brain disorder

脑部疾病
  • 文章类型: Journal Article
    在这项研究中,我们调查了19p12基因座中的反复拷贝数变异(CNVs),与神经发育障碍有关。这个基因座中的两个基因,ZNF675和ZNF681,在灵长类动物中通过基因复制产生,并且它们在人群中的几种病理性CNV中的存在表明,这些基因中的任何一个或两个都是正常人脑发育所必需的。ZNF675和ZNF681是Krüppel相关盒锌指(KZNF)蛋白家族的成员,一类对特定基因组区域的表观遗传沉默很重要的转录抑制子。人类基因组中存在约170种灵长类动物特异性KZNFs。尽管KZNFs主要与抑制逆转录转座子衍生的DNA有关,有证据表明,它们可以用于其他基因调控过程。我们表明ZNF675的遗传缺失会导致皮质类器官的发育缺陷,我们的数据表明,观察到的神经发育表型的一部分是由ZNF675对神经发育基因Hes家族BHLH转录因子1(HES1)启动子的基因调节作用介导的。我们还发现了最近进化的与神经系统疾病有关的基因调控的证据,小脑素1和sestrin3.我们显示ZNF675干扰HES1自抑制,维持神经祖细胞所必需的过程。作为一些KZNFs如何整合到先前存在的基因表达网络中的一个突出例子,这些发现提示ZNF675的出现引起了HES1自动调节平衡的改变.ZNF675CNV与人类发育障碍和ZNF675介导的神经发育基因调节的关联表明,它已发展成为人脑发育的重要因素。
    In this study, we investigated recurrent copy number variations (CNVs) in the 19p12 locus, which are associated with neurodevelopmental disorders. The two genes in this locus, ZNF675 and ZNF681, arose via gene duplication in primates, and their presence in several pathological CNVs in the human population suggests that either or both of these genes are required for normal human brain development. ZNF675 and ZNF681 are members of the Krüppel-associated box zinc finger (KZNF) protein family, a class of transcriptional repressors important for epigenetic silencing of specific genomic regions. About 170 primate-specific KZNFs are present in the human genome. Although KZNFs are primarily associated with repressing retrotransposon-derived DNA, evidence is emerging that they can be co-opted for other gene regulatory processes. We show that genetic deletion of ZNF675 causes developmental defects in cortical organoids, and our data suggest that part of the observed neurodevelopmental phenotype is mediated by a gene regulatory role of ZNF675 on the promoter of the neurodevelopmental gene Hes family BHLH transcription factor 1 (HES1). We also find evidence for the recently evolved regulation of genes involved in neurological disorders, microcephalin 1 and sestrin 3. We show that ZNF675 interferes with HES1 auto-inhibition, a process essential for the maintenance of neural progenitors. As a striking example of how some KZNFs have integrated into preexisting gene expression networks, these findings suggest the emergence of ZNF675 has caused a change in the balance of HES1 autoregulation. The association of ZNF675 CNV with human developmental disorders and ZNF675-mediated regulation of neurodevelopmental genes suggests that it evolved into an important factor for human brain development.
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  • 文章类型: Journal Article
    功能网络(FN)分析在发现对脑功能的见解和理解各种脑部疾病的病理生理学中起着关键作用。本文重点介绍了从功能磁共振成像(fMRI)数据中导出脑FN的经典和先进方法。我们系统地回顾了他们的基本原则,优势,缺点,和相互关系,包括静态和动态FN提取方法。在静态FN提取的背景下,我们提出了假设驱动的方法,如基于感兴趣区域(ROI)的方法以及数据驱动的方法,包括矩阵分解,聚类,和深度学习。对于动态FN提取,关于时变FN的估计和FN状态的后续计算,研究了基于窗口和无窗口的方法。我们还讨论了各种方法的适用范围和未来改进的途径。
    Functional network (FN) analyses play a pivotal role in uncovering insights into brain function and understanding the pathophysiology of various brain disorders. This paper focuses on classical and advanced methods for deriving brain FNs from functional magnetic resonance imaging (fMRI) data. We systematically review their foundational principles, advantages, shortcomings, and interrelations, encompassing both static and dynamic FN extraction approaches. In the context of static FN extraction, we present hypothesis-driven methods such as region of interest (ROI)-based approaches as well as data-driven methods including matrix decomposition, clustering, and deep learning. For dynamic FN extraction, both window-based and windowless methods are surveyed with respect to the estimation of time-varying FN and the subsequent computation of FN states. We also discuss the scope of application of the various methods and avenues for future improvements.
