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奈奎斯特采样定理；亚奈奎斯特采样；最小欧式距离；欠定线性问题；时变维特比算法 1

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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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Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

《医学前沿（英文）》 2023年 第17卷 第3期   页码 493-502 doi: 10.1007/s11684-022-0946-x

摘要： Anaplastic lymphoma kinase (ALK) is the most common fusion gene involved in non-small cell lung cancer (NSCLC), and remarkable response has been achieved with the use of ALK tyrosine kinase inhibitors (ALK-TKIs). However, the clinical efficacy is highly variable. Pre-existing intratumoral heterogeneity (ITH) has been proven to contribute to the poor treatment response and the resistance to targeted therapies. In this work, we investigated whether the variant allele frequencies (VAFs) of ALK fusions can help assess ITH and predict targeted therapy efficacy. Through the application of next-generation sequencing (NGS), 7.2% (326/4548) of patients were detected to be ALK positive. On the basis of the adjusted VAF (adjVAF, VAF normalization for tumor purity) of four different threshold values (adjVAF < 50%, 40%, 30%, or 20%), the association of ALK subclonality with crizotinib efficacy was assessed. Nonetheless, no statistical association was observed between median progression-free survival (PFS) and ALK subclonality assessed by adjVAF, and a poor correlation of adjVAF with PFS was found among the 85 patients who received first-line crizotinib. Results suggest that the ALK VAF determined by hybrid capture-based NGS is probably unreliable for ITH assessment and targeted therapy efficacy prediction in NSCLC.

关键词： ALK fusion     next-generation sequencing     fluorescence in situ hybridization     immunohistochemistry     variant allele frequency     intratumoral heterogeneity     targeted therapy    

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Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

《医学前沿（英文）》 2023年 第17卷 第3期   页码 576-580 doi: 10.1007/s11684-023-0991-0

摘要： Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

关键词： variant    

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Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

《医学前沿（英文）》 2022年 第16卷 第5期   页码 808-814 doi: 10.1007/s11684-021-0878-x

摘要： Epidermolysis bullosa (EB) is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation. Here, we investigated five Chinese families with EB, and eight variants including a novel nonsense variant (c.47G>A, p.W16*) in LAMA3, a known recurrent variant (c.74C>T, p.P25L) in KRT5, 2 novel (c.2531T>A, p.V844E; c.6811_6814del, p.R2271fs) and 4 known (c.6187C>T, p.R2063W; c.7097G>A, p.G2366D; c.8569G>T, p.E2857*; c.3625_3635del, p.S1209fs) variants in COL7A1 were detected. Notably, this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay. Our study expands the mutation spectra of Chinese patients with EB.

关键词： epidermolysis bullosa     LAMA3     COL7A1     KRT5     Chinese families    

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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

null

《医学前沿（英文）》 2018年 第12卷 第3期   页码 319-323 doi: 10.1007/s11684-017-0553-4

摘要：

Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.

关键词： antithrombin deficiency     protein C activity     mutation     variant     venous thromboembolism     anticoagulants    

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Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

《化学科学与工程前沿（英文）》 2023年 第17卷 第2期   页码 183-193 doi: 10.1007/s11705-022-2192-9

摘要： Methanol to aromatics produces multiple products, resulting in a limited selectivity of xylene. Aromatics upgrading is an effective way to produce more valuable xylene product, and different feed ratios generate discrepant product distributions. This work integrates the aromatics separation with toluene disproportionation, transalkylation of toluene and trimethylbenzene, and isomerization of xylene and trimethylbenzene. Exergy and exergoeconomic analyses are conducted to give insights in the splitting ratios of benzene, toluene and heavy aromatics for aromatics upgrading. First, a detailed simulation model is developed in Aspen HYSYS. Then, 300 splitting ratio sets of benzene and toluene for conversion are studied to investigate the process performances. The results indicate that there are different preferences for the splitting ratios of benzene and toluene in terms of exergy and exergoeconomic performances. The process generates lower total exergy destruction when the splitting ratio of toluene varies between 0.07 and 0.18, and that of benzene fluctuates between 0.55 and 0.6. Nevertheless, the process presents lower total product unit cost with the splitting ratio of toluene less than 0.18 and that of benzene fluctuating between 0.44 and 0.89. Besides, it is found that distillation is the biggest contributor to the total exergy destruction, accounting for 94.97%.

