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Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to highlight the prenatal diagnosis of WABS through ultrasound findings and genetic testing. We report a case of prenatal diagnosis of WABS in a 24‐week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal‐systemic shunts. The couple had a history of a prior pregnancy termination due to severe intrauterine growth restriction and cerebral malformations. Whole exome sequencing revealed compound heterozygous pathogenic variants [NM_030653.4:c.1403dupT, p.(Ser469Valfs*32) and c.1672C>T, p.(Arg558*)] in the DDX11 gene, consistent with WABS. The same pathogenic variants were identified in the prior terminated fetus upon subsequent analysis. Postmortem examination of the proband confirmed the prenatal ultrasound findings. This case expands the understanding of the prenatal phenotypic spectrum of WABS by identifying specific cerebral and extracerebral anomalies associated with pathogenic variants in the DDX11 gene. Incorporating advanced genetic diagnostics like whole exome sequencing into prenatal care provides valuable information for genetic counseling and management of rare genetic disorders. [ABSTRACT FROM AUTHOR]

Intravitreally administered lampalizumab is an investigational complement inhibitor directed against complement factor D (CFD) for the treatment of geographic atrophy (GA) secondary to age-related macular degeneration. We sought to develop an integrated ocular and systemic pharmacokinetic/pharmacodynamic model for lampalizumab in patients with GA using the data from the clinical phase I and II studies. The kinetics of lampalizumab and CFD disposition were well described by the combined ocular/serum target-mediated drug disposition model using a quasi-steady-state approximation. This model takes into account the drug, target, and drug-target complex clearance, their transfer rates between ocular and serum compartments, and turnover kinetics of CFD. The constructed model provided a prediction of target occupancy in ocular tissues and supported that the two dosing regimens (10 mg q4w and 10 mg q6w) selected for the phase III studies are expected to be efficacious and able to achieve near-complete target engagement in the vitreous humor. [ABSTRACT FROM AUTHOR]

A technique using 51chromium-labelled erythrocytes was used to measure blood volume in Scyliorhinus canicula following long-term and acute salinity transfers. Basal whole-blood volume was 5·6 ± 0·2 ml 100 g−1 (mean ±s.e.), this increased (6·3 ± 0·2 ml 100 g−1) following +14 day acclimation to 80% sea water (SW) and decreased (4·6 ± 0·2 ml 100 g−1) following acclimation to 120% SW. These changes were shown to be primarily due to changes in plasma volume, with no significant changes in extrapolated red-cell volume being demonstrated. Blood volume was also measured in the same animals during 10 h acute transfer to 100% SW. Plasma volume in S. canicula during acclimation from 80% SW was significantly reduced (4·5 ± 0·3 ml 100 g−1) after 6 h of transfer to 100% SW. Blood volume in animals during acclimation from 120% SW was significantly increased (4·8 ± 0·2 ml 100 g−1) after 4 h of acute transfer. The osmoregulatory implications of these different timeframes during hyposaline and hypersaline transfer are discussed, along with the importance of this in vivo technique as context for in vitro studies with haemo-dynamic stimuli. [ABSTRACT FROM AUTHOR]

To compare rectal gland morphology of bull sharks Carcharhinus leucas, animals captured in the freshwater reaches of the Brisbane River, Australia, were acclimated to sea water over 17 days with 1 week in the final salinity. A control group was left in fresh water for 17 days. Animals in fresh water and sea water were strongly hyper- and hypo-ionic with respect to plasma Na+ and Cl–, respectively. This difference necessitates NaCl secretion by the rectal gland in sea water and conservation of NaCl in fresh water. Structural differences in the rectal gland of freshwater and seawater acclimated bull sharks were limited. There was no difference in rectal gland cross-sectional area, lumen area, rectal gland vein area, number of secretory tubules or secretory cells per secretory tubule in freshwater and seawater acclimated animals. At a cellular level, there was no difference between the degree of basolateral and lateral folding, number of mitochondria or number of desmosomes per tight junction. Tight junction width was significantly greater in seawater acclimated animals. The number of red blood cells in the interstitial tissue was also significantly higher in seawater acclimated animals, possibly as a result of increased blood perfusion of the secretory epithelia. The lack of major structural changes in the rectal glands of bull sharks acclimated to fresh water and sea water most likely represents the salinity gradient in the Brisbane River where animals are found throughout the river and can experience large fluctuations in salinity over short distances. Differences in rectal gland morphology of bull sharks in fresh water and sea water are discussed in terms of their relevance to osmoregulation in elasmobranchs. [ABSTRACT FROM AUTHOR]

