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Epidemiological study of a von Hippel-Lindau family in northwest China

null

《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

摘要：

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    

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95式5.8mm班用枪族的研制

朵英贤

《中国工程科学》 1999年 第1卷 第2期   页码 57-61

摘要：

主要叙述我国轻武器行业两代工程技术人员在基础很薄弱的情况下，团结合作，用科学和严密的方法，在很短的时间内研制出高水平的步兵班用枪族，使中国步兵枪械达到世界先进水平，受到军方高度评价。该枪族已于1997年元月正式装备驻港部队，并将陆续装备全军。

关键词： 班用枪族     自动步枪     班用机枪     突击步枪    

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Low-dose CT for lung cancer screening: opportunities and challenges

null

《医学前沿（英文）》 2018年 第12卷 第1期   页码 116-121 doi: 10.1007/s11684-017-0600-1

摘要：

Lung cancer is among the most frequently diagnosed cancers worldwide and the leading cause of cancer death in both males and females. Screening for lung cancer coupled with earlier intervention has long been studied as an approach to mortality reduction. However, minimal progress was achieved until recently, when low-dose spiral computed tomography (LDCT) screening demonstrated a 20% reduction in mortality from lung cancer in a randomized controlled trial (RCT), the National Lung Screening Trial, from the United States. On the basis of this finding, LDCT has been recommended for lung cancer screening in high-risk populations by several clinical guidelines. However, results from the following independent RCTs in Europe failed to show consistent conclusions. In addition, intractable problems gradually emerged with the progress of LDCT screening. This paper summarizes and discusses the main observations and challenges of LDCT screening for lung cancer. Before spreading implementation of LDCT screening, challenges, including high false-positive rates, overdiagnosis, enormous costs, and radiation risk, must be addressed. Complementary biomarkers and technical improvement are expected in the field of lung cancer screening in the near future.

关键词： lung cancer     low-dose computerized tomography     early detection     opportunities     challenges    

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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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Family planning technical services in China

Shang-Chun WU

《医学前沿（英文）》 2010年 第4卷 第3期   页码 285-289 doi: 10.1007/s11684-010-0097-3

摘要： Family planning is a basic state policy in China. Its aim is to control population growth and to enhance population quality. Technical services are the key measures for implementing the family planning policy. In order to ensure that people use safe, effective, and appropriate contraceptive methods based on the government’s commitment, China has established countrywide family planning service networks down to the township level. The people can access various and convenient contraceptive services. In urban areas, all contraceptive services are free. The contraceptive prevalence rate in 2007 was 84.6%, the percentage of intrauterine device (IUD) was 52.3%, that of female sterilization was 32.3%, and that of vasectomy was 6.1%. This means that more than 90% of married childbearing couples were using long-term contraceptives. At the same time, the government gives priority to supporting research on contraceptive technology. Studies’ results have provided scientific evidence for development, introduction, and expansion of contraceptive methods, and also for establishment and revision of the technical guidelines. Great efforts have been made in promoting “human-oriented and client-centered” services during the recent ten years. Remarkable success has been achieved in improving the quality of technical services.

关键词： family planning     contraceptive method     service delivery    

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以喂养方式视角浅析新时期城市基层计生优质服务

严小青

《中国工程科学》 2014年 第16卷 第5期   页码 24-30

摘要：

通过选取杭州市上城区社区卫生院109 例婴儿及其母亲为调查对象，利用SPSS18.0 软件分别从一般参考量、影响喂养方式相关性因素以及基层计生优质服务需求进行数据统计分析，从而得到影响母乳喂养因素、喂养方式与婴儿体格关系以及服务需求重点，从而提出要从卫生计生联手、育医结合，立足基层架构群众满意服务网络；探索途径、优化服务，实现流动人口优质服务一盘棋；强化队伍、创新机制，探索建立科学规范服务考核评估体系三方面全面提升新时期基层计生优质服务水平。