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  • 文章类型: Journal Article
    目的:脑部疾病是全球主要的死亡率问题之一,它们的早期发现对治愈至关重要。机器学习,特别是深度学习,是一种越来越多地用于检测和诊断脑部疾病的技术。我们的目标是提供该领域的定量文献计量分析,以告知研究人员未来可以告知其研究方向的趋势。
    方法:我们进行了文献计量分析,以使用机器学习和深度学习对脑部疾病的检测和诊断进行概述。我们的文献计量分析包括从Scopus数据库收集的1550篇关于使用机器学习和深度学习进行自动化脑部疾病检测和诊断的文章,发表于2015年至2023年5月。在Biblioshiny和VOSviewer平台的帮助下,进行了全面的文献计量分析。在研究中分析了引文分析和各种合作措施。
    结果:根据一项研究,据报道,2022年的研究最多,比前几年持续增长。引用的大多数作者都专注于在该领域有效的多类分类和创新的卷积神经网络模型。一项关键词分析显示,在几种脑部疾病类型中,老年痴呆症,自闭症,和帕金森病受到了最大的关注。就作者和研究所而言,美国,中国,和印度是最合作的国家之一。我们根据我们的发现制定了未来的研究议程,以帮助推进机器学习和深度学习在大脑疾病检测和诊断方面的研究。
    结论:总之,我们的定量文献计量分析提供了有关该领域趋势的有用见解,并指出了将机器学习和深度学习应用于脑部疾病检测和诊断的潜在方向。

    OBJECTIVE: Brain disorders are one of the major global mortality issues, and their early detection is crucial for healing. Machine learning, specifically deep learning, is a technology that is increasingly being used to detect and diagnose brain disorders. Our objective is to provide a quantitative bibliometric analysis of the field to inform researchers about trends that can inform their Research directions in the future.
    METHODS: We carried out a bibliometric analysis to create an overview of brain disorder detection and diagnosis using machine learning and deep learning. Our bibliometric analysis includes 1550 articles gathered from the Scopus database on automated brain disorder detection and diagnosis using machine learning and deep learning published from 2015 to May 2023. A thorough bibliometric análisis is carried out with the help of Biblioshiny and the VOSviewer platform. Citation analysis and various measures of collaboration are analyzed in the study.
    RESULTS: According to a study, maximum research is reported in 2022, with a consistent rise from preceding years. The majority of the authors referenced have concentrated on multiclass classification and innovative convolutional neural network models that are effective in this field. A keyword analysis revealed that among the several brain disorder types, Alzheimer\'s, autism, and Parkinson\'s disease had received the greatest attention. In terms of both authors and institutes, the USA, China, and India are among the most collaborating countries. We built a future research agenda based on our findings to help progress research on machine learning and deep learning for brain disorder detection and diagnosis.
    CONCLUSIONS: In summary, our quantitative bibliometric analysis provides useful insights about trends in the field and points them to potential directions in applying machine learning and deep learning for brain disorder detection and diagnosis.

