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Reproducibility of meta-analytic results in systematic reviews of interventions: meta-research study. 干预措施系统评价中meta分析结果的可重复性:meta研究。
IF 1 Pub Date : 2025-11-30 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-002024
Phi-Yen Nguyen, Joanne E McKenzie, Zainab Alqaidoom, Daniel G Hamilton, David Moher, Matthew J Page

Objective: To determine how often meta-analyses of effects of interventions are reproducible.

Design: Meta-research study.

Setting: Systematic reviews with meta-analyses of the effects of health, social, behavioural, or educational interventions indexed in five databases (PubMed, Science Citation Index, Social Sciences Citation Index, Scopus, and Education Collection), 2 November to 2 December 2020.

Population: 296 reviews meeting the inclusion criteria formed the overall sample of the study. 175/296 (59%) reviews included a forest plot from Review Manager and were considered inherently reproducible. The remaining 121/296 (41%) reviews constituted the reproduction sample.

Main outcome measures: Original review authors were contacted to obtain meta-analysis data files, and analytic code used to generate the first reported (index) meta-analysis; if not provided, the necessary data and statistical details of the meta-analysis methods were extracted from the review. Two investigators independently reproduced each review's first reported meta-analysis using the original computational steps and analytic code. Meta-analyses were classified as fully reproducible if the difference between the original and reproduced summary estimates and 95% confidence interval (CI) widths was less than 10%. Differences in meta-analysis results were classified as meaningful if there was a change in direction of the summary effect estimate or if the 95% CI included the null, which may alter the interpretation of the results.

Results: 22 authors provided data files or analytic code, or both. 104 meta-analyses (86%) were fully reproducible, seven (6%) were not fully reproducible, and 10 (8%) had insufficient data available to attempt reproduction. No meaningful differences were found in the reproduced meta-analytic results that might alter their interpretation (eg, changes in the direction of summary effect estimate or if the 95% CI included the null).

Conclusions: The findings of the study suggested that the results of meta-analyses could be reliably replicated if the original data or analytic code, or both, could be obtained, or if the necessary data were accessible in the review. Few systematic reviewers responded to requests to share data or code. Making data files and analytic code publicly available will facilitate future investigations of reproducibility.

目的:确定干预措施效果的荟萃分析的可重复性。设计:元研究研究。背景:系统综述,并对5个数据库(PubMed、Science Citation Index、social Sciences Citation Index、Scopus和Education Collection)中健康、社会、行为或教育干预措施的影响进行meta分析,检索时间为2020年11月2日至12月2日。总体:296篇符合纳入标准的综述构成了研究的总体样本。175/296(59%)的综述包括来自综述管理器的森林样地,并被认为具有内在可重复性。剩余的121/296(41%)篇综述构成了复制样本。主要结局指标:联系原综述作者获取meta分析数据文件,并使用分析代码生成首篇报告(索引)meta分析;如果未提供,则从综述中提取meta分析方法的必要数据和统计细节。两位研究者使用原始的计算步骤和分析代码独立地复制了每个综述的首次报道的荟萃分析。如果原始和复制的汇总估计和95%置信区间(CI)宽度之间的差异小于10%,则meta分析被归类为完全可重复的。如果总效应估计的方向发生变化,或者95% CI包含可能改变结果解释的零值,则meta分析结果的差异被归类为有意义。结果:22位作者提供了数据文件或分析代码,或两者兼而有之。104项荟萃分析(86%)完全可重复,7项(6%)不完全可重复,10项(8%)数据不足,无法尝试重复。在重复的meta分析结果中没有发现可能改变其解释的有意义的差异(例如,总效应估计方向的变化或95% CI包含null)。结论:本研究的结果表明,如果能够获得原始数据或分析代码,或两者兼而有之,或者在综述中可以获得必要的数据,则荟萃分析的结果可以可靠地重复。很少有系统审稿人响应共享数据或代码的请求。公开数据文件和分析代码将有助于未来对再现性的调查。
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引用次数: 0
Household size and its role in the association between multimorbidity and health and social care outcomes in older adults in Wales: retrospective cohort study. 家庭规模及其在威尔士老年人多病与健康和社会护理结果之间的关联中的作用:回顾性队列研究
IF 1 Pub Date : 2025-11-30 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2024-001317
Clare MacRae, Stewart W Mercer, Rhiannon K Owen, Rose Penfold, Stella Arakelyan, Chris Dibben, Jamie Pearce, Andrew Lawson, Nazir I Lone, Karin Modig, Bruce Guthrie
<p><strong>Objective: </strong>To examine how the risk of unplanned admission to hospital and transitioning to live in a care home by number of long term conditions varies by household size.</p><p><strong>Design: </strong>Retrospective cohort study.</p><p><strong>Setting: </strong>Wales Census 2011 household data, linked to the Welsh Secure Anonymised Information Linkage (SAIL) Databank, 27 March 2011 to 26 March 2016.</p><p><strong>Participants: </strong>391 686 residents of Wales recorded in the Wales Census on 27 March 2011, aged ≥65 years, living in Welsh households of one to six residents, registered with a general practitioner contributing data to the SAIL Databank.</p><p><strong>Main outcome measures: </strong>Time to the first unplanned hospital admission and time to transition from living at home in the community to living in a care home, for individuals with 0-1, 2-3, or ≥4 long term conditions living alone or in households with two residents or three or more residents.</p><p><strong>Results: </strong>Of the 391 686 individuals included, 36.8% lived alone, 54.0% lived in households of two, and 9.2% lived in households with three or more people. The number of long term conditions was strongly associated with the risk of hospital admission and transition to a care home. In those living in two person households, participants with ≥4 long term conditions versus those with 0-1 long term conditions had a higher risk of unplanned hospital admissions (adjusted hazard ratio 2.51, 95% confidence interval (CI) 2.47 to 2.55; crude event rate 180.1 (95% CI 178.5 to 181.7) <i>v</i> 54.8 (53.9 to 55.7) per 1000 person years) and of transitioning to live in a care home (adjusted hazard ratio 2.57, 2.49 to 2.66; crude event rate 7.2 (6.9 to 7.5) <i>v</i> 1.40 (1.3 to 1.5) per 1000 person years). Household size was associated with an increased risk of both outcomes but more strongly with transition to a care home than unplanned hospital admission. The risk of unplanned hospital admissions was higher for people with 0-1 long term conditions who lived alone than for those who lived in a two person household (adjusted hazard ratio 1.19, 95% CI 1.17 to 1.22; crude event rate 74.9 (95% CI 73.4 to 76.4) <i>v</i> 54.8 (53.9 to 55.7) per 1000 person years) and for transitioning to live in a care home (adjusted hazard ratio 1.48, 1.42 to 1.54; crude event rate 5.4 (5.0 to 5.8) <i>v</i> 1.4 (1.3 to 1.5) per 1000 person years). The association between the number of long term conditions and both outcomes varied by household size. Individuals with 0-1 long term conditions and living alone showed a higher risk of transitioning to live in a care home than individuals with 2-3 long term conditions living in two person households.</p><p><strong>Conclusions: </strong>In this study, the number of long term conditions was strongly associated with the risk of hospital admission and transition to living in a care home, and this association was less pronounced among those livi
目的:研究意外入院和过渡到养老院生活的风险如何随家庭规模的不同而变化。设计:回顾性队列研究。背景:2011年威尔士人口普查家庭数据,链接到威尔士安全匿名信息链接(SAIL)数据库,时间为2011年3月27日至2016年3月26日。参与者:2011年3月27日威尔士人口普查中记录的391 686名威尔士居民,年龄≥65岁,居住在一至六人的威尔士家庭中,在一名全科医生处注册,为SAIL数据库提供数据。主要结局指标:对于患有0-1、2-3或≥4个长期疾病的单独生活或有两名居民或三名或更多居民的家庭,首次计划外住院的时间和从社区家中生活过渡到养老院生活的时间。结果:在391 686名个体中,36.8%的个体独居,54.0%的个体两口之家,9.2%的个体三人或三人以上。长期疾病的数量与住院和转到养老院的风险密切相关。在二人家庭中,患有≥4种长期疾病的参与者与患有0-1种长期疾病的参与者相比,计划外住院的风险更高(调整风险比2.51,95%置信区间(CI) 2.47至2.55;粗事件率为180.1 (95% CI为178.5 - 181.7)v 54.8(53.9 - 55.7) / 1000人年)和过渡到养老院生活(调整后的风险比为2.57,2.49 - 2.66;粗事件率为7.2 (6.9 - 7.5)v 1.40(1.3 - 1.5) / 1000人年)。家庭规模与这两种结果的风险增加有关,但与过渡到养老院相比,意外住院的风险更大。意外住院的风险高的人长期0 - 1条件独自一人比那些住在一个两人家庭(调整风险比1.19,95%可信区间1.17到1.22;原油事件率74.9(95%可信区间73.4到76.4)v 54.8(53.9 - 55.7)每1000人年)和过渡到生活在一个疗养院(调整风险比1.48,1.42,1.54;原油事件率5.4 (5.0 - 5.8)v 1.4每1000人年)(1.3 - 1.5)。长期疾病的数量与两种结果之间的关系因家庭规模而异。患有0-1种长期疾病和独居的个体比患有2-3种长期疾病和两人家庭生活的个体过渡到住在养老院的风险更高。结论:在本研究中,长期疾病的数量与住院和过渡到养老院生活的风险密切相关,而这种关联在独居者中不太明显。有0-1个长期疾病独居者过渡到养老院生活的风险高于有2-3个长期疾病独居者。这些发现强调了个性化策略的必要性,这些策略可以减少意外入院的风险,支持独立生活,并考虑多种疾病的程度和家庭规模。
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引用次数: 0
Trends in hypertension prevalence, control, and antihypertensive use in England from 2003 to 2021: insights from annual, nationwide Health Surveys for England. 2003年至2021年英国高血压流行、控制和抗高血压药物使用趋势:来自英国年度全国性健康调查的见解
IF 1 Pub Date : 2025-11-27 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001556
Catherine Graham, James Steckelmacher, Jai Prashar, Ayesha Ahmed, Maxim Capel, Neil R Poulter, Peter Sedgwick Sever, Ajay Kumar Gupta

