Cardiac disease

心脏病
  • 文章类型: Journal Article
    强直性肌营养不良2型(DM2)是由CNBP基因内含子1中的CCTG重复扩增引起的显性遗传多系统疾病。尽管在过去的二十年中,全世界已诊断出超过1500名DM2患者,我们对DM2患者预期寿命缩短的临床印象以前没有研究过.
    这项观察性研究的目的是确定基因证实的DM2患者的预期寿命和死亡原因。
    我们在2000年至2023年之间的荷兰神经肌肉数据库中确定了所有患有DM2的死亡患者的数据。确定了患者的年龄和死亡原因以及终生的临床特征。通过使用具有荷兰电子统计数据库(CBSStatLine)的预后队列预期寿命(CLE)和时期预期寿命(PLE)数据的寿命表,将DM2的死亡年龄与普通人群进行了比较。
    在荷兰DM2队列中确定了26名死亡患者(n=125)。与荷兰性别和年龄匹配的CLE(78.1岁)和PLE(82.1岁)相比,DM2的中位死亡年龄(70.9岁)显着降低。死亡的主要原因是心脏病(31%)和肺炎(27%)。7名患者(27%)在死亡时患有恶性肿瘤。
    这些结果为DM2的表型提供了新的见解。DM2患者的预期寿命减少,可能归因于多种原因,包括心脏病风险增加,肺炎,和恶性肿瘤。预期寿命显著缩短的发生对临床实践有影响,并可能成为高级护理计划的基础。包括临终关怀,优化DM2患者及其家人的生活质量。应该在更大的队列中进行研究,以证实这些发现,并更多地了解DM2的自然过程。
    UNASSIGNED: Myotonic Dystrophy type 2 (DM2) is a dominantly inherited multisystem disease caused by a CCTG repeat expansion in intron 1 of the CNBP gene. Although in the last two decades over 1500 patients with DM2 have been diagnosed worldwide, our clinical impression of a reduced life expectancy in DM2 has not been investigated previously.
    UNASSIGNED: The aim of this observational study was to determine the life expectancy and the causes of death in patients with genetically confirmed DM2.
    UNASSIGNED: We identified the data of all deceased patients with DM2 in the Dutch neuromuscular database between 2000 and 2023. Ages and causes of death and the patients\' clinical features during lifetime were determined. Age of death in DM2 was compared to the general population by using life tables with prognostic cohort life expectancy (CLE) and period life expectancy (PLE) data of the Dutch electronic database of statistics (CBS StatLine).
    UNASSIGNED: Twenty-six deceased patients were identified in the Dutch DM2 cohort (n = 125). Median age of death in DM2 (70.9 years) was significantly lower compared to sex- and age-matched CLE (78.1 years) and PLE (82.1 years) in the Netherlands. Main causes of death were cardiac diseases (31%) and pneumonia (27%). Seven patients (27%) had a malignancy at the time of death.
    UNASSIGNED: These results provide new insights into the phenotype of DM2. Life expectancy in patients with DM2 is reduced, possibly attributable to multiple causes including increased risk of cardiac disease, pneumonia, and malignancies. The occurrence of a significantly reduced life expectancy has implications for clinical practice and may form a basis for advanced care planning, including end-of-life care, to optimize quality of life for patients with DM2 and their family. Research in larger cohorts should be done to confirm these findings and to ascertain more about the natural course in DM2.
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  • 文章类型: Journal Article
    目的:钠-葡萄糖协同转运蛋白2抑制剂(SGLT2i)以肾近端小管中钠和葡萄糖的重吸收为目标,以降低血糖水平。然而,SGLT2i的临床随机对照试验产生了不一致的结果,需要进一步研究它们对特定心脏和肾脏疾病的功效和安全性。
    方法:选择“尿钠”作为SGLT2i的下游生物标志物。从全基因组关联研究数据中提取单核苷酸多态性作为工具变量。然后对心脏和肾脏疾病以及潜在的不良事件进行孟德尔随机化分析。SGLT2i对这些疾病的因果效应是根据逆方差加权结果确定的,其次是敏感性和多效性测试。
    结果:SGLT2i对肾病综合征具有显着的保护作用(比值比[OR]0.0011,95%置信区间[CI]0.000-0.237),慢性肾小球肾炎(OR0.0002,95%CI0.000-0.21),和高血压肾病(OR0.0003,95%CI0.000-0.785)。在SGLT2i与心脏病或潜在不良事件之间未观察到因果效应。
    结论:SGLT2i可以作为肾病综合征的保护因子,慢性肾小球肾炎,和高血压肾病。
    OBJECTIVE: Sodium-glucose cotransporter 2 inhibitors (SGLT2i) target the reabsorption of sodium and glucose in the kidney proximal tubules to reduce blood sugar levels. However, clinical randomized controlled trials on SGLT2i have yielded inconsistent results, necessitating further research into their efficacy and safety for specific cardiac and renal diseases.
