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Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

《医学前沿（英文）》 2014年 第8卷 第1期   页码 42-57 doi: 10.1007/s11684-014-0303-9

摘要：

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.

关键词： genetics     whole-exome sequencing     Mendelian disease     disease gene    

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Type 2 diabetes is causally associated with depression: a Mendelian randomization analysis

Liping Xuan, Zhiyun Zhao, Xu Jia, Yanan Hou, Tiange Wang, Mian Li, Jieli Lu, Yu Xu, Yuhong Chen, Lu Qi, Weiqing Wang, Yufang Bi, Min Xu

《医学前沿（英文）》 2018年 第12卷 第6期   页码 678-687 doi: 10.1007/s11684-018-0671-7

摘要：

Type 2 diabetes (T2D) has been associated with a high prevalence of depression. We aimed to determine the causal relation by performing a Mendelian randomization (MR) study using 34 T2D risk genetic variants validated in East Asians as the instrumental variable (IV). An MR analysis was performed involving 11 506 participants from a large longitudinal study. The T2D genetic risk score (GRS) was built using the 34 typical T2D common variants. We used T2D_GRS as the IV estimator and performed inverse-variance weighted (IVW) and Egger MR analysis. The T2D_GRS was found to be associated with depression with an OR of 1.21 (95% CI: 1.07–1.37) after adjustments for age, sex, body mass index, current smoking and drinking, physical activity, education, and marital status. Using T2D_GRS as the IV, we similarly found a causal relationship between genetically determined T2D and depression (OR: 1.84, 95% CI: 1.25–2.70). Though we found no association between the combined effect of the genetic IVs for T2D and depression with Egger MR (OR: 0.95, 95% CI: 0.42–2.14), we found an association for T2D and depression with IVW (OR: 1.75, 95% CI: 1.31–2.46) after excluding pleiotropic SNPs. Overall, the MR analyses provide evidence inferring a potential causal relationship between T2D and depression.

关键词： causal modeling     depression     Mendelian randomization     type 2 diabetes    

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et’s disease in a Chinese population

null

《医学前沿（英文）》 2012年 第6卷 第4期   页码 354-359 doi: 10.1007/s11684-012-0234-2

摘要：

Beh?et’s disease is defined as a multisystemic inflammatory disease. Although the precise pathogenesis and etiology is still a mystery, accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Beh?et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease with multiple immune response genes and has identified multiple Beh?et’s disease-related immunoregulatory pathways in the Chinese Han population. A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1/CCR3, STAT3, OPN, IL17, JAK2, MCP-1, CTLA4, PD-1, PD-L1, PD-L2, TGRBR3, CCR6, PTPN22, FCRL3, IRF5, SUMO4 and UBAC2. Significant associations were found between Beh?et’s disease and STAT4, IL23R, CD40, CCR1/CCR3, STAT3, MCP-1, TGFBR3, FCRL3, SUMO4, UBAC2. These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways. These findings are helpful in elucidating the pathogenesis of Beh?et’s disease and hopefully will allow the development of novel treatment regimes.

关键词： Beh?et’s disease     SNPs     immune gene     genetic study    

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Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

null

《医学前沿（英文）》 2013年 第7卷 第4期   页码 425-432 doi: 10.1007/s11684-013-0295-x

摘要：

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation. Given that multiple systems other than the lung can be impaired in COPD patients, the traditional FEV1/FVC ratio shows many limitations in COPD diagnosis and assessment. Certain heterogeneities are found in terms of clinical manifestations, physiology, imaging findings, and inflammatory reactions in COPD patients; thus, phenotyping can provide effective information for the prognosis and treatment. However, phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD, and the role of phenotypes in COPD prevention and early diagnosis remains unclear. This shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain genes. This review briefly describes the heterogeneity of COPD, with focus on recent advances in the correlations between genotypes and phenotypes. The potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated.

