资源类型

期刊论文 5

年份

2023 2

2021 1

2019 2

关键词

2型糖尿病 1

疾病亚型 1

相关性网络 1

血浆代谢物 1

超微弱发光 1

展开 ︾

检索范围：

排序： 展示方式：

Temporal and spatial stability of the EM/PM molecular subtypes in adult diffuse glioma

《医学前沿（英文）》 2023年 第17卷 第2期   页码 240-262 doi: 10.1007/s11684-022-0936-z

摘要： Detailed characterizations of genomic alterations have not identified subtype-specific vulnerabilities in adult gliomas. Mapping gliomas into developmental programs may uncover new vulnerabilities that are not strictly related to genomic alterations. After identifying conserved gene modules co-expressed with EGFR or PDGFRA (EM or PM), we recently proposed an EM/PM classification scheme for adult gliomas in a histological subtype- and grade-independent manner. By using cohorts of bulk samples, paired primary and recurrent samples, multi-region samples from the same glioma, single-cell RNA-seq samples, and clinical samples, we here demonstrate the temporal and spatial stability of the EM and PM subtypes. The EM and PM subtypes, which progress in a subtype-specific mode, are robustly maintained in paired longitudinal samples. Elevated activities of cell proliferation, genomic instability and microenvironment, rather than subtype switching, mark recurrent gliomas. Within individual gliomas, the EM/PM subtype was preserved across regions and single cells. Malignant cells in the EM and PM gliomas were correlated to neural stem cell and oligodendrocyte progenitor cell compartment, respectively. Thus, while genetic makeup may change during progression and/or within different tumor areas, adult gliomas evolve within a neurodevelopmental framework of the EM and PM molecular subtypes. The dysregulated developmental pathways embedded in these molecular subtypes may contain subtype-specific vulnerabilities.

关键词： glioma progression     molecular classification     EM/PM subtyping     intratumor heterogeneity    

HTML PDF 收藏

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

《医学前沿（英文）》 2023年 第17卷 第4期   页码 768-780 doi: 10.1007/s11684-023-0982-1

摘要： Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

关键词： machine learning methods     hypertrophic cardiomyopathy     genetic risk    

HTML PDF 收藏

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia

Jianfeng Li, Yuting Dai, Liang Wu, Ming Zhang, Wen Ouyang, Jinyan Huang, Saijuan Chen

《医学前沿（英文）》 2021年 第15卷 第3期   页码 347-371 doi: 10.1007/s11684-020-0821-6

摘要： B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by genetic alterations with high heterogeneity. Precise subtypes with distinct genomic and/or gene expression patterns have been recently revealed using high-throughput sequencing technology. Most of these profiles are associated with recurrent non-overlapping rearrangements or hotspot point mutations that are analogous to the established subtypes, such as rearrangements, rearrangements, rearrangements, rearrangements, / and/or rearrangements, like gene expression, PAX5alt (diverse alterations, including rearrangements, intragenic amplifications, or mutations), and hotspot mutations PAX5 (p.Pro80Arg) with biallelic alterations, IKZF1 (p.Asn159Tyr), and ZEB2 (p.His1038Arg). These molecular subtypes could be classified by gene expression patterns with RNA-seq technology. Refined molecular classification greatly improved the treatment strategy. Multiagent therapy regimens, including target inhibitors (e.g., imatinib), immunomodulators, monoclonal antibodies, and chimeric antigen receptor T-cell (CAR-T) therapy, are transforming the clinical practice from chemotherapy drugs to personalized medicine in the field of risk-directed disease management. We provide an update on our knowledge of emerging molecular subtypes and therapeutic targets in BCP-ALL.

