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.     

Exposure to radiation from global system for mobile communications at 1,800 MHz significantly changes gene expression in rat hippocampus and cortex

We have earlier shown that radio frequency electromagnetic fields can cause significant leakage of albumin through the blood–brain barrier of exposed rats as compared to non-exposed rats, and also significant neuronal damage in rat brains several weeks after a 2 h exposure to a mobile phone, at 915 MHz with a global system for mobile communications (GSM) frequency modulation, at whole-body specific absorption rate values (SAR) of 200, 20, 2, and 0.2 mW/kg. We have now studied whether 6 h of exposure to the radiation from a GSM mobile test phone at 1,800 MHz (at a whole-body SAR-value of 13 mW/kg, corresponding to a brain SAR-value of 30 mW/kg) has an effect upon the gene expression pattern in rat brain cortex and hippocampus—areas where we have observed albumin leakage from capillaries into neurons and neuronal damage. Microarray analysis of 31,099 rat genes, including splicing variants, was performed in cortex and hippocampus of 8 Fischer 344 rats, 4 animals exposed to global system for mobile communications electromagnetic fields for 6 h in an anechoic chamber, one rat at a time, and 4 controls kept as long in the same anechoic chamber without exposure, also in this case one rat at a time. Gene ontology analysis (using the gene ontology categories biological processes, molecular functions, and cell components) of the differentially expressed genes of the exposed animals versus the control group revealed the following highly significant altered gene categories in both cortex and hippocampus: extracellular region, signal transducer activity, intrinsic to membrane, and integral to membrane. The fact that most of these categories are connected with membrane functions may have a relation to our earlier observation of albumin transport through brain capillaries.     

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.     

Invasion of Pinus halepensis Mill. following a wildfire in an Argentine grassland nature reserve

The Ernesto Tornquist nature reserve is a relict of native Pampas vegetation in Argentina. Alien trees were introduced to the reserve in the 1950s, mainly to "improve" the natural landscape, resulting in the arrival of a totally new life form. In 1987, a fire affected an area planted with Pinus halepensis resulting in its massive expansion. In 1999, we removed trees from 17 circular plots of 10 m diameter placed systematically within the area that was colonized after the fire. Trunks were cut 20 cm from the ground and growth rings were counted. We studied the age structure of the population in order to reconstruct the colonizing events after the fire. We found that recruitment occurred throughout this period, except in the three years after the disturbance. We suggest that this delay in recruitment might be caused by low seedling survival under water stress conditions due to low rainfall, combined with scarce vegetation cover after fire. This could have been associated with an initial reduction in propagule pressure due to the scarcity of surviving trees in the vicinity and with the fact that fire occurred after the peak of seed release, during an extremely dry summer, probably killing a great number of seeds that were already in the soil. In the following years, recruitment was probably aided by pioneer trees and later by seeds shed from established pines. Alien trees had been allowed to reach maturity due to wildfire prevention and control in the years preceding the fire and the accumulated dry matter resulted in increased fire intensity that reduced the ability of grasses to re-sprout. As a consequence, the invasion window that allowed the expansion of pines remained open for at least 12 years.     

Measuring bed shear stress along vegetated river beds using FST-hemispheres

The measurement of the bed shear stress along vegetated river beds is essential for accurately predicting the water level, velocity and solute and sediment transport fluxes in computational hydroenvironmental models. Details are given herein of an experimental and theoretical study to determine the bed boundary shear stress along vegetated river beds introducing a novel field measuring method, namely the FliessWasserStammtisch (FST)-hemispheres. Although investigations have been conducted previously for sedimentary channels using the FST-hemispheres, this preliminary study is thought to be the first time that such hemispheres have been used to investigate the bed shear stresses in vegetated channels. FST-hemispheres were first developed by Statzner and Müller [1989. Standard hemispheres as indicators of flow characteristics in lotic benthos research. Freshwater Biology 21, 445-459] to act as an integrated indicator of the gross hydrodynamic stresses present near the bed. Test and validation data were found to be at least of the same order of magnitude for the stresses predicted from literature for sedimentary channels, with this study establishing the commencement of a database of calibrated FST-hemisphere laboratory data for vegetated channel beds. In a series of experiments, depths ranging from 0.1 to 0.28m were considered, equating directly to comparable conditions in small rivers or streams. The results of this study provide a basis for enabling the FST-hemispheres to be used to evaluate the boundary shear stress for a wider range of applications in the future, including vegetated river beds.     

