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The UK National Screening Committee's position on child-parent screening for familial hypercholesterolaemia.英国国家筛查委员会关于家族性高胆固醇血症的儿童-父母筛查的立场。
J Med Screen. 2021 Sep;28(3):217-220. doi: 10.1177/09691413211025426. Epub 2021 Jul 22.
2
Ethnic access to child-parent screening for familial hypercholesterolaemia.不同种族群体接受儿童-父母家族性高胆固醇血症筛查的情况。
Eur J Prev Cardiol. 2019 Aug;26(12):1341-1342. doi: 10.1177/2047487319843668. Epub 2019 Apr 11.
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Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.儿童-父母联合筛查与家族性高胆固醇血症级联筛查的整合。
J Med Screen. 2019 Jun;26(2):71-75. doi: 10.1177/0969141318796856. Epub 2018 Oct 14.
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Mutation screening in patients for familial hypercholesterolaemia (ADH).对家族性高胆固醇血症（ADH）患者进行突变筛查。
Clin Genet. 2010 Jan;77(1):97-9. doi: 10.1111/j.1399-0004.2009.01279.x. Epub 2009 Oct 14.
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Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies.家族性高胆固醇血症的检测目标：识别策略的比较。
Atherosclerosis. 2020 Jan;293:57-61. doi: 10.1016/j.atherosclerosis.2019.11.028. Epub 2019 Nov 29.
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Universal screening of children for familial hypercholesterolaemia: Value for money?对儿童进行家族性高胆固醇血症的普遍筛查：性价比如何？
Atherosclerosis. 2018 Aug;275:384-386. doi: 10.1016/j.atherosclerosis.2018.06.874. Epub 2018 Jun 22.
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Decision to reject screening for familial hypercholesterolaemia is flawed.拒绝进行家族性高胆固醇血症筛查的决定存在缺陷。
Arch Dis Child. 2021 Jun;106(6):525-526. doi: 10.1136/archdischild-2020-319168. Epub 2020 Jun 29.
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People at risk of familial hypercholesterolaemia should have DNA test, says NICE.英国国家卫生与临床优化研究所表示，有家族性高胆固醇血症风险的人应该进行DNA检测。
BMJ. 2017 Nov 2;359:j5112. doi: 10.1136/bmj.j5112.
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Familial hypercholesterolaemia: Child-parent screening may have adverse psychological effects.家族性高胆固醇血症：儿童与父母筛查可能产生不良心理影响。
BMJ. 2007 Oct 6;335(7622):683. doi: 10.1136/bmj.39353.368553.BE.
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Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis.儿童-父母家族性高胆固醇血症筛查：基于荟萃分析的筛查策略
Ann Clin Biochem. 2008 Jan;45(Pt 1):114. doi: 10.1258/acb.2008.200801.

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Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.对常染色体显性家族性高胆固醇血症进行两阶段成年人群筛查的模型构建：英国生物银行内的横断面分析
BMJ Public Health. 2023 Oct 29;1(1):e000021. doi: 10.1136/bmjph-2023-000021. eCollection 2023 Nov.
2
Overcoming the real and imagined barriers to cholesterol screening in pediatrics.克服儿科胆固醇筛查中的实际和想象中的障碍。
J Clin Lipidol. 2024 May-Jun;18(3):e297-e307. doi: 10.1016/j.jacl.2024.02.008. Epub 2024 Mar 6.
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Childhood Screening for Familial Hypercholesterolemia: JACC Review Topic of the Week.儿童家族性高胆固醇血症筛查：美国心脏病学会评论专题之周更。
J Am Coll Cardiol. 2023 Oct 10;82(15):1558-1563. doi: 10.1016/j.jacc.2023.07.028.
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Newborn Screening by Genomic Sequencing: Opportunities and Challenges.通过基因组测序进行新生儿筛查：机遇与挑战
Int J Neonatal Screen. 2022 Jul 15;8(3):40. doi: 10.3390/ijns8030040.
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Are screening practice ethics committees needed?是否需要筛查实践伦理委员会？
J Med Screen. 2021 Dec;28(4):377-378. doi: 10.1177/09691413211039247. Epub 2021 Sep 16.

本文引用的文献

1
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.澳大利亚强化家族性高胆固醇血症治疗的综合指导建议
Heart Lung Circ. 2021 Mar;30(3):324-349. doi: 10.1016/j.hlc.2020.09.943. Epub 2020 Dec 9.
2
Decision to reject screening for familial hypercholesterolaemia is flawed.拒绝进行家族性高胆固醇血症筛查的决定存在缺陷。
Arch Dis Child. 2021 Jun;106(6):525-526. doi: 10.1136/archdischild-2020-319168. Epub 2020 Jun 29.
3
20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia.20 年随访家族性高胆固醇血症患儿他汀类药物治疗。
N Engl J Med. 2019 Oct 17;381(16):1547-1556. doi: 10.1056/NEJMoa1816454.
4
Identifying Perceptions and Preferences of the General Public Concerning Universal Screening of Children for Familial Hypercholesterolaemia.识别公众对儿童家族性高胆固醇血症普遍筛查的看法和偏好。
Public Health Genomics. 2019;22(1-2):25-35. doi: 10.1159/000501463. Epub 2019 Jul 22.
5
Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.儿童-父母联合筛查与家族性高胆固醇血症级联筛查的整合。
J Med Screen. 2019 Jun;26(2):71-75. doi: 10.1177/0969141318796856. Epub 2018 Oct 14.
6
Success in Achieving the Targets of the 20-Year Infancy-Onset Dietary Intervention: Association With Insulin Sensitivity and Serum Lipids.实现 20 年婴幼儿饮食干预目标的成功：与胰岛素敏感性和血清脂质的关联。
Diabetes Care. 2018 Oct;41(10):2236-2244. doi: 10.2337/dc18-0869. Epub 2018 Aug 2.
7
Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis.1-2 岁时进行普遍筛查以作为英国家族性高胆固醇血症级联检测的辅助手段：成本效用分析。
Atherosclerosis. 2018 Aug;275:434-443. doi: 10.1016/j.atherosclerosis.2018.05.047. Epub 2018 Jun 4.
8
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.儿童-父母家族性高胆固醇血症的初级保健筛查。
N Engl J Med. 2016 Oct 27;375(17):1628-1637. doi: 10.1056/NEJMoa1602777.
9
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.纯合子家族性高胆固醇血症：临床医生提高检测和临床管理水平的新见解与指南。欧洲动脉粥样硬化学会家族性高胆固醇血症共识小组的立场文件。
Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22.
10
Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis.从生命早期开始长期暴露于较低的低密度脂蛋白胆固醇水平对冠心病风险的影响：一项孟德尔随机分析。
J Am Coll Cardiol. 2012 Dec 25;60(25):2631-9. doi: 10.1016/j.jacc.2012.09.017. Epub 2012 Oct 17.

The UK National Screening Committee's position on child-parent screening for familial hypercholesterolaemia.

作者信息

Wald David S, Neely Dermot

机构信息

Population Health Research Institute, St George's University of London, London, UK.

Academic Health Sciences Network for the North East and North Cumbria, The Campus for Ageing and Vitality, Newcastle upon Tyne, UK.

出版信息

J Med Screen. 2021 Sep;28(3):217-220. doi: 10.1177/09691413211025426. Epub 2021 Jul 22.

DOI:10.1177/09691413211025426
PMID:34292841
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8366130/
Abstract
摘要