Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.     

Isolation and cloning of DNA from somatic tissue of soft corals (Cnidaria: Octocorallia)

A method is described for isolating high molecular weight DNA from somatic tissue of soft corals. The method avoids problems associated with the presence of nucleases, pigments and other secondary metabolites in soft corals. Tissue is frozen in liquid nitrogen, pulverized with a pestle and mortar, and the powder extracted with buffered sodium dodecyl sulphate at 4°C in the presence of phenol/chloroform. This technique has been applied toAlcyonium, Sinularia, Sarcophyton andLobophytum species. Repeated sequences have been cloned fromAlcyonium sp., and used to probe slot-blots of genomic DNA and Southern blots of restriction digests. Homologous repeated sequences were detected in threeAlcyonium sp., but not in threeSinularia sp., despite these genera being closely related.     

The effects of shifting vegetation mosaics on habitat suitability for coastal dune fauna—a case study on sand lizards (Lacerta agilis)

Encroachment of tall grasses and shrubs in coastal dunes has resulted in loss of vegetation heterogeneity. This is expected to have negative effects on animal diversity. To counteract encroachment and develop structural heterogeneity grazing is a widely used management practice. Here, we aim to functionally interpret changes in vegetation composition and configuration following grazing management on habitat suitability for sand lizards. Aerial photographs taken over a period of 16 years were used to quantify changes in vegetation composition. A GIS-based method was developed to calculate habitat suitability for sand lizards in a spatially explicit manner, encompassing differences in vegetation structure and patch size. From 1987 to 2003 dune vegetation shifted from small patches of moss and sand to larger patches covered by shrubs and grasses. Grazing management did not have any significant effect on the overall level of heterogeneity, measured as habitat suitability for sand lizards. However, on a more local scale highly suitable patches in 1987 were deteriorating whereas unsuitable patches became more suitable in 2003. This inversion results from a broad shift with shrubs being a limiting habitat element in 1987 to sandy patches being the limiting element in 2003. Future changes are believed to negatively impact sand lizards. The habitat suitability model has proven to be a useful tool to functionally interpret changes in coastal dune vegetation heterogeneity from an animal’s perspective. Further research should aim to include multiple species operating on different scale levels to fully capture the natural landscape dynamics.     

Impressum

Ohne Zusammenfassung     

Females alter their song when challenged in a sex-role reversed bird species

Birdsong serves to attract mates and to deter territorial rivals. Even though song is not restricted to males, this dual function has almost exclusively been demonstrated for male song. To test the generality of hypotheses on birdsong, we investigated female song in the sex-role reversed, classically polyandrous African black coucal (Centropus grillii) in the context of female–female competition. We compared spontaneously vocalizing females with females vocally responding to a playback simulating a conspecific intruder. Females changed vocal parameters in response to playbacks: They lowered the pitch of their vocalizations and enhanced the duration of song elements when being challenged. Also, the composition of the vocalizations was altered. There was no significant correlation between pitch and body size parameters in spontaneous song, but there was for response songs, with larger females having a lower pitch. These changes in vocal properties suggest that the vocalizations are important for mutual assessment of competitive abilities in females. Our findings confirm the general role of intrasexual competition in vocal communication of birds.     

Effects of increased sea water concentrations of CO2 on growth of the bivalve Mytilus edulis L

It has been proposed that emission of anthropogenic carbon dioxide to the atmosphere will lead to increased concentrations of CO(2) in sea water corresponding to a decrease of pH of several tenths of pH units. An experiment was performed to test the effects of increased sea water concentrations of CO(2) on shell growth of the blue mussel Mytilus edulis. The experiment was performed in aquaria continuously flushed with sea water spiked with CO(2) to provide five different levels of pH between 6.7 and control sea water with a pH of 8.1. The shell length of the mussels was measured at the start and end of the 44 days experimental period. No mortality was observed during the first 23 days of the experiment. The growth increment in mm was much larger for small mussels than for large mussels, but relative growth profile as function of pH was more similar in the two size groups; observed differences may be random variation between samples. The experiments showed that CO(2) induced reduction of pH affects the growth of M. edulis negatively. There was a strong and statistically significant decrease in growth at the lowest pH values, with virtually no growth at pH = 6.7 and reduced growth at pH = 7.1. The effect seems to set in between pH 7.4 and 7.1; at mean pH levels 7.4 and 7.6 the growth increments were not significantly different from growth at normal pH 8.1.     

