Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

A workflow to investigate the impacts of weathered multi-walled carbon nanotubes to the mud snail Lymnaea stagnalis

Environmental Science and Pollution Research - Although the development and application of nanomaterials is a growing industry, little data is available on the ecotoxicological effects on aquatic...     

Distribution-free two-sample comparisons in the case of heterogeneous variances

Behavioral ecologists are often faced with a situation where they need to compare the central tendencies of two samples. The standard tools of the t test and Mann–Whitney U test (equivalent to the Wilcoxon rank-sum test) are unreliable when the variances of the groups are different. The problem is particularly severe when sample sizes are different between groups. The unequal-variance t test (Welch test) may not be suitable for nonnormal data. Here, we propose the use of Brunner and Munzel’s generalized Wilcoxon test followed by randomization to allow for small sample sizes. This tests whether the probability of an individual from one population being bigger than an individual from the other deviates from random expectation. This probability may sometimes be a more clear and informative measure of difference between the groups than a difference in more commonly used measures of central tendency (such as the mean). We provide a recipe for carrying out a statistical test of the null hypothesis that this probability is 50% and demonstrate the effectiveness of this technique for sample sizes typical in behavioral ecology. Although the test is not available in any commercial software package, it is relatively straightforward to implement for anyone with some programming ability. Furthermore, implementations in R and SAS are freely available on the internet.     

Genetic diversity and population structure of the Chinese mitten crab <Emphasis Type="Italic">Eriocheir sinensis</Emphasis> in its native range

The Chinese mitten crab Eriocheir sinensis is an indigenous and economically important species in China, but can also be found as invasive species in Europe and America. Mitten crabs have been exploited extensively as a food resource since the 1990s. Despite its ecological and economic importance, the genetic structure of native mitten crab populations is not well understood. In this paper, we investigated the genetic structure of mitten crab populations in China by screening samples from ten locations covering six river systems at six microsatellite loci. Our results provide further evidence that mitten crabs from the River Nanliujiang in Southern China are a genetically differentiated population within the native range of Eriocheir, and should be recognized as a separate taxonomic unit. In contrast, extremely low levels of genetic differentiation and no significant geographic population structure were found among the samples located north of the River Nanliujiang. Based on the reproductive biology of mitten crabs and the geography of their habitat we argue that both natural and human-mediated gene flow are unlikely to fully account for the similar allele frequency distributions at microsatellite loci. Large population sizes of mitten crabs suggest instead that a virtual absence of genetic drift and significant homoplasy of microsatellite alleles have contributed to the observed pattern. Furthermore, a coalescent-based maximum likelihood method indicated a more than two-fold lower effective population size of the Southern population compared to the Northern Group and low but significant levels of gene flow between both areas.     

Quantification of copepod gut content by differential length amplification quantitative PCR (dla-qPCR)

Quantification of feeding rates and selectivity of zooplankton is vital for understanding the mechanisms structuring marine ecosystems. However, methodological limitations have made many of these studies difficult. Recently, molecular based methods have demonstrated that DNA from prey species can be used to identify zooplankton gut contents, and further, quantitative gut content estimates by quantitative PCR (qPCR) assays targeted to the 18S rRNA gene have been used to estimate feeding rates in appendicularians and copepods. However, while standard single primer based qPCR assays were quantitative for the filter feeding appendicularian Oikopleura dioica, feeding rates were consistently underestimated in the copepod Calanus finmarchicus. In this study, we test the hypothesis that prey DNA is rapidly digested after ingestion by copepods and describe a qPCR-based assay, differential length amplification qPCR (dla-qPCR), to account for DNA digestion. The assay utilizes multiple primer sets that amplify different sized fragments of the prey 18S rRNA gene and, based on the differential amplification of these fragments, the degree of digestion is estimated and corrected for. Application of this approach to C. finmarchicus fed Rhodomonas marina significantly improved quantitative feeding estimates compared to standard qPCR. The development of dla-qPCR represents a significant advancement towards a quantitative method for assessing in situ copepod feeding rates without involving cultivation-based manipulation.     

Eine Weight-of-Evidence-Studie zur Bewertung der Sedimentbelastung und des Fischrückgangs in der Oberen Donau

Background and aim Despite intensive and continuous stocking and improvement of water quality since the 1970s, fish populations, especially those of the grayling (Thymallus thymallus), have declined over the last two decades in the upper Danube River (Germany). In order to assess 1) possible links between molecular/biochemical responses and ecologically relevant effects, and 2) if ecotoxicological effects might be related to the decline in fish catches in the upper Danube river, sediment samples and fish were collected at different locations and analyzed using a weight-of-evidence (WOE) approach with several lines of evidence. The objective of the presentation is to introduce the conceptual framework and to review results of the ongoing study. As previously addressed by Chapman and Hollert (2006) a variety of lines of evidence can be used in WOE studies. Briefly, 1) a comprehensive battery of acute and mechanism-specific bioassays was used to characterize the ecotoxicological hazard potential. 2) Histopathological investigations and the micronucleus assay with erythrocytes were applied, analyzing in situ parameters. 3) Diversity and abundance of benthic macroinvertebrates and fish as well as 4) persistent organic pollutants, endocrine disrupting substances, limnochemical parameters and the concentration of heavy metals were recorded. To identify organic contaminants a spotential causes of sediment toxicity assays, 5) effect directed analysis was applied.     