关键词： chronic obstructive pulmonary disease     heterogeneity     phenotype     genotype     prediction    

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Acupuncture for the management of dry eye disease

《医学前沿（英文）》 2022年 第16卷 第6期   页码 975-983 doi: 10.1007/s11684-022-0923-4

摘要： The effectiveness of using acupuncture for dry eye disease (DED) is controversial. Thus, this systematic review investigated the effectiveness and feasibility of using acupuncture for DED in accordance with the 2020 PRISMA statement. The outcomes of interests were (1) to evaluate the efficacy of acupuncture in improving the ocular surface disease index (OSDI), Schirmer I test score, and tear breakup time from baseline to the last follow-up; (2) to determine possible complications of using acupuncture; and (3) to investigate the superiority of acupuncture over other commonly used treatments for DED. Data from 394 patients were collected. Results showed that acupuncture significantly prolonged the tear breakup time (P < 0.0001), significantly increased the Schirmer I test score ( P < 0.0001), and significantly reduced the OSDI ( P < 0.0001) from baseline to the last follow-up. Compared with the control group, the acupuncture group had significantly greater Schirmer I test score ( P < 0.0001), significantly longer tear breakup time ( P = 0.0004), and significantly lower OSDI (P = 0.002). These results suggest that acupuncture is effective and feasible in improving symptoms and signs of DED. No severe adverse effects of acupuncture were observed.

关键词： dry eye disease     xerophthalmus     acupuncture    

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Exploration of Strategies for Chronic Disease Prevention and Control and Relevant System Development

Long-de Wang

《工程管理前沿（英文）》 2015年 第2卷 第1期   页码 2-12 doi: 10.15302/J-FEM-2015002

摘要： Chronic non-communicable diseases have become a major threat to humanity. International studies have shown that of 57 million deaths worldwide in 2008, 36 million (63%) were caused by chronic non-communicable diseases; of these, 29 million (80%) occurred in low and middle income countries. The WHO predicts that if the current trend continues, the annual number of deaths due to chronic non-communicable diseases will increase to 55 million by 2030. Due to acceleration of industrialization and urbanization, along with population aging and rapid changes of people’s lifestyle, the morbidity and mortality from chronic diseases are rapidly increasing in China. Therefore, dealing with the prevalence of chronic non-communicable diseases has become one of the current major health issues for China to address. On the basis of summarizing the status of major chronic diseases in China, analyzing the key issues and key factors in chronic disease prevention and control, and reviewing and summarizing the experience from the previous projects, this paper proposes the following recommendations as strategies for chronic disease prevention and control and development of relevant system, which China should adopt. All relevant government departments should formulate corresponding policies; establish a coordinated and efficient work system with rational structure and clear division of tasks and responsibilities within the system. Implementation and development of “integrated medicine” in system is necessary. Work norms and requirements will then improve the performance and efficiency in chronic disease prevention and control in China.

关键词： chronic disease prevention and control     strategy and system construction    

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Astrocytes in depression and Alzheimer’s disease

《医学前沿（英文）》 2021年 第15卷 第6期   页码 829-841 doi: 10.1007/s11684-021-0875-0

摘要： Astrocytes are an abundant subgroup of cells in the central nervous system (CNS) that play a critical role in controlling neuronal circuits involved in emotion, learning, and memory. In clinical cases, multiple chronic brain diseases may cause psychosocial and cognitive impairment, such as depression and Alzheimer’s disease (AD). For years, complex pathological conditions driven by depression and AD have been widely perceived to contribute to a high risk of disability, resulting in gradual loss of self-care ability, lower life qualities, and vast burden on human society. Interestingly, correlational research on depression and AD has shown that depression might be a prodrome of progressive degenerative neurological disease. As a kind of multifunctional glial cell in the CNS, astrocytes maintain physiological function via supporting neuronal cells, modulating pathologic niche, and regulating energy metabolism. Mounting evidence has shown that astrocytic dysfunction is involved in the progression of depression and AD. We herein review the current findings on the roles and mechanisms of astrocytes in the development of depression and AD, with an implication of potential therapeutic avenue for these diseases by targeting astrocytes.

