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An efficient method for constructing a random insertional mutant library for forward genetics in Nannochloropsis oceanica
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作者 Zhongyi ZHANG Hang LIU +5 位作者 Xiaohui PAN Yanan ZONG Leili FENG Lixian LIU Li GUO Guanpin YANG 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2024年第1期216-225,共10页
Insertional mutation,phenotypic evaluation,and mutated gene cloning are widely used to clone genes from scratch.Exogenous genes can be integrated into the genome during non-homologous end joining(NHEJ)of the double-st... Insertional mutation,phenotypic evaluation,and mutated gene cloning are widely used to clone genes from scratch.Exogenous genes can be integrated into the genome during non-homologous end joining(NHEJ)of the double-strand breaks of DNA,causing insertional mutation.The random insertional mutant library constructed using this method has become a method of forward genetics for gene cloning.However,the establishment of a random insertional mutant library requires a high transformation efficiency of exogenous genes.Many microalgal species show a low transformation efficiency,making constructing random insertional mutant libraries difficult.In this study,we established a highly efficient transformation method for constructing a random insertional mutant library of Nannochloropsis oceanica,and tentatively tried to isolate its genes to prove the feasibility of the method.A gene that may control the growth rate and cell size was identified.This method will facilitate the genetic studies of N.oceanica,which should also be a reference for other microalgal species. 展开更多
关键词 Nannochloropsis oceanica genetic transformation random insertional mutant library zeocin pretreatment forward genetics
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Evaluation of Compatibilizers for Improving Compatibility between Waste Vegetable Oil and Aged Asphalt
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作者 WANG Yanghui DING Yongjie +3 位作者 LI Danli CAO Zhilong SUN Guoqiang MEI Zijun 《Journal of Wuhan University of Technology(Materials Science)》 SCIE EI CAS CSCD 2024年第5期1278-1286,共9页
Modifying agents 2,2-Bis(4-glycidyloxyphenyl)propane(2BPE)and dibutyl phthalate(DBP)were selected to enhance the compatibility.By using molecular simulation software(Materials Studio,MS),nine systems were constructed,... Modifying agents 2,2-Bis(4-glycidyloxyphenyl)propane(2BPE)and dibutyl phthalate(DBP)were selected to enhance the compatibility.By using molecular simulation software(Materials Studio,MS),nine systems were constructed,including molecular models of aged asphalt and WVO monomers with 2BPE and/or DBP.The solubility parameters,Flory-Huggins parameters,and interaction energies of these systems were calculated to determine the impact of 2BPE and DBP on the compatibility of WVO and aged asphalt.Results showed that the addition of 2BPE and DBP reduced the difference in the solubility parameters between WVO and aged asphalt,thus improving the compatibility between WVO and aged asphalt.Additionally,using a combination of 2BPE and DBP in both aged asphalt and rejuvenator was found to be more effective than using either 2BPE or DBP alone.Finally,it was determined that evaluating the compatibility of WVO and aged asphalt using Van der Waals potential and non-bonding energy as evaluation indicators was more accurate than using electrostatic potential energy. 展开更多
关键词 road engineering aged asphalt compatibility molecular dynamics solubility parameter Flory-Huggins parameter
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Hypoglycemic Effect of Radix Et Rhizoma Salviae Miltiorrhizae,Guixi Green Tea and Their Compatibility on Mice
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作者 Chen YANG Zhaohui HUANG +6 位作者 Liqing TANG Wenjing HUANG Danyu CHEN Rujun SHI Suoyi HUANG Lixiang LU Shiyou ZHOU 《Medicinal Plant》 2024年第3期53-55,70,共4页
[Objectives]To explore the hypoglycemic effect of Radix Et Rhizoma Salviae Miltiorrhizae,Guixi green tea and their compatibility on mice,so as to provide more options for the adjuvant treatment of diabetes and improve... [Objectives]To explore the hypoglycemic effect of Radix Et Rhizoma Salviae Miltiorrhizae,Guixi green tea and their compatibility on mice,so as to provide more options for the adjuvant treatment of diabetes and improve the comprehensive utilization value of Guixi green tea.[Methods]After being fed adaptively for 7 d,60 SPF-grade male mice were intraperitoneally injected with alloxouracil(180 mg/kg)to induce hyperglycemia model,from which 35 mice with a successful model were selected.They were randomly divided into 5 groups(Danshen group,green tea group,compatible group,positive control group and blank control group),with 7 animals in each group.The mice in all groups were administered according to the dose of 200 mg/kg once a day for 15 d.After the last administration,their body weight was measured on the 15 th day after fasting for 12 h,and their fasting blood glucose was measured by tail clipping.[Results]After modeling,the mice in each group showed typical hyperglycemia symptoms,namely obvious polydipsia,polyphagia,polyuria and weight loss.Compared with the blank control group,Danshen group and green tea group had obvious hypoglycemic effect(P<0.05),and compatible group had significant hypoglycemic effect(P<0.01).Compared with the blank control group,the weight loss of diabetic mice could also be inhibited in green tea group and compatible group(P<0.05).[Conclusions]Danshen,Guixi green tea and their compatibility had the effect of lowering blood sugar,among which the compatible group had the most obvious effect. 展开更多
关键词 SALVIA miltiorrhiza Guixi green TEA compatibility BLOOD SUGAR
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Effects of Radix Puerariae, Radix Rehmanniae and Their Compatibility on Blood Glucose and Blood Lipids in Mice
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作者 Yumei ZHANG Yulin ZHAO +3 位作者 Yanmei QIN Jialing WEI Xiang QIN Suoyi HUANG 《Medicinal Plant》 2024年第1期45-47,共3页
[Objectives]To explore the effects of the compatibility of Radix Puerariae and Radix Rehmanniae on blood glucose and blood lipids in diabetic mouses.[Methods]Diabetic mouse model was established.The body weight and fa... [Objectives]To explore the effects of the compatibility of Radix Puerariae and Radix Rehmanniae on blood glucose and blood lipids in diabetic mouses.[Methods]Diabetic mouse model was established.The body weight and fasting blood glucose of mice were measured after 7 and 14 d of administration,and the biochemical indicators of blood lipids(TC,HDL-C,and LDL-C)were detected after 14 d of administration.[Results]Compared with the Radix Puerariae group and Radix Rehmanniae group,the compatibility group(1:2)had the best hypoglycemic effect(P<0.05),and TC and LDL-C in the compatibility group(2:1)significantly decreased(P<0.05),while HDL-C in the compatibility group(1:1)significantly increased(P<0.05).[Conclusions]Radix Puerariae,Radix Rehmanniae and their combination can reduce the blood glucose of diabetic mice.The compatibility group(1:2)had a significant hypoglycemic effect(P<0.05),and LDL-C in the compatibility group(2:1)significantly declined,while HDL-C in the compatibility group(1:1)rose significantly. 展开更多
关键词 Radix Puerariae Radix Rehmanniae compatibility Hypoglycemic effect Blood lipids
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Interaction between diet and genetics in patients with inflammatory bowel disease
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作者 Daniéla Oliveira Magro Ligia Yukie Sassaki Júlio Maria Fonseca Chebli 《World Journal of Gastroenterology》 SCIE CAS 2024年第12期1644-1650,共7页
In this editorial,we comment on the article by Marangoni et al,published in the recent issue of the World Journal of Gastroenterology 2023;29:5618-5629,about“Diet as an epigenetic factor in inflammatory bowel disease... In this editorial,we comment on the article by Marangoni et al,published in the recent issue of the World Journal of Gastroenterology 2023;29:5618-5629,about“Diet as an epigenetic factor in inflammatory bowel disease”.The authors emphasized the role of diet,especially the interaction with genetics,in promoting the inflam-matory process in inflammatory bowel disease(IBD)patients,focusing on DNA methylation,histone modifications,and the influence of microRNAs.In this editorial,we explore the interaction between genetics,gut microbiota,and diet,in an only way.Furthermore,we provided dietary recommendations for patients with IBD.The Western diet,characterized by a low fiber content and deficiency the micronutrients,impacts short-chain fatty acids production and may be related to the pathogenesis of IBD.On the other hand,the consumption of the Mediter-ranean diet and dietary fibers are associated with reduced risk of IBD flares,particularly in Crohn’s disease(CD)patients.According to the dietary guidance from the International Organization for the Study of Inflammatory Bowel Diseases(IOIBD),the regular consumption of fruits and vegetables while reducing the consumption of saturated,trans,dairy fat,additives,processed foods rich in maltodextrins,and artificial sweeteners containing sucralose or saccharine is recommended to CD patients.For patients with ulcerative colitis,the IOIBD recommends the increased intake of natural sources of omega-3 fatty acids and follows the same restrictive recommendations aimed at CD patients,with the possible inclusion of red meats.In conclusion,IBD is a complex and hetero-geneous disease,and future studies are needed to elucidate the influence of epigenetics on diet and microbiota in IBD patients. 展开更多
关键词 DIET genetics MICRORNAS Gastrointestinal microbiome Inflammatory bowel diseases Crohn’s disease
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A Theory of Bio-Quantum Genetics
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作者 Jianzhong Zhao 《Journal of Quantum Information Science》 CAS 2024年第1期15-27,共13页
The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics... The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large. 展开更多
关键词 Bio-Quantum genetics Quantum Mechanics GENES Soft Genes Quantum Mechanism of Mendel Plant Heredity Quantum Mechanism of Family Inheritance
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The Practice and Exploration of Applying EBM to Bilingual Teaching of Medical Genetics at OSBCM
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作者 Rong Liu Huaming Zuo 《Open Journal of Applied Sciences》 2024年第4期983-990,共8页
In the process of teaching medical genetics of undergraduate clinical medicine, the practice and exploration of applying EBM to the bilingual teaching of OSBCM medical genetics are carried out. Using CBL and PBL as th... In the process of teaching medical genetics of undergraduate clinical medicine, the practice and exploration of applying EBM to the bilingual teaching of OSBCM medical genetics are carried out. Using CBL and PBL as the carrier can make up for the shortcomings of a single teaching mode, synthesize the advantages of multiple teaching modes. It starts from integrating the basic theoretical knowledge of medicine and clinical practice knowledge, improving students’ bilingual level of medical genetics, cultivating students’ literature retrieval ability, and promoting early clinical, multi-clinical and repeated clinical consciousness for medical students. Therefore, it is more conducive to cultivate students’ ability to learn independently, accurately analyze and solve problems, improve medical students’ clinical thinking ability and scientific research awareness, improve medical students’ ability of international communication, and lay a solid foundation for improving medical students’ future post competence, innovative spirit and lifelong learning ability. 展开更多
关键词 Medical genetics Evidence Based Medicine Organ-System-Based Curriculum Model Problem Based Learning Case-Based Learning
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A Preliminary Study on Conservation Genetics of Three Endangered Orchid Species 被引量:16
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作者 李昂 罗毅波 +1 位作者 熊治廷 葛颂 《Acta Botanica Sinica》 CSCD 2002年第2期250-252,共3页
采用随机扩增多态DNA(RAPD)分析研究了中国 3种珍稀濒危兰科植物硬叶兜兰 (PaphiopedilummicranthumTangetWang)、麻栗坡兜兰 (P .malipoenseS .C .ChenetTsi)和独花兰 (ChangnieniaamoenaChien)的遗传多样性与群体遗传结构。 12个RAPD... 采用随机扩增多态DNA(RAPD)分析研究了中国 3种珍稀濒危兰科植物硬叶兜兰 (PaphiopedilummicranthumTangetWang)、麻栗坡兜兰 (P .malipoenseS .C .ChenetTsi)和独花兰 (ChangnieniaamoenaChien)的遗传多样性与群体遗传结构。 12个RAPD引物在 2种兜兰中共扩增出 131条带。对 4个硬叶兜兰群体的检测表明其物种水平的多态条带百分率 (PPB)为 71.6 % ,Nei的基因多样度 (h)为 0 .2 171,Shannon多样性指数 (I)为 0 .330 1;4个群体的平均多样性水平为PPB =45 .2 % ,h =0 .145 7,I =0 .2 2 0 4,低于远交兰花的平均水平。在总遗传变异中 ,群体间遗传变异占 2 0 .31% ,略高于远交物种的平均水平。在物种水平上 ,麻栗坡兜兰的PPB为 49.5 % ,h为 0 .1174,I为0 .176 4,均大大低于硬叶兜兰。对 11个独花兰群体采用 16个RAPD引物共扩增出 119条带。物种水平PPB =76 .5 % ,h =0 .1941,I=0 .30 5 8;在群体水平上 ,上述 3个指标的平均值则分别为 37.2 %、0 .1197和 0 .1810 ,均低于远交兰花的平均水平。群体间的遗传变异占 45 .2 7% ,遗传分化明显高于远交物种的平均水平。导致 3个物种遗传多样性偏低而群体间遗传分化较高的主要原因在于人为的过度采挖和生境的片断化。 展开更多
关键词 PAPHIOPEDILUM Changnienia amoena RAPDS conservation genetics
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Breeding and Utilization of Japonicalinous CMS Line Chunjiang 19A with Wide Compatibility and High Outcrossing Rate 被引量:2
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作者 林建荣 宋昕蔚 +1 位作者 吴明国 阮关海 《Agricultural Science & Technology》 CAS 2012年第3期537-540,共4页
[Objective] To breed and utilize the japonicalinous cytoplasmic male sterile (CMS) line Chunjiang 19A with wide compatibility and high outcrossing rate. [Method] Cbunjiang 16A was used as the female parent to cross ... [Objective] To breed and utilize the japonicalinous cytoplasmic male sterile (CMS) line Chunjiang 19A with wide compatibility and high outcrossing rate. [Method] Cbunjiang 16A was used as the female parent to cross with Indica-Japonica crossing material B125, which was used as male parent. Backcross breeding was contin- ued for consecutive generations to breed the CMS lines with wide compatibility and high outcrossing rate. [Result] Chunjiang 19A is a late medium Japonica CMS line with good fertility stability. The proportion of sterile plants and pollen abortion rates are 100% and the Cheng's index is 14. It is the japonicalinous CMS line with early flowering, partial stigma exsertion, high outcrossing rate, wide compatibility, high re- sistance to stripe disease and good combining ability. The hybrid rice combinations originated from Chunjiang 19A have strong tUlering ability, dominant heterosis, high resistance to stripe disease, great yield potential and good color change at mature stage. [Conclusion] The successful breeding of Chunjiang 19A laid good foundation for the breeding of Japonica hybrid rice and Indica-Japonica hybrid rice combinations with high seed production and dominant heterosis, showing a promising application prospect. 展开更多
关键词 Japonicalinous CMS line Chunjiang 19A High outcrossing rate Wide compatibility BREEDING
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A Preliminary Study on Conservation Genetics of Endangered Vatica guangxiensis (Dipterocarpaceae) 被引量:10
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作者 李巧明 许再富 何田华 《Acta Botanica Sinica》 CSCD 2002年第2期246-249,共4页
运用 2 0个 10碱基随机引物 ,对中国龙脑香科 (Dipterocarpaceae)特有的珍稀濒危植物版纳青梅 (VaticaguangxiensisX .L .Mo)进行了RAPD多态性分析。 3个自然居群和 1个迁地保护居群 (分布于云南和广西 )共扩增出2 31个位点 ,多态位点... 运用 2 0个 10碱基随机引物 ,对中国龙脑香科 (Dipterocarpaceae)特有的珍稀濒危植物版纳青梅 (VaticaguangxiensisX .L .Mo)进行了RAPD多态性分析。 3个自然居群和 1个迁地保护居群 (分布于云南和广西 )共扩增出2 31个位点 ,多态位点所占比例 (PPB)为 5 3.6 8% ;观察等位基因数na =1.5 36 8,有效等位基因数ne =1.2 878,Nei基因多样性指数h为 0 .16 86 ,居群内的遗传多样性水平较低。基于AMOVA和POPGENE的结果均表明居群内的遗传变异大于居群间的遗传变异。居群内的遗传变异为 5 5 .0 9% ,居群间的变异为 44 .91% (AMOVA) ;基因分化系数Gst为 0 .3746 (POPGENE) ,表明居群间存在高水平的遗传分化。研究结果对该濒危植物的保护有重要意义。考虑到低水平的遗传多样性和高水平的居群分化 ,通过居群间种子和幼苗的交换来促进基因流是可行的保护方案。迁地保护居群 (ML)不具最高的遗传多样性 ,表明为了保护此濒危物种的全部遗传变异 。 展开更多
关键词 Vatica guangxiensis RAPD genetic diversity conservation biology
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Pollination Compatibility of Six Lycium barbarum L.Varieties 被引量:1
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作者 焦恩宁 李晓莺 +1 位作者 何军 戴国礼 《Agricultural Science & Technology》 CAS 2013年第11期1542-1544,1549,共4页
[Objective] The aim was to research pol ination compatibility of Six Lycium barbarum L. Varieties. [Method] Self-fertilization and reciprocal cross fertilization tests were conducted among the Six Lycium barbarum L. V... [Objective] The aim was to research pol ination compatibility of Six Lycium barbarum L. Varieties. [Method] Self-fertilization and reciprocal cross fertilization tests were conducted among the Six Lycium barbarum L. Varieties. [Result] Ningqi No.3 was of self-incompatibility and the self-fertilization fruit set ratio was only 1.33%; the self-compatibility of Ningqi No.2 was only 31.74%; the rest kept self-compatibility higher than 50%. The six varieties al showed better compatibility in general, espe-cial y for Ningqi No.3, whose fruit set ratio and weight of single fruit can be im-proved once a suitable pol inizer is found. [Conclusion] The research providers refer-ences for pol inizer-trees in production. 展开更多
关键词 Lycium barbarum L POLLINATION Fruit set ratio compatibility
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Compound Genetics Annealing Optimal Algorithm for Realization of Locus Deduction of a Plane Link 被引量:1
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作者 林晓通 林晓辉 +1 位作者 黄卫 王宁生 《Journal of Southeast University(English Edition)》 EI CAS 2002年第4期310-314,共5页
A compound algorithm of genetic annealing is designed for optimizing the luffing mechanism locus of a plane link by means of random optimal algorithm, genetic and annealing algorithm. The computing experiment shows th... A compound algorithm of genetic annealing is designed for optimizing the luffing mechