diverse populations

  • 文章类型: Journal Article
    亲密伴侣暴力(IPV)包括所有形式的虐待,是一个正在进行的公共卫生和刑法问题,超越了社会界限。然而,文献中经历IPV的不同人群缺乏公平的代表性。为了获得不同的IPV幸存者群体的整体知识,从警察那里寻求帮助,当前的审查采用了定性研究综合方法,以探讨在当前文献中代表性不足的六个IPV幸存者人群之间的警察互动:患有药物使用问题的妇女,移民妇女,农村地区的妇女,异性恋男人,种族/种族化的妇女,性少数女性。搜索了七个电子数据库,以识别有关IPV幸存者与执法部门相遇的叙述性描述(定性或混合方法)的同行评审文章。最终分析包括28项研究,然后用迭代编码策略进行编码。分析揭示了以下主题:(a)警察再次受害,(b)警方疏忽,(c)歧视,文化差异,(e)积极的经验。这些主题表明,尽管在研究不足的幸存者群体之间分享了一些执法经验,一些经历与幸存者身份的某些方面明确相关。认识到潜在的执法部门必须支持幸存者,本次审查的结果重申,需要不断努力提高执法知识和对IPV的整体反应,特别是对于不同的IPV幸存者群体。
    Intimate partner violence (IPV), inclusive of all forms of abuse, is an ongoing public health and criminal-legal issue that transcends social boundaries. However, there is a lack of equitable representation of diverse populations who experience IPV in the literature. To garner a holistic knowledge of diverse IPV survivor populations\' experiences with seeking help from the police, the current review utilized a qualitative research synthesis methodology to explore police interactions among six IPV survivor populations that are underrepresented in the current literature: women with substance use issues, immigrant women, women in rural localities, heterosexual men, racially/ethnically minoritized women, and sexual minority women. Seven electronic databases were searched to identify peer-reviewed articles on IPV survivors\' narrative descriptions (qualitative or mixed-methods) of their encounters with law enforcement. The final analysis included 28 studies that were then coded with an iterative coding strategy. The analysis uncovered the following themes: (a) revictimization by the police, (b) police negligence, (c) discrimination, (d) cultural differences, and (e) positive experiences. These themes demonstrated that while some experiences with law enforcement were shared between under-researched survivor groups, some experiences were explicitly tied to some aspects of survivors\' identities. Recognizing the potential law enforcement has to support survivors, the findings of the current review reiterate the need for ongoing efforts to improve law enforcement knowledge and overall response to IPV, especially for diverse populations of IPV survivors.
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  • 文章类型: Journal Article
    目的:修改现有的简明婴儿睡眠问卷-修订版(BISQ-R),以确保其适用于测量来自Aotearoa新西兰(家庭)的不同样本的幼儿的夜间睡眠健康状况,并开发“婴儿和幼儿睡眠感知量表”(PoITSS),用作即将进行的试验的主要结局测量。
    方法:来自BISQ-R的项目适用于不同种族的whānau,并对0-2岁儿童的看护人进行了在线测试。通过缩放来自三个问卷项目的响应以创建0(非常差)和10(非常好)之间的值来生成PoITSS得分。护理人员提供了有关解释和回答问卷项目的便利性的定性反馈。
    结果:957名儿童的照顾者(35%毛利人,12%太平洋)完成问卷。通过人口统计学特征观察到儿童夜间睡眠的差异很少。平均PoITSS评分为6.9(SD2.3),在毛利儿童中稍高(平均差0.4,95%CI0.1,0.7)。重测显示良好的可靠性(ICC=0.81)。虽然大多数(86%)的护理人员发现很难回答形成PoITSS的任何项目,定性反馈表明,对某些项目进行简单修改将有助于确保大多数护理人员对这些项目的理解.
    结论:来自BISQ-R的项目已成功改编,PoITSS量表被证明是合适的,用于种族多样化的新西兰Aotearoawhānau与年幼的孩子。
    OBJECTIVE: To modify an existing questionnaire Brief Infant Sleep Questionnaire - Revised (BISQ-R) to ensure that it is suitable to measure nocturnal sleep health in a diverse sample of young children from Aotearoa New Zealand whānau (families), and to develop a \"Perception of Infant and Toddler Sleep Scale\" (PoITSS) to use as a primary outcome measurement in an upcoming trial.