Objective: To determine the annual trends over two decades in hypertension diagnosis, true hypertension prevalence, and control and use of antihypertensive drugs in England.

Design: Annual, representative, nationwide Health Surveys for England from 2003 to 2021.

Setting: Nationally representative sample consisting of participants from private households, identified through stratified, national, multistage sampling.

Participants: 67 242 people older than 16 years surveyed between 2003 and 2021.

Results: Between 2003 and 2021, the prevalence of measured hypertension decreased significantly from 37.8% in 2003 to 33.2% in 2018 (average annual percentage change (AAPC) -0.9%, 95% confidence interval -1.6% to -0.6%). Mean population systolic and diastolic blood pressure decreased significantly between 2003 to 2019 (systolic blood pressure from 128.7 to 124.0 mm Hg, AAPC -0.15%, -0.21% to -0.11%; diastolic blood pressure from 73.7 to 71.8 mm Hg, AAPC -0.12%, -0.20% to -0.04%). The prevalence of those with undiagnosed hypertension in the community decreased from 32.6% in 2003 to 23.7% in 2011, gradually worsening thereafter, with a steep increase in 2021 when 32.4% of those with hypertension were undiagnosed (AAPC -1.04%, -1.92% to -0.22%). Among people diagnosed (known) with hypertension, the proportion of those with blood pressure controlled to target increased across the study period (AAPC 1.66%, 0.04% to 2.27%), but this was mainly driven by the significant increase from 47.3% in 2003 to 56.5% in 2009 (AAPC 3.62%, 1.52% to 5.74%). A plateau was observed from 2011 onwards when there was no further significant improvement in the proportion of people with diagnosed (known) hypertension and blood pressure controlled to target. People with diagnosed (known) but uncontrolled hypertension showed a small but significant decrease in the mean number (standard deviation) of antihypertensive drugs used during the study period from 2.17 (0.86) in 2003 to 2.14 (0.96) in 2021 (AAPC -0.18%, -0.68% to -0.03%). Those with diagnosed (known) and controlled hypertension had no significant change in the mean number of drugs used.

Conclusions: These findings indicate that there was a significant improvement in hypertension prevalence and control in the 2000s, with a plateau after 2011. The prevalence of undiagnosed hypertension in the community reduced in the early 2000s and 2010s, but has since returned to the same level as two decades ago.

