Behavioral, perceptual, and neural alterations in sensory and multisensory function in autism spectrum disorder.

Although sensory processing challenges have been noted since the first clinical descriptions of autism, it has taken until the release of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) in 2013 for sensory problems to be included as part of the core symptoms of autism spectrum disorder (ASD) in the diagnostic profile. Because sensory information forms the building blocks for higher-order social and cognitive functions, we argue that sensory processing is not only an additional piece of the puzzle, but rather a critical cornerstone for characterizing and understanding ASD. In this review we discuss what is currently known about sensory processing in ASD, how sensory function fits within contemporary models of ASD, and what is understood about the differences in the underlying neural processing of sensory and social communication observed between individuals with and without ASD. In addition to highlighting the sensory features associated with ASD, we also emphasize the importance of multisensory processing in building perceptual and cognitive representations, and how deficits in multisensory integration may also be a core characteristic of ASD

A Dual X-Ray Absorptiometry Validated Geometric Model for the Calculation of Body Segment Inertial Parameters of Young Females

The purpose of this study was to validate a new geometric solids model, developed to address the lack of female specific models for body segment inertial parameter estimation. A second aim was to determine the effect of reducing the number of geometric solids used to model the limb segments on model accuracy. The ‘full’ model comprised 56 geometric solids, the ‘reduced’ 31, and the ‘basic’ 16. Predicted whole-body inertial parameters were compared with direct measurements (reaction board, scales), and predicted segmental parameters with those estimated from whole-body DXA scans for 28 females. The percentage root mean square error (%RMSE) for whole-body volume was <2.5% for all models, and 1.9% for the full model. The %RMSE for whole-body center of mass location was <3.2% for all models. The %RMSE whole-body mass was <3.3% for the full model. The RMSE for segment masses was <0.5 kg (<0.5%) for all segments; Bland-Altman analysis showed the full and reduced models could adequately model thigh, forearm, foot and hand segments, but the full model was required for the trunk segment. The proposed model was able to accurately predict body segment inertial parameters for females, more geometric solids are required to more accurately model the trunk

Increased rates of large-magnitude explosive eruptions in Japan in the late Neogene and Quaternary

Tephra layers in marine sediment cores from scientific ocean drilling largely record high-magnitude silicic explosive eruptions in the Japan arc for up to the last 20 million years. Analysis of the thickness variation with distance of 180 tephra layers from a global dataset suggests that the majority of the visible tephra layers used in this study are the products of caldera-forming eruptions with magnitude (M) &gt;6, considering their distances at the respective drilling sites to their likely volcanic sources. Frequency of visible tephra layers in cores indicates a marked increase in rates of large magnitude explosive eruptions at ~8 Ma, 6–4 Ma and further increase after ~2 Ma. These changes are attributed to major changes in tectonic plate interactions. Lower rates of large magnitude explosive volcanism in the Miocene are related to a strike-slip dominated boundary (and temporary cessation or deceleration of subduction) between the Philippine Sea Plate and southwest Japan, combined with the possibility that much of the arc in northern Japan was submerged beneath sea level partly due to previous tectonic extension of Northern Honshu related to formation of the Sea of Japan. Changes in plate motions and subduction dynamics during the ~8 Ma to present period led to (1) increased arc-normal subduction in southwest Japan (and resumption of arc volcanism) and (2) shift from extension to compression of the upper plate in northeast Japan, leading to uplift, crustal thickening and favourable conditions for accumulation of the large volumes of silicic magma needed for explosive caldera-forming eruptions

Deficits in audiovisual speech perception in normal aging emerge at the level of whole-word recognition.

Over the next 2 decades, a dramatic shift in the demographics of society will take place, with a rapid growth in the population of older adults. One of the most common complaints with healthy aging is a decreased ability to successfully perceive speech, particularly in noisy environments. In such noisy environments, the presence of visual speech cues (i.e., lip movements) provide striking benefits for speech perception and comprehension, but previous research suggests that older adults gain less from such audiovisual integration than their younger peers. To determine at what processing level these behavioral differences arise in healthy-aging populations, we administered a speech-in-noise task to younger and older adults. We compared the perceptual benefits of having speech information available in both the auditory and visual modalities and examined both phoneme and whole-word recognition across varying levels of signal-to-noise ratio. For whole-word recognition, older adults relative to younger adults showed greater multisensory gains at intermediate SNRs but reduced benefit at low SNRs. By contrast, at the phoneme level both younger and older adults showed approximately equivalent increases in multisensory gain as signal-to-noise ratio decreased. Collectively, the results provide important insights into both the similarities and differences in how older and younger adults integrate auditory and visual speech cues in noisy environments and help explain some of the conflicting findings in previous studies of multisensory speech perception in healthy aging. These novel findings suggest that audiovisual processing is intact at more elementary levels of speech perception in healthy-aging populations and that deficits begin to emerge only at the more complex word-recognition level of speech signals

