Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd.     

Biological Activity in a Heavily Organohalogen-Contaminated River Sediment (8 pp)

Background, Aims and Scope Sediments of the Spittelwasser creek are highly polluted with organic compounds and heavy metals due to the discharge of untreated waste waters from the industrial region of Bitterfeld-Wolfen, Germany over the course of more than one century. However, relatively few data have been published about the chloroorganic contamination of the sediment. This paper reports on the content of different (chloro)organic compounds with special emphasis on polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/F), and chlorobenzenes. Existing concepts for the remediation of Spittelwasser sediment include the investigation of natural attenuation processes, which largely depend on the presence of an intact microbial food web. In order to gain more insight in terms of biological activity, we analyzed the capacity of sediment microflora to degrade organic matter by measuring the activities of extracellular hydrolytic enzymes involved in the biogeochemical cycling of carbon, nitrogen, phosphorus and sulfur. Furthermore, the detection of physiologically active bacteria in the sediment, particularly of those known for their capability to reductively dehalogenate organochlorine compounds, illustrates the potential for intrinsic bioremediation processes. Methods PCDD/F and chlorobenzenes were analyzed by gas chromatography(GC)/mass spectrometry and GC/flame ionization detection, respectively. The activities of hydrolytic enzymes were determined from freshly sampled sediment layers using 4-methylumbelliferyl (MUF) or 7-amino-4-methylcoumarin-conjugated model compounds and kinetic fluorescence measurements. Physiologically active bacteria from different sediment layers were microscopically visualized by fluorescence in situ hybridization (FISH). Specific bacteria were identified by 16S rRNA gene amplification and sequencing. Results and Discussion The PCDD/F congener profile was dominated by dibenzofurans. In addition, the presence of specific tetra and pentachlorinated dibenzofurans supported the assumption that extensive magnesium production was one possible source for the high contamination. A range of other chloroorganic compounds, including several isomers of chlorobenzenes, hexachlorocyclohexane and 1,1,1-trichloro-2,2-bis (p-chloro-phenyl)ethane (DDT), was present in the sediment. Activities of extracellular hydrolytic enzymes showed a strong decrease in those sediment layers that were characterized by high contents of absorbable organic halogen (AOX), indicating disturbed organic matter decay. Interestingly, an abnormal increase of cellulolytic enzyme activities below the organochlorine-rich layers was observed, possibly caused by residual cellulose from discharges of sulfite pulping wastes. FISH revealed physiologically active bacteria in most sediment layers from the surface down to the depth of about 60 cm, including members of Desulfitobacterium (D.) and Sulfurospirillum. The presence of D. dehalogenans was confirmed by its partial 16S rRNA gene sequence. Conclusions Results of chemical sediment analyses demonstrated high loads of organochlorine compounds, particularly of PCDD/F. Several years after stopping the waste water discharge to Spittelwasser creek, this sediment remains a main source for pollution of the downstream river system by way of the ongoing mobilization of sediment during high floods. As indicated by our enzyme activity measurements, the decomposition potential for organic matter is low in organochlorine-rich sediment layers. In contrast, the comparably higher enzyme activities in less organochlorine-polluted sediment layers as well as the presence of physiologically active bacteria suggest a considerable potential for natural attenuation. Recommendations and Perspectives From our data we strongly recommend to explore the degradative capacity of sediment microorganisms and the limits for in situ activity towards specific sediment pollutants in more detail. This will give a sound basis for the integration of bioremediation approaches into general concepts to reduce the risk that permanently radiates from this highly contaminated sediment. Submission Editor: Dr. Henner Hollert (Henner.Hollert@urz.uniheidelberg.de)     

Phosphorus recovery from municipal and fertilizer wastewater: China's potential and perspective

Phosphorus (P) is a limited resource, which can neither be synthesized nor substituted in its essential functions as nutrient. Currently explored and economically feasible global reserves may be depleted within generations. China is the largest phosphate fertilizer producing and consuming country in the world. China''s municipal wastewater contains up to 293,163 Mg year of phosphorus, which equals approximately 5.5% of the chemical fertilizer phosphorus consumed in China. Phosphorus in wastewater can be seen not only as a source of pollution to be reduced, but also as a limited resource to be recovered. Based upon existing phosphorus-recovery technologies and the current wastewater infrastructure in China, three options for phosphorus recovery from sewage sludge, sludge ash and the fertilizer industry were analyzed according to the specific conditions in China.     

