Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females

Menkes X-linked disease, a copper disturbance syndrome, is detectable in cell cultures. Prenatal findings in two at-risk foetuses suggested that prenatal diagnosis was also feasible. In this study, we report substantial evidence that therapeutic abortion can be limited to hemizygous males. Forty-two at-risk pregnancies from 21 European families and 1 Canadian family were monitored with ⁶⁴Cu-uptake into cultured amniotic fluid cells. In 10 pregnancies with a male karyotype an affected foetus was predicted on the basis of the copper studies. The pregnancies were terminated and the diagnosis was in each case confirmed by a markedly increased placenta copper content. Fourteen male foetuses were predicted to be unaffected and none of them has developed signs of Menkes disease after birth. In 6 of these cases the diagnosis was checked in the newborn boy by placenta copper measurements, and they all had copper concentrations within normal limits. Eighteen pregnancies with a female karyotype were also studied. 9 females could be identified as carriers on the basis of the tissue culture studies or raised placenta copper values.     

Metabolic enzymes activity and histomorphology in the liver of whitefish (Coregonus lavaretus L.) and pike (Esox lucius L.) inhabiting a mineral contaminated lake

The effects of wastewater from a mining and ore-dressing mill on fish in Lake Kostomukshskoe, which is used as a cesspool of circulating water and for storage of industrial wastes produced by the Kostomuksha mining and ore-dressing mill in northwest Russia, were studied. The lake is characterized by heavy mineralization, high pH, elevated levels of K⁺, Li⁺, SO₄ ^2?, NO^2?, Cl^?, Li, Mn, and Ni, and the presence of a fine-dispersed mechanical suspension. To assess the impact of contamination on fish and determine the mechanisms of their adaptation, we investigated the biochemical indices and histology of the liver of whitefish (Coregonus lavaretus L.) and pike (Esox lucius L.) inhabiting Lake Kostomukshskoe, downstream Lake Koyvas (64° 47′ 30° 59′), and Lake Kamennoe, which is located in a nature preserve and has not been affected by anthropogenic activity (64° 28′ 30° 13′). Changes were detected in the activity of metabolic enzymes (cytochrome c oxidase (COX), lactate dehydrogenase, and glucose-6-phosphate dehydrogenase) in the liver. Specifically, the COX activity in the liver of both fish species from the contaminated lake decreased, indicating a low level of aerobic metabolism. Lipid infiltration was the most visible and widespread change observed in the liver of both fish species; therefore, it can be considered a marker of such long-term contamination. Lesions in pike liver demonstrated a wider range of severity than in those of whitefish. In summary, metabolic enzyme activity and histomorphology of the liver of whitefish and pike differed among lakes in a species-specific manner. The changes in enzyme activity and histomorphological alterations in fish that were observed can be applied for evaluation of freshwater systems that may be subjected to mineral pollution.     

An isobole-based statistical model and test for synergism/antagonism in binary mixture toxicity experiments

Synergism and antagonism are often defined in relation to the model of Concentration Addition (CA). Hence, it is vital for the conclusion of mixture toxicity studies to be able to test whether an observed deviation from CA reflects a true deviation or whether it is simply due to random variation. In this paper we consider a non-linear regression model for the classical ray designs for binary mixture experiments. The model combines dose–response curves for each mixture in the experiment with an isobole model, describing possible deviations from CA. The method allows us to test whether the chosen isobole model is reasonable for the data and to test the hypothesis of CA. Furthermore, it provides us with a measure of the degree of synergism/antagonism. The method is flexible since both the dose–response relationships and the isobole model can be chosen arbitrarily. We demonstrate the use of the method on datasets where combinations of pesticides are tested on a floating plant, Lemna minor, and an algae, Pseudokirchneriella subcapitata. Furthermore, we conduct a simulation study in order to explore the power with which a specific deviation from CA can be distinguished in different test-systems.     