    METHODS: \"Sodium in urine\" was selected as a downstream biomarker of SGLT2i. Single nucleotide polymorphisms were extracted from genome-wide association study data as instrumental variables. Mendelian randomization analysis was then conducted for cardiac and renal diseases and potential adverse events. The causal effects of SGLT2i on these diseases were determined based on inverse variance weighted results, followed by sensitivity and pleiotropy tests.
    RESULTS: SGLT2i had a significant protective effect against nephrotic syndrome (odds ratio [OR] 0.0011, 95% confidence interval [CI] 0.000-0.237), chronic glomerulonephritis (OR 0.0002, 95% CI 0.000-0.21), and hypertensive nephropathy (OR 0.0003, 95% CI 0.000-0.785). No causal effects were observed between SGLT2i and cardiac diseases or potential adverse events.
    CONCLUSIONS: SGLT2i can act as protective factors against nephrotic syndrome, chronic glomerulonephritis, and hypertensive nephropathy.
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  • 文章类型: Published Erratum
    [这更正了文章DOI:10.3389/fvets.2024.1327081。].
    [This corrects the article DOI: 10.3389/fvets.2024.1327081.].
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  • 文章类型: Journal Article
    背景:人工智能中偏见的存在引起了越来越多的关注,随着算法性能的不平等在刑事司法领域暴露出来,教育,和福利服务。在医疗保健方面,不同人口群体算法的不公平表现可能会扩大健康不平等。
    目标:这里,我们识别和表征心脏病算法中的偏差,专门研究心力衰竭管理中使用的算法。
    方法:阶段1涉及PubMed和WebofScience的文献检索与心脏机器学习(ML)算法相关的关键术语。评估了构建ML模型以预测心脏病的论文,以关注模型性能中的人口统计学偏差,并为我们的调查保留了开源数据集。确定了两个开源数据集:(1)加州大学欧文分校心力衰竭数据集和(2)加州大学欧文分校冠状动脉疾病数据集。我们复制了这些数据集的现有算法,测试了他们在算法性能上的性别偏见,并评估了一系列补救技术在减少不平等方面的功效。特别注意假阴性率(FNR),由于诊断不足和错过治疗机会的临床意义。
    结果:在第一阶段,我们的文献检索返回127篇论文,有60篇达到了全面审查的标准,只有3篇论文强调了算法性能的性别差异。在报道性的报纸上,在数据集中,女性患者的代表性始终偏低.没有论文调查种族或民族差异。在第二阶段,我们再现了文献中报道的算法,数据集1的平均准确度为84.24%(SD3.51%),数据集2的平均准确度为85.72%(SD1.75%)(随机森林模型)。对于数据集1,在16个实验中的13个中,女性患者的FNR明显更高。达到阈值有统计学意义(-17.81%~-3.37%;P<.05)。在16个实验中的13个实验中,男性患者的假阳性率差异较小(-0.48%至9.77%;P<0.05)。我们观察到男性患者的疾病预测过高(假阳性率较高),女性患者的疾病预测过低(FNR较高)。特征重要性的性别差异表明,特征选择需要根据人口统计进行调整。
    结论:我们的研究揭示了心脏ML研究的显著差距,强调女性患者算法的性能不佳在已发表的文献中被忽视了。我们的研究量化了算法性能中的性别差异,并探讨了偏见的几种来源。我们在用于训练算法的数据集中发现女性患者的代表性不足,识别出模型错误率中的性别偏见,并证明了一系列补救技术无法解决存在的不平等问题。
    BACKGROUND: The presence of bias in artificial intelligence has garnered increased attention, with inequities in algorithmic performance being exposed across the fields of criminal justice, education, and welfare services. In health care, the inequitable performance of algorithms across demographic groups may widen health inequalities.
    OBJECTIVE: Here, we identify and characterize bias in cardiology algorithms, looking specifically at algorithms used in the management of heart failure.
