Disease diagnosis

疾病诊断
  • 文章类型: English Abstract
    Sleep disordered breathing (SDB) is a common sleep disorder with an increasing prevalence. The current gold standard for diagnosing SDB is polysomnography (PSG), but existing PSG techniques have some limitations, such as long manual interpretation times, a lack of data quality control, and insufficient monitoring of gas metabolism and hemodynamics. Therefore, there is an urgent need in China\'s sleep clinical applications to develop a new intelligent PSG system with data quality control, gas metabolism assessment, and hemodynamic monitoring capabilities. The new system, in terms of hardware, detects traditional parameters like nasal airflow, blood oxygen levels, electrocardiography (ECG), electroencephalography (EEG), electromyography (EMG), electrooculogram (EOG), and includes additional modules for gas metabolism assessment via end-tidal CO 2 and O 2 concentration, and hemodynamic function assessment through impedance cardiography. On the software side, deep learning methods are being employed to develop intelligent data quality control and diagnostic techniques. The goal is to provide detailed sleep quality assessments that effectively assist doctors in evaluating the sleep quality of SDB patients.
    睡眠呼吸障碍疾病(sleep disordered breathing, SDB)是常见的睡眠疾病,其患病率逐年上升。目前SDB诊断的金标准为多导睡眠监测(polysomnography, PSG),但现有的PSG监测技术存在人工判读时间长、缺乏数据质控、缺少气体代谢及血流动力学监测等问题。因此,研制具有数据质控、气体代谢及血流动力学监测功能的新型智能PSG是我国睡眠临床应用中迫切需要解决的问题。硬件方面,新系统检测鼻气流、血氧、心电、脑电、肌电、眼电等传统参数,且新增评估气体代谢功能的呼气末CO 2、O 2浓度及评估血流动力学功能的心阻抗检测模块。软件方面,基于深度学习方法研究智能数据质控、智能疾病诊断技术。目标是输出详细的睡眠质量评价报告,以有效地辅助医生充分评估SDB患者的睡眠质量。.
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  • 文章类型: Journal Article
    癌症仍然是全球死亡的主要原因之一,与常规化疗往往导致严重的副作用和有限的有效性。生物信息学和机器学习的最新进展,特别是深度学习,通过抗癌肽的预测和鉴定,为癌症治疗提供有希望的新途径。
    本研究旨在开发和评估利用二维卷积神经网络(2DCNN)的深度学习模型,以提高抗癌肽的预测准确性。解决了当前预测方法的复杂性和局限性。
    从各种公共数据库和实验研究中编辑了具有注释的抗癌活性标记的肽序列的不同数据集。使用单热编码和其他物理化学性质对序列进行预处理和编码。使用该数据集对2DCNN模型进行了训练和优化,通过准确性等指标评估性能,精度,召回,F1分数,和受试者工作特征曲线下面积(AUC-ROC)。
    与现有方法相比,所提出的2DCNN模型实现了卓越的性能,准确率为0.87,准确率为0.85,召回率为0.89,F1评分为0.87,AUC-ROC值为0.91。这些结果表明模型在准确预测抗癌肽和捕获肽序列内复杂的空间模式方面的有效性。
    这些发现证明了深度学习的潜力,特别是2DCNN,推进抗癌肽的预测。该模型显著提高了预测精度,为识别用于癌症治疗的有效候选肽提供了有价值的工具。
    进一步的研究应该集中在扩展数据集,探索替代的深度学习架构,并通过实验研究验证模型的预测。努力还应旨在优化计算效率并将这些预测转化为临床应用。
    UNASSIGNED: Cancer remains one of the leading causes of mortality globally, with conventional chemotherapy often resulting in severe side effects and limited effectiveness. Recent advancements in bioinformatics and machine learning, particularly deep learning, offer promising new avenues for cancer treatment through the prediction and identification of anticancer peptides.
    UNASSIGNED: This study aimed to develop and evaluate a deep learning model utilizing a two-dimensional convolutional neural network (2D CNN) to enhance the prediction accuracy of anticancer peptides, addressing the complexities and limitations of current prediction methods.
