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.     

Determination of neonicotinoids in Estonian honey by liquid chromatography–electrospray mass spectrometry

The aim of the study was to provide a comprehensive overview of neonicotinoid pesticide residues in honey samples for a single country and compare the results with the import data for neonicotinoid pesticides. The levels of four neonicotinoid pesticides, namely thiamethoxam, imidacloprid, acetamiprid, and thiacloprid, were determined in 294 honey samples harvested from 2005 to 2013 from more than 200 locations in Estonia. For the analyzed honey samples, 27% contained thiacloprid, and its levels in all cases were below the maximum residue level set by the European Union. The other neonicotinoids were not detected. The proportion of thiacloprid-positive samples for different years correlates well with the data on thiacloprid imports into Estonia, indicating that honey contamination with neonicotinoids can be estimated based on the import data.     

Can we take the pulse of environmental governance the way we take the pulse of nature? Applying the Freshwater Health Index in Latin America

Quantitative assessments have long been used to evaluate the condition of the natural environment, providing information for standard setting, adaptive management, and monitoring. Similar approaches have been developed to measure environmental governance, however, the end result (e.g., numeric indicators) belies the subjective and normative judgments that are involved in evaluating governance. We demonstrate a framework that makes this information transparent, through an application of the Freshwater Health Index in three different river basins in Latin America. Water Governance is measured on a 0–100 scale, using data derived from perception-based surveys administered to stakeholders. Results suggest that water governance is a primary area of concern in all three places, with low overall scores (Guandu-26, Alto Mayo-38, Bogotá-43). We conclude that this approach to measuring governance at the river basin scale provides valuable information to support monitoring and decision making, and we offer suggestions on how it can be improved.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01407-8) contains supplementary material, which is available to authorized users.     

Heavy metal distribution and speciation in the Northern Adriatic Sea

In the present study the concentrations of cobalt, copper, iron, manganese, zinc were analysed and the speciation of copper and zinc performed, with a summer and winter sampling, for two areas in the Northern Adriatic Sea and crossing at the farthest zones of the Po river-sea water interface. Results show that when salinity increases the concentrations of all investigated metals (with the exception of cobalt) present some degree of biogeochemical cycling. Copper is the element whose dissolved phase has the highest importance in metal transport across the salinity gradient. Results of speciation analysis demonstrate that the presence of excess amounts (5-8 fold) of unbound ligands confers a buffering capacity for potential inputs of dissolved metals into the Northern Adriatic Sea. The speciation of both copper and zinc in the dissolved phase was dominated by organic complexation.     

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.     

联合国环境规划署保险业环境举措—— 把可持续性带给风险界

对环境的关注再也不是工商界的一种任选额外事项.金融机构--投资者、银行家、保险商--越来越认识到,它们的未来取决于背靠正确种类的经济发展.     

Multivariate analyses of the effect of an urban wastewater treatment plant on spatial and temporal variation of water quality and nutrient distribution of a tropical mid-order river

Freshwater resources are increasingly scarce due to human activities, and the understanding of water quality variations at different spatial and temporal scales is necessary for adequate management. Here, we analyze the hypotheses that (1) the presence of a wastewater treatment plant (WWTP) and (2) a polluted tributary that drains downstream from the WWTP change the spatial patterns of physicochemical variables (pH, turbidity, dissolved oxygen, and electrical conductivity) and nutrient concentrations (reactive soluble phosphorus, total phosphorus, nitrogen series, total nitrogen, and total dissolved carbon) along a mid-order river in SE Brazil and that these effects depend on rainfall regime. Six study sites were sampled along almost 4 years to evaluate the impacts of human activities, including sites upstream (1–3) and downstream (5–6) from the WWTP. The impacts were observed presenting an increasing trend from the source (site 1) towards Água Quente stream (site 4, the polluted tributary), with signs of attenuation at site 5 (downstream from both WWTP and site 4) and the river mouth (site 6). Input of nutrients by rural and urban runoff was observed mainly at sites 2 and 3, respectively. At sites 4 and 5, the inputs of both untreated and treated wastewaters increased nutrient concentrations and changed physicochemical variables, with significant impacts to Monjolinho River. Seasonal variations in the measured values were also observed, in agreement with the pluviometric indexes of the region. Univariate analyses suggested no effect of the WWTP for most variables, with continued impacts at sites downstream, but non-parametric multivariate analysis indicated that these sites were recovering to chemical characteristics similar to upstream sites, apparently due to autodepuration. Therefore, multivariate methods that allow rigorous tests of multifactor hypotheses can greatly contribute to determine effects of both point and non-point sources in river systems, thus contributing to freshwater monitoring and management.     