    METHODS: Stage 1 involved a literature search of PubMed and Web of Science for key terms relating to cardiac machine learning (ML) algorithms. Papers that built ML models to predict cardiac disease were evaluated for their focus on demographic bias in model performance, and open-source data sets were retained for our investigation. Two open-source data sets were identified: (1) the University of California Irvine Heart Failure data set and (2) the University of California Irvine Coronary Artery Disease data set. We reproduced existing algorithms that have been reported for these data sets, tested them for sex biases in algorithm performance, and assessed a range of remediation techniques for their efficacy in reducing inequities. Particular attention was paid to the false negative rate (FNR), due to the clinical significance of underdiagnosis and missed opportunities for treatment.
    RESULTS: In stage 1, our literature search returned 127 papers, with 60 meeting the criteria for a full review and only 3 papers highlighting sex differences in algorithm performance. In the papers that reported sex, there was a consistent underrepresentation of female patients in the data sets. No papers investigated racial or ethnic differences. In stage 2, we reproduced algorithms reported in the literature, achieving mean accuracies of 84.24% (SD 3.51%) for data set 1 and 85.72% (SD 1.75%) for data set 2 (random forest models). For data set 1, the FNR was significantly higher for female patients in 13 out of 16 experiments, meeting the threshold of statistical significance (-17.81% to -3.37%; P<.05). A smaller disparity in the false positive rate was significant for male patients in 13 out of 16 experiments (-0.48% to +9.77%; P<.05). We observed an overprediction of disease for male patients (higher false positive rate) and an underprediction of disease for female patients (higher FNR). Sex differences in feature importance suggest that feature selection needs to be demographically tailored.
    CONCLUSIONS: Our research exposes a significant gap in cardiac ML research, highlighting that the underperformance of algorithms for female patients has been overlooked in the published literature. Our study quantifies sex disparities in algorithmic performance and explores several sources of bias. We found an underrepresentation of female patients in the data sets used to train algorithms, identified sex biases in model error rates, and demonstrated that a series of remediation techniques were unable to address the inequities present.
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  • 文章类型: Journal Article
    心血管疾病(CVD)和精神健康障碍导致大量的医疗保健费用。随着心脏病患者日益复杂,需要赋予患者权力并使患者能够参与康复的生活方式方法。Siddha自我探究冥想的传统泰米尔语医学实践通过直观的生活方式转变来实现整体健康。我们描述了4位复杂的心脏病患者,他们探索了基于Siddha的饥饿感恩体验(HUGE)正念饮食,并报告了5000年历史的世俗Siddha医学传统所概述的乐观水平和更深刻的生活体验。我们不能排除建议和安慰剂效应在描述性系列中的作用。然而,身体健康和情绪健康的同时改善,以及对不可预见的逆境表现出的韧性,表明这是Uvagai,西达达更高意识的真正本质。Uvagai是一种极端的幸福,可以通过很少的正规培训来普遍获得,并以积极的心理学为目标来改善福祉。虽然流动和幸福状态是短暂的先验体验,尽管有年龄和合并症,但Uvagai在CVD中可能更为深刻和治疗。寻找Uvagai可能会克服健康差距,包括农村,少数,和贫困人群为了更好的健康。巨大的允许CVD患者安全地参与Uvagai,体验更高的意识,直观地维持生活方式的转变。
    Cardiovascular disease (CVD) and mental health disorders contribute to significant healthcare expenses. Lifestyle approaches that empower and enable patients to participate in their recovery are needed with the increasing complexity of cardiac patients. Traditional Tamil medical practice of Siddha self-inquiry meditation targets holistic health through intuitive lifestyle transformation. We describe 4 complex cardiac patients who explored Siddha based Hunger Gratitude Experience (HUGE) mindful eating and reported elevated levels of optimism and deeper experience of life as outlined by the 5000-year-old secular Siddha medical tradition. We cannot exclude the role of suggestion and placebo effect in descriptive series. However, the simultaneous improvement in physical health and emotional wellbeing along with demonstrated resilience against unforeseen adversities suggests this is Uvagai, the true essence of Siddha higher consciousness. Uvagai is extreme happiness and may be accessible universally with little formal training and targets positive psychology to improve wellbeing. While flow and bliss states are transient transcendental experiences, Uvagai may be more profound and therapeutic in CVD despite age and comorbidities. Seeking Uvagai can potentially overcome health disparities, including rural, minority, and underprivileged populations for better health. HUGE allows CVD patients to safely engage in Uvagai, experience higher consciousness and intuitively sustain lifestyle transformation.
