92-day period associated with typhoon formation in 2005. The influence of typhoons on O₃ concentration were defined by azimuth and distance from Taiwan, and Types A, B, and C correspond to typhoons less than 1,500 km from Taiwan and located between azimuths 45° and 135°, 135° and 225°, and 225° and 45°, respectively. Type D corresponds to typhoons more than 1,500 km from Taiwan. Titration reactions were conducted at three temporal phases: 2000–0700, 0800–1100, and 1200–1400 LST (Local Standard Time). The air pollution model (TAPM) was used to simulate wind fields and trajectories of air masses. It was determined that typhoon position affected O₃ concentration, temporal and spatial patterns of O₃ titration and vertical meteorological characteristics, which were not all at the statistically significant level.     

中国不同交通模式的可达性空间格局研究

交通运输网络是经济发展的重要保障,分析可达性空间格局差异对引导人口分布和交通设施合理建设具有重要意义。以中国2 317个县级行政区域为研究对象,采用加权平均旅行时间法,通过构建可达性指标分析了公路、铁路、机场、港口及综合交通的空间格局。结果表明:公路可达性形成了以郑州、武汉、合肥为中心的"核心-外围"模式;铁路形成了以京沪线为轴线,沿铁路干线分布的带状结构,最优区已南移至合肥及南京;机场可达性形成了以各个枢纽机场为核心的"轴-辐"结构;港口可达性由沿海向内陆降低;综合交通可达性由东向西降低,具有反自然梯度特征。4种交通方式的可达性总体水平较高,约有70%的县域超过平均水平,与人口分布具有一定的相似性,东部城市高于西部城市,但存在区域内的不均衡现象。最后对各交通方式出现的问题提出了一些针对性建议。     

Characterizing and locating air pollution sources in a complex industrial district using optical remote sensing technology and multivariate statistical modeling

Emissions of volatile organic compounds (VOCs) are most frequent environmental nuisance complaints in urban areas, especially where industrial districts are nearby. Unfortunately, identifying the responsible emission sources of VOCs is essentially a difficult task. In this study, we proposed a dynamic approach to gradually confine the location of potential VOC emission sources in an industrial complex, by combining multi-path open-path Fourier transform infrared spectrometry (OP-FTIR) measurement and the statistical method of principal component analysis (PCA). Close-cell FTIR was further used to verify the VOC emission source by measuring emitted VOCs from selected exhaust stacks at factories in the confined areas. Multiple open-path monitoring lines were deployed during a 3-month monitoring campaign in a complex industrial district. The emission patterns were identified and locations of emissions were confined by the wind data collected simultaneously. N,N-Dimethyl formamide (DMF), 2-butanone, toluene, and ethyl acetate with mean concentrations of 80.0?±?1.8, 34.5?±?0.8, 103.7?±?2.8, and 26.6?±?0.7 ppbv, respectively, were identified as the major VOC mixture at all times of the day around the receptor site. As the toxic air pollutant, the concentrations of DMF in air samples were found exceeding the ambient standard despite the path-average effect of OP-FTIR upon concentration levels. The PCA data identified three major emission sources, including PU coating, chemical packaging, and lithographic printing industries. Applying instrumental measurement and statistical modeling, this study has established a systematic approach for locating emission sources. Statistical modeling (PCA) plays an important role in reducing dimensionality of a large measured dataset and identifying underlying emission sources. Instrumental measurement, however, helps verify the outcomes of the statistical modeling. The field study has demonstrated the feasibility of using multi-path OP-FTIR measurement. The wind data incorporating with the statistical modeling (PCA) may successfully identify the major emission source in a complex industrial district.