Geochemistry of cumulates from the Bjerkreim-Sokndal layered intrusion (S. Norway). Part II. REE and the trapped liquid fraction

Rare earth elements in bulk cumulates and in separated minerals (plagioclase, apatite, Ca-poor and Ca-rich pyroxenes, ilmenite and magnetite) from the Bjerkreim-Sokndal layered intrusion (Rogaland Anorthosite Province, SW Norway) are investigated to better define the proportion of trapped liquid and its influence on bulk cumulate composition. In leuconoritic rocks (made up of plagioclase, Ca-poor pyroxene, ilmenite, magnetite, olivine), where apatite is an intercumulus phase, even a small fraction of trapped liquid significantly affects the REE pattern of the bulk cumulate, together with cumulus minerals proportion and composition. Contrastingly, in gabbronoritic cumulates characterized by the presence of cumulus Ca-rich pyroxene and apatite, cumulus apatite buffers the REE content. La/Sm and Eu/Eu* VS. P2O2 variations in leuconorites display mixing trends between a pure adcumulate and the composition of the trapped liquid, assumed to be similar to the parental magma. Assessment of the trapped liquid fraction in leuconorites ranges from 2 to 25% and is systematically higher in the north-eastern part of the intrusion. The likely reason for this wide range of TLF is different cooling rates in different parts of the intrusion depending on the distance to the gneissic margins. The REE patterns of liquids in equilibrium with primitive cumulates are calculated with mass balance equations. Major elements modelling (Duchesne, J.C., Charlier, B., 2005. Geochemistry of cumulates from the Bjerkreiin-Sokndal layered intrusion (S. Norway): Part I. Constraints from major elements on the mechanism of cumulate formation and on the jotunite liquid line of descent. Lithos. 83, 299-254) permits calculation of the REE content of melt in equilibrium with gabbronorites. Partition coefficients for REE between cumulus minerals and a jotunitic liquid are then calculated. Calculated liquids from the most primitive cumulates are similar to a primitive jotunite representing the parental magma of the intrusion, taking into account the trapped liquid fraction calculated from the P2O5 content. Consistent results demonstrate the reliability of liquid compositions calculated from bulk cumulates and confirm the hypothesis that the trapped liquid has crystallized as a closed-system without subsequent mobility of REE in a migrating interstitial liquid. (c) 2005 Elsevier B.V. All rights reserved

La résilience chez les adultes ayant une surdité acquise : une étude exploratoire = Resilience in adults with acquired deafness: an exploratory study

Hearing loss is an invisible condition that affects communication and social interaction. For many individuals, sudden or gradual loss of their hearing, either partial or total, constitutes a dramatic event that demands specific adjustments. Although a few studies have explored personal variables associated with the adaptation process in the presence of a hearing loss, to our knowledge, no study has explored resilience in adults with acquired deafness. Our main purpose was to gain a better understanding of resilience in the context of a postlingual hearing loss. We measured resilience in 35 adults with acquired deafness using the Connor-Davidson Resilience Scale (CD-RISC). Participants, aged 20 to 84 years, filled out the CD-RISC and a sociodemographic questionnaire electronically via a secure website. We gathered information on the degree of hearing loss, hearing device use, education, and living arrangements. We then examined potential predictors of resilience score, using a regression model. Degree of hearing loss and living arrangements were both associated with resilience. Our results suggest that resilience is an evolutionary process influenced by external factors. On a clinical level, our results reinforce the importance of personal and environmental factors in adults with acquired deafness and the importance of taking resilience capacities into account. © 2017, Canadian Association of Speech-Language Pathologists and Audiologists. All rights reserved

Spontaneous recovery in phacolytic glaucoma

We report a case of phacolytic glaucoma in which spontaneous absorption of the hypermature lens allowed a patient who refused surgery to recover a normal pressure and satisfactory visual acuity

Reactivity tests for supplementary cementitious materials: RILEM TC 267-TRM phase 1

A primary aim of RILEM TC 267-TRM: “Tests for Reactivity of Supplementary Cementitious Materials (SCMs)” is to compare and evaluate the performance of conventional and novel SCM reactivity test methods across a wide range of SCMs. To this purpose, a round robin campaign was organized to investigate 10 different tests for reactivity and 11 SCMs covering the main classes of materials in use, such as granulated blast furnace slag, fly ash, natural pozzolan and calcined clays. The methods were evaluated based on the correlation to the 28 days relative compressive strength of standard mortar bars containing 30% of SCM as cement replacement and the interlaboratory reproducibility of the test results. It was found that only a few test methods showed acceptable correlation to the 28 days relative strength over the whole range of SCMs. The methods that showed the best reproducibility and gave good correlations used the R3 model system of the SCM and Ca(OH)2, supplemented with alkali sulfate/carbonate. The use of this simplified model system isolates the reaction of the SCM and the reactivity can be easily quantified from the heat release or bound water content. Later age (90 days) strength results also correlated well with the results of the IS 1727 (Indian standard) reactivity test, an accelerated strength test using an SCM/Ca(OH)2-based model system. The current standardized tests did not show acceptable correlations across all SCMs, although they performed better when latently hydraulic materials (blast furnace slag) were excluded. However, the Frattini test, Chapelle and modified Chapelle test showed poor interlaboratory reproducibility, demonstrating experimental difficulties. The TC 267-TRM will pursue the development of test protocols based on the R3 model systems. Acceleration and improvement of the reproducibility of the IS 1727 test will be attempted as well

Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder

Individual response to stress is correlated with neuroticism and is an important predictor of both neuroticism and the onset of major depressive disorder (MDD). Identification of the genetics underpinning individual differences in response to negative events (stress-sensitivity) may improve our understanding of the molecular pathways involved, and its association with stress-related illnesses. We sought to generate a proxy for stress-sensitivity through modelling the interaction between SNP allele and MDD status on neuroticism score in order to identify genetic variants that contribute to the higher neuroticism seen in individuals with a lifetime diagnosis of depression compared to unaffected individuals. Meta-analysis of genome-wide interaction studies (GWIS) in UK Biobank (N = 23,092) and Generation Scotland: Scottish Family Health Study (N = 7,155) identified no genome-wide significance SNP interactions. However, gene-based tests identified a genome-wide significant gene, ZNF366, a negative regulator of glucocorticoid receptor function implicated in alcohol dependence (p = 1.48x10-7; Bonferroni-corrected significance threshold p < 2.79x10-6). Using summary statistics from the stress-sensitivity term of the GWIS, SNP heritability for stress-sensitivity was estimated at 5.0%. In models fitting polygenic risk scores of both MDD and neuroticism derived from independent GWAS, we show that polygenic risk scores derived from the UK Biobank stress-sensitivity GWIS significantly improved the prediction of MDD in Generation Scotland. This study may improve interpretation of larger genome-wide association studies of MDD and other stress-related illnesses, and the understanding of the etiological mechanisms underpinning stress-sensitivity

Hair Cortisol in Twins : Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes

A. Palotie on työryhmän jäsen.Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i.e. polygenic risk scores (PRS). HCC was measured in 671 adolescents and young adults. These included 115 monozygotic and 183 dizygotic twin-pairs. For 432 subjects PRS scores for plasma cortisol, major depression, and neuroticism were calculated using data from large genome wide association studies. The twin model revealed a heritability for HCC of 72%. No significant phenotypic or genetic correlation was found between HCC and the three psychological variables of interest. PRS did not explain variance in HCC. The present data suggest that HCC is highly heritable. However, the data do not support a strong biological link between HCC and any of the investigated psychological variables.Peer reviewe

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD