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Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

《医学前沿（英文）》 2008年 第2卷 第1期   页码 105-107 doi: 10.1007/s11684-008-0019-9

摘要： To study the genetic features (characteristics) of haptoglobin gene, four different age groups of Fujian Han people were investigated. The phenotypes of the haptoglobin of four different groups were analyzed by using polyacrylamide gel electrophoresis. The frequency of in the population of Fujian Han nationality accounted for 0.340, among which children, youths, middle aged and elder groups were 0.307, 0.338, 0.363 and 0.383, respectively. The Hp phenotype frequency was 0.026 in which the four age groups accounted for 0.032, 0.046, 0.014 and 0.014, respectively. The frequency of gene is rising with increasing age. The frequency of Hp phenotype is highest in the middle aged group and then tends to drop with increasing age.

关键词： different     haptoglobin     phenotype frequency     electrophoresis     middle    

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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

《医学前沿（英文）》 2023年 第17卷 第2期   页码 330-338 doi: 10.1007/s11684-022-0933-2

摘要： Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

关键词： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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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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Effects of iron oxide nanoparticles on phenotype and metabolite changes in hemp clones ( L.)

《环境科学与工程前沿（英文）》 2022年 第16卷 第10期 doi: 10.1007/s11783-022-1569-9

摘要：

● Fe3O4 NPs increased the biomass and chlorophyll content of hemp clones.

关键词： Fe3O4 nanoparticle     Hemp     Growth enhancement     THC     Metabolite    

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Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional

null

《医学前沿（英文）》 2014年 第8卷 第3期   页码 337-346 doi: 10.1007/s11684-014-0349-8

摘要：

Traditional Chinese medicine (TCM) investigates the clinical diagnosis and treatment regularities in a typical schema of personalized medicine, which means that individualized patients with same diseases would obtain distinct diagnosis and optimal treatment from different TCM physicians. This principle has been recognized and adhered by TCM clinical practitioners for thousands of years. However, the underlying mechanisms of TCM personalized medicine are not fully investigated so far and remained unknown. This paper discusses framework of TCM personalized medicine in classic literatures and in real-world clinical settings, and investigates the underlying mechanisms of TCM personalized medicine from the perspectives of network medicine. Based on 246 well-designed outpatient records on insomnia, by evaluating the personal biases of manifestation observation and preferences of herb prescriptions, we noted significant similarities between each herb prescriptions and symptom similarities between each encounters. To investigate the underlying mechanisms of TCM personalized medicine, we constructed a clinical phenotype network (CPN), in which the clinical phenotype entities like symptoms and diagnoses are presented as nodes and the correlation between these entities as links. This CPN is used to investigate the promiscuous boundary of syndromes and the co-occurrence of symptoms. The small-world topological characteristics are noted in the CPN with high clustering structures, which provide insight on the rationality of TCM personalized diagnosis and treatment. The investigation on this network would help us to gain understanding on the underlying mechanism of TCM personalized medicine and would propose a new perspective for the refinement of the TCM individualized clinical skills.

关键词： personalized medicine     complex network     clinical phenotype network     traditional Chinese medicine    

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IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to

《医学前沿（英文）》 2022年 第16卷 第3期   页码 403-415 doi: 10.1007/s11684-021-0858-1

摘要： The morbidity and mortality of myeloproliferative neoplasms (MPNs) are primarily caused by arterial and venous complications, progression to myelofibrosis, and transformation to acute leukemia. However, identifying molecular-based biomarkers for risk stratification of patients with MPNs remains a challenge. We have previously shown that interferon regulatory factor-8 (IRF8) and IRF4 serve as tumor suppressors in myeloid cells. In this study, we evaluated the expression of IRF4 and IRF8 and the JAK2V617F mutant allele burden in patients with MPNs. Patients with decreased IRF4 expression were correlated with a more developed MPN phenotype in myelofibrosis (MF) and secondary AML (sAML) transformed from MPNs versus essential thrombocythemia (ET). Negative correlations between the JAK2V617F allele burden and the expression of IRF8 (P <0.05) and IRF4 (P<0.001) and between white blood cell (WBC) count and IRF4 expression (P <0.05) were found in ET patients. IRF8 expression was negatively correlated with the JAK2V617F allele burden (P <0.05) in polycythemia vera patients. Complete response (CR), partial response (PR), and no response (NR) were observed in 67.5%, 10%, and 22.5% of ET patients treated with hydroxyurea (HU), respectively, in 12 months. At 3 months, patients in the CR group showed high IRF4 and IRF8 expression compared with patients in the PR and NR groups. In the 12-month therapy period, low IRF4 and IRF8 expression were independently associated with the unfavorable response to HU and high WBC count. Our data indicate that the expression of IRF4 and IRF8 was associated with the MPN phenotype, which may serve as biomarkers for the response to HU in ET.

