A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes,identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.     

Modified Edman degradation applied to hemoglobin for monitoring occupational exposure to alkylating agents

A method that can be used for the monitoring of exposure to alkylating agents in the environment is presented. It is based on the quantification of alkylated N‐terminal valines in hemoglobin, using a modified Edman degradation procedure. The detection limit (GC/electron capture detector or GC/MS) is increased by two magnitudes of ten when using pentafluorophenyl isothiocyanate instead of phenyl isothiocyanate in the derivatization step. As little as one nmole N‐(—2 hydroxyethyl)valine per gram hemoglobin can be detected under practical conditions.     

The impact of the type and position of the halogen atom on the biodegradation of halosubstituted benzyl alcohols

The biodegradation of 2‐halosubstituted and 4‐halosubstituted benzyl alcohols was studied using two sources of biodegrative micro‐organisms: mixed culture from the ?TUDA waste water treatment plant, Dom?ale, and the white rot fungus Phanerochaete chrysosporium strain MZKI B‐223 (ATCC 24725). The results obtained by this study indicate the interrelationship between the types of micro‐organism used in the experiments and the type and position of the halogen element on the aromatic ring.     

Effects on the structure of Arctic ecosystems in the short- and long-term perspectives

Species individualistic responses to warming and increased UV-B radiation are moderated by the responses of neighbors within communities, and trophic interactions within ecosystems. All of these responses lead to changes in ecosystem structure. Experimental manipulation of environmental factors expected to change at high latitudes showed that summer warming of tundra vegetation has generally led to smaller changes than fertilizer addition. Some of the factors manipulated have strong effects on the structure of Arctic ecosystems but the effects vary regionally, with the greatest response of plant and invertebrate communities being observed at the coldest locations. Arctic invertebrate communities are very likely to respond rapidly to warming whereas microbial biomass and nutrient stocks are more stable. Experimentally enhanced UV-B radiation altered the community composition of gram-negative bacteria and fungi, but not that of plants. Increased plant productivity due to warmer summers may dominate food-web dynamics. Trophic interactions of tundra and sub-Arctic forest plant-based food webs are centered on a few dominant animal species which often have cyclic population fluctuations that lead to extremely high peak abundances in some years. Population cycles of small rodents and insect defoliators such as the autumn moth affect the structure and diversity of tundra and forest-tundra vegetation and the viability of a number of specialist predators and parasites. Ice crusting in warmer winters is likely to reduce the accessibility of plant food to lemmings, while deep snow may protect them from snow-surface predators. In Fennoscandia, there is evidence already for a pronounced shift in small rodent community structure and dynamics that have resulted in a decline of predators that specialize in feeding on small rodents. Climate is also likely to alter the role of insect pests in the birch forest system: warmer winters may increase survival of eggs and expand the range of the insects. Insects that harass reindeer in the summer are also likely to become more widespread, abundant and active during warmer summers while refuges for reindeer/caribou on glaciers and late snow patches will probably disappear.     

Ozone uptake by an evergreen forest canopy: temporal variation and possible mechanisms

Patterns of ozone concentration ([O(3)]), O(3) deposition velocity (v(d)) and O(3) flux (F(c)) over an evergreen forest canopy are shown in relation to measuring method, physiological activity of the trees, and time of year. The gradient and eddy correlation methods were compared and showed similar diel v(d) patterns. Daytime F(c) was correlated with CO(2) and water vapour fluxes, while no correlation between [O(3)] in the range 10-70 ppb (nl l(-1)) and F(c) was seen in this study. F(c) was primarily driven by stomatal conductance, reactions with surfaces, particles and gases, and not by [O(3)]. On a monthly basis, [O(3)] was always highest in the afternoon while v(d) was typically higher in the morning, resulting in an equal F(c) over the day. Night-time F(c) was more than half of the daytime O(3) flux. The data reveal the importance of emissions of nitric oxide and terpenes as O(3) removal factors in evergreen forest dominated by Norway spruce.     

Evidence of highly dynamic geochemical behaviour of zinc in the Deûle river (northern France)

The monitoring of dissolved zinc in the De?le river was undertaken at three different periods of the years 2008 and 2009. Electrolabile concentrations of Zn were estimated every 2 hours for several weeks by using an ATMS (Automatic Trace metal Monitoring System) based on voltammetric measurements using a solid Ag-Hg rotating disc working electrode. Complementary measurements were carried out with DGT (Diffusive Gradient in Thin films) pistons deployed directly in the river for 24 hours. Water samples filtrated at 0.45 μm were also analysed by HR-ICP-MS to estimate the total dissolved concentrations of zinc and other trace metals. High frequency monitoring of zinc over several weeks in the De?le river indicated that the concentration could change significantly over short time periods. Resuspension of polluted sediment and biological activities are two main factors that control the behaviour of zinc in the De?le river. Furthermore, in May 2009, daily cycles of the electrolabile zinc fraction have been observed at relatively constant total dissolved concentration. It is assumed that this particular behaviour of zinc is based on an exchange between colloids and/or nonelectrolabile forms and free cation and inorganic complexes at a daily time scale.     

The missing pieces for better future predictions in subarctic ecosystems: A Torneträsk case study

Arctic and subarctic ecosystems are experiencing substantial changes in hydrology, vegetation, permafrost conditions, and carbon cycling, in response to climatic change and other anthropogenic drivers, and these changes are likely to continue over this century. The total magnitude of these changes results from multiple interactions among these drivers. Field measurements can address the overall responses to different changing drivers, but are less capable of quantifying the interactions among them. Currently, a comprehensive assessment of the drivers of ecosystem changes, and the magnitude of their direct and indirect impacts on subarctic ecosystems, is missing. The Torneträsk area, in the Swedish subarctic, has an unrivalled history of environmental observation over 100 years, and is one of the most studied sites in the Arctic. In this study, we summarize and rank the drivers of ecosystem change in the Torneträsk area, and propose research priorities identified, by expert assessment, to improve predictions of ecosystem changes. The research priorities identified include understanding impacts on ecosystems brought on by altered frequency and intensity of winter warming events, evapotranspiration rates, rainfall, duration of snow cover and lake-ice, changed soil moisture, and droughts. This case study can help us understand the ongoing ecosystem changes occurring in the Torneträsk area, and contribute to improve predictions of future ecosystem changes at a larger scale. This understanding will provide the basis for the future mitigation and adaptation plans needed in a changing climate.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01381-1) contains supplementary material, which is available to authorized users.