Prenatal diagnosis of Huntington's disease (HD): Experiences with six cases and PCR

In the course of a 2-year predictive testing programme for Huntington's disease (HD), six couples from a total of 52 applicants requested prenatal testing. In each case, the pregnancy was in the first or second trimester when the couples were referred for DNA diagnosis. In five cases, exclusion testing was offered; in one case, a person at risk with an increased risk of being a gene carrier requested prenatal diagnosis. In all cases, informative markers for prenatal testing could be determined. Whenever possible, the newer technique of polymerase chain reaction (PCR) for D4S125 was applied to perform rapid prenatal diagnosis. Two couples withdrew before chorionic villus sampling was undertaken; prenatal diagnosis was completed in the remaining four cases. After exclusion testing, two pregnancies were determined to have an increased risk and two fetuses to have a low risk of being HD gene carriers.     

Assessing the toxicity and teratogenicity of pond water in north-central minnesota to amphibians

BACKGROUND: Incidence of amphibian deformities have increased in recent years, especially in the northern region of the United States. While many factors have been proposed as being responsible for generating deformities (e.g., contaminants, ultraviolet radiation [UV], parasites), no single cause has been definitively established. METHODS: To determine whether waterborne chemicals are responsible for amphibian deformities in ponds in north-central Minnesota, we deployed semipermeable membrane devices (SPMDs) in an impacted and a reference site to accumulate lipophilic contaminants. We then exposed native tadpoles (northern leopard frogs; Rana pipiens) to the SPMD extracts combined with two agricultural pesticides (atrazine, carbaryl) at two levels of UV radiation. RESULTS AND DISCUSSION: UV radiation alone caused a slight increase in hatching success and tadpole growth rate. Deformity rate among hatchlings was high following exposure to SPMD extracts from the reference site in the absence of UV, suggesting that chemicals present at this site are broken down by UV to less harmful forms, or become less bioavailable. Conversely, impacted site SPMD extracts caused hatchling deformities only in the presence of UV, suggesting that UV potentiates the teratogenicity of the compounds present there. Impacted site SPMD extracts significantly increased the number of bony triangles among metamorphs, a common deformity observed at this site. The incidence of skin webbings increased significantly with SPMD extracts from both sites as well as with our pesticide control containing atrazine and carbaryl alone. CONCLUSIONS: Higher deformity rates among tadpoles reared in the presence of UV radiation and SPMD extracts from sites where deformities are common indicates a chemical compound (or compounds) in the water at this site may be causing the deformities. RECOMMENDATIONS AND OUTLOOK: It is important to examine the effects of chemical stressors in the presence of other natural stressors (e.g., UV radiation) to gain a better understanding of how multiple stressors work to impact amphibians and amphibian populations.     

Dynamic modelling of recovery from acidification of lakes in Killarney Park,Ontario, Canada

During much of the 1900s, the lakes in Killarney Provincial Park have been exposed to high levels of acid deposition due to sulfur emissions from the nearby metal smelters in Sudbury. The sulfur emissions from this large point source have decreased to about 10% of what they were in the 1960s. Lake water quality in Killarney Park has greatly changed in response to reduced emissions, with noticeable declines in sulfate, aluminum and calcium concentrations. Here we apply the dynamic acidification model MAGIC to 3 lakes in Killarney Park. The lakes, which have different buffering capacities and response times, were selected to represent fast, intermediate and slow recovery from acidification. The model was calibrated to match observed data for the lakes and 4 different forecast scenarios for future sulfur deposition reductions were applied. The results indicate that there is still a large potential for improvement in the water quality in Killarney. The recovery time for the different lakes varies greatly. For the lake having the slowest response time several decades are needed for the chemistry to stabilize after implementation of deposition reductions.     

Ingestion of pico- and nanoplankton by the Mediterranean red coral Corallium rubrum

This study investigates the feeding behaviour of the precious red coral Corallium rubrum on bacterioplankton. The effects of flow rate, prey concentration, and seawater temperature were tested. The results obtained show that C. rubrum was able to prey on both pico- and nanoplankton cells. Flagellates constituted the major bacterioplankton food source in terms of carbon and nitrogen, representing from 43 to 70% of the C and N ingested. Flow speed (2, 6, and 11 cm s⁻¹) had no effect on grazing rates, maybe due to the small size of the ingested particles. Conversely, feeding rates increased with prey concentration and seawater temperature. There was a doubling of the picoplankton ingestion rate for a sixfold increase in its concentration. The ingestion of autotrophic flagellates, however, increased at the same time as their concentration, indicating a preference for this type of food. Considering the range of concentrations typically found in the Ligurian Sea, the ingestion of pico- and nanoplankton brings 148 ng C polyp⁻¹ day⁻¹ and 28 ng N polyp⁻¹ day⁻¹. This type of food represents only ca. 4.5% of the total carbon gained by C. rubrum from the different sources, but might be the most important in terms of nitrogen, phosphorus, and other essential elements.     

Cross-boundary issues for national parks: What works “on the ground”

In recent years, cross-boundary management has become an essential part of park management. In this article we compare the perspectives of managers of several US national parks to the advice on this issue presented in the published literature. Data were obtained from interviews of the superintendents, assistant superintendents and resources managers of five major western national parks and from a survey of participants in a NPS workshop attended by park superintendents, scientists, and resource managers; law enforcement personnel; and interpreters. Three themes related to boundary management were consistently stressed by park managers: (10 a lack of sufficient funds and personnel within the parks; (2) the need for reliable information on both political and natural processes; and, (3) the importance of personal interactions between park staff and individuals from the surrounding area. Basic data collection, the documentation of trends, cooperative groups and personal contacts, educational programs, and land acquisition were the most useful strategies. A lack of funds and information, ineffective communication, enforcement problems, and a lack of motivation for parties to reach a negotiated agreement were the most serious obstacles. A wide range of valuable institutional knowledge concerning boundary management exists within the National Park Service; however, there appears to be a gap between published strategies and the approaches that work “on the ground”.     

Bewertung der Auswirkungen von Pflanzenschutzmitteln auf Regenwürmer

The fundamental data requirements for the authorization of plant protection products and the inclusion of active ingredients in Annex I of Council Directive 91/414/EEC are described in Annexes II and III of the Directive. The uniform principles for the registration of plant protection products in the Member States described in Annex VI of the Directive were primarily developed to assess the effects on the soil functions with regard to agriculture. A tiered approach was developed to assess the effects of plant protection products on earthworms based on the data requirements of Annex II and III of Directive 91/414/EEC. The risk is assessed using the effect-concentration evaluated in ecotoxicological tests and the predicted or calculated environmental concentration. To protect the whole range of naturally occurring species in terrestrial biocenosis assessment factors need to be considered.     

Using ADMS models for Air Quality Assessment and Management in China

1 INTRODUCTION Many cities and regions are undertaking studies of air quality in cities to determine both the current state of the environment and the effect of future economic and environmental strategies in order to manage local air quality. Often these studies are driven by legislation such as the European Union requirement to model agglomerations or the Chinese requirements to study air quality capacity and to forecast air quality. ADMS-Urban is the most widely used advanced dispers…     

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08–1.15) and the 24–28 weeks premature delivery rate was 0.40% (95% CI=0.39–0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41–0.43 and 0.24% with 95% CI 0.23–0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study. Copyright © 2002 John Wiley & Sons, Ltd.