关键词： myeloproliferative neoplasms     IRF4     IRF8     hydroxyurea     essential thrombocythemia    

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Changes of phenotype and function of human CD4 CD25 T cells induced by transfection of Foxp3

WU Kui, BI Yutian, WANG Yaoli, WANG Changzheng

《医学前沿（英文）》 2008年 第2卷 第4期   页码 366-369 doi: 10.1007/s11684-008-0070-6

摘要： The aim of this paper is to explore the effects of transfection of Foxp3 gene on the phenotype and function of naive CD4 T cells. The pMSCV-Foxp3 retroviral vector encoding Foxp3 gene was transduced into the PT67 packaging cell line. Virus-containing supernatant was applied to differentiate CD4CD25 T cells. The resulting cells were sorted with flow cytometry. The expressions of CD25, CD127, CTLA-4 and the proliferation of transfected T cells were examined. The effect of transfected CD4 T cells on the proliferation and cytokine production of CD4CD25 T cells was examined. Foxp3-gene transfected CD4 T cells could express Foxp3 and transfection of Foxp3 gene up-regulated the expressions of CD25 and CTLA-4, but down-regulated CD127 expression. After transfection, the proliferation of CD4 T cells was eliminated. Transfected T cells inhibited the proliferation of CD4CD25 T cells. CD4CD25 T cells acquired a regulatory phenotype and function after it was transduced with the Foxp3 gene. This suggested a key role of Foxp3 in the generation of CD4CD25 regulatory T cells.
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Natural killer cells in liver diseases

null

《医学前沿（英文）》 2018年 第12卷 第3期   页码 269-279 doi: 10.1007/s11684-018-0621-4

摘要：

The liver has been characterized as a frontline lymphoid organ with complex immunological features such as liver immunity and liver tolerance. Liver tolerance plays an important role in liver diseases including acute inflammation, chronic infection, autoimmune disease, and tumors. The liver contains a large proportion of natural killer (NK) cells, which exhibit heterogeneity in phenotypic and functional characteristics. NK cell activation, well known for its role in the immune surveillance against tumor and pathogen-infected cells, depends on the balance between numerous activating and inhibitory signals. In addition to the innate direct “killer” functions, NK cell activity contributes to regulate innate and adaptive immunity (helper or regulator). Under the setting of liver diseases, NK cells are of great importance for stimulating or inhibiting immune responses, leading to either immune activation or immune tolerance. Here, we focus on the relationship between NK cell biology, such as their phenotypic features and functional diversity, and liver diseases.

关键词： natural killer cell     phenotype     immune activation     immune tolerance     liver diseases    

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A frequency error estimation for isogeometric analysis of Kirchhoff–Love cylindrical shells

《结构与土木工程前沿（英文）》 doi: 10.1007/s11709-023-0006-x

摘要： A frequency error estimation is presented for the isogeometric free vibration analysis of Kirchhoff–Love cylindrical shells using both quadratic and cubic basis functions. By analyzing the discrete isogeometric equations with the aid of harmonic wave assumption, the frequency error measures are rationally derived for the quadratic and cubic formulations for Kirchhoff–Love cylindrical shells. In particular, the governing relationship of the continuum frequency for Kirchhoff–Love cylindrical shells is naturally embedded into the frequency error measures without the need of explicit frequency expressions, which usually are not trivial for the shell problems. In accordance with these theoretical findings, the 2nd and 4th orders of frequency accuracy are attained for the isogeometric schemes using quadratic and cubic basis functions, respectively. Numerical results not only thoroughly verify the theoretical convergence rates of frequency solutions, but also manifest an excellent magnitude match between numerical and theoretical frequency errors for the isogeometric free vibration analysis of Kirchhoff–Love cylindrical shells.