关键词： astrocytes     depression     Alzheimer’s disease     roles     mechanisms    

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Minimal residual disease in solid tumors: an overview

《医学前沿（英文）》 2023年 第17卷 第4期   页码 649-674 doi: 10.1007/s11684-023-1018-6

摘要： Minimal residual disease (MRD) is termed as the small numbers of remnant tumor cells in a subset of patients with tumors. Liquid biopsy is increasingly used for the detection of MRD, illustrating the potential of MRD detection to provide more accurate management for cancer patients. As new techniques and algorithms have enhanced the performance of MRD detection, the approach is becoming more widely and routinely used to predict the prognosis and monitor the relapse of cancer patients. In fact, MRD detection has been shown to achieve better performance than imaging methods. On this basis, rigorous investigation of MRD detection as an integral method for guiding clinical treatment has made important advances. This review summarizes the development of MRD biomarkers, techniques, and strategies for the detection of cancer, and emphasizes the application of MRD detection in solid tumors, particularly for the guidance of clinical treatment.

关键词： MRD     solid tumor     CTC     ctDNA    

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免疫球蛋白G N-糖基化与代谢特征之间的双向因果关联——一项孟德尔随机化研究 Article

孟晓妮, 曹维杰, 刘迪, Isinta Elijah Maranga, 邢薇佳, 侯海峰, 徐希柱, 宋曼殳, 王友信

《工程（英文）》 2023年 第26卷 第7期   页码 74-88 doi: 10.1016/j.eng.2022.11.004

摘要： 本研究使用孟德尔随机化（Mendelian randomization, MR）研究方法整合全基因组关联研究（genome-wide association studies, GWAS）和数量性状基因座

关键词： 孟德尔随机化研究     免疫球蛋白 G     N-糖基化     代谢特征     数量性状位点     双向因果关联    

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Multislice computed tomography angiography in the diagnosis of cardiovascular disease: 3D visualizations

Zhonghua Sun

《医学前沿（英文）》 2011年 第5卷 第3期   页码 254-270 doi: 10.1007/s11684-011-0153-7

摘要： Multislice computed tomography (CT) has been widely used in clinical practice for the diagnosis of cardiovascular disease due to its reduced invasiveness and high spatial and temporal resolution. As a reliable alternative to conventional angiography, multislice CT angiography has been recognized as the method of choice for detecting and diagnosing head and neck vascular disease, abdominal aortic aneurysm, aortic dissection, and pulmonary embolism. In patients with suspected coronary artery disease, although invasive coronary angiography still remains as the gold standard technique, multislice CT angiography demonstrates high diagnostic accuracy; in selected patients, it is considered as the first-line technique. The imaging diagnosis of cardiovascular disease is based on a combination of two-dimensional (2D) and three-dimensional (3D) visualization tools to enhance the diagnostic value. This is facilitated by reconstructed visualizations which provide additional information about the extent of the disease, an accurate assessment of the spatial relationship between normal structures and pathological changes, and pre-operative planning and post-procedure follow-up. The aim of the present article is to present an overview of the diagnostic performance of various 2D and 3D CT visualizations in cardiovascular disease, including multiplanar reformation, maximum intensity projection, volume rendering, and virtual intravascular endoscopy. The recognition of the potential value of these visualizations will assist clinicians in efficiently using the multislice CT imaging modality for the diagnostic management of patients with cardiovascular disease.