    UNASSIGNED: A diverse dataset of peptide sequences with annotated anticancer activity labels was compiled from various public databases and experimental studies. The sequences were preprocessed and encoded using one-hot encoding and additional physicochemical properties. The 2D CNN model was trained and optimized using this dataset, with performance evaluated through metrics such as accuracy, precision, recall, F1-score, and area under the receiver operating characteristic curve (AUC-ROC).
    UNASSIGNED: The proposed 2D CNN model achieved superior performance compared to existing methods, with an accuracy of 0.87, precision of 0.85, recall of 0.89, F1-score of 0.87, and an AUC-ROC value of 0.91. These results indicate the model\'s effectiveness in accurately predicting anticancer peptides and capturing intricate spatial patterns within peptide sequences.
    UNASSIGNED: The findings demonstrate the potential of deep learning, specifically 2D CNNs, in advancing the prediction of anticancer peptides. The proposed model significantly improves prediction accuracy, offering a valuable tool for identifying effective peptide candidates for cancer treatment.
    UNASSIGNED: Further research should focus on expanding the dataset, exploring alternative deep learning architectures, and validating the model\'s predictions through experimental studies. Efforts should also aim at optimizing computational efficiency and translating these predictions into clinical applications.
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  • 文章类型: Journal Article
    蛋白质,作为生理活动的主要执行者,是疾病诊断和治疗的关键因素。研究它们的结构,功能,和相互作用对于更好地了解疾病机制和潜在的治疗方法至关重要。DeepMind的AlphaFold2,一种深度学习蛋白质结构预测模型,已经证明非常准确,它广泛应用于诊断研究的各个方面,比如疾病生物标志物的研究,微生物致病性,抗原-抗体结构,和错义突变。因此,AlphaFold2是一种特殊的工具,可以将基础蛋白质研究与疾病诊断的突破联系起来。诊断策略的发展,以及新型治疗方法的设计和精准医学的增强。这篇综述概述了建筑,亮点,和AlphaFold2的局限性,特别强调其在免疫学等学科的诊断研究中的应用,生物化学,分子生物学,和微生物学。
    Proteins, as the primary executors of physiological activity, serve as a key factor in disease diagnosis and treatment. Research into their structures, functions, and interactions is essential to better understand disease mechanisms and potential therapies. DeepMind\'s AlphaFold2, a deep-learning protein structure prediction model, has proven to be remarkably accurate, and it is widely employed in various aspects of diagnostic research, such as the study of disease biomarkers, microorganism pathogenicity, antigen-antibody structures, and missense mutations. Thus, AlphaFold2 serves as an exceptional tool to bridge fundamental protein research with breakthroughs in disease diagnosis, developments in diagnostic strategies, and the design of novel therapeutic approaches and enhancements in precision medicine. This review outlines the architecture, highlights, and limitations of AlphaFold2, placing particular emphasis on its applications within diagnostic research grounded in disciplines such as immunology, biochemistry, molecular biology, and microbiology.
