A pipette method for rapid karyotyping in prenatal diagnosis

The 'pipette method' is introduced as a method of prenatal diagnosis which is in competition with the 'in situ' and the 'trypsinization' technique. It is sufficiently standardized for routine diagnosis and the banding techniques currently used in prenatal diagnosis (G, Q, C-banding and NOR) have been adapted for it. In 180 cases from 27 different centres, the 'pipette method' was employed for chromosomal harvesting in order to save time. An average of 6·6 days was taken to achieve a result. There was a pathological karyotype in 28 cases (16·1 per cent) and this high proportion can be related to cases where ultrasound scan has led to a diagnosis of 'suspected chromosomal abnormality'. This technique is also of use in advanced stages of pregnancy. The early recognition of the fetal karyotype can contribute to the future management of the pregnancy. The 'pipette method' can also be used in chromosomal harvesting of tumour cells and fibroblast cultures.     

New contributions to the study of common double mutants in the human <Emphasis Type="Italic">LDL</Emphasis> receptor gene

Variations in the gene encoding the low-density lipoprotein receptor (LDLR) can cause familial hypercholesterolemia (FH), one of the most common inherited metabolic disorders in humans. The functional effects of the p.Gln92Glu and p.Asn564His alterations are predicted as benign, but the c.313 + 1G>C and p.Lys799_Phe801del changes are believed to cause disease. Although p.Gln92Glu and c.313 + 1G>C have been observed only in Spain, p.Asn564His and p.Lys799_Phe801del are widespread in Western Europe. In order to estimate the ages (t generations) of these four variants of the gene, to determine their possible origin and to consider the influence of age and selective pressure on their spread, we analyzed 86 healthy individuals and 126 FH patients in Spain. Most of the FH patients investigated carried two of these four LDLR variants simultaneously, while only one patient carried three of them simultaneously. Haplotype analyses were based on five LDLR SNPs: c.81T>C, c.1413G>A, c.1725C>T, c.1959T>C and c.2232G>A. The results suggest that p.Gln92Glu and c.313 + 1G>C arose at about the same time (99 and 103 generations ago, respectively) in the CACTG haplotype and that p.Asn564His and p.Lys799_Phe801del appeared in the CGCCG haplotype and might be slightly more recent variations (92 and 95 generations ago, respectively). Low selective pressures could explain the maintenance of these variants in spite of their ages. The origin of p.Gln92Glu and c.313 + 1G>C appears to be in Spain whereas p.Asn564His and p.Lys799_Phe801del could have been introduced in Spain by Celtic migrations in the seventh to fifth centuries BC.     

Immune activation affects chemical sexual ornaments of male Iberian wall lizards

Many animals use chemical signals in sexual selection, but it is not clear how these sexual traits might have evolved to signal honestly male condition. It is possible that there is a trade-off between maintaining the immune system and the elaboration of ornaments. We experimentally challenged the immune system of male Iberian wall lizards, Podarcis hispanica, with a bacterial antigen (lipopolysaccharide), without pathogenic effects, to explore whether the immune activation affected chemical ornaments. Immune activation resulted in decreased proportions of a major chemical in femoral secretions (cholesta-5,7-dien-3-ol = provitamin D(3)) known to be selected in scent of males by females and which active form (vitamin D) has a variety of important effects on immune system function. This result suggests the existence of a potential trade-off between physiological regulation of the immune system and the allocation of essential nutrients (vitamins) to sexual chemical ornaments in male lizards.     

Impacts of mussel dredging on sediment phosphorus dynamics in a eutrophic Danish fjord

Effects of mussel dredging on sediment metabolism (oxygen uptake and sulfate reduction rates) and phosphorus dynamics (flux across sediment-water interface and sequential extraction) were examined in Limfjorden (Denmark) during spring (May) and summer (August). Sediment samples were taken during mussel dredging and in addition an experimental simulation of the dredging was performed to investigate short-term changes in phosphorus (P) dynamics. Iron-bound P was reduced by up to 2/3 in the surface layer in the dredging track (from 31 to 8?mmol?P?m^?2), whereas the dissolved P-pools and less reactive particulate pools were not affected by dredging. Sediment oxygen consumption was enhanced immediately after dredging, but returned to the initial level after 4 days (20–40?mmol?m^?2?d^?1). The enhanced consumption was attributed to reoxidation of reduced compounds released during dredging. Sulfate reduction rates were high in the area (13–15?mmol?m^?2?d^?1) and sulfides competed with P for oxidized iron resulting in low iron-bound pools in the area (<4% of total P pools). Sulfate reduction rates were stimulated by the resuspension of sediments, especially in August, where a subsurface maximum was found, possibly due to a mixing of labile organic matter into these layers. In contrast sulfate reduction rates were reduced in the dredging track due to removal of labile organic matter from the surface layers. The loss of P during dredging was to some extent counteracted by regeneration of iron-bound P pools in the surface layers. The release of P due to mussel dredging was estimated to be in the same order of magnitude as the annual loading from the catchments and point sources to Limfjorden.     