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  • 文章类型: Journal Article
    Connectome了解人类大脑的结构和功能连接的复杂组织对于获得认知过程和障碍的见解至关重要。
    为了提高脑部疾病的预测准确性,本研究调查了与精神分裂症相关的连接不良子网络和图结构。
    通过使用提出的结构连通性-深层图神经网络(sc-DGNN)模型,并与机器学习(ML)和深度学习(DL)模型进行比较。这项工作试图集中在88个受试者的扩散磁共振成像(dMRI),三个经典ML,和五个DL模型。
    提出了结构连通性深度图神经网络(sc-DGNN)模型,以有效地预测与精神分裂症相关的连通性异常,并且与传统的ML和DL(GNN)方法相比,在准确性方面表现出卓越的性能,灵敏度,特异性,精度,F1分数,和接收机工作特性下面积(AUC)。
    使用结构连接矩阵和实验结果表明,线性判别分析(LDA)在ML模型中的准确率为72%,sc-DGNN在DL模型中以93%的准确率进行区分精神分裂症和健康患者。
    UNASSIGNED: Connectome is understanding the complex organization of the human brain\'s structural and functional connectivity is essential for gaining insights into cognitive processes and disorders.
    UNASSIGNED: To improve the prediction accuracy of brain disorder issues, the current study investigates dysconnected subnetworks and graph structures associated with schizophrenia.
    UNASSIGNED: By using the proposed structural connectivity-deep graph neural network (sc-DGNN) model and compared with machine learning (ML) and deep learning (DL) models.This work attempts to focus on eighty-eight subjects of diffusion magnetic resonance imaging (dMRI), three classical ML, and five DL models.
    UNASSIGNED: The structural connectivity-deep graph neural network (sc-DGNN) model is proposed to effectively predict dysconnectedness associated with schizophrenia and exhibits superior performance compared to traditional ML and DL (GNNs) methods in terms of accuracy, sensitivity, specificity, precision, F1-score, and Area under receiver operating characteristic (AUC).
    UNASSIGNED: The classification task on schizophrenia using structural connectivity matrices and experimental results showed that linear discriminant analysis (LDA) performed 72% accuracy rate in ML models and sc-DGNN performed at a 93% accuracy rate in DL models to distinguish between schizophrenia and healthy patients.
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  • 文章类型: Journal Article
    虚拟大脑双胞胎是个性化的,基于个人大脑数据的生成和自适应大脑模型,供科学和临床使用。在描述了虚拟大脑双胞胎的关键元素之后,我们提出了个性化全脑网络模型的标准模型。个性化是通过三种方式使用受试者的大脑成像数据完成的:(1)在受试者特定的大脑空间中组装皮层和皮层下区域;(2)直接将连通性映射到大脑模型中,可以推广到其他参数;(3)通过模型反演估计相关参数,通常使用概率机器学习。我们介绍了个性化全脑网络模型在健康老龄化和五种临床疾病中的应用:癫痫,老年痴呆症,多发性硬化症,帕金森病和精神疾病。具体来说,我们引入了相关参数的空间掩模,并根据生理和病理生理假设演示了它们的使用。最后,我们确定了关键挑战和未来方向。
    Virtual brain twins are personalized, generative and adaptive brain models based on data from an individual\'s brain for scientific and clinical use. After a description of the key elements of virtual brain twins, we present the standard model for personalized whole-brain network models. The personalization is accomplished using a subject\'s brain imaging data by three means: (1) assemble cortical and subcortical areas in the subject-specific brain space; (2) directly map connectivity into the brain models, which can be generalized to other parameters; and (3) estimate relevant parameters through model inversion, typically using probabilistic machine learning. We present the use of personalized whole-brain network models in healthy ageing and five clinical diseases: epilepsy, Alzheimer\'s disease, multiple sclerosis, Parkinson\'s disease and psychiatric disorders. Specifically, we introduce spatial masks for relevant parameters and demonstrate their use based on the physiological and pathophysiological hypotheses. Finally, we pinpoint the key challenges and future directions.
