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

Yong ZHOU, Linjuan OUYANG, Dahu ZHOU, Yicong CAI, Haohua HE

《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 gene family in various plant species has been conducted but little is known about this gene family in watermelon ( ). Here, eight genes were identified in the watermelon genome and are designated , and 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 genes indicates that they had tissue-specific expression patterns with high expression in different tissues including the leaves, flowers and fruits. In addition, the expression of 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 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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PAC在人工流产术后计划生育关爱中的应用

钟慧玲

《中国工程科学》 2014年 第16卷 第5期   页码 31-33

摘要：

文本研究人流后关爱（PAC）在人工流产术后计划生育关爱中的应用。选择2011年1月—2013年1月，武汉市蔡甸区计划生育服务站门诊进行人工流产的260 名病例为分析对象，根据其先后序号按照奇偶顺序分为关爱PAC组和对照组，每组130 例，对PAC组进行流产后关爱指导，而对照组只进行常规处理。一年后，共收回有效问卷248 份，其中关爱组126 份，对照组122 份。PAC组避孕知识和人流后保健知识掌握优良率均高于对照组，生活质量评分有明显优势，而重复流产率明显较低，育龄妇女满意率较高。其差异均有统计学意义（P<0.05）。高价值的PAC关爱，对于减少重复流产的概率和提高生活质量有着积极重要的意义。

关键词： 人工流产     流产后关爱     计划生育关爱     效果分析    

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Combination of western medicine and Chinese traditional patent medicine in treating a family case of

Li Ni, Ling Zhou, Min Zhou, Jianping Zhao, Dao Wen Wang

《医学前沿（英文）》 2020年 第14卷 第2期   页码 210-214 doi: 10.1007/s11684-020-0757-x

摘要： In December 2019, an outbreak of novel coronavirus (2019-nCoV) occurred in Wuhan, Hubei Province, China. By February 14, 2020, it has led to 66 492 confirmed patients in China and high mortality up to ~2.96% (1123/37 914) in Wuhan. Here we report the first family case of coronavirus disease 2019 (COVID-19) confirmed in Wuhan and treated using the combination of western medicine and Chinese traditional patent medicine Shuanghuanglian oral liquid (SHL). This report describes the identification, diagnosis, clinical course, and management of three cases from a family, suggests the expected therapeutic effects of SHL on COVID-19, and warrants further clinical trials.

关键词： novel coronavirus (2019-nCoV)     COVID-19     Chinese traditional patent medicine     Shuanghuanglian oral liquid    

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ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/-catenin signaling by palmitoylation modification

《医学前沿（英文）》 2023年 第17卷 第4期   页码 685-698 doi: 10.1007/s11684-022-0942-1

摘要： Acyl-CoA synthetase long chain family member 5 (ACSL5), is a member of the acyl-CoA synthetases (ACSs) family that activates long chain fatty acids by catalyzing the synthesis of fatty acyl-CoAs. The dysregulation of ACSL5 has been reported in some cancers, such as glioma and colon cancers. However, little is known about the role of ACSL5 in acute myeloid leukemia (AML). We found that the expression of ACSL5 was higher in bone marrow cells from AML patients compared with that from healthy donors. ACSL5 level could serve as an independent prognostic predictor of the overall survival of AML patients. In AML cells, the ACSL5 knockdown inhibited cell growth both in vitro and in vivo. Mechanistically, the knockdown of ACSL5 suppressed the activation of the Wnt/β-catenin pathway by suppressing the palmitoylation modification of Wnt3a. Additionally, triacsin c, a pan-ACS family inhibitor, inhibited cell growth and robustly induced cell apoptosis when combined with ABT-199, the FDA approved BCL-2 inhibitor for AML therapy. Our results indicate that ACSL5 is a potential prognosis marker for AML and a promising pharmacological target for the treatment of molecularly stratified AML.

关键词： acute myeloid leukemia     acyl-CoA synthetase long chain family member 5     Wnt3a     palmitoylation     ABT-199    

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标题 作者 时间 类型 操作

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

期刊论文

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

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

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

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

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

Yong ZHOU, Linjuan OUYANG, Dahu ZHOU, Yicong CAI, Haohua HE

期刊论文

PAC在人工流产术后计划生育关爱中的应用

钟慧玲

期刊论文

Combination of western medicine and Chinese traditional patent medicine in treating a family case of

Li Ni, Ling Zhou, Min Zhou, Jianping Zhao, Dao Wen Wang

期刊论文

ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/-catenin signaling by palmitoylation modification

期刊论文