Effect of groundwater pH and ionic strength on strontium sorption in aquifer sediments: Implications for 90Sr mobility at contaminated nuclear sites

Abstract Strontium-90 is a beta emitting radionuclide produced during nuclear fission, and is a problem contaminant at many nuclear facilities. Transport of 90 Sr in groundwaters is primarily controlled by sorption reactions with aquifer sediments. The extent of sorption is controlled by the geochemistry of the groundwater and sediment mineralogy. Here, batch sorption experiments were used to examine the sorption behaviour of Sr in contaminated sediments will remain primarily in weakly bound surface complexes. Therefore, if groundwater ionic strength increases (e.g. by saline intrusion related to sea level rise or by design during site remediation) then substantial remobilisation of 90 Sr is to be expected

Frictional melt homogenisation during fault slip: Geochemical, textural and rheological fingerprints

info:eu-repo/semantics/publishe

Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits

Background Height and other anthropometric measures are consistently found to associate with differential cancer risk. However, both genetic and mechanistic insights into these epidemiological associations are notably lacking. Conversely, inherited genetic variants in tumour suppressors and oncogenes increase cancer risk, but little is known about their influence on anthropometric traits. Methods By integrating inherited and somatic cancer genetic data from the Genome-Wide Association Study Catalog, expression Quantitative Trait Loci databases and the Cancer Gene Census, we identify SNPs that associate with different cancer types and differential gene expression in at least one tissue type, and explore the potential pleiotropic associations of these SNPs with anthropometric traits through SNP-wise association in a cohort of 500,000 individuals. Results We identify three regulatory SNPs for three important cancer genes, FANCA, MAP3K1 and TP53 that associate with both anthropometric traits and cancer risk. Of particular interest, we identify a previously unrecognised strong association between the rs78378222[C] SNP in the 3' untranslated region (3'-UTR) of TP53 and both increased risk for developing non-melanomatous skin cancer (OR=1.36 (95% 1.31 to 1.41), adjusted p=7.62E−63), brain malignancy (OR=3.12 (2.22 to 4.37), adjusted p=1.43E−12) and increased standing height (adjusted p=2.18E−24, beta=0.073±0.007), lean body mass (adjusted p=8.34E−37, beta=0.073±0.005) and basal metabolic rate (adjusted p=1.13E−31, beta=0.076±0.006), thus offering a novel genetic link between these anthropometric traits and cancer risk. Conclusion Our results clearly demonstrate that heritable variants in key cancer genes can associate with both differential cancer risk and anthropometric traits in the general population, thereby lending support for a genetic basis for linking these human phenotypes

Gene Expression Patterns of Oxidative Phosphorylation Complex I Subunits Are Organized in Clusters

After the radiation of eukaryotes, the NUO operon, controlling the transcription of the NADH dehydrogenase complex of the oxidative phosphorylation system (OXPHOS complex I), was broken down and genes encoding this protein complex were dispersed across the nuclear genome. Seven genes, however, were retained in the genome of the mitochondrion, the ancient symbiote of eukaryotes. This division, in combination with the three-fold increase in subunit number from bacteria (N = ∼14) to man (N = 45), renders the transcription regulation of OXPHOS complex I a challenge. Recently bioinformatics analysis of the promoter regions of all OXPHOS genes in mammals supported patterns of co-regulation, suggesting that natural selection favored a mechanism facilitating the transcriptional regulatory control of genes encoding subunits of these large protein complexes. Here, using real time PCR of mitochondrial (mtDNA)- and nuclear DNA (nDNA)-encoded transcripts in a panel of 13 different human tissues, we show that the expression pattern of OXPHOS complex I genes is regulated in several clusters. Firstly, all mtDNA-encoded complex I subunits (N = 7) share a similar expression pattern, distinct from all tested nDNA-encoded subunits (N = 10). Secondly, two sub-clusters of nDNA-encoded transcripts with significantly different expression patterns were observed. Thirdly, the expression patterns of two nDNA-encoded genes, NDUFA4 and NDUFA5, notably diverged from the rest of the nDNA-encoded subunits, suggesting a certain degree of tissue specificity. Finally, the expression pattern of the mtDNA-encoded ND4L gene diverged from the rest of the tested mtDNA-encoded transcripts that are regulated by the same promoter, consistent with post-transcriptional regulation. These findings suggest, for the first time, that the regulation of complex I subunits expression in humans is complex rather than reflecting global co-regulation