目的:了解英国近20年来高血压诊断、真实高血压患病率、抗高血压药物的控制和使用的年度趋势。设计:2003年至2021年英国年度、有代表性的全国性健康调查。环境:由来自私人家庭的参与者组成的具有全国代表性的样本,通过分层、全国性、多阶段抽样确定。参与者:2003年至2021年间接受调查的16岁以上的67242人。结果:2003年至2021年,高血压测量患病率从2003年的37.8%显著下降至2018年的33.2%(平均年变化百分比(AAPC) -0.9%, 95%置信区间-1.6%至-0.6%)。2003年至2019年间,人群平均收缩压和舒张压显著下降(收缩压从128.7降至124.0 mm Hg, AAPC -0.15%, -0.21%至-0.11%;舒张压从73.7降至71.8 mm Hg, AAPC -0.12%, -0.20%至-0.04%)。社区未确诊高血压患病率从2003年的32.6%下降到2011年的23.7%,此后逐渐恶化,到2021年急剧上升,未确诊高血压患者占32.4% (AAPC -1.04%, -1.92%至-0.22%)。在确诊(已知)高血压患者中,血压控制在目标范围内的比例在研究期间有所增加(AAPC为1.66%,0.04%至2.27%),但这主要是由于血压从2003年的47.3%显著增加到2009年的56.5% (AAPC为3.62%,1.52%至5.74%)。从2011年开始观察到一个平台期,诊断(已知)高血压的人群比例没有进一步显著改善,血压控制在目标水平。诊断(已知)但未控制的高血压患者在研究期间使用降压药的平均数量(标准偏差)从2003年的2.17(0.86)减少到2021年的2.14 (0.96)(AAPC -0.18%, -0.68%至-0.03%),减少幅度虽小但显著。那些确诊(已知)并控制高血压的患者在平均用药数量上没有显著变化。结论:这些发现表明,在2000年代,高血压患病率和控制有了显著改善,2011年之后进入平台期。在21世纪初和2010年代,社区中未确诊的高血压患病率有所下降,但后来又回到了20年前的水平。
{"title":"Trends in hypertension prevalence, control, and antihypertensive use in England from 2003 to 2021: insights from annual, nationwide Health Surveys for England.","authors":"Catherine Graham, James Steckelmacher, Jai Prashar, Ayesha Ahmed, Maxim Capel, Neil R Poulter, Peter Sedgwick Sever, Ajay Kumar Gupta","doi":"10.1136/bmjmed-2025-001556","DOIUrl":"10.1136/bmjmed-2025-001556","url":null,"abstract":"<p><strong>Objective: </strong>To determine the annual trends over two decades in hypertension diagnosis, true hypertension prevalence, and control and use of antihypertensive drugs in England.</p><p><strong>Design: </strong>Annual, representative, nationwide Health Surveys for England from 2003 to 2021.</p><p><strong>Setting: </strong>Nationally representative sample consisting of participants from private households, identified through stratified, national, multistage sampling.</p><p><strong>Participants: </strong>67 242 people older than 16 years surveyed between 2003 and 2021.</p><p><strong>Results: </strong>Between 2003 and 2021, the prevalence of measured hypertension decreased significantly from 37.8% in 2003 to 33.2% in 2018 (average annual percentage change (AAPC) -0.9%, 95% confidence interval -1.6% to -0.6%). Mean population systolic and diastolic blood pressure decreased significantly between 2003 to 2019 (systolic blood pressure from 128.7 to 124.0 mm Hg, AAPC -0.15%, -0.21% to -0.11%; diastolic blood pressure from 73.7 to 71.8 mm Hg, AAPC -0.12%, -0.20% to -0.04%). The prevalence of those with undiagnosed hypertension in the community decreased from 32.6% in 2003 to 23.7% in 2011, gradually worsening thereafter, with a steep increase in 2021 when 32.4% of those with hypertension were undiagnosed (AAPC -1.04%, -1.92% to -0.22%). Among people diagnosed (known) with hypertension, the proportion of those with blood pressure controlled to target increased across the study period (AAPC 1.66%, 0.04% to 2.27%), but this was mainly driven by the significant increase from 47.3% in 2003 to 56.5% in 2009 (AAPC 3.62%, 1.52% to 5.74%). A plateau was observed from 2011 onwards when there was no further significant improvement in the proportion of people with diagnosed (known) hypertension and blood pressure controlled to target. People with diagnosed (known) but uncontrolled hypertension showed a small but significant decrease in the mean number (standard deviation) of antihypertensive drugs used during the study period from 2.17 (0.86) in 2003 to 2.14 (0.96) in 2021 (AAPC -0.18%, -0.68% to -0.03%). Those with diagnosed (known) and controlled hypertension had no significant change in the mean number of drugs used.</p><p><strong>Conclusions: </strong>These findings indicate that there was a significant improvement in hypertension prevalence and control in the 2000s, with a plateau after 2011. The prevalence of undiagnosed hypertension in the community reduced in the early 2000s and 2010s, but has since returned to the same level as two decades ago.</p>","PeriodicalId":72433,"journal":{"name":"BMJ medicine","volume":"4 1","pages":"e001556"},"PeriodicalIF":10.0,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12666190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. 评估新生儿筛查全基因组测序的挑战:一系列系统审查和为政策顾问提供证据的路线图。
IF 1 Pub Date : 2025-11-21 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001726
Karoline Freeman, Dylan Taylor, Jacqueline Dinnes, Corinna C A Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Naila Dracup, Rachel Court, Furqan Butt, Cristina Visintin, James R Bonham, David Elliman, Graham Shortland, Anne Mackie, Zosia Helena Miedzybrodzka, Sian Mair Morgan, Felicity Kate Boardman, Yemisi Takwoingi, Bethany Shinkins, Aileen Clarke, Sian Taylor-Phillips
<p><strong>Abstract: </strong></p><p><strong>Objective: </strong>To evaluate systematic review approaches to synthesising evidence for policy advisers who are considering whether to screen newborns for hundreds of rare diseases using whole genome sequencing.</p><p><strong>Design: </strong>Series of systematic reviews and roadmap for evidence generation for policy advisers.</p><p><strong>Data sources: </strong>Medline, Embase, Science Citation Index, Cochrane Library.</p><p><strong>Methods: </strong>200 conditions included in Genomics England's Generation Study were stratified into five groups and one condition randomly selected from each group using criteria designed to maximise variability and availability of data. 30 systematic reviews were undertaken (five conditions, six review questions) about penetrance, detection rate, accuracy, benefit of earlier treatment, and benefits and harms of screening for the five conditions (search from inception to November 2023). Results were synthesised and reviewer time recorded. Genomic studies of newborn screening cohorts that reported penetrance were systematically reviewed using a non-condition specific approach (search inception to January 2024). The conditions and genes selected for reporting by these studies were identified. ClinGen was explored for synthesising evidence. All approaches were assessed by considering review effort and level and quality of evidence.</p><p><strong>Results: </strong>The five conditions selected for systematic review were pyridoxine dependent epilepsy, heritable retinoblastoma, X linked hypophosphataemic rickets, familial haemophagocytic lymphohistiocytosis, and medium chain acyl-CoA dehydrogenase deficiency. 19 689 titles were screened and 268 papers included that addressed two of six research questions (detection rate and treatment benefit). No studies were identified for the remaining four research questions. Total reviewer time for five conditions was seven months. A team of five reviewers would take over 20 years to conduct similar reviews for 200 conditions. 10 published genomic studies of newborn screening cohorts were identified with a total of 76 268 newborns. The number of conditions screened for varied from 74 to 903, with low concordance (two of 1453 genes were included in all 10 studies). Selection of conditions was primarily based on clinical opinion. All studies reported and acted on genetic findings considered clinically significant, preventing collection of penetrance data.</p><p><strong>Conclusions: </strong>Current evidence synthesis methods are neither feasible nor fruitful to provide policy advisers like the UK National Screening Committee with the evidence needed to understand the benefits and harms of newborn screening for multiple conditions using whole genome sequencing because the evidence is not available to synthesise. Evidence should be created through studies that only report pathogenic variants to parents and clinicians where penetrance and exp