    METHODS: Items from the BISQ-R were adapted for use among ethnically diverse whānau, and tested online with caregivers of 0-2 year old children. A PoITSS score was generated by scaling the responses from three of the questionnaire items to create a value between 0 (very poor) and 10 (very good). Caregivers provided qualitative feedback about the ease of interpreting and answering questionnaire items.
    RESULTS: Caregivers of 957 children (35% Māori, 12% Pacific) completed the questionnaire. Few differences in children\'s nocturnal sleep were observed by demographic characteristics. The mean PoITSS score was 6.9 (SD 2.3) and was slightly higher among Māori children (mean difference 0.4, 95% CI 0.1, 0.7). Test-retest indicated good reliability (ICC=0.81). While the majority (86%) of caregivers did not find it difficult to answer any of the items which formed the PoITSS, qualitative feedback indicated that simple modifications to some items would help ensure that they would be well understood by most caregivers.
    CONCLUSIONS: Items from the BISQ-R were successfully adapted, and the PoITSS scale was shown to be appropriate, for use in ethnically diverse Aotearoa New Zealand whānau with young children.
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  • 文章类型: Journal Article
    在培训和临床服务提供中解决系统性不公正和种族主义是临床科学的关键下一步。虽然APA多元文化准则和认证标准长期以来一直强调这一需求,大多数研究生课程提供关于多样性的单一课程,股本,和包容性主题,这不足以培训和维持文化上谦卑的提供者,并纠正心理学中的系统性不公正和种族主义。很少有“真实世界”的例子来指导训练模型的开发。我们提供专业诊所的发展和组成部分的背景,新墨西哥大学文化咨询中心,其使命是为不同的客户提供文化上知情的临床服务,并在整个研究生课程中注入多元文化培训。接受了心理学和批判种族理论的种族空间框架,我们描述我们的方法旨在:1)为多元文化和反种族主义培训的实施和交付提供申请;2)加强监督模式;和3)提高对结构能力的认识。我们的诊所,在学生和教师之间合作开发,作为围绕结构性不公正进行对话的安全论坛,并寻求改善对不同客户和精神保健服务不足的人的治疗。我们讨论学生和教师参与的问题,并提供教师和有色人种学生的观点,说明我们服务的案例,以及目前扩大和正规化社区合作的努力。我们提供一个集成课程的模型,非正式活动,以及对全面学生培训的多元文化监督,并促进围绕公平的对话和支持的部门文化,多样性,和正义。
    Addressing systemic injustices and racism in training and clinical service provision are key next steps in clinical science. While the APA Multicultural Guidelines and accreditation standards have long emphasized this need, most graduate programs offer a single course on diversity, equity, and inclusion topics, which is inadequate to train and sustain culturally humble providers and redress systemic injustices and racism within psychology. Few \"real-world\" examples exist to guide the development of training models. We provide background on the development and components of a specialty clinic, the University of New Mexico\'s Cultural Counseling Center, whose mission is providing culturally informed clinical services to diverse clientele, and to infuse multicultural training throughout the graduate program. Informed by the racial-spatial framework for psychology and critical race theory, we describe our approach intended to: 1) offer applications for the operationalization and delivery of multicultural and antiracist training; 2) enhance supervisory models; and 3) increase awareness of structural competence. Our clinic, developed collaboratively among students and faculty, serves as a safe forum for dialogue around structural injustices and seeks to improve treatment for diverse clients and those underserved in mental health care. We discuss issues of student and faculty engagement and offer the perspectives of faculty and students of color, case examples illustrating our services, and current efforts to expand and formalize community collaborations. We offer a model that integrates coursework, informal activities, and multicultural supervision for comprehensive student training and that promotes a departmental culture of dialogue and support around equity, diversity, and justice.
