Expected,prenatally discovered,and born cases of Down syndrome in Denmark during the period 1980–1998

In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expected numbers were calculated from the distribution of newborn children according to maternal age combined with the age-related risk of DS. The estimated numbers of children that actually would have been born without any intervention were estimated from observed numbers of cases of DS, i.e. the cases born plus – with corrections because of the high probability of miscarriage in DS pregnancies – a proportion of those cases discovered prenatally. The analysis was carried out separately for mothers aged 35 years or older and for younger mothers. We found a high degree of compatibility between expected and estimated numbers, probably with a minor underestimation of the expected values for the older mothers. The performance of DS screening in Denmark in the period under consideration (1980–1998) is discussed in relation to the figures presented. Despite the fact that 11.8% of all pregnancies were subjected to an invasive diagnostic procedure, only about 38% of all births with DS were prevented. This means that in the period 1990–1998, reluctance to accept serological screening has indirectly resulted in the birth of almost 300 cases of DS in Denmark and at the same time the miscarriage of an unreasonable high number of normal fetuses. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

A prenatal diagnosis of Pelizaeus-Merzbacher disease (PMD) resulting from proteolipid protein gene (PLP) duplication was performed by a quantitative fluorescent multiplex PCR method. PLP gene copy number was determined in the proband, the pregnant mother, the male fetus and two aunts. Small amounts of genomic DNA extracted from peripheral blood and from chorionic villi were used. The fetus, in common with the proband, was identified as PMD-affected being a carrier of the PLP gene duplication, inherited from the mother, while the two aunts were non-carriers. The data obtained were confirmed by segregation analysis of a PLP-associated dinucleotide-repeat polymorphism amplified by the same multiplex PCR. Copyright © 2001 John Wiley & Sons, Ltd.     

Performance and water-use efficiency (single-leaf vs. whole-canopy) of well-watered and half-stressed split-root Lambrusco grapevines grown in Po Valley (Italy)

‘Lambrusco a foglia frastagliata’ grapevines (Vitis vinifera L.) were grown outdoors at Piacenza (44°55′N, 9°44′E, Po Valley, Italy) with the root system split between two 30-L pots and subjected from pre-veraison (17 July) to harvest (5 September) to soil drying of half of the root system (HS) induced by withholding water from one of the two pots as compared to well-watered (WW) vines (both pots daily recharged at field capacity). Volumetric soil-water content, pre-dawn and mid-morning leaf water potential, single-leaf gas-exchange as assimilation rate, stomatal conductance and transpiration were monitored throughout the trial. Whole-canopy gas-exchange as net CO₂ exchange rate (NCER) and transpiration were tracked from 31 August to 7 September on three vines per treatment on a 24-h basis using an enclosure method. Primary leaf carbon isotope (δ¹³C) composition, yield components and must composition were determined at harvest.Withdrawing water from one pot triggered a water stress response showing higher stomatal sensitivity to changes in air vapour pressure deficit, relatively low assimilation rates, high intrinsic and extrinsic water-use efficiency (WUE) and earlier cessation of shoot growth. Yet, mid-morning leaf water potential was consistently lower in HS treatment over stress as compared to WW, indicating an anisohydric adjustment. Canopy NCER given on a leaf-area basis showed mean daily rates ranging from 3.9 to 4.9 μmol m² s^?1 in WW canopies against 2.6–3.0 μmol m^?2 s^?1 in HS. Conversely, canopy transpiration rates varied from 0.915 to 1.157 mmol m^?2 s^?1 for WW to 0.630–0.714 mmol m² s^?1 in HS. Increased leaf-based intrinsic and extrinsic WUE in HS did not match the canopy response, which to some extent resulted in an opposite outcome, i.e. higher canopy WUE in well-watered vines especially in the morning hours. Likewise, δ¹³C did not differ between treatments. This suggests caution when point-time determinations of single-leaf-based WUE are extrapolated to the whole-canopy behaviour when assessing the water saving strategies of a given genotype. The stressed vines achieved no variation in yield level and components and had improved grape composition as to soluble solids and total anthocyanins. This optimal behaviour is likely due to earlier shoot growth cessation, enhanced maturity and a buffering leaf-to-fruit ratio (3.61 m² kg^?1) that mitigated the effects of post-veraison stress.     

Irish fish, Irish people: roles and responsibilities for an emptying ocean

Human decisions shape patterns of seafood resource use. Consequently, it is also these decisions made by actors within seafood industries which ultimately determine the environmental impact of fisheries resource extraction from marine environments. In this study, we investigated the roles and influences of various actors within the Irish seafood industry. Our objectives were to learn more about the working dynamics of the industry and identify possibilities for improvements towards industry sustainability. We employed qualitative research methods including semi-structured interviews, focus groups and participant observation to access information from Irish consumers, retailers, wholesalers, scientists and key industry informants. The diversity of seafood products available within the Irish market is generally low. However, consumers who experiment with trying new varieties of seafood are influenced by dining experiences at restaurants or while travelling abroad as well as through cooking shows or cookbooks. Potential for influence on factors including consumer choice, stocking and sourcing decisions, business management and fisheries policy was found within all levels of the seafood industry, though a sense of responsibility in the context of seafood sustainability was less common. In addition, the absence of shortages within the Irish market due to imports, aquaculture and mislabelling appears to be preventing widespread acceptance about claims of overfishing. It is clear that ultimately, responsible policy decisions and effective enforcement will be needed to improve the overall sustainability of the industry. However, pressure for positive change can come from all actors that prioritise sustainability as the most important objective for future industry operation.     