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  • 文章类型: Journal Article
    背景:本研究旨在评估心脑血管疾病(CCD)对住院1型糖尿病(T1DM)患者的负担和影响。
    方法:这是2016年至2019年美国国家住院患者样本中T1DM伴或不伴CCD患者的回顾性全国队列研究。住院死亡率,停留时间(LoS),并确定了医疗费用。
    结果:总共59,860例T1DM患者有CCD的初步诊断,1,382,934例没有。与无CCD患者相比,有CCD患者的中位数LoS更长(4.6vs.3天)。与没有CCD的患者相比,T1DM和CCD患者的住院死亡率更高(4.1%vs.1.1%,p<0.001)。所有T1DM合并CCD患者的估计总护理费用约为3.26亿美元。与非CCD入院患者相比,颅内出血的调整后死亡率最高(OR17.37,95CI12.68-23.79),肺栓塞(OR4.39,95CI2.70-7.13),心内膜炎(OR3.46,95CI1.22-9.84),急性心肌梗死(OR2.31,95CI1.92-2.77),和中风(OR1.47,95CI1.04-2.09)。
    结论:T1DM患者的CCD负担是巨大的,并且与医院死亡率和高医疗支出显著相关。
    BACKGROUND: This study aimed to evaluate the burden and impact of cardiac and cerebrovascular disease (CCD) on hospital inpatients with type 1 diabetes mellitus (T1DM).
    METHODS: This is a retrospective nationwide cohort study of people with T1DM with or without CCD in the US National Inpatient Sample between 2016 and 2019. The in-hospital mortality rates, length of stay (LoS), and healthcare costs were determined.
    RESULTS: A total of 59,860 T1DM patients had a primary diagnosis of CCD and 1,382,934 did not. The median LoS was longer for patients with CCD compared to no CCD (4.6 vs. 3 days). Patients with T1DM and CCD had greater in-hospital mortality compared to those without CCD (4.1% vs. 1.1%, p < 0.001). The estimated total care cost for all patients with T1DM with CCD was approximately USD 326 million. The adjusted odds of mortality compared to patients with non-CCD admission was greatest for intracranial hemorrhage (OR 17.37, 95%CI 12.68-23.79), pulmonary embolism (OR 4.39, 95%CI 2.70-7.13), endocarditis (OR 3.46, 95%CI 1.22-9.84), acute myocardial infarction (OR 2.31, 95%CI 1.92-2.77), and stroke (OR 1.47, 95%CI 1.04-2.09).
    CONCLUSIONS: The burden of CCD in patients with T1DM is substantial and significantly associated with increased hospital mortality and high healthcare expenditures.
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  • 文章类型: Journal Article
    在过去的四十年里,心钠肽改变了我们对慢性心力衰竭患者的认识。从心脏作为一个有自己的激素和受体的内分泌器官的发现,该系统的生物化学和生理学已转化为心血管疾病中有用的生物标志物和药物靶标。这篇综述的目的是为不在该领域工作的医学研究人员提供对该系统及其分子组件的简单介绍,它的定量方法,及其生理学和病理生理学。希望此概述可能有助于扩大内分泌心脏的知识,目的是激发其他医学研究领域的研究人员寻求系统的新方面,在转化科学和临床实践中。
    Over the last four decades, cardiac natriuretic peptides have changed our understanding of patients with chronic heart failure. From the discovery of the heart as an endocrine organ with its own hormones and receptors, the biochemistry and physiology of the system have been translated into useful biomarkers and drug targets in cardiovascular disease. The purpose of this review is to provide medical researchers not working in the field with a simple introduction to the system and its molecular components, its quantitative methods, and its physiology and pathophysiology. The hope is that this overview may help to broaden the knowledge of the endocrine heart with the intent that researchers in other areas of medical research will be inspired to seek new facets of the system, both in translational science and in clinical practice.
