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Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review 关于撒哈拉以南非洲疟疾的全基因组关联研究:范围审查
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311829
M. Akoth, J. Odhiambo, B. Omolo
Background: Malaria remains one of the leading causes of death in Sub-Saharan Africa (SSA). The scoping review mapped evidence in research on existing studies on malaria genome-wide association studies (GWAS) in SSA. Methods: A scoping review was conducted to investigate the extent of malaria studies in SSA under GWAS. The review followed the methodology for scoping reviews developed by Arksey and OMalley, including identification of research problems, searching for relevant studies, selecting studies, charting data, collating, summarizing, and reporting the findings. Data from relevant studies were collected and synthesized using Excel and Zotero software. The data collected included information on the author, the years of study, the countries of study, the research areas of interest, and the study designs used. Results: Of an initial pool of over 2000 articles retrieved from four databases, namely Google Scholar, PubMed, Scopus, and Web of Science, 569 were retained. After applying the inclusion-exclusion criteria, 99 articles were found to be relevant. Most of these studies (n=25, 60%) used a case-control study design, while the rest used cross-sectional, cohort, longitudinal, family-based, and retrospective designs. These studies were conducted between 2000 and 2023, with a significant increase observed in 2011. Most studies were carried out in Kenya (n = 25), Gambia (n = 17), Cameroon (n = 15), Ghana (n = 12), and Tanzania (n=11), primarily exploring genetic variants associated with malaria susceptibility, resistance, and severity. Conclusion: Many case-control studies in Kenya and Gambia reported genetic variants in malaria susceptibility, resistance, and severity. Few articles were systematic reviews and scoping reviews. GWAS on malaria is scarce in SSA and even fewer studies are model-based. Consequently, there is a pressing need for more genome-wide research on malaria in SSA.
背景:疟疾仍然是撒哈拉以南非洲地区(SSA)的主要死因之一。此次范围界定审查对撒哈拉以南非洲现有的疟疾全基因组关联研究(GWAS)的研究证据进行了摸底。方法:进行了一次范围界定审查,以调查撒哈拉以南非洲地区在全基因组关联研究 (GWAS) 项下开展的疟疾研究的范围。综述遵循 Arksey 和 OMalley 制定的范围综述方法,包括确定研究问题、搜索相关研究、选择研究、绘制数据图表、整理、总结和报告研究结果。我们使用 Excel 和 Zotero 软件收集并综合了相关研究的数据。收集的数据包括作者信息、研究年限、研究国家、感兴趣的研究领域以及使用的研究设计。结果:从 Google Scholar、PubMed、Scopus 和 Web of Science 四个数据库中检索到 2000 多篇文章,其中 569 篇被保留下来。在应用了纳入-排除标准后,发现有 99 篇文章是相关的。其中大部分研究(25 篇,占 60%)采用病例对照研究设计,其余研究采用横断面研究、队列研究、纵向研究、基于家庭的研究和回顾性研究设计。这些研究是在 2000 年至 2023 年间进行的,2011 年的研究显著增加。大多数研究在肯尼亚(25 例)、冈比亚(17 例)、喀麦隆(15 例)、加纳(12 例)和坦桑尼亚(11 例)进行,主要探讨与疟疾易感性、抗药性和严重性相关的基因变异。结论肯尼亚和冈比亚的许多病例对照研究报告了疟疾易感性、抗药性和严重程度的遗传变异。很少有文章是系统综述和范围综述。在撒哈拉以南非洲地区,有关疟疾的全球基因组研究很少,基于模型的研究更少。因此,急需对撒哈拉以南非洲地区的疟疾进行更多的全基因组研究。
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引用次数: 0
Genome-wide association study of COVID-19 Breakthrough Infections and genetic overlap with other diseases: A study of the UK Biobank COVID-19 突破性感染的全基因组关联研究以及与其他疾病的基因重叠:英国生物库研究
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311845
Yaning Feng, Kenneth Chi-Yin, Wong, Wai Kai Tsui, Ruoyu Zhang, Yong XIANG, SO Hon-Cheong, Lo
Background: The COVID-19 pandemic has led to substantial health and financial burden worldwide, and vaccines provide hope to reduce the burden of this pandemic. However, vaccinated people remain at risk for SARS-CoV-2 infection. Genome-wide association studies (GWAS) may allow for the identification of potential genetic factors involved in the development of COVID-19 breakthrough infections (BI), however very few or no GWAS have been conducted for COVID-19 BI so far. Methods: We conducted a GWAS and detailed bioinformatics analysis on COVID-19 BI in a European population based on the UK-Biobank (UKBB). We conducted a series of analyses at different levels, including SNP-based, gene-based, pathway, and transcriptome-wide association analyses, to investigate genetic factors associated with COVID-19 BI and hospitalized infection. Polygenic risk score (PRS) and Hoeffding's test were performed to reveal genetic relationships between BI and other medical conditions. Results: Two independent loci (LD-clumped at r2=0.01) reached genome-wide significance (p<5e-08), including rs36170929 mapped to LOC102725191/VWDE, and rs28645263 mapped to RETREG1. Pathway enrichment analysis highlighted pathways such as viral myocarditis, Rho-selective guanine exchange factor AKAP13 signaling, and lipid metabolism. PRS analyses showed significant genetic overlap between COVID-19 BI and heart failure, HbA1c and type 1 diabetes. Genetic dependence was also observed between COVID-19 BI and asthma, lung abnormalities, schizophrenia, and type 1 diabetes, based on the Hoeffding's test. Conclusions: This GWAS study revealed two significant loci that may be associated with COVID-19 BI, and a number of genes and pathways that may be involved in BI. Genetic overlap with other diseases was identified. Further studies are warranted to replicate the findings and elucidate the mechanisms involved.