Feeding in Arctic darkness: mid-winter diet of the pelagic amphipods Themisto abyssorum and T. libellula

The pelagic amphipods Themisto abyssorum and Themisto libellula represent important links between the herbivore zooplankton community and higher trophic levels of the Arctic marine food webs. Large double structured eyes of both of these hyperiid species are assumed to be used for visual prey detection. However, no information is available on the feeding strategies of these visually searching predators for the period of the polar night, a time of year with no or very low levels of daylight. Here, we report on the stomach and gut content of both Themisto species collected during a January expedition around Svalbard (78° to 81°N). Results indicate that T. abyssorum and T. libellula feed actively during the Arctic winter. The major food source of both amphipods consisted of calanoid copepods, most frequently Calanus finmarchicus.     

MODELKEY

The EU Water Framework Directive (WFD) requires the achievement of good ecological and chemical status in European river basins. However, evidence is increasing that a majority of European water bodies will not achieve this goal. Nutrient emissions and related eutrophication together with hydromorphological alterations have been suggested as the major driving forces of this insufficient ecological status. MODELKEY (511237 GOCE, FP6) provides strong evidence that toxic chemicals also affect the ecological status of European rivers. This was demonstrated in the case study rivers Elbe, Scheldt and Llobregat on different scales. This paper summarises key findings of MODELKEY including recommendations for WFD implementation. We ? provide evidence of toxic stress in aquatic ecosystems, ? provide evidence that impairment of ecological status results from impact of multiple stressors, ? suggest a tiered approach to assess impact of chemicals on ecological status, ? suggest a new approach for deriving candidate compounds for monitoring and prioritisation, ? call for consideration of bioavailability and bioaccumulation in chemical status assessments, ? suggest improvements for WFD water quality monitoring programmes, ? provide new integrated tools for basin-scale risk assessment and decision making, ? developed a Decision Support System to support river basin management. These key results will be presented in a series of ten integrated sections; for the scientific details please refer to publications listed on the MODELKEY website (http://www.modelkey.org/). This article also looks beyond MODELKEY and proposes a combination of MODELKEY diagnostic tools with recent ecological methods to further improve effectiveness of river basin management.     

Lung cancer incidence among Norwegian nickel-refinery workers 1953-2000

Among workers employed at a nickel refinery in Norway between 1910 and 1977 an elevated risk of lung cancer has been demonstrated. A dose-related effect from nickel exposure has been identified, with the strongest gradient for water-soluble nickel. This pattern was recently confirmed in a nested case-control study with adjustment for smoking and potential occupational confounders. In the present study, updated cancer data were used to explore the risk by duration of work at the refinery and by exposure to different forms of nickel. Comparisons were made with the national male population (standardised incidence ratios) as well as internal reference groups (Poisson regression) under adjustment for age and smoking. The results confirmed earlier findings of a strong dose-related risk dependent on duration of work in production departments and cumulative exposure to nickel, most clearly seen for water-soluble nickel. Only slightly elevated risks were found among the unexposed and in the group with no experience from production or maintenance work. The risk associated with exposure to nickel chloride was similar to that for nickel sulfate. Analyses restricted to men exposed after 1967, with estimates based on personal monitoring of nickel in the breathing zone, showed the same risk pattern as for earlier years. Elevated lung cancer incidence was even suggested for workers with their first employment after 1978 when a lot of high exposure jobs were abandoned. The combined effect of exposure to nickel and smoking seemed to be in agreement with a multiplicative risk pattern.