A Phenomic Scan of the Norfolk Island Genetic Isolate Identifies a Major Pleiotropic Effect Locus Associated with Metabolic and Renal Disorder Markers

Multiphenotype genome-wide association studies (GWAS) may reveal pleiotropic genes, which would remain undetected using single phenotype analyses. Analysis of large pedigrees offers the added advantage of more accurately assessing trait heritability, which can help prioritise genetically influenced phenotypes for GWAS analysis. In this study we performed a principal component analysis (PCA), heritability (h2) estimation and pedigree-based GWAS of 37 cardiovascular disease -related phenotypes in 330 related individuals forming a large pedigree from the Norfolk Island genetic isolate. PCA revealed 13 components explaining >75% of the total variance. Nine components yielded statistically significant h2 values ranging from 0.22 to 0.54 (P<0.05). The most heritable component was loaded with 7 phenotypic measures reflecting metabolic and renal dysfunction. A GWAS of this composite phenotype revealed statistically significant associations for 3 adjacent SNPs on chromosome 1p22.2 (P<1x10-8). These SNPs form a 42kb haplotype block and explain 11% of the genetic variance for this renal function phenotype. Replication analysis of the tagging SNP (rs1396315) in an independent US cohort supports the association (P = 0.000011). Blood transcript analysis showed 35 genes were associated with rs1396315 (P<0.05). Gene set enrichment analysis of these genes revealed the most enriched pathway was purine metabolism (P = 0.0015). Overall, our findings provide convincing evidence for a major pleiotropic effect locus on chromosome 1p22.2 influencing risk of renal dysfunction via purine metabolism pathways in the Norfolk Island population. Further studies are now warranted to interrogate the functional relevance of this locus in terms of renal pathology and cardiovascular disease risk.

Vapaata mielenjuoksua : Suomenkielisen freestyle-rapin ilmenemismuodot, estetiikka ja kompositio

The thesis is about Finnish freestyle-rap, a modern form of oral poetry producing improvised rap lyrics at the moment of performance. The research material consists of interviews with seven freestyle experts and a DVD from Finnish Rap Championships 2005 containing freestyle-rap. The thesis has three goals: describing the different variations or subgenres of freestyle, outlining the esthetics and register of freestyle, and examining the composition of freestyle. The research material acts a central role in the thesis but the theoretical framework is also wide: cornerstones are John Miles Foley's register analysis, oral formulaic theory and William Levelt's psycholinguistic theory on planning of speech. Freestyle is divided into three partially overlapping genres with slight variation in conventions. The genres are freestyle battle, cypher, and live freestyle. Freestyle's esthetics are composed of certain qualities and preferences: the rhyme is a syllabically repeating vocal rhyme. The rapping must be synchronised with the background rhythm and the rhyme comes in the end of the line. The lyrics must be somehow anchored to the surroundings and the moment of performance. The style of rapping, ie. flow, has to be personal one way or the other. Individual formulas are used to some extent in freestyle compostition. When planning the lines, all other content is subordinate to the rhyme, whose phonetic processing is the primary act in the planning of freestyle. This discovery sets Levelt's theory open to doubt.

Suppression of populations of Australian sheep blowfly, Lucilia cuprina (Wiedemann) (Diptera: Calliphoridae), with a novel blowfly trap