摘要:目的:为政策顾问考虑是否使用全基因组测序对新生儿进行数百种罕见病筛查,评估系统评价方法的综合证据。设计:一系列系统审查和路线图,为政策顾问提供证据。数据来源:Medline, Embase, Science Citation Index, Cochrane Library。方法:200个条件包括在英国基因组学的世代研究被分为五组和一个条件随机选择从每组使用设计的标准,以最大限度地提高可变性和数据的可用性。本研究进行了30项系统综述(5种情况,6个综述问题),涉及5种情况的外显率、检出率、准确性、早期治疗的益处以及筛查的利弊(检索自成立至2023年11月)。综合结果并记录审稿人时间。使用非条件特异性方法系统地回顾了报告外显率的新生儿筛查队列的基因组研究(搜索开始至2024年1月)。鉴定了这些研究报告所选择的条件和基因。ClinGen是为了合成证据而探索的。所有的方法都是通过考虑审查努力和证据的水平和质量来评估的。结果:入选系统评价的5种疾病分别是吡哆醇依赖性癫痫、遗传性视网膜母细胞瘤、X连锁低磷性佝偻病、家族性嗜血球性淋巴组织细胞增多症和中链酰基辅酶a脱氢酶缺乏症。筛选了19689篇论文,其中268篇论文涉及六个研究问题(检出率和治疗效益)中的两个问题。其余4个研究问题未找到相关研究。五种情况的总审稿时间为7个月。一个由五人组成的评审小组将花费20多年的时间对200种情况进行类似的评审。10项已发表的新生儿筛查队列基因组研究共涉及76268名新生儿。筛选的条件数量从74到903不等,一致性较低(1453个基因中有两个被纳入所有10项研究)。条件的选择主要基于临床意见。所有的研究报告和行动的遗传发现被认为具有临床意义,阻止外显率数据的收集。结论:目前的证据合成方法既不可行,也不富有成效,无法为英国国家筛查委员会等政策顾问提供所需的证据,以了解使用全基因组测序对多种疾病进行新生儿筛查的利弊,因为证据无法合成。应该通过只向父母和临床医生报告致病变异的研究来创造证据,其中外显率和表达性是通过经验证据而不是临床意见确定的。提出了未来证据生成的路线图,以强调对新证据生成的需求,并结合分阶段评估方法,重点关注具有高外显率和表达性证据的致病变异。注册:审核注册PROSPERO (CRD42023475529)。
{"title":"Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.","authors":"Karoline Freeman, Dylan Taylor, Jacqueline Dinnes, Corinna C A Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Naila Dracup, Rachel Court, Furqan Butt, Cristina Visintin, James R Bonham, David Elliman, Graham Shortland, Anne Mackie, Zosia Helena Miedzybrodzka, Sian Mair Morgan, Felicity Kate Boardman, Yemisi Takwoingi, Bethany Shinkins, Aileen Clarke, Sian Taylor-Phillips","doi":"10.1136/bmjmed-2025-001726","DOIUrl":"10.1136/bmjmed-2025-001726","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Abstract: &lt;/strong&gt;&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To evaluate systematic review approaches to synthesising evidence for policy advisers who are considering whether to screen newborns for hundreds of rare diseases using whole genome sequencing.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;Series of systematic reviews and roadmap for evidence generation for policy advisers.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Data sources: &lt;/strong&gt;Medline, Embase, Science Citation Index, Cochrane Library.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;200 conditions included in Genomics England's Generation Study were stratified into five groups and one condition randomly selected from each group using criteria designed to maximise variability and availability of data. 30 systematic reviews were undertaken (five conditions, six review questions) about penetrance, detection rate, accuracy, benefit of earlier treatment, and benefits and harms of screening for the five conditions (search from inception to November 2023). Results were synthesised and reviewer time recorded. Genomic studies of newborn screening cohorts that reported penetrance were systematically reviewed using a non-condition specific approach (search inception to January 2024). The conditions and genes selected for reporting by these studies were identified. ClinGen was explored for synthesising evidence. All approaches were assessed by considering review effort and level and quality of evidence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The five conditions selected for systematic review were pyridoxine dependent epilepsy, heritable retinoblastoma, X linked hypophosphataemic rickets, familial haemophagocytic lymphohistiocytosis, and medium chain acyl-CoA dehydrogenase deficiency. 19 689 titles were screened and 268 papers included that addressed two of six research questions (detection rate and treatment benefit). No studies were identified for the remaining four research questions. Total reviewer time for five conditions was seven months. A team of five reviewers would take over 20 years to conduct similar reviews for 200 conditions. 10 published genomic studies of newborn screening cohorts were identified with a total of 76 268 newborns. The number of conditions screened for varied from 74 to 903, with low concordance (two of 1453 genes were included in all 10 studies). Selection of conditions was primarily based on clinical opinion. All studies reported and acted on genetic findings considered clinically significant, preventing collection of penetrance data.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Current evidence synthesis methods are neither feasible nor fruitful to provide policy advisers like the UK National Screening Committee with the evidence needed to understand the benefits and harms of newborn screening for multiple conditions using whole genome sequencing because the evidence is not available to synthesise. Evidence should be created through studies that only report pathogenic variants to parents and clinicians where penetrance and exp","PeriodicalId":72433,"journal":{"name":"BMJ medicine","volume":"4 1","pages":"e001726"},"PeriodicalIF":10.0,"publicationDate":"2025-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12658509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145650089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Time to recognise the risks to patients after an eating disorder diagnosis. 是时候认识到饮食失调诊断后患者面临的风险了。
IF 1 Pub Date : 2025-11-18 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-002261
Ethan Nella, Jennifer Couturier
{"title":"Time to recognise the risks to patients after an eating disorder diagnosis.","authors":"Ethan Nella, Jennifer Couturier","doi":"10.1136/bmjmed-2025-002261","DOIUrl":"10.1136/bmjmed-2025-002261","url":null,"abstract":"","PeriodicalId":72433,"journal":{"name":"BMJ medicine","volume":"4 1","pages":"e002261"},"PeriodicalIF":10.0,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12636938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adverse outcomes in patients with a diagnosis of an eating disorder: primary care cohort study with linked secondary care and mortality records. 诊断为饮食失调的患者的不良后果:初级保健队列研究与相关的二级保健和死亡率记录