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  • 文章类型: Journal Article
    作为具有通过酶动力学催化底物功能的纳米级材料,纳米酶被认为是天然酶的潜在替代品。与基于蛋白质的酶相比,纳米酶具有制备成本低的特点,强大的活动,灵活的性能调整,和多功能功能化。这些优点使它们具有从生化传感和环境修复到医疗疗法的广泛用途。特别是在生物医学诊断中,纳米酶提供的催化信号放大的特征使它们成为检测生物标志物和疾病的新兴标记,随着近年来的快速发展。为了全面概述在这一动态领域取得的最新进展,这里提供了由纳米酶实现的生物医学诊断的概述。本文首先概述了纳米酶材料的合成,然后讨论了提高其催化活性和特异性的主要策略。随后,综述了纳米酶与生物元件结合在疾病诊断中的代表性应用,包括检测与代谢相关的生物标志物,心血管,紧张,消化系统疾病和癌症。最后,强调了纳米酶辅助生物医学诊断的一些发展趋势,并指出了相应的挑战,旨在激发未来的努力,进一步推进这一充满希望的领域。
    As nanoscale materials with the function of catalyzing substrates through enzymatic kinetics, nanozymes are regarded as potential alternatives to natural enzymes. Compared to protein-based enzymes, nanozymes exhibit attractive characteristics of low preparation cost, robust activity, flexible performance adjustment, and versatile functionalization. These advantages endow them with wide use from biochemical sensing and environmental remediation to medical theranostics. Especially in biomedical diagnosis, the feature of catalytic signal amplification provided by nanozymes makes them function as emerging labels for the detection of biomarkers and diseases, with rapid developments observed in recent years. To provide a comprehensive overview of recent progress made in this dynamic field, here an overview of biomedical diagnosis enabled by nanozymes is provided. This review first summarizes the synthesis of nanozyme materials and then discusses the main strategies applied to enhance their catalytic activity and specificity. Subsequently, representative utilization of nanozymes combined with biological elements in disease diagnosis is reviewed, including the detection of biomarkers related to metabolic, cardiovascular, nervous, and digestive diseases as well as cancers. Finally, some development trends in nanozyme-enabled biomedical diagnosis are highlighted, and corresponding challenges are also pointed out, aiming to inspire future efforts to further advance this promising field.
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  • 文章类型: Journal Article
    最近,与靶向基因治疗和诊断相关的主题在疾病研究中变得越来越重要。许多疾病的进展与特定的基因信号通路有关。因此,在各种疾病中识别精确的基因靶标对于开发有效的治疗方法至关重要。层粘连蛋白亚基β3(LAMB3),层粘连蛋白5的组成部分,在细胞外基质中起粘附蛋白的作用,在调节细胞增殖中起着至关重要的作用,迁移,和某些疾病的细胞周期。先前的研究表明,LAMB3在许多肿瘤和非肿瘤条件下高度表达,包括肾纤维化;皮肤鳞状细胞癌,甲状腺,肺,胰腺,卵巢,结肠直肠,胃,乳房,子宫颈,鼻咽,膀胱,前列腺癌;和胆管癌。相反,它在其他条件下被低估了,比如肝细胞癌,大疱性表皮松解症,和牙釉质发育不全。因此,LAMB3可能通过参与关键基因信号通路作为多种疾病的分子诊断和治疗靶点。本文就LAMB3的研究现状及其在相关疾病中的作用作一综述。
    Recently, topics related to targeted gene therapy and diagnosis have become increasingly important in disease research. The progression of many diseases is associated with specific gene signaling pathways. Therefore, the identification of precise gene targets in various diseases is crucial for the development of effective treatments. Laminin subunit beta 3 (LAMB3), a component of laminin 5, functions as an adhesive protein in the extracellular matrix and plays a vital role in regulating cell proliferation, migration, and cell cycle in certain diseases. Previous studies have indicated that LAMB3 is highly expressed in numerous tumorous and non-tumorous conditions, including renal fibrosis; squamous cell carcinoma of the skin, thyroid, lung, pancreatic, ovarian, colorectalr, gastric, breast, cervical, nasopharyngeal, bladder, prostate cancers; and cholangiocarcinoma. Conversely, it is underexpressed in other conditions, such as hepatocellular carcinoma, epidermolysis bullosa, and amelogenesis imperfecta. Consequently, LAMB3 may serve as a molecular diagnostic and therapeutic target for various diseases through its involvement in critical gene signaling pathways. This paper reviews the research status of LAMB3 and its role in related diseases.