Coastal flooding,climate change and environmental justice: identifying obstacles and incentives for adaptation in two metropolitan Boston Massachusetts communities

We explored the possible future impacts of increased coastal flooding due to sea level rise and the potential adaptation responses of two urban, environmental justice communities in the metropolitan Boston area of Massachusetts. East Boston is predominantly a residential area with some industrial and commercial activities, particularly along the coastal fringe. Everett, a city to the north of Boston, has a diversified industrial and commercial base. While these two communities have similar socioeconomic characteristics, they differ substantially in the extent to which residents would be impacted by increased coastal flooding. In East Boston, a large portion of residents would be flooded, while in Everett, it is the commercial/industrial districts that are primarily vulnerable. Through a series of workshops with residents in each community, we found that the target populations do not have an adaptation perspective or knowledge of any resources that could assist them in this challenge. Furthermore, they do not feel included in the planning processes within their communities. However, a common incentive for both communities was an intense commitment to their communities and an eagerness to learn more and become actively engaged in decisions regarding climate change adaptation. The lessons that can be applied to other studies include 1) images are powerful tools in communicating concepts, 2) understanding existing cultural knowledge and values in adaptation planning is essential to the planning process and 3) engaging local residents at the beginning of the process can create important educational opportunities and develop trust and consensus that is necessary for moving from concept to implementation.     

Residual dynamics of thiacloprid in medical herbs marjoram, thyme, and camomile and in soil

Thiacloprid is a new insecticide of the chloronicotinyl family. To assess its risk after application, residual characteristics of thiacloprid in marjoram, thyme, and camomile and in soil were studied under field conditions. The active ingredient was extracted from the plant material using a mixture of acetone-water. After filtration, the extract was concentrated to the aqueous phase, diluted with water, and portioned against ethyl acetate on a matrix solid phase dispersion column. Thiacloprid was extracted from soil using a mixture of methanol-water, filtered, and re.extracted （clean up） with dichloromethane. The residues were quantified using HPLC-MS-MS. The methods were validated by recovery experiments. Thiacloprid residues in marjoram, thyme, and camomile and in soil persisted beyond 10, 14, 14, and 21 d but no residues were detected after 14, 21, 21, and 28 d, respectively. The data obtained in this study indicated that the biexponential model is more suitable than the first-order function to describe the decline of thiacloprid in fresh marjoram, fresh thyme, and dried camomile flowers with half-life （t1/2） of 1.1, 0.7, and 1.2 d, respectively. However, both the first-order function and biexponential model were found to be applicable for dissipation of thiacloprid in soil with almost the same t1/2 values of 3.5 and 3.6 d. The results indicated that thiacloprid dissipates rapidly and does not accumulate in the tested herbs and in soil.     

Distribution patterns of plants explained by human movement behaviour

Distribution patterns of plants are affected by human activities such as creation, destruction or modification of habitats. However, another important question is to what extent humans shape plant distributions by acting as dispersal vectors. In order to answer this question we developed a simulation model for the spread of plant species between human settlements. This was done on the basis of extensive sociological and ecological data on a regional scale. With regard to the sociological data, human movement behaviour defined the amount of exchange between the settlements. Gardening types represented the potential habitat in our model. The ecological data was derived from a vegetation survey carried out in 2003, which was a repeat of a survey between 1974 and 1981 along the same transects. From these surveys, we studied the distributions of 13 species in 67 settlements. In our model, the earlier survey provided the data for the initial distribution. The simulated pattern was consequently compared with the distribution pattern in 2003. In the model, dispersal kernels based on patterns of human movement between settlements led to a better match with the distribution patterns than a null model simulating pure distance dependent dispersal for all species. This was statistically significant for seven of the thirteen species. A striking result was that alien species seem to benefit more from human dispersal than native species. We emphasize the importance of the sociological data on human movement behaviour in parameterizing our regional scale model. This study provides quantitative evidence on the impact of human movement behaviour on the distribution of plant species in suburban areas.     

Human impacts on fire occurrence: a case study of hundred years of forest fires in a dry alpine valley in Switzerland

Forest fire regimes are sensitive to alterations of climate, fuel load, and ignition sources. We investigated the impact of human activities and climate on fire occurrence in a dry continental valley of the Swiss Alps (Valais) by relating fire occurrence to population and road density, biomass removal by livestock grazing and wood harvest, temperature and precipitation in two distinct periods (1904–1955 and 1956–2006) using generalized additive modeling. This study provides evidence for the role played by humans and temperature in shaping fire occurrence. The existence of ignition sources promotes fire occurrence to a certain extent only; for example, high road density tends to be related to fewer fires. Changes in forest uses within the study region seem to be particularly important. Fire occurrence appears to have been negatively associated with livestock pasturing in the forest and wood harvesting, in particular during the period 1904–1955. This study illustrates consistently how fire occurrence has been influenced by land use and socioeconomic conditions. It also suggests that there is no straightforward linear relationship between human factors and fire occurrence.     

Compliance and Emissions Trading under the Kyoto Protocol: Rules for Uncertain Inventories

A solution is proposed for proving compliance with emission targets and for emissions trading in the event of uncertainties in reported emission inventories. The solution is based on the undershooting concept, from which the mathematical conditions for both proving compliance with a risk α and calculating effective emissions for trading are derived. Based on the reported emission units, the number of permits granted is reduced in proportion to the uncertainty in the inventory. A country whose inventory has higher uncertainty is thereby allotted fewer permits than a country with the same inventory but smaller uncertainty.     

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.