关键词： 喂养方式     统计分析     计生优质服务    

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Systematic screening procedure and innovative energy-saving design for ionic liquid-based extractive

《化学科学与工程前沿（英文）》 2023年 第17卷 第1期   页码 34-45 doi: 10.1007/s11705-022-2234-3

摘要： In the traditional extractive distillation process, organic solvents are often used as entrainers. However, environmental influence and high energy-consumption are significant problems in industrial application. In this study, a systematic screening strategy and innovative energy-saving design for ionic liquid-based extractive distillation process was proposed. The innovative energy-saving design focused on the binary minimum azeotrope mixtures isopropanol and water. Miscibility, environmental impact and physical properties (e.g., melting point and viscosity) of 30 ionic liquids were investigated. 1-Ethyl-3-methyl-imidazolium dicyanamide and 1-butyl-3-methyl-imidazolium dicyanamide were selected as candidate entrainers. Feasibility analysis of these two ionic liquids was further performed via residue curve maps, isovolatility line and temperature profiles. An innovative ionic liquid-based extractive distillation process combining distillation column and stripping column was designed and optimized with the objective function of minimizing the total annualized cost. The results demonstrate that the total annualized cost was reduced by 19.9% with 1-ethyl-3-methyl-imidazolium dicyanamide as the entrainer and by 24.3% with 1-butyl-3-methyl-imidazolium dicyanamide, compared with that of dimethyl sulfoxide. The method proposed in this study is conducive to the green and sustainable development of extractive distillation process.

关键词： ionic liquid     entrainer screening     feasibility analysis     extractive distillation    

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Screening of indicator pharmaceuticals and personal care products in landfill leachates: a case study

《环境科学与工程前沿（英文）》 2023年 第17卷 第9期 doi: 10.1007/s11783-023-1716-y

摘要：

● A systematic framework was developed to identify i-PPCPs for landfill leachate.

关键词： Landfill leachates     PPCPs     Indicator     Screening criteria     Source-specificity    

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SUPEROXIDE DISMUTASE FAMILY GENES IN WATERMELON AND THEIR RESPONSES TO DIFFERENT ABIOTIC STRESSES

《农业科学与工程前沿（英文）》 2021年 第8卷 第4期   页码 645-658 doi: 10.15302/J-FASE -2020350

摘要：

Superoxide dismutase (SOD) is an important enzyme in the antioxidant system of plants and plays a vital role in stress responses by maintaining the dynamic balance of reactive oxygen species (ROS) concentrations. Genome-wide analysis of the SOD gene family in various plant species has been conducted but little is known about this gene family in watermelon (Citrullus lanatus). Here, eight SOD genes were identified in the watermelon genome and are designated ClCSD1-5, ClFSD1-2 and ClMSD according to their metal cofactors. Phylogenetic analysis shows that SOD proteins from various plant species can be classified into five groups and members in the same group possess the same metal cofactor and similar subcellular localizations. Expression analysis of the ClSOD genes indicates that they had tissue-specific expression patterns with high expression in different tissues including the leaves, flowers and fruit. In addition, the expression of ClSOD genes differed appreciably under salinity, drought and abscisic acid (ABA) treatments, indicating that they may be involved in ROS scavenging under different abiotic stresses via an ABA-dependent signaling pathway. These results lay the foundation for elucidating the function of ClSOD genes in stress tolerance and fruit development in watermelon.

