Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Inputs of chemicals from recreational activities into the Norwegian coastal zone

Wastewater treatment works effluent is often considered to be one of the most important point sources of a wide range of anthropogenic contaminants to aquatic systems, however, this paper discusses other potential sources. With the aim of establishing the important sources of UV filters, insect repellent and biocides to the aquatic environment, samples were collected from sites with direct (bathing areas and marinas) and indirect (sites receiving wastewater effluent) human influences. Sunscreens containing UV filters are used in large volumes during the summer months and often applied shortly before a person enters the water for swimming activities. The results presented here demonstrate that washing directly from the skin is an important point source of 4 UV filters to the Oslofjord. The insect repellent, diethyl toluamide, was also measured and it was concluded that washing from the skin was not such an important point source into the fjord. Concentrations of the biocide Irgarol 1051 were also measured and were elevated in the small boat marina and surrounding enclosed area. This work demonstrates that man recreational water-based activities are a diffuse source of some contaminants into coastal and fjord environments and this study provides an initial assessment of the levels being released.     

Comparison between the accumulation capacity of four lichen species transplanted to a urban site

The capacity to accumulate trace elements from the atmosphere of the lichens Hypogymnia physodes, Parmelia sulcata, Pseudevernia furfuracea and Usnea gr. hirta transplanted to an urban site of N Italy was compared. Twenty-nine elements (Al, As, Br, Ca, Cd, Ce, Cl, Co, Cr, Cs, Cu, Fe, Hg, I, K, La, Mg, Mn, Ni, Pb, Rb, Sb, Sc, Se, Sm, Th, Ti, V, Zn) were analyzed by Instrumental Neutron Activation Analysis (INAA) and Electro-Thermal Atomic Absorption Spectroscopy (ET-AAS). The ratio between the concentrations of each element in exposed samples to that of control samples (exposed-to-control ratio and EC ratio) was used to investigate the accumulation rates of lichen thalli. The results showed that in general elements did not exhibit well defined trends, but rather showed fluctuations, and indicated that H. physodes, P. furfuracea and U. gr. hirta have a similar accumulation capacity, while that of P. sulcata is lower.     

Changes in soil chemical and microbiological properties during 4 years of application of various organic residues

A 4-year field trial was established in eastern Sweden to evaluate the effects of organic waste on soil chemical and microbiological variables. A simple crop rotation with barley and oats was treated with either compost from household waste, biogas residue from household waste, anaerobically treated sewage sludge, pig manure, cow manure or mineral fertilizer. All fertilizers were amended in rates corresponding to 100kgNha(-1)year(-1). The effects of the different types of organic waste were evaluated by subjecting soil samples, taken each autumn 4 weeks after harvest, to an extensive set of soil chemical (pH, Org-C, Tot-N, Tot-P, Tot-S, P-AL, P-Olsen, K-AL, and some metals) and microbiological (B-resp, SIR, microSIR active and dormant microorganisms, PDA, microPDA, PAO, Alk-P and N-min) analyses. Results show that compost increased pH, and that compost as well as sewage sludge increased plant available phosphorus; however, the chemical analysis showed few clear trends over the 4 years and few clear relations to plant yield or soil quality. Biogas residues increased substrate induced respiration (SIR) and, compared to the untreated control amendment of biogas residues as well as compost, led to a higher proportion of active microorganisms. In addition, biogas residues increased potential ammonia oxidation rate (PAO), nitrogen mineralization capacity (N-min) as well as the specific growth rate constant of denitrifiers (microPDA). Despite rather large concentrations of heavy metals in some of the waste products, no negative effects could be seen on either chemical or microbiological soil properties. Changes in soil microbial properties appeared to occur more rapidly than most chemical properties. This suggests that soil microbial processes can function as more sensitive indicators of short-term changes in soil properties due to amendment of organic wastes.     

Biophysical and socioeconomic characterization of a water-stressed area and simulating agri-production estimates and land use planning under normal and extreme climatic events: a case study