背景:COVID-19 大流行给全世界带来了巨大的健康和经济负担,而疫苗则为减轻这一流行病的负担带来了希望。然而,接种过疫苗的人仍有感染 SARS-CoV-2 的风险。全基因组关联研究(GWAS)可能有助于确定与 COVID-19 突发性感染(BI)发生有关的潜在遗传因素,但迄今为止,针对 COVID-19 BI 的 GWAS 研究很少或根本没有。方法:我们以英国生物库(UKBB)为基础,在欧洲人群中对 COVID-19 BI 进行了 GWAS 和详细的生物信息学分析。我们进行了一系列不同层次的分析,包括基于 SNP、基于基因、通路和转录组的关联分析,以研究与 COVID-19 BI 和住院感染相关的遗传因素。此外,还进行了多基因风险评分(PRS)和Hoeffding检验,以揭示BI与其他疾病之间的遗传关系。结果显示两个独立位点(LD-clumped at r2=0.01)达到了全基因组显著性(p<5e-08),包括映射到 LOC102725191/VWDE 的 rs36170929 和映射到 RETREG1 的 rs28645263。通路富集分析突出了病毒性心肌炎、Rho-选择性鸟嘌呤交换因子 AKAP13 信号转导和脂质代谢等通路。PRS 分析显示,COVID-19 BI 与心力衰竭、HbA1c 和 1 型糖尿病之间存在明显的遗传重叠。根据 Hoeffding 检验,还观察到 COVID-19 BI 与哮喘、肺部异常、精神分裂症和 1 型糖尿病之间存在遗传依赖性。结论这项基因组学分析研究发现了两个可能与 COVID-19 BI 相关的重要基因位点,以及一些可能与 BI 相关的基因和通路。研究还发现了与其他疾病的基因重叠。有必要开展进一步研究,以复制研究结果并阐明相关机制。
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引用次数: 0
Genome-wide association studies on malaria in Sub-Saharan Africa: a scoping review 关于撒哈拉以南非洲疟疾的全基因组关联研究:范围审查
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311829
M. Akoth, J. Odhiambo, B. Omolo
Background: Malaria remains one of the leading causes of death in Sub-Saharan Africa (SSA). The scoping review mapped evidence in research on existing studies on malaria genome-wide association studies (GWAS) in SSA. Methods: A scoping review was conducted to investigate the extent of malaria studies in SSA under GWAS. The review followed the methodology for scoping reviews developed by Arksey and OMalley, including identification of research problems, searching for relevant studies, selecting studies, charting data, collating, summarizing, and reporting the findings. Data from relevant studies were collected and synthesized using Excel and Zotero software. The data collected included information on the author, the years of study, the countries of study, the research areas of interest, and the study designs used. Results: Of an initial pool of over 2000 articles retrieved from four databases, namely Google Scholar, PubMed, Scopus, and Web of Science, 569 were retained. After applying the inclusion-exclusion criteria, 99 articles were found to be relevant. Most of these studies (n=25, 60%) used a case-control study design, while the rest used cross-sectional, cohort, longitudinal, family-based, and retrospective designs. These studies were conducted between 2000 and 2023, with a significant increase observed in 2011. Most studies were carried out in Kenya (n = 25), Gambia (n = 17), Cameroon (n = 15), Ghana (n = 12), and Tanzania (n=11), primarily exploring genetic variants associated with malaria susceptibility, resistance, and severity. Conclusion: Many case-control studies in Kenya and Gambia reported genetic variants in malaria susceptibility, resistance, and severity. Few articles were systematic reviews and scoping reviews. GWAS on malaria is scarce in SSA and even fewer studies are model-based. Consequently, there is a pressing need for more genome-wide research on malaria in SSA.
背景:疟疾仍然是撒哈拉以南非洲地区(SSA)的主要死因之一。此次范围界定审查对撒哈拉以南非洲现有的疟疾全基因组关联研究(GWAS)的研究证据进行了摸底。方法:进行了一次范围界定审查,以调查撒哈拉以南非洲地区在全基因组关联研究 (GWAS) 项下开展的疟疾研究的范围。综述遵循 Arksey 和 OMalley 制定的范围综述方法,包括确定研究问题、搜索相关研究、选择研究、绘制数据图表、整理、总结和报告研究结果。我们使用 Excel 和 Zotero 软件收集并综合了相关研究的数据。收集的数据包括作者信息、研究年限、研究国家、感兴趣的研究领域以及使用的研究设计。结果:从 Google Scholar、PubMed、Scopus 和 Web of Science 四个数据库中检索到 2000 多篇文章,其中 569 篇被保留下来。在应用了纳入-排除标准后,发现有 99 篇文章是相关的。其中大部分研究(25 篇,占 60%)采用病例对照研究设计,其余研究采用横断面研究、队列研究、纵向研究、基于家庭的研究和回顾性研究设计。这些研究是在 2000 年至 2023 年间进行的,2011 年的研究显著增加。大多数研究在肯尼亚(25 例)、冈比亚(17 例)、喀麦隆(15 例)、加纳(12 例)和坦桑尼亚(11 例)进行,主要探讨与疟疾易感性、抗药性和严重性相关的基因变异。结论肯尼亚和冈比亚的许多病例对照研究报告了疟疾易感性、抗药性和严重程度的遗传变异。很少有文章是系统综述和范围综述。在撒哈拉以南非洲地区,有关疟疾的全球基因组研究很少,基于模型的研究更少。因此,急需对撒哈拉以南非洲地区的疟疾进行更多的全基因组研究。
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引用次数: 0
Generative Large Language Models in Electronic Health Records for Patient Care Since 2023: A Systematic Review 2023 年以来电子健康记录中用于患者护理的生成式大型语言模型:系统回顾
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311828
Xinsong Du, Zhengyang Zhou, Yifei Wang, Ya-Wen Chuang, Richard Yang, Wenyu Zhang, Xinyi Wang, Rui Zhang, Pengyu Hong, David W. Bates, Li Zhou
Background: Generative Large language models (LLMs) represent a significant advancement in natural language processing, achieving state-of-the-art performance across various tasks. However, their application in clinical settings using real electronic health records (EHRs) is still rare and presents numerous challenges. Objective: This study aims to systematically review the use of generative LLMs in patient care-related topics involving EHRs, summarize the challenges faced, and suggest future directions. Methods: A Boolean search for peer-reviewed articles was conducted in May 2024 using PubMed and Web of Science to include research articles published since 2023, which was one month after the release of ChatGPT. The search results were deduplicated. Multiple reviewers, including biomedical informaticians, computer scientists, and a physician, screened the publications for eligibility and extracted bibliometric and clinically relevant information. Only papers utilizing generative LLMs to analyze real EHR data were included. We summarized the use of prompt engineering, fine-tuning, multimodal EHR data, and evaluation matrices. Additionally, we identified current challenges in applying LLMs in clinical settings as reported