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  • 文章类型: Journal Article
    心脏病发作是一种威胁生命的疾病,主要是由于冠心病导致人类死亡。检测心脏病的风险是医学科学中最重要的问题之一,可以通过早期发现和适当的医疗管理来预防和治疗;它还可以帮助预测大量的医疗需求并减少治疗费用。通过机器学习(ML)算法预测心脏病的发生已成为医疗保健行业的重要工作。这项研究旨在创建一个这样的系统,用于预测患者是否可能发生心脏病发作,通过分析各种数据源,包括电子健康记录和医院诊所的临床诊断报告。ML被用作计算机从数据中学习以便对新数据集进行预测的过程。为预测数据分析而创建的算法通常用于商业目的。本文提供了一个概述,以预测应用了许多ML方法和技术的心脏病发作的可能性。为了提高医疗诊断,本文比较了各种算法,如随机森林,回归模型,K-最近邻填补(KNN),朴素贝叶斯算法等。研究发现,随机森林算法在预测心脏病发作风险方面提供了88.52%的较好精度,这可能预示着心血管疾病诊断和治疗的革命。
    Heart attack is a life-threatening condition which is mostly caused due to coronary disease resulting in death in human beings. Detecting the risk of heart diseases is one of the most important problems in medical science that can be prevented and treated with early detection and appropriate medical management; it can also help to predict a large number of medical needs and reduce expenses for treatment. Predicting the occurrence of heart diseases by machine learning (ML) algorithms has become significant work in healthcare industry. This study aims to create a such system that is used for predicting whether a patient is likely to develop heart attacks, by analysing various data sources including electronic health records and clinical diagnosis reports from hospital clinics. ML is used as a process in which computers learn from data in order to make predictions about new datasets. The algorithms created for predictive data analysis are often used for commercial purposes. This paper presents an overview to forecast the likelihood of a heart attack for which many ML methodologies and techniques are applied. In order to improve medical diagnosis, the paper compares various algorithms such as Random Forest, Regression models, K-nearest neighbour imputation (KNN), Naïve Bayes algorithm etc. It is found that the Random Forest algorithm provides a better accuracy of 88.52% in forecasting heart attack risk, which could herald a revolution in the diagnosis and treatment of cardiovascular illnesses.
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  • 文章类型: Systematic Review
    背景:直接口服抗凝剂(DOAC)已广泛应用于成人血栓形成的预防。然而,DOAC对需要抗凝治疗的先天性或获得性心脏病患儿的疗效尚不清楚.
    方法:我们系统地搜索了PubMed的数据库,Embase,还有Cochrane图书馆,以及ClinicalTrials.gov注册表和世界卫生组织的国际临床试验注册平台,直到2024年6月,以确定相关的随机临床试验(RCT)。如果纳入研究的数量少于5项,我们进行了叙述性审查,以评估DOAC在儿科患者中的作用。
    结果:纳入4项研究。在宇宙研究中,2%的利伐沙班组和9%的阿司匹林组发生血栓事件,36%和41%的出血事件,分别。ENNOBLE-ATE研究显示,依多沙班组无血栓栓塞事件,SOC组为1.7%(率差异:-0.07%,95%CI:-0.22至0.07%)。大出血率相似(率差异:-0.03%,95%CI:-0.18~0.12%)。SAXOPHONE试验显示两组均无血栓栓塞事件,大出血发生率相似(-0.8%,95%CI:-8.1至3.3%)。在多样性审判中,81%的达比加群患者达到了主要结局,而SOC组为59.3%(赔率:0.342,95%CI:0.081-1.229)。两组均无大出血。
    结论:现有研究表明,DOAC的使用有望成为预防和治疗患有心脏病的儿科患者血栓栓塞的有效和安全的替代方案。
    BACKGROUND: Direct oral anticoagulants (DOACs) have been widely applied in adults for thrombosis prophylaxis. However, the effect of DOACs in pediatric patients with congenital or acquired heart diseases who need anticoagulation therapy remains unclear.
    METHODS: We systematically searched the databases of PubMed, Embase, and the Cochrane Library, as well as the ClinicalTrials.gov registry and the World Health Organization\'s International Clinical Trials Registry Platform until June 2024 to identify relevant randomized clinical trials (RCTs). If the number of included studies was less than 5, we performed a narrative review to assess the effect of DOACs in pediatric patients.
    RESULTS: Four studies were included. In the UNIVERSE study, thrombotic events occurred in 2% of the rivaroxaban group and 9% of the aspirin group, with bleeding events in 36% and 41%, respectively. The ENNOBLE-ATE study showed no thromboembolic events in the edoxaban group and 1.7% in the SOC group (rate difference: -0.07%, 95% CI: -0.22 to 0.07%). Major bleeding rates were similar (rate difference: -0.03%, 95% CI: -0.18 to 0.12%). The SAXOPHONE trial showed no thromboembolic events in either group and similar major bleeding rates (-0.8%, 95% CI: -8.1 to 3.3%). In the DIVERSITY trial, 81% of dabigatran patients achieved the primary outcome versus 59.3% in the SOC group (Odds ratio: 0.342, 95% CI: 0.081-1.229). No major bleeding occurred in either group.
    CONCLUSIONS: Existing studies suggest that the use of DOACs hold promise as an effective and safe alternative for preventing and treating thromboembolism in pediatric patients with heart conditions.
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