357 research outputs found

    No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees

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    <p>Abstract</p> <p>Background</p> <p>Germline mutations in the <it>BRCA2 </it>gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e., ≤ 55 years) prostate cancer cases and a segregating founder mutation has been identified in Iceland (999del5). However, the role of <it>BRCA2 </it>in high risk prostate cancer pedigrees remains unclear.</p> <p>Findings</p> <p>We examined the potential involvement of <it>BRCA2 </it>in a set offive high-risk prostate cancer pedigrees in which all prostate cases were no more distantly related than two meioses from another case, and the resulting cluster contained at least four prostate cancer cases. We selected these five pedigrees from a larger dataset of 59 high-risk prostate cancer pedigrees analyzed in a genome-wide linkage screen. Selected pedigrees showed at least nominal linkage evidence to the <it>BRCA2 </it>region on chromosome 13q. We mutation screened all coding regions and intron/exon boundaries of the <it>BRCA2 </it>gene in the youngest prostate cancer case who carried the linked 13q segregating haplotype, as well as in a distantly related haplotype carrier to confirm any segregation. We observed no known protein truncating <it>BRCA2 </it>deleterious mutations. We identified one non-segregating <it>BRCA2 </it>variant of uncertain significance, one non-segregating intronic variant not previously reported, and a number of polymorphisms.</p> <p>Conclusion</p> <p>In this set of high-risk prostate cancer pedigrees with at least nominal linkage evidence to <it>BRCA2</it>, we saw no evidence for segregating <it>BRCA2 </it>protein truncating mutations in heritable prostate cancer.</p

    The Very Short Period M Dwarf Binary SDSS J001641-000925

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    We present follow-up observations and analysis of the recently discovered short period low-mass eclipsing binary, SDSS J001641-000925. With an orbital period of 0.19856 days, this system has one of the shortest known periods for an M dwarf binary system. Medium-resolution spectroscopy and multi-band photometry for the system are presented. Markov chain Monte Carlo modeling of the light curves and radial velocities yields estimated masses for the stars of M1 = 0.54 +/- 0.07 Msun and M2 = 0.34 +/- 0.04 Msun, and radii of R1 = 0.68 +/- 0.03 Rsun and R2 = 0.58 +/- 0.03 Rsun respectively. This solution places both components above the critical Roche overfill limit, providing strong evidence that SDSS J001641-000925 is the first verified M-dwarf contact binary system. Within the follow-up spectroscopy we find signatures of non-solid body rotation velocities, which we interpret as evidence for mass transfer or loss within the system. In addition, our photometry samples the system over 9 years, and we find strong evidence for period decay at the rate of dP/dt ~8 s/yr. Both of these signatures raise the intriguing possibility that the system is in over-contact, and actively losing angular momentum, likely through mass loss. This places SDSS J001641-000925 as not just the first M-dwarf over-contact binary, but one of the few systems of any spectral type known to be actively undergoing coalescence. Further study SDSS J001641-000925 is on-going to verify the nature of the system, which may prove to be a unique astrophysical laboratory.Comment: 11 figures, ApJ Accepte

    Long-Baseline Neutrino Facility (LBNF) and Deep Underground Neutrino Experiment (DUNE) Conceptual Design Report Volume 2: The Physics Program for DUNE at LBNF

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    The Physics Program for the Deep Underground Neutrino Experiment (DUNE) at the Fermilab Long-Baseline Neutrino Facility (LBNF) is described

    Walking to work in Canada: health benefits, socio-economic characteristics and urban-regional variations

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    <p>Abstract</p> <p>Background</p> <p>There is mounting concern over increasing rates of physical inactivity and overweight/obesity among children and adult in Canada. There is a clear link between the amount of walking a person does and his or her health. The purpose of this paper is to assess the health factors, socio-economic characteristics and urban-regional variations of walking to work among adults in Canada.</p> <p>Methods</p> <p>Data is drawn from two cycles of the Canadian Community Health Survey: 2001 and 2005. The study population is divided into three groups: non-walkers, lower-duration walkers and high-duration walkers. Logistic regression modeling tests the association between levels of walking and health related outcomes (diabetes, high blood pressure, stress, BMI, physical activity), socio-economic characteristics (sex, age, income, education) and place of residence (selected Census Metropolitan Areas).</p> <p>Results</p> <p>In 2005, the presence of diabetes and high blood pressure was not associated with any form of walking. Adults within the normal weight range were more likely to be high-duration walkers. Females and younger people were more likely to be lower-duration walkers but less likely to be high-duration walkers. There was a strong association between SES (particularly relative disadvantage) and walking to work. In both 2001 and 2005, the conditions influencing walking to work were especially prevalent in Canada's largest city, Toronto, as well as in several small to medium sized urban areas including Halifax, Kingston, Hamilton, Regina, Calgary and Victoria.</p> <p>Conclusion</p> <p>A number of strategies can be followed to increase levels of walking in Canada. It is clear that for many people walking to work is not possible. However, strategies can be developed to encourage adults to incorporate walking into their daily work and commuting routines. These include mass transit walking and workplace walking programs.</p
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