344 research outputs found

    Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

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    Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter

    Mission Concept for the Single Aperture Far-Infrared (SAFIR) Observatory

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    The Single Aperture Far-InfraRed (SAFIR) Observatory's science goals are driven by the fact that the earliest stages of almost all phenomena in the universe are shrouded in absorption by and emission from cool dust and gas that emits strongly in the far-infrared and submillimeter. Over the past several years, there has been an increasing recognition of the critical importance of this spectral region to addressing fundamental astrophysical problems, ranging from cosmological questions to understanding how our own Solar System came into being. The development of large, far-infrared telescopes in space has become more feasible with the combination of developments for the James Webb Space Telescope and of enabling breakthroughs in detector technology. We have developed a preliminary but comprehensive mission concept for SAFIR, as a 10 m-class far-infrared and submillimeter observatory that would begin development later in this decade to meet the needs outlined above. Its operating temperature (<4K) and instrument complement would be optimized to reach the natural sky confusion limit in the far-infrared with diffraction-limited peformance down to at least 40 microns. This would provide a point source sensitivity improvement of several orders of magnitude over that of Spitzer or Herschel, with finer angular resolution, enabling imaging and spectroscopic studies of individual galaxies in the early universe. We have considered many aspects of the SAFIR mission, including the telescope technology, detector needs and technologies, cooling method and required technology developments, attitude and pointing, power systems, launch vehicle, and mission operations. The most challenging requirements for this mission are operating temperature and aperture size of the telescope, and the development of detector arrays.Comment: 36 page

    Pinning of a solid--liquid--vapour interface by stripes of obstacles

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    We use a macroscopic Hamiltonian approach to study the pinning of a solid--liquid--vapour contact line on an array of equidistant stripes of obstacles perpendicular to the liquid. We propose an estimate of the density of pinning stripes for which collective pinning of the contact line happens. This estimate is shown to be in good agreement with Langevin equation simulation of the macroscopic Hamiltonian. Finally we introduce a 2--dimensional mean field theory which for small strength of the pinning stripes and for small capillary length gives an excellent description of the averaged height of the contact line.Comment: Plain tex, 12 pages, 3 figures available upon reques

    Atenolol versus losartan in children and young adults with Marfan's syndrome

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    BACKGROUND : Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers. METHODS : We conducted a randomized trial comparing losartan with atenolol in children and young adults with Marfan's syndrome. The primary outcome was the rate of aortic-root enlargement, expressed as the change in the maximum aortic-root-diameter z score indexed to body-surface area (hereafter, aortic-root z score) over a 3-year period. Secondary outcomes included the rate of change in the absolute diameter of the aortic root; the rate of change in aortic regurgitation; the time to aortic dissection, aortic-root surgery, or death; somatic growth; and the incidence of adverse events. RESULTS : From January 2007 through February 2011, a total of 21 clinical centers enrolled 608 participants, 6 months to 25 years of age (mean [+/- SD] age, 11.5 +/- 6.5 years in the atenolol group and 11.0 +/- 6.2 years in the losartan group), who had an aorticroot z score greater than 3.0. The baseline-adjusted rate of change (+/- SE) in the aortic-root z score did not differ significantly between the atenolol group and the losartan group (-0.139 +/- 0.013 and -0.107 +/- 0.013 standard-deviation units per year, respectively; P = 0.08). Both slopes were significantly less than zero, indicating a decrease in the degree of aortic-root dilatation relative to body-surface area with either treatment. The 3-year rates of aortic-root surgery, aortic dissection, death, and a composite of these events did not differ significantly between the two treatment groups. CONCLUSIONS : Among children and young adults with Marfan's syndrome who were randomly assigned to losartan or atenolol, we found no significant difference in the rate of aorticroot dilatation between the two treatment groups over a 3-year period