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  • 文章类型: Journal Article
    静息状态功能MRI(rs-fMRI)越来越多地用于检测由脑部疾病引起的功能连接模式的改变,从而促进脑病理学的客观量化。现有研究通常使用各种机器/深度学习方法提取功能磁共振成像特征,但所产生的成像生物标志物往往难以解释.此外,大脑作为具有许多认知/拓扑模块的模块化系统运行,其中每个模块包含与其他模块中的ROI稀疏连接的密集互连感兴趣区域(ROI)的子集。然而,目前的方法不能有效地表征大脑模块化。本文提出了一种模块化约束的动态表示学习(MDRL)框架,用于使用rs-fMRI进行可解释的脑部疾病分析。MDRL由三部分组成:(1)动态图构造,(2)面向动态特征学习的模块化约束时空图神经网络(MSGNN),(3)预测和生物标志物检测。特别是,MSGNN旨在学习功能磁共振成像的时空动态表示,受3个功能模块的约束(即,中央执行网络,显著性网络,和默认模式网络)。为了增强学习特征的辨别能力,我们鼓励MSGNN重建输入图的网络拓扑。在两个公共数据集和一个私有数据集(总共1,155名受试者)上的实验结果验证了我们的MDRL在基于fMRI的脑部疾病分析中优于几种最先进的方法。检测到的fMRI生物标志物具有良好的可解释性,可以潜在地用于改善临床诊断。
    Resting-state functional MRI (rs-fMRI) is increasingly used to detect altered functional connectivity patterns caused by brain disorders, thereby facilitating objective quantification of brain pathology. Existing studies typically extract fMRI features using various machine/deep learning methods, but the generated imaging biomarkers are often challenging to interpret. Besides, the brain operates as a modular system with many cognitive/topological modules, where each module contains subsets of densely inter-connected regions-of-interest (ROIs) that are sparsely connected to ROIs in other modules. However, current methods cannot effectively characterize brain modularity. This paper proposes a modularity-constrained dynamic representation learning (MDRL) framework for interpretable brain disorder analysis with rs-fMRI. The MDRL consists of 3 parts: (1) dynamic graph construction, (2) modularity-constrained spatiotemporal graph neural network (MSGNN) for dynamic feature learning, and (3) prediction and biomarker detection. In particular, the MSGNN is designed to learn spatiotemporal dynamic representations of fMRI, constrained by 3 functional modules (i.e., central executive network, salience network, and default mode network). To enhance discriminative ability of learned features, we encourage the MSGNN to reconstruct network topology of input graphs. Experimental results on two public and one private datasets with a total of 1,155 subjects validate that our MDRL outperforms several state-of-the-art methods in fMRI-based brain disorder analysis. The detected fMRI biomarkers have good explainability and can be potentially used to improve clinical diagnosis.
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  • 文章类型: Journal Article
    颅内顺应性(ICC)在神经监测中具有重要的潜力,作为诊断工具,有助于评估治疗结果。尽管它的概念全面,这允许考虑容量和颅内压(ICP)的变化,ICC监测尚未确立为医疗保健的标准组成部分,与ICP监测不同。这篇评论强调,第一个挑战是对国际商会价值观的评估,由于直接测量的侵入性,通过计算机模拟进行非侵入性计算的耗时方面,以及无法在估计方法中量化ICC值。应对这些挑战至关重要,和快速发展,非侵入性计算机模拟方法可以缓解ICC量化的障碍。此外,这篇综述指出了ICC临床应用的第二个挑战,这涉及到ICC的动态和时间依赖性。这是通过在测量ICC方程中的体积或ICP的变化(体积变化/ICP变化)时引入经过时间(TE)的概念来考虑的。TE的选择,无论是短还是长,直接影响ICC的临床应用中必须考虑的ICC值。在某些疾病的长期TE评估中,大脑的代偿性反应表现出非单调和可变的变化。与在短期TE评估中观察到的单指数模式形成对比。此外,在各种脑部疾病的治疗过程中,当暴露于短期和长期TE条件时,大脑的恢复行为会发生变化。该评论还强调了不同脑部疾病的ICC值的差异,这些脑部疾病具有不同的应变率和负载持续时间,进一步强调ICC临床应用的动态性。这篇综述提供的见解可能对神经重症监护专业人员很有价值,神经学,和神经外科在与脑部疾病的诊断和治疗结果评估相关的实际应用中标准化ICC监测。
    Intracranial compliance (ICC) holds significant potential in neuromonitoring, serving as a diagnostic tool and contributing to the evaluation of treatment outcomes. Despite its comprehensive concept, which allows consideration of changes in both volume and intracranial pressure (ICP), ICC monitoring has not yet established itself as a standard component of medical care, unlike ICP monitoring. This review highlighted that the first challenge is the assessment of ICC values, because of the invasive nature of direct measurement, the time-consuming aspect