Prenatal diagnosis of smith–lemli–opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7-dehydrocholesterol (7-DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7-DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7-DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.     

Tumour-associated antigens in maternal and fetal blood

Normal levels of cancer-associated antigen (CA) 19-9, neurone-specific enolase (NSE), cancer-associated antigen (CA) 125, and mucin-like carcinoma-associated antigen (MCA) during pregnancy were determined in 87 mothers and fetuses, using a solid-phase sandwich enzyme immunoassay. CA 19-9 concentrations were higher in the fetuses, whereas the other three tumour-associated antigen levels were higher in the mothers. Only fetal NSE and MCA levels were positively correlated with those in maternal serum. Contrary to adult samples, no difference was demonstrated between male and female fetal levels of CA 125. MCA was the only maternal marker that increased significantly with gestational age between 20 and 34 weeks' pregnancy.     

Prenatal diagnosis with biotinylated chromosome specific probes

We have used a Y-chromosome specific DNA probe in a controlled study to determine the presence of Y-chromosome material and to detect numerical abnormalities in uncultured amniotic fluid cells by fluorescent hybridization. Using this non-radioactive method, we correctly predicted fetal sex within 48 h in all but 3 of 54 cases and identified an XYY syndrome. The technique was previously tested with no false-positive or false-negative results on cultured interphase or metaphase nuclei of fetal fibroblasts and adult T-lymphocytes. Fluorescent in situ hybridization was applied to long-term fixed cytogenetic preparations up to 44 months old and was shown to be reliable.     

Process design of Synthetic Natural Gas (SNG) production using wood gasification

The process design of a 10–20 MW_th Synthetic Natural Gas (SNG) production process from wood has been performed. Combining process modelling and process integration techniques, this study proceeds via the following stages:

• thermodynamic modelling: mass, energy balances and simulation of the wood gasification, the methanation and the purification units;

• process integration that identifies the energy saving opportunities and prepares a thermo-economic optimization.

This work demonstrates that the process can transform wood into pipeline quality methane with a thermal efficiency of 57.9% based on the Lower Heating Value (LHV). The process integration study shows that the heat surplus of the process can be used to almost satisfy the mechanical work required by the process; only 7% of the mechanical needs should come from an external source.     

Degradation of chemical alarm cues under natural conditions: risk assessment by larval woodfrogs

Summary. Many aquatic species use chemosensory information to assess predation risk. The cues used in such risk assessment can come either from the predator (predator odour) or from injured prey (alarm cues). The information conveyed through chemicals may, however, be inaccurate both spatially and temporally, as chemicals may persist in the environment long after the predator is gone. Thus, the level of accuracy of the cues for risk assessment may depend on the persistency of the chemicals in the habitat. Here, we investigated the persistency of alarm cues of a larval amphibian, the woodfrog (Rana sylvatica) in a ephemeral pond, their natural habitat. We introduced either alarm cues or control water in enclosed sleeves (~10 L) installed in the pond. The sleeve water was then sampled after 5 min and every two hours for eight hours. We used the behavioural response of woodfrog tadpoles to alarm cues as a bioassay to assess how long the alarm cues persisted in the environment. We found that tadpoles responded with an antipredator response to the pond water containing alarm cues 5 min after the injection of the cues in the sleeves but did not respond to that same pond water after two hours. Our results indicate that biodegradation and/or photodegradation of alarm cues in natural habitats might occur relatively quickly as the loss of a response to the cues in our experiment was independent of a dilution effect. This contrasts with previous laboratory results indicating that chemicals may be active after several hours.     

Conservative maternal care in an iteroparous mammal: a resource allocation experiment

When resources are limited, life history theory predicts a trade-off between growth, reproduction and survival. In summer, lactating females of temperate large herbivores such as the white-tailed deer (Odocoileus virginianus) normally have access to abundant forage but also face the high energetic needs of lactation and recovery from winter mass loss. At high population density, however, females may face a trade-off between allocating resources for maintenance and for reproduction. To simulate the effects of increased intra-specific competition at high density, we measured for 2 years how an experimental food restriction of approximately 20% affected current reproduction and body mass changes of adult females and their fawns during the fawning and lactation periods. Fawn survival decreased 35%, and fawn growth decreased 26% in the food-restricted treatment. There was no effect of food restriction on female mass. Irrespective of treatment, however, lactating females gained 30 g/day less than non-lactating females, and females that had weaned a fawn the previous year gained 20 g/day less than females that had not. We conclude that when resources were scarce, females adopted a conservative strategy favouring their own survival, mass recovery and future reproductive potential over their current reproduction, probably to maximise their lifetime reproductive success.     

