Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.     

Trisomy 16 fetus surviving into the second trimester

A 27-year-old gravida 4, para 3 was found to have anhydramnios at 14 weeks' gestation following a size/date discrepancy noted at her routine prenatal visit. A detailed ultrasound revealed multiple fetal anomalies including congenital heart defect, chest hypoplasia, and bilateral dysplastic kidneys. Karyotype revealed trisomy 16 in 15/15 cells from a tissue specimen obtained from the fetal cord insertion site following elective pregnancy termination.     

中美能源权力的空间领域与均势区演化

随着美国“页岩气革命”取得重大突破,当前世界能源贸易版图和政治经济格局加速重塑,美国成为新的传统能源权力领导者,中国和平崛起下的能源安全问题愈发严峻。基于相互依赖理论和均势理论,构建了能源权力空间理论框架和能源权力静态模型,刻画出 2003—2018年间中美能源权力的空间范围及均势区变化：（1）随着国际能源权力体系和能源贸易网络的发展演变,中国和美国的能源权力空间发生巨大变化。（2）中美煤权力和天然气权力空间基本形成较为稳定的区域组团,中国原油权力空间保持强劲的全球扩展趋势,而美国原油权力空间面临转型重构。（3）中美能源权力的空间均势区不断碎片化成点状镶嵌,相对集中于欧洲大部、非洲南部和东亚,形成资源禀赋型、资源消费型、地缘通道型、政经倾向分离型、“第三国”控制型等五种类型。（4）中国对五种类型国家的能源合作政策宜因地制宜,有所侧重。通过政治和经济双重利益吸引资源禀赋型国家,与资源市场型国家加强能源技术合作,确保地缘通道型国家安全畅通,对政经倾向分离型国家加强经济合作以影响外交政治,合理安排与“第三国”主导型国家的能源合作。结论可为中国应对全球能源转型和能源格局重塑的复杂性变局,加强对外能源贸易合作与要素资源投放,确保国家能源安全提供理论和政策借鉴。     

Bisphenol A exposure alters release of immune and developmental modulators and expression of estrogen receptors in human fetal lung fibroblasts

Bisphenol A(BPA) has been shown to exert biological effects through estrogen receptor(ER)-dependent and ER-independent mechanisms. Recent studies suggest that prenatal exposure to BPA may increase the risk of childhood asthma. To investigate the underlying mechanisms in the actions of BPA, human fetal lung fibroblasts(h FLFs) were exposed to varying doses of BPA in culture for 24 hr. Effects of BPA on localization and uptake of BPA,cell viability, release of immune and developmental modulators, cellular localization and expression of ERα, ERβ and G-protein coupled estrogen receptor 30(GPR30), and effects of ERs antagonists on BPA-induced changes in endothelin-1(ET-1) release were examined.BPA at 0.01–100 μmol/L caused no changes in cell viability after 24 hr of exposure. h FLFs expresses all three ERs. BPA had no effects on either cellular distribution or protein expression of ERα, however, at 100 μmol/L(or 23 μmol/L intracellular BPA) increased ERβprotein levels in the cytoplasmic fractions and GPR 30 protein levels in the nuclear fractions.These paralleled with increased release of growth differentiation factor-15, decreased phosphorylation of nuclear factor kappa B p65 at serine 536, and decreased release of ET-1,interleukin-6, and interferon gamma-induced protein 10. ERs antagonists had no effects on BPA-induced decrease in ET-1 release. These data suggest that BPA at 100 μmol/L altered the release of immune and developmental modulators in h FLFs, which may negatively influence fetal lung development, maturation, and susceptibility to environmental stressors, although the role of BPA in childhood asthma remains to be confirmed in in vivo studies.     

Drawing the Battle Lines: Tracing the “Science War” in the Construction of the Chloroform and Human Health Risks Debate

The United States Environmental Protection Agency (US EPA) and the Chlorine Chemistry Council, the Chemical Manufacturers Association, and others have been embroiled in a legal challenge concerning the US EPA's “reversal” regarding the scientific assessment of chloroform's carcinogenicity. This issue arose during the US EPA's November 1998 promulgation of a Maximum Contaminant Level Goal for chloroform in the Stage 1 Final Rules for Disinfectants and Disinfection Byproducts in drinking water. In this paper we adopt a claimsmaking approach: to trace the development and outcome of the chloroform court challenge in the USA, to examine the construction of scientific knowledge claims concerning chloroform risk assessments, and to investigate how different interpretations of scientific uncertainties regarding the evidence are contested when such uncertainties are brought into a regulatory and judicial arena. This “science war” (Chlorine Chemistry Council and others v. US EPA and others) took place in the US Court of Appeals for the District of Columbia Circuit. The scientific “authority” in the construction of scientific claims in this dispute is based on the International Life Sciences Institute expert panel report on chloroform. Examining these science wars is important because they signal critical shifts in science policy agendas. The regulatory outcome of the chloroform science war in the United States can have profound implications for the construction and acceptance of scientific claims regarding drinking water in other jurisdictions (e.g., Canada). In this challenge, we argue that the actors involved in the dispute constructed “boundaries” around accepted and credible scientific claims.     