of non-invasive calculation through computer simulations, and the inability to quantify ICC values in estimation methods. Addressing these challenges is crucial, and the development of a rapid, non-invasive computer simulation method could alleviate obstacles in quantifying ICC. Additionally, this review indicated the second challenge in the clinical application of ICC, which involves the dynamic and time-dependent nature of ICC. This was considered by introducing the concept of time elapsed (TE) in measuring the changes in volume or ICP in the ICC equation (volume change/ICP change). The choice of TE, whether short or long, directly influences the ICC values that must be considered in the clinical application of the ICC. Compensatory responses of the brain exhibit non-monotonic and variable changes in long TE assessments for certain disorders, contrasting with the mono-exponential pattern observed in short TE assessments. Furthermore, the recovery behavior of the brain undergoes changes during the treatment process of various brain disorders when exposed to short and long TE conditions. The review also highlighted differences in ICC values across brain disorders with various strain rates and loading durations on the brain, further emphasizing the dynamic nature of ICC for clinical application. The insight provided in this review may prove valuable to professionals in neurocritical care, neurology, and neurosurgery for standardizing ICC monitoring in practical application related to the diagnosis and evaluation of treatment outcomes in brain disorders.
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  • 文章类型: Journal Article
    纳米抗体(Nbs)由于其独特的特性而在分子成像中具有重要的潜力。然而,当涉及到大脑成像时,有一些挑战需要克服。为了解决这些障碍,需要合作努力和跨学科研究。本文旨在提高认识并鼓励来自各个领域的研究人员之间的合作,以找到使用Nbs进行有效脑成像的解决方案。通过促进合作和知识共享,我们可以在克服现有局限性方面取得进展,并为将来改进分子成像技术铺平道路。
    Nanobodies (Nbs) hold significant potential in molecular imaging due to their unique characteristics. However, there are challenges to overcome when it comes to brain imaging. To address these obstacles, collaborative efforts and interdisciplinary research are needed. This article aims to raise awareness and encourage collaboration among researchers from various fields to find solutions for effective brain imaging using Nbs. By fostering cooperation and knowledge sharing, we can make progress in overcoming the existing limitations and pave the way for improved molecular imaging techniques in the future.
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  • 文章类型: Journal Article
    目的:这项研究旨在了解世界各地的癫痫意识日,并了解与癫痫和其他神经系统疾病部门间全球行动计划(IGAP)(2022-2031)相关的日在抗击癫痫中的性质和作用。
    方法:我们对期刊文章进行了综述。我们搜索的数据库是ProQuestCentral,EBSCOhost学术搜索完成,EBSCOMedline,PubMedCentral,Wiley在线,开放存取期刊目录(DOAJ),非洲在线期刊(AJOL)谷歌学者。我们的搜索仅限于2000年1月至2023年1月之间发表的与我们的主题相关的论文。我们搜索了癫痫意识日,week,或月\'。从数据库中,13篇文章符合我们的纳入标准。我们通过在Google上搜索有关癫痫意识日的文章来增强我们的结果,week,或月。我们还直接在癫痫组织的网站上搜索。
    结果:我们发现癫痫意识天数属于以下类别:全球意识天数(n=2),意识月(n=4),区域意识周(n=5),和区域意识天数(n=1)。我们对国家意识日(n=7)的搜索并不全面,这可能是未来研究的领域。文献表明,癫痫意识天数可以发挥作用(1)减少知识和治疗差距,(2)增加参与,(3)解锁资源,(4)需要改变政策和增加网络。这些专门的日子在IGAP中的主要作用是加快对政策变化和改进干预措施的认识和宣传。
    结论:癫痫意识日已经将利益相关者聚集在一起,IGAP计划可以利用这一成就,以具有成本效益的方式加快意识,上下文和协作方式。这可以通过采用与IGAP目标更直接相关的主题来实现。另一个重要战略是激励没有全国癫痫日的国家或没有区域意识日的地区,考虑在资源范围内做一个。
    OBJECTIVE: This research sought to find out the epilepsy awareness days around the world and understand the nature and role of the days in the fight against epilepsy in relation to the Intersectoral Global Action Plan (IGAP) on epilepsy and other neurological disorders (2022-2031).