关键词： cardiovascular disease     multislice computed tomography     three-dimensional reconstruction     diagnosis     visualization    

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Zooming in and out of ferroptosis in human disease

《医学前沿（英文）》 2023年 第17卷 第2期   页码 173-206 doi: 10.1007/s11684-023-0992-z

摘要： Ferroptosis is defined as an iron-dependent regulated form of cell death driven by lipid peroxidation. In the past decade, it has been implicated in the pathogenesis of various diseases that together involve almost every organ of the body, including various cancers, neurodegenerative diseases, cardiovascular diseases, lung diseases, liver diseases, kidney diseases, endocrine metabolic diseases, iron-overload-related diseases, orthopedic diseases and autoimmune diseases. Understanding the underlying molecular mechanisms of ferroptosis and its regulatory pathways could provide additional strategies for the management of these disease conditions. Indeed, there are an expanding number of studies suggesting that ferroptosis serves as a bona-fide target for the prevention and treatment of these diseases in relevant pre-clinical models. In this review, we summarize the progress in the research into ferroptosis and its regulatory mechanisms in human disease, while providing evidence in support of ferroptosis as a target for the treatment of these diseases. We also discuss our perspectives on the future directions in the targeting of ferroptosis in human disease.

关键词： ferroptosis     human disease     iron metabolism     lipid peroxidation     antioxidation    

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PulseNet China, a model for future laboratory-based bacterial infectious disease surveillance in China

null

《医学前沿（英文）》 2012年 第6卷 第4期   页码 366-375 doi: 10.1007/s11684-012-0214-6

摘要：

Surveillance is critical for the prevention and control of infectious disease. China’s real-time web-based infectious disease reporting system is a distinguished achievement. However, many aspects of the current China Infectious Disease Surveillance System do not yet meet the demand for timely outbreak detection and identification of emerging infectious disease. PulseNet, the national molecular typing network for foodborne disease surveillance was first established by the Centers for Disease Control and Prevention of the United States in 1995 and has proven valuable in the early detection of outbreaks and tracing the pathogen source. Since 2001, the China CDC laboratory for bacterial pathogen analysis has been a member of the PulseNet International family; and has been adapting the idea and methodology of PulseNet to develop a model for a future national laboratory-based surveillance system for all bacterial infectious disease. We summarized the development progress for the PulseNet China system and discussed it as a model for the future of China’s national laboratory-based surveillance system.

关键词： infectious disease     laboratory-based infectious disease surveillance     pulse field gel electrophoresis     multilocus sequencing typing     PulseNet China    

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The epidemiology of norovirus gastroenteritis in China: disease burden and distribution of genotypes

Honglu Zhou, Songmei Wang, Lorenz von Seidlein, Xuanyi Wang

《医学前沿（英文）》 2020年 第14卷 第1期   页码 1-7 doi: 10.1007/s11684-019-0733-5

摘要： With the improvements of sanitation and nationwide safe water supply the occurrence of bacterial diarrhea declined remarkably, while viruses became the leading causes of acute gastroenteritis (AGE). Of these viruses, noroviruses (NoVs) are responsible for a considerable burden of gastroenteritis, especially in children<2 years and elderly≥65 years. NoVs circulating in the Chinese population are antigenically highly diverse with the genotype GII.4 being the dominant strain followed by GII.3. Given the widespread contamination in environmental sources, and highly infectious nature of NoVs, vaccination would be the desirable strategy for the control of NoV infections. However, a better understanding of acquired immunity after infection, and a reliable immunological surrogate marker are urgently needed, since two vaccine candidates based on virus-like particles (VLPs) are currently moving into clinical evaluations in China.

关键词： molecular epidemiology     norovirus     disease burden     genotype     China    

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Coronavirus disease 2019 (COVID-19): a clinical update

Min Zhou, Xinxin Zhang, Jieming Qu

《医学前沿（英文）》 2020年 第14卷 第2期   页码 126-135 doi: 10.1007/s11684-020-0767-8

摘要： Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has posed a significant threat to global health. It caused a total of 80 868 confirmed cases and 3101 deaths in Chinese mainland until March 8, 2020. This novel virus spread mainly through respiratory droplets and close contact. As disease progressed, a series of complications tend to develop, especially in critically ill patients. Pathological findings showed representative features of acute respiratory distress syndrome and involvement of multiple organs. Apart from supportive care, no specific treatment has been established for COVID-19. The efficacy of some promising antivirals, convalescent plasma transfusion, and tocilizumab needs to be investigated by ongoing clinical trials.