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  • 文章类型: Journal Article
    抗癌肽(ACP)的鉴定至关重要,特别是在基于肽的癌症治疗的发展中。诸如分裂氨基酸组成(SAAC)和伪氨基酸组成(PseAAC)的经典模型缺乏特征表示的并入。这些改进提高了ACP识别的预测准确性和效率。因此,这项研究的努力是提出和开发一种基于特征提取的高级框架。因此,为了在本文中实现该目的,我们提出了扩展二肽组合物(EDPC)框架。所提出的EDPC框架通过考虑局部序列环境信息并改革CD-HIT框架以去除噪声和冗余来扩展二肽组成。为了测量准确性,我们做了几个实验。这些实验是使用四种著名的机器学习(ML)算法进行的:支持向量机(SVM),决策树(DT)随机森林(RF),和K近邻(KNN)。为了进行比较,我们使用了准确性,特异性,灵敏度,精度,召回,和F1分数作为评价标准。使用统计显著性检验进一步评估了所提出的框架的可靠性。因此,提出的EDPC框架表现出比SAAC和PseAAC增强的性能,其中SVM模型提供了96的最高精度。6%,特异性显著增强,灵敏度,精度,和多个数据集的F1分数。由于结合了增强的特征表示以及结合了局部和全局序列简档,因此提出的EDPC实现了更高的分类性能。所提出的框架可以处理噪声并且还可以复制特征。这些伴随着广泛的特征表示。最后,我们提出的框架可用于ACP鉴定至关重要的临床应用.未来的工作将包括扩展到更多种类的数据集,结合三级结构信息,并使用深度学习技术来改进所提出的EDPC。
    The identification of anticancer peptides (ACPs) is crucial, especially in the development of peptide-based cancer therapy. The classical models such as Split Amino Acid Composition (SAAC) and Pseudo Amino Acid Composition (PseAAC) lack the incorporation of feature representation. These advancements improve the predictive accuracy and efficiency of ACP identification. Thus, the effort of this research is to propose and develop an advanced framework based on feature extraction. Thus, to achieve this objective herein we propose an Extended Dipeptide Composition (EDPC) framework. The proposed EDPC framework extends the dipeptide composition by considering the local sequence environment information and reforming the CD-HIT framework to remove noise and redundancy. To measure the accuracy, we have performed several experiments. These experiments were employed using four famous machine learning (ML) algorithms named; Support Vector Machine (SVM), Decision Tree (DT), Random Forest (RF), and K Nearest Neighbor (KNN). For comparisons, we have used accuracy, specificity, sensitivity, precision, recall, and F1-Score as evaluation criteria. The reliability of the proposed framework is further evaluated using statistical significance tests. As a result, the proposed EDPC framework exhibited enhanced performance than SAAC and PseAAC, where the SVM model delivered the highest accuracy of 96. 6% and significant enhancements in specificity, sensitivity, precision, and F1-score over multiple datasets. Due to the incorporation of enhanced feature representation and the incorporation of local and global sequence profiles proposed EDPC achieves higher classification performance. The proposed frameworks can deal with noise and also duplicating features. These are accompanied by a wide range of feature representations. Finally, our proposed framework can be used for clinical applications where ACP identification is essential. Future works will include extending to a larger variety of datasets, incorporating tertiary structural information, and using deep learning techniques to improve the proposed EDPC.
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  • 文章类型: Journal Article
    代谢组学和人工智能(AI)形成了协同合作关系。代谢组学生成包含数百至数千个具有复杂关系的代谢物的大型数据集。AI,旨在通过计算建模来模仿人类智能,拥有非凡的大数据分析能力。在这次审查中,在系统生物学和人类健康的背景下,我们提供了AI在代谢组学研究中的方法和应用的最新概述。我们首先介绍AI的概念,历史,以及机器学习和深度学习的关键算法,总结他们的长处和短处。然后,我们讨论在代谢组学分析的不同方面成功使用AI的研究,包括分析检测,数据预处理,生物标志物发现,预测建模,和多组学数据集成。最后,我们讨论了在这个快速发展的领域中现有的挑战和未来的前景。尽管存在局限性和挑战,代谢组学和人工智能的结合为增强人类健康的革命性进步带来了巨大的希望。
    Metabolomics and artificial intelligence (AI) form a synergistic partnership. Metabolomics generates large datasets comprising hundreds to thousands of metabolites with complex relationships. AI, aiming to mimic human intelligence through computational modeling, possesses extraordinary capabilities for big data analysis. In this review, we provide a recent overview of the methodologies and applications of AI in metabolomics studies in the context of systems biology and human health. We first introduce the AI concept, history, and key algorithms for machine learning and deep learning, summarizing their strengths and weaknesses. We then discuss studies that have successfully used AI across different aspects of metabolomic analysis, including analytical detection, data preprocessing, biomarker discovery, predictive modeling, and multi-omics data integration. Lastly, we discuss the existing challenges and future perspectives in this rapidly evolving field. Despite limitations and challenges, the combination of metabolomics and AI holds great promises for revolutionary advancements in enhancing human health.
