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Variation in human cognitive ability is of consequence to a large number of health and social outcomes and is substantially heritable. Genetic linkage, genome-wide association, and copy number variant studies have investigated the contribution of genetic variation to individual differences in normal cognitive ability, but little research has considered the role of rare genetic variants. Exome sequencing studies have already met with success in discovering novel trait-gene associations for other complex traits. Here, we use exome sequencing to investigate the effects of rare variants on general cognitive ability. Unrelated Scottish individuals were selected for high scores on a general component of intelligence (g). The frequency of rare genetic variants (in n = 146) was compared with those from Scottish controls (total n = 486) who scored in the lower to middle range of the g distribution or on a proxy measure of g. Biological pathway analysis highlighted enrichment of the mitochondrial inner membrane component and apical part of cell gene ontology terms. Global burden analysis showed a greater total number of rare variants carried by high g cases versus controls, which is inconsistent with a mutation load hypothesis whereby mutations negatively affect g. The general finding of greater non-synonymous (vs. synonymous) variant effects is in line with evolutionary hypotheses for g. Given that this first sequencing study of high g was small, promising results were found, suggesting that the study of rare variants in larger samples would be worthwhile.
We have been monitoring some well-known bright blazars with short LOFAR observations since February 2013 with fortnightly cadence using the full available bandwidth of the High Band Antennas (i.e., 48 MHz centred at 226 MHz). The sources were chosen to be bright at low frequencies and to exhibit strong GHz-frequency radio variability on timescales of weeks to years. None of the five objects selected have been monitored previously in the MHz band. Here we report some preliminary results on flux variability obtained so far with LOFAR. These observations are scientifically valuable in their own right and also act as a proof of principle for broader, higher-cadence monitoring of the extragalactic sky with LOFAR and possibly SKA.
In this paper we show that a wide variety of composite structures can be obtained from structuring with multiaxial fields. The properties of these composites are highly responsive to field structuring and so significant increases in a variety of properties can be obtained. These composites have application as high-strain actuators, strain and temperature sensors, chemical sensors, and as thermal interface materials. We discuss these issues and provide a general summary of the research we have done in this area.
Nilpenia rossi new genus new species, described here from the Ediacara Member (Rawnsley Quartzite, South Australia), provides evidence of a Precambrian macroscopic sessile sediment-dweller. Nilpenia, ranging up to 30 cm in diameter, consists of two zones, a complex central area surrounded by radiating, dichotomously branching structures that decrease in diameter from the center to the outer edges. Other elements of the Ediacara Biota are interpreted to have been mat-encrusters but Nilpenia uniquely grew within the upper millimeters of the actual sediment displacing sediment with growth. This sediment surface was rippled and cohesive and may well have included an endobenthic mat. The branching network on the upper surface of the organisms would have been in contact with the water. The phylogenetic relationships of the Ediacara biota are not well constrained and Nilpenia is no exception. However, the morphology and ecology of Nilpenia represent a novel growth strategy present in the Ediacaran and not common today.
Although circumscribed interests are pathognomonic with autism, much about these interests remains unknown. Using the Interests Scale (IS), this study compares interests between 76 neurotypical (NT) individuals and 109 individuals with high-functioning autism spectrum disorder (HF-ASD) matched groupwise on age, IQ, and gender ratio. Participants and their parents/caregivers completed diagnostic measures (the Autism Diagnostic Interview—Revised and the Autism Diagnostic Observation Schedule; HF-ASD only), cognitive tests (Wechsler IQ Scales), and questionnaires (the Repetitive Behavior Scale—Revised, the Behavior Rating Inventory of Executive Function, and the Social Responsiveness Scale), in addition to the IS. Consistent with previous research, HF-ASD and NT individuals did not differ in number of interest areas, but the types of interests and intensity of those interests differed considerably. Using only the IS intensity score, 81% of individuals were correctly classified (NT or HF-ASD) in a logistic regression analysis. Among individuals with HF-ASD, Interests Scale scores were significantly related to Autism Diagnostic Observation Schedule, Behavior Rating Inventory of Executive Function, Repetitive Behavior Scale—Revised, and Social Responsiveness Scale scores, but they were not related to Autism Diagnostic Interview—Revised scores, IQ, gender, age, or psychotropic medication use. The type and intensity, but not the number, of interests distinguish high-functioning individuals with ASD from NT individuals.