84 research outputs found

    CuSiO_3 : a quasi - one - dimensional S=1/2 antiferromagnetic chain system

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    CuSiO_3, isotypic to the spin - Peierls compound CuGeO_3, was discovered recently as a metastable decomposition product of the silicate mineral dioptase, Cu_6Si_6O_{18}\cdot6H_2O. We investigated the physical properties of CuSiO_3 using susceptibility, magnetization and specific heat measurements on powder samples. The magnetic susceptibility \chi(T) is reproduced very well above T = 8 K by theoretical calculations for an S=1/2 antiferromagnetic Heisenberg linear chain without frustration (\alpha = 0) and a nearest - neighbor exchange coupling constant of J/k_{B} = 21 K, much weaker than in CuGeO_3. Below 8 K the susceptibility exhibits a substantial drop. This feature is identified as a second - order phase transition at T_{0} = 7.9 K by specific heat measurements. The influence of magnetic fields on T_{0} is weak, and ac - magnetization measurements give strong evidence for a spin - flop - phase at \mu_0H_{SF} ~ 3 T. The origin of the magnetic phase transition at T_{0} = 7.9 K is discussed in the context of long - range antiferromagnetic order (AF) versus spin - Peierls(SP)order. Susceptibility and specific heat results support the AF ordered ground state. Additional temperature dependent ^{63,65}Cu nuclear quadrupole resonance experiments have been carried out to probe the Cu^{2+} electronic state and the spin dynamics in CuSiO_3

    Modeling the material resistance of wood—part 2:Validation and optimization of the meyer-veltrup model

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    Service life planning with timber requires reliable models for quantifying the effects of exposure-related parameters and the material-inherent resistance of wood against biotic agents. The Meyer-Veltrup model was the first attempt to account for inherent protective properties and the wetting ability of wood to quantify resistance of wood in a quantitative manner. Based on test data on brown, white, and soft rot as well as moisture dynamics, the decay rates of different untreated wood species were predicted relative to the reference species of Norway spruce (Picea abies). The present study aimed to validate and optimize the resistance model for a wider range of wood species including very durable species, thermally and chemically modified wood, and preservative treated wood. The general model structure was shown to also be suitable for highly durable materials, but previously defined maximum thresholds had to be adjusted (i.e., maximum values of factors accounting for wetting ability and inherent protective properties) to 18 instead of 5 compared to Norway spruce. As expected, both the enlarged span in durability and the use of numerous and partly very divergent data sources (i.e., test methods, test locations, and types of data presentation) led to a decrease in the predictive power of the model compared to the original. In addition to the need to enlarge the database quantity and improve its quality, in particular for treated wood, it might be advantageous to use separate models for untreated and treated wood as long as the effect of additional impact variables (e.g., treatment quality) can be accounted for. Nevertheless, the adapted Meyer-Veltrup model will serve as an instrument to quantify material resistance for a wide range of wood-based materials as an input for comprehensive service life prediction software

    Genetics of intellectual disability in consanguineous families

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    Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

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    Background: Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number of ongoing therapeutic trials aiming to treat this form of FTD by increasing PGRN levels in mutation carriers. However, we currently lack a complete understanding of factors that affect PGRN levels and potential variation in measurement methods. Here, we aimed to address this gap in knowledge by systematically reviewing published literature on biofluid PGRN concentrations. Methods: Published data including biofluid PGRN concentration, age, sex, diagnosis and GRN mutation were collected for 7071 individuals from 75 publications. The majority of analyses (72%) had focused on plasma PGRN concentrations, with many of these (56%) measured with a single assay type (Adipogen) and so the influence of mutation type, age at onset, sex, and diagnosis were investigated in this subset of the data. Results: We established a plasma PGRN concentration cut-off between pathogenic mutation carriers and non-carriers of 74.8 ng/mL using the Adipogen assay based on 3301 individuals, with a CSF concentration cut-off of 3.43 ng/mL. Plasma PGRN concentration varied by GRN mutation type as well as by clinical diagnosis in those without a GRN mutation. Plasma PGRN concentration was significantly higher in women than men in GRN mutation carriers (p = 0.007) with a trend in non-carriers (p = 0.062), and there was a significant but weak positive correlation with age in both GRN mutation carriers and non-carriers. No significant association was seen with weight or with TMEM106B rs1990622 genotype. However, higher plasma PGRN levels were seen in those with the GRN rs5848 CC genotype in both GRN mutation carriers and non-carriers. Conclusions: These results further support the usefulness of PGRN concentration for the identification of the large majority of pathogenic mutations in the GRN gene. Furthermore, these results highlight the importance of considering additional factors, such as mutation type, sex and age when interpreting PGRN concentrations. This will be particularly important as we enter the era of trials for progranulin-associated FTD.</p

    TRY plant trait database – enhanced coverage and open access

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    Plant traits—the morphological, anatomical, physiological, biochemical and phenological characteristics of plants—determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits—almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

    Large expert-curated database for benchmarking document similarity detection in biomedical literature search

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    Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

    Colorectal liver metastases: Surgery versus thermal ablation (COLLISION) - a phase III single-blind prospective randomized controlled trial

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    Background: Radiofrequency ablation (RFA) and microwave ablation (MWA) are widely accepted techniques to eliminate small unresectable colorectal liver metastases (CRLM). Although previous studies labelled thermal ablation inferior to surgical resection, the apparent selection bias when comparing patients with unresectable disease to surgical candidates, the superior safety profile, and the competitive overall survival results for the more recent reports mandate the setup of a randomized controlled trial. The objective of the COLLISION trial is to prove non-inferiority of thermal ablation compared to hepatic resection in patients with at least one resectable and ablatable CRLM and no extrahepatic disease. Methods: In this two-arm, single-blind multi-center phase-III clinical trial, six hundred and eighteen patients with at least one CRLM (≤3cm) will be included to undergo either surgical resection or thermal ablation of appointed target lesion(s) (≤3cm). Primary endpoint is OS (overall survival, intention-to-treat analysis). Main secondary endpoints are overall disease-free survival (DFS), time to progression (TTP), time to local progression (TTLP), primary and assisted technique efficacy (PTE, ATE), procedural morbidity and mortality, length of hospital stay, assessment of pain and quality of life (QoL), cost-effectiveness ratio (ICER) and quality-adjusted life years (QALY). Discussion: If thermal ablation proves to be non-inferior in treating lesions ≤3cm, a switch in treatment-method may lead to a reduction of the post-procedural morbidity and mortality, length of hospital stay and incremental costs without compromising oncological outcome for patients with CRLM. Trial registration:NCT03088150 , January 11th 2017

    Cs2Pt[CN]4[H2O]

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    Distribution and Growth of Bacteria in Butter

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    Far-infrared reflectivity and dynamical conductivity of YBa2Cu3O7

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    For a sintered YBa2Cu3O7 sample that shows high far-infrared reflectivity we determined, by a Kramers-Kronig analysis, the dynamical conductivity and extracted contributions by free charge carriers and phonons. The low temperature conductivity, and also results of a tunnel experiment, can be described by a distribution of energy gaps around 2Δ/kTc reverse similar, equals 4.6. Furthermore we present evidence for superconducting fluctuations and we show that the lowest-frequency infrared-active phonon mode is less damped in the superconducting state than in the normal state
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