关键词： isogeometric analysis     Kirchhoff–Love cylindrical shell     free vibration     frequency error     convergence    

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Calculation of collision frequency function for aerosol particles in free molecule regime in presence

Xiaowei LUO, Yannick BENICHOU, Suyuan YU

《能源前沿（英文）》 2013年 第7卷 第4期   页码 506-510 doi: 10.1007/s11708-013-0275-5

摘要： The collision frequency function for aerosol particles has already been calculated for the free molecule regime and for the continuum range. The present work, taking into account the influence of internal force fields such as magnetic force, electric force and molecular forces, created by particles themselves, recalculated the collision frequency in the case of particles much smaller than the mean free path of the gas (free molecule regime). Attractive forces increase naturally the collision frequency, while repulsive forces decrease it. The calculation was performed for all types of central forces deriving from a potential, including Coulomb forces and Van der Waals forces.

关键词： aerosol particles     collision frequency function     coagulation    

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Fuel variability effect on flickering frequency of diffusion flames

Jizhao LI, Yang ZHANG

《能源前沿（英文）》 2009年 第3卷 第2期   页码 134-140 doi: 10.1007/s11708-009-0034-9

摘要： It is known that fuel variability of different gas suppliers may cause combustion instability in a gas turbine combustor. Mechanisms that control the time scale of the heat release oscillations and acoustic pressure perturbations are both physical and chemical in nature, and thus can be influenced by changes in fuel composition. The intent of this study is to investigate the fuel variability on the flickering frequency of diffusion flames in the hope of understanding some of the fundamental aspects of fuel variability effect on the dynamics of combustion. Experiments were conducted at atmospheric pressure with a matrix of methane and propane blends. An optical fibre system was applied to capture simultaneously the flame flickering at two different light frequencies (430 nm and 516 nm), which provided a means of comparing the chemistry change. It was found that the low frequency oscillation of flow and flame structures depended only weakly on the exit velocities of the fuel, while ambient conditions had a significant effect on flickering frequencies and spectrum. The results of using CH and C H as test fuels at different flow rates showed very little variations, with peak frequencies at 11-13 Hz. When the jet flame was not disturbed, harmonics to at least the third mode were obtained in most of these cases. However, the cases which included CH /C H splits of 90/10, 85/15 and 80/20 by volume showed that unstable flickering frequencies and flame harmonics were not observed. When a mixture of methane/propane at a ratio of 1:1 was used the peak flickering frequency was around 6 Hz, and slight disturbance in the environment would cause the harmonics to disappear. Mechanisms thought to produce changes in the dynamic response and frequency harmonics were discussed.

关键词： fuel variability     flickering frequency     diffusion flames     dynamics of combustion    

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Capacity limitation of nuclear units in grid based on analysis of frequency regulation

Yiping DAI, Pan JIANG, Lin GAO, Weimin KAN, Xiaoqing XIAO, Ge JIN

《能源前沿（英文）》 2012年 第6卷 第2期   页码 148-154 doi: 10.1007/s11708-012-0174-1

摘要： The increasing capacity of nuclear units in power grid poses threat to system stability and security. Load disturbance may cause overspeed of the units and trigger the overspeed protection controller (OPC). Repeating actions of valves have a strong impact on the security of the equipment and may result in a collapse of the power system. Based on the analysis of frequency regulation, mathematic models for nuclear units in the grid are established in this paper to simulate the dynamic process when load disturbance occurs. The critical action of the OPC is proposed as the constraint of safe operation for the units. The relationship between different styles of frequency regulation and the allowable capacity of the nuclear units in the grid is discussed. This research can help to estimate the capacity limitation of nuclear units in the grid.

