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Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of "unstable premutation" through carrier women 总被引:3,自引:0,他引:3
We report on a 4-generation family in which the Wiedemann Beckwith syndrome (WBS) was transmitted as an autosomal dominant trait. The condition occurred in sibs born to carrier women and in children born to affected mothers. Presumptive carrier women were examined for microsigns of WBS in an attempt to determine whether extreme variability of the disorder, rather than an unaffected carrier state, was present. No minor stigmata of the WBS could be found in the presumptive carriers. Our study supports a previous hypothesis that in some families the WBS can be transmitted in a 2-step process involving first an unstable premutation and then a "telomutation." Because only females appear to be transmitters of the telomutation, an ovum-mediated sex-associated factor may be involved in the process of telomutation. 相似文献
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Ostry AS Yassi A Ratner PA Park I Tate R Kidd C 《American journal of industrial medicine》2003,44(4):392-399
BACKGROUND: The number of elderly patients who do not have acute-care needs has increased in many North American hospitals. These alternate level care (ALC) patients are often cognitively impaired or physically dependent. The physical and psychosocial demands on caregivers may be growing with the increased presence of ALC patients leading to greater risk for injury among staff. METHODS: This prospective cohort study characterized several models for ALC care in four acute-care hospitals in British Columbia, Canada. A cohort of 2,854 patient care staff was identified and followed for 6 months. The association between ALC model of care and type and severity of injury was examined using multinomial and ordinal logistic regression. RESULTS: Regression models demonstrated that the workers on ALC/medical nursing units with "high" ALC patient loads and specialized geriatric assessment units had the greatest risk for injury and the greatest risk for incurring serious injury. Among staff caring for ALC patients, those on dedicated ALC units had the least risk for injury and the least risk for incurring serious injury. CONCLUSIONS: The way in which ALC care is organized in hospitals affects the risk and severity of injuries among patient care staff. 相似文献
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Yassi A Cohen M Cvitkovich Y Park IH Ratner PA Ostry AS Village J Polla N 《Nursing research》2004,53(2):87-98
BACKGROUND: Large variations in staff injury rates across intermediate care facilities suggest that injuries may be driven by facility-specific work environment factors. OBJECTIVES: To identify work organization, psychosocial, and biomechanical factors associated with staff injuries in intermediate care facilities, to pinpoint management practices that may contribute to lower staff injuries, and to generate a provisional conceptual framework of work organization characteristics. METHODS: Four representative intermediate care facilities with high staff injury rates and four facilities with comparable low staff injury rates were selected from Workers' Compensation Board (WCB) databases. Methods included on-site injury data collection and review of associated WCB data, ergonomic study of workloads, a telephone survey of resident care staff, manager-staff interviews, and focus groups. Pearson product-moment correlation coefficients identified associations between variables. Analysis of variance and t tests were used to determine differences between low and high staff injury rate facilities. Content analysis guided the qualitative analysis. RESULTS: There were no significant differences between low and high staff injury rate facilities in terms of workers' characteristics, residents' characteristics, and per capita public funding. The ergonomic study supported the survey data in demonstrating a relation among low staffing levels, greater muscle loading, and greater risk of injury. As compared with facilities that had high staff injury rates, facilities with low staff injury rates had significantly more favorable staffing levels and supportive work environments. Perceived quality of care was strongly correlated with burnout, health, and satisfaction. CONCLUSIONS: Safer work environments are promoted by favorable staffing levels, convenient access to mechanical lifts, workers' perceptions of employer fairness, and management practices that support the caregiving role. 相似文献
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Friesen MC Davies HW Teschke K Ostry AS Hertzman C Demers PA 《Epidemiology (Cambridge, Mass.)》2007,18(1):88-94
BACKGROUND: Exposure misclassification may occur when nonspecific exposure indicators are used. Developing estimates of more specific measures may be difficult due to sampling limitations or a paucity of historical measurements and, thus, often requires substantial effort. We examine the impact on exposure-response relationships of moving from 2 measures of exposure mixtures (dust, chlorophenols) to more specific exposure indicators (wood dust, pentachlorophenol, tetrachlorophenol) in a retrospective cohort. METHODS: The study population consisted of 26,847 male sawmill workers (> or =1 year employment between 1950 and 1995) with linkage to national cancer registries. A subcohort (n = 11,273 employed more than 1 day between 1985 and 1995) was linked to hospital discharge records. We evaluated the shape (log-linear vs log-log models), goodness of fit, precision, and expected versus observed attenuation of the exposure-response relationships. RESULTS: The correlation between the cumulative exposure indices was moderately high (dust/wood dust, r = 0.68; total chlorophenol/pentachlorophenol, r = 0.88; total chlorophenol/tetrachlorophenol, r = 0.78). An increase in chronic obstructive pulmonary disease hospitalizations was found with wood dust but not with total dust. Stronger associations for non-Hodgkin lymphoma and kidney cancer incidence were observed with pentachlorophenol than with total chlorophenol; no association was observed with tetrachlorophenol. We observed greater attenuation than expected using total dust, but less than expected using total chlorophenol. CONCLUSIONS: The relationships between health outcomes were substantially attenuated when nonspecific exposure indicators were used. This study demonstrates the importance of developing exposure metrics as specific to the disease-causing agent as possible, particularly when the composition of mixed exposures varies by work areas. 相似文献
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Karen L. Reckamp MD Carolyn E. Behrendt PhD Thomas P. Slavin MD Stacy W. Gray MD Danielle K. Castillo BS Marianna Koczywas MD Mihaela C. Cristea MD Kirsten M. Babski BS CCRP Donna Stearns BS Catherine A. Marcum APN AGACNP-BC AGN-BC ACGN Yenni P. Rodriguez MD Amie J. Hass MSN ARNP Mary M. Vecchio APNC OCN CTTS Pamela Mora MD Aleck E. Cervantes BS Sharon R. Sand MA Rosa M. Mejia BA Terrence C. Tsou BS Ravi Salgia MD PhD Jeffrey N. Weitzel MD 《Cancer》2021,127(15):2801-2806
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OBJECTIVES: To assess the relationships between current smoking status and psychosocial working conditions. METHODS: A cross-sectional population-based telephone survey was conducted (66% response rate, N = 1,101). Job stress was measured using the demand/control, effort/reward imbalance (ERI), and job pressure models. Multiple regression modelling was conducted for smoking status (current versus non-smokers, and a more restricted analysis of current versus former-smokers) and daily smoking intensity outcomes in relation to job stress measures, working hours, shift work, and other independent variables. RESULTS: After adjustment for age, education, martial status, and hostility, high job strain was positively associated with current smoking in men only. Employment in active jobs was associated with decreased odds of smoking among women only. High strain jobs were associated with decreased odds of current smoking compared to former smoking in women. In men, extreme and moderate job pressure were related to current smoking compared to current non-smoking, and moderate job pressure was associated with current smoking compared with former smokers. Other working conditions associated with smoking were excessive working hours in men and physical demand in women. Daily smoking intensity in current smokers was associated with high psychological demand and with ERI in women. CONCLUSIONS: These results suggest that job stress is related to smoking status at the population level, with different patterns in men and women. 相似文献