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Epidemiological study of a von Hippel-Lindau family in northwest China
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《医学前沿(英文)》 2013年 第7卷 第3期 页码 378-385 doi: 10.1007/s11684-013-0276-0
von Hippel-Lindau (VHL) disease is a rare, inherited neoplastic disease characterized by hemangioblastomas (HBL) of the central nervous system (CNS), retinal angiomas, renal cell carcinomas (RCC), pancreatic endocrine tumors (PETs), pheochromocytomas, paragangliomas, and visceral cysts. We encountered a large VHL family in northwest China and conducted a systematic screening of the family members based on their epidemiological and clinical characteristics. A self-designed questionnaire was used to collect the general sociodemographic and health information of the family members. For the preliminary family screening, physical examination and abdomen B ultrasonography were performed. The suspected patients were subjected to cranial computerized tomography and fundus examination. The clinical data of the patients with confirmed VHL disease were collected from hospital records. A total of 63 lineal descendants in six generations were observed in the family (generations O, A, B, C, D, E), including 9 dead suspected cases (6 males, 3 females) and 10 living cases (2 males, 8 females). Among the 10 living cases, 4, 2, 1, 3, 4, 8, and 2 manifested HBLs of the CNS, PETs, RCC, pancreatic cysts, renal cysts, pheochromocytomas (4 hemi and 4 bilateral), and paragangliomas, respectively. Data showed that the morbidity of VHL disease in generation C was lower than that in generation B, but the age of onset was younger. This study is the first to report VHL disease in northwest China and VHL-associated PET cases in Chinese. Therefore, follow-up checkups of the family should be focused on younger generations. Proper family screening protocols should be followed for the treatment of patients with VHL disease.
关键词: von Hippel-Lindau disease epidemiology family screening pancreatic endocrine tumor
Andrew LOCKLEY, Ted von HIPPEL
《工程管理前沿(英文)》 2021年 第8卷 第3期 页码 456-464 doi: 10.1007/s42524-020-0102-8
关键词: carbon dioxide removal Liquid Air Energy Storage Compressed Air Energy Storage geoengineering
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
关键词: molecular epidemiology norovirus disease burden genotype China
et’s disease in a Chinese population
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《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
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.
Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype
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《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
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
Transient analysis of thermoelastic contact problem of disk brakes
Ali BELHOCINE, Mostefa BOUCHETARA
《机械工程前沿(英文)》 2013年 第8卷 第2期 页码 150-159 doi: 10.1007/s11465-013-0266-6
The main purpose of this study is to analyze the thermomechanical behavior of the dry contact between the brake disk and pads during the braking phase. The simulation strategy is based on computer code ANSYS11. The modeling of transient temperature in the disk is actually used to identify the factor of geometric design of the disk to install the ventilation system in vehicles. The thermal-structural analysis is then used with coupling to determine the deformation established and the Von Mises stresses in the disk, the contact pressure distribution in pads. The results are satisfactory compared to those found in the literature.
关键词: brake disks heat flux heat-transfer coefficient Von Mises stress contact pressure
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
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
关键词: chronic disease prevention and control strategy and system construction
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
关键词: astrocytes depression Alzheimer’s disease roles mechanisms
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
关键词: MRD solid tumor CTC ctDNA
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
关键词: cardiovascular disease multislice computed tomography three-dimensional reconstruction diagnosis visualization
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
关键词: ferroptosis human disease iron metabolism lipid peroxidation antioxidation
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《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
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
Extrapolation reconstruction of wind pressure fields on the claddings of high-rise buildings
Yehua SUN, Guquan SONG, Hui LV
《结构与土木工程前沿(英文)》 2019年 第13卷 第3期 页码 653-666 doi: 10.1007/s11709-018-0503-5
关键词: extrapolation reconstruction proper orthogonal decomposition Kriging method von Kármán function Hurst exponent rescaled range analysis
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
关键词: coronavirus disease 2019 epidemiology pathology radiology clinical characteristics treatment
标题 作者 时间 类型 操作
The carbon dioxide removal potential of Liquid Air Energy Storage: A high-level technical and economic appraisal
Andrew LOCKLEY, Ted von HIPPEL
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
Transient analysis of thermoelastic contact problem of disk brakes
Ali BELHOCINE, Mostefa BOUCHETARA
期刊论文
Exploration of Strategies for Chronic Disease Prevention and Control and Relevant System Development
Long-de Wang
期刊论文
Multislice computed tomography angiography in the diagnosis of cardiovascular disease: 3D visualizations
Zhonghua Sun
期刊论文
PulseNet China, a model for future laboratory-based bacterial infectious disease surveillance in China
null
期刊论文
Extrapolation reconstruction of wind pressure fields on the claddings of high-rise buildings
Yehua SUN, Guquan SONG, Hui LV
期刊论文