关键词： nuclear units capacity     overspeed     primary frequency control (PFC)     second frequency control (SFC)    

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Oscillation frequency of simplified arterial tubes

Hui AN, Fan HE, Lingxia XING, Xiaoyang LI

《机械工程前沿（英文）》 2009年 第4卷 第3期   页码 300-304 doi: 10.1007/s11465-009-0038-5

摘要： To construct the spatial kinetic equation of an arterial tube and obtain its radial natural frequency, a linear-elastic and small deformation condition is assumed. The theoretical analysis is first presented and the finite element method is then used to numerically simulate the spatial kinematics. The results show that the first-order frequency is 15.8 Hz and the obtained exact analytical solutions agree well with numerical solutions, which proves that the theoretical analysis and numerical simulation are both correct.

关键词： spatial kinematics     natural frequency     finite element method    

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Parameter identification of interconnected power system frequency after trip-out of high voltage transmission

Xuzhan ZHOU,Shanshan LIU,Mingkun WANG,Yiping DAI,Yaohua TANG

《能源前沿（英文）》 2014年 第8卷 第3期   页码 386-393 doi: 10.1007/s11708-014-0323-9

摘要： Accurate modeling and parameters of high voltage (HV) grid are critical for stability research of system frequency. In this paper, simulation modeling of the system frequency was conducted of an interconnected power system with HV transmission lines in China. Based on recorded tripping data of the HV transmission lines, system parameters were identified by using genetic algorithm (GA). The favorable agreement between simulation results and recorded data verifies the validity of gird models and the accuracy of system parameters. The results of this paper can provide reference for the stability research of HV power grid.

关键词： high voltage (HV) grid     frequency stability parameter identification     primary frequency regulation (PFR)    

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Dependence of error sensitivity of frequency on bias voltage in force-balanced micro accelerometer

Lili CHEN, Wu ZHOU

《机械工程前沿（英文）》 2013年 第8卷 第2期   页码 146-149 doi: 10.1007/s11465-013-0260-z

摘要：

To predict more precisely the frequency of force-balanced micro accelerometer with different bias voltages, the effects of bias voltages on error sensitivity of frequency is studied. The resonance frequency of accelerometer under closed loop control is derived according to its operation principle, and its error sensitivity is derived and analyzed under over etching structure according to the characteristics of Deep Reaction Ion Etching (DRIE). Based on the theoretical results, micro accelerometer is fabricated and tested to study the influences of AC bias voltage and DC bias voltage on sensitivity, respectively. Experimental results indicate that the relative errors between test data and theory data are less than 7%, and the fluctuating value of error sensitivity under the range of voltage adjustment is less than 0.01 μm . It is concluded that the error sensitivity with designed parameters of structure, circuit and process error can be used to predict the frequency of accelerometer with no need to consider the influence of bias voltage.

关键词： Micro-Electro-Mechanical Systems (MEMS)     micro accelerometer     force-balanced micro accelerometer     frequency     error sensitivity    

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标题 作者 时间 类型 操作

Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

期刊论文

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

期刊论文

Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

null

期刊论文

Effects of iron oxide nanoparticles on phenotype and metabolite changes in hemp clones ( L.)

期刊论文

Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional

null

期刊论文

IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to

期刊论文

Changes of phenotype and function of human CD4 CD25 T cells induced by transfection of Foxp3

WU Kui, BI Yutian, WANG Yaoli, WANG Changzheng

期刊论文

Natural killer cells in liver diseases

null

期刊论文

A frequency error estimation for isogeometric analysis of Kirchhoff–Love cylindrical shells

期刊论文

Calculation of collision frequency function for aerosol particles in free molecule regime in presence

Xiaowei LUO, Yannick BENICHOU, Suyuan YU

期刊论文

Fuel variability effect on flickering frequency of diffusion flames

Jizhao LI, Yang ZHANG

期刊论文

Capacity limitation of nuclear units in grid based on analysis of frequency regulation

Yiping DAI, Pan JIANG, Lin GAO, Weimin KAN, Xiaoqing XIAO, Ge JIN

期刊论文

Oscillation frequency of simplified arterial tubes

Hui AN, Fan HE, Lingxia XING, Xiaoyang LI

期刊论文

Parameter identification of interconnected power system frequency after trip-out of high voltage transmission

Xuzhan ZHOU,Shanshan LIU,Mingkun WANG,Yiping DAI,Yaohua TANG

期刊论文

Dependence of error sensitivity of frequency on bias voltage in force-balanced micro accelerometer

Lili CHEN, Wu ZHOU

期刊论文