Triplicate groups of European sea bass (Dicentrarchus labraxL.), of initial weight 90 g, were fed four practical-type diets in which the added oil was 1000 g kg−1 fish oil (FO) (control diet), 600 g kg−1 rapeseed oil (RO) and 400 g kg−1 FO, 600 g kg−1 linseed oil (LO) and 400 g kg−1 FO, and 600 g kg−1 olive oil (OO) and 400 g kg−1 FO for 34 weeks. After sampling, the remaining fish were switched to the 1000 g kg−1 FO diet for a further 14 weeks. Fatty acid composition of flesh total lipid was influenced by dietary fatty acid input but specific fatty acids were selectively retained or utilized. There was selective deposition and retention of docosahexaenoic acid (DHA; 22:6n-3). Eicosapentaenoic acid (EPA; 20:5n-3) and DHA were significantly reduced and linolenic (LNA; 18:3n-3), linoleic (LA; 18:2n-6) and oleic (OA; 18:1n-9) acids significantly increased in flesh lipids following the inclusion of 600 g kg−1 RO, LO and OO in the diets. No significant differences were found among different treatments on plasma concentrations of prostaglandin E2 and prostaglandin F2α. Evaluation of non-specific immune function, showed that the number of circulating leucocytes was significantly affected (P < 0.001), as was macrophage respiratory burst activity (P < 0.006) in fish fed vegetable oil diets. Accumulation of large amounts of lipid droplets were observed within the hepatocytes in relation to decreased levels of dietary n-3 HUFA, although no signs of cellular necrosis was evident. After feeding a FO finishing diet for 14 weeks, DHA and total n-3 HUFA levels were restored to values in control fish although EPA remained 18% higher in control than in the other treatments. This study suggests that vegetable oils such as RO, LO and OO can potentially be used as partial substitutes for dietary FO in European sea bass culture, during the grow out phase, without compromising growth rates but may alter some immune parameters. [ABSTRACT FROM AUTHOR]

We present a multisite analysis of the relationship between plant diversity and ecosystem functioning within the European BIODEPTH network of plant-diversity manipulation experiments. We report results of the analysis of 11 variables addressing several aspects of key ecosystem processes like biomass production, resource use (space, light, and nitrogen), and decomposition, measured across three years in plots of varying plant species richness at eight different European grassland field sites. Differences among sites explained substantial and significant amounts of the variation of most of the ecosystem processes examined. However, against this background of geographic variation, all the aspects of plant diversity and composition we examined (i.e., both numbers and types of species and functional groups) produced significant, mostly positive impacts on ecosystem processes. Analyses using the additive partitioning method revealed that complementarity effects (greater net yields than predicted from monocultures due to resource partitioning, positive interactions, etc.) were stronger and more consistent than selection effects (the covariance between monoculture yield and change in yield in mixtures) caused by dominance of species with particular traits. In general, communities with a higher diversity of species and functional groups were more productive and utilized resources more completely by intercepting more light; taking up more nitrogen, and occupying more of the available space. Diversity had significant effects through both increased vegetation cover and greater nitrogen retention by plants when this resource was more abundant through N2 fixation by legumes. However, additional positive diversity effects remained even after controlling for differences in vegetation cover and for the presence of legumes in communities. Diversity, effects were stronger on above- than belowground processes. In particular, clear diversity effects on decomposition were only observed at one of the eight sites. The ecosystem effects of plant diversity also varied between sites and years. In general, diversity effects were lowest in the first year and stronger later in the experiment, indicating that they were not transitional due to community establishment. These analyses of our complete ecosystem process data set largely reinforce our previous results, and those from comparable biodiversity experiments, and extend the generality of diversity-ecosystem functioning relationships to multiple sites, years, and processes. [ABSTRACT FROM AUTHOR]

In the European lesser-spotted dogfish Scyliorhinus canicula , rectal gland mass in mg (M[sub Rg] ) followed the allometric relationship: M[sub Rg] = 1·15M[sup 0·68] , where M is body mass (g). The concept of allometric scaling is an important consideration in studies investigating the function of osmoregulatory organs. [ABSTRACT FROM AUTHOR]

Chloride secretion rates of rectal glands taken from the European lesser-spotted dogfishScyliorhinus canicula adapting to 70% and 120% sea water (SW) were significantly greater and less than, respectively, those in the control 100% SW group. C-type natriuretic peptide (CNP) significantly increased chloride secretion rates above basal values in 100% SW although angiotenisn II (ANG II) had no effect. Perfusion of the secretory epithelia in rectal glands from 70% SW lesser-spotted dogfish was significantly higher than in rectal glands from 100% and 120% SW lesser-spotted dogfish. Perfusion of rectal glands with ANG II had no effect on perfusion of the secretory epithelia, although CNP perfusion induced significantly greater perfusion of the secretory epithelia than all other treatments. It remains to be determined if a reduction in environmental salinity induces an increase in plasma concentration of CNP and hence an increase in rectal gland activity. Copyright 2002 The Fisheries Society of the British Isles. Published by Elsevier Science Ltd. All rights reserved. [Copyright &y& Elsevier]

