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.     

Genetic evidence fails to discriminate between <Emphasis Type="Italic">Macroramphosus gracilis</Emphasis> Lowe 1839 and <Emphasis Type="Italic">Macroramphosus</Emphasis><Emphasis Type="Italic">scolopax</Emphasis> Linnaeus 1758 in Portuguese waters

Fish belonging to the genus Macroramphosus are distributed throughout the Atlantic, Indian and Pacific oceans. Some authors consider this genus monotypic, Macroramphosus scolopax being the only valid species. Other authors consider (based on several morphological and ecological characters) that another species (Macroramphosus gracilis) exists and occurs frequently in sympatry with the first one. Intermediate forms are also reported in literature. In this paper, using the mitochondrial control region and the nuclear first S7 intron markers, we failed to find genetic differences between individuals considered to belong to both species as well as the intermediate forms. Our results suggest that in the northeastern Atlantic, Macroramphosus is represented by a single species, M. scolopax, with different morphotypes interbreeding in the sampling areas.     

Out with the garbage: the parasitic strategy of the mantisfly Plega hagenella mass-infesting colonies of the eusocial bee Melipona subnitida in northeastern Brazil

Between April and June of 2012 mantisflies (Plega hagenella) were found to be extensively parasitizing the nests of two groups of managed colonzies of eusocial stingless bees (Melipona subnitida) in the semi-arid region of northeastern Brazil. The mantisfly larvae developed inside closed brood cells of the bee comb, where each mantispid larva fed on the bee larva or pupa present in a single brood cell. Mature mantispid larvae pupated inside silken cocoons spun in place within their hosts' brood cells then emerged as pharate adults inside the bee colony. Pharate adults were never attacked and killed by host colony workers. Instead, colony workers picked up the pharates and removed them from the nest unharmed, treating them similar to the way that the general refuse is removed from the nest. Adult mantispids subsequently eclosed from their pupal exuviae outside the nest. Manipulative experiments showed that post-eclosion adult mantispids placed back within active bee colonies were quickly attacked and killed. These observations demonstrate that pharate and post-eclosion adults of P. hagenella are perceived differently by colony workers and that delayed adult eclosion is an important functional element in the parasitic life strategy of P. hagenella, allowing adults to escape without injury from the bee colonies they parasitize.     

Correction to: Ecological restoration as a strategy for mitigating and adapting to climate change: lessons and challenges from Brazil

Mitigation and Adaptation Strategies for Global Change - The original version of the article unfortunately contained an error.     

Patterns and levels of halogenated volatile compounds in Portuguese surface waters

The present study focused on monitoring the concentration of 14 halogenated volatile organic compounds in surface waters, including sea, estuarine, river water and industrial effluents in order to determine the most ubiquitous compounds and their concentration levels, which were used to establish their geographical and temporal distribution. EPA Method 502, based on purge and trap techniques, was used. In this method volatile organic pollutants are extracted (purged) from the water sample by bubbling inert gas through the aqueous sample. Purged sample components are trapped in a cartridge containing the polymeric sorbent Tenax and, thereafter, the cartridge is heated and backflushed with helium to desorb the trapped sample components directly into a gas chromatograph with electron capture detector (GC-ECD). The linearity range of the method varied from 0.1 to 4 microg L(-1) with a limit of detection at the low microg L(-1) level. The present study consisted of a monthly monitoring of 46 points throughout Portugal, during 14 months. Chloroform was found in 50% of the samples analyzed, its presence being correlated to both agricultural and industrial activities. Other compounds detected were tetrachloroethylene, trichloroethylene, carbon tetrachloride and 1,2,4 trichlorobenzene, which were present in 10-20% of the samples at concentrations up to 18 microg L(-1). 1,1,2,2-Tetrachloroethane and its degradation product 1,1,2-trichloroethane were found in 5% of the samples, the levels of the latter being higher than those of the parent compound in most samples. Sporadic high concentrations of some volatile halogenated organic compounds were attributed to local uses as solvents.     

Evaluation of surface water quality using an ecotoxicological approach: a case study of the Alqueva Reservoir (Portugal)

Background, aim, and scope  

Freshwater reservoirs can be impacted by several hazardous substances through inputs from agricultural activity, sewage discharges, and groundwater leaching and runoff. The water quality assessment is very important for implementation of the monitoring and remediation programs to minimize the risk promoted by hazardous substances in aquatic ecosystems. Evaluation of the degree of contamination of aquatic environments must not take in account only its chemical characterization but it must be complemented with biological assays, which determine potential toxic effects and allows an integrated evaluation of its effects in populations and aquatic ecosystem communities. The application of this type of strategy has clear advantages allowing a general evaluation of the effects from all the water components, including those due to unknown substances and synergic, antagonistic, or additive effects. There are only a few studies that reported ecotoxicological acute end points, for the assessment of surface water quality, and the relationship among toxicity results and the anthropogenic pollution sources and the seasonal period. The aim of this study was to assess the ecotoxicological characterization of the surface water from Alqueva reservoir (South of Portugal) and to evaluate the influence of anthropogenic sources of pollution and their seasonal variation in its toxicity. The construction of Alqueva reservoir was recently finished (2002) and, to our knowledge, an ecotoxicological assessment of its surface water has not been performed. Because of that, no information is available on the possible impact of pollutants on the biota. The surface water toxicity was assessed using acute and chronic bioassays. The results are to be used for developing a monitoring program, including biological methods.     

