924 research outputs found

    Centerscope

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    Centerscope, formerly Scope, was published by the Boston University Medical Center "to communicate the concern of the Medical Center for the development and maintenance of improved health care in contemporary society.

    Physics of cosmic plasmas from high angular resolution X-ray imaging of galaxy clusters

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    Galaxy clusters are massive dark matter-dominated systems filled with X-ray emitting, optically thin plasma. Their large size and relative simplicity (at least as astrophysical objects go) make them a unique laboratory to measure some of the interesting plasma properties that are inaccessible by other means but fundamentally important for understanding and modeling many astrophysical phenomena -- from solar flares to black hole accretion to galaxy formation and the emergence of the cosmological Large Scale Structure. While every cluster astrophysicist is eagerly anticipating the direct gas velocity measurements from the forthcoming microcalorimeters onboard XRISM, Athena and future missions such as Lynx, a number of those plasma properties can best be probed by high-resolution X-ray imaging of galaxy clusters. Chandra has obtained some trailblazing results, but only grazed the surface of such studies. In this white paper, we discuss why we need arcsecond-resolution, high collecting area, low relative background X-ray imagers (with modest spectral resolution), such as the proposed AXIS and the imaging detector of Lynx.Comment: Science white paper submitted for Astro2020 Decadal survey. 9 pages, 4 figure

    Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models

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    <p>Abstract</p> <p>Background</p> <p>Accurate risk (penetrance) estimates for associated phenotypes in carriers of a major disease gene are important for genetic counselling of at-risk individuals. Population-specific estimates of penetrance are often needed as well. Families ascertained from high-risk disease clinics provide substantial data to estimate penetrance of a disease gene, but these estimates must be adjusted for possible specific sources of bias.</p> <p>Methods</p> <p>A cohort of 12 independently ascertained HNPCC families harbouring a founder MSH2 mutation was identified from a cancer genetics clinic in St. John's, Newfoundland, Canada. Carrier status was known for 247 family members but phenotype information on up to 85 additional relatives with unknown carrier status was available; using modified segregation models these additional individuals could be included in the analyses. Three HNPCC-related phenotypes were evaluated as age at diagnosis of: any HNPCC cancer (first cancer), colorectal cancer (CRC), and endometrial cancer (EC) for females.</p> <p>Results</p> <p>Lifetime (age 70) risk estimates for male and female carriers were similar for developing any HNPCC cancer (Males = 98.2%, 95% Confidence Interval (CI) = (93.8%, 99.9%); Females = 92.8%, 95% CI = (82.4%, 99.1%)) but female carriers experienced substantially reduced lifetime risk for developing CRC compared to male carriers (Females = 38.9%, 95% CI = (24.2%, 62.1%); Males = 84.5%, 95% CI = (67.3%, 91.3%)). Female non-carriers had very low lifetime risk for these two outcomes while male non-carriers had lifetime risks intermediate to the female carriers and non-carriers. Female carriers had a lifetime risk of developing EC of 82.4%. Relative risks for developing any HNPCC cancer (carriers relative to non-carriers) were substantially greater for females compared to their male counterparts (Females = 54.8, 95%CI = (4.4, 379.8); Males = 9.7, 95% CI = (0.3, 23.8)). Relative risks for developing CRC at age 70 were substantially greater for females compared to their male counterparts (Females = 23.7, 95%CI = (5.6, 137.9); Males = 6.8%, 95% CI = (2.3, 66.2)). However, the risk of developing CRC decreased with age among both genders.</p> <p>Conclusion</p> <p>The proposed modified segregation-based models used to estimate age-specific risks for HNPCC phenotypes can reduce bias due to ascertainment and missing genotype information as well as provide estimates of absolute and relative risks.</p
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