关键词： aromatics separation and upgrading     variant splitting ratios     total exergy destruction     total product unit cost    

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Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

《农业科学与工程前沿（英文）》 2015年 第2卷 第3期   页码 216-222 doi: 10.15302/J-FASE-2015072

摘要： Pseudorabies (PR) is a devastating viral disease which leads to fatal encephalitis and respiratory disorders in pigs. Commercial gE-deleted live pseudorabies virus (PRV) vaccine has been widely used to control this disease in China. However, the new-emerging variants of PRV compromises the protection provided by current vaccines and lead to the outbreak of PR in vaccinated pig herds. Several killed and live vaccine candidates based on current PRV variants have been reported to be effective to control the disease. A subunit vaccine based on gB protein, one major PRV glycoprotein which elicits strong humoral and cellular immune responses, however, was never evaluated for protection against the current circulating PRV variants. In this study, full-length PRV gB protein was successfully expressed in baculovirus/insect cells in the soluble format and was tested on 3-week-old piglets as a subunit vaccine. Compared with unvaccinated pigs, the gB-vaccinated pigs developed specific antibody-mediated responses and were protected from the virulent PRV HN1201 challenge. All vaccinated pigs survived without showing any PRV-specific respiratory and neurological signs, but all unvaccinated pigs died within 7 days after HN1201 challenge. Hence, this novel gB-based vaccine could be applied as an effective subunit vaccine to control PRV variant in China.

关键词： pseudorabies virus     glycoprotein B protein     subunit vaccine    

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Genome-wide association studies: inherent limitations and future challenges

null

《医学前沿（英文）》 2012年 第6卷 第4期   页码 444-450 doi: 10.1007/s11684-012-0225-3

摘要：

Genome-wide association studies (GWAS) have achieved great success in identifying genetic variants related to complex human diseases such as cancer and have provided valuable insights into their genetic architecture. Recently, GWAS is quite the fashion in China. However, there are issues related to its nature. Enormous work needs to be done in the post-GWAS era. Deep sequencing followed by functional studies will be needed to elucidate the underpinning biological mechanisms and further translate GWAS findings into medical practice. Along with pharmacogenomics, the success of GWAS in identifying genetic risk factors and genetic differences in drug response has been gradually enabling personalized medicine. In this article, we used hepatocellular carcinoma (HCC) as an example to demonstrate some of the inherent limitations and summarized future challenges of GWAS.

关键词： genome-wide association studies (GWAS)     genetic variant     cancer     limitation     challenge    

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定制化产品智能设计关键技术研究综述

张树有, 徐敬华, 苟华伟, 谭建荣

《工程（英文）》 2017年 第3卷 第5期   页码 631-640 doi: 10.1016/J.ENG.2017.04.005

摘要：

大数据和信息物理系统(CPS)等技术的发展使人们对产品设计的需求增加。产品数字设计包括使用先进的数字技术完成产品设计过程，如几何建模、运动学和动态仿真、多学科耦合、虚拟装配、虚拟现实(VR)、多目标优化(MOO)以及人机交互。定制产品智能设计的关键技术包括：客户需求的描述与分析、客户基础的产品族设计(PFD)、定制产品的配置和模块化设计、定制产品的变型设计，以及产品智能设计的知识推送。定制产品智能设计的发展趋势包括定制产品的大数据驱动智能设计技术和定制的设计工具和应用。通过计算机的高精度数控机床设计，我们验证了该方法的有效性。