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  • 文章类型: Journal Article
    医疗保健对于患者护理至关重要,因为它为维持和恢复健康提供了至关重要的服务。随着医疗技术的发展,尖端的工具有助于更快的诊断和更有效的患者治疗。在大流行的时代,物联网(IoT)通过周围的链接设备创建有关患者的大量数据,然后对其进行分析以估计患者的当前状态,从而为患者安全监测问题提供了潜在的解决方案。利用基于物联网的元启发式算法可以对患者进行远程监控,从而及时诊断和改善护理。元启发式算法是成功的,弹性,并有效解决现实世界的增强,聚类,预测,和分组。医疗保健组织需要一种有效的方法来处理大数据,因为这些数据的普遍性使得分析诊断变得具有挑战性。由于不平衡的数据和过拟合问题,在医疗诊断中使用的当前技术具有局限性。
    本研究介绍了粒子群优化和卷积神经网络,将其用作物联网中广泛数据分析的元启发式优化方法,以监测患者的健康状况。
    粒子群优化用于优化研究中使用的数据。收集包括心脏风险预测的糖尿病诊断模型的信息。粒子群优化和卷积神经网络(PSO-CNN)结果有效地进行疾病预测。支持向量机已用于基于将收集的数据分类为糖尿病的预计异常和正常范围来预测心脏病发作的可能性。
    模拟结果表明,用于预测糖尿病疾病的PSO-CNN模型的准确性提高了92.6%,精度92.5%,召回率达到93.2%,F1得分94.2%,和量化误差4.1%。
    建议的方法可用于鉴定癌细胞。
    UNASSIGNED: Healthcare is crucial to patient care because it provides vital services for maintaining and restoring health. As healthcare technology evolves, cutting-edge tools facilitate faster diagnosis and more effective patient treatment. In the present age of pandemics, the Internet of Things (IoT) offers a potential solution to the problem of patient safety monitoring by creating a massive quantity of data about the patient through the linked devices around them and then analyzing it to estimate the patient\'s current status. Utilizing the IoT-based meta-heuristic algorithm allows patients to be remotely monitored, resulting in timely diagnosis and improved care. Meta-heuristic algorithms are successful, resilient, and effective in solving real-world enhancement, clustering, predicting, and grouping. Healthcare organizations need an efficient method for dealing with big data since the prevalence of such data makes it challenging to analyze for diagnosis. The current techniques used in medical diagnostics have limitations due to imbalanced data and the overfitting issue.
    UNASSIGNED: This study introduces the particle swarm optimization and convolutional neural network to be used as a meta-heuristic optimization method for extensive data analysis in the IoT to monitor patients\' health conditions.
    UNASSIGNED: Particle Swarm Optimization is used to optimize the data used in the study. Information for a diabetes diagnosis model that includes cardiac risk forecasting is collected. Particle Swarm Optimization and Convolutional Neural Networks (PSO-CNN) results effectively make illness predictions. Support Vector Machine has been used to predict the possibility of a heart attack based on the classification of the collected data into projected abnormal and normal ranges for diabetes.
    UNASSIGNED: The results of the simulations reveal that the PSO-CNN model used to predict diabetic disease increased in accuracy by 92.6%, precision by 92.5%, recall by 93.2%, F1-score by 94.2%, and quantization error by 4.1%.
    UNASSIGNED: The suggested approach could be applied to identify cancer cells.