关键词： BCP-ALL     subtypes     translocation     aneuploidy     sequence mutations    

HTML PDF 收藏

Comparative analysis of membranous and other nephropathy subtypes and establishment of a diagnostic model

Hanyu Zhu, Bo Fu, Yong Wang, Jing Gao, Qiuxia Han, Wenjia Geng, Xiaoli Yang, Guangyan Cai, Xiangmei Chen, Dong Zhang

《医学前沿（英文）》 2019年 第13卷 第5期   页码 618-625 doi: 10.1007/s11684-018-0620-5

摘要： This study aimed to compare clinical features between membranous nephropathy (MN) and nonmembranous nephropathy (non-MN), to explore the clinically differential diagnosis of these two types, and to establish a diagnostic model of MN. After renal biopsy was obtained, 798 patients were divided into two groups based on their examination results: primary MN group ( = 248) and non-MN group ( = 550). Their data were statistically analyzed. Logistic regression analysis indicated that anti-PLA2R antibodies, IgG, and Cr were independently correlated with MN, and these three parameters were then used to establish the MN diagnostic model. A receiver operating characteristic (ROC) curve confirmed that our diagnostic model could distinguish between patients with and without MN, and their corresponding sensitivity, specificity, and AUC were 79.9%, 89.4%, and 0.917, respectively. The cutoff value for this combination in MN diagnosis was 0.34. The established diagnostic model that combined multiple factors shows a potential for broad clinical applications in differentiating primary MN from other kidney diseases and provides reliable evidence supporting the feasibility of noninvasive diagnosis of kidney diseases.

关键词： multiparameter analysis     diagnosis     model     membranous nephropathy    

HTML PDF 收藏

血浆代谢组学结合超微弱发光表征早期2型糖尿病的中医证型 Article

何敏, 孙濛濛, Slavik Koval, Roeland Van Wijk, Thomas Hankemeier, Jan Van der Greef, Eduard P.A. Van Wijk, 王梅

《工程（英文）》 2019年 第5卷 第5期   页码 916-923 doi: 10.1016/j.eng.2019.03.011

摘要：

2型糖尿病（T2DM）的患病率在全球范围内呈迅速上升趋势。因通用干预措施收效甚微，所以疾病研究的重点已经转向个性化策略，特别是疾病的早期阶段的个性化策略。中医基于系统观建立并结合了个性化策略，提高了我们对个性化诊断的认识。从系统生物学的角度，例如将代谢组学与其他系统性诊断方法（如超微弱发光）相结合，可提高对个性化诊断的理解，同时为此类个性化诊疗策略提供生化相关物质基础。在本研究中，我们研究了44名处于2型糖尿病前期的受试者的血浆代谢组学，探讨了基于以下中医亚型进行疾病早期分型的可行性：气阴两虚、气阴两虚挟痰湿、气阴两虚挟血瘀。此外，通过血浆代谢组学和超微弱发光在中医亚分型方面的关系，获得体内生化参数与体外表征参数的关联性信息，从而尝试对疾病亚型分类及判断有更深一步的阐释。结果表明，血浆代谢物的主成分分析揭示了从中医角度划分的2型糖尿病前期不同亚型之间的差异性。对于3种2型糖尿病前期亚型，相对含量较高的脂质（如胆固醇酯和甘油三酯）是鉴别其中之二的重要元素，并且可能与较高的心血管疾病风险相关。血浆代谢组学数据表明，血脂谱是超微弱发光在2型糖尿病亚型分型中收集的重要组成部分。结果表明，2型糖尿病前期的不同中医亚型之间存在代谢差异，可通过血浆代谢物分析来区分这些亚型，血浆代谢组学为系统性超微弱发光体表测量提供了生化参数相关依据。

关键词： 2型糖尿病     血浆代谢物     疾病亚型     超微弱发光     相关性网络    

HTML PDF 收藏

标题 作者 时间 类型 操作

Temporal and spatial stability of the EM/PM molecular subtypes in adult diffuse glioma

期刊论文

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

期刊论文

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia

Jianfeng Li, Yuting Dai, Liang Wu, Ming Zhang, Wen Ouyang, Jinyan Huang, Saijuan Chen

期刊论文

Comparative analysis of membranous and other nephropathy subtypes and establishment of a diagnostic model

Hanyu Zhu, Bo Fu, Yong Wang, Jing Gao, Qiuxia Han, Wenjia Geng, Xiaoli Yang, Guangyan Cai, Xiangmei Chen, Dong Zhang

期刊论文

血浆代谢组学结合超微弱发光表征早期2型糖尿病的中医证型

何敏, 孙濛濛, Slavik Koval, Roeland Van Wijk, Thomas Hankemeier, Jan Van der Greef, Eduard P.A. Van Wijk, 王梅

期刊论文