孕期低剂量镉暴露对不同性别胎鼠肝脏发育的影响及其分子调控机制的研究

为探究镉对胎儿肝脏发育的毒性作用.拟选用15只性成熟的8周龄的雌性C57BL/6小鼠,与雄鼠交配见栓后,于妊娠第7.5 d(Embryonic 7.5,E7.5)时,随机分为3组(每组5只),分别通过饮用水暴露法饲喂0、20和40 mg·L^-1的氯化镉溶液,并于E14.5 d时收集各组小鼠的胎儿肝脏等组织.通过Ki67和TUNEL染色方法探究镉对不同性别胎鼠肝脏的增殖功能和凋亡功能的影响,并通过PCR芯片筛查和实时定量PCR方法检测镉处理组的雌性和雄性胎鼠肝脏中与细胞增殖和凋亡功能相关基因的表达变化.此外,我们还将通过石墨炉火焰原子吸收技术对镉处理组的雌性和雄性胎鼠的镉含量进行检测.结果显示:孕期低剂量镉暴露对胎儿体重、胎肝重量和肝脏指数均无显著性影响.在本实验条件下,镉对胎鼠肝脏的凋亡功能无显著性影响,但对增殖功能具有抑制作用,且该抑制作用具有雌性依赖性的特征.镉特异性诱导雌性胎鼠肝脏中NF1等多个细胞增殖功能相关基因以及TGF-β1信号通路分子的表达失衡;但对雄性胎鼠肝脏中相关基因的表达水平无显著性影响.镉在雌性胎儿组织中的积累量显著高于雄性胎儿组织.综上所述,孕期低剂量镉暴露特异性抑制雌性胎儿肝脏的细胞增殖功能,并诱导雌性胎儿肝脏中NF1等多个增殖功能相关基因以及TGF-β1信号通路分子的表达失衡,该性别依赖性的抑制作用可能与镉在雌性胎儿中相对较高的积累量相关.     

超声波-TiO_2光催化联合处理垃圾渗滤液

采用超声波强化TiO2光催化技术处理垃圾渗滤液。研究了TiO2催化剂用量、光照作用、超声波作用、pH值、曝气作用等因素对垃圾渗滤液中COD和氨氮去除率的影响。结果表明,在TiO2粉末的投加量为2 g/L、pH值为11时,先采用功率为292.5 W的超声波辐射3 min,再以高压汞灯(250 W)照射3 min,垃圾渗滤液中的COD和NH3-N去除率分别达到50.1%和75%。若在同一条件下进行饱和曝气可以使NH3-N去除率进一步达到85.3%,但会降低COD的去除率。     

Immunoassays as high-throughput tools: Monitoring spatial and temporal variations of carbamazepine, caffeine and cetirizine in surface and wastewaters

Carbamazepine (CBZ), caffeine and cetirizine were monitored by enzyme-linked immunosorbent assays (ELISAs) in surface and wastewaters from Berlin, Germany. This fast and cost-efficient method enabled to assess the spatial and temporal variation of these anthropogenic markers in a high-throughput screening. CBZ and cetirizine were detected by the same antibody, which selectively discriminates between both compounds depending on the pH value used in the incubation step. To our best knowledge, this is the first dual-analyte immunoassay working with a single antibody.The frequent sampling with 487 samples being processed allowed for the repeated detection of unusually high concentrations of CBZ and caffeine. ELISA results correlate well with the ones obtained by liquid chromatography tandem mass spectrometry (LC-MS/MS). Caffeine concentrations found in surface waters were elevated by combined sewer overflows after stormwater events. During the hay fever season, the concentrations of the antihistamine drug cetirizine increased in both surface and wastewaters.Caffeine was almost completely removed during wastewater treatment, while CBZ and cetirizine were found to be more persistent. The maximum concentrations of caffeine, CBZ and cetirizine found in influent wastewater by LC-MS/MS were 470, 5.0 and 0.49 μg L⁻¹, while in effluent wastewater the concentrations were 0.22, 4.5 and 0.51 μg L⁻¹, respectively. For surface waters, concentrations up to 3.3, 4.5 and 0.72 μg L⁻¹ were found, respectively.     

超声波/零价铁协同降解氯苯类化合物的QSPR研究

在同一反应条件下测得超声波/零价铁(US/Fe)协同降解五种氯苯类化合物符合准一级反应,降解速率常数(k)呈现一定的规律性:1,2,4-TCB>M-DCB>P-DCB>O-DCBCB>CB。采用偏最小二乘法(PLS)建立氯苯类化合物定量结构-性质相关(QSPR)的数学模型,模型的主成分分析结果表明:在US/Fe体系中,影响氯苯类有机物降解的主要因素分别是物质的氯取代程度,分子极化率及亨利常数。     

大气气溶胶物质来源研究进展

大气气溶胶物质来源研究是大气污染研究极为重要的内容,它对污染物质的追踪评价具有较大的意义。本文较为系统地讨论了大气气溶胶物质来源研究的现状。从气溶胶的特征上分别论述气溶胶物质来源的矿物学（ 颗粒） 、无机化学和有机化学研究的进展。