代谢组学方法在生态毒理学中的应用进展

代谢组学方法越来越多地用于研究有机体与生态环境的相互作用。近年来,该方法已被应用于化学物风险评价和野生动物的疾病诊断,成为环境科学,特别是生态毒理学中充满活力的研究方向之一。本文介绍了应用于代谢组学研究的核磁共振波谱和质谱2种检测技术,着重讨论了生态毒理学研究中代谢组学方法在生物标志物的发掘和毒性评价,以及有机体对环境影响因子的代谢响应、野生水生动物疾病的诊断和监测等方面的应用。这些代谢组学在生态毒理学领域的应用将促进对有机体与环境相互作用的认识。     

Real-time PCR with molecular beacons provides a highly accurate assay for detection of Tay-Sachs alleles in single cells

The results presented here provide the first single-cell genetic assay for Tay-Sachs disease based on real-time PCR. Individual lymphoblasts were lysed with an optimized lysis buffer and assayed using one pair of primers that amplifies both the wild type and 1278 + TATC Tay-Sachs alleles. The resulting amplicons were detected in real time with two molecular beacons each with a different colored fluorochrome. The kinetics of amplicon accumulation generate objective criteria by which to evaluate the validity of each reaction. The assay had an overall utility of 95%, based on the detection of at least one signal in 235 of the 248 attempted tests and an efficiency of 97%, as 7 of the 235 samples were excluded from further analysis for objective quantitative reasons. The accuracy of the assay was 99.1%, because 228 of 230 samples gave signals consistent with the genotype of the cells. Only two of the 135 heterozygous samples were allele drop-outs, a rate far lower than previously reported for single-cell Tay-Sachs assays using conventional methods of PCR. Copyright © 2002 John Wiley & Sons, Ltd.     

Counselling following a diagnosis of congenital heart disease

Counselling the parents following a diagnosis of fetal congenital heart disease (CHD) is as important a task for the fetal cardiologist, as the skill involved in achieving an accurate diagnosis. The counsellor will base prognosis not only on the diagnosis itself but also on the security of diagnosis, the stage in gestation and potential for change, the association with extracardiac malformations and the known results of treatment. Depending on the gestational age and legal situation the counsellor is operating in, termination of pregnancy may be one of the options to consider and one that should always be raised in discussion. Thus, the parents may be in the position of making a crucial decision concerning the management of the pregnancy on the basis of the information received, so it is vital that the counsellor is truly able to communicate with them, whatever be their level of understanding. Copyright © 2004 John Wiley & Sons, Ltd.     

乌鲁木齐市冬季空气中SO_2浓度与空气湿度的关系及对人体的影响

根据乌鲁木齐市2000年11月-2001年3月和2001年11月-2002年3月两个冬季大气中SO_2浓度的月平均值,对乌鲁木齐市冬季SO_2与空气湿度的关系进行了研究,并分析了产生的原因及造成的后果。     

Congenital heart disease and aneuploidy

Congenital heart disease (CHD) is one of the commonest prenatal diagnoses made on routine ultrasound screening. Overall, up to 33% of CHD are associated with fetal aneuploidy. However, some specific cardiac lesions have a significantly greater association with particular chromosomal abnormalities. The majority of fetuses with CHD and aneuploidy also have extra-cardiac anomalies and are best managed by a multidisciplinary team where the management and prognosis of the cardiac defect can be discussed in the context of the baby as a whole. It is therefore important for clinicians involved in the management of fetuses with CHD to be aware of the association of aneuploidy as well as the prognosis and management of these cases, so that they can appropriately counsel the parents. In this chapter, we review the frequency and types of aneuploidy associated with the commonly diagnosed CHD and discuss their management. Copyright © 2004 John Wiley & Sons, Ltd.     

Early genetic amniocentesis and its relationship to respiratory difficulties in paediatric patients: A report of findings in patients and matched controls 3–5 years post-procedure

This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11–14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were found to have various respiratory difficulties, a morbidity rate comparable to that of paediatric patients in the general population. These data identify the need for larger, multicentre trials.     

武汉市职业病防治工作的现状与对策

分析武汉市职业危害形势与职业病防治工作的现状,探讨职业病防治工作中存在的问题,提出如何加强职业病防治的建议,为相关监管部门的工作提供研究依据.     

Using Coral Disease Prevalence to Assess the Effects of Concentrating Tourism Activities on Offshore Reefs in a Tropical Marine Park

Abstract: Concentrating tourism activities can be an effective way to closely manage high‐use parks and minimize the extent of the effects of visitors on plants and animals, although considerable investment in permanent tourism facilities may be required. On coral reefs, a variety of human‐related disturbances have been associated with elevated levels of coral disease, but the effects of reef‐based tourist facilities (e.g., permanent offshore visitor platforms) on coral health have not been assessed. In partnership with reef managers and the tourism industry, we tested the effectiveness of concentrating tourism activities as a strategy for managing tourism on coral reefs. We compared prevalence of brown band disease, white syndromes, black band disease, skeletal eroding band, and growth anomalies among reefs with and without permanent tourism platforms within the Great Barrier Reef Marine Park. Coral diseases were 15 times more prevalent at reefs with offshore tourism platforms than at nearby reefs without platforms. The maximum prevalence and maximum number of cases of each disease type were recorded at reefs with permanently moored tourism platforms. Diseases affected 10 coral genera from 7 families at reefs with platforms and 4 coral genera from 3 families at reefs without platforms. The greatest number of disease cases occurred within the spatially dominant acroporid corals, which exhibited 18‐fold greater disease prevalence at reefs with platforms than at reefs without platforms. Neither the percent cover of acroporids nor overall coral cover differed significantly between reefs with and without platforms, which suggests that neither factor was responsible for the elevated levels of disease. Identifying how tourism activities and platforms facilitate coral disease in marine parks will help ensure ongoing conservation of coral assemblages and tourism.