by the included papers and proposed future directions. Results: The initial search identified 6,328 unique studies, with 76 studies included after eligibility screening. Of these, 67 studies (88.2%) employed zero-shot prompting, five of them reported 100% accuracy on five specific clinical tasks. Nine studies used advanced prompting strategies; four tested these strategies experimentally, finding that prompt engineering improved performance, with one study noting a non-linear relationship between the number of examples in a prompt and performance improvement. Eight studies explored fine-tuning generative LLMs, all reported performance improvements on specific tasks, but three of them noted potential performance degradation after fine-tuning on certain tasks. Only two studies utilized multimodal data, which improved LLM-based decision-making and enabled accurate rare disease diagnosis and prognosis. The studies employed 55 different evaluation metrics for 22 purposes, such as correctness, completeness, and conciseness. Two studies investigated LLM bias, with one detecting no bias and the other finding that male patients received more appropriate clinical decision-making suggestions. Six studies identified hallucinations, such as fabricating patient names in structured thyroid ultrasound reports. Additional challenges included but not limited to the impersonal tone of LLM consultations, which made patients uncomfortable, and the difficulty patients had in understanding LLM responses. Conclusion: Our review indicates that few studies have employed advanced computational techniques to enhance LLM performance. The diverse evaluation metrics used highlight the need for standardization. LLMs currently cannot replace physicians due to cha
背景:生成式大语言模型(LLMs)是自然语言处理领域的一大进步,在各种任务中都能实现最先进的性能。然而,在使用真实电子健康记录(EHR)的临床环境中应用 LLMs 仍然非常罕见,并面临诸多挑战。研究目的本研究旨在系统回顾生成式 LLM 在涉及电子健康记录的患者护理相关主题中的应用,总结面临的挑战,并提出未来的发展方向。研究方法在 2024 年 5 月使用 PubMed 和 Web of Science 对同行评审文章进行了布尔搜索,以纳入自 2023 年(即 ChatGPT 发布一个月后)以来发表的研究文章。搜索结果经过重复处理。包括生物医学信息学家、计算机科学家和一名医生在内的多名审稿人筛选了符合条件的出版物,并提取了文献计量学和临床相关信息。只有利用生成式 LLM 分析真实电子病历数据的论文才被收录。我们总结了提示工程、微调、多模态 EHR 数据和评估矩阵的使用情况。此外,我们还指出了目前在临床环境中应用 LLMs 所面临的挑战,并提出了未来的发展方向。结果:初步检索发现了 6,328 项独特的研究,经过资格筛选后纳入了 76 项研究。其中,67 项研究(88.2%)采用了零镜头提示,其中 5 项研究报告了 5 项特定临床任务的 100% 准确率。九项研究采用了先进的提示策略;四项研究对这些策略进行了实验测试,发现提示工程提高了绩效,其中一项研究指出提示中的示例数量与绩效提高之间存在非线性关系。八项研究对生成式 LLM 进行了微调,所有研究都报告了在特定任务上的成绩提高,但其中三项研究指出,在某些任务上微调后,成绩可能会下降。只有两项研究利用了多模态数据,从而改进了基于 LLM 的决策,实现了罕见病的准确诊断和预后。这些研究针对 22 个目的采用了 55 种不同的评价指标,如正确性、完整性和简洁性。有两项研究调查了 LLM 的偏差,其中一项研究没有发现偏差,另一项研究发现男性患者获得了更合适的临床决策建议。六项研究发现了幻觉,如在结构化甲状腺超声报告中捏造患者姓名。其他挑战包括但不限于:LLM 咨询的语气缺乏人情味,这让患者感到不舒服,以及患者难以理解 LLM 的回答。结论:我们的回顾表明,很少有研究采用先进的计算技术来提高 LLM 的性能。所使用的评价指标也各不相同,这凸显了标准化的必要性。由于存在偏差、幻觉和非个性化回答等挑战,LLM 目前还不能取代医生。
{"title":"Generative Large Language Models in Electronic Health Records for Patient Care Since 2023: A Systematic Review","authors":"Xinsong Du, Zhengyang Zhou, Yifei Wang, Ya-Wen Chuang, Richard Yang, Wenyu Zhang, Xinyi Wang, Rui Zhang, Pengyu Hong, David W. Bates, Li Zhou","doi":"10.1101/2024.08.11.24311828","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311828","url":null,"abstract":"Background: Generative Large language models (LLMs) represent a significant advancement in natural language processing, achieving state-of-the-art performance across various tasks. However, their application in clinical settings using real electronic health records (EHRs) is still rare and presents numerous challenges. Objective: This study aims to systematically review the use of generative LLMs in patient care-related topics involving EHRs, summarize the challenges faced, and suggest future directions. Methods: A Boolean search for peer-reviewed articles was conducted in May 2024 using PubMed and Web of Science to include research articles published since 2023, which was one month after the release of ChatGPT. The search results were deduplicated. Multiple reviewers, including biomedical informaticians, computer scientists, and a physician, screened the publications for eligibility and extracted bibliometric and clinically relevant information. Only papers utilizing generative LLMs to analyze real EHR data were included. We summarized the use of prompt engineering, fine-tuning, multimodal EHR data, and evaluation matrices. Additionally, we identified current challenges in applying LLMs in clinical settings as reported by the included papers and proposed future directions. Results: The initial search identified 6,328 unique studies, with 76 studies included after eligibility screening. Of these, 67 studies (88.2%) employed zero-shot prompting, five of them reported 100% accuracy on five specific clinical tasks. Nine studies used advanced prompting strategies; four tested these strategies experimentally, finding that prompt engineering improved performance, with one study noting a non-linear relationship between the number of examples in a prompt and performance improvement. Eight studies explored fine-tuning generative LLMs, all reported performance improvements on specific tasks, but three of them noted potential performance degradation after fine-tuning on certain tasks. Only two studies utilized multimodal data, which improved LLM-based decision-making and enabled accurate rare disease diagnosis