关键词： 定制化产品     用户需求     变形设计     智能设计     知识推送    

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亚奈奎斯特采样的数据恢复：性能极限与恢复算法

罗茜倩,张朝阳

《信息与电子工程前沿（英文）》 2021年 第22卷 第2期   页码 141-286 doi: 10.1631/FITEE.1900320

摘要： 奈奎斯特频率是一般带限信号进行无损采样的采样率下界，然而在某些情景中，亚奈奎斯特频率也足以进行无损采样和信号恢复。以往对亚奈奎斯特采样的研究主要集中在利用信号变换来降低信号维度，但是亚奈奎斯特采样信号的结构并没有得到充分研究。本文针对线性调制基带信号的亚奈奎斯特采样，研究其信号恢复性能极限与算法。该问题中，原信号维度无法降低，因此亚奈奎斯特采样不可避免会带来信息损失，信号恢复也变成一个欠定线性问题。本文采用两种亚奈奎斯特采样方法对线性调制基带信号进行采样，分别研究了两种采样方法下的性能极限和信号恢复算法。首先，针对两种亚奈奎斯特采样方法，分别计算了采样序列之间的最小归一化欧氏距离，以此作为最优性能的指标。然后，在基带信号有限符号集的限制条件下，采用改进的时变维特比算法从亚奈奎斯特采样序列中恢复原信号。将仿真得到的亚奈奎斯特采样的误比特率与其性能的理论极限比较，并与奈奎斯特采样性能对比，验证了时变维特比算法在信号恢复问题中的优良性能。

关键词： 奈奎斯特采样定理；亚奈奎斯特采样；最小欧式距离；欠定线性问题；时变维特比算法    

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2008—2017年河南省腹泻患者来源单相鼠伤寒沙门菌ST34的基因组流行病学特征研究 Article

穆玉娇, 李瑞超, 杜鹏程, 张沛, 李岩, 崔生辉, Séamus Fanning, 白莉

《工程（英文）》 2022年 第15卷 第8期   页码 34-44 doi: 10.1016/j.eng.2022.05.006

摘要：

单相鼠伤寒沙门菌（Salmonella enterica serovar 4,[5],12:i:-, S. 4,[5],12:i:-）作为鼠伤寒沙门菌的变种，已成为全球公共卫生领域备受关注的新兴血清型，其在中国的基因组流行病学特征尚不明确。本研究对2008-2017年分离自腹泻患者的100株序列型34型（ST34）S. 4,[5],12:i:-开展的流行情况、耐药表型和群体基因组学的分析发现：多数菌株对氨苄西林、链霉素、磺胺类和四环素耐药（耐药表型ASSuT）；基于贝叶斯系统发育分析，中国分离株起源于欧洲谱系，进化为携带不同耐药基因和质粒的两个分支。进化支1中gyrA基因点突变和质粒介导喹诺酮耐药基因携带率较高，而进化支2中多数菌株fljBA操纵子插入了耐药编码区域[编码ASSuT耐药表型，包括blaTEM-1B（氨苄西林耐药）、strAB（链霉素耐药）、sul2（磺胺类耐药）和tet(B)（四环素耐药）]，导致了血清型单相变异。IncHI2质粒是该血清型中导致细菌严重耐药的主要可移动遗传元件，普遍存在于进化支1的分离株中。综上，多重耐药S. 4,[5],12:i:-菌株在中国的流行情况日益严重，且进化为携带不同耐药基因的多个谱系，需采取有效措施控制此人畜共患病原体的传播，并基于“同一健康”策略开展监测及制定干预策略。

关键词： 单相鼠伤寒沙门菌     ST34     流行     系统发育     中国谱系    

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标题 作者 时间 类型 操作

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

期刊论文

Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

期刊论文

Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

期刊论文

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

期刊论文

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

null

期刊论文

Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

期刊论文

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

期刊论文

Genome-wide association studies: inherent limitations and future challenges

null

期刊论文

定制化产品智能设计关键技术研究综述

张树有, 徐敬华, 苟华伟, 谭建荣

期刊论文

亚奈奎斯特采样的数据恢复：性能极限与恢复算法

罗茜倩,张朝阳

期刊论文

2008—2017年河南省腹泻患者来源单相鼠伤寒沙门菌ST34的基因组流行病学特征研究

穆玉娇, 李瑞超, 杜鹏程, 张沛, 李岩, 崔生辉, Séamus Fanning, 白莉

期刊论文