IF 1 Pub Date : 2025-11-18 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001438
Catharine Morgan, Matthew J Carr, Carolyn A Chew-Graham, Terence W O'Neill, Rachel Elvins, Nav Kapur, Roger T Webb, Darren M Ashcroft
<p><strong>Objective: </strong>To examine the short and long term adverse physical and mental health outcomes, all cause mortality, and natural and unnatural deaths in individuals with a diagnosis of an eating disorder compared with a matched cohort without these disorders.</p><p><strong>Design: </strong>Primary care cohort study with linked secondary care and mortality records.</p><p><strong>Setting: </strong>English primary care electronic health records from the Clinical Practice Research Datalink, linked to Hospital Episode Statistics for hospital records and the Office for National Statistics for mortality data, 1 January 1998 to 30 November 2018.</p><p><strong>Participants: </strong>24 709 patients, aged 10-44 years, with a diagnosis of an eating disorder, matched by age, sex, and general practice with up to 20 comparators without an eating disorder (n=493 001). Disorders examined were anorexia nervosa, bulimia nervosa, binge eating disorder, and all other types combined.</p><p><strong>Main outcome measures: </strong>Physical health conditions, mental health conditions, and mortality (all cause and cause specific). Hazard ratios and cumulative incidences were calculated to compare outcomes.</p><p><strong>Results: </strong>Individuals with eating disorders had substantially higher risks for coded adverse physical, mental health, and mortality outcomes. Within the first year after a diagnosis of an eating disorder, these individuals were six times more likely to develop renal failure (hazard ratio 6.0, 95% confidence interval (CI) 4.2 to 8.5; excess 15 events per 10 000 individuals, 95% CI 11 to 21) and nearly seven times more likely to develop liver disease (hazard ratio 6.7, 3.8 to 11.7; excess 6 per 10 000, 4 to 11). Risks were still increased after five years (hazard ratio for renal failure 2.6, 95% CI 2.0 to 3.4; hazard ratio for liver disease 3.7, 2.3 to 6.0), with cumulative excesses of 110 (95% CI 87 to 136) and 26 (17 to 39) per 10 000 individuals at 10 years for renal failure and liver disease, respectively. Mental health coded outcomes were markedly increased in the short term for depression (hazard ratio 7.3, 95% CI 6.6 to 8.1; excess 596 per 10 000 individuals, 95% CI 545 to 650) and self-harm (hazard ratio 9.4, 8.2 to 10.7; excess 309 per 10 000, 279 to 342) at one year. Mortality was also higher: within the first year, the risk of all cause mortality was more than fourfold (hazard ratio 4.6, 95% CI 3.1 to 7.0; excess 10 per 10 000 individuals, 95% CI 7 to 15) and was fivefold for unnatural deaths (hazard ratio 5.1, 2.2 to 11.9; excess 30 per 100 000, 13 to 61). Risks persisted beyond five years (hazard ratio 2.2, 95% CI 1.8 to 2.7 for all cause mortality; hazard ratio 3.2, 1.9 to 5.4 for unnatural deaths), corresponding to 43 (95% CI 33 to 54) excess all cause deaths per 10 000 individuals and 184 (125 to 262) excess unnatural deaths per 100 000 at five years. At 10 years, 95 (95% CI 75 to 118) excess all cause deaths per 10 00
目的:研究诊断为饮食失调的个体与无饮食失调的匹配队列相比的短期和长期不良身心健康结局、全因死亡率、自然和非自然死亡。设计:初级保健队列研究与关联的二级保健和死亡率记录。设置:1998年1月1日至2018年11月30日,来自临床实践研究数据链的英语初级保健电子健康记录与医院记录的医院事件统计和国家统计办公室的死亡率数据相关联。参与者:24709名年龄在10-44岁之间,诊断为饮食失调的患者,按年龄、性别和一般习惯匹配,最多有20名没有饮食失调的比较者(n= 493001)。检查的障碍包括神经性厌食症、神经性贪食症、暴食症和所有其他类型的综合。主要结果测量:身体健康状况、精神健康状况和死亡率(所有原因和具体原因)。计算风险比和累积发生率来比较结果。结果:饮食失调的个体在生理、心理健康和死亡率方面的风险更高。在诊断出饮食失调后的第一年,这些人发生肾衰竭的可能性增加了6倍(风险比6.0,95%可信区间(CI) 4.2至8.5;每1万人中超过15例,95% CI为11 - 21),发生肝脏疾病的可能性增加近7倍(风险比6.7,3.8 - 11.7;每1万人中超过6例,4 - 11)。5年后风险仍然增加(肾衰竭的风险比为2.6,95% CI为2.0 - 3.4;肝脏疾病的风险比为3.7,2.3 - 6.0),10年后肾衰竭和肝脏疾病的累积超过110 (95% CI为87 - 136)和26(17 - 39)/ 10000人。一年内,抑郁症(风险比7.3,95% CI 6.6 - 8.1;每10000人中超过596人,95% CI 545 - 650)和自残(风险比9.4,8.2 - 10.7;每10000人中超过309人,279 - 342)的心理健康编码结果在短期内显著增加。死亡率也较高:在第一年,全因死亡的风险超过4倍(风险比4.6,95% CI 3.1至7.0;每万人中超过10人,95% CI 7至15),非自然死亡的风险超过5倍(风险比5.1,2.2至11.9;每10万人中超过30人,13至61)。风险持续超过5年(全因死亡的风险比为2.2,95%可信区间为1.8至2.7;非自然死亡的风险比为3.2,1.9至5.4),对应于5年期间每1万人中有43人(95%可信区间为33至54)超额全因死亡,每10万人中有184人(125至262)超额非自然死亡。10年后,每1万人中发现95例(95% CI 75 - 118)非正常死亡,每10万人中发现341例(236 - 479)非正常死亡。自杀风险在第一年高出13.7倍(95%可信区间为4.8 - 38.8;每10万人中有24例额外死亡,95%可信区间为10 - 52),并且在10年后仍然增加(风险比为2.7,1.3 - 5.8),每10万人中有169例(103 - 266)额外死亡。结论:根据编码的初级保健数据诊断为饮食失调的个体更有可能记录到不良的身心健康结果,并且与年龄、性别和一般实践相匹配的没有饮食失调的个体相比,死亡率更高。这些发现强调了在饮食失调患者的管理中需要处理生理和心理健康方面的综合护理策略。
{"title":"Adverse outcomes in patients with a diagnosis of an eating disorder: primary care cohort study with linked secondary care and mortality records.","authors":"Catharine Morgan, Matthew J Carr, Carolyn A Chew-Graham, Terence W O'Neill, Rachel Elvins, Nav Kapur, Roger T Webb, Darren M Ashcroft","doi":"10.1136/bmjmed-2025-001438","DOIUrl":"10.1136/bmjmed-2025-001438","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To examine the short and long term adverse physical and mental health outcomes, all cause mortality, and natural and unnatural deaths in individuals with a diagnosis of an eating disorder compared with a matched cohort without these disorders.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;Primary care cohort study with linked secondary care and mortality records.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Setting: &lt;/strong&gt;English primary care electronic health records from the Clinical Practice Research Datalink, linked to Hospital Episode Statistics for hospital records and the Office for National Statistics for mortality data, 1 January 1998 to 30 November 2018.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants: &lt;/strong&gt;24 709 patients, aged 10-44 years, with a diagnosis of an eating disorder, matched by age, sex, and general practice with up to 20 comparators without an eating disorder (n=493 001). Disorders examined were anorexia nervosa, bulimia nervosa, binge eating disorder, and all other types combined.