Application of diatom biotic indices in the Guadalquivir River Basin, a Mediterranean basin. Which one is the most appropriated?

The diatom community was studied in 110 sites within the Guadalquivir River catchment area, South Spain, in order to test the applicability of diatom biotic indices developed in other European regions to this site and to provide a useful tool for monitoring water quality in the river basin. We identified 399 taxa and calculated five diatomic indices (Specific Polluosensitivity Index (IPS), Biological Diatom Index, Trophic Diatom Index, Index of the European Economic Community, and Diatom-based Eutrophication Pollution Index (EPI-D)). Since the indices analyzed were highly correlated, their results could be compared. The indices that gave the best results were the EPI-D followed by the IPS, the latter being the most widely used index in Iberian catchments. Nevertheless, the EPI-D presented certain advantages: (1) this index correlated the best with the water chemistry in the catchment area; (2) EPI-D is not sensitive to the presence of taxa belonging to the Achnanthidium minutissimum complex frequently present in the Guadalquivir basin. Nevertheless, EPI-D retains its effectiveness and thus constitutes an easier index for application from a taxonomical standpoint. We estimated the general water quality of the entire basin on the basis of EPI-D. According to these results, 55% of the sites had either high or good water quality. The species that better characterized each water quality category in the study area were: A. minutissimum (high and good), Amphora pediculus (moderate), Nitzschia frustulum (poor), and Nitzschia capitellata (bad).     

The influence of a real job on upper limb performance in motor skill tests: which abilities are transferred?

To investigate whether the specificities of real jobs create distinctions in the performance of workers in different motor tests for the upper limbs, 24 participants were divided into two groups according to their specific job: fine and repetitive tasks and general tasks. Both groups reproduced tasks related to aiming movements, handling and strength of the upper limbs. There were no significant differences between groups in the dexterity and performance of aiming movements. However, the general tasks group had higher grip strength than the repetitive tasks group, demonstrating differences according to job specificity. The results suggest that a particular motor skill in a specific job cannot improve performance in other tasks with the same motor requirements. The transfer of the fine and gross motor skills from previous experience in a job-specific task is the basis for allocating training and guidance to workers.     

Effects of howler monkey reintroduction on ecological interactions and processes

Rewilding has been an increasingly popular tool to restore plant–animal interactions and ecological processes impaired by defaunation. However, the reestablishment of such processes has seldom been assessed. We investigated the restoration of ecological interactions following the reintroduction of the brown howler monkey (Alouatta guariba) to a defaunated Atlantic forest site. We expected the reintroduction to restore plant–animal interactions and interactions between howlers and dung beetles, which promote secondary seed dispersal. We estimated the number of interactions expected to be restored by the reintroduction to provide the baseline interaction richness that could be restored. We followed the reintroduced howler monkeys twice a week for 24 months (337 hours total) to assess their diet. We used howler monkey dung in secondary seed dispersal experiments with 2484 seed mimics to estimate the removal rates by dung beetles and collected the beetles to assess community attributes. We compared the potential future contribution of howler monkeys and other frugivores to seed dispersal based on the seed sizes they disperse in other areas where they occur. In 2 years, howler monkeys consumed 60 animal-dispersed plant species out of the 330 estimated. Twenty-one dung beetle species were attracted to experimentally provided dung; most of them were tunnelers, nocturnal, and large-sized (>10 mm). On average 30% (range 0–100%) of the large seed mimics (14 mm) were moved by dung beetles. About 91% of the species consumed by howlers (size range 0.3–34.3 mm) overlapped in seed size with those removed by dung beetles. In our study area, howler monkeys may consume more large-seeded fruit species than most other frugivores, highlighting their potential to affect forest regeneration. Our results show reintroductions may effectively restore ecological links and enhance ecological processes.     

Aqueous solubility, effects of salts on aqueous solubility, and partitioning behavior of hexafluorobenzene: experimental results and COSMO-RS predictions

The aqueous solubility of hexafluorobenzene has been determined, at 298.15 K, using a shake-flask method with a spectrophotometric quantification technique. Furthermore, the solubility of hexafluorobenzene in saline aqueous solutions, at distinct salt concentrations, has been measured. Both salting-in and salting-out effects were observed and found to be dependent on the nature of the cationic/anionic composition of the salt. COSMO-RS, the Conductor-like Screening Model for Real Solvents, has been used to predict the corresponding aqueous solubilities at conditions similar to those used experimentally. The prediction results showed that the COSMO-RS approach is suitable for the prediction of salting-in/-out effects. The salting-in/-out phenomena have been rationalized with the support of COSMO-RS σ-profiles. The prediction potential of COSMO-RS regarding aqueous solubilities and octanol-water partition coefficients has been compared with typically used QSPR-based methods. Up to now, the absence of accurate solubility data for hexafluorobenzene hampered the calculation of the respective partition coefficients. Combining available accurate vapor pressure data with the experimentally determined water solubility, a novel air-water partition coefficient has been derived.