Trace elements and vanadium in tissues and organs of five species of cetaceans from Italian coasts

Trace element concentrations (chromium, copper, zinc, iron, manganese and vanadium) were determined in organs of five species of cetaceans (Stenella coeruleoalba, Tursiops truncatus, Grampus griseus, Physeter macrocephalus, Ziphius cavirostris) that were found stranded along Italian coasts in the period 2000–2009. This dataset represents an important opportunity to verify and assess (particularly for V) patterns of incorporation of trace elements in different organs of cetaceans in a wide spectrum of species and related specimens distributed in all the age classes, and consequently determine the physiological and metabolic effects on the distribution modes of the same chemicals. In particular, Cu, Zn, and Fe accumulate preferentially in the liver of all studied specimens, while Mn and Cr values are found to be nearly constant in the analysed organs and tissues regardless of species. Comparable concentrations of trace elements, in different age classes, were measured for both specimens of S. coeruleoalba and T. truncatus (the most abundant dolphin species in the Mediterranean sea) in all analysed organs. On the other hand, unprecedented reported concentrations of V in tissues and organs of cetaceans from the Mediterranean show higher values when compared to levels measured in other marine mammals from the Atlantic Ocean.     

Inventories and Distribution of Radiocaesium in Arctic Marine Sediments: Influence of Biological and Physical Processes

Abstract

Extensive surveys of sediment burdens of radiocaesium, specifically ¹³⁷Cs, and other radioactive contaminants in the Arctic during the 1990′s, indicate that almost all anthropogenic radionuclides buried on continental shelves adjacent to Alaska are derived from global bomb fallout. the ¹³⁷Cs (half-life: 30.2y) activities observed in surface (0–4 cm) marine sediments however, vary widely, albeit much less than the expected current inventory resulting from bomb fallout at this latitude (～100mBq cm^?2). This observed geographical variation provided the opportunity to evaluate physical and biological mechanisms that may affect caesium biogeochemistry on Arctic continental shelves. We investigated whether high biological productivity in portions of the Bering and Chukchi Seas is effective in removing dissolved radiocaesium from the water column, and whether biological production in overlying water affects total radiocaesium inventories in sediments. Based upon C/N ratios in the organic fraction of shallow sediments, we found no evidence that higher inventories or surface activities of radiocaesium are present in areas with higher deposition of particulate organic matter. Based upon stable carbon isotope ratios of organic matter in sediments, we found no evidence that terrestrial runoff contributes proportionally to higher surface activities, although terrestrial runoff may affect total inventories of the radionuclide. Radiocaesium content of surface sediments was significantly correlated with total organic carbon content of sediments and the proportion of sediments in the finest sediment fractions. Because high current flow can also be expected to influence distributions of those sedimentary parameters, we conclude that re-distribution of     

Intra-sexual variability in feeding behaviour of a mountain ungulate: size matters

Many studies comparing the behaviour of individuals of different genders or species showed that animal body mass and forage quality/quantity are key elements of the foraging ecology of herbivores. Since body mass could also influence the animal’s sensitivity to predation risk, its vigilance behaviour should consequently be affected. Alpine ibex (Capra ibex) is characterised by a strong dimorphism among males of different ages, thus representing an ideal case study for testing the Jarman-Bell principle, avoiding possibly misleading effects resulting from the comparison between different species or genders. We analysed the fine-scale foraging behaviour of male ibex in order to assess the effect of body mass and the effects of vegetation quality/quantity on both foraging and vigilance behaviour. Our results showed that smaller males were more selective than larger ones, on account of their lower capability of digesting plant. Smaller males scanned the environment more frequently than larger ones. Male ibex grazed more selectively in sites with high quality forage and their bite rate increased as forage biomass decreased. Vigilance frequency increased with increasing forage biomass as, under these circumstances, ibex are able to prolong anti-predator vigilance while chewing bites that have already been cropped. Our findings highlight the effects of body mass per se on both foraging and anti-predator behaviours in herbivores, thus supporting the Jarman-Bell principle. Foraging can arguably be considered a very flexible behaviour with high evolutionary relevance as it enables herbivores to optimally adjust their total energy intake under varying conditions of food resources.     

Greening the structural change process: ranking sustainability of countries in climate change

This paper proposes an analytical toolkit to measure the sustainability of industrialization across countries. Drawing from a methodology developed to analyze economic development as a process of modernization, it ranks countries on the basis of the emissions they produce and their stage of development. The proposed index penalizes environmental pressures taking into account the modernization level of a country. The paper also proposes an assessment of the environmental performance of countries at the same level of modernization. It introduces the notion of policy space as the difference between the best and worst environmental performer at a given level of modernization. An important finding of the paper is that the magnitude of the policy space is not homogenous across different levels of income and environmental targets.     

An experimental and theoretical analysis of floating wood diffusion coefficients

Environmental Fluid Mechanics - Wood transport during high flow events is here treated as an advective–diffusive phenomenon. A theoretical definition of the governing equation is first...