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.     

Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

Solution by dilution?—A review on the pollution status of the Yangtze River

The Yangtze River has been a source of life and prosperity for the Chinese people for centuries and is a habitat for a remarkable variety of aquatic species. But the river suffers from huge amounts of urban sewage, agricultural effluents, and industrial wastewater as well as ship navigation wastes along its course. With respect to the vast amounts of water and sediments discharged by the Yangtze River, it is reasonable to ask whether the pollution problem may be solved by simple dilution. This article reviews the past two decades of published research on organic pollutants in the Yangtze River and several adjacent water bodies connected to the main stream, according to a holistic approach. Organic pollutant levels and potential effects of water and sediments on wildlife and humans, measured in vitro, in vivo, and in situ, were critically reviewed. The contamination with organic pollutants, including polycyclic aromatic hydrocarbons, polychlorinated biphenyls (PCBs), organochlorine pesticides (OCPs), polychlorinated dibenzo-p-dioxins/polychlorinated dibenzofurans, polybrominated diphenyl ethers (PBDEs), perfluorinated compounds (PFCs), and others, of water and sediment along the river was described. Especially Wuhan section and the Yangtze Estuary exhibited stronger pollution than other sections. Bioassays, displaying predominantly the endpoints mutagenicity and endocrine disruption, applied at sediments, drinking water, and surface water indicated a potential health risk in several areas. Aquatic organisms exhibited detectable concentrations of toxic compounds like PCBs, OCPs, PBDEs, and PFCs. Genotoxic effects could also be assessed in situ in fish. To summarize, it can be stated that dilution reduces the ecotoxicological risk in the Yangtze River, but does not eliminate it. Keeping in mind an approximately 14 times greater water discharge compared to the major European river Rhine, the absolute pollution mass transfer of the Yangtze River is of severe concern for the environmental quality of its estuary and the East China Sea. Based on the review, further research needs have been identified.     

Nutritionally relevant elements in staple foods: influence of arable site versus choice of variety

Eighteen representative sites for the Austrian grain-growing and eight for the potato-growing zones (soils and crops) were investigated. On each site, total element contents (B, Ba, Ca, Cd, Co, Cu, Fe, K, Li, Mg, Mn, Mo, Na, P, Sr and Zn) were determined in 4–12 varieties of winter wheat (n = 136), 6 varieties of spring durum wheat (n = 30), 5 varieties of winter durum wheat (n = 15), 7 varieties of rye (n = 49), 5 varieties of spring barley (n = 30) and 5 varieties of potatoes (n = 40). Element accumulations in grain species and potato tubers varied significantly with site conditions, with the main exceptions for B in potatoes and wheat as well as for Zn, Cu and Co in durum wheat. On average, across all investigated sites, differences in varieties occurred concerning the elements Ca, Cd, Ba, Sr and Zn (except Zn in potatoes and winter durum). A rough estimation revealed that an average Austrian consumer of wheat, rye and potatoes meets more than 50% of the needs of daily element intake for K, P and Mg, between 36 and 72% for Fe, Zn and Cu, and more than 100% for Co, Mo and Mn. In particular, the elements Ca and Na have to be added from other sources.     

Multicriteria evaluation of simulated logging scenarios in a tropical rain forest

Forest growth models are useful tools for investigating the long-term impacts of logging. In this paper, the results of the rain forest growth model FORMIND were assessed by a multicriteria decision analysis. The main processes covered by FORMIND include tree growth, mortality, regeneration and competition. Tree growth is calculated based on a carbon balance approach. Trees compete for light and space; dying large trees fall down and create gaps in the forest. Sixty-four different logging scenarios for an initially undisturbed forest stand at Deramakot (Malaysia) were simulated. The scenarios differ regarding the logging cycle, logging method, cutting limit and logging intensity. We characterise the impacts with four criteria describing the yield, canopy opening and changes in species composition. Multicriteria decision analysis was used for the first time to evaluate the scenarios and identify the efficient ones. Our results plainly show that reduced-impact logging scenarios are more 'efficient' than the others, since in these scenarios forest damage is minimised without significantly reducing yield. Nevertheless, there is a trade-off between yield and achieving a desired ecological state of logged forest; the ecological state of the logged forests can only be improved by reducing yields and enlarging the logging cycles. Our study also demonstrates that high cutting limits or low logging intensities cannot compensate for the high level of damage caused by conventional logging techniques.     

Cropland changes in times of conflict,reconstruction, and economic development in Iraqi Kurdistan

The destruction of land and forced migration during the Anfal attacks against the Kurds in Iraq in the late 1980s has been reported to have severe consequences for agricultural development. A reconstruction program to aid people in returning to their lands was launched in 1991. To assess the agricultural situation in the Duhok governorate during the pre-Anfal (A), post-Anfal (B), reconstruction (C), and present (D) periods, we mapped winter crops by focusing on inter-annual variability in vegetation greenness, using satellite images. The results indicate a decrease in cultivated area between period A and B, and a small increase between period B and C. This supports reports of a decline in cultivated area related to the Anfal campaign, and indicates increased activity during the reconstruction program. Period D showed a potential recovery with a cropland area similar to period A.     

Evaluation of trajectories calculated from ecmwf data against constant volume balloon flights during etex

This paper validates trajectories calculated from ECMWF analyses against the tracks of constant volume balloons (CVBs) released during the European tracer experiment (ETEX). The altitudes of the calculated trajectories were adjusted to the altitudes of the respective balloons in short intervals to allow direct comparisons. The agreement between the calculated trajectories and the balloon tracks was very good for the first experiment (individual errors from 1 to 26%, average 15%), and excellent (errors from 2 to 11%, average 6%) for the second one. The agreement for the second experiment was probably partly better because the CVBs travelled above the planetary boundary layer, but the small errors also indicate that the ECMWF fields of the horizontal wind were of exceptionally good quality in the second experiment. This is in sharp contrast to the results of the dispersion models which all failed in the prediction of the perfluorocarbon tracer dispersion for the second experiment. A likely explanation for this is that vertical motions, possibly on small scales, were not correctly captured by the ECMWF analyses, but it is not possible to clarify this with the CVB data.     

Vertical distribution and speciation of trace metals in weathering flotation residues of a zinc/lead sulfide mine

Sulfide-bearing mine tailings are a serious environmental problem around the world. In this study, the vertical distribution and speciation of Zn and Pb in the fine-grained flotation residues of a former sulfide ore mine in Germany were investigated to assess the inorganic weathering processes that effect the environmental risk arising from this site. Total metal contents were determined by X-ray fluorescence spectroscopy (XRF). Mobilizable fractions of Zn, Pb, Fe, and Mn were quantified by sequential chemical extractions (SCE). Furthermore, the speciation of Zn was analyzed by Zn K-edge extended X-ray absorption fine structure spectroscopy (EXAFS) to identify the residual Zn species. The variations in pH and inorganic C content show an acidification of the topsoil to pH 5.5. EXAFS results confirm that Zn is mainly bound in sphalerite in the subsoil and weathering reactions lead to a redistribution of Zn in the topsoil. A loss of 35% Zn and S from the topsoil compared with the parent material with 10 g kg-1 Zn and neutral pH has been observed. If acidification proceeds it will lead to a significant release of Zn, S, and Pb to the ground water. In contrast to Zn, Pb is enriched in the mobile fraction of the topsoil by more than a factor of two compared with the subsoil which contains a total of 2 g kg-1 Pb. Thus, the high bioavailability of Pb and the potential for Pb uptake by plants and animals currently represent the most severe threat for environmental health.