Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.     

Using diatoms to assess the impacts of prehistoric, pre-industrial and modern land-use on Danish lakes

The impact of contemporary agriculture on Danish lakes is acknowledged to be extreme. In particular, high loading of nutrients from agricultural soils contributes to the eutrophic conditions found in many of Denmark’s lakes. Palaeolimnological studies have shown that human disturbance of the Danish landscape since the introduction of agriculture around 6,000 years ago has had a major impact on lake ecosystems. The European Union’s Water Framework Directive requires an evaluation of reference conditions for lakes, the conditions expected with only minimal human impact. Monitoring data and palaeolimnological studies of Danish lakes demonstrate that many of the most detrimental effects of eutrophication have been experienced in recent decades. A new study has suggested that the reference status for Danish lakes may be set to the status in ad 1850–1900, probably providing attainable, realistic restoration targets for many sites. The aims of this study were to explore the impacts of past and contemporary land-use on Danish lakes, and to consider how appropriate the use of 1850 as a date to define reference status is for these sites. Catchment land-cover data for ad 1800, taken from historical maps, and sedimentary diatom assemblages of the same age, from dated sediment cores, were used to assess the impact of pre-industrial land-use on 20 Danish lakes. Analysis of contemporary land-cover data and surface-sediment diatom assemblages for the 20 sites was also made. In-lake total phosphorus (TP) concentrations were estimated using the sedimentary diatom assemblages and an existing calibration dataset for Danish lakes. The percentage of the lake catchment that was agricultural land in ad 1800 explained 8.8% of the total variation in the diatom data. The land-cover variables ‘built-up areas’ and ‘plantations’, together explained 16.9% of the variation in the diatom data for the modern samples. Diatom-inferred TP concentrations were high for both ad 1800 (mean 112 μg TP L⁻¹) and the present (mean 122 μg TP L⁻¹), the latter estimates reflecting efforts in recent decades to reduce nutrient loading to Danish lakes following very high levels of nutrient enrichment post-1950. The data presented highlight the impact that human activities 200 years ago, particularly agriculture, had on Danish lake systems. The long cultural history and major anthropogenic disturbance of the Danish landscape mean that true reference conditions for lakes (or ‘baseline’ conditions, those found prior to human impacts) can be found only by considering century to millennial timescales.     

The toxicity and fate of phenolic pollutants in the contaminated soils associated with the oil-shale industry

Phenol, cresols, dimethylphenols and resorcinols are considered major pollutants in the oil-shale semi-coke dump leachates (up to 380 mg phenols/L) that contaminate the surrounding soils and pose a threat to the groundwater in the North-East of Estonia. However, despite high residual concentrations of polyaromatic hydrocarbons (PAHs) and oil products in these soils, the concentration of phenols (especially their water-extractable fraction) was low, not exceeding 0.7 mg/kg dwt. The aim of the current study was to evaluate the role of biodegradation and aging on the decrease of hazard caused by phenolic pollution. The extractability of phenols (phenol, cresols, dimethylphenols and resorcinols) and their biodegradability by the microbial population was studied in the 13 soils sampled from the Estonian oil-shale region, territories of former gas stations, and from presumably non-polluted areas. Phenol, 5-methylresorcinol, p-cresol and resorcinol could be considered easily degradable in the soils as the microbial populations from majority of the soils studied were able to grow on mineral medium supplemented with these phenols as a single source of carbon. 2,3- and 2,4- and 3,4-dimethylphenols could be considered less easily biodegradable.The semi-coke dump leachate polluted soil (containing no dibasic phenols, 43 mg of monobasic phenols, 1348 mg of oil products and 35 mg of PAHs per g dwt) was analyzed chemically (HPLC) and toxicologically (Flash-Assay usingVibrio fischeri) for the leaching of phenols during shaking of soil-water slurries for 24 h. Only 5.8% of the total concentration of phenols was water-extractable, whereas about 50% of the leached amount was biodegraded by the soil microorganisms. Phenol and cresols were biodegraded by 80%, but the concentration of dimethyl-phenols practically did not change. The pollutants (measured as total water-extractable toxicity) were desorbed from the soil particles by the 8^th h of extraction, whereas the toxicity of the aqueous phase continued to increase, probably due to the formation of toxic metabolites. The concentration of water-extractable phenols was too low to explain the toxicity of the extract. Also the impact of PAHs and oil products was excluded. Thus, the relatively low concentration of phenols in the oil-shale region soils is most probably the reflection of both natural attenuation and pollution aging. Therefore, the impact of phenolic compounds to the net bioavailable hazard is probably not so remarkable as it has been considered. The actual pollutants causing the toxicity of the soils from the oil-shale region, however, need to be elucidated.     

