Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Existing oxidant/ozone standards in OECD countries

This paper describes the historical development and current legislation to control photochemical oxidant pollution in OECD countries. Policies for implementing, attaining, and maintaining ambient air quality standards or goals are discussed, problems associated with the various steps are highlighted, and the possibility of international policy guidelines which could control pollution across national frontiers is considered. To date, only a few countries have formulated ambient air quality standards for ozone/ oxidants; these standards are usually short-term averages over 1 h, ranging from 0.06 ppm (μL/L) in Japan to 0.12 ppm (μL/L) in the United States. The current interest in air quality management on an international scale leads to the conclusion that successful control of photochemical oxidant pollution would be best accomplished through the establishment of internationally acceptable standards or goals for oxidants/ozone based on health effects and other relevant environmental impacts, in combination with control strategies developed and implemented on an international level.     

Roles of land use resolution and unit-area load rates in assessment of diffuse nutrient emissions

In contrast to its counterparts in Europe and North America, the Australian National Pollutant Inventory (NPI) includes estimates of aggregated emissions of nutrients (total nitrogen and total phosphorus) from catchments and facilities. Sparse or inadequate data limit the extent to which nutrient exports may be estimated from direct observations. The paucity of data for calibration and simulation limits the use of sophisticated models in most Australian catchments. Therefore, a simple unit-area load model-Catchment Management Support System (CMSS)-was selected to estimate aggregated catchment emissions for the NPI. Estimates from models like CMSS are sensitive to spatial and categorical resolution of land uses identified within the catchment and to nutrient generation rates selected for each land use category. Using three Hawkesbury-Nepean subcatchments, we show that while high spatial resolution of land use mapping is useful, only four or five major land use categories with carefully selected generation rates were required to estimate potential nutrient exports sufficiently well and to determine subcatchments contributing most. Nutrient emission estimates proved to be highly dependent on selection of generation rates so a bootstrap technique was adopted to reduce subjectivity and to improve estimates of confidence limits. This led to a specification of new generation rates for Natural, Unimproved pasture, Rural and Urban land uses and to establishment of uncertainty limits.     

New international long-term ecological research on air pollution effects on the Carpathian Mountain forests,Central Europe

An international cooperative project on distribution of ozone in the Carpathian Mountains, Central Europe was conducted from 1997 to 1999. Results of that project indicated that in large parts of the Carpathian Mountains, concentrations of ozone were elevated and potentially phytotoxic to forest vegetation. That study led to the establishment of new long-term studies on ecological changes in forests and other ecosystems caused by air pollution in the Retezat Mountains, Southern Carpathians, Romania and in the Tatra Mountains, Western Carpathians on the Polish-Slovak border. Both of these important mountain ranges have the status of national parks and are Man & the Biosphere Reserves. In the Retezat Mountains, the primary research objective was to evaluate how air pollution may affect forest health and biodiversity. The main research objective in the Tatra Mountains was to evaluate responses of natural and managed Norway spruce forests to air pollution and other stresses. Ambient concentrations of ozone (O(3)), sulfur dioxide (SO(2)), nitrogen oxides (NO(x)) as well as forest health and biodiversity changes were monitored on densely distributed research sites. Initial monitoring of pollutants indicated low levels of O(3), SO(2), and NO(x) in the Retezat Mountains, while elevated levels of O(3) and high deposition of atmospheric sulfur (S) and nitrogen (N) have characterized the Tatra Mountains. In the Retezat Mountains, air pollution seems to have little effect on forest health; however, there was concern that over a long time, even low levels of pollution may affect biodiversity of this important ecosystem. In contrast, severe decline of Norway spruce has been observed in the Tatra Mountains. Although bark beetle seems to be the immediate cause of that decline, long-term elevated levels of atmospheric N and S depositions and elevated O(3) could predispose trees to insect attacks and other stresses. European and US scientists studied pollution deposition, soil and plant chemistry, O(3)-sensitive plant species, forest insects, and genetic changes in the Retezat and Tatra Mountains. Results of these investigations are presented in a GIS format to allow for a better understanding of the changes and the recommendations for effective management in these two areas.     

The interaction between some human obstacles and birds

Some of the literature pertinent to the interactions of birds of flight and man made obstacles, such as transmission lines is reviewed here. Some birds use these towers, poles, and buildings for nesting and perches. They also collide with them. Original observations presented here suggest that the environmental impacts of these types of obstacles on birds, and vice-versa, seem not due to the inability of the birds to perceive the obstacles, but rather that the birds are apparently distracted from a safe flight pattern by their own species, or by others. Editor's Note: Although this paper is quite specialized in comparison with many other articles published in Environmental Management, I feel it is a very useful overview of the problems and the literature related to bird collisions with manmade obstacles. It is hoped that the information presented by the Willards will be helpful to other workers who are perhaps engaged in preparing environmental impact statements concerning structures that could invite bird collisions.     

Incorporating Uncertainty into Management Models for Marine Mammals

Abstract: Good management models and good models for understanding biology differ in basic philosophy. Management models must facilitate management decisions despite large amounts of uncertainty about the managed populations. Such models must be based on parameters that can be estimated readily, must explicitly account for uncertainty, and should be simple to understand and implement. In contrast, biological models are designed to elucidate the workings of biology and should not be constrained by management concerns. We illustrate the need to incorporate uncertainty in management models by reviewing the inadequacy of using standard biological models to manage marine mammals in the United States. Past management was based on a simple model that, although it may have represented population dynamics adequately, failed as a management tool because the parameter that triggered management action was extremely difficult to estimate for the majority of populations. Uncertainty in parameter estimation resulted in few conservation actions. We describe a recently adopted management scheme that incorporates uncertainty and its resulting implementation. The approach used in this simple management scheme, which was tested by using simulation models, incorporates uncertainty and mandates monitoring abundance and human-caused mortality. Although the entire scheme may be suitable for application to some terrestrial and marine problems, two features are broadly applicable: the incorporation of uncertainty through simulations of management and the use of quantitative management criteria to translate verbal objectives into levels of acceptable risk.