The Australian sheep blowfly, Lucilia cuprina initiates more than 85% of fly strikes on sheep in Australia with an estimated average annual cost of A$280 million to the Australian wool industry. LuciTrap® is a commercially available, selective trap for L. cuprina consisting of a plastic bucket with multiple fly entry cones and a synthetic attractant. The impact of LuciTrap on populations of L. cuprina on sheep properties in five Australian states was evaluated by comparing L. cuprina populations on paired properties with and without LuciTraps over seasons when significant fly populations could be expected. Twenty-four comparisons (trials) were conducted over four years. During times of ‘higher fly density’ (when the 48 h geometric mean of trap catches on the control property was greater than five L. cuprina), the overall geometric mean trap catches for control and trapped properties differed significantly (P<0.001) with mean trap catches of 19.4 and 7.74 L. cuprina respectively. The selectivity of the LuciTrap was confirmed with 59% of all trapped flies being L. cuprina. Chrysomya spp. and Calliphora spp. constituted 9.3% and 1.1% of the catches with a variety of other flies (mainly Sarcophagidae and Muscidae) providing the remainder (31%). L. sericata was only trapped in Tasmania and made up 7.7% of the Lucilia spp. catch in this State. Seventy-two percent of the trapped L. cuprina were female. The deployment of LuciTrap on sheep properties at one trap per 100 sheep from the beginning of the anticipated fly season suppressed the populations of L. cuprina by 60% compared to matched control properties. The LuciTrap is a selective and easy to use fly trap and constitutes an effective, non-insecticidal tool for use in integrated management programs for L. cuprina.

Konstruktiivisen linjakkuuden perusteita etsimässä : Systemaattinen analyysi John Biggsin esittämistä yliopisto-opetuksen lähtökohdista

The aim of this study is to explore by systematic textual analysis the crucial conceptions of constructive alignment and to reconstruct the concept of constructive alignment and examine the relation between conceptual relationships in John Biggs’s texts. In this study, I have also analyzed the presuppositions of the concept of constructive alignment and its possible implications. The research material includes Biggs’s (1996b; 2003) article entitled Enhancing Teaching through Constructive Alignment and book entitled Teaching for Quality Learning at University. The primary purpose of the systematic textual analysis is to reconstruct concepts and gain access to a new or more profound understanding of the concepts. The main purpose of the constructive alignment is to design a teaching system that supports and encourages students to adopt a deep approach learning. At the center of the constructive alignment are two concepts: constructivism in learning and alignment in teaching. A tension was detected between these concepts. Biggs assumes that students’ learning activities are primed by the teaching. Because of this it is not important what the teacher does. At the same time he emphasizes that teaching interacts with learning. The teacher’s task is to support student’s appropriate learning activities. On the basis of the analysis, I conclude these conceptions are not mutually exclusive. Interaction between teaching and learning has an effect on student’s learning activities. The most essential benefit of the model of constructive alignment is that Biggs brings together and considers teaching at the same level with learning. A weakness of Biggs’s model relates to the theoretical basis and positions of the concept of constructive alignment. There are some conflicts between conceptions of epistemology in Biggs’s texts. In addition, Biggs writes about constructivism also as conceptions of epistemology, but doesn’t consider implications of that position or what follows or doesn’t follow from that commitment. On the basis of the analysis, I suggest that constructivism refers in Biggs’s texts rather to constructivism in learning than philosophical constructivism. In light of this study, constructive alignment doesn´t lead to philosophical constructivism. That’s why constructive alignment stays out of idealism. Biggs’s way of thinking about teachers possibility to confronting students’ misconceptions and evaluate and assess students’ constructions support a realist purpose in terms of philosophical stance. Realism does not drift toward general problems of relativism, like lack of criteria for assessing or evaluate these constructions.

#20 [updated] Community wide interventions for increasing physical activity - Clinical Version

People who are physically active have higher levels of health related fitness, and a lower risk profile for developing a number of disabling medical conditions and chronic diseases. However, despite considerable evidence of the benefits of regular physical activity, global levels of physical inactivity remain stubbornly high. In response, governments are looking to find ways to increase the physical activity of their populations.

John and Ursula Schlosstein nee Gottschalk with their infant son Ralph. portraits family

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A genome-wide association study of sleep habits and insomnia

Several aspects of sleep behavior such as timing, duration and quality have been demonstrated to be heritable. To identify common variants that influence sleep traits in the population, we conducted a genome-wide association study of six sleep phenotypes assessed by questionnaire in a sample of 2,323 individuals from the Australian Twin Registry. Genotyping was performed on the Illumina 317, 370, and 610K arrays and the SNPs in common between platforms were used to impute non-genotyped SNPs. We tested for association with more than 2,000,000 common polymorphisms across the genome. While no SNPs reached the genome-wide significance threshold, we identified a number of associations in plausible candidate genes. Most notably, a group of SNPs in the third intron of the CACNA1C gene ranked as most significant in the analysis of sleep latency (P = 1.3 x 10(-)(6)). We attempted to replicate this association in an independent sample from the Chronogen Consortium (n = 2,034), but found no evidence of association (P = 0.73). We have identified several other suggestive associations that await replication in an independent sample. We did not replicate the results from previous genome-wide analyses of self-reported sleep phenotypes after correction for multiple testing.

