Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring in up to 70% of total identified variants due to a lack of experimental studies. Genetic variants affecting potential splice site variants are among the most difficult to interpret. The aim of this study was to examine rare intronic variants identified in the exonic flanking sequence to meet two main objectives: first, to validate that canonical intronic variants produce aberrant splicing; second, to determine whether rare intronic variants predicted as VUS may affect the splicing product. To achieve these objectives, 28 heart samples of cases of SCD carrying rare intronic variants were studied. Samples were analyzed using 85 SCD genes in custom panel sequencing. Our results showed that rare intronic variants affecting the most canonical splice sites displayed in 100% of cases that they would affect the splicing product, possibly causing aberrant isoforms. However, 25% of these cases (1/4) showed normal splicing, contradicting the in silico results. On the contrary, in silico results predicted an effect in 0% of cases, and experimental results showed >20% (3/14) unpredicted aberrant splicing. Thus, deep intron variants are likely predicted to not have an effect, which, based on our results, might be an underestimation of their effect and, therefore, of their pathogenicity classification and family members’ follow-up.     

Probability matching involves rule-generating ability: A neuropsychological mechanism dealing with probabilities.

Probability matching is a nonoptimal strategy consisting of selecting each alternative in proportion to its reinforcement contingency. However, matching is related to hypothesis testing in an incidental, marginal, and methodologically disperse manner. Although some authors take it for granted, the relationship has not been demonstrated. Fifty-eight healthy participants performed a modified, bias-free probabilistic two-choice task, the Simple Prediction Task (SPT). Self-reported spurious rules were recorded and then graded by two independent judges. Participants who produced the most complex rules selected the probability matching strategy and were therefore less successful than those who did not produce rules. The close relationship between probability matching and rule generating makes SPT a complementary instrument for studying decision making, which might throw some light on the debate about irrationality. The importance of the reaction times, both before and after responding, is also discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Tracking and inferring spatial rotation by children and great apes.

Finding hidden objects in space is a fundamental ability that has received considerable research attention from both a developmental and a comparative perspective. Tracking the rotational displacements of containers and hidden objects is a particularly challenging task. This study investigated the ability of 3-, 5-, 7-, and 9-year-old children and great apes (chimpanzees, bonobos, gorillas, and orangutans) to (a) visually track rotational displacements of a baited container on a platform and (b) infer its displacements by using the changes of position or orientation of 3 landmarks: an object on a container, the color of the containers, and the color of the platform on which the containers rested. Great apes and 5-year-old and older children successfully tracked visible rotations, but only children were able to infer the location of a correct cup (with the help of landmarks) after invisible rotations. The ability to use landmarks changed with age so that younger children solved this task only with the most explicit marker on the baited container, whereas older children, particularly 9-year-olds, were able to use landmark orientation to infer correct locations. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Digital Footprinting: Uncovering Tourists with User-Generated Content

Novel methods and tools are being developed to explore the significance of the new types of user-related spatiotemporal data. This approach helps uncover the presence and movements of tourists from cell phone network data and the georeferenced photos they generate.     

Liquid conservation in orangutans (Pongo pygmaeus) and humans (Homo sapiens): Individual differences and perceptual strategies.

Four orangutans (1 juvenile, 2 subadults, and 1 adult) and 10 6–8-yr-old children were tested in 4 liquid conservation tasks of increasing levels of difficulty. Task difficulty depended on the type of transformation (continuous vs discontinuous quantities) and the relative contrast between the shapes of the containers. Results indicate that orangutans did not display conservation in the strict sense; instead they showed "partial" conservation (intermediate reactions according to J. Piaget & B. Inhelder, 1941). In contrast, some of the children provided evidence of conservation in all 4 tasks, showing "true" or logically necessary conservation in the original sense proposed by J. Piaget and B. Inhelder (1941). Although orangutans did not show conservation in the strict sense, as J. Piaget (1955) and others have generally agreed it should be defined, orangutans behaved as individual and creative problem solvers, adopting different perceptual strategies depending on the task. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Using liquid superheating energy for a quick estimation of overpressure in BLEVEs and similar explosions

A method is proposed for the quick estimation of the peak overpressure caused by a Boiling Liquid Expanding Vapor Explosion (BLEVE) or a similar explosion. The method is based on the use of the "superheating energy" (SE), which is the difference between the specific enthalpy of the liquid at the temperature just before the explosion and the specific enthalpy of the liquid at its saturation temperature, at atmospheric pressure. The analysis performed with a set of reference substances showed that in a BLEVE or in similar explosions, the energy converted into overpressure will range between 3.5 and 14% of SE. The comparison of the values thus obtained with experimental data from the literature shows a fairly good agreement.     

Prestige oil spill. III. Fate of a heavy oil in the marine environment

More than 200 oil samples were collected along the Northern Spanish coast, from December 2002 to December 2003, as part of the extensive monitoring program carried out by the Spanish Marine Safety Agency after the Prestige heavy oil spill (November 13, 2002). The GC FPD/ FID and comprehensive GC x GC/TOFMS sample profiles revealed the main characteristics of the oil residues. Chemical fingerprinting of the aliphatic and aromatic fractions by GC/ MS was performed to determine the source of the oil as well as to follow its weathering at sea. The (n-C13 + n-C14)/(n-C25 + n-C26), n-C18/phytane, and methylnaphthalene [(N + N1)/N2] ratios were found to be useful for assessing the evaporation, biodegradation, and dissolution processes, respectively. Other indicators of more advanced degradation processes, including photo-oxidation, were unaltered, showing the low incidence of natural weathering processes on the spilled heavy oil 1 year after the accident. The survey also demonstrated the occurrence of continued discharges of ballast waters at sea and the need for a more stringent surveillance of the area, beyond accidental oil spills.     

Elimination of pharmaceuticals and personal care products in subsurface flow constructed wetlands

Removal efficiency and elimination rates of 11 pharmaceuticals and personal care products (PPCPs)were measured in two subsurface horizontal flow constructed wetlands (SSFs) characterized by different water depths (i.e. 0.3 and 0.5 m) in a 2-year study. Dissolved and particulate phases of wastewater and gravel samples were collected and analyzed. The PPCP influent concentration ranged from 1 to 25 microg L(-1). The best removal efficiency was found in the shallower bed SSF due to its less negative redox potential. PPCPs were classified in four groups according to their removal behavior: (i) the efficiently removed (>80%) namely caffeine, salicylic acid, methyl dihydrojasmonate, and carboxy-ibuprofen, (ii) the moderately removed (50-80%) namely ibuprofren, hydroxy-ibuprofen, and naproxen, (iii) the recalcitrant to the elimination namely ketoprofen and diclofenac, and,finally, (iv) compounds that were eliminated by hydrophobic interactions namely polycyclic musks (i.e. galaxolide and tonalide). These compounds were removed more than 80% from the effluent but occurred at high concentrations (up to 824 microg kg(-1)) in the gravel bed. Accordingly, their elimination by sorption onto the organic matter retained is the predominant removal mechanism. Furthermore, the constructed wetland clogging appears to induce a negative effect in the PPCP degradation in the SSF evaluated. The PPCP elimination classified as efficiently and moderately removed through the shallow bed fitted to either zero- or a first-order areal kinetics. Finally, the apparent distribution coefficients between suspended solids (Kd'ss) or gravel bed (Kd'gb) and water were determined in the different sampling points of the wetland obtaining values comparable to the described previously for sewage sludge.