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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

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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

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

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《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

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《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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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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邱权：高通量表型获取机器人研究（2020年8月18日）

2022年10月17日

关键词：农业科学

基于就医人群的中国多囊卵巢综合征女性的临床表型和治疗结局—— 身体质量指数与地理分布的影响 Article

高敬书, 马红丽, 王宇, 杨新鸣, 曹义娟, 张蓓, 韩丛辉, 吴效科

《工程（英文）》 2021年第7卷第2期页码 170-177 doi: 10.1016/j.eng.2020.12.006

摘要：

遗传因素、生活方式和环境因素与多囊卵巢综合征（PCOS）的发生相关。身体质量指数（BMI）的增加会加剧生殖及代谢障碍，降低PCOS女性的生育能力。本文对在中国大陆21个研究中心开展的一项大样本、多中心、随机对照试验进行二次分析。共有1000名PCOS女性参加本试验。其中，998名PCOS女性被纳入分析。BMI增加与月经失调加剧、高睾酮水平、高代谢综合征患病率以及生活质量降低相关。BMI正常组、超重组和肥胖组的女性人均排卵率分别为83.0%、78.2%和63.6%（P < 0.001），活产率分别为23.6%、18.1%和15.3%（P = 0.030）。与中国南方的PCOS患者相比，北方的PCOS患者生殖结局较差，血糖和血脂代谢不良，运动量少，以及总排卵率更低（81.2% vs 74.8%，绝对差：6.4%，95%置信区间：1.2%~11.5%）。结果显示，中国南北方的汉族PCOS女性具有典型的表型特征。与生活在中国南方的女性相比，在同样的干预措施下，中国北方的女性BMI更高，糖脂代谢障碍更严重，临床结局更差。表型特征及排卵的差异可以通过BMI差异加以解释。

关键词：多囊卵巢综合征体重指数表型中国队列地理分布