Comparing the greenhouse gas emissions from three alternative waste combustion concepts

Three alternative condensing mode power and combined heat and power (CHP) waste-to-energy concepts were compared in terms of their impacts on the greenhouse gas (GHG) emissions from a heat and power generation system. The concepts included (i) grate, (ii) bubbling fluidised bed (BFB) and (iii) circulating fluidised bed (CFB) combustion of waste. The BFB and CFB take advantage of advanced combustion technology which enabled them to reach electric efficiency up to 35% and 41% in condensing mode, respectively, whereas 28% (based on the lower heating value) was applied for the grate fired unit. A simple energy system model was applied in calculating the GHG emissions in different scenarios where coal or natural gas was substituted in power generation and mix of fuel oil and natural gas in heat generation by waste combustion. Landfilling and waste transportation were not considered in the model. GHG emissions were reduced significantly in all of the considered scenarios where the waste combustion concepts substituted coal based power generation. With the exception of condensing mode grate incinerator the different waste combustion scenarios resulted approximately in 1 Mton of fossil CO₂-eq. emission reduction per 1 Mton of municipal solid waste (MSW) incinerated. When natural gas based power generation was substituted by electricity from the waste combustion significant GHG emission reductions were not achieved.     

The design and implementation of sustainable plant diversity conservation program for alpine meadows and pastures

The paper describes the design and implementation of a plant biodiversity conservation program that was developed under funding and time constraints for diverse ecological, social, and institutional environments. The biodiversity program for alpine meadows and pastures located in the Swiss Canton of the Grisons is used as an example. The design of the sustainable program relied on existing legislation, accounted for limited ecological knowledge and expertise, and considered biodiversity as a common-pool resource. The trend to intensified cultivation of restricted areas required fast action, while the sustainability of the program design had to take into account institutional diversity. Fifteen habitats and plant communities worth conserving were known, and 57 plant species were identified as indicator species for establishing an inventory and for monitoring purposes. A small subset of 16 well known plant species was presented to the farming communities. They were invited to notify the areas in which they observed the presence of these plants. In different regions of the Canton a total number of 39 paraecologists were trained to inspect the areas notified by farmers and to recommend possible incorporation into the Cantonal inventory. This was done once the farmers signed a contract in which they agreed to follow adequate management practices. The farmers received subsidies to compensate for their losses. Communal authorities controlled the fertilizer input and cutting dates, while the paraecologists were trained to monitor plant biodiversity. The program started in 1992 and the initial phase of the inventory was terminated in 1996. At the beginning of 1996, an inventory of 2617.19 ha, most of which are meadows, was taken and managed according to the rules specified in the contract. The program was considered successful because (i) of the size of the area in the inventory, (ii) about 30%of the farmers participated, and (iii) farmers started cultivating previously abandoned farmland.     

Melt Processing of a New Biodegradable Synthetic Polymer in High-Speed Spinning and Underpressure Spunbonding Process

A new biodegradable synthetic polyesteramid (PEA) was characterized by means of thermogravimetry (TG) differential scanning calorimetry (DSC) and dynamic rheological measurements. Two glass transition ranges at about –33 and 38°C and a melting enthalpy of 33 J/g were measured, indicating that PEA is an immiscible blend of two components with a small crystalline part. The material was spun in a high-speed spinning process within the range of 2,000–6,000 M/min and an underpressure spunbonding process within the range of 3,600–7,700 M/min. The textile physical properties of the fibers were 100 MPa tenacity at an elongation at break of 30%, and an E-modulus of 0.5 GPa. The mass per unit area of the spunbonded nonwovens ranged from 70–159 g/M ². The strength of the spunbonded nonwovens was 28–51 N and 42–74 N in machine and cross direction, respectively. The air permeability of the nonwovens decreased at high air velocities and more fineness of the filaments from 1240–380 l/M ² s.     

Dry Deposition Monitoring in Europe

Between 1993 and 1999 two EU funded projects wereexecuted aimed at (i) the development of drydeposition monitoring methods for core sites andlarge scale application, (ii) the installation andrunning of three core sites in Europe and (iii) the improvement and validation of models used forregional application. This article provides anoverview of the development of depositionmonitoring stations and the main results of thethree core sites, which were operated between1995 and 1998. Furthermore, the results of thedevelopment of a low cost monitoring system arepresented. Continuous measurements were made ofboth wet and dry deposition of sulphur andnitrogen components and base cations. The 4 yearsof data show a decrease in sulphur loads and notrend for the other components. It is shown thatthe surface affinities for sulphur depositionalso changed during the years, underpinning theneed for dry deposition monitoring. A conditionaltime average gradient system was successfullydeveloped and tested and provides a good meansfor low cost monitoring of dry deposition fluxes.The costs can be reduced by a factor of 3–4 without losing the accuracy of the annual average gas fluxes.