and prognosis. The studies employed 55 different evaluation metrics for 22 purposes, such as correctness, completeness, and conciseness. Two studies investigated LLM bias, with one detecting no bias and the other finding that male patients received more appropriate clinical decision-making suggestions. Six studies identified hallucinations, such as fabricating patient names in structured thyroid ultrasound reports. Additional challenges included but not limited to the impersonal tone of LLM consultations, which made patients uncomfortable, and the difficulty patients had in understanding LLM responses. Conclusion: Our review indicates that few studies have employed advanced computational techniques to enhance LLM performance. The diverse evaluation metrics used highlight the need for standardization. LLMs currently cannot replace physicians due to cha","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"42 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The accuracy of large language models in labelling neurosurgical 'case-control studies and risk of bias assessment: protocol for a study of interrater agreement with human reviewers. 大型语言模型在标注神经外科 "病例对照研究 "和偏倚风险评估中的准确性:与人类审稿人进行的审稿人间一致性研究协议。
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311830
Joanne Igoli, Temidayo Osunronbi, O. Olukoya, Jeremiah Oluwatomi, Itodo Daniel, Hillary O. Alemenzohu, Alieu Kanu, Alex Mwangi Kihunyu, Ebuka Okeleke, Henry Oyoyo, Oluwatobi Shekoni, D. Jesuyajolu, Andrew F Alalade
Introduction: Accurate identification of study designs and risk of bias (RoB) assessment is crucial for evidence synthesis in research. However, mislabelling of case-control studies (CCS) is prevalent, leading to a downgraded quality of evidence. Large Language Models (LLMs), a form of artificial intelligence, have shown impressive performance in various medical tasks. Still, their utility and application in categorising study designs and assessing RoB needs to be further explored. This study will evaluate the performance of four publicly available LLMs (ChatGPT-3.5, ChatGPT-4, Claude 3 Sonnet, Claude 3 Opus) in accurately identifying CCS designs from the neurosurgical literature. Secondly, we will assess the human-LLM interrater agreement for RoB assessment of true CCS. Methods: We identified thirty-four top-ranking neurosurgical-focused journals and searched them on PubMed/MEDLINE for manuscripts reported as CCS in the title/abstract. Human reviewers will independently assess study designs and RoB using the Newcastle-Ottawa Scale. The methods sections/full-text articles will be provided to LLMs to determine study designs and assess RoB. Cohen's kappa will be used to evaluate human-human, human-LLM and LLM-LLM interrater agreement. Logistic regression will be used to assess study characteristics affecting performance. A p-value < 0.05 at a 95% confidence interval will be considered statistically significant. Conclusion If the human-LLM agreement is high, LLMs could become valuable teaching and quality assurance tools for critical appraisal in neurosurgery and other medical fields. This study will contribute to validating LLMs for specialised scientific tasks in evidence synthesis. This could lead to reduced review costs, faster completion, standardisation, and minimal errors in evidence synthesis.
导言:准确识别研究设计和评估偏倚风险(RoB)对于研究中的证据综合至关重要。然而,病例对照研究(CCS)的误标现象十分普遍,导致证据质量下降。大型语言模型(LLMs)是人工智能的一种形式,在各种医学任务中表现出了令人印象深刻的性能。不过,它们在分类研究设计和评估RoB方面的效用和应用仍有待进一步探索。本研究将评估四种公开可用的 LLM(ChatGPT-3.5、ChatGPT-4、Claude 3 Sonnet 和 Claude 3 Opus)在从神经外科文献中准确识别 CCS 设计方面的性能。其次,我们将评估人类与 LLM 在 RoB 评估真正的 CCS 时的交互一致性。方法:我们确定了 34 种以神经外科为重点的顶级期刊,并在 PubMed/MEDLINE 上检索标题/摘要中报告为 CCS 的稿件。审稿人将使用纽卡斯尔-渥太华量表独立评估研究设计和RoB。方法部分/文章全文将提供给法学硕士,以确定研究设计并评估RoB。Cohen's kappa 将用于评估人与人之间、人与 LLM 之间以及 LLM 与 LLM 之间的交互一致性。逻辑回归将用于评估影响绩效的研究特征。在 95% 置信区间内,P 值小于 0.05 将被视为具有统计学意义。结论 如果人类与 LLM 的一致性较高,LLM 可以成为神经外科和其他医学领域重要评估的宝贵教学和质量保证工具。这项研究将有助于验证 LLM 在证据合成中的专业科学任务。这将降低审查成本,加快完成速度,实现标准化,并将证据合成中的错误降到最低。
{"title":"The accuracy of large language models in labelling neurosurgical 'case-control studies and risk of bias assessment: protocol for a study of interrater agreement with human reviewers.","authors":"Joanne Igoli, Temidayo Osunronbi, O. Olukoya, Jeremiah Oluwatomi, Itodo Daniel, Hillary O. Alemenzohu, Alieu Kanu, Alex Mwangi Kihunyu, Ebuka Okeleke, Henry Oyoyo, Oluwatobi Shekoni, D. Jesuyajolu, Andrew F Alalade","doi":"10.1101/2024.08.11.24311830","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311830","url":null,"abstract":"Introduction: Accurate identification of study designs and risk of bias (RoB) assessment is crucial for evidence synthesis in research. However, mislabelling of case-control studies (CCS) is prevalent, leading to a downgraded quality of evidence. Large Language Models (LLMs), a form of artificial intelligence, have shown impressive performance in various medical tasks. Still, their utility and application in categorising study designs and assessing RoB needs to be further explored. This study will evaluate the performance of four publicly available LLMs (ChatGPT-3.5, ChatGPT-4, Claude 3 Sonnet, Claude 3 Opus) in accurately identifying CCS designs from the neurosurgical literature. Secondly, we will assess the human-LLM interrater agreement for RoB assessment of true