Parental attitudes and expectations towards receiving genomic test results in healthy children.
Parental attitudes and expectations towards receiving genomic test results in healthy children.
复制标题
父母对健康儿童基因组检测结果的态度和期望。
DOI：
10.1093/tbm/ibx044
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发表时间：
2018
影响因子：
3.6
通讯作者：
Williams,MarcS
中科院分区：
文献类型：
--
作者：
KulchakRahm,Alanna;Bailey,Lindsay;Fultz,Kara;Fan,Audrey;Williams,JanetL;Buchanan,Adam;Davis,FDaniel;Murray,MichaelF;Williams,MarcS
没有什么证据可以指导没有测序医学指征的儿童返回基因组结果。返回成人发病情况信息的专业指导方针是相互矛盾的。本研究的目的是提供初步的信息，父母的态度和期望返回医学上可操作的基因组结果的儿童谁已被测序的一部分，人口biobank.Four焦点小组的父母与一个孩子参加了人口biobank进行。审议参与的形式包括围绕将结果返回给儿童的专业准则和道德问题的教育。向父母提出了两种情况，他们的健康孩子有一个致病性变异：（a）医学上可采取行动的儿童期疾病;（B）遗传性癌症综合征，直到成年没有医疗管理。对逐字记录本进行了专题分析。不管是哪种情况，父母都表示基因组信息很重要，就像其他意想不到的医疗信息一样，应该根据孩子的年龄和结果进行披露。父母希望孩子的医疗记录中有结果。在他们的健康儿童中学习成人发病结果的原因包括为他们的孩子在成年后采取必要的医疗行动做准备。家长们还为节目设计提供了建议。这一初步证据表明，父母希望获得基因组结果，并希望利用这些信息来保护孩子的健康。需要进行更多关于在父母和儿童的持续参与下对这些信息进行心理社会调整的实证研究，以进一步了解如何最好地支持家庭交流和使用基因组信息。
Little evidence is available to guide returning genomic results in children without medical indication for sequencing. Professional guidelines for returning information on adult-onset conditions are conflicting. The goal of this study was to provide preliminary information on parental attitudes and expectations about returning medically actionable genomic results in children who have been sequenced as part of a population biobank.Four focus groups of parents with a child enrolled in a population biobank were conducted. A deliberative engagement format included education about professional guidelines and ethical issues around returning results to children. Parents were presented two scenarios where their healthy child has a pathogenic variant for: (a) a medically actionable childhood condition; (b) a hereditary cancer syndrome with no medical management until adulthood. Thematic analysis was conducted on verbatim transcripts. Regardless of the scenario, parents stated that the genomic information was important, was like other unexpected medical information, and disclosure should be tailored to the child’s age and result. Parents wanted the results in their child’s medical record. Reasons for learning adult-onset results in their healthy children included to prepare their child for necessary medical action in adulthood. Parents also provided suggestions for program design. This preliminary evidence suggests that parents desire genomic results and expect to use this information to protect their child’s health. More empirical research on psychosocial adjustment to such information with continued engagement of parents and children is needed to further inform how to best support families in the communication and use of genomic information.
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可溶性免疫复合物从人红细胞上的免疫粘附受体的释放是由独立于 Beta 1H 的 C3b 灭活剂介导的，并伴随着 C3c 的生成。
DOI：
10.1073/pnas.79.16.5047
发表时间：
1982
影响因子：
11.1
作者：
Medof,ME;Prince,GM;Mold,C
通讯作者：
Mold,C
共价结合的 C3b 从细胞表面自然释放以及在液相系统中研究这种现象。
DOI：
--
发表时间：
1984
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Venkatesh,YP;Minich,TM;Law,SK;Levine,RP
通讯作者：
Levine,RP
免疫性溶血性贫血的病理生理学
DOI：
--
发表时间：
1977
期刊：
影响因子：
--
作者：
M. Frank;A. Schreiber;J. Atkinson;C. J. Jaffe
通讯作者：
C. J. Jaffe
人类血液白细胞和血小板表面膜表达腐烂加速因子，这是补体系统的调节蛋白。
影响因子：
20.3
作者：
Nicholson-Weller,A;March,JP;Rosen,CE;Spicer,DB;Austen,KF
通讯作者：
Austen,KF
C3b 不稳定结合位点与接受表面之间存在酯键的证据。
影响因子：
4.4
作者：
S. Law;N. Lichtenberg;R. Levine
通讯作者：
R. Levine