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcome measures: &lt;/strong&gt;Physical health conditions, mental health conditions, and mortality (all cause and cause specific). Hazard ratios and cumulative incidences were calculated to compare outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Individuals with eating disorders had substantially higher risks for coded adverse physical, mental health, and mortality outcomes. Within the first year after a diagnosis of an eating disorder, these individuals were six times more likely to develop renal failure (hazard ratio 6.0, 95% confidence interval (CI) 4.2 to 8.5; excess 15 events per 10 000 individuals, 95% CI 11 to 21) and nearly seven times more likely to develop liver disease (hazard ratio 6.7, 3.8 to 11.7; excess 6 per 10 000, 4 to 11). Risks were still increased after five years (hazard ratio for renal failure 2.6, 95% CI 2.0 to 3.4; hazard ratio for liver disease 3.7, 2.3 to 6.0), with cumulative excesses of 110 (95% CI 87 to 136) and 26 (17 to 39) per 10 000 individuals at 10 years for renal failure and liver disease, respectively. Mental health coded outcomes were markedly increased in the short term for depression (hazard ratio 7.3, 95% CI 6.6 to 8.1; excess 596 per 10 000 individuals, 95% CI 545 to 650) and self-harm (hazard ratio 9.4, 8.2 to 10.7; excess 309 per 10 000, 279 to 342) at one year. Mortality was also higher: within the first year, the risk of all cause mortality was more than fourfold (hazard ratio 4.6, 95% CI 3.1 to 7.0; excess 10 per 10 000 individuals, 95% CI 7 to 15) and was fivefold for unnatural deaths (hazard ratio 5.1, 2.2 to 11.9; excess 30 per 100 000, 13 to 61). Risks persisted beyond five years (hazard ratio 2.2, 95% CI 1.8 to 2.7 for all cause mortality; hazard ratio 3.2, 1.9 to 5.4 for unnatural deaths), corresponding to 43 (95% CI 33 to 54) excess all cause deaths per 10 000 individuals and 184 (125 to 262) excess unnatural deaths per 100 000 at five years. At 10 years, 95 (95% CI 75 to 118) excess all cause deaths per 10 00","PeriodicalId":72433,"journal":{"name":"BMJ medicine","volume":"4 1","pages":"e001438"},"PeriodicalIF":10.0,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12636977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145590048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nurse led telephonic palliative care versus specialty outpatient palliative care: pragmatic, randomised clinical trial. 护士主导的电话姑息治疗与专科门诊姑息治疗:实用的随机临床试验。
IF 1 Pub Date : 2025-11-12 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001392
Corita R Grudzen, Mara Flannery, Kaitlyn Van Allen, Allison Cuthel, Rebecca Liddicoat Yamarik, Audrey Tan, Susan E Cohen, Paige Comstock Barker, Abraham A Brody, Cheryl Herchek, Nina Siman, Keith S Goldfeld
<p><strong>Objective: </strong>To compare the effectiveness of nurse led telephonic palliative care versus specialty outpatient palliative care on quality of life, symptom burden, loneliness, and healthcare use, after attending the emergency department.</p><p><strong>Design: </strong>Pragmatic, randomised clinical trial.</p><p><strong>Setting: </strong>Emergency Medicine Palliative Care Access (EMPallA) randomised controlled trial enrolling participants from 18 emergency departments in 15 geographically diverse healthcare systems in nine US states, from 1 April 2018 to 30 June 2022.</p><p><strong>Participants: </strong>Of 39 254 eligible patients, 1283 adults who visited the emergency department, were aged ≥50 years, who spoke English or Spanish, and had advanced cancer or end stage organ failure, were randomised to receive nurse led telephonic palliative care (n=639) or specialty outpatient palliative care (n=644).</p><p><strong>Interventions: </strong>The nurse led telephonic palliative care arm consisted of weekly or biweekly calls over six months made by registered nurses certified in hospice and palliative care. For the specialty outpatient palliative care arm, patients had one visit each month for six months with a specialty trained hospice and palliative medicine provider.</p><p><strong>Main outcome measures: </strong>The primary outcome was change in patient reported quality of life at six months, measured by the Functional Assessment of Cancer Therapy-General (FACT-G) questionnaire. Secondary outcomes were change in symptom burden and patient reported loneliness after six months, and healthcare use, measured as the number of emergency department revisits, inpatient days, and hospice use, from enrolment to 12 months.</p><p><strong>Results: </strong>639 patients were assigned to nurse telephonic services and 434 (68%) engaged in care until death, or until they required hospice services or graduated from the programme. For specialty outpatient palliative care, 644 patients were assigned and 344 (53%) attended one or more visits, with an average of 2.7 visits. The mean change in FACT-G scores over six months for the nurse telephonic arm (n=418) was 3.7 (95% confidence interval (CI) 2.3 to 5.1) points compared with 3.1 (1.6 to 4.6) for those in the specialty outpatient care arm (n=409). In the model including all patients who survived to six months (n=1090), the estimated difference in average change in quality of life was 0.71 (95% CI -1.19 to 2.61) points higher in the nurse led telephonic palliative care arm. The analysis did not show any clinically meaningful differences in the change in quality of life between the treatment arms. Also, no important differences between groups were found for secondary outcomes or in subgroup analyses.</p><p><strong>Conclusions: </strong>The results of the study provided no clear evidence that nurse led telephonic palliative care improved quality of life, or any secondary outcomes, relative to specialty out
目的:比较护士主导的电话姑息治疗与专科门诊姑息治疗在急诊科就诊后的生活质量、症状负担、孤独感和医疗保健使用方面的效果。设计:实用的随机临床试验。环境:从2018年4月1日至2022年6月30日,急诊医学姑息治疗准入(EMPallA)随机对照试验招募了来自美国9个州15个地理位置不同的医疗保健系统的18个急诊科的参与者。参与者:在39254名符合条件的患者中,1283名到急诊科就诊的成年人,年龄≥50岁,会说英语或西班牙语,患有晚期癌症或终末期器官衰竭,被随机分配接受护士主导的电话姑息治疗(n=639)或专科门诊姑息治疗(n=644)。干预措施:护士主导的电话姑息治疗组由在临终关怀和姑息治疗方面获得认证的注册护士在六个月内每周或每两周进行一次电话治疗。对于专业门诊姑息治疗组,患者在六个月内每月与经过专业培训的临终关怀和姑息治疗提供者进行一次访问。主要结果测量:主要结果是患者报告的6个月生活质量的变化,通过癌症治疗功能评估(FACT-G)问卷测量。次要结局是6个月后症状负担和患者报告的孤独感的变化,以及从入组到12个月的医疗保健使用,以急诊科就诊次数、住院天数和临终关怀使用来衡量。结果:639名患者被分配到护士电话服务,434名(68%)患者从事护理直到死亡,或直到他们需要临终关怀服务或从该计划毕业。对于专科门诊姑息治疗,644名患者被分配,344名(53%)参加了一次或多次就诊,平均为2.7次就诊。电话护理组(n=418)六个月内FACT-G评分的平均变化为3.7(95%置信区间(CI) 2.3至5.1)点,而专科门诊护理组(n=409)为3.1(1.6至4.6)点。在包括所有存活至6个月的患者(n=1090)的模型中,护士主导的电话姑息治疗组的生活质量平均变化估计差异为0.71 (95% CI -1.19至2.61)点。分析没有显示治疗组之间在生活质量变化方面有任何临床意义的差异。此外,在次要结果或亚组分析中,各组之间没有发现重要差异。结论:研究结果没有提供明确的证据表明,相对于专科门诊姑息治疗,护士主导的电话姑息治疗改善了生活质量,或任何次要结果。试验注册:ClinicalTrials.gov NCT03325985。
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引用次数: 0
Factors associated with: problems of using exploratory multivariable regression to identify causal risk factors. 相关因素:使用探索性多变量回归识别因果风险因素的问题。
IF 1 Pub Date : 2025-10-27 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001375
Dan Lewer, Thomas Brothers, Elizabeth O'Nions, John Pickavance
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引用次数: 0
High risk human papillomavirus versus cytological screening over two rounds in Finnish screening programme for cervical cancer: population based cohort study. 高危人乳头瘤病毒与细胞学筛查在两轮芬兰宫颈癌筛查方案:基于人群的队列研究。
IF 1 Pub Date : 2025-10-05 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001435
Iiris Juulia Turunen, Ilkka Kalliala, Maiju Pankakoski, Veli-Matti Partanen