John Ettinger Collection 1941-1946

John Ettinger, 1987.

John and Ursula Schlosstein nee Gottschalk with their infant son Ralph. portraits family

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The conservation status of the world’s reptiles

Effective and targeted conservation action requires detailed information about species, their distribution, systematics and ecology as well as the distribution of threat processes which affect them. Knowledge of reptilian diversity remains surprisingly disparate, and innovative means of gaining rapid insight into the status of reptiles are needed in order to highlight urgent conservation cases and inform environmental policy with appropriate biodiversity information in a timely manner. We present the first ever global analysis of extinction risk in reptiles, based on a random representative sample of 1500 species (16% of all currently known species). To our knowledge, our results provide the first analysis of the global conservation status and distribution patterns of reptiles and the threats affecting them, highlighting conservation priorities and knowledge gaps which need to be addressed urgently to ensure the continued survival of the world’s reptiles. Nearly one in five reptilian species are threatened with extinction, with another one in five species classed as Data Deficient. The proportion of threatened reptile species is highest in freshwater environments, tropical regions and on oceanic islands, while data deficiency was highest in tropical areas, such as Central Africa and Southeast Asia, and among fossorial reptiles. Our results emphasise the need for research attention to be focussed on tropical areas which are experiencing the most dramatic rates of habitat loss, on fossorial reptiles for which there is a chronic lack of data, and on certain taxa such as snakes for which extinction risk may currently be underestimated due to lack of population information. Conservation actions specifically need to mitigate the effects of human-induced habitat loss and harvesting, which are the predominant threats to reptiles.

International contact lens prescribing in 2014

Since the late 1990s, the International Contact Lens Prescribing Survey Consortium has prospectively gathered information about 285,000 contact lens fits from more than 50 countries. This article presents our 14th annual summary of current trends published in Contact Lens Spectrum. With only minor differences in the distribution of our surveys among markets, we have continued to adopt the same approach throughout the past 18 years. Through national coordinators, we approach contact lens prescribers in each country and ask them to record information about the first 10 patients whom they fit with contact lenses after receipt of our survey form. The information collected is generic, and respondents are weighted to reflect the volume of contact lens fits undertaken by each. For this 2014 report, we present information about 25,179 contact lens fits from 32 countries...

International contact lens prescribing in 2015

We have been collecting data on worldwide contact lens prescribing habits for almost 20 years. Over this time period, we have amassed prospective information about 315,000 contact lens fits in 59 countries. This article marks our 15th report in Contact Lens Spectrum and features a breakdown of more than 23,000 contact lens fits in 34 markets. As in previous years, our international network of coordinators distributed survey forms to eyecare practitioners in their market who then recorded generic information about the first 10 patients fit with contact lenses after receipt. Information is gathered about patient age and gender; whether the contact lenses are prescribed as a new fit or a refit; contact lens material, design, and replacement frequency; number of intended days per week of use; wearing modality; and care system. Contact lens fits are weighted to reflect the number of fits undertaken by each eyecare practitioner. The study data were entered and processed at the University of Manchester and at the University of Waterloo.

Cochrane review: Whole-body cryotherapy (extreme cold air exposure) for preventing and treating muscle soreness after exercise in adults

Delayed-onset muscle soreness, or ‘DOMS’, affects many people after exercise and can impair future performance. It usually peaks one to four days after exercise and several strategies are used to overcome it. The effectiveness and safety of many of these strategies applied and promoted is unknown.