CCS. Methods: We identified thirty-four top-ranking neurosurgical-focused journals and searched them on PubMed/MEDLINE for manuscripts reported as CCS in the title/abstract. Human reviewers will independently assess study designs and RoB using the Newcastle-Ottawa Scale. The methods sections/full-text articles will be provided to LLMs to determine study designs and assess RoB. Cohen's kappa will be used to evaluate human-human, human-LLM and LLM-LLM interrater agreement. Logistic regression will be used to assess study characteristics affecting performance. A p-value < 0.05 at a 95% confidence interval will be considered statistically significant. Conclusion If the human-LLM agreement is high, LLMs could become valuable teaching and quality assurance tools for critical appraisal in neurosurgery and other medical fields. This study will contribute to validating LLMs for specialised scientific tasks in evidence synthesis. This could lead to reduced review costs, faster completion, standardisation, and minimal errors in evidence synthesis.","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"11 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population 秘鲁人口高血压、糖尿病、肥胖症和生活方式的地理空间分析
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311820
J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce
Introduction: In Peru, the prevalence of diabetes mellitus (DM), hypertension (HTN), and obesity has increased significantly while healthy lifestyles have declined. However, the geographic distribution of these conditions at the provincial level has not been fully elucidated. Objective: To conduct a geospatial analysis to provide a comprehensive view of the distribution of DM, HTN, obesity, and lifestyles across Peruvian provinces. Materials and Methods: An analytical cross-sectional study was conducted using data from the 2023 Demographic and Family Health Survey (DHS). Descriptive analysis of the study variables was performed, and geospatial analysis techniques, including heat maps and the Local Moran's Index, were used to identify distribution patterns and clusters. Results: The national prevalence of DM, HTN, and obesity was 5.66%, 20.43%, and 27.67%, respectively. It was found that 8.35% were current smokers, 2.24% consumed alcohol excessively, and 90.69% consumed fewer than five servings of fruits and vegetables daily. Geospatial analysis revealed hotspots of high DM prevalence in the provinces of Oyon (Lima) and Daniel Alcides Carrion (Pasco), HTN in Putumayo (Loreto) and Corongo (Ancash), and obesity in Putumayo and Maynas (Loreto), and Pallasca (Ancash). Regarding lifestyles, clusters of high alcohol consumption were identified in the provinces of Piura and Cajamarca, high tobacco consumption in Loreto and San Martin, and low fruit and vegetable consumption in Lima and Huanuco. Conclusions: Marked geographical disparities were observed in the prevalence of chronic diseases and unhealthy lifestyles among Peruvian provinces, with a notable concentration in jungle regions and some coastal Andean areas. Keywords: Healthy lifestyles, chronic disease, Geographic Information Systems, Peru (DeCS)
导言:在秘鲁,糖尿病(DM)、高血压(HTN)和肥胖症的发病率大幅上升,而健康的生活方式却在下降。然而,这些疾病在省一级的地理分布尚未完全阐明。目的进行地理空间分析,全面了解糖尿病、高血压、肥胖症和生活方式在秘鲁各省的分布情况。材料与方法:利用 2023 年人口与家庭健康调查(DHS)的数据开展了一项横断面分析研究。对研究变量进行了描述性分析,并使用热图和地方莫兰指数等地理空间分析技术来确定分布模式和集群。研究结果全国糖尿病、高血压和肥胖症的患病率分别为 5.66%、20.43% 和 27.67%。结果发现,8.35%的人目前吸烟,2.24%的人过度饮酒,90.69%的人每天摄入的水果和蔬菜不足五份。地理空间分析显示,奥永省(利马)和丹尼尔-阿尔西德斯-卡里翁省(帕斯科)是糖尿病高发区,普图马约省(洛雷托)和科龙戈省(安卡什)是高血压高血脂高发区,普图马约省和梅纳斯省(洛雷托)以及帕拉斯卡省(安卡什)是肥胖症高发区。在生活方式方面,皮乌拉省和卡哈马卡省发现了高酒精消费群,洛雷托省和圣马丁省发现了高烟草消费群,利马省和瓦努科省发现了低水果和蔬菜消费群。结论秘鲁各省在慢性病和不健康生活方式的流行方面存在明显的地域差异,主要集中在丛林地区和一些安第斯沿海地区。关键词健康生活方式、慢性病、地理信息系统、秘鲁(DeCS)
{"title":"Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population","authors":"J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce","doi":"10.1101/2024.08.11.24311820","DOIUrl":"https://doi.org/10.1101/2024.08.11.24311820","url":null,"abstract":"Introduction: In Peru, the prevalence of diabetes mellitus (DM), hypertension (HTN), and obesity has increased significantly while healthy lifestyles have declined. However, the geographic distribution of these conditions at the provincial level has not been fully elucidated. Objective: To conduct a geospatial analysis to provide a comprehensive view of the distribution of DM, HTN, obesity, and lifestyles across Peruvian provinces. Materials and Methods: An analytical cross-sectional study was conducted using data from the 2023 Demographic and Family Health Survey (DHS). Descriptive analysis of the study variables was performed, and geospatial analysis techniques, including heat maps and the Local Moran's Index, were used to identify distribution patterns and clusters. Results: The national prevalence of DM, HTN, and obesity was 5.66%, 20.43%, and 27.67%, respectively. It was found that 8.35% were current smokers, 2.24% consumed alcohol excessively, and 90.69% consumed fewer than five servings of fruits and vegetables daily. Geospatial analysis revealed hotspots of high DM prevalence in the provinces of Oyon (Lima) and Daniel Alcides Carrion (Pasco), HTN in Putumayo (Loreto) and Corongo (Ancash), and obesity in Putumayo and Maynas (Loreto), and Pallasca (Ancash). Regarding lifestyles, clusters of