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  • 文章类型: Journal Article
    螺旋藻,属于藻类(Chromista),Omycota,Pythiales,菊科和疫霉,是一种导致水果褐色腐烂的检疫病原体,茎腐烂和根腐病,以及其他可能损害城市园林绿化中几种树种的症状。因此,疾病管理需要快速准确的诊断。本研究使用重组酶聚合酶扩增(RPA)结合CRISPR/Cas12a系统来鉴定螺旋藻。该测试表现出高特异性和灵敏度,可以检测10pg。在37℃下20分钟内的螺旋藻基因组DNA的μL-1。通过蓝光激发荧光团,测试结果是可见的。该开创性测试能够检测人工接种的杜鹃花叶中的螺旋藻。本研究中开发的RPA-CRISPR/Cas12a检测试验的特点是其灵敏度,效率,和方便。对螺旋藻的早期发现和控制对于保护城市绿色覆盖物种至关重要。
    Phytopythium helicoides, which belongs to the algae (Chromista), Oomycota, Pythiales, Pythiaceae and Phytophthora, is a quarantine pathogen that causes brown rot of fruits, stem rot and root rot, along with other symptoms that can damage several tree species in urban landscaping. Therefore, disease management requires rapid and accurate diagnosis. The present study used recombinase polymerase amplification (RPA) in conjunction with the CRISPR/Cas12a system to identify P. helicoides. The test exhibited high specificity and sensitivity and could detect 10 pg.µL-1 of P. helicoides genomic DNA at 37 ℃ within 20 minutes. The test results were visible by excitation of fluorophores by blue light. This groundbreaking test is able to detect P. helicoides in artificially inoculated Rhododendron leaves. The RPA-CRISPR/Cas12a detection assay developed in this study is characterized by its sensitivity, efficiency, and convenience. Early detection and control of P. helicoides is crucial for the protection of urban green cover species.
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  • 文章类型: Journal Article
    智能医疗通过整合数据驱动的方法推动了医疗行业的发展。人工智能和机器学习提供了显著的进步,但是这种应用缺乏透明度和可解释性。为了克服这些限制,可解释AI(EXAI)提供了一个有希望的结果。本文将EXAI应用于智能医疗的疾病诊断。本文结合迁移学习的方法,视觉变压器,和可解释的人工智能,并设计了一种综合方法来预测疾病及其严重程度。在阿尔茨海默病的数据集上评估结果。结果分析比较了迁移学习模型与迁移学习集成模型和视觉变换器的性能。为了培训,选择InceptionV3,VGG19,Resnet50和Densenet121迁移学习模型与视觉转换器进行融合。结果比较了ADNI数据集上两种模型的性能:迁移学习(TL)模型和与视觉转换器(ViT)结合的集成迁移学习(EnsembleTL)模型。对于TL模型,准确率为58%,精度为52%,召回率为42%,F1分数为44%。然而,具有ViT的EnsembleTL模型显示出显着提高的性能,即,96%的准确度,94%的精度,ADNI数据集上90%的召回和92%的F1评分。这显示了集成模型相对于迁移学习模型的有效性。
    Smart healthcare has advanced the medical industry with the integration of data-driven approaches. Artificial intelligence and machine learning provided remarkable progress, but there is a lack of transparency and interpretability in such applications. To overcome such limitations, explainable AI (EXAI) provided a promising result. This paper applied the EXAI for disease diagnosis in the advancement of smart healthcare. The paper combined the approach of transfer learning, vision transformer, and explainable AI and designed an ensemble approach for prediction of disease and its severity. The result is evaluated on a dataset of Alzheimer\'s disease. The result analysis compared the performance of transfer learning models with the ensemble model of transfer learning and vision transformer. For training, InceptionV3, VGG19, Resnet50, and Densenet121 transfer learning models were selected for ensembling with vision transformer. The result compares the performance of two models: a transfer learning (TL) model and an ensemble transfer learning (Ensemble TL) model combined with vision transformer (ViT) on ADNI dataset. For the TL model, the accuracy is 58 %, precision is 52 %, recall is 42 %, and the F1-score is 44 %. Whereas, the Ensemble TL model with ViT shows significantly improved performance i.e., 96 % of accuracy, 94 % of precision, 90 % of recall and 92 % of F1-score on ADNI dataset. This shows the efficacy of the ensemble model over transfer learning models.
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