Trisomy 20 mosaicism in prenatal diagnosis–a review and update

A total of 66 cases with prenatal diagnosis of trisomy 20 mosaicism was reviewed. Since the majority of cases (85 per cent) was associated with grossly normal phenotype and the abnormalities noted in 15 per cent of cases were inconsistent and rather non-specific, no causal relationship between trisomy 20 mosaicism and a specific malformation syndrome can be established. The possiblity of an association between an abnormal phenotype and a high percentage of trisomy 20 cells (> 60 per cent) must be considered preliminary and be viewed with caution. The fact that cells with trisomy 20 have not been recovered from blood cultures and were detected more frequently from specific fetal tissues, (such as kidney, rectum, oesophagus), and from placental tissues, suggests that trisomy 20 is more likely to be confined to certain fetal organs and to extra-embryonic tissues. This review calls for the collection of more data on all cases of trisomy 20 mosaicism diagnosed prenatally, in order to provide more accurate information to the prospective parents.     

United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0–0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0–11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0–11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 13 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.     

Conceptual design of an integrated heating system at LKAB Malmberget with consideration of social-environmental damage costs

LKAB Malmberget is a Swedish mining site located at Malmberget, Sweden. Seven boiler centers are located in the north part of Malmberget. There are no connections in between these boiler centers, meaning that it is a decentralized heating system. The heat generated is used to heat up buildings and for mine ventilation air mainly during the cold periods. The heat is mainly provided from electric and oil boilers. However, most boilers under use are over 20 years old, and it is time to retrofit the boiler system and infrastructure. The purpose of this work is to design and optimize the heating system by introducing an integrated concept to minimize the heat production cost.An optimization model based on the mixed integer linear programming (MILP) has been developed. Several technical options have been considered in a new centralized heating system. The optimization principle is based on two kinds of perspectives: current price and external costs. With consideration of environmental and health damage from society concerns point of view, instead of environmental taxes in the current price perspective, the monetary values of externalities due to pollutants such as CO₂, NO_x, SO₂ and particulates emitted from the heating system are included. On the basis of data input and assumptions, modeling results indicate that a lower cost could be achieved when a waste heat recovery boiler is installed at the older pelletization plant to recover sensible heat from flue gas. This technical option is the best solution or at least contributes to the best solution in all optimization results. Including the externality cost is useful for making fair evaluation of the social-environmental impacts of the alternatives.     

Mercury removal, methylmercury formation, and sulfate-reducing bacteria profiles in wetland mesocosms

A pilot-scale model was constructed to determine if a wetland treatment system (WTS) could effectively remove low-level mercury from an outfall located at the Department of Energy's Savannah River Site. Site-specific hydrosoil was planted with giant bulrush, Scirpus californicus, and surface amended with gypsum (CaSO4) prior to investigating the biogeochemical dynamics of sediment-based sulfur and mercury speciation. On average, the pilot WTS decreased total mercury concentrations in the outfall stream by 50%. Transformation of mercury to a more "bioavailable" species, methylmercury, was also observed in the wetland treatment system. Methylmercury formation in the wetland was ascertained with respect to sediment biogeochemistry and S. californicus influences. Differences in sulfate-reduction rates (SRRs) were observed between mesocosms that received additional decomposing Scirpus matter and mesocosms that were permitted growth of the submerged macrophyte, Potamogeton pusillus. Relative abundance measurements of sulfate-reducing bacteria (SRB) as characterized using oligonucleotide probes were also noticeably different between the two mesocosms. A positive correlation between increased sulfide, dissolved total mercury, and dissolved methylmercury concentrations was also observed in porewater. The data suggest that soluble mercury-sulfide complexes were formed and contributed, in part, to a slight increase in mercury solubility. Observed increases in methylmercury concentration also suggest that soluble mercury-sulfide complexes represent a significant source of mercury that is "available" for methylation. Finally, a volunteer macrophyte, Potamogeton pusillus, is implicated as having contributed additional suspended particulate matter in surface water that subsequently reduced the pool of dissolved mercury while also providing an environment suitable for demethylation.     

A MODEL TO ENHANCE WETLAND DESIGN AND OPTIMIZE NONPOINT SOURCE POLLUTION CONTROL1

ABSTRACT: A dynamic, compartmental, simulation model (WETLAND) was developed for the design and evaluation of constructed wetlands to optimize nonpoint source (NPS) pollution control. The model simulates the hydrologic, nitrogen, carbon, dissolved oxygen (DO), bacteria, vegetative, phosphorous, and sediment cycles of a wetland system. Written in Fortran 77, the WETLAND models both free‐water surface (FWS) and subsurface flow (SSF) wetlands, and is designed in a modular manner that gives the user the flexibility to decide which cycles and processes to model. WETLAND differs from many existing wetland models in that the interactions between the different nutrient cycles are modeled, minimizing the number of assumptions concerning wetland processes. It also directly links microbial growth and death to the consumption and transformations of nutrients in the wetland system. The WETLAND model is intended to be utilized with an existing NPS hydro‐logic simulation model, such as ANSWERS or BASINS, but also may be used in situations where measured input data to the wetland are available. The model was calibrated and validated using limited data from a FWS wetland located at Benton, Kentucky. The WETLAND predictions were not statistically different from measured values for of five‐day biochemical oxygen demand (BOD₅), suspended sediment, nitrogen, and phosphorous. Effluent DO predictions were not always consistent with measured concentrations. A sensitivity analysis indicated the most significant input parameters to the model were those that directly affected bacterial growth and DO uptake and movement. The model was used to design a hypothetical constructed wetland in a subwatershed of the Nomini Creek watershed, located in Virginia. Two‐year simulations were completed for five separate wetland designs. Predicted percent reductions in BOD₅ (4 to 45 percent), total suspended solids (85 to 100 percent), total nitrogen (42 to 56 percent), and total phosphorous (38 to 57 percent) were similar to levels reported by previous research.     

THE EFFECTS OF VEGETATION AND SOIL TYPE ON STREAMBANK EROSION,SOUTHWESTERN VIRGINIA,USA1

The goal of this research was to evaluate the relative effects of root density, freeze/thaw cycling, and soil properties on the erodibility and critical shear stress of streambanks. The erodibility and critical shear stress of rooted bank soils were measured in situ at 25 field sites using a submerged jet test device; several soil, vegetation, and stream chemistry characteristics shown to influence soil erosion were also assessed. Multiple linear regression analysis was conducted to determine those factors that most influenced streambank erodibility and the relative impact of riparian vegetation. Study results indicated that soil erosion is a complex phenomenon that depends primarily on soil bulk density. Freeze/thaw cycling, soil antecedent moisture content, the density of roots with diameters of 2 to 20 mm, soil texture, and the interaction of soil pore water and stream water had a significant impact on soil erodibility and critical shear stress, depending on soil type. Riparian vegetation had multiple significant effects on soil erodibility. In addition to reducing soil erodibility through root reinforcement, the streamside vegetation affected soil moisture and altered the local microclimate, which in turn affected freeze/thaw cycling (FTC). This study represents the first in situ testing of the erodibility of vegetated streambanks and provides a quantitative analysis on the effects of vegetation on streambank erosion, relative to other soil physical and chemical parameters.