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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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Research and development of a novel subunit vaccine for the currently circulating pseudorabies virusvariant in China

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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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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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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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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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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Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

《医学前沿（英文）》   页码 1006-1009 doi: 10.1007/s11684-023-1000-3

摘要： Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic inheritance

关键词： family craniofacial microsomia     Identification novel mutations    

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A novel ensemble model for predicting the performance of a novel vertical slot fishway

Aydin SHISHEGARAN, Mohammad SHOKROLLAHI, Ali MIRNOROLLAHI, Arshia SHISHEGARAN, Mohammadreza MOHAMMAD KHANI

《结构与土木工程前沿（英文）》 2020年 第14卷 第6期   页码 1418-1444 doi: 10.1007/s11709-020-0664-x

摘要： We investigate the performance of a novel vertical slot fishway by employing finite volume and surrogate models. Multiple linear regression, multiple log equation regression, gene expression programming, and combinations of these models are employed to predict the maximum turbulence, maximum velocity, resting area, and water depth of the middle pool in the fishway. The statistical parameters and error terms, including the coefficient of determination, root mean square error, normalized square error, maximum positive and negative errors, and mean absolute percentage error were employed to evaluate and compare the accuracy of the models. We also conducted a parametric study. The independent variables include the opening between baffles ( ), the ratio of the length of the large and small baffles, the volume flow rate, and the angle of the large baffle. The results show that the key parameters of the maximum turbulence and velocity are the volume flow rate and .

关键词： novel vertical slot fishway     parametric study     finite volume method     ensemble model     gene expression programming    

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Mechanical design, modeling, and identification for a novel antagonistic variable stiffness dexterous

《机械工程前沿（英文）》 2022年 第17卷 第3期 doi: 10.1007/s11465-022-0691-5

摘要： This study traces the development of dexterous hand research and proposes a novel antagonistic variable stiffness dexterous finger mechanism to improve the safety of dexterous hand in unpredictable environments, such as unstructured or man-made operational errors through comprehensive consideration of cost, accuracy, manufacturing, and application. Based on the concept of mechanical passive compliance, which is widely implemented in robots for interactions, a finger is dedicated to improving mechanical robustness. The finger mechanism not only achieves passive compliance against physical impacts, but also implements the variable stiffness actuator principle in a compact finger without adding supererogatory actuators. It achieves finger stiffness adjustability according to the biologically inspired stiffness variation principle of discarding some mobilities to adjust stiffness. The mechanical design of the finger and its stiffness adjusting methods are elaborated. The stiffness characteristics of the finger joint and the actuation unit are analyzed. Experimental results of the finger joint stiffness identification and finger impact tests under different finger stiffness presets are provided to verify the validity of the model. Fingers have been experimentally proven to be robust against physical impacts. Moreover, the experimental part verifies that fingers have good power, grasping, and manipulation performance.

关键词： multifingered hand     mechanism design     robot safety     variable stiffness actuator    

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2019 novel coronavirus outbreak: a quiz or final exam?

Jiuyang Xu, Yijun Chen, Hao Chen, Bin Cao

《医学前沿（英文）》 2020年 第14卷 第2期   页码 225-228 doi: 10.1007/s11684-020-0753-1

摘要： The 2019 novel coronavirus (2019-nCoV) is an emerging pathogen and is threatening the global health. Strikingly, more than 28 000 cases and 550 deaths have been reported within two months from disease emergence. Armed with experience from previous epidemics in the last two decades, clinicians, scientists, officials, and citizens in China are all contributing to the prevention of further 2019-nCoV transmission. Efficient preliminary work has enabled us to understand the basic characteristics of 2019-nCoV, but there are still many unanswered questions. It is too early now to judge our performance in this outbreak. Continuous and strengthened efforts should be made not only during the epidemic, but also afterwards in order to prepare for any incoming challenges.

关键词： 2019-nCoV     novel coronavirus     epidemic     public response    

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Development of a novel hand−eye calibration for intuitive control of minimally invasive surgical robot

《机械工程前沿（英文）》 2022年 第17卷 第3期 doi: 10.1007/s11465-022-0698-y

摘要： Robotic-assisted surgical system has introduced a powerful platform through dexterous instrument and hand−eye coordination intuitive control. The knowledge of laparoscopic vision is a crucial piece of information for robot-assisted minimally invasive surgery focusing on improved surgical outcomes. Obtaining the transformation with respect to the laparoscope and robot slave arm frames using hand−eye calibration is essential, which is a key component for developing intuitive control algorithm. We proposed a novel two-step modified dual quaternion for hand−eye calibration in this study. The dual quaternion was exploited to solve the hand−eye calibration simultaneously and powered by an iteratively separate solution. The obtained hand−eye calibration result was applied to the intuitive control by using the hand−eye coordination criterion. Promising simulations and experimental studies were conducted to evaluate the proposed method on our surgical robot system. We extensively compared the proposed method with state-of-the-art methods. Results demonstrate this method can improve the calibration accuracy. The effectiveness of the intuitive control algorithm was quantitatively evaluated, and an improved hand−eye calibration method was developed. The relationship between laparoscope and robot kinematics can be established for intuitive control.

