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.     

Tropospheric Ozone in Tehran,Iran, during the last 20 years

Environmental Geochemistry and Health - Air pollution and its effects on human health and the environment are one of the main concerns in urban areas. This study focuses on the distribution and...     

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...     

Complex performance of novel CoNiMnB electrodeposits in alkaline borohydride solutions

The complex performance of newly synthesized CoNiMnB electrodeposits in base-stabilized sodium borohydride solutions was examined. The rate of hydrogen generation due to borohydride hydrolysis was determined at different temperatures. Activation energy of approximately 33 kJ/mol was estimated, which is lower than the values reported for other catalysts. At electrochemical conditions, there is a competition between borohydride hydrolysis and electrooxidation reactions. The electrooxidation of borohydride takes place with low overpotentials at relatively high current densities. The long-term discharge at galvanostatic conditions as well as possibilities for partial storage of generated hydrogen indicates potentials for application of studied electrodeposits as anode material in direct borohydride fuel cells (DBFC).     

Gefahrstoff-Substitution — Innovation durch erfolgreiches Zusammenwirken von Wirtschaft, Staat und Zivilgesellschaft

Ohne Zusammenfassung     

CHEMIFOG_V – A Model to Simulate Radiation Fogs and their Interaction with Vegetation and Chemistry

Radiation fog is an important modifier of atmosphericcompounds in the planetary boundary layer. In vegetated areas effects are especially pronounced due to the enlarged surface area. Besides affectingthe lower boundary of atmospheric models fog acts as amulti-phase reaction chamber leading to acid deposition. Here we present the 1-dimensional radiation fog modelCHEMIFOG_V to simulate regional radiation fogevents. The key feature of the fog model is thedetailed microphysics, where the aerosol/dropletspectrum is describedwith a joint 2-dimensional distribution, but also thedynamics, thermodynamics, and radiative transfer are calculated. Toinvestigate the interaction between fog and the biosphere amulti-layer vegetation module, including a soil module as well as a drydeposition module were coupled. Vegetation influences thedynamics, thermodynamics, and the radiation field of the lowestatmospheric layers. With CHEMIFOG_V, numerical case studieson dry and moist deposition processes on vegetation surfaces wereperformed. Hereby multi-phase chemistry and the processing of aerosolswere considered. The results show that the chemical composition of thedeposited fog droplets is mainly determined by the aerosol composition. Dry deposition fluxes are dependent on the incoming radiation and the leaves' surface conditions with respect to water coverage.Due to chemical aerosol processing and deposition, the aerosol spectrumis significantly modified in the planetary boundary layer.     

Sensitivity of stand dynamics to grazing in mixed Pinus sylvestris and Quercus pubescens forests: A modelling study

Only recently, studies of forest succession have started to include the effects of browsing by wild or domestic ungulates. We aim to contribute to this topic by analysing the influence of goat grazing on the long-term coexistence of Scots pine (Pinus sylvestris L.) and pubescent oak (Quercus pubescens Willd.) in the low-elevation forests of an inner-Alpine dry valley. The forest gap model ForClim was first adapted to these site conditions by examining the site-dependent sensitivity of the model with regard to the species-specific parameterisation of the drought tolerance as well as the light demand of establishing and adult trees. In a second step, the behaviour of the model was investigated with respect to different grazing intensities and species-specific browsing susceptibilities. The last step was the application of a grazing scenario based on forest history, with 150 years of heavy browsing (by goats) at the beginning of the simulated forest succession, followed by less intensive grazing pressure.