First trimester prenatal diagnosis of haemophilia A: Two years' experience

We evaluated the feasibility, reliability, and acceptability of prenatal diagnosis of haemophilia A by DNA analysis of chorionic villi. Twenty-two women at risk to transmit the abnormal gene were referred for prenatal diagnosis, two of them twice. Two of the 22 women appeared to be non-carriers by DNA analysis. In one of these women, the results were known only after chorionic villus sampling had been carried out. Thirteen of the twenty carriers were heterozygous for an intragenic (Bell or Xbal) marker; six women were only heterozygous for the extragenic DXS52 (Stl4) locus. One of the women was homozygous for all the presently known DNA markers within or closely linked with the factor VIII locus. Twelve of the 22 fetuses at risk were male, ten were female. Seven of the 12 male fetuses were shown to be affected and were subsequently aborted. Four male fetuses appeared to be not affected. In one case, the diagnosis was made by use of an extragenic marker. The woman rejected fetal blood sampling to confirm the diagnosis. After birth, a normal factor VIII level was found in three of the four cases. The fourth pregnancy is still continuing. In one of the 12 male fetuses, no diagnosis at the gene level was possible. DNA analysis is expected to provide maximum certainty as to the phenotype of the fetus for approximately 60 per cent of the women; for another 37 per cent a rate of misdiagnosis of 4–5 per cent applies. In only 3 per cent of the cases will no diagnosis at the gene level be possible as yet. The new possibility of a prenatal diagnosis in the first trimester of pregnancy enabled some of these women to have a family of their own and was appreciated in particular by the women who underwent fetoscopy in an earlier pregnancy.     

Impact of the use of waste on trace element concentrations in cement and concrete.

The results of model calculations carried out to identify and quantify the input pathways of trace elements into cement and concrete and to estimate the extent to which trace element concentrations in cement may change due to waste utilization are presented. As expected, primary raw materials represented the most important input pathway for trace elements into cement, but the contribution from wastes was not negligible. The use of waste led to a slight increase of the concentrations of cadmium, antimony and zinc in cement. For cobalt, lead and vanadium, this increase was less distinct and for all other trace elements considered, the effect of the use of wastes on trace element concentrations in cement could not be demonstrated clearly. The trace element content of concrete was governed by the aggregates for most elements considered. However, for arsenic, cadmium, lead and zinc, both cement and the additive coal fly ash contributed noticeably to the total trace element concentration in the concrete.     

Nachhaltige Entwicklung von Managementstrategien: Multikriterielle Bewertungs- und Entscheidungshilfe-Instrumente im Umweltbereich

Zur Unterstützung von Bewertungs- und Entscheidungsprozessen über die Nachhaltigkeit von Managementstrategien, deren Auswirkungen durch unterschiedlich dimensionierte Indikatoren gemessen werden, gibt es verschiedene mathematische Methoden. In diesem Beitrag werden die Prinzipien dieser sog. multikriteriellen Bewertungs- und Entscheidungshilfeinstrumente beispielhaft anhand einer Auswahl von Strategien für ein Nachhaltiges Wassermanagement vorgestellt, sowie Vor- und Nachteile herausgearbeitet. Es wird gezeigt, dass sich die Verfahren insbesondere in Transparenz, Objektivit?t und durch den Grad an Partizipation durch Akteure z.T. erheblich unterscheiden. W?hrend die Hassediagrammtechnik sich an den naturwissenschaftlich begründbaren Datenmatrix orientiert und somit eine objektive und transparente Bewertung und Datenanalyse liefert, haben Konkordanzanalyse, Nutzwertanalyse, PROMETHEE und AHP ihre St?rken in der M?glichkeit, Akteure bzw. Stakeholder am Entscheidungsprozess partizipieren zu lassen. *** DIRECT SUPPORT *** A00OI029 00003     

