176 research outputs found

    Embracing noise to improve cross-batch prediction accuracy

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    10.1186/1752-0509-6-S2-S3BMC Systems Biology6SUPPL.2

    Utilization of geopolymer in wood wool insulation boards:Design optimization, development and performance characteristics

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    This study investigates the substitution of ordinary Portland cement (OPC) with geopolymer in the production of wood wool geopolymer boards (WWGB), offering insights into manufacturing methods, design parameters, and performance characteristics. The composite formulation involves fibre pre-treatment, adjustment of precursor components, and control of activator compositions. The optimized formulation results in a lightweight composite with a density of 392 kg m−3 and porosity of 76 %, meeting prescribed minimum compressive (20 kPa) and bending strength (1700 kPa) requirements. The inclusion of natural fibres influences the optimal Na2O concentration and modulus for strength, with treated fibres recommended for higher modulus applications and improved strengths. Furthermore, it exhibits low thermal conductivity at 77 mW m−1 K−1, minimal moisture sorption, and low vapour resistance, offering a sustainable alternative in the field of insulation materials.</p

    Skull base repair following endonasal pituitary and skull base tumour resection: a systematic review

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    Purpose Postoperative cerebrospinal fluid rhinorrhoea (CSFR) remains a frequent complication of endonasal approaches to pituitary and skull base tumours. Watertight skull base reconstruction is important in preventing CSFR. We sought to systematically review the current literature of available skull base repair techniques. Methods Pubmed and Embase databases were searched for studies (2000-2020) that (a) reported on the endonasal resection of pituitary and skull base tumours, (b) focussed on skull base repair techniques and/or postoperative CSFR risk factors, and (c) included CSFR data. Roles, advantages and disadvantages of each repair method were detailed. Random-effects meta-analyses were performed where possible. Results 193 studies were included. Repair methods were categorised based on function and anatomical level. There was absolute heterogeneity in repair methods used, with no independent studies sharing the same repair protocol. Techniques most commonly used for low CSFR risk cases were fat grafts, fascia lata grafts and synthetic grafts. For cases with higher CSFR risk, multilayer regimes were utilized with vascularized flaps, gasket sealing and lumbar drains. Lumbar drain use for high CSFR risk cases was supported by a randomised study (Oxford CEBM: Grade B recommendation), but otherwise there was limited high-level evidence. Pooled CSFR incidence by approach was 3.7% (CI 3-4.5%) for transsphenoidal, 9% (CI 7.2-11.3%) for expanded endonasal, and 5.3% (CI 3.4-7%) for studies describing both. Further meaningful meta-analyses of repair methods were not performed due to significant repair protocol heterogeneity. Conclusions Modern reconstructive protocols are heterogeneous and there is limited evidence to suggest the optimal repair technique after pituitary and skull base tumour resection. Further studies are needed to guide practice.Scientific Assessment and Innovation in Neurosurgical Treatment Strategie

    Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

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    We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 &times; 10-11 to 5.0 &times; 10-21). The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. The new and known genetic variants predict increased left ventricular mass, circulating levels of NT-proBNP, and cardiovascular and all-cause mortality (P = 0.04 to 8.6 &times; 10-6). Our results provide new evidence for the role of DNA methylation in blood pressure regulation

    Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

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    To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

    Detectable clonal mosaicism and its relationship to aging and cancer

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    In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases

    Nanophononics: state of the art and perspectives

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    Strategy of finding optimal number of features on gene expression data

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    Feature selection is considered to be an important step in the analysis of transcriptomes or gene expression data. Carrying out feature selection reduces the curse of the dimensionality problem and improves the interpretability of the problem. Numerous feature selection methods have been proposed in the literature and these methods rank the genes in order of their relative importance. However, most of these methods determine the number of genes to be used in an arbitrarily or heuristic fashion. Proposed is a theoretical way to determine the optimal number of genes to be selected for a given task. This proposed strategy has been applied on a number of gene expression datasets and promising results have been obtained

    Recognition of polyadenylation sites from Arabidopsis genomic sequences.

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    Genome informatics. International Conference on Genome Informatics1973-8
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