Proposal for the integration of decentralised composting of the organic fraction of municipal solid waste into the waste management system of Cuba

Municipal solid waste (MSW) generation and management in Cuba was studied with a view to integrating composting of the organic fractions of MSW into the system. Composting is already included as part of the environmental strategy of the country as an appropriate waste management solution. However, no programme for area-wide implementation yet exists. The evaluation of studies carried out by some Cuban and international organisations showed that organic matter comprises approximately 60-70% of the MSW, with households being the main source. If all organic waste fractions were considered, the theoretical amount of organic waste produced would be approximately 1 Mio. Mg/a, leading to the production of approximately 0.5 Mio. Mg/a of compost. Composting could, therefore, be a suitable solution for treating the organic waste fractions of the MSW. Composting would best be carried out in decentralised systems, since transportation is a problem in Cuba. Furthermore, low technology and low budget composting options should be considered due to the problematic local economic situation. The location for such decentralised composting units would optimally be located at urban agricultural farms, which can be found all over Cuba. These farms are a unique model for sustainable farming in the world, and have a high demand for organic fertiliser. In this paper, options for the collection and impurity-separation in urban areas are discussed, and a stepwise introduction of source-separation, starting with hotel and restaurant waste, is suggested. For rural areas, the implementation of home composting is recommended.     

Paleosols of the Solonchanka IX site and climate of the Transural steppe zone in the fourth century AD

Studies on paleosols under an archaeological landmark of a rare type (a complex of kurgans with “whiskers”) dating from the Early Iron Age (the fourth century AD) have been performed in the steppe zone of the Transural Plateau. The size and shape of third-order soil polygons under stony ridges (“whiskers”) between the kurgans have been described in detail. The results have shown that the paleosol under the kurgans erected at the turn of the Late Sarmatian and Hun times (1600 years ago) is characterized by a higher humus content and deeper location of the carbonate horizon, compared to the recent soil. This indicates that an increase in atmospheric humidity took place in the fourth century AD.     

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.     

Partitioning and removal of perfluorooctanoate during rain events: the importance of physical-chemical properties

The potential for airborne emissions to undergo long-range transport or to be removed from the atmosphere is influenced by their physical-chemical properties. When perfluorooctanate (PFO) enters the environment, its physical-chemical properties can vary significantly, depending on whether it exists as an acid, a salt, or a dissociated ion. A summary of the physical-chemical properties of the three most likely environmental states: ammonium perfluorooctanoate (APFO), perfluorooctanoic acid (PFOA) and the dissociated perfluorooctanoate anion (PFO(-)) is presented to illustrate the distinct environmental properties of each. The most volatile species, PFOA, is shown to have a pH-dependent air-water partitioning coefficient (K(aw)). The variability of K(aw) with pH influences the potential for vapor formation from aqueous environments, including rain events. Using the pH-dependent K(aw) and measured rain and air concentrations, it is shown that vapor-phase PFOA is not likely to be present above measurable levels of 0.2 ng m(-3) (12 parts per quadrillion v/v) during a rain event. Because rain concentrations determined in this work are comparable to measurements in other parts of North America, it is unlikely that rain events are a significant source of vapor-phase PFOA for the general North American region. It is shown that PFOA exists primarily in the particle phase in ambient air near direct sources of emissions and is efficiently scavenged by rain droplets, making wet deposition an important removal mechanism for emissions originating as either PFOA or APFO. Washout ratios of particle-associated PFO were determined to range between 1 x 10(5) and 5 x 10(5), in the same range as other semi-volatile compounds for which wet deposition is an important mechanism for atmospheric removal and deposition onto soils and water bodies.