Ecological scenarios analyzed and evaluated by a shallow lake model

We applied the complex ecosystem model EMMO, which was adopted to the shallow lake Müggelsee (Germany), in order to evaluate a large set of ecological scenarios. By means of EMMO, 33 scenarios and 17 indicators were defined to characterize their effects on the lake ecosystem. The indicators were based on model outputs of EMMO and can be separated into biological indicators, such as chlorophyll-a and cyanobacteria, and hydro-chemical indicators, such as phosphorus. The question to be solved was, what is the ranking of the scenarios based on their characterization by these 17 indicators? And how can we handle high quantities of complex data within evaluation procedures? The scenario evaluation was performed by partial order theory which, however, did not provide a clear result. By subsequently applying the hierarchical cluster analysis (complete linkage) it was possible to reduce the data matrix to indicator and scenario representatives. Even though this step implies losses of information, it simplifies the application of partial order theory and the post processing by METEOR. METEOR is derived from partial order theory and allows the stepwise aggregation of indicators, which subsequently leads to a distinct and clear decision. In the final evaluation result the best scenario was the one which defines a minimum nutrient input and no phosphorus release from the sediment while the worst scenario is characterized by a maximum nutrient input and extensive phosphorus release from the sediment. The reasonable and comprehensive results show that the combination of partial order, cluster analysis and METEOR can handle big amounts of data in a very clear and transparent way, and therefore is ideal in the context of complex ecosystem models, like that we applied.     

Initial Changes in Refilled Lysimeters Built with Metal Polluted Topsoil and Acidic or Calcareous Subsoils as Indicated by Changes in Drainage Water Composition

Soil translocation for recultivation of soil removed from construction sites and for the preparation of refilled lysimeters inevitably involves disturbance of soil structure, and, if intermediate storage is included, also drying and rewetting of the soil. We report on an experiment with model forest ecosystems, where uncontaminated forest subsoils were covered with non-contaminated or freshly heavy metal (mainly Zn and Cu) contaminated topsoil in large lysimeters. Monitoring of the chemical composition of the drainage water revealed two distinct soil conditioning phases. During an initial phase of about a year strongly elevated nitrate and sulfate concentrations occurred that were attributed to a mineralisation flush caused by the increased accessability of mineralisable nitrogen and sulfur in destroyed aggregates. These effects were significantly larger in lysimeters with calcareous subsoil than in those with acidic subsoil. The second phase was characterised by a gradual decrease in dissolved organic carbon and sulfate concentrations, in particular in the acidic subsoil. This decrease may be attributed to the depletion of pools made accessible during aggregate destruction or the formation of new aggregates. These chemical changes had only little effects on the concentrations of copper and zinc in the drainage water. Based on our results, it can be concluded that large refilled lysimeters can be used for many purposes without risk of compromised results, if a conditioning phase of about 1 year with sufficiently moist soil conditions is respected. Nevertheless, gradual changes in soil chemical characteristics still occur after this initial phase. Implications for the recultivation of sites using relocated soils are discussed.     

Integrating energy efficiency performance in production management – gap analysis between industrial needs and scientific literature

For governments and for manufacturing companies, global warming, rising energy prices, and customers’ increasing ecological awareness have pushed energy efficient manufacturing to the top of the agenda. Governments and companies are both striving to identify the most effective measures to increase energy efficiency in manufacturing processes. Based on results of a recent EU-funded roadmapping project, this paper highlights the needs of industrial companies for integrating energy efficiency performance in production management. First, it analyses concepts and tools for measurement, control and improvement of energy efficiency in production management proposed in literature. Second, the paper outlines that ICT tools and standardization are important enablers for energy efficient manufacturing. Third, industrial needs in these areas are presented based on expert interviews. The industrial needs thus identified are contrasted with concepts proposed in literature to point out the implementation gaps between practice and theory. The paper demonstrates that there exists a gap between the solutions available and the actual implementation in industrial companies. It concludes by deriving requirements for energy management in production that future collaborative research projects should address.