This study aims in linking the biophysical and socioeconomic data base layers with the technical coefficients or simulation models for agri-production estimates and land use planning under normal and extreme climatic events, and exploring the resource and inputs management options in village Shikohpur, Gurgaon district located in the northwest part of India. The socioeconomic profile of Shikohpur is highly skewed with mostly small and marginal farmers. Though the areas under wheat in Shikohpur are increasing, the productivity is declining or remaining stagnant over the years. Most of the area during kharif season (June-September) remains fallow. Pearl millet based cropping systems (pearl millet-mustard and pearl millet-wheat) are predominant. Soils are mostly loamy sand to sandy loam with average of 70-80% sand content. Organic C content in soil is less than 0.3%, due to high prevailing temperature with little rainfall and also intensive agriculture followed in this region. Though the annual average seasonal rainfall in Gurgaon did not have much variation over the years, occurrence of extreme climate events has increased in the last two decades. The crop intensity is low and the water table is declining. Water and nitrogen production functions were developed for the important crops of the region, for their subsequent use in scheduling of the inputs. InfoCrop, WTGROWS and technical coefficients were used for crop planning and resource management under climate change and its variability, extreme events, limited resource availability and crop intensification. These will help in disseminating necessary agro-advisories to the farmers so that they will be able to manipulate the inputs and agronomic management practices for sustained agricultural production under normal as well as extreme climatic conditions.     

Recent biosensing developments in environmental security

Environmental security is one of the fundamental requirements of our well being. However, it still remains a major global challenge. Therefore, in addition to reducing and/or eliminating the amounts of toxic discharges into the environment, there is need to develop techniques that can detect and monitor these environmental pollutants in a sensitive and selective manner to enable effective remediation. Because of their integrated nature, biosensors are ideal for environmental monitoring and detection as they can be portable and provide selective and sensitive rapid responses in real time. In this review we discuss the main concepts behind the development of biosensors that have most relevant applications in the field of environmental monitoring and detection. We also review and document recent trends and challenges in biosensor research and development particularly in the detection of species of environmental significance such as organophosphate nerve agents, heavy metals, organic contaminants, pathogenic microorganisms and their toxins. Special focus will be given to the trends that have the most promising applications in environmental security. We conclude by highlighting the directions towards which future biosensors research in environmental security sector might proceed.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Phosphorus supply influences heathland responses to atmospheric nitrogen deposition

On an upland moor dominated by pioneer Calluna vulgaris and with an understorey of mosses and lichens, experimental plots were treated with factorial combinations of nitrogen (N) at +0 and +20kg Nha(-1)yr(-1), and phosphorus (P) at +0 and +5kg Pha(-1)yr(-1). Over the 4-year duration of the experiment, the cover of the Calluna canopy increased in density over time as part of normal phenological development. Moss cover increased initially in response to N addition but then remained static; increases in cover in response to P addition became stronger over time, eventually causing reductions in the cover of the dominant Calluna canopy. Lichen cover virtually disappeared within 4 years in plots receiving +20kg Nha(-1)yr(-1) and also in separate plots receiving +10kg Nha(-1)yr(-1), but this effect was reversed by the addition of P.     

Comparison of models of simazine transport and fate in the subsurface environment in a citrus farm

Contamination of groundwater by agrochemicals is now widely recognized as an extremely important environmental problem. Modern agricultural practices involve the combined use of irrigation with the application of large amounts of agrochemicals to maximize crop yield. Due to flood irrigation and natural runoff, agricultural activities might generate soil, surface water and groundwater contamination problems and leaching of pesticides. Modeling of the transport and fate of pesticides, such as simazine, may help understand the long-term potential risk to the subsurface environment. This paper illustrates a comparative study via the use of three different pesticide transport simulation models and the applicability of those models in determining the groundwater vulnerability to pesticides contamination in a citrus orchard located at the Lower Rio Grande Valley (LRGV). The three models used in the study are the pesticide root zone model-3 (PRZM-3), the pesticide analytical model (PESTAN) and integrated pesticide transport modeling (IPTM). The concentration values obtained from all three models are in agreement, and they show a decreasing trend from the surface through the vadose zone. The problem is how to use this information and, specifically, how to combine the testimony of a number of experts into a single useful judgment. With the aid of the fuzzy multiattribute decision making method, PRZM-3 is deemed as the most promising one for such precision farming applications.     

A directional passive air sampler for monitoring polycyclic aromatic hydrocarbons (PAHs) in air mass

A passive air sampler was developed for collecting polycyclic aromatic hydrocarbons (PAHs) in air mass from various directions. The airflow velocity within the sampler was assessed for its responses to ambient wind speed and direction. The sampler was examined for trapped particles, evaluated quantitatively for influence of airflow velocity and temperature on PAH uptake, examined for PAH uptake kinetics, calibrated against active sampling, and finally tested in the field. The airflow volume passing the sampler was linearly proportional to ambient wind speed and sensitive to wind direction. The uptake rate for an individual PAH was a function of airflow velocity, temperature and the octanol-air partitioning coefficient of the PAH. For all PAHs with more than two rings, the passive sampler operated in a linear uptake phase for three weeks. Different PAH concentrations were obtained in air masses from different directions in the field test.