• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

囊性纤维化的基因检测

Genetic testing for cystic fibrosis.

出版信息

NIH Consens Statement. 1997;15(4):1-37.

PMID:9532980
Abstract

OBJECTIVE

To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF).

PARTICIPANTS

A non-Federal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500.

EVIDENCE

The literature was searched through Medline, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience.

CONSENSUS PROCESS

The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference.

摘要

目的

为医疗保健提供者、患者及公众提供关于囊性纤维化(CF)基因检测最佳实践的负责任评估。

参与者

一个由14名成员组成的非联邦、非倡导性小组,成员代表遗传学、产科、内科、护理、社会工作、流行病学、儿科、精神病学、遗传咨询、生物伦理学、卫生经济学、卫生服务研究、法律及公众等领域。此外,来自这些相同领域的21位专家向该小组及500名参会者提交了数据。

证据

通过医学在线数据库(Medline)检索文献,并向该小组及参会者提供了一份广泛的参考文献目录。专家们编写了带有文献相关引用的摘要。科学证据优先于临床轶事经验。

共识过程

该小组回答预先设定的问题,基于公开论坛上呈现的科学证据及科学文献得出结论。该小组撰写了一份声明草案,全文宣读后分发给专家和参会者征求意见。此后,该小组解决了相互冲突的建议,并在会议结束时发布了一份修订声明。该小组在会议结束后的几周内完成了修订的定稿。

相似文献

1
Genetic testing for cystic fibrosis.囊性纤维化的基因检测
NIH Consens Statement. 1997;15(4):1-37.
2
Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.囊性纤维化的基因检测。美国国立卫生研究院关于囊性纤维化基因检测的共识发展会议声明。
Arch Intern Med. 1999 Jul 26;159(14):1529-39.
3
Rehabilitation of persons with traumatic brain injury.创伤性脑损伤患者的康复
NIH Consens Statement. 1998;16(1):1-41.
4
Diagnosis and treatment of attention deficit hyperactivity disorder (ADHD).注意缺陷多动障碍(ADHD)的诊断与治疗。
NIH Consens Statement. 1998;16(2):1-37.
5
Phenylketonuria (PKU): screening and management.苯丙酮尿症(PKU):筛查与管理
NIH Consens Statement. 2000;17(3):1-33.
6
Acupuncture.针灸
NIH Consens Statement. 1997;15(5):1-34.
7
National Institutes of Health Consensus Development Conference Statement: breast cancer screening for women ages 40-49, January 21-23, 1997. National Institutes of Health Consensus Developmental Panel.美国国立卫生研究院共识发展会议声明:40 - 49岁女性乳腺癌筛查,1997年1月21 - 23日。美国国立卫生研究院共识发展小组。
J Natl Cancer Inst Monogr. 1997(22):vii-xviii.
8
Interventions to prevent HIV risk behaviors. National Institutes of Health Consensus Development Conference Statement February 11-13, 1997.预防艾滋病病毒危险行为的干预措施。美国国立卫生研究院共识发展会议声明,1997年2月11日至13日
AIDS. 2000 Sep;14 Suppl 2:S85-96.
9
Interventions to prevent HIV risk behaviors.预防艾滋病毒危险行为的干预措施。
NIH Consens Statement. 1997;15(2):1-41.
10
National Institutes of Health Consensus Development Conference statement: adjuvant therapy for breast cancer, November 1-3, 2000.美国国立卫生研究院共识发展会议声明:乳腺癌辅助治疗,2000年11月1日至3日。
J Natl Cancer Inst Monogr. 2001(30):5-15.

引用本文的文献

1
The evolving landscape of expanded carrier screening: challenges and opportunities.扩展携带者筛查的演变格局:挑战与机遇。
Genet Med. 2019 Apr;21(4):790-797. doi: 10.1038/s41436-018-0273-4. Epub 2018 Sep 24.
2
Update and Review: Cystic Fibrosis.更新与综述:囊性纤维化
J Genet Couns. 1999 Jun;8(3):137-62. doi: 10.1023/A:1022853822424.
3
Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.囊性纤维化:筛查还是不筛查?让公民陪审团参与携带者筛查决策。
Health Expect. 2015 Dec;18(6):1956-67. doi: 10.1111/hex.12261. Epub 2014 Sep 9.
4
Inhalable antibiotic delivery using a dry powder co-delivering recombinant deoxyribonuclease and ciprofloxacin for treatment of cystic fibrosis.使用干粉共递送重组脱氧核糖核酸酶和环丙沙星治疗囊性纤维化的可吸入抗生素递送。
Pharm Res. 2010 Jan;27(1):151-60. doi: 10.1007/s11095-009-9991-2. Epub 2009 Oct 22.
5
Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test.新生儿囊性纤维化筛查:父母对婴儿汗液测试时咨询服务的偏好。
J Genet Couns. 2006 Aug;15(4):277-91. doi: 10.1007/s10897-006-9031-x.
6
Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.在常规携带者筛查中检测到一个明显的纯合3120G>A囊性纤维化突变。
J Mol Diagn. 2006 Feb;8(1):137-40. doi: 10.2353/jmoldx.2006.050065.
7
Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.采用荧光杂交探针进行血色素沉着症突变的同质多重基因分型。
Am J Pathol. 1998 Oct;153(4):1055-61. doi: 10.1016/S0002-9440(10)65650-7.