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  • 文章类型: Journal Article
    背景:边缘化群体中宫颈癌筛查率的差异是宫颈癌不平等的驱动因素。人乳头瘤病毒(HPV)检测的自我采样是临床医生进行的筛查宫颈癌的一种新兴替代方法。并有很大的潜力来减少筛选不足和边缘化群体的筛选障碍。我们研究了黑人/非裔美国人HPV自我采样和信息材料的可接受性,西班牙裔/西班牙语,美洲印第安人/阿拉斯加原住民和变性者/非二元人群。
    方法:我们对患者进行了定性访谈,30-65岁,黑人/非洲裔美国人,西班牙裔,美洲印第安人,和/或出生时被分配给女性的变性人/非二元个体。电话采访以英语或西班牙语进行。患者没有完成测试,而是被问及吸引力,可理解性,以及HPV自检的可接受性,说明,和消息。
    结果:在23个完成的访谈中(5个美洲印第安人/阿拉斯加原住民,7西班牙裔[2双语,5说西班牙语],5黑人/非洲裔美国人,和6个变性人/非二元),所有组的患者都认为测试简单方便,他们会在家里或诊所完成测试。变性人/非二元患者更喜欢在家测试。美洲印第安人和变性者/非二元患者喜欢该测试可以避免疼痛,不适,和侵入性。所有患者都喜欢这封信和指示。所有小组都提出了使材料在文化上更可接受的具体建议。
    结论:HPV自检以及使用说明和材料对于不同组的患者是可以接受的。应考虑量身定制的外联和消息传递,以减少医疗系统历史上服务不足的群体之间的筛查差异。
    BACKGROUND: Disparities in cervical cancer screening rates among marginalized groups is a driver of inequalities in cervical cancer. Self-sampling for human papillomavirus (HPV) testing is a newly emerging alternative to clinician-performed testing to screen for cervical cancer, and has high potential to reduce screening barriers in under-screened and marginalized groups. We study the acceptability in of HPV self-sampling and informational materials among Black/African American, Hispanic/Spanish speaking, American Indian/Alaska Native and transgender/nonbinary populations.
    METHODS: We conducted qualitative interviews with patients, ages 30-65, who were Black/African American, Hispanic, American Indian, and/or transgender/nonbinary individuals assigned female at birth. Telephone interviews were conducted in English or Spanish. Patients did not complete the test, rather were asked about the attractiveness, comprehensibility, and acceptability of the HPV self-test, instructions, and messaging.
    RESULTS: Among 23 completed interviews (5 American Indian/Alaska Native, 7 Hispanic [2 bilingual, 5 Spanish-speaking], 5 Black/African American, and 6 transgender/nonbinary), patients from all groups thought the test was straightforward and convenient, and they would complete the test at home or in clinic. The transgender/nonbinary patients preferred at-home testing. American Indian and transgender/nonbinary patients liked that the test might avoid pain, discomfort, and invasiveness. All patients liked the letter and instructions. All groups had specific suggestions for making the materials more culturally acceptable.
    CONCLUSIONS: The HPV self-test and the instructions and materials for use were acceptable for a diverse group of patients. Tailored outreach and messaging should be considered to reduce screening disparities among groups that have been historically underserved by the medical system.
