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.     

Forest ecosystem development in post-mining landscapes: a case study of the Lusatian lignite district

The restoration of surface mining landscapes requires the (re)creation of ecosystems. In Lusatia (eastern Germany), large-scale open-cast lignite mining operations generated spoil dumps widely consisting of acidified, phytotoxic substrates. Amelioration and rehabilitation measures have been developed and applied to these substrates since the 1950s. However, it is still not clear whether these approaches are sustainable. This paper reports on collaborative research work into the ecological potential of forest ecosystem development on typical minesites in the Lusatian lignite district. At first sight, pine stands on minesites along a chronosequence comprising about 35 years did not show differences when compared with stands on non-mined sites of the general region. Furthermore, with some modification, conceptual models for flora and fauna succession in forest stands on non-mined sites seem to be applicable, at least for the early stages of forest ecosystem development. For example, soil organism abundance and activity at minesites had already reached levels typical of non-mined sites after about 20-30 years. In contrast, mine soils are very different from non-mined soils of the test region. Chemically, mine soil development is dominated by processes originating from pyrite oxidation. Geogenic, i.e. lignitic, soil organic carbon was shown to substitute for some functions of pedogenic soil organic matter. Rooting was hampered but not completely impeded in strongly acidified soil compartments. Roots and mycorrhizae are apparently able to make use of the characteristic heterogeneity of young mine soils. Considering these recent results and the knowledge accumulated during more than 30 years of research on minesite rehabilitation internationally, it can be stated that minesite restoration might be used as an ideal case study for forest ecosystem development starting at "point zero" on "terra nova".     

Peculiarities of innervation in chromatophore muscle cells ofLoligo vulgaris

The contractile cortex in muscle cells of the large brown chromatophore organs inLoligo vulgaris features a small open slit in its proximal portion. The slit accommodates a nerve fiber, penetrating into the central core of the muscle cell. The functional properties of the fiber, in relation to the contraction of the muscle cell, are discussed.Supported by Deutsche Forschungsgemeinschaft.     

Ein neuer Biotest mit der HefeSaccharomyces cerevisiae auf aquatische Toxizität

The fermentation activity of the yeastSaccharomyces cerevisiae is used as a bioindicator to detect aquatoxic effects. This is done by measuring the CO₂ production of yeast cells after a multiplication period affected by toxic substances. The concentration of toxicants diminishing the fermentation by 20% is taken as a characteristic value (EC₂₀). Organic compounds (unpolar and polar narcotics), inorganic salts (especially of heavy metals), surfactants and plant pesticides were tested. The results are compared so far as available with data of a ciliata assay usingTetrahymena pyriformis. A congruence of 90% and an equal sensibility of the assays resulted. The results of the yeast assay are therefore representative for ecotoxicological testing. The yeast assay is reproducible, easy to handle, and offers an alternative for sewage testing because sterile handling is not necessary.