    Measuring Black Hole Spin using X-ray Reflection Spectroscopy

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    I review the current status of X-ray reflection (a.k.a. broad iron line) based black hole spin measurements. This is a powerful technique that allows us to measure robust black hole spins across the mass range, from the stellar-mass black holes in X-ray binaries to the supermassive black holes in active galactic nuclei. After describing the basic assumptions of this approach, I lay out the detailed methodology focusing on "best practices" that have been found necessary to obtain robust results. Reflecting my own biases, this review is slanted towards a discussion of supermassive black hole (SMBH) spin in active galactic nuclei (AGN). Pulling together all of the available XMM-Newton and Suzaku results from the literature that satisfy objective quality control criteria, it is clear that a large fraction of SMBHs are rapidly-spinning, although there are tentative hints of a more slowly spinning population at high (M>5*10^7Msun) and low (M<2*10^6Msun) mass. I also engage in a brief review of the spins of stellar-mass black holes in X-ray binaries. In general, reflection-based and continuum-fitting based spin measures are in agreement, although there remain two objects (GROJ1655-40 and 4U1543-475) for which that is not true. I end this review by discussing the exciting frontier of relativistic reverberation, particularly the discovery of broad iron line reverberation in XMM-Newton data for the Seyfert galaxies NGC4151, NGC7314 and MCG-5-23-16. As well as confirming the basic paradigm of relativistic disk reflection, this detection of reverberation demonstrates that future large-area X-ray observatories such as LOFT will make tremendous progress in studies of strong gravity using relativistic reverberation in AGN.Comment: 19 pages. To appear in proceedings of the ISSI-Bern workshop on "The Physics of Accretion onto Black Holes" (8-12 Oct 2012). Revised version adds a missing source to Table 1 and Fig.6 (IRAS13224-3809) and corrects the referencing of the discovery of soft lags in 1H0707-495 (which were in fact first reported in Fabian et al. 2009

    Precise calculation of parity nonconservation in cesium and test of the standard model

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    We have calculated the 6s-7s parity nonconserving (PNC) E1 transition amplitude, E_{PNC}, in cesium. We have used an improved all-order technique in the calculation of the correlations and have included all significant contributions to E_{PNC}. Our final value E_{PNC} = 0.904 (1 +/- 0.5 %) \times 10^{-11}iea_{B}(-Q_{W}/N) has half the uncertainty claimed in old calculations used for the interpretation of Cs PNC experiments. The resulting nuclear weak charge Q_{W} for Cs deviates by about 2 standard deviations from the value predicted by the standard model.Comment: 24 pages, 8 figure

    Tomato: a crop species amenable to improvement by cellular and molecular methods

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    Tomato is a crop plant with a relatively small DNA content per haploid genome and a well developed genetics. Plant regeneration from explants and protoplasts is feasable which led to the development of efficient transformation procedures. In view of the current data, the isolation of useful mutants at the cellular level probably will be of limited value in the genetic improvement of tomato. Protoplast fusion may lead to novel combinations of organelle and nuclear DNA (cybrids), whereas this technique also provides a means of introducing genetic information from alien species into tomato. Important developments have come from molecular approaches. Following the construction of an RFLP map, these RFLP markers can be used in tomato to tag quantitative traits bred in from related species. Both RFLP's and transposons are in the process of being used to clone desired genes for which no gene products are known. Cloned genes can be introduced and potentially improve specific properties of tomato especially those controlled by single genes. Recent results suggest that, in principle, phenotypic mutants can be created for cloned and characterized genes and will prove their value in further improving the cultivated tomato.

    Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

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    Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent–child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case–control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive–compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes

    Biology, Fishery, Conservation and Management of Indian Ocean Tuna Fisheries

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    The focus of the study is to explore the recent trend of the world tuna fishery with special reference to the Indian Ocean tuna fisheries and its conservation and sustainable management. In the Indian Ocean, tuna catches have increased rapidly from about 179959 t in 1980 to about 832246 t in 1995. They have continued to increase up to 2005; the catch that year was 1201465 t, forming about 26% of the world catch. Since 2006 onwards there has been a decline in the volume of catches and in 2008 the catch was only 913625 t. The Principal species caught in the Indian Ocean are skipjack and yellowfin. Western Indian Ocean contributed 78.2% and eastern Indian Ocean 21.8% of the total tuna production from the Indian Ocean. The Indian Ocean stock is currently overfished and IOTC has made some recommendations for management regulations aimed at sustaining the tuna stock. Fishing operations can cause ecological impacts of different types: by catches, damage of the habitat, mortalities caused by lost or discarded gear, pollution, generation of marine debris, etc. Periodic reassessment of the tuna potential is also required with adequate inputs from exploratory surveys as well as commercial landings and this may prevent any unsustainable trends in the development of the tuna fishing industry in the Indian Ocean
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