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  • 文章类型: Journal Article
    全基因组关联研究(GWAS)的最新进展不仅来自越来越大的样本量,而且还来自重点向代表性不足的人群转移。多种群GWAS通过利用来自不同种群的连锁不平衡(LD)的证据和差异来提高检测新风险变异的能力,并提高精细映射分辨率。这里,我们通过边际SNP效应联合分析(JAM)将以前的单种群精细映射方法扩展到多种群分析(mJAM)。假设真正的因果变异在研究中很常见,我们实现了一个层次模型框架,该框架对多个SNP进行了条件化,同时明确地将不同的LD结构纳入种群中.mJAM框架可用于首先使用具有不同特征选择方法的mJAM似然性来选择索引变体。此外,我们提出了一种新颖的方法,利用中介的思想为这些索引变体构建可信的集合。在给定任何现有索引变体的情况下,可以执行这样的可信集合的构造。我们通过两个实现来说明mJAM似然的实现:mJAM-SuSiE(贝叶斯方法)和mJAM-Forward选择。通过基于LD的实际效果大小和水平的仿真研究,我们证明了mJAM在构建包含潜在因果变量的简洁可信集合方面表现良好。在最新的多人群前列腺癌GWAS的真实数据例子中,我们展示了mJAM优于其他现有多种群方法的几个实际优势。
    Recent advancement in genome-wide association studies (GWAS) comes from not only increasingly larger sample sizes but also the shift in focus towards underrepresented populations. Multipopulation GWAS increase power to detect novel risk variants and improve fine-mapping resolution by leveraging evidence and differences in linkage disequilibrium (LD) from diverse populations. Here, we expand upon our previous approach for single-population fine-mapping through Joint Analysis of Marginal SNP Effects (JAM) to a multipopulation analysis (mJAM). Under the assumption that true causal variants are common across studies, we implement a hierarchical model framework that conditions on multiple SNPs while explicitly incorporating the different LD structures across populations. The mJAM framework can be used to first select index variants using the mJAM likelihood with different feature selection approaches. In addition, we present a novel approach leveraging the ideas of mediation to construct credible sets for these index variants. Construction of such credible sets can be performed given any existing index variants. We illustrate the implementation of the mJAM likelihood through two implementations: mJAM-SuSiE (a Bayesian approach) and mJAM-Forward selection. Through simulation studies based on realistic effect sizes and levels of LD, we demonstrated that mJAM performs well for constructing concise credible sets that include the underlying causal variants. In real data examples taken from the most recent multipopulation prostate cancer GWAS, we showed several practical advantages of mJAM over other existing multipopulation methods.
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  • 文章类型: Journal Article
    背景:全基因组关联研究(GWAS)已经确定了与阿尔茨海默病(AD)相关的基因座,但没有确定这些基因座内的特定致病基因或变异。全基因组序列(WGS)数据分析,它询问整个基因组并捕获罕见的变异,可以识别GWAS基因座内的因果变异。
    方法:我们使用来自阿尔茨海默病测序项目(ADSP)的WGS数据,对合并人群(N例=2184,N对照=2383)进行了单一常见变异关联分析和罕见变异集合分析,并对亚群进行了针对性分析。分析仅限于先前鉴定的83个GWAS前导变体的100kb内的变体。
    结果:在涉及基因OARD1/NFYA/TREML1、JAZF1、FERMT2和SLC24A4的5个基因组区域内,17个变异与AD显著相关。单一变体和罕见变体聚集体分析均涉及KAT8。
    结论:这项研究证明了利用WGS获得通过GWAS识别的AD基因座的见解的实用性。
    Genome-wide association studies (GWAS) have identified loci associated with Alzheimer\'s disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci.
    We performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases = 2184, N controls = 2383) and targeted analyses in subpopulations using WGS data from the Alzheimer\'s Disease Sequencing Project (ADSP). The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants.
    Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses.
    This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.
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  • 文章类型: Journal Article
    背景:本研究探讨了中东人群心律失常表型的遗传基础,在基因组医学研究中代表性不足。方法:使用来自卡塔尔生物库的14,259名个体的全基因组测序数据,其中包含47.8%的阿拉伯血统,南亚血统的18.4%,和4.6%的非洲血统。评估了一组410个心律失常候选基因中罕见功能变异的频率。评估多基因风险评分(PRS)预测房颤(AF)的性能。结果:本研究确定了1196个罕见的功能变异,包括162个以前与心律失常表型有关的人,整个阿拉伯人的频率各不相同,南亚,和非洲祖先。其中,根据ACMG指南,137种变体符合致病性或可能致病性(P/LP)标准。其中,91个存在于ACMG可操作基因中,存在于1030个个体中(~7%)。10个P/LP变异与房颤p<2.4×10-10显著相关。十分之五的现有PRS与房颤显著相关(例如,PGS000727,p=0.03,OR=1.43[1.03,1.97])。结论:我们的研究是使用全基因组序列数据研究中东心律失常表型的遗传易感性的最大研究。它强调了在基因组研究中纳入不同人群的重要性,以阐明心律失常的遗传景观并减轻基因组医学中的健康差异。
    Background: The current study explores the genetic underpinnings of cardiac arrhythmia phenotypes within Middle Eastern populations, which are under-represented in genomic medicine research. Methods: Whole-genome sequencing data from 14,259 individuals from the Qatar Biobank were used and contained 47.8% of Arab ancestry, 18.4% of South Asian ancestry, and 4.6% of African ancestry. The frequency of rare functional variants within a set of 410 candidate genes for cardiac arrhythmias was assessed. Polygenic risk score (PRS) performance for atrial fibrillation (AF) prediction was evaluated. Results: This study identified 1196 rare functional variants, including 162 previously linked to arrhythmia phenotypes, with varying frequencies across Arab, South Asian, and African ancestries. Of these, 137 variants met the pathogenic or likely pathogenic (P/LP) criteria according to ACMG guidelines. Of these, 91 were in ACMG actionable genes and were present in 1030 individuals (~7%). Ten P/LP variants showed significant associations with atrial fibrillation p < 2.4 × 10-10. Five out of ten existing PRSs were significantly associated with AF (e.g., PGS000727, p = 0.03, OR = 1.43 [1.03, 1.97]). Conclusions: Our study is the largest to study the genetic predisposition to arrhythmia phenotypes in the Middle East using whole-genome sequence data. It underscores the importance of including diverse populations in genomic investigations to elucidate the genetic landscape of cardiac arrhythmias and mitigate health disparities in genomic medicine.