    METHODS: We conducted a review of journal articles. The databases that we searched were ProQuest Central, EBSCOhost Academic Search Complete, EBSCO Medline, PubMed Central, Wiley Online, Directory of Open Access Journals (DOAJ), African Journals Online (AJOL), and Google Scholar. We limited our search to papers of relevance to our subject published between January 2000 and January 2023. We searched \'epilepsy awareness day, week, or month\'. From the databases, 13 articles met our inclusion criteria. We augmented our results with a search on Google of articles about epilepsy awareness day, week, or month. We also searched directly on the websites of epilepsy organizations.
    RESULTS: We found that epilepsy awareness days fall into these categories: global awareness days (n = 2), awareness months (n = 4), regional awareness weeks (n = 5), and regional awareness days (n = 1). Our search for national awareness days (n = 7) was not comprehensive, and this could be an area for future research. The literature shows that epilepsy awareness days could play a role in (1) reducing knowledge and treatment gaps, (2) increasing participation, (3) unlocking resources, and (4) necessitating policy change and increasing networking. The major role of these dedicated days in the IGAP is to accelerate awareness and advocacy for policy change and improved interventions.
    CONCLUSIONS: Epilepsy awareness days are bringing stakeholders together already, and IGAP initiatives could tap into this achievement to accelerate awareness in a cost effective, contextual and collaborative manner. This could be achieved by adopting themes that relate more directly to the IGAP goals. Another important strategy is to motivate countries that do not have national epilepsy days or regions that do not have a regional awareness days, to consider doing one within the confines of resources.
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  • 文章类型: Journal Article
    目的:苯巴比妥(PB)q12h是复发性癫痫发作猫最常见的治疗建议。医疗猫可能是具有挑战性的,并导致猫和主人的生活质量下降。这项回顾性研究的目的是评估口服PBq24h对推定特发性癫痫猫的治疗。
    方法:九只猫患有特发性癫痫,接受口服PBq24h,纳入一项回顾性描述性研究。
    结果:88%(8/9)的猫实现了癫痫缓解,12%(1/9)的猫实现了良好的癫痫控制,口服PB的平均剂量为2.6mg/kgq24h(范围为1.4-3.8mg/kg)。在平均3.5年(范围1.1-8.0年)的随访期内,没有猫需要在任何时候增加其PB频率。在最后一次记录的随访中,没有猫显示副作用或依从性问题。
    结论:每天一次给予PB治疗猫科动物癫痫是安全的,并且对于本研究中的9只猫来说,癫痫发作得到了令人满意的控制。这项研究的结果证明了在更大的前瞻性研究中进一步探索这一主题。
    Phenobarbital (PB) q12h is the most common treatment recommendation for cats with recurrent epileptic seizures. Medicating cats may be challenging and result in decreased quality of life for both cat and owner. The aim of this retrospective study was to evaluate treatment with oral PB q24h in cats with presumptive idiopathic epilepsy.
    Nine cats with presumptive idiopathic epilepsy, receiving oral PB q24h, were included in a retrospective descriptive study.
    Seizure remission was achieved in 88% (8/9) of the cats and good seizure control in 12% (1/9) of the cats, treated with a mean dose of oral PB of 2.6 mg/kg q24h (range 1.4-3.8 mg/kg). No cats required an increase of their PB frequency at any time during a mean follow-up period of 3.5 years (range 1.1-8.0 years). No cats displayed side effects or issues with compliance at the last recorded follow-up.
    Once-a-day administration of PB for feline epilepsy was safe and resulted in satisfactory seizure control for the nine cats included in this study. The results of this study justify exploring this topic further in larger prospective studies.
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