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
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Agricultural pesticides transported to surface waters pose a major risk for aquatic ecosystems. Modelling studies indicate that the inlets of agricultural storm drainage systems can considerably increase the connectivity of surface runoff and pesticides to surface waters. These model results have however not yet been validated with field measurements. In this study, we measured discharge and concentrations of 51 pesticides in four out of 158 storm drainage inlets of a small Swiss agricultural catchment (2.8 km2) and in the receiving stream. For this, we performed an event-triggered sampling during 19 rain events and collected plot-specific pesticide application data. Our results show that agricultural storm drainage inlets strongly influence surface runoff and pesticide transport in the study catchment. The concentrations of single pesticides in inlets amounted up to 62 µg/L. During some rain events, transport through single inlets caused more than 10% of the stream load of certain pesticides. An extrapolation to the entire catchment suggests that during selected events on average 30 to 70% of the load in the stream was transported through inlets. Pesticide applications on fields with surface runoff or spray drift potential to inlets led to increased concentrations in the corresponding inlets. Overall, this study corroborates the relevance of such inlets for pesticide transport by establishing a connectivity between fields and surface waters, and by their potential to deliver substantial pesticide loads to surface waters.
Environmental Science and Pollution Research - Mycotoxins are toxic metabolites of filamentous fungi; they are common contaminants in numerous foods and beverages. Cyclodextrins are ring-shaped... 相似文献
Partial migration is a common phenomenon among many animals and occurs in many types of ecosystems. Understanding the mechanisms behind partial migration is of major importance for the understanding of population dynamics and, eventually, ecosystem processes. We studied the effects of food availability on the seasonal partial migration of cyprinid fish from a lake to connected streams during winter by the use of passive telemetry. Fish with increased access to food were found to migrate in higher proportion, earlier in the season, and to reside in the streams for a longer period compared to fish with decreased access to food. Furthermore, fewer unfed migrants returned to the lake, indicating higher overwinter mortality. Our results suggest that individual fish trade off safety from predation and access to food differently depending on their body condition, which results in a condition-dependent partial migration. Hence, our main conclusion is that individual decision-making is based on assessment of own condition which offers a mechanistic explanation to partial migration. Moreover, this may be of high importance for understanding population responses to environmental variation as well as ecosystem dynamics and stability. 相似文献
Animals disperse in space through different movement behaviors, resulting in different displacement distances. This is often described with a displacement kernel where the long-distance dispersers are within the tail of the kernel. A displacement with a large proportion of long-distance dispersers may have impact on different aspects of spatial ecology such as invasion speed, population persistence, and distribution. It is, however, unclear whether the kurtosis of the kernel plays a major role since a fatter tail also influences the variance of the kernel. We modeled displacement in landscapes with different amounts and configurations of habitats and handled kurtosis and variance separately to study how these affected population distribution and transition time. We conclude that kurtosis is not important for any of these aspects of spatial ecology. The variance of the kernel, on the other hand, was of great importance to both population distribution and transition time. We argue that separating variance and kurtosis can cast new light on the way in which long-distance dispersers are important in ecological processes. Consequences for empirical studies are discussed. 相似文献
The larval shell of the marine gastropod Haliotis tuberculata was investigated by polarised light microscopy, scanning electron microscopy, Raman microspectroscopy and infra-red spectroscopy.
Trochophore and veliger larval sections were used for histological examination of the growing shell and each larval stage
was related to the shell development and the appearance of calcified formations. We determined the stage of initial calcification
by specific staining combined with polarised light examination. The shell of 30-h-old pre-veliger larvae was found to be mineralized,
confirming that calcification occurred before larval torsion. Using both infra-red and Raman spectroscopy, we showed that
CaCO3 deposition occurred at the pre-veliger stage and that the mineral phase initially deposited was essentially composed of aragonite. 相似文献