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  • 文章类型: Journal Article
    背景:已提出对1型糖尿病(T1D)风险进行人群筛查以鉴定具有胰岛自身免疫性(存在胰岛自身抗体)的人群。由于胰岛自身抗体可以是短暂的,遗传风险评分筛查已被提议作为自身抗体检测的入口。
    方法:从弗吉尼亚州的8个普通儿科和专科诊所招募儿童,这些诊所有不同的社区环境。每个诊所的招聘人员都获得了知情同意/同意,病史,和唾液样本用于有和没有T1D病史的儿童的DNA提取。自定义基因分型小组用于基于欧洲和非洲遗传祖先中相关的SNP来定义T1D遗传风险。为处于“高遗传风险”的受试者提供了单独的血液采集,以筛选四种胰岛自身抗体。后续联系人(电子邮件,邮件,和电话)在一半的参与者中确定了随后的T1D的兴趣和发生。
    结果:共招募了3818名2-16岁的儿童,14.2%(n=542)具有高遗传风险。在具有“高遗传风险”且没有预先存在T1D的儿童中(n=494),7.0%(34/494)同意进行自身抗体筛查;82.4%(28/34)同意的人也完成了采血,其中7.1%(2/28)的患者多重自身抗体检测呈阳性。在先前存在T1D的儿童中(n=91),52%(n=48)有很高的遗传风险。“在现有T1D的儿童样本中,T1D发病时遗传风险与年龄之间没有关系.获得胰岛自身抗体测试的主要因素是对SARS-CoV-2暴露的担忧。
    结论:使用遗传风险评分进行的微创唾液采样可以确定有T1D遗传风险的儿童。同意自身抗体筛查,然而,主要是由于SARS-CoV-2大流行和需要采血。
    Population screening for risk of type 1 diabetes (T1D) has been proposed to identify those with islet autoimmunity (presence of islet autoantibodies). As islet autoantibodies can be transient, screening with a genetic risk score has been proposed as an entry into autoantibody testing.
    Children were recruited from eight general pediatric and specialty clinics across Virginia with diverse community settings. Recruiters in each clinic obtained informed consent/assent, a medical history, and a saliva sample for DNA extraction in children with and without a history of T1D. A custom genotyping panel was used to define T1D genetic risk based upon associated SNPs in European- and African-genetic ancestry. Subjects at \"high genetic risk\" were offered a separate blood collection for screening four islet autoantibodies. A follow-up contact (email, mail, and telephone) in one half of the participants determined interest and occurrence of subsequent T1D.
    A total of 3818 children aged 2-16 years were recruited, with 14.2% (n = 542) having a \"high genetic risk.\" Of children with \"high genetic risk\" and without pre-existing T1D (n = 494), 7.0% (34/494) consented for autoantibody screening; 82.4% (28/34) who consented also completed the blood collection, and 7.1% (2/28) of them tested positive for multiple autoantibodies. Among children with pre-existing T1D (n = 91), 52% (n = 48) had a \"high genetic risk.\" In the sample of children with existing T1D, there was no relationship between genetic risk and age at T1D onset. A major factor in obtaining islet autoantibody testing was concern over SARS-CoV-2 exposure.