 

关键词： abiotic stress / expression analysis / phylogeny / SOD / superoxide dismutase / watermelon    

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Combination of ARTP mutagenesis and color-mediated high-throughput screening to enhance 1-naphthol yield

Chenggang Qiu, Alei Zhang, Sha Tao, Kang Li, Kequan Chen, Pingkai Ouyang

《化学科学与工程前沿（英文）》 2020年 第14卷 第5期   页码 793-801 doi: 10.1007/s11705-019-1876-2

摘要： Strain QCG of the aerobic bacteria is capable of producing 1-naphthol from naphthalene, this strain was first isolated and characterized in this study. Strain QCG was mutagenized to enhance 1-naphthol production, using atmospheric and room temperature plasma (ARTP) technology. Then, a microbial clone screening system was used to accelerate the operation. Meanwhile, a novel color-mediated high-throughput screening using 4-aminoantipyrine was performed to screen mutants. The optimal mutant strain QCG4 produced 19.58±0.34 mg∙L 1-naphthol from naphthalene that was 47.32% higher than that of the original strain (13.29±0.28 mg∙L ). In addition, the optimal conditions for 1-naphthol production via whole-cell catalysis of strain QCG4 were determined to be an OD of 40, 150 mg∙L naphthalene, and 7.5% dimethyl formamide as a co-solvent at pH 7.5 and 26°C for 3 h, resulting in 41.18±0.12 mg∙L 1-naphthol, i.e., the mutant strain produces a 2.1-fold higher yield compared to the original strain.

关键词： Bacillus cereus QCG     naphthalene     1-naphthol     ARTP mutagenesis     high-throughput screening     4-aminoantipyrine    

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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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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

《医学前沿（英文）》 doi: 10.1007/s11684-023-1006-x

摘要： Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness. Homozygosity mapping, integrated single nucleotide polymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141 (c.270G>A, p.Trp90*), DDHD2 (c.411+767_c.1249-327del), and LHFPL5 (c.250delC, p.Leu84*) were identified. A Tmem141p.Trp90*/p.Trp90* mouse model was generated. Behavioral studies showed impairments in learning ability and motor coordination. Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells. Transmission electron microscopy showed abnormal mitochondrial morphology. Furthermore, studies on a human in vitro neuronal model (SH-SY5Y cells) with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function, possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model. Conclusively, panoramic variation analysis revealed that multilocus genomic variations of TMEM141, DDHD2, and LHFPL5 together caused variable phenotypes in patient. Notably, the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder     autosomal recessive intellectual disability     consanguinity     spastic paraplegia     hearing loss     TMEM141    

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Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

《医学前沿（英文）》 2010年 第4卷 第1期   页码 101-105 doi: 10.1007/s11684-010-0017-6

摘要： Abnormal phospholipid metabolism in the brain plays an important role in neuropsychiatric diseases. Phospholipase A2 (PLA2) is a crucial element for normal neuro-physiological function. This study aims to investigate the genetic association between the polymorphism of cytosolic phospholipase A2 (cPLA2) family genes and schizophrenia among Han Chinese in the northern part of China. The polymerase chain reaction-based ligase detection reaction (PCR-LDR) was applied to detect the genotype ten single nucleotide polymorphisms (SNPs) of cPLA2 family genes among 201 pedigrees consisting of fathers, mothers and affected offsprings with schizophrenia. The pedigrees were collected from 2000 to 2006. Haplotype relative risk (HRR) test, transmission disequilibrium test (TDT), haplotype transmission analysis and multiple locus analysis were conducted to analyze the genotyping data. The genotypic frequency of cPLA2 gene did not deviate from Hardy-Weinberg equilibrium either in case or control group. HRR and TDT showed that the ten SNPs were not associated with schizophrenia (>0.05). Analysis for haplotype transmission showed that no haplotype system was associated with schizophrenia (>0.05). The conditioning on allele (COA) and conditioning on gene (COG) tests showed disease associations with the haplotype of rs2162886-rs1668589, rs891014-rs1668589 and rs2307279-rs7542180 (χ=6.913, =0.032; χ=8.393, =0.015; χ=8.447, =0.038). Our data suggest that many loci in the cPLA2 family genes may be associated with schizophrenia.