关键词： minimally invasive surgery     hand−eye calibration     intuitive control     surgical robot     dual quaternion    

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Design and experiment of a novel pneumatic soft arm based on a deployable origami exoskeleton

《机械工程前沿（英文）》 2023年 第18卷 第4期 doi: 10.1007/s11465-023-0770-2

摘要： Soft arms have shown great application potential because of their flexibility and compliance in unstructured environments. However, soft arms made from soft materials exhibit limited cargo-loading capacity, which restricts their ability to manipulate objects. In this research, a novel soft arm was developed by coupling a rigid origami exoskeleton with soft airbags. The joint module of the soft arm was composed of a deployable origami exoskeleton and three soft airbags. The motion and load performance of the soft arm of the eight-joint module was tested. The developed soft arm withstood at least 5 kg of load during extension, contraction, and bending motions; exhibited bistable characteristics in both fully contracted and fully extended states; and achieved a bending angle of more than 240° and a contraction ratio of more than 300%. In addition, the high extension, contraction, bending, and torsional stiffnesses of the soft arm were experimentally demonstrated. A kinematic-based trajectory planning of the soft arm was performed to evaluate its error in repetitive motion. This work will provide new design ideas and methods for flexible manipulation applications of soft arms.

关键词： pneumatic soft arm     soft airbag     deployable origami exoskeleton     bistable characteristics     cargo-loading capacity    

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Serum mitochondrial tsRNA serves as a novel biomarker for hepatocarcinoma diagnosis

《医学前沿（英文）》 2022年 第16卷 第2期   页码 216-226 doi: 10.1007/s11684-022-0920-7

摘要： Hepatocellular carcinoma (HCC), which makes up the majority of liver cancer, is induced by the infection of hepatitis B/C virus. Biomarkers are needed to facilitate the early detection of HCC, which is often diagnosed too late for effective therapy. The tRNA-derived small RNAs (tsRNAs) play vital roles in tumorigenesis and are stable in circulation. However, the diagnostic values and biological functions of circulating tsRNAs, especially for HCC, are still unknown. In this study, we first utilized RNA sequencing followed by quantitative reverse-transcription PCR to analyze tsRNA signatures in HCC serum. We identified tRF-Gln-TTG-006, which was remarkably upregulated in HCC serum (training cohort: 24 HCC patients vs. 24 healthy controls). In the validation stage, we found that tRF-Gln-TTG-006 signature could distinguish HCC cases from healthy subjects with high sensitivity (80.4%) and specificity (79.4%) even in the early stage (Stage I: sensitivity, 79.0%; specificity, 74.8%; 155 healthy controls vs. 153 HCC patients from two cohorts). Moreover, in vitro studies indicated that circulating tRF-Gln-TTG-006 was released from tumor cells, and its biological function was predicted by bioinformatics assay and validated by colony formation and apoptosis assays. In summary, our study demonstrated that serum tsRNA signature may serve as a novel biomarker of HCC.

关键词： tsRNA     biomarker     hepatocarcinoma    

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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

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virusvariant in China

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

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

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

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

Genome-wide association studies: inherent limitations and future challenges

null

期刊论文

Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

期刊论文

A novel ensemble model for predicting the performance of a novel vertical slot fishway

Aydin SHISHEGARAN, Mohammad SHOKROLLAHI, Ali MIRNOROLLAHI, Arshia SHISHEGARAN, Mohammadreza MOHAMMAD KHANI

期刊论文

Mechanical design, modeling, and identification for a novel antagonistic variable stiffness dexterous

期刊论文

2019 novel coronavirus outbreak: a quiz or final exam?

Jiuyang Xu, Yijun Chen, Hao Chen, Bin Cao

期刊论文

Development of a novel hand−eye calibration for intuitive control of minimally invasive surgical robot

期刊论文

Design and experiment of a novel pneumatic soft arm based on a deployable origami exoskeleton

期刊论文

Serum mitochondrial tsRNA serves as a novel biomarker for hepatocarcinoma diagnosis

期刊论文