Bacterial community structure analyses to assess pollution of water and sediments in the Lake Shkodra/Skadar, Balkan Peninsula

- Goal, Scope, Background. Lake Skadar is the largest lake in Balkan Peninsula, located on the Montenegro-Albanian border. The unique features of the lake and wide range of endemic and rare or endangered plant and animal species resulted in the classification of the Skadar as a wetland site of international significance. In spite of its importance the Lake is influenced by inflowing waters from river Morača and other regional rivers contaminated by the industry, municipal and agricultural activities in the area. Therefore, the Lake has been subject of various physical, chemical, biological and toxicological examinations. However, community-level analyses are most relevant to assess the effect of stressors on aquatic ecosystems. In the present study bacterial community structure among differently polluted sites of the lake was compared by genetic fingerprinting technique. Methods Water and sediment samples were collected from five differently polluted sampling sites on the Lake Skadar in spring and autumn of the same year. The bacterial community structure in the samples was characterized and compared by temporal temperature gel electrophoresis (TTGE) analysis of polymerase chain reaction-amplified bacterial 16S rRNA genes. Results and Discussion The TTGE analysis resulted in many distinguishable and reproducible band patterns, allowing reliable comparison of bacterial communities among sampling sites. Results on the bacterial community structure revealed that three of the selected locations can be considered as sites that have not shown any pollution degradation determined by our method, due to similar structure of bacterial community in the sediment samples. On the other hand, significant shifts in bacterial community structure in the mouth of the river Morača and Plavnica were shown. Since the results coincide with some of the bioassays and chemical analysis performed previously, the changes in bacterial community structure are explained as an effect of antropogenic pollution on the lake ecosystem by waters of river Morača and stream Plavnica. Conclusion The TTGE has proven to be an efficient and reliable method to monitor bacterial dynamics and community shifts in aquatic environment, especially in the sediments. Within the variety of environmental quality assessments the use of TTGE analyses of bacterial community is strongly recommended, particularly as an initial investigation. However, in any conclusion on the state of the environment, the TTGE results should be combined to some other biological, chemical and hydrological data. Recommendation and Outlook Since prokaryotes are a crucial group of organisms in the biosphere, the ecosystem function studies are largely based on bacterial communities. Therefore, bacterial community structure analysis should be a part of an integrated weight of evidence approach in pollution assessment. In case of Triad approach, consisting of chemical analyses, bioassays, and community studies in the field, the TTGE bacterial community structure analyses should be placed in the later Triad leg. In comparison to other community studies, based on various biotic indices, the TTGE bacterial community analysis has proven to be very sensitive, reliable and less time consuming.     

Assessment of elemental distribution and trace element contamination in surficial wetland sediments, Southern Tibetan Plateau

In order to analyze and evaluate different trace metals on surface water of the Changjiang River, concentrations of dissolved trace metals (Cu, Ni, Fe, Co, Sc, Al, Zn, Pb, Cd, Se, As, Cr, and Hg), major elements(Ca and Mg), and nutrient(NO $_{3}^{-})$ were measured. Samples were taken at 76 positions along Changjiang River in flood and dry seasons during 2007?C2008. Spatial distributions identified two main large zones mainly influenced by mineral erosion (sites 1?C22) and anthropogenic action (sites 23?C76), respectively. Principal component analysis (PCA) and hierarchical cluster analysis were used to identify the variance distinguishing the origin of water. Four significant components were extracted by PCA, explaining 74.91% of total variable. Cu, Ni, Fe, Co, Sc, Al, Ca, and Mg were mainly associated with the weathering and erosion of various rocks and minerals, while an anthropogenic source was identified for Cd and As. Although erosion was one source of Pb and Zn, they were also input by atmospheric deposition and industrial pollutions. NO $_{3}^{-}$ and Se were mainly associated with agriculture activities. However, Hg and Cr showed different sources. CA confirmed and completed the results obtained by PCA, classifying the data into two large groups representing different areas. Group 1 referred to the upper reaches which represented samples mainly corresponding to natural background areas. Group 2 referred to the middle and lower reaches including samples under anthropogenic influence. Meanwhile, group 2 was subdivided into three new groups, representing agricultural, industrial, and various artificial pollution sources, respectively.