high alcohol consumption were identified in the provinces of Piura and Cajamarca, high tobacco consumption in Loreto and San Martin, and low fruit and vegetable consumption in Lima and Huanuco. Conclusions: Marked geographical disparities were observed in the prevalence of chronic diseases and unhealthy lifestyles among Peruvian provinces, with a notable concentration in jungle regions and some coastal Andean areas. Keywords: Healthy lifestyles, chronic disease, Geographic Information Systems, Peru (DeCS)","PeriodicalId":18505,"journal":{"name":"medRxiv","volume":"7 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141919886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Geospatial analysis of the presence of hypertension, diabetes, obesity, and lifestyles in the Peruvian population 秘鲁人口高血压、糖尿病、肥胖症和生活方式的地理空间分析
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311820
J. Loayza-Castro, L. A. M. Valladoli-Sansoval, L. E. M. -. Vasquez-Romero, F. E. Zuzunaga-Montoya, J. R. Astucuri Hidalgo, V. Vera-Ponce
Introduction: In Peru, the prevalence of diabetes mellitus (DM), hypertension (HTN), and obesity has increased significantly while healthy lifestyles have declined. However, the geographic distribution of these conditions at the provincial level has not been fully elucidated. Objective: To conduct a geospatial analysis to provide a comprehensive view of the distribution of DM, HTN, obesity, and lifestyles across Peruvian provinces. Materials and Methods: An analytical cross-sectional study was conducted using data from the 2023 Demographic and Family Health Survey (DHS). Descriptive analysis of the study variables was performed, and geospatial analysis techniques, including heat maps and the Local Moran's Index, were used to identify distribution patterns and clusters. Results: The national prevalence of DM, HTN, and obesity was 5.66%, 20.43%, and 27.67%, respectively. It was found that 8.35% were current smokers, 2.24% consumed alcohol excessively, and 90.69% consumed fewer than five servings of fruits and vegetables daily. Geospatial analysis revealed hotspots of high DM prevalence in the provinces of Oyon (Lima) and Daniel Alcides Carrion (Pasco), HTN in Putumayo (Loreto) and Corongo (Ancash), and obesity in Putumayo and Maynas (Loreto), and Pallasca (Ancash). Regarding lifestyles, clusters of high alcohol consumption were identified in the provinces of Piura and Cajamarca, high tobacco consumption in Loreto and San Martin, and low fruit and vegetable consumption in Lima and Huanuco. Conclusions: Marked geographical disparities were observed in the prevalence of chronic diseases and unhealthy lifestyles among Peruvian provinces, with a notable concentration in jungle regions and some coastal Andean areas. Keywords: Healthy lifestyles, chronic disease, Geographic Information Systems, Peru (DeCS)
导言:在秘鲁,糖尿病(DM)、高血压(HTN)和肥胖症的发病率大幅上升,而健康的生活方式却在下降。然而,这些疾病在省一级的地理分布尚未完全阐明。目的进行地理空间分析,全面了解糖尿病、高血压、肥胖症和生活方式在秘鲁各省的分布情况。材料与方法:利用 2023 年人口与家庭健康调查(DHS)的数据开展了一项横断面分析研究。对研究变量进行了描述性分析,并使用热图和地方莫兰指数等地理空间分析技术来确定分布模式和集群。研究结果全国糖尿病、高血压和肥胖症的患病率分别为 5.66%、20.43% 和 27.67%。结果发现,8.35%的人目前吸烟,2.24%的人过度饮酒,90.69%的人每天摄入的水果和蔬菜不足五份。地理空间分析显示,奥永省(利马)和丹尼尔-阿尔西德斯-卡里翁省(帕斯科)是糖尿病高发区,普图马约省(洛雷托)和科龙戈省(安卡什)是高血压高血脂高发区,普图马约省和梅纳斯省(洛雷托)以及帕拉斯卡省(安卡什)是肥胖症高发区。在生活方式方面,皮乌拉省和卡哈马卡省发现了高酒精消费群,洛雷托省和圣马丁省发现了高烟草消费群,利马省和瓦努科省发现了低水果和蔬菜消费群。结论秘鲁各省在慢性病和不健康生活方式的流行方面存在明显的地域差异,主要集中在丛林地区和一些安第斯沿海地区。关键词健康生活方式、慢性病、地理信息系统、秘鲁(DeCS)
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引用次数: 0
Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations 绘制表观遗传基因变异动态图:非洲和欧洲人群的频率、功能影响和性状关联的比较分析
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311816
M. Sinkala, Gaone Retshabile, P. Mpangase, Salia Bamba, Modibo K Goita, Vicky Nembaware, S. Elsheikh, Jeannine Heckmann, K. Esoh, M. Matshaba, Clement A. Adebamowo, S. Adebamowo, Ofon Elvis, Amih, A. Wonkam, Michele Ramsay, Nicola Mulder
Epigenetic modifications influence gene expression levels, impact organismal traits, and play a role in the development of diseases. Therefore, variants in genes involved in epigenetic processes are likely to be important in disease susceptibility, and the frequency of variants may vary between populations with African and European ancestries. Here, we analyse an integrated dataset to define the frequencies, associated traits, and functional impact of epigenetic gene variants among individuals of African and European ancestry represented in the UK Biobank. We find that the frequencies of 88.4% of epigenetic gene variants significantly differ between these groups. Furthermore, we find that the variants are associated with many traits and diseases, and some of these associations may be population-specific owing to allele frequency differences. Additionally, we observe that variants associated with traits are significantly enriched for quantitative trait loci that affect DNA methylation, chromatin accessibility, and gene expression. We find that methylation quantitative trait loci account for 71.2% of the variants influencing gene expression. Moreover, variants linked to biomarker traits exhibit high correlation. We therefore conclude that epigenetic gene variants associated with traits tend to differ in their allele frequencies among African and European populations and are enriched for QTLs.