Effective biological control of Salvinia molesta in the Senegal River by means of the weevil Cyrtobagous salviniae

The invasion of Salvinia molesta in the Lower Senegal River Delta in Mauritania and Senegal in 1999 posed a serious threat to the socioeconomic conditions of the local people as well as to wetland biodiversity. Eventually, an effective biological control of S. molesta was obtained by means of the weevil Cyrtobagous salviniae, which was introduced in the river in Senegal and Mauritania in May 2000 and in Senegal in April 2001. In October 2001, it became apparent that the weevils were doing a magnificent job. The color of the plants was turning from green to dark-brown or black, and subsequently the plants started to sink to the bottom. Detailed monitoring of the dispersal of C. salviniae in November-December 2001 confirmed the visual observations of the outcome of biological control. In April 2002, it could be concluded that S. molesta was no longer a problem in the Senegal River.     

Use of 15N-depleted artificial compost in bound residue studies

Association of bound residues to soil humic matter may be accomplished by different binding mechanisms such as sequestration in hydrophobic interiors of the organic material or covalent linkage to the organic matter. The structures and chemical environments of compounds can be observed by NMR spectroscopy. We applied 15N-NMR spectroscopy to study the soil-bound residues of 15N-labeled simazine. As the 15N-isotope has a low sensitivity and natural abundance 15N-NMR experiments require long measurement times and often result in low signal-to-noise (S/N) ratios. Therefore, in addition to the use of 15N-labeled simazine, 15N-depleted compost was used to reduce the amount of background signal and enhance the sensitivity. The compost was produced from maize and wheat plants grown on sand with 15N-depleted NH4NO3 as sole nitrogen source. The plants were freeze-dried, ground and mixed with sand for composting. After a composting period of 224 days analysis of the compost revealed a 15N-content of 267 ppm as opposed to a natural abundance of 3650 ppm. Characterization of this artificial compost produced parameter values similar to those of a natural compost. The 13C-NMR-spectra of the humic and fulvic acids during different stages of maturity showed that there was a shift from single-bond functional groups to more complex double-bond and aromatic structures. Experiments with this compost showed an increased signal intensity. The improved sensitivity made it possible to obtain interpretable NMR signals in contrast to experiments with 15N-simazine on native soil where no signals were detectable. The data indicated that the bound residues of simazine are composed of metabolites resulting from N-dealkylation and triazine ring destruction. Silylation of the bound residues showed a very strong binding of the residues to the matrix as only a small fraction could be solubilized.     

Atmospheric Deposition on Swiss Long-Term Forest Ecosystem Research (LWF) Plots

Atmospheric deposition of the major elements was estimated from throughfall and bulk deposition measurements on 13 plots of the Swiss Long-Term Forest Ecosystem Research (LWF) between 1995 and 2001. Independent estimates of the wet and dry deposition of nitrogen (N) and sulfur (S) on these same plots were gained from combined simplified models. The highest deposition fluxes were measured at Novaggio (Southern Switzerland), exposed to heavy air pollution originating from the Po Plain, with throughfall fluxes averaging 29 kg ha^–1 a^–1 for N and 15 kg ha^–1 a^–1 for S. Low deposition fluxes were measured on the plots above 1800 m, with throughfall fluxes lower than 4.5 kg ha^–1 a^–1 for N and lower than 3 kg ha^–1 a^–1 for S. The wet deposition of N and S derived from bulk deposition was close to the modeled wet deposition, but the dry deposition derived from throughfall was significantly lower than the modeled dry deposition for both compounds. However, both the throughfall method and the model yielded total deposition estimates of N which exceeded the critical loads calculated on the basis of long-term mass balance considerations. These estimates were within or above the range of empirical critical loads except above 1800 m.     

Human exposure, health hazards, and environmental regulations

United States environmental regulations, intended to protect human health, generally fail to address major sources of pollutants that endanger human health. These sources are surprisingly close to us and within our control, such as consumer products and building materials that we use within our homes, workplaces, schools, and other indoor environments. Even though these indoor sources account for nearly 90% of our pollutant exposure, they are virtually unregulated by existing laws. Even pollutant levels found in typical homes, if found outdoors, would often violate federal environmental standards. This article examines the importance of human exposure as a way to understand and reduce effects of pollutants on human health. Results from exposure studies challenge traditional thinking about pollutant hazards, and reveal deficiencies in our patchwork of laws. And results from epidemiological studies, showing increases in exposure-related diseases, underscore the need for new protections. Because we cannot rely solely on regulations to protect us, and because health effects from exposures can develop insidiously, greater efforts are needed to reduce and prevent significant exposures before they occur. Recommendations include the development and use of safer alternatives to common products, public education on ways to reduce exposure, systematic monitoring of human exposure to pollutants, and a precautionary approach in decision-making.     

An ecologically oriented database to guide remediation and reuse of contaminated sites

This article presents a database developed to determine the potential reuse of contaminated sites for primarily ecologically and culturally based activities. The database consists of 172 quantitative and qualitative measures of on‐site land suitability, ecological, cultural, and recreational value, and off‐site suitability, economic, and demographic information. Using sites owned by the U.S. Department of Energy (DOE) as a case study, the article evaluates the quality of available data and suggests ways of using it for planning ecologically sensitive remediation activities and future land use. This type of database can be developed and used by anyone who needs to select, review, or evaluate site remediation and future land use options. Also discussed are the challenges associated with compiling and using data that has been generated by many sources over several years. © 2003 Wiley Periodicals, Inc.