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.     

Tolerance of calluna vulgaris and peatland plant communities to sulphuric acid deposition

Critical loads offer a unique way of evaluating impacts of acid deposition by quantifying environmental sensitivity. The critical loads of acidity for UK peat soils have been based upon an arbitrary reduction in pH of 0.2 units. This chemical shift needs to be better related to adverse effects on sensitive biological receptors. It is known that effective precipitation pH equates closely to soil solution pH, and the latter is directly linkable to biotic effects of pH change. On continuation of a long-term experiment assessing impacts of simulated acid rain on peat microcosms in a realistic outdoor environment, Calluna vulgaris continued to flourish at acid deposition loads well above the existing critical load. Calluna plants were harvested and analysed, and acid deposition treatments to the microcosms continued to allow natural vegetation to regenerate. A diverse mixture of moorland plants and bryophytes established at acidity treatments well above the existing critical load, and only a very high acid load resulted in no natural regeneration. A critical effective rain pH value of 3.6 is suggested as a basis for setting critical loads. At this pH, Calluna grows well, and a healthy diverse vegetation community re-establishes when harvested. It is suggested that the peat critical load should be set at the acid load that, at any specific site, would result in a mean effective precipitation pH of 3.6.     

Methodological Basis of Ecological Safety Standards for the Technogenic Impact of Mineral Resource Exploitation

A new methodological approach to the development of biological and technological safety standards for the impact of underground mining on the natural biota is proposed.     

Biological productivity of bogs in the middle taiga subzone of Western Siberia

New experimental data on biological productivity of plant communities in oligotrophic and mesotrophic bogs of the middle taiga subzone over the past five years are presented. The relationship between net primary production and the stock of live phytomass is estimated. The stock of necromass in oligotrophic bog ecosystems increases from west to east, while the stock of live phytomass and net primary production decrease.     

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil: results of the IAEA–UNESCO SGD project

Results of groundwater and seawater analyses for radioactive (³H, ²²²Rn, ²²³Ra, ²²⁴Ra, ²²⁶Ra, and ²²⁸Ra) and stable (D and ¹⁸O) isotopes are presented together with in situ spatial mapping and time series ²²²Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d⁻¹ to 360 cm d⁻¹; the unit represents cm³/cm²/day), as well as during a few hours (from 0 cm d⁻¹ to 110 cm d⁻¹), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous ²²²Rn measurements is 17 ± 10 cm d⁻¹. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 10³ m³ d⁻¹ per km of the coast. The isotopic composition (δD and δ¹⁸O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of ²²²Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.     

Destruction of Aspergillus versicolor,Penicillium chrysogenum,Stachybotrys chartarum,and Cladosporium cladosporioides spores using chemical oxidation treatment process

The survival of aqueous suspensions of Penicillium chrysogenum, Stachybotrys chartarum, Aspergillus versicolor, and Cladosporium cladosporioides spores was evaluated using various combinations of hydrogen peroxide and Fe²⁺ as catalyst. Spore concentrations of 10⁶–10⁷ colony forming units per milliliter (CFU/mL) were suspended in water and treated with initial hydrogen peroxide and iron concentrations ranging from 0.05 to 10 percent and 100 to 200 ppm, respectively. After four hours of reaction time, samples were plated on agar plates, and the viable fraction of spores was determined by the number of colonies formed. Hydrogen peroxide concentrations above 50,000 ppm resulted in greater than 6‐log₁₀ reduction of viable spores for both catalyzed and noncatalyzed reactions. Iron had a strong catalytic effect when added to solutions with hydrogen peroxide concentration above 5,000 ppm and resulted in two to three orders of magnitude greater reduction compared to hydrogen peroxide alone. Additional samples taken after 24 hours of reaction time showed that the effect of the addition of 100 and 200 ppm of Fe²⁺ catalyst was mostly kinetic, and noncatalyzed hydrogen peroxide had sporicidal effects similar to catalyzed hydrogen peroxide. This study identified initial reagent concentrations of hydrogen peroxide and Fe²⁺ that accomplish a 6‐log₁₀ reduction of viable mold spores within reaction times of 4 and 24 hours. © 2007 Wiley Periodicals, Inc.     

Sustainable Development and Strategic Thinking

From an economic point of view, the industrial economy is efficient to overcome situations of a scarcity of goods. From a technological point of view, the resource efficiency of the manufacturing processes of the industrial economy has been permanently improved during the last 200 years. In addition, cleaner processes have been developed. However, from an ecologic point of view, an increasing world population with increasing consumption has produced a ＂global footprint＂ which approaches the carrying capacity of the planet. A circular economy and its high-value spin-offs-a lake economy and a performance or functional service economy-can fulfil customers＇ needs with considerably less resource consumption, less environmental impairment in production and considerably less end-of-life product waste, especially in situations of affluence, when a considerable stock of physical goods and infrastructures exists. Also, in situations of a scarcity of natural resources, both energy and materials, often characterised by rapidly rising resource prices, the economic actors of a circular economy have a high competitive advantage over the actors of the industrial economy, due to much lower procurement costs for materials and energy. From a social point of view, a circular economy increases the number of skilled jobs in regional enterprises. However, the shift from a linear manufacturing economy to a circular or service economy means a change in economic thinking from flow （throughput） management to stock （asset） management： in a manufacturing economy with largely unsaturated markets, total wealth increases through accumulation as resource throughput （flow） is transformed into a higher stock of goods of better quality （but in a manufacturing economy with largely saturated markets, wealth represented by the stock of goods will no longer increase）; in a circular or service economy, total wealth increases through a smart management of existing physical assets （stock） that are adapted to changes in both technology and customer demand. This second approach not only applies to physical capital but equally to social capital, such as health and education and green GDP. To measure the social wealth of a population, it is not the amount of money spent on schools and hospitals that matters, butif this expenditure has led to a better education of the students, and a better health of the people.