21 research outputs found

    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

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    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

    Dictator Games: A Meta Study

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    A literature review of the effects of computer input device design on biomechanical loading and musculoskeletal outcomes during computer work

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    BACKGROUND: Extended use of conventional computer input devices is associated with negative musculoskeletal outcomes. While many alternative designs have been proposed, it is unclear whether these devices reduce biomechanical loading and musculoskeletal outcomes. OBJECTIVE:To review studies describing and evaluating the biomechanical loading and musculoskeletal outcomes associated with conventional and alternative input devices. METHODS: Included studies evaluated biomechanical loading and/or musculoskeletal outcomes of users’ distal or proximal upper extremity regions associated with the operation of alternative input devices (pointing devices, mice, other devices) that could be used in a desktop personal computing environment during typical office work. RESULTS:Some alternative pointing device designs (e.g. rollerbar) were consistently associated with decreased biomechanical loading while other designs had inconsistent results across studies. Most alternative keyboards evaluated in the literature reduce biomechanical loading and musculoskeletal outcomes. Studies of other input devices (e.g. touchscreen and gestural controls) were rare, however, those reported to date indicate that these devices are currently unsuitable as replacements for traditional devices. CONCLUSIONS: Alternative input devices that reduce biomechanical loading may make better choices for preventing or alleviating musculoskeletal outcomes during computer use, however, it is unclear whether many existing designs are effective

    The effects of psychosocial factors on trapezius muscle activity levels during computer use

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    The goal of the present study, a part of the PROOF (Predicting Occupational biomechanics among OFfice workers) study, was to determine if there was a relationship between psychosocial stress, measured by reward and over-commitment, and trapezius muscle activity while workers performed their own computer work in the field. We observed that workers reporting higher levels of over-commitment and lower reward also experienced approximately 40% higher median trapeizus muscle activity levels than workers reporting lower levels of over-commitment and lower reward (change from 3.5% MVC to 6% MVC), with no difference in muscle activity for workers reporting high reward and either low or high overcommitment. Workers reporting higher levels of over-commitment experienced more variability in trapezius muscle activity. The results of this study may be used to inform interventions targeting reduction of musculoskeletal disorders among office workers
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