Diversification of the Caenorhabditis heat shock response by Helitron transposable elements.

Heat Shock Factor 1 (HSF-1) is a key regulator of the heat shock response (HSR). Upon heat shock, HSF-1 binds well-conserved motifs, called Heat Shock Elements (HSEs), and drives expression of genes important for cellular protection during this stress. Remarkably, we found that substantial numbers of HSEs in multiple Caenorhabditis species reside within Helitrons, a type of DNA transposon. Consistent with Helitron-embedded HSEs being functional, upon heat shock they display increased HSF-1 and RNA polymerase II occupancy and up-regulation of nearby genes in C. elegans. Interestingly, we found that different genes appear to be incorporated into the HSR by species-specific Helitron insertions in C. elegans and C. briggsae and by strain-specific insertions among different wild isolates of C. elegans. Our studies uncover previously unidentified targets of HSF-1 and show that Helitron insertions are responsible for rewiring and diversifying the Caenorhabditis HSR

Older People, Sense of Coherence and Community

Population ageing is a global trend and even though years added to life often are lived in good health; it will have an impact on healthcare, housing and facilities, and social security costs. Healthy ageing in place, especially in one’s own home and community, increasingly receives attention from health professionals, researchers, and policymakers. In this chapter, we first discuss the meaning of the concept of healthy ageing, and how Sense of Coherence contributes to this process. Next, we discuss the characteristics of the community in which older people live their lives and how the community can provide resources (GRR and SRR) to strengthen Sense of Coherence and hence perceived well-being and quality of life

Stretching the spines of gymnasts: a review

Gymnastics is noted for involving highly specialized strength, power, agility and flexibility. Flexibility is perhaps the single greatest discriminator of gymnastics from other sports. The extreme ranges of motion achieved by gymnasts require long periods of training, often occupying more than a decade. Gymnasts also start training at an early age (particularly female gymnasts), and the effect of gymnastics training on these young athletes is poorly understood. One of the concerns of many gymnastics professionals is the training of the spine in hyperextension-the ubiquitous 'arch' seen in many gymnastics positions and movements. Training in spine hyperextension usually begins in early childhood through performance of a skill known as a back-bend. Does practising a back-bend and other hyperextension exercises harm young gymnasts? Current information on spine stretching among gymnasts indicates that, within reason, spine stretching does not appear to be an unusual threat to gymnasts' health. However, the paucity of information demands that further study be undertaken

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases. We report de novo assemblies of 150 individuals (50 trios) from the GenomeDenmark project. The quality of these assemblies is similar to those obtained using the more expensive long-read technology. We use the assemblies to identify a rich set of structural variants including many novel insertions and demonstrate how this variant catalogue enables further deciphering of known association mapping signals. We leverage the assemblies to provide 100 completely resolved major histocompatibility complex haplotypes and to resolve major parts of the Y chromosome. Our study provides a regional reference genome that we expect will improve the power of future association mapping studies and hence pave the way for precision medicine initiatives, which now are being launched in many countries including Denmark

The feasibility of measuring the activation of the trunk muscles in healthy older adults during trunk stability exercises

<p>Abstract</p> <p>Background</p> <p>As the older adult population increases, the potential functional and clinical burden of trunk muscle dysfunction may be significant. An evaluation of risk factors including the impact of the trunk muscles in terms of their temporal firing patterns, amplitudes of activation, and contribution to spinal stability is required. Therefore, the specific purpose of this study was to assess the feasibility of measuring the activation of trunk muscles in healthy older adults during specific leg exercises with trunk stabilization.</p> <p>Methods</p> <p>12 asymptomatic adults 65 to 75 years of age were included in the study. Participants performed a series of trunk stability exercises, while bilateral activation of abdominal and back extensor muscles was recorded by 24 pairs of Meditrace™ surface electrodes. Maximal voluntary isometric contractions (MVIC) were performed for electromyographic (EMG) normalization purposes. EMG waveforms were generated and amplitude measures as a percentage of MVIC were calculated along with ensemble average profiles. 3D kinematics data were also recorded, using an electromagnetic sensor placed at the left lateral iliac crest. Furthermore, a qualitative assessment was conducted to establish the participant's ability to complete all experimental tasks.</p> <p>Results</p> <p>Excellent quality abdominal muscle activation data were recorded during the tasks. Participants performed the trunk stability exercises with an unsteady, intermittent motion, but were able to keep pelvic motion to less than 10°. The EMG amplitudes showed that during these exercises, on average, the older adults recruited their abdominal muscles from 15–34% of MVIC and back extensors to less than 10% of MVIC. There were similarities among the abdominal muscle profiles. No participants reported pain during the testing session, although 3 (25%) of the participants reported delayed onset muscle soreness during follow up that was not functionally limiting.</p> <p>Conclusion</p> <p>Older adults were able to successfully complete the trunk stability protocol that was developed for younger adults with some minor modifications. The collected EMG amplitudes were higher than those reported in the literature for young healthy adults. The temporal waveforms for the abdominal muscles showed a degree of synchrony among muscles, except for the early activation from the internal oblique prior to lifting the leg off the table.</p

