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.     

Epithelial immunity in a marine invertebrate: a cytolytic activity from a cuticular secretion of the American horseshoe crab, <Emphasis Type="Italic">Limulus polyphemus</Emphasis>

The cuticle of the American horseshoe crab, Limulus polyphemus, is largely free of the macroscopic epibionts that rapidly colonize most solid surfaces exposed to sea water. Here, we describe a viscous surface secretion that coats the carapace of the horseshoe crab. We report methods for stimulating production of the substance, identify hemolytic and liposome-permeabilizing activities and provide a partial biochemical characterization. We propose that this secretion functions as an anti-fouling agent protecting the chitinized epithelium of the cuticle from colonization by deleterious epibionts.     

Analysis and decomposition of condensed tannins in tree leaves

The decomposition of leaf litter is controlled by several factors. One factor that may play an important role is the content of condensed tannins (proanthocyanidins). Here we designed a combined method to isolate proanthocyanidins from leaf extracts, to convert them to anthocyanidins, and to quantify individual anthocyanidins exactly with a new, simple, but sensitive high-performance liquid chromatography method. We used this method to show composition of proanthocyanidins and to monitor degradation of proanthocyanidins and individual constituents in leaf litter in an aquatic environment over time. Despite the rapid decrease in the initial concentrations, a fraction of the proanthocyanidins remained detectable for several weeks.     

Underlying reasons of the controversy over adverse effects of Bt toxins on lady beetle and lacewing larvae

In their recent study, Hilbeck et al. (2012) report that Cry1Ab causes lethal effects on larvae of the ladybird beetle Adalia bipunctata when fed directly to the predator. Such toxic effects were not previously observed in a direct feeding study conducted by us (álvarez-Alfageme et al. 2011). Because Hilbeck et al. (2012) claim that our study design did not allow us to detect any adverse effects we provide arguments for the value and relevance of our study in this commentary. Furthermore we discuss two additional published studies that have not revealed any direct effects of Cry1Ab on larvae of A. bipunctata and are not mentioned by Hilbeck et al. (2012). One of the studies was conducted in our laboratory under more realistic exposure conditions (álvarez-Alfageme et al. 2011). Feeding A. bipunctata larvae with spider mites reared on Bt maize did not reveal any adverse effects on lethal and sublethal parameters of the predator. This was despite the fact that the larvae had ingested high amounts of biologically-active Cry1Ab protein. Thus, we do not see verified evidence that A. bipunctata larvae are sensitive to Cry1Ab at realistic worst-case exposure concentrations. This, together with the fact that A. bipunctata will be little exposed to Cry1Ab under field conditions, allows us to conclude that the risk of Bt maize to this predator is negligible. Support for this comes from the results of many Bt maize field studies that have not revealed evidence for direct Cry1Ab-effects on non-Lepidoptera species.     

The role of private rural properties for conserving native vegetation in Brazilian Southern Amazonia

Regional Environmental Change - The State of Mato Grosso in Brazil has undergone intensive land use changes over the past decades. Native ecosystems have been converted into agrosystems for the...     

The spectral sensitivity of a passerine bird is highest in the UV

The work was supported by a grant from the DFG, SFB 4, E6.     

Ontogenetic data and the evolutionary origin of the mammalian scapula

One of the most useful diagnostic therian features is the division of the lateral surface of the scapula into two fossae separated by a scapular spine. A new model to describe this evolutionary innovation based on ontogenetic data is provided, consistent with information provided by recent fossil discoveries. The development of the scapula in three didelphid and one dasyurid marsupials using histological sections was studied. Only the ventral, acromial portion of the scapular spine, which originates from the anterior margin of the scapular blade, is preformed in cartilage. The major dorsal portion is formed at a later stage by appositional bone, which expands from the perichondral ossification of the scapula into an intermuscular aponeurosis between the supra-and infraspinatus muscles. This intermuscular aponeurosis inserts more or less in the middle of the lateral surface of the developing scapula. Thus, the floor of the supraspinous fossa is already present at the beginning of scapular development, simultaneous with the infraspinous fossa. The portion of the scapular spine that is situated dorsal to the acromial process is hypothesized to be a neomorphic structure of therians. The dorsal portion of the scapular spine evolved as additional attachment for powerful supraspinatus and infraspinatus muscles meeting near the middle of the lateral scapula.     

Impact of a flood disaster on sediment toxicity in a major river system--the Elbe flood 2002 as a case study

The ecotoxicological implications of a flooding disaster were investigated with the exceptional Elbe flood in August 2002 as an example. Sediment samples were taken shortly after the flood at 37 sites. For toxicity assessment the midge Chironomus riparius (Insecta) and the mudsnail Potamopyrgus antipodarum (Gastropoda) were exposed to the sediment samples for 28 days. For a subset of 19 sampling sites, the contamination level and the biological response of both species were also recorded before the flood in 2000. The direct comparison of biological responses at identical sites revealed significant differences for samples taken before and immediately after the flood. After flood sediments of the river Elbe caused both higher emergence rates in the midge and higher numbers of embryos in the mudsnail. Contrary to expectations the toxicity of the sediments decreased after the flood, probably because of a dilution of toxic substances along the river Elbe and a reduction in bioavailability of pollutants as a result of increasing TOC values after the flood.     

Input of trichloroacetic acid into the vegetation of various climate zones--measurements on several continents

Trichloroacetic acid (TCA, CCl(3)COOH) is a phytotoxic chemical. Although TCA salts and derivates were once used as herbicides to combat perennial grasses and weeds, they have since been banned because of their indiscriminate herbicidal effects on woody plant species. However, TCA can also be formed in the atmosphere. For instance, the high-volatile C(2)-chlorohydrocarbons tetrachloroethene (TECE, C(2)Cl(4)) and 1,1,1-trichloroethane (TCE, CCl(3)CH(3)) can react under oxidative conditions in the atmosphere to form TCA and other substances. The ongoing industrialisation of Southeast Asia, South Africa and South America means that use of TECE as solvents in the metal and textile industries of these regions in the southern hemisphere can be expected to rise. The increasing emissions of this substance--together with the rise in the atmospheric oxidation potential caused by urban activities, slash and burn agriculture and forest fires in the southern hemisphere--could lead to a greater input/formation of TCA in the vegetation located in the lee of these emission sources. By means of biomonitoring studies, the input/formation of TCA in vegetation was detected at various locations in South America, North America, Africa, and Europe.