关键词： schizophrenia     cytosolic phospholipase A2     ligase detection reaction     polymorphism    

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OVEREXPRESSION OF PTRLEA7, A LATE EMBRYOGENESIS ABUNDANT FAMILY GENE FROM PONCIRUS TRIFOLIATA, CONFERS

《农业科学与工程前沿（英文）》 2021年 第8卷 第2期

摘要：

Late embryogenesis abundant (LEA) genes encode highly hydrophilic proteins that are essential in abiotic stress responses. However, most LEA genes in higher plants have not yet been investigated. This study identified an LEA family gene (PtrLEA7) from Poncirus trifoliata and studied its function in drought tolerance. The full-length coding sequence of PtrLEA7 was 420 bp encoding a protein of 139 amino acids. Phylogenetic analysis shows that PtrLEA7 protein belongs to the LEA_4 subfamily. Expression profiling by qPCR found that PtrLEA7 was strongly induced by dehydration, cold and ABA treatments, and slightly induced by salt stress. Subcellular localization reveals that PtrLEA7 protein was located in both cytoplasm and nucleus. To investigate its function, transgenic plants of both tobacco and Poncirus trifoliata overexpressing PtrLEA7 were obtained. Stress tolerance assays show that overexpression lines had enhanced dehydration and drought tolerance compared with wild type plants, indicating that PtrLEA7 positively regulates drought tolerance. In addition, transgenic plants had much higher expression levels of three antioxidant enzyme genes (CAT, SOD and POD) and significantly increased catalase enzyme activity, accompanied by reduced reactive oxygen species accumulation in comparison with wild type plants. Collectively, this study demonstrates that PtrLEA7 can confer enhanced drought tolerance partially via enhancing antioxidant capacity.

 

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A family of non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems

Guizhong XIE, Fenglin ZHOU, Hao LI, Xiaoyu WEN, Fannian MENG

《机械工程前沿（英文）》 2019年 第14卷 第3期   页码 332-341 doi: 10.1007/s11465-019-0540-3

摘要： This study focuses on establishing non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems when the dual boundary element method is applied. The asymptotic behavior of the physical variables in the area near the crack front is fully considered in the construction of the shape function. In the developed quadrilateral and triangular crack front elements, the asymptotic term, which captures the asymptotic behavior of the physical variable, is multiplied directly by the conventional Lagrange shape function to form a new crack front shape function. Several benchmark numerical examples that consider penny-shaped cracks and straight-edge crack problems are presented to illustrate the validity and efficiency of the developed crack front elements.

关键词： Taylor expansion     crack front elements     stress intensity factors     dual boundary element method    

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标题 作者 时间 类型 操作

Epidemiological study of a von Hippel-Lindau family in northwest China

null

期刊论文

95式5.8mm班用枪族的研制

朵英贤

期刊论文

Low-dose CT for lung cancer screening: opportunities and 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

Family planning technical services in China

Shang-Chun WU

期刊论文

以喂养方式视角浅析新时期城市基层计生优质服务

严小青

期刊论文

Systematic screening procedure and innovative energy-saving design for ionic liquid-based extractive

期刊论文

Screening of indicator pharmaceuticals and personal care products in landfill leachates: a case study

期刊论文

SUPEROXIDE DISMUTASE FAMILY GENES IN WATERMELON AND THEIR RESPONSES TO DIFFERENT ABIOTIC STRESSES

期刊论文

Combination of ARTP mutagenesis and color-mediated high-throughput screening to enhance 1-naphthol yield

Chenggang Qiu, Alei Zhang, Sha Tao, Kang Li, Kequan Chen, Pingkai Ouyang

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

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

期刊论文

Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

期刊论文

OVEREXPRESSION OF PTRLEA7, A LATE EMBRYOGENESIS ABUNDANT FAMILY GENE FROM PONCIRUS TRIFOLIATA, CONFERS

期刊论文

A family of non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems

Guizhong XIE, Fenglin ZHOU, Hao LI, Xiaoyu WEN, Fannian MENG

期刊论文