Objective: To compare routine high risk human papillomavirus (hrHPV) screening with cytological screening in two screening rounds in a well established, routine screening programme for cervical cancer.

Design: Population based cohort study.

Setting: Finland's Mass Screening Registry, 2012-22, with diagnostic follow-up examinations until October 2024.

Participants: 1 180 491 women participating at least once in cytological test (PAP smear) or hrHPV based cervical cancer screening between 2012 and 2022.

Main outcome measures: Numbers and proportions of attendees, positive routine test results, follow-up screening referrals, colposcopy referrals, and incidence of cervical intraepithelial neoplasia ≥grade 2 (CIN2+) in the first and second hrHPV and cytological screening rounds. Results adjusted for age, year, region, and education.

Results: Data for 1 574 688 full screening rounds were analysed. The overall referral rate for colposcopy was 3.37% (n=12 273) in the hrHPV group and 0.98% (n=11 895) in the cytology group, with an adjusted risk ratio of 2.97 (95% confidence interval (CI) 2.87 to 3.07). The overall rate for detection of CIN2+ was 0.92% in the hrHPV group and 0.35% in the cytology group, with an adjusted risk ratio of 2.17 (2.04 to 2.31). For the second hrHPV screening round compared with the first screening round, the adjusted risk ratio was 0.77 (0.71 to 0.84) for referral for colposcopy and 0.57 (0.46 to 0.72) for detection of CIN2+. Actual rates for referral for colposcopy were 3.54% (n=11 709) in the first hrHPV screening round and 2.42% (n=564) in the second screening round. The rate for detection of CIN2+ for hrHPV screening was 0.98% (n=3 248) in the first hrHPV screening round and 0.38% (n=88) in the second screening round. In cytological screening, no observed reduction was seen in either the referral rate or CIN2+ findings. After a negative hrHPV test in the first screening round, CIN2+ was detected in only 0.2% of women (n=44/314 286) in the second screening round.

Conclusions: Within a well established, population based national screening programme, the results of the study indicated that hrHPV screening with a five year interval was effective and safe. hrHPV screening identified precancerous lesions earlier than cytological screening. The incidence of CIN2+ was low in the second screening round in women with a negative hrHPV test result in the initial round and in those aged ≥50 years, and hence a longer screening interval for specific subgroups should be considered.

