57 research outputs found

    Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study

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    A41 Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study In: Addiction Science & Clinical Practice 2017, 12(Suppl 1): A4

    High precision charge division

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    Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

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    BackgroundGenomic imprinting is allelic restriction of gene expression potential depending on parent of origin, maintained by epigenetic mechanisms including parent of origin-specific DNA methylation. Among approximately 70 known imprinted genes are some causing disorders affecting growth, metabolism and cancer predisposition. Some imprinting disorder patients have hypomethylation of several imprinted loci (HIL) throughout the genome and may have atypically severe clinical features. Here we used array analysis in HIL patients to define patterns of aberrant methylation throughout the genome.DesignWe developed a novel informatic pipeline capable of small sample number analysis, and profiled 10 HIL patients with two clinical presentations (Beckwith–Wiedemann syndrome and neonatal diabetes) using the Illumina Infinium Human Methylation450 BeadChip array to identify candidate imprinted regions. We used robust statistical criteria to quantify DNA methylation.ResultsWe detected hypomethylation at known imprinted loci, and 25 further candidate imprinted regions (nine shared between patient groups) including one in the Down syndrome critical region (WRB) and another previously associated with bipolar disorder (PPIEL). Targeted analysis of three candidate regions (NHP2L1, WRB and PPIEL) showed allelic expression, methylation patterns consistent with allelic maternal methylation and frequent hypomethylation among an additional cohort of HIL patients, including six with Silver–Russell syndrome presentations and one with pseudohypoparathyroidism 1B.ConclusionsThis study identified novel candidate imprinted genes, revealed remarkable epigenetic convergence among clinically divergent patients, and highlights the potential of epigenomic profiling to expand our understanding of the normal methylome and its disruption in human disease

    Studies of particle interactions in bubble chamber, spark chambers and counter experiments. Annual progress report

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    During the past six years we have carried out and planned experiments which predominantly studied the production and decay of particles containing charmed quarks. A series of photoproduction and neutron production experiments started with the very early observation of the production of J/psi by neutrons and by photons at Fermilab. From subsequent experiments using these neutral beams and the basic detecting system, we have reported results on the photoproduction of the ..lambda../sub c/ charmed baryon and the D and D* charmed mesons. More recent runs are studying the high energy photoproduction of vector mesons including the psi'. The present experiment in this sequence is using neutrons to produce a large number of D mesons. Another series of experiments at Fermilab set out to study the hadronic production of charmed mesons. The Chicago Cyclotron facility was modified with a detector sensitive to various possible production mechanisms. The experiments were a success; clean signals of D mesons were observed to be produced by pions, and also the production of chi/sub c/ with the subsequent decay via a ..gamma..-ray to psi was observed. The charmonium experiments run this year have better photon resolution for measuring the decays of chi/sub c/ to psi. We are part of a collaboration which is working on the Collider Detector Facility for Fermilab. The CDF at Fermilab is a possible source of (weak) intermediate vector bosons from the collisions of protons and anti-protons. Our responsibilities in the CDF include both the construction of the muon detector and the designing, planning, and testing of the FASTBUS electronics. The second part of our weak interaction program is the Neutrino Oscillation experiment which is now under construction at Brookhaven

    Global warming and changing patterns of horticultural production in the United Kingdom

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    SIGLEAvailable from British Library Document Supply Centre- DSC:DX187798 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

    MUC7 haplotype analysis: results from a longitudinal birth cohort support protective effect of the MUC7*5 allele on respiratory function

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    The mucin MUC7 is a glycoprotein that plays a role in bacterial clearance and has candidacidal activity. There are two common allelic forms with 5 or 6 tandem repeats (TR) of a 23 amino acid motif within the highly glycosylated (mucin) domain. The MUC7*5 allele has previously been shown to be less prevalent in patients with asthma, suggesting a protective role in respiratory function. Here we report the characterisation of other frequent genetic variation within and in the vicinity of the gene MUC7. A total of 26 polymorphisms were identified of which 5 are located in transcribed regions. A subset of 8 polymorphisms was selected to represent the major haplotypes, and allelic association was studied in individuals of Northern European ancestry, including known asthmatics. There was low haplotype diversity and strong association between each of the loci, and the MUC7*5 allele-carrying haplotype remained the one most strongly associated with asthma. Five of these polymorphisms have also been tested in the 1946 longitudinal birth cohort, for whom developmental, environmental and respiratory health data are available. We show that the haplotype carrying MUC7*5 is associated with higher FEV1 at 53 years, reduced age-related decline of FEV1, and also reduced incidence of wheeze

    Incremental Design of a Power Transformer Station Controller using a Controller Synthesis Methodology

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    this paper, we describe the incremental specification of a power transformer station controller using a controller synthesis methodology. We specify the main requirements as simple properties, named control objectives, that the controlled plant has to satisfy. Then, using algebraic techniques, the controller is automatically derived from this set of control objectives. In our case, the plant is specified at a high level, using the data-flow synchronous SIGNAL language, and then by its logical abstraction, named polynomial dynamical system. The control objectives are specified as invariance, reachability, ... properties, as well as partial order relations to be checked by the plant. The control objectives equations are synthesized using algebraic transformation
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