    Minimally invasive saliva sampling implemented using a genetic risk score can identify children at genetic risk of T1D. Consent for autoantibody screening, however, was limited largely due to the SARS-CoV-2 pandemic and need for blood collection.
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  • 文章类型: Journal Article
    背景:静息心电图(ECG)是临床医学中用于评估患者静息时心脏电活动的有价值的非侵入性诊断工具。心电图异常可能与临床生物标志物有关,并可以预测疾病的早期阶段。在这项研究中,我们评估了心电图特征之间的关联,临床生物标志物,和疾病,并制定了风险评分,以预测卡塔尔生物银行发生冠状动脉疾病(CAD)的风险。
    方法:本研究使用了13,827名参与者的12导联心电图数据。用于关联分析的心电图性状为RR,PR,QRS,QTc,PW,还有JT.使用回归模型进行心电图变量与血清电解质之间的关联分析,糖,糖脂质,血压(BP),血液和炎症生物标志物,和疾病(例如,2型糖尿病,CAD,和中风)。制定了基于ECG和临床风险评分,并对其性能进行评估以预测CAD。经典回归和机器学习模型用于风险评分的开发。
    结果:观察到与ECG特征显著相关。RR显示关联数量最多:例如,与碳酸氢盐呈正相关,氯化物,HDL-C,和单核细胞,与葡萄糖呈负相关,胰岛素,中性粒细胞,钙,和T2D的风险。QRS与磷呈正相关,碳酸氢盐,和CAD的风险。在CAD患者中观察到QTc升高,而QTc的降低与钙和钾水平的降低有关。使用回归模型开发的风险评分优于机器学习模型。使用包含ECG特征的机器学习模型,接收器工作曲线下的面积达到0.84,糖,糖脂质,血清电解质,和心血管疾病的危险因素。CAD风险评分的前十分位数与其余十分位数的比值比为13.99。
    结论:心电图异常与血清电解质有关,糖,糖脂质,血液和炎症生物标志物。在T2D和CAD患者中也观察到这些异常。风险评分在预测CAD方面显示出良好的预测性能。
    BACKGROUND: Resting electrocardiogram (ECG) is a valuable non-invasive diagnostic tool used in clinical medicine to assess the electrical activity of the heart while the patient is resting. Abnormalities in ECG may be associated with clinical biomarkers and can predict early stages of diseases. In this study, we evaluated the association between ECG traits, clinical biomarkers, and diseases and developed risk scores to predict the risk of developing coronary artery disease (CAD) in the Qatar Biobank.
    METHODS: This study used 12-lead ECG data from 13,827 participants. The ECG traits used for association analysis were RR, PR, QRS, QTc, PW, and JT. Association analysis using regression models was conducted between ECG variables and serum electrolytes, sugars, lipids, blood pressure (BP), blood and inflammatory biomarkers, and diseases (e.g., type 2 diabetes, CAD, and stroke). ECG-based and clinical risk scores were developed, and their performance was assessed to predict CAD. Classical regression and machine-learning models were used for risk score development.
    RESULTS: Significant associations were observed with ECG traits. RR showed the largest number of associations: e.g., positive associations with bicarbonate, chloride, HDL-C, and monocytes, and negative associations with glucose, insulin, neutrophil, calcium, and risk of T2D. QRS was positively associated with phosphorus, bicarbonate, and risk of CAD. Elevated QTc was observed in CAD patients, whereas decreased QTc was correlated with decreased levels of calcium and potassium. Risk scores developed using regression models were outperformed by machine-learning models. The area under the receiver operating curve reached 0.84 using a machine-learning model that contains ECG traits, sugars, lipids, serum electrolytes, and cardiovascular disease risk factors. The odds ratio for the top decile of CAD risk score compared to the remaining deciles was 13.99.
    CONCLUSIONS: ECG abnormalities were associated with serum electrolytes, sugars, lipids, and blood and inflammatory biomarkers. These abnormalities were also observed in T2D and CAD patients. Risk scores showed great predictive performance in predicting CAD.
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  • 文章类型: Editorial
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