An international study piloting the measuring teacher enacted computing curriculum (METRECC) instrument

As the discipline of K-12 computer science (CS) education evolves, international comparisons of curriculum and teaching provide valuable information for policymakers and educators. Previous academic analyses of K-12 CS intended and enacted curriculum has been conducted via curriculum analyses, country reports, experience reports, and case studies, with K-12 CS comparisons distinctly lacking teacher input. This report presents the process of an international Working Group to develop, pilot, review and test validity and reliability of the MEasuring TeacheR Enacted Computing Curriculum (METRECC) instrument to survey teachers in K-12 schools about their implementation of CS curriculum to understand pedagogy, practice, resources and experiences in classrooms around the world. The Working Group reviewed and analysed pilot data from 244 teachers across seven countries (Australia, England, Ireland, Italy, Malta, Scotland and the United States). We analysed the pilot results (n=244) and applied four validity tests: face validity, concurrent validity, population validity, sampling validity and construct validity, in addition to a focus group to further revised the instrument. This report presents the pilot results and outcomes of validity testing, as well as revisions made to the instrument. The resulting METRECC tool combines a country report template and a teacher survey that will provide K-12 teachers with a means to communicate their experience enacting CS curriculum. National and regional policymakers can use METRECC data to inform iterative curriculum revision and implementation. We provide open access to the METRECC instrument and data set

Decision Forest Analysis of 61 Single Nucleotide Polymorphisms in a Case-Control Study of Esophageal Cancer; a novel method

BACKGROUND: Systematic evaluation and study of single nucleotide polymorphisms (SNPs) made possible by high throughput genotyping technologies and bioinformatics promises to provide breakthroughs in the understanding of complex diseases. Understanding how the millions of SNPs in the human genome are involved in conferring susceptibility or resistance to disease, or in rendering a drug efficacious or toxic in the individual is a major goal of the relatively new fields of pharmacogenomics. Esophageal squamous cell carcinoma is a high-mortality cancer with complex etiology and progression involving both genetic and environmental factors. We examined the association between esophageal cancer risk and patterns of 61 SNPs in a case-control study for a population from Shanxi Province in North Central China that has among the highest rates of esophageal squamous cell carcinoma in the world. METHODS: High-throughput Masscode mass spectrometry genotyping was done on genomic DNA from 574 individuals (394 cases and 180 age-frequency matched controls). SNPs were chosen from among genes involving DNA repair enzymes, and Phase I and Phase II enzymes. We developed a novel adaptation of the Decision Forest pattern recognition method named Decision Forest for SNPs (DF-SNPs). The method was designated to analyze the SNP data. RESULTS: The classifier in separating the cases from the controls developed with DF-SNPs gave concordance, sensitivity and specificity, of 94.7%, 99.0% and 85.1%, respectively; suggesting its usefulness for hypothesizing what SNPs or combinations of SNPs could be involved in susceptibility to esophageal cancer. Importantly, the DF-SNPs algorithm incorporated a randomization test for assessing the relevance (or importance) of individual SNPs, SNP types (Homozygous common, heterozygous and homozygous variant) and patterns of SNP types (SNP patterns) that differentiate cases from controls. For example, we found that the different genotypes of SNP GADD45B E1122 are all associated with cancer risk. CONCLUSION: The DF-SNPs method can be used to differentiate esophageal squamous cell carcinoma cases from controls based on individual SNPs, SNP types and SNP patterns. The method could be useful to identify potential biomarkers from the SNP data and complement existing methods for genotype analyses