Elevated temperature elicits greater effects than decreased pH on the development, feeding and metabolism of northern shrimp (Pandalus borealis) larvae

Climate models predict that the average temperature in the North Sea could increase 3–5 °C and surface-waters pH could decrease 0.3–0.5 pH units by the end of this century. Consequently, we investigated the combined effect of decreased pH (control pH 8.1; decreased pH 7.6) and temperature (control 6.7 °C; elevated 9.5 °C) on the hatching timing and success, and the zoeal development, survival, feeding, respiration and growth (up to stage IV zoea) of the northern shrimp, Pandalus borealis. At elevated temperature, embryos hatched 3 days earlier, but experienced 2–4 % reduced survival. Larvae developed 9 days faster until stage IV zoea under elevated temperature and exhibited an increase in metabolic rates (ca 20 %) and an increase in feeding rates (ca 15–20 %). Decreased pH increased the development time, but only at the low temperature. We conclude that warming will likely exert a greater effect on shrimp larval development than ocean acidification manifesting itself as accelerated developmental rates with greater maintenance costs and decreased recruitment in terms of number and size.     

Quantifying and mapping species threat abatement opportunities to support national target setting

The successful implementation of the Convention on Biological Diversity's post-2020 Global Biodiversity Framework will rely on effective translation of targets from global to national level and increased engagement across diverse sectors of society. Species conservation targets require policy support measures that can be applied to a diversity of taxonomic groups, that link action targets to outcome goals, and that can be applied to both global and national data sets to account for national context, which the species threat abatement and restoration (STAR) metric does. To test the flexibility of STAR, we applied the metric to vascular plants listed on national red lists of Brazil, Norway, and South Africa. The STAR metric uses data on species’ extinction risk, distributions, and threats, which we obtained from national red lists to quantify the contribution that threat abatement and habitat restoration activities could make to reducing species’ extinction risk. Across all 3 countries, the greatest opportunity for reducing plant species’ extinction risk was from abating threats from agricultural activities, which could reduce species’ extinction risk by 54% in Norway, 36% in South Africa, and 29% in Brazil. Species extinction risk could be reduced by a further 21% in South Africa by abating threats from invasive species and by 21% in Brazil by abating threats from urban expansion. Even with different approaches to red-listing among countries, the STAR metric yielded informative results that identified where the greatest conservation gains could be made for species through threat-abatement and restoration activities. Quantifiably linking local taxonomic coverage and data collection to global processes with STAR would allow national target setting to align with global targets and enable state and nonstate actors to measure and report on their potential contributions to species conservation.     

Psychological and physiological stress reactions of male and female assembly workers: a comparison between two different forms of work organization

Psychological and physiological stress responses of 36 male and 29 female assembly workers were examined during and after work at a car engine factory. Two different ways of organizing assembly work were compared, (1) a more traditional assembly line with fixed work stations organized as a chain and involving short repetitive work cycles and, (2) a new and more flexible work organization with small autonomous groups having greater opportunities to influence the pace and content of their work. Each worker was examined during and after a normal day at work on 2 consecutive days and, in order to obtain endocrine baseline data, during a corresponding work‐free period at home. As expected, both female and male workers in the flexible organization reported significantly more variation, independence and abilities to learn new skills at work. Workers in both forms of work organization showed a significant increase in urinary epinephrine and norepinephrine during work compared to the work‐free day at home. Males had significantly higher epinephrine and systolic blood pressure levels than females. Successive self‐reports of tiredness increased significantly more at the assembly line compared to the flexible work organization. In keeping with this, systolic blood pressure, heart rate and epinephrine increased significantly during the work shift at the assembly line but not during work in the flexible organization. Catecholamine levels revealed that the subjects were able to unwind more rapidly after work in the flexible organization. This pattern was particularly pronounced for the female workers. In summary, the various stress indicators support the notion that the flexible work organization induces less stress than the assembly line and that the female workers were able to benefit most from this new form of work organization. Copyright © 1999 John Wiley & Sons, Ltd.