Characterization of landfill leachates and studies on heavy metal removal

This study covers a thorough characterisation of landfill leachates emerging from a sanitary landfill area. The landfill leachates were obtained in the acidic stage of landfill stabilisation. Their organic content was high as reflected by the high BOD5 (5 day biological oxygen demand) and COD (chemical oxygen demand) values. They were also highly polluted in terms of the parameters TKN (total Kjeldahl nitrogen), NH4-N, alkalinity, hardness and heavy metals. Nickel was present in these wastewaters at a significant concentration. With regard to the high heavy metal content of these wastewaters, several physicochemical removal alternatives for the heavy metals Cu, Pb, Zn, Ni, Cd, Cr, Mn and Fe were tested using coagulation, flocculation, precipitation, base addition and aeration. Additionally, COD removal and ammonia stripping were examined. Co-precipitation with either alum or iron salts did not usually lead to significantly higher heavy metal removal than lime alone. The major methods leading to an effective heavy metal removal were aeration and lime addition. Nickel and cadmium seemed to be strongly complexed and were not removed by any method. Also lead removal proved to be difficult. The results are also discussed in terms of compliance with standards.     

The effect of the presence of trace metals on the oxidation of Sb(III) by hydrogen peroxide in aqueous solution

Despite its importance for understanding the behaviour of antimony in the environment, the oxidation kinetics of Sb(III) with natural oxidants is still not well understood. We have studied the oxidation of Sb(III) by hydrogen peroxide on a time scale of hours in the presence of some trace metals, Cu(II), Mn(II), Zn(II) and Pb(II), under pH and concentration conditions close to natural ones. The effects that these trace metals have on Sb(iii) oxidation by hydrogen peroxide vary. Zn(II) had no catalytic effect at all, but Cu(II), Mn(II) and Pb(II) did, though their effects were not uniform. Cu(II) significantly accelerated the reaction, which remained first-order with respect to Sb(III) at any Cu(II) concentration tested. Pb(II) and Mn(II) also enhanced the reaction rates, but the apparent order of the reaction with respect to Sb(III) changed to two. The trace metal effect observed was concentration dependent for Pb(II). The addition of the hydroxyl radical scavenger 2-propanol suggests that the trace metal catalytic effect observed involves the action of hydroxyl radicals, but that they are not responsible for the oxidation of Sb(III) by H2O2 in the absence of trace metals. The fact that Sb(III) can be oxidized by hydroxyl radicals present in water, even if it is not capable of producing them, has important environmental implications because hydroxyl radicals are known to be abundant in many natural waters such as seawater, humic-rich surface waters or rainwater.     

Removal of MCPA from aqueous solutions by acid-activated spent bleaching earth

The removal of MCPA (4-chloro-2-methyl phenoxyacetic acid) from aqueous solutions by activated spent bleaching earth (SBE) was studied as a function of time, initial concentration, adsorbent concentration, and temperature. The Langmuir and Freundlich isotherms were fitted by the adsorption data obtained. The values of Langmuir and Freundlich constants were determined. The adsorption kinetics was described by the Lagergren equation. Mass transfer coefficient and thermodynamic parameters were also calculated. Column experiments were conducted and brekthrough capacities were found for different concentrations and different flow rates. The study demonstrates that acid-treated SBE could be used as an efficient adsorbent for the removal of MCPA-bearing wastewater effluents.     

Investigation of acute toxicity of beta-cypermethrin on guppies Poecilia reticulata

Beta-cypermethrin, a synthetic pyrethroid pesticide and potential toxic pollutant, contaminating aquatic ecosystems was investigated in the present study for acute toxicity. Guppy fish (Poecilia reticulata) was selected for the bioassay experiments. The experiments were repeated three times and the 48-h LC50 was determined for the guppies. The static test method of acute toxicity test was used. Water temperature was regulated at 22 +/- 1 degrees C. In addition, behavioral changes at each beta-cypermethrin concentration were observed for the individual fish. Data obtained from the beta-cypermethrin acute toxicity tests were evaluated using the probit analysis statistical method. The 48-h LC50 value for guppy was estimated as 21.4 microg/l.