目的:在一个完善的宫颈癌常规筛查方案中,比较常规高危人乳头瘤病毒(hrHPV)筛查与细胞学筛查两轮筛查。设计:基于人群的队列研究。背景:2012-22年芬兰大规模筛查登记,诊断随访检查至2024年10月。参与者:1180491名女性在2012年至2022年间至少参加过一次细胞学检查(PAP涂片)或基于hrHPV的宫颈癌筛查。主要结局指标:参加人数和比例,阳性常规检查结果,随访筛查转诊,阴道镜转诊,第一轮和第二轮hrHPV和细胞学筛查中宫颈上皮内瘤变≥2级(CIN2+)的发生率。结果根据年龄、年份、地区和教育程度进行了调整。结果:分析了1 574 688个全筛查轮的数据。hrHPV组阴道镜检查的总转诊率为3.37% (n=12 273),细胞学组为0.98% (n=11 895),调整后的风险比为2.97(95%可信区间(CI) 2.87 ~ 3.07)。hrHPV组CIN2+检出率为0.92%,细胞学组CIN2+检出率为0.35%,校正风险比为2.17(2.04 ~ 2.31)。与第一轮筛查相比,第二轮hrHPV筛查转诊阴道镜的调整风险比为0.77(0.71至0.84),CIN2+检测的调整风险比为0.57(0.46至0.72)。在第一轮hrHPV筛查中,阴道镜的实际转诊率为3.54% (n=11 709),在第二轮筛查中为2.42% (n=564)。hrHPV第一轮筛查CIN2+检出率为0.98% (n=3 248),第二轮筛查CIN2+检出率为0.38% (n=88)。在细胞学筛查中,没有观察到转诊率或CIN2+结果的降低。在第一轮筛查中hrHPV检测呈阴性后,在第二轮筛查中只有0.2%的女性(n=44/314 286)检测到CIN2+。结论:在一个完善的、以人群为基础的国家筛查计划中,研究结果表明,每5年一次的hrHPV筛查是有效和安全的。hrHPV筛查比细胞学筛查更早发现癌前病变。在第一轮hrHPV检测结果为阴性的妇女和年龄≥50岁的妇女中,CIN2+的发病率在第二轮筛查中较低,因此应考虑对特定亚组进行更长的筛查间隔。
{"title":"High risk human papillomavirus versus cytological screening over two rounds in Finnish screening programme for cervical cancer: population based cohort study.","authors":"Iiris Juulia Turunen, Ilkka Kalliala, Maiju Pankakoski, Veli-Matti Partanen","doi":"10.1136/bmjmed-2025-001435","DOIUrl":"10.1136/bmjmed-2025-001435","url":null,"abstract":"<p><strong>Objective: </strong>To compare routine high risk human papillomavirus (hrHPV) screening with cytological screening in two screening rounds in a well established, routine screening programme for cervical cancer.</p><p><strong>Design: </strong>Population based cohort study.</p><p><strong>Setting: </strong>Finland's Mass Screening Registry, 2012-22, with diagnostic follow-up examinations until October 2024.</p><p><strong>Participants: </strong>1 180 491 women participating at least once in cytological test (PAP smear) or hrHPV based cervical cancer screening between 2012 and 2022.</p><p><strong>Main outcome measures: </strong>Numbers and proportions of attendees, positive routine test results, follow-up screening referrals, colposcopy referrals, and incidence of cervical intraepithelial neoplasia ≥grade 2 (CIN2+) in the first and second hrHPV and cytological screening rounds. Results adjusted for age, year, region, and education.</p><p><strong>Results: </strong>Data for 1 574 688 full screening rounds were analysed. The overall referral rate for colposcopy was 3.37% (n=12 273) in the hrHPV group and 0.98% (n=11 895) in the cytology group, with an adjusted risk ratio of 2.97 (95% confidence interval (CI) 2.87 to 3.07). The overall rate for detection of CIN2+ was 0.92% in the hrHPV group and 0.35% in the cytology group, with an adjusted risk ratio of 2.17 (2.04 to 2.31). For the second hrHPV screening round compared with the first screening round, the adjusted risk ratio was 0.77 (0.71 to 0.84) for referral for colposcopy and 0.57 (0.46 to 0.72) for detection of CIN2+. Actual rates for referral for colposcopy were 3.54% (n=11 709) in the first hrHPV screening round and 2.42% (n=564) in the second screening round. The rate for detection of CIN2+ for hrHPV screening was 0.98% (n=3 248) in the first hrHPV screening round and 0.38% (n=88) in the second screening round. In cytological screening, no observed reduction was seen in either the referral rate or CIN2+ findings. After a negative hrHPV test in the first screening round, CIN2+ was detected in only 0.2% of women (n=44/314 286) in the second screening round.</p><p><strong>Conclusions: </strong>Within a well established, population based national screening programme, the results of the study indicated that hrHPV screening with a five year interval was effective and safe. hrHPV screening identified precancerous lesions earlier than cytological screening. The incidence of CIN2+ was low in the second screening round in women with a negative hrHPV test result in the initial round and in those aged ≥50 years, and hence a longer screening interval for specific subgroups should be considered.</p>","PeriodicalId":72433,"journal":{"name":"BMJ medicine","volume":"4 1","pages":"e001435"},"PeriodicalIF":10.0,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12506145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inequalities in hormone replacement therapy prescribing in UK primary care: population based cohort study. 英国初级保健中激素替代疗法处方的不平等:基于人群的队列研究。
IF 1 Pub Date : 2025-09-25 eCollection Date: 2025-01-01 DOI: 10.1136/bmjmed-2025-001349
Jennifer A Hirst, Wema Meranda Mtika, Carol Coupland, Sharon Dixon, Julia Hippisley-Cox, Sarah Hillman

Objective: To quantify prescribing of hormone replacement therapy (HRT) in women aged 40-60 years by type of HRT and length of use, and to determine sociodemographic factors associated with receiving a HRT prescription.

Design: Population based cohort study.

Setting: QResearch database of primary care practices in England, 1 January 2013 to 13 July 2023, and patient electronic health records for prescribing information .

Participants: 1 978 348 women aged 40-60 years at any time over a 10 year period.

Main outcome measures: Overall uptake of two or more prescriptions of the same type of HRT in women of menopausal age, length of use, and association between ethnic group, deprivation, and geographical region and receiving a HRT prescription before and during the eight years since implementation of National Institute for Health and Care Excellence (NICE) guidance on the menopause in 2015 in the UK.

Results: The cohort comprised 1 978 348 women with a mean age of 49.4 years, and 76.2% were white women. Overall, 379 911 (19.2%) women received two or more HRT prescriptions. Combination HRT formulations in one prescription were the most frequently prescribed (62.4% of those prescribed HRT), with 43.3% receiving oral and 26.3% transdermal formulations. Mean age at first prescription was 49.8 years. Rates for two or more prescriptions of HRT were higher in white women (22.6%) than in other ethnic groups, ranging from 8.9% in Caribbean women to 3.9% in black African women. Prescription rates decreased with increasing social deprivation, from 24.2% in the most affluent to 10.9% in the most deprived groups. London had lower prescription rates (11.7%) than other regions (all >19%). Multivariable Cox regression showed that non-white ethnic groups had significantly lower HRT prescription rates (hazard ratios 0.85-0.92, P<0.001), and each increase in social deprivation group was associated with lower HRT prescription rates (hazard ratio for the most deprived group 0.92, 95% confidence interval 0.92 to 0.93, P<0.001).

Conclusions: This study identified differences in HRT prescribing in England based on ethnic group, socioeconomic status, and geographical location. White women and those in more affluent neighbourhoods were more likely to receive HRT than non-white women and those in more deprived areas. These findings suggest potential inequities that require further exploration.

目的:量化40-60岁女性激素替代疗法(HRT)的处方类型和使用时间,并确定与接受HRT处方相关的社会人口学因素。设计:基于人群的队列研究。设置:2013年1月1日至2023年7月13日英格兰初级保健实践的QResearch数据库,以及用于处方信息的患者电子健康记录。参与者:1978 348名年龄在40-60岁之间的女性,时间跨度为10年。主要结局指标:自2015年英国实施国家健康与护理卓越研究所(NICE)绝经指南以来的八年中,绝经年龄、使用时间、种族、剥夺和地理区域之间的关联以及接受HRT处方的两种或两种以上相同类型HRT处方的总体情况。结果:该队列包括1978 348名女性,平均年龄49.4岁,其中76.2%为白人女性。总体而言,379911名(19.2%)女性接受了两种或两种以上的激素替代疗法处方。联合HRT处方是最常见的处方(占处方HRT的62.4%),其中43.3%接受口服,26.3%接受透皮配方。首次处方的平均年龄为49.8岁。白人妇女服用两次或两次以上激素替代疗法的比率(22.6%)高于其他种族,从加勒比妇女的8.9%到非洲黑人妇女的3.9%不等。处方率随着社会剥夺程度的增加而下降,从最富裕人群的24.2%降至最贫困人群的10.9%。伦敦的处方率(11.7%)低于其他地区(所有地区均为19%)。多变量Cox回归分析显示,非白种人的HRT处方率显著低于白种人(风险比0.85-0.92,p)。结论:本研究确定了英国HRT处方在种族、社会经济地位和地理位置上的差异。白人妇女和生活在较富裕社区的妇女比非白人妇女和生活在较贫困地区的妇女更有可能接受激素替代疗法。这些发现表明,潜在的不平等需要进一步探索。
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引用次数: 0
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BMJ medicine
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