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.     

Malondialdehyde concentrations in the intestine and gills of Vardar chub (Squalius vardarensis Karaman) as indicator of lipid peroxidation

Environmental Science and Pollution Research - A lipid peroxidation product, malondialdehyde (MDA), was studied in Vardar chub (Squalius vardarensis Karaman) as an indicator of oxidative stress,...     

Facile fabrication of hybrid titanium(IV) isopropoxide/pozzolan nanosheets (TnS-Pz) of high photocatalytic activity: characterization and application for Cr(VI) reduction in an aqueous solution

Environmental Science and Pollution Research - This paper presents the synthesis of a hybrid material through the use of natural pozzolan and titanium(IV) isopropoxide using the sol-gel method and...     

Age and seasonal variability of polybrominated diphenyl ethers in free-ranging East Greenland polar bears (Ursus maritimus)

Polybrominated diphenyl ethers (PBDEs) were analysed in adipose tissue from 92 East Greenland polar bears (Ursus maritimus) sampled during 1999-2001. Mean SigmaPBDE concentrations were 70 ng/g lipid weight (lw) (range: 22-192 ng/g lw) and showed no relationship with age or sex. Of the 32 analysed PBDE congeners; BDE47, BDE153, BDE99 and BDE100 dominated, and comprised 99.6% of the SigmaPBDE concentration. The SigmaPBDE concentration had a highly significant correlation with SigmaPCB, SigmaCHL, dieldrin, HCB and SigmaHCH concentrations. We found a seasonal pattern of median SigmaPBDE concentration with 1.2 to 1.8 times higher concentrations in March to July than the rest of the year. The seasonal variation also provides a clue to the seasonal exposure, bio-availability, toxic exposure and degradation. We suggest that future geographical PBDE data comparisons may not need corrections for sex or age, but such data sets should be corrected for seasonal variability, using the presented correctional trigonometric regression.     

TUGAI: An Integrated Simulation Tool for Ecological Assessment of Alternative Water Management Strategies in a Degraded River Delta

The development of ecologically sound water allocation strategies that account for the needs of riverine ecosystems is a pressing issue, especially in semiarid river basins. In the Aral Sea Basin, a search for strategies to mitigate ecological and socioeconomic deterioration has been in process since the early 1990s. The Geographic Information System–based simulation tool TUGAI has been developed to support the policy determination process by providing a simple, problem-oriented method to assess ecological effects of alternative water management strategies for the Amudarya River. It combines a multiobjective water allocation model with simple, spatially explicit statistical and rule-based models of landscape dynamics. Changes in environmental conditions are evaluated by a fuzzy habitat suitability index for Populus euphratica, which is the dominant species of the characteristic riverine Tugai forests. Water management scenarios can be developed by altering spatiotemporal water distribution in the delta area or the amount of water inflow into the delta. Outcomes of scenario analysis are qualitative comparisons of the ecological effects of different options for a time period of up to 28 years. The given approach utilizes different types of knowledge, from quantitative hydrological data to qualitative local expert knowledge. The main purpose of the tool is to integrate the knowledge in a comprehensive way to make it available for discussions on alternative policies in moderated workshops with stakeholders. In this article, the modules of the tool, their integration, and three hypothetical scenarios are presented. Based on the experience gained when developing the TUGAI tool, we propose that the general framework can be transferred to other areas where tradeoffs in water allocation between the environment and other water users are of major concern. The potential for a simulation tool to structure and inform a complex resource management situation by involving local experts and stakeholders in the development of possible future scenarios will become increasingly valuable for transparent and participatory resource management.     

Long-term Hg pollution-induced structural shifts of bacterial community in the terrestrial isopod (Porcellio scaber) gut

In previous studies we detected lower species richness and lower Hg sensitivity of the bacteria present in egested guts of Porcellio scaber (Crustacea, Isopoda) from chronically Hg polluted than from unpolluted environment. Basis for such results were further investigated by sequencing of 16S rRNA genes of mercury-resistant (Hg^r) isolates and clone libraries. We observed up to 385 times higher numbers of Hg^r bacteria in guts of animals from polluted than from unpolluted environment. The majority of Hg^r strains contained merA genes. Sequencing of 16S rRNA clones from egested guts of animals from Hg-polluted environments showed elevated number of bacteria from Pseudomonas, Listeria and Bacteroidetes relatives groups. In animals from pristine environment number of bacteria from Achromobacter relatives, Alcaligenes, Paracoccus, Ochrobactrum relatives, Rhizobium/Agrobacterium, Bacillus and Microbacterium groups were elevated. Such bacterial community shifts in guts of animals from Hg-polluted environment could significantly contribute to P. scaber Hg tolerance.     

Comparative analysis of small mammal communities in Chisinau and Yaroslavl, two European cities located in different biomes

Comparative analysis of the structure of small mammal communities has been performed in two European cities located in different biomes: Chisinau (2008?C2009) and Yaroslavl (1994?C2002). The parameters studied included abundance, species composition, similarity and difference of faunas, species diversity, and proportions of groups differing in predisposition to synanthropy. It has been found that the structure of small mammal communities in these cities depends on specific physiographic conditions of the surrounding areas and on the distinctive features of the cities themselves (their structure, age, etc.). The similarity between the faunas is accounted for by the common ecological patterns of fauna formation in the biota of urban cenoses.     

Gas–particle partitioning of persistent organic pollutants in the Western Balkan countries affected by war conflicts

Background, aim, and scope  

Bombing and destruction of the industrial and military targets accompanied by complete or incomplete combustion during the war conflict and NATO operation in former Yugoslavia caused the emission of persistent organic pollutants into the atmosphere, water, and soil. A total of 129 ambient air samples from 24 background, urban, and industrial sites, including hot spots, were collected to assess a gas–particle partitioning behavior of various persistent organic pollutants.     

Recycling of EDTA solution after soil washing of Pb, Zn, Cd and As contaminated soil

Soil washing with EDTA is known to be an effective means of removing toxic metals from contaminated soil. A practical way of recycling of used soil washing solution remains, however, an unsolved technical problem. We demonstrate here, in a laboratory scale experiment, the feasibility of using acid precipitation to recover up to 50% of EDTA from used soil washing solution obtained after extraction of Pb (5330 mg kg⁻¹), Zn (3400 mg kg⁻¹), Cd (35 mg kg⁻¹) and As (279 mg kg⁻¹) contaminated soil. Up to 100% of EDTA residual in the washing solution and 100%, 97%, 98% and 100% of initial Pb, Zn, Cd and As concentration in the solution, respectively, were removed in an electrolytic cell using a graphite anode. We employed the recovered EDTA and treated washing solution to prepare recycled soil washing solution with the same potential for extracting toxic metals from soil as the original. The efficiency of soil washing depends on the EDTA concentration. Using twice recycled 30 mmol EDTA kg⁻¹ soil, we removed 44%, 20%, 53% and 61% of Pb, Zn, Cd and As, respectively, from contaminated soil.