C14-Altersbestimmung von Grundwasser

The Science of Nature -     

Mesomelic campomelia,polydactyly and Dandy–Walker cyst in siblings

The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy–Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations. Copyright © 2001 John Wiley & Sons, Ltd.     

Carbon dioxide variations in continental air

The atmospheric carbon dioxide content was monitored continuously near Pretoria for 15 months. Variations on the timescale of hours, days and seasons were observed and related to source and meteorological parameters. Seasonal variations were found to be greater inland than usually observed at near-coastal stations and are related to continental vegetation influences. Radiocarbon analyses show that fossil CO₂ pollution is small at this site.     

Emotion as mediators of the relations between perceived supervisor support and psychological hardiness on employee cynicism

In this study we explore whether emotion experienced at work mediates the relationships between perceived supervisor support, psychological hardiness, and employee cynicism. Data were collected from employees working at a medical technology company located in Switzerland. Mediational analyses showed that employees' positive and negative emotions experienced amidst an organizational crisis fully accounted for the relations between perceived supervisor support and cynicism and psychological hardiness and cynicism. Practical implications and directions for future research are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Objectives

Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.

Methods

Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.

Results

In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.

Conclusion

This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.