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)     

Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi

Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.     

Runoff phosphorus losses from surface-applied biosolids

Runoff losses of dissolved and particulate phosphorus (P) may occur when rainfall interacts with manures and biosolids spread on the soil surface. This study compared P levels in runoff losses from soils amended with several P sources, including 10 different biosolids and dairy manure (untreated and treated with Fe or Al salts). Simulated rainfall (71 mm h(-1)) was applied until 30 min of runoff was collected from soil boxes (100 x 20 x 5 cm) to which the P sources were surfaced applied. Materials were applied to achieve a common plant available nitrogen (PAN) rate of 134 kg PAN ha(-1), resulting in total P loading rates from 122 (dairy manure) to 555 (Syracuse N-Viro biosolids) kg P ha(-1). Two biosolids produced via biological phosphorus removal (BPR) wastewater treatment resulted in the highest total dissolved phosphorus (13-21.5 mg TDP L(-1)) and total phosphorus (18-27.5 mg TP L(-1)) concentrations in runoff, followed by untreated dairy manure that had statistically (p = 0.05) higher TDP (8.5 mg L(-1)) and TP (10.9 mg L(-1)) than seven of the eight other biosolids. The TDP and TP in runoff from six biosolids did not differ significantly from unamended control (0.03 mg TDP L(-1); 0.95 mg TP L(-1)). Highest runoff TDP was associated with P sources low in Al and Fe. Amending dairy manure with Al and Fe salts at 1:1 metal-to-P molar ratio reduced runoff TP to control levels. Runoff TDP and TP were not positively correlated to TP application rate unless modified by a weighting factor reflecting the relative solubility of the P source. This suggests site assessment indices should account for the differential solubility of the applied P source to accurately predict the risk of P loss from the wide variety of biosolids materials routinely land applied.     

Hexabromocyclododecane diastereomers in fish and suspended particulate matter from selected European waters—trend monitoring and environmental quality standard compliance

The brominated flame retardant hexabromocyclododecane (HBCD) was monitored in fish and sediment (from one lake) or suspended particulate matter (SPM; from five rivers) at European freshwater sites to study the effects of reduction measures implemented by HBCD producers and users in recent years. Bream (Abramis brama) were sampled annually between 2007 and 2013 in the rivers Götaälv/SE, Rhône/FR, Western Scheldt/NL, Mersey/UK, and Tees/UK and in Lake Belau/DE. Sediment/SPM was taken every second year between 2008 and 2014. HBCD was analyzed by LC/MS/MS allowing the determination of the alpha-, beta-, and gamma-diastereomers. For most sites, a decrease in ∑HBCD was observed in fish (e.g., in the Rhône and Western Scheldt by about 80 and 60%, respectively, with significantly decreasing trends, p < 0.01). In the Rhône, HBCD also decreased in SPM. At the sampling site in the Tees which was impacted by a former HBCD point source, fish HBCD levels decreased only after a major flood event in 2013. While fish data indicate a decline in environmental HBCD concentrations at most sites with diffuse emissions, SPM data were less conclusive. The European environmental quality standard for HBCD in fish of 167 μg kg^?1 wet weight was met by all fish samples in 2013.     

Hydroponic root mats for wastewater treatment—a review

Hydroponic root mats (HRMs) are ecotechnological wastewater treatment systems where aquatic vegetation forms buoyant filters by their dense interwoven roots and rhizomes, sometimes supported by rafts or other floating materials. A preferential hydraulic flow is created in the water zone between the plant root mat and the bottom of the treatment system. When the mat touches the bottom of the water body, such systems can also function as HRM filter; i.e. the hydraulic flow passes directly through the root zone. HRMs have been used for the treatment of various types of polluted water, including domestic wastewater; agricultural effluents; and polluted river, lake, stormwater and groundwater and even acid mine drainage. This article provides an overview on the concept of applying floating HRM and non-floating HRM filters for wastewater treatment. Exemplary performance data are presented, and the advantages and disadvantages of this technology are discussed in comparison to those of ponds, free-floating plant and soil-based constructed wetlands. Finally, suggestions are provided on the preferred scope of application of HRMs.     

Long-term change in drivers of forest cover expansion: an analysis for Switzerland (1850-2000)

Regional Environmental Change - The spatial distribution of forests in Europe represents the legacy of centuries of human land use decisions. Due to the limited availability of historical data,...     

Formation of indoor nitrous acid (HONO) by light-induced NO<Subscript>2</Subscript> heterogeneous reactions with white wall paint

Gaseous nitrogen dioxide (NO₂) represents an oxidant that is present in relatively high concentrations in various indoor settings. Remarkably increased NO₂ levels up to 1.5 ppm are associated with homes using gas stoves. The heterogeneous reactions of NO₂ with adsorbed water on surfaces lead to the generation of nitrous acid (HONO). Here, we present a HONO source induced by heterogeneous reactions of NO₂ with selected indoor paint surfaces in the presence of light (300 nm?<?λ?<?400 nm). We demonstrate that the formation of HONO is much more pronounced at elevated relative humidity. In the presence of light (5.5 W m^?2), an increase of HONO production rate of up to 8.6?·?10⁹ molecules cm^?2 s^?1 was observed at [NO₂]?=?60 ppb and 50 % relative humidity (RH). At higher light intensity of 10.6 (W m^?2), the HONO production rate increased to 2.1?·?10¹⁰ molecules cm^?2 s^?1. A high NO₂ to HONO conversion yield of up to 84 % was observed. This result strongly suggests that a light-driven process of indoor HONO production is operational. This work highlights the potential of paint surfaces to generate HONO within indoor environments by light-induced NO₂ heterogeneous reactions.