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Ivonne Bedei Karl-Philipp Gloning Luc Joyeux Matthias Meyer-Wittkopf Daria Willner Martin Krapp Alexander Scharf Jan Degenhardt Kai-Sven Heling Peter Kozlowski Kathrin Trautmann Kai M. Jahns Annegret Geipel Ismail Tekesin Michael Elsässer Lucas Wilhelm Ingo Gottschalk Jan-Erik Baumüller Cahit Birdir Andreas Schröer Felix Zöllner Aline Wolter Johanna Schenk Tascha Gehrke Alicia Spaeth Roland Axt-Fliedner 《黑龙江环境通报》2023,43(2):183-191
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. 相似文献5.
Cecilia Akselsson Johan Holmqvist Mattias Alveteg Daniel Kurz Harald Sverdrup 《Water, Air, & Soil Pollution: Focus》2004,4(2-3):671-681
Weathering rates of base cations are crucial in critical load calculations and assessments of sustainable forestry. The weathering rate on a single site with detailed geological data can be modelled using the PROFILE model. For environmental assessments on a regional scale, the weathering rates for sites are scaled into regional maps. The step from sites to regional level requires focus on the spatial variation of weathering rates. In this paper, a method is presented by which weathering rates are calculated for 25589 Swedish sites with total elemental analysis for the soil. Based on a part of the results, a methodology for creating area covering maps by geostatistical analysis and kriging is described. A normative reconstruction model was used to transform total elemental analysis to mineralogy. Information from the Swedish Forest Inventory database and other databases were used to derive texture and other important information for the sites, e.g. climate, deposition and vegetation data. The calculated weathering rates show a regional pattern that indicates possibilities for interpolation of data in large parts of Sweden. Geostatistical analysis of an area in southern Sweden shows different properties for different base cations. Kriging was performed for potassium to demonstrate the method. It was concluded that different base cations and different regions have to be analysed separately, in order to optimise the kriging method. 相似文献
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Marc Nagtegaal Thomas A. Ternes Wolfram Baumann Roland Nagel 《Environmental Sciences Europe》1997,9(2):79-86
A method was developed for the analysis of fish samples to detect sunscreen agents (SSA) together with organochlorides (PCB, DDT) in different fish tissues. Detection limits of the compounds analyzed are in the range of ng/kg and vary between 40 and 90 ng/kg fillet. Recovery rates range from 78 to 104%. The contamination of water and fish with SSA in Meerfelder Maar lake, the Eifel, Germany was investigated in 1991 and 1993 and allowed the identification and quantification of six different SSA in the fish. The sum of SSA concentrations in perch taken in the summer of 1991 was 2.0 mg/kg lipid and 0.50 mg/kg lipid was found in roach sampled during the summer of 1993. Both species were contaminated with SSA and organochlorides to the same ranges as PCB and DDT. Even in the fillet of roach taken from three other lakes in Germany, methylbenzylidene camphor, a lipophilic SSA, was detected. These results indicate that SSA are wide-spread in German lakes. Therefore, they can be seen as a new group of relevant environmental chemicals. In the investigated lakes, the concentrations of the SSA in water were mostly below the detection limits. Thus, fish can be used as a biomonitor for these lipophilic compounds. Due to the lack of toxicological data for aquatic organisms, an ecotoxicological assessment is impossible at the moment. 相似文献
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Wunsam Sybille Kamenik Christian Schmidt Roland 《Water, Air, & Soil Pollution: Focus》2002,2(4):93-108
Traunsee, a 191 m deep Alpine lake in Austria, is affected by industrial tailings from the soda and salt mining industries since 1883. In 1998 littoral water chloride concentrations ranged between 40 and 85 mg L-1 and the highest conductivity was 560 S cm-1, which is almost double as high as the values reported from the two nearby reference lakes. Chloride concentrations increased towards the location of the industrial salt and soda emission into the lake. Analogously to the chloride gradient, the epilithic littoral diatom flora changes towards the waste inlet. Shifts in the species percentages towards the emission source, a high percentage of taxa with large conductivity tolerances, the presence of a small Achnanthes minutissima Kützing morphotype, and occurrences of taxa focused at habitats of higher electrolyte content, indicate subtle impacts on the epilithic diatom flora. An analysis of the seasonal succession of the epilithic diatoms at the waste inlet compared to a lake intern reference site, reveals that only during the late summer period in 1998 the diatom assemblage at the waste inlet became significantly different, indicating seasonally restricted effects of the industrial emissions. 相似文献