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目前原发性干燥综合征(pSS)诊断仍然依赖于侵入性小涎腺活检手术,常导致其早期诊断异常艰难,因此筛选特定生物标志物可能对pSS诊断和个体化治疗极为有益。本文回顾传统标志物及与B细胞活化和表观遗传相关的新标志物,并综述组学标志物研究进展。尽管生物标志物前景较好,但其可靠性仍需扩大样本量进行验证。 相似文献
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Rebecca C. Richmond Aleef Al-Amin George Davey Smith Caroline L. Relton 《Early human development》2014
Large-scale population-based birth cohorts, which recruit women during pregnancy or at birth and follow up their offspring through infancy and into childhood and adolescence, provide the opportunity to monitor and model early life exposures in relation to developmental characteristics and later life outcomes. However, due to confounding and other limitations, identification of causal risk factors has proved challenging and published findings are often not reproducible. A suite of methods has been developed in recent years to minimise problems afflicting observational epidemiology, to strengthen causal inference and to provide greater insights into modifiable intra-uterine and early life risk factors. The aim of this review is to describe these causal inference methods and to suggest how they may be applied in the context of birth cohorts and extended along with the development of birth cohort consortia and expansion of “omic” technologies. 相似文献
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《国际护理科学(英文)》2020,7(1):5-12
Precision health refers to personalized healthcare based on a person’s unique genetic, genomic, or omic composition within the context of lifestyle, social, economic, cultural and environmental influences to help individuals achieve well-being and optimal health. Precision health utilizes big data sets that combine omics (i.e. genomic sequence, protein, metabolite, and microbiome information) with clinical information and health outcomes to optimize disease diagnosis, treatment and prevention specific to each patient. Successful implementation of precision health requires interprofessional collaboration, community outreach efforts, and coordination of care, a mission that nurses are well-positioned to lead. Despite the surge of interest and attention to precision health, most nurses are not well-versed in precision health or its implications for the nursing profession. Based on a critical analysis of literature and expert opinions, this paper provides an overview of precision health and the importance of engaging the nursing profession for its implementation. Other topics reviewed in this paper include big data and omics, information science, integration of family health history in precision health, and nursing omics research in symptom science. The paper concludes with recommendations for nurse leaders in research, education, clinical practice, nursing administration and policy settings for which to develop strategic plans to implement precision health. 相似文献
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Etiology of complex diseases, such as breast cancer, involves multiple genetic, behavioral and environmental factors. Gene sequencing enabled detection of genetic risks with relatively small effect size, and high-resolution metabolomics (HRM) to provide omics level data for exposures is poised to do the same for environmental epidemiology. Coupling HRM to the Child Health and Development Studies (CHDS) cohort combines two unique resources to create a prototype for exposome epidemiology, in which omics scale measures of exposure are used for study of distribution and determinants of health and disease. Using this approach, exposures and biologic responses during pregnancy have been linked to breast cancer in the CHDS. With improved chemical coverage and extension to larger populations and other disease processes, development of exposome epidemiology portends discovery of new disease-associated environment factors with small effect size as well as new capabilities to disentangle these from behavioral and other risk factors. 相似文献