表观遗传修饰会影响基因的表达水平,影响生物体的性状,并在疾病的发生发展中发挥作用。因此,参与表观遗传过程的基因变异很可能对疾病易感性有重要影响,而且非洲和欧洲血统人群的变异频率可能会有所不同。在这里,我们分析了一个综合数据集,以确定英国生物库中非洲和欧洲血统个体中表观遗传基因变异的频率、相关性状和功能影响。我们发现,88.4% 的表观遗传基因变异的频率在这些群体之间存在显著差异。此外,我们还发现这些变异与许多性状和疾病有关,其中一些关联可能因等位基因频率的差异而具有人群特异性。此外,我们还观察到,与性状相关的变异明显富集于影响 DNA 甲基化、染色质可及性和基因表达的数量性状位点。我们发现,甲基化数量性状位点占影响基因表达变异的 71.2%。此外,与生物标记性状相关的变异表现出高度的相关性。因此,我们得出结论,与性状相关的表观遗传基因变异在等位基因频率上往往在非洲和欧洲人群中有所不同,并且富含 QTLs。
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引用次数: 0
Nasal colonizing vancomycin-resistant and intermediate Staphylococcus aureus among admitted patients 入院患者中鼻定植的耐万古霉素金黄色葡萄球菌和中型金黄色葡萄球菌
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.12.24311719
B. K. Mengistu, T. Alemayehu, T. H. Mengesha, M. M. Ali
Background: Staphylococcus aureus colonizing the nasal cavity is a potential source of infections. Vancomycin is a mainstay for treating invasive infections caused by penicillin and methicillin-resistant S. aureus (MRSA). Some reports indicate the emergence of vancomycin-resistant S. aureus (VRSA) making it a high-priority pathogen that needs attention. There is a limited report on the epidemiology of VRSA and vancomycin-intermediate S. aureus (VISA) from the Sidama regional state. Objective: The objective of this study was to determine VRSA and VISA among S. aureus colonizing patients admitted at Hawassa University Comprehensive Specialized Hospital (HUCSH), associated factors, and antimicrobial susceptibility profile. Methods: A hospital-based prospective cross-sectional study was conducted from April to June 2023. Socio-demographic and clinical data were collected using an interviewer-administered questionnaire. Nasal swabs were collected from 378 admitted patients. Identification of S. aureus was made using standard bacteriological methods. VRSA was determined by the Epsilometer test (E-test). The antimicrobial susceptibility profile was determined according to the Kirby-Bauer disk diffusion method. Data was analyzed using SPSS version 22. A p<0.05 was taken as a cut point to determine a statistically significant association. Results: Out of the total 92 S. aureus isolated 12 (13.04%), 27(29.3%), 15(16.3%) were VRSA, VISA, and MRSA respectively. The carriage rate of VRSA and VISA among admitted patients were 12(3.2%) with 95% CI: 1.7%-5.5% and 27(7.14%) with 95% CI: 4.8%-10.2% respectively. The overall nasal carriage rate of S. aureus and MRSA was 92(24.3%) with 95% CI: 20.1%-29% and 15(3.97%) with 95% CI: 2.2%-6.5% respectively. Of the VRSA isolates, 11(91.7%) were susceptible to tigecycline. Forty (43.5%) of S. aureus were positive for inducible clindamycin resistance. Participants with a history of hospitalization at the intensive care unit were 37 times more likely to be colonized with VRSA (p=0.001). Participants who have domestic animals were 22 times more likely to be colonized with VRSA (p=0.021). Conclusions: This study indicated a high proportion of VRSA and VISA among S. aureus isolated from hospitalized patients in the study area. More than 80% of VRSA were susceptible to tigecycline. History of hospitalization at the intensive care unit and having domestic animals at home could increase the odds of VRSA colonization.