关键词： coronavirus disease 2019     epidemiology     pathology     radiology     clinical characteristics     treatment    

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Association of cardiac disease with the risk of post-lung transplantation mortality in Chinese recipients

《医学前沿（英文）》 2023年 第17卷 第1期   页码 58-67 doi: 10.1007/s11684-022-0937-y

摘要： The current organ allocation rules prioritize elderly and urgent patients on the lung transplantation (LT) waiting list. A steady increase in the threshold at which age is taken into consideration for LT has been observed. This retrospective cohort study recruited 166 lung transplant recipients aged ≥ 65 years between January 2016 and October 2020 in the largest LT center in China. In the cohort, subgroups of patients aged 65–70 years (111 recipients, group 65–70) and ≥ 70 years (55 recipients, group ≥ 70) were included. Group D restrictive lung disease was the main indication of a lung transplant in recipients over 65 years. A significantly higher percentage of coronary artery stenosis was observed in the group ≥ 70 (30.9% vs. 14.4% in group 65–70, P = 0.014). ECMO bridging to LT was performed in 5.4% (group 65–70) and 7.3% (group ≥ 70) of patients. Kaplan–Meier estimates showed that recipients with cardiac abnormalities had a significantly increased risk of mortality. After adjusting for potential confounders, cardiac abnormality was shown to be independently associated with the increased risk of post-LT mortality (HR 6.37, P = 0.0060). Our result showed that LT can be performed in candidates with an advanced age and can provide life-extending benefits.

关键词： cardiac disease     mortality     aged population     lung transplantation    

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标题 作者 时间 类型 操作

Exome sequencing greatly expedites the progressive research of Mendelian diseases

null

期刊论文

Type 2 diabetes is causally associated with depression: a Mendelian randomization analysis

Liping Xuan, Zhiyun Zhao, Xu Jia, Yanan Hou, Tiange Wang, Mian Li, Jieli Lu, Yu Xu, Yuhong Chen, Lu Qi, Weiqing Wang, Yufang Bi, Min Xu

期刊论文

et’s disease in a Chinese population

null

期刊论文

Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

null

期刊论文

Acupuncture for the management of dry eye disease

期刊论文

Exploration of Strategies for Chronic Disease Prevention and Control and Relevant System Development

Long-de Wang

期刊论文

Astrocytes in depression and Alzheimer’s disease

期刊论文

Minimal residual disease in solid tumors: an overview

期刊论文

免疫球蛋白G N-糖基化与代谢特征之间的双向因果关联——一项孟德尔随机化研究

孟晓妮, 曹维杰, 刘迪, Isinta Elijah Maranga, 邢薇佳, 侯海峰, 徐希柱, 宋曼殳, 王友信

期刊论文

Multislice computed tomography angiography in the diagnosis of cardiovascular disease: 3D visualizations

Zhonghua Sun

期刊论文

Zooming in and out of ferroptosis in human disease

期刊论文

PulseNet China, a model for future laboratory-based bacterial infectious disease surveillance in China

null

期刊论文

The epidemiology of norovirus gastroenteritis in China: disease burden and distribution of genotypes

Honglu Zhou, Songmei Wang, Lorenz von Seidlein, Xuanyi Wang

期刊论文

Coronavirus disease 2019 (COVID-19): a clinical update

Min Zhou, Xinxin Zhang, Jieming Qu

期刊论文

Association of cardiac disease with the risk of post-lung transplantation mortality in Chinese recipients

期刊论文