A comparative study of prenatal ultrasound findings and post-mortem examination in a tertiary referral centre

This retrospective study compares the findings of prenatal ultrasound, performed in a tertiary fetal medicine centre, with the results of post-mortem examination in pregnancies complicated by suspected fetal abnormality that results in fetal loss. The study was carried out over a year at a teaching hospital, Fetal Medicine Centre and Regional Centre for Perinatal Pathology. Results were directly compared and the level of agreement between the ultrasound and post-mortem findings described. These were classified as having complete agreement; major agreement or major disagreement. The group of cases with major agreement between findings was further divided into those with significant, or minor, additional findings at post-mortem examination. Over the 12-month period, 153 ultrasound cases were identified, of which 47 were also examined by autopsy and were thus suitable for comparison in this study (30.7%). Complete agreement between ultrasound and post-mortem findings was found in 22 cases (46.8%). In 24 cases (51.1%), major agreement between ultrasound and post-mortem findings was seen. Of these, 11 had minor additional findings at post-mortem examination and 13 were found to have significant additional findings at post-mortem (27.7%), adding to the eventual diagnosis. In 12.8% of cases, post-mortem examination provided a definitive diagnosis. Only in one case was there complete discordance in the findings of the ultrasound examination and the autopsy (2.1%). No major disagreement between ultrasound and post-mortem findings was seen in 98% of cases. This study confirms the accuracy of prenatal ultrasound diagnosis in specialist centres, whilst emphasising the continuing importance of post-mortem examination in cases of fetal malformation to refine and, in some cases, define the diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

高职商务英语专业内容依托型教学模式初探

内容依托教学(CBI)是融语言学习与内容学习为一体的教学方式。在高职商务英语专业采用CBI教学模式,以真实的商务活动为背景,使语言学习和专业技能的培养与商务实践相结合,有助于形成"懂商务、会英语"的复合型应用人才培养模式。但目前CBI的实施还面临着教师素质、教学效果以及评估体系等方面的问题,可通过培养专业师资、制定合理教学进度等方法逐步完善。     

石灰石-石膏湿法烟气脱硫技术研究

本文以内蒙古某发电厂两个机组的脱硫项目为依托,深入分析研究了石灰石-石膏脱硫工艺,对其化学反应过程和机理进行了总结和探讨;对石灰石-石膏湿法烟气脱硫系统工艺流程及设备进行了剖析;并通过绘制曲线具体分析了主要参数对脱硫效率的影响,如烟气温度、原烟气进口SO2浓度、烟气中O2含量、循环浆液 pH 值、吸收塔烟气流速、液气比及Ca/S等对脱硫效率的影响.     

Source identification of sulphate forming salts on sandstones from monuments in Salamanca,Spain—a stable isotope approach

Background, aim and scope  

Salt efflorescences markedly contribute to the alteration and deterioration of building material, in this case the Villamayor Sandstone of the facades in the Old Town of Salamanca, Spain (United Nations Educational, Scientific and Cultural Organization world cultural heritage site). A better understanding of the mechanisms of salt formation and the involved elements would allow more precise measures in monument conservation. The magnesium which is required for the salt precipitation originates from selective processes of hydrolysis. The source of sulphate, however, is presently not as clear. Identifying the source of the sulphur was the main goal of this research. Isotope ratio measurement of δ³⁴S and δ¹⁸O was used to clarify the origins of Mg sulphate salts.     

核桃果皮基活性炭对甲基橙和酸性品红的吸附性能

采用氯化锌活化法制得核桃果皮基活性炭吸附甲基橙和酸性品红,考察了吸附时间,pH,吸附质初始浓度对吸附性能的影响及吸附热力学和动力学性质。结果表明,核桃果皮基活性炭是吸附甲基橙和酸性品红染料的理想材料;延长吸附时间,去除率和吸附量增加,最佳吸附时间为6 h;减小pH值,去除率和吸附量增加。pH为6时,2种染料的去除率达95%以上,吸附效果较好;增大吸附质初始浓度,去除率降低,吸附量增大,当甲基橙初始浓度为180 mg/L时,吸附基本达到饱和;甲基橙的吸附属于单层吸附,酸性品红的吸附属于多层吸附行为。准二级动力学方程均能较好地解释2种染料的吸附动力学行为。