背景:定植于鼻腔的金黄色葡萄球菌是潜在的感染源。万古霉素是治疗由青霉素和耐甲氧西林金黄色葡萄球菌(MRSA)引起的侵袭性感染的主要药物。一些报告显示,耐万古霉素金黄色葡萄球菌(VRSA)的出现使其成为需要关注的高度优先病原体。关于西达马地区州的耐万古霉素金葡菌(VRSA)和万古霉素中间型金葡菌(VISA)流行病学的报告十分有限。研究目的本研究旨在确定哈瓦萨大学综合专科医院(HUCSH)收治的金黄色葡萄球菌定植患者中的 VRSA 和 VISA、相关因素以及抗菌药物敏感性概况。研究方法于 2023 年 4 月至 6 月开展了一项基于医院的前瞻性横断面研究。采用访谈者发放的调查问卷收集社会人口学和临床数据。收集了 378 名入院患者的鼻拭子。采用标准细菌学方法鉴定金黄色葡萄球菌。VRSA 通过 Epsilometer 测试(E-test)确定。抗菌药敏感性根据柯比-鲍尔盘扩散法进行测定。数据使用 SPSS 22 版进行分析。以 p<0.05 为临界点,确定两者之间存在显著的统计学关联。结果在总共 92 个分离出的金黄色葡萄球菌中,12 个(13.04%)、27 个(29.3%)、15 个(16.3%)分别为 VRSA、VISA 和 MRSA。入院患者的 VRSA 和 VISA 带菌率分别为 12(3.2%)(95% CI:1.7%-5.5%)和 27(7.14%)(95% CI:4.8%-10.2%)。金黄色葡萄球菌和 MRSA 的总体鼻腔携带率分别为 92(24.3%)(95% CI:20.1%-29%)和 15(3.97%)(95% CI:2.2%-6.5%)。在 VRSA 分离物中,有 11 个(91.7%)对替加环素敏感。40株(43.5%)金黄色葡萄球菌对诱导性克林霉素耐药性呈阳性。曾在重症监护室住院的参试者感染 VRSA 的几率是其他参试者的 37 倍(p=0.001)。饲养家畜的参试者感染 VRSA 的几率是其他参试者的 22 倍(P=0.021)。结论:这项研究表明,在研究地区从住院患者中分离出的金黄色葡萄球菌中,VRSA 和 VISA 的比例很高。超过 80% 的 VRSA 对替加环素敏感。在重症监护室的住院史和家中饲养家畜可能会增加 VRSA 定植的几率。
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引用次数: 0
Its because they are my kids and I love them": The impact of family and community substance use on children and families 因为他们是我的孩子,我爱他们":家庭和社区使用药物对儿童和家庭的影响
Pub Date : 2024-08-12 DOI: 10.1101/2024.08.11.24311834
Meghan Ford, Ryan Truong, Bruce Knox, Susan A. Bartels, Colleen Davidson, Michele Cole, Logan Jackson, Eva Purkey, Imaan Bayoumi
Background: Substance use disorders (SUD) significantly impact the physical, social, and mental health of individuals, their families, and the wider community. Parental substance use can lead to long-term social and health problems for children. Examining resilience and its determinants among families directly affected by SUD (e.g., having a parent who misuses substances) or indirectly exposed to substance use (e.g., living in a community impacted by drug use) may uncover valuable insights to support families addressing SUD. The existing literature does not adequately address substance use within the context of families with young children and community resilience. The current study aims to enhance our understanding of the daily impact of family member substance use (direct substance use) or exposure to substance use within the community (indirect substance use) on children and families through qualitative interviews. Methods: The present study was a qualitative secondary analysis. Families were recruited within the Kingston, Frontenac, Lennox, and Addington area during 2022 and 2023 with a focus on maximum variation. Families were eligible to participate if they: 1) included at least one adult caring for a child under 18; 2) had a history of adversity; 3) were interested in participating; and 4) could consent to all parts of the study. Arts-based qualitative methods and community based participatory methods were employed. Participating families created a visual timeline, participated in a focus group discussion, and an individual interview. The qualitative transcripts were then analyzed following reflexive thematic analysis. Findings: Six families (12 adults, 4 children) were included in the secondary analysis. The analysis generated four themes: (1) How children affect resilience in families affected by SUD; (2) Service needs of parents with SUD to enhance family resilience; (3) The role of social support in family resilience; and (4) How perceptions of safety and trust challenge community resilience. The main limitation of this study was a small sample size. Conclusions: The study highlights the significant impact of family and community on the resilience of individuals affected by SUD. It emphasizes the importance of developing addictions services and social environments that are supportive of families with young children. These spaces should be designed to be substance-free, inclusive, and welcoming to children. Additionally, there is a need to improve service navigation and address the barriers to care commonly experienced by individuals affected by SUD.
背景:药物使用失调(SUD)对个人、其家庭和更广泛的社区的身体、社会和心理健康造成严重影响。父母使用药物会给孩子带来长期的社会和健康问题。研究直接受药物滥用影响(如父母一方滥用药物)或间接受药物滥用影响(如生活在受药物滥用影响的社区)的家庭的抗逆力及其决定因素,可为支持家庭解决药物滥用问题提供有价值的见解。现有文献没有充分论述有幼儿的家庭和社区复原力背景下的药物使用问题。本研究旨在通过定性访谈,加深我们对家庭成员药物使用(直接药物使用)或在社区内接触药物使用(间接药物使用)对儿童和家庭的日常影响的了解。研究方法本研究为二次定性分析。在 2022 年和 2023 年期间,在金斯顿、弗朗特纳克、伦诺克斯和爱丁顿地区招募家庭,重点关注最大差异。符合以下条件的家庭有资格参与1) 至少有一名成年人照顾 18 岁以下的儿童;2) 有逆境史;3) 有兴趣参与;4) 可以同意参与研究的所有部分。研究采用了基于艺术的定性方法和基于社区的参与方法。参与研究的家庭制作了一份可视化时间表,参加了一次焦点小组讨论和一次个人访谈。然后对定性记录进行了反思性主题分析。研究结果二次分析包括六个家庭(12 个成人,4 个儿童)。分析产生了四个主题:(1) 儿童如何影响受 SUD 影响的家庭的复原力;(2) 患有 SUD 的父母在提高家庭复原力方面的服务需求;(3) 社会支持在家庭复原力中的作用;(4) 安全感和信任感如何挑战社区复原力。本研究的主要局限性在于样本量较小。结论:本研究强调了家庭和社区对受 SUD 影响的个人的复原力的重要影响。它强调了发展支持有幼儿家庭的戒毒服务和社会环境的重要性。这些场所的设计应该不含药物、具有包容性并欢迎儿童的到来。此外,还需要改善服务导航,解决受药物滥用影响的个人在接受护理时通常会遇到的障碍。
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