Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.     

将高纬度地区生态系统的反馈与恢复力引入公司决策

本文讨论了在高纬度地区公司所起的作用,它被概念化为以社会和经济为媒介的生态系统,同时指出了商业环境里其他的一些重要的社会参与者.我们列举了高纬地区企业行为的三个案例并对其中各种共性进行了讨论.特别的,我们认为有必要对商业理论和实践进行革新,以使其不只是停留在社会与经济概念的组织恢复力上,而要把高纬地区的生态恢复力也包括到商业管理的目标之中.同时我们也认为区域生态系统的恢复力应该成为衡量企业可持续管理的一个有意义的指标,企业高层可以据此制定和修改企业的管理策略.最后,文章在结尾处呼吁对高纬地区内的跨国公司和国内公司的作用制定更为详细的研究议程.     

Is maternal alpha-fetoprotein screening still of value in a low-risk area for neural tube defects?

Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early.     

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α-L -iduronidase deficiency and an increased level of ³⁵S-sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α-L -iduronidase, using phenyl α-L -iduronide and more recently 4–methyl-umbelliferyl α-L -iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. ³⁵S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.     

Oil/Suspended Particulate Material Interactions and Sedimentation

The interactions of physically dispersed oil droplets with suspended particulate material (SPM) can be important for the transport of bulk quantities of spilled crude oil and polycyclic aromatic hydrocarbons (PAH) to subtidal sediments. The literature regarding oil/SPM interactions is reviewed, and results from whole-oil droplet/SPM interaction kinetics and pure-component (Prudhoe Bay crude oil distillate cut) equilibrium partitioning experiments are presented. The effects of oil type, SPM characteristics, and salinity on the interaction rates are examined, and the importance of whole-oil droplet/SPM interactions on particle agglomeration and settling behavior are discussed. Whole-oil droplet/SPM interactions are retarded as oil droplet dispersion into the water column is inhibited by oil viscosity increases due to evaporation weathering and water-in-oil emulsification. Compared to whole oil droplet/SPM interactions, dissolved-component/SPM adsorption is not as significant for transport of individual components to sediments. The information presented in this paper can be used to augment computer-based models designed to predict oil-spill trajectories, oil-weathering behavior, and spilled oil impacts to the marine environment.     

INCORPORATING NATURAL VARIABILITY,UNCERTAINTY, AND RISK INTO WATER QUALITY EVALUATIONS USING DURATION CURVES1

ABSTRACT: Quantifying natural variability, uncertainty, and risk with minimal data is one of the greatest challenges facing those engaged in water quality evaluations, such as development of total maximum daily loads (TMDL), because of regulatory, natural, and analytical constraints. Quantification of uncertainty and variability in natural systems is illustrated using duration curves (DCs), plots that illustrate the percent of time that a particular flow rate (FDC), concentration (CDC), or load rate (LDC; “TMDL”) is exceeded, and are constructed using simple derived distributions. Duration curves require different construction methods and interpretations, depending on whether there is a statistically significant correlation between concentration (C) and flow (Q), and on the sign of the C‐Q regression slope (positive or negative). Flow DCs computed from annual runoff data vary compared with an FDC developed using all data. Percent exceedance for DCs can correspond to risk; however, DCs are not composed of independent quantities. Confidence intervals of data about a regression line can be used to develop confidence limits for the CDC and LDC. An alternate expression to a fixed TMDL is suggested as the risk of a load rate being exceeded and lying between confidence limits. Averages over partial ranges of DCs are also suggested as an alternative expression of TMDLs. DCs can be used to quantify watershed response in terms of changes in exceedances, concentrations, and load rates after implementation of best management practices.     

Specific Contributions of Politics,Economics, and Toxicology in Setting Socially Consensual Limit Values

/ Limit values are legal limits for the concentrations of substances in the environment. They must be agreed upon in a consensual procedure between science, economics/technology, and political forces. This is a crucial political precondition for their social acceptance. The arguments put forward to justify their expediency and numerical level are based not only on risk-benefit considerations but also on the aspect of the technical avoidability of direct and indirect exposure. The critical assessment of the direct benefit of specified exposures falls within the responsibility of economics/technology, whereas criteria for their potential adverse effects (direct and indirect) are provided by medicine/biochemistry and/or ecology. Within this concept, the avoidance of nonbeneficial-even if not openly adverse-exposure is the essential aim of environmental hygiene and should be promoted by politics/science. In general, society or segments thereof reject adverse, accept beneficial, and tolerate unavoidable exposure. Conflicts of interest arise when different groups of society simultaneously define a given exposure as being adverse, beneficial, and unavoidable. Therefore, from the viewpoint of society as a whole, an optimal exposure lies as far as reasonably achievable at a level lower than known or plausible adverse effect thresholds (as defined by toxicology or ecology). This optimal level of exposure must be determined using a transparent and, hence, public procedure.KEY WORDS: Legal limit values; Benefit threshold; Social acceptance; Social tolerability; Adverse effect threshold; Avoidable exposure; Tolerance threshold; Environmental hygiene     

Thermal treatment and non-thermal technologies for remediation of manufactured gas plant sites

More than 1500 manufactured gas plant (MGP) sites exist throughout the U.S. Many are contaminated with coal tar from coal-fueled gas works which produced ‘town gas’ from the mid-1800s through the 1950s.^1,2 Virtually all old U.S. cities have such sites. Most are in downtown areas as they were installed for central distribution of manufactured gas. While a few sites are CERCLA/Superfund, most are not. However, the contaminants and methods used for remediation are similar to those used for Superfund clean-ups of coal tar contamination from wood-treating and coke oven facilities. Clean-up of sites is triggered by regulatory pressure, property transfers and re-development as well as releases to the environment — in particular, via groundwater migration. Due to utility de-regulation, site clean-ups may also be triggered by sale of a utility or of a specific utility site to other utilities. Utilities have used two approaches in dealing with their MGP sites. The first is ‘do nothing and hope for the best’. History suggests that, sooner or later, these sites become a bigger problem via a release, citizen lawsuit or regulatory/public service commission intervention. The second, far better approach is to define the problem now and make plans for waste treatment or immobilization. This paper describes recent experience with a high capacity/low cost thermal desorption process for this waste and reviews non-thermal technology, such as bio-treatment, capping, recycling, and dig and haul. Cost data is provided for all technologies, and a case study for thermal treatment is also presented.