Geographic variation can lead to the evolution of different local varieties, even in widespread forage plants. We investigated the performance of common forage plants in relation to their genetic diversity and local adaptation at a continental scale using reciprocal transplants at eight field sites across Europe over a 2-year period. The overall performance of the three test species, Trifolium pratense, Dactylis glomerata, Plantago lanceolata, was generally highest for plants replanted at their home site and declined with increasing transplanting distance. The three species differed in the fitness components responsible for the increased overall performance and selection advantage at home sites. In addition to the effects of local adaptation, the majority of measured traits in all three species also showed ecotypic variation. However, no single ecotype of any species was able to outperform the locally adapted strains and do best at all sites, highlighting the importance of maintaining these plant genetic resources. [ABSTRACT FROM AUTHOR]

AbstractReinstatement of vegetation to a similar condition to that prior to disturbance is often required in industrial restoration schemes. Seeding with specially prepared seed mixes containing species suited to local soils is often the preferred option on grounds of practicality and cost. Turf translocation is more difficult and costly but, if successful, meets the reinstatement requirement more precisely. In a pilot study at a proposed opencast coal site in Wales, we compared the effectiveness of whole-turf translocation of herb-rich mesic grassland communities, with a less technically demanding and more cost-effective technique involving spreading turf over twice the area at the receiver site and rotovating it into the underlying soil. The translocated whole turf and rotovated turf plots were cut annually and the vegetation removed to simulate grazing that had occurred prior to translocation. Both the whole-turf and rotovated turf transplant techniques gave successful re-establishment of 50% or more of the species originally present. After three years, the cover and species composition were similar in “whole-turf” and “spread and rotovated” plots. This suggests that the “spread and rotovate” technique provides a satisfactory ecological alternative to whole-turf translocation. However, plant communities changed, in some cases substantially, after translocation using either technique. Altered soil hydrology and nutrition combined with the substitution of cutting for grazing are probably the main causes of these changes. [ABSTRACT FROM AUTHOR]

1. Pedunculate Oak trees were grown in ambient and elevated temperatures and CO2. Leaves were fed to Winter Moth caterpillars reared either in constant conditions or with the trees (caged or on-tree). 2. Caterpillars in constant conditions ate the same mass and produced the same mass of faeces whether fed elevated or ambient temperature leaves. However, less was assimilated from elevated leaves, resulting in lighter pupae and fewer, lighter eggs. 3. Caterpillars in constant conditions ate more and produced more faeces when fed elevated CO2 leaves than when fed ambient CO2 leaves, but the mass assimilated and pupal mass were unchanged. 4. Caged caterpillars reared with the trees from which they were fed had constant pupal mass in all treatments, but pupated earlier at elevated temperature. Pupal mass was also unaffected when caterpillars fed on the trees. 5. Nitrogen was reduced in both elevated temperature and elevated CO2 leaves. Increased fibre in the former prevented increased consumption and resulted in reduced pupal mass and fecundity. Reduced fibre in the latter allowed increased consumption, resulting in pupae of normal mass. 6. Despite the clear effect of nutrient quality, experiments rearing caterpillars and trees together suggest that anticipated climatic change will have no nutritional effect on Winter Moth development. [ABSTRACT FROM AUTHOR]

The British National Vegetation Classification (NVC) was used to describe the vegetation of a 49 000 ha upland conifer plantation in north-east England. The survey covered unplanted land, including roads, rides, rivers and larger unplanted areas, together with first-rotation conifer crops and restocked areas. Eighteen NVC communities and sub-communities were recognized, of which nine accounted for most of the unplanted land. In conifer plantation, 17% of stands had no vegetation, while in a further 40% the vegetation cover and species diversity was too low to allow fitting to recognizable NVC communities. Only five communities were recognized within planted stands. Variation in the floristic composition of vegetation assigned to a single community reflected both natural variability, related to altitude and soils, and forestry operations, including changes in land management, ploughing and planting. Species characteristic of low intensity agricultural management were frequent and often dominated the vegetation. Plant communities associated with more extreme environmental conditions, high altitudes and deep peats, were most sensitive to afforestation. In contrast, widely distributed communities composed mainly of cosmopolitan species were relatively resilient to the effects of plantations. [ABSTRACT FROM AUTHOR]

Abstract Rising levels of atmospheric CO2 are expected to perturb forest ecosystems, although the extent to which specific ecological interactions will be modified is unclear. This research evaluates the effects of elevated CO2 and temperature, alone and in combination, on the leaf nutritional quality of Pendunculate oak (Quercus robur L.), and the implications for herbiverous insect defoliators are discussed. A 3 °C temperature rise reduced leaf nutritional quality, by reducing foliar nitrogen concentration and increasing condensed tannin content. Doubling atmospheric CO2 temporarily increased total phenolics, but also reduced leaf toughness. The nutritional quality of the second leaf flush (lammas growth) was considerably reduced at elevated CO2. It is concluded that larval development of spring-feeding defoliators and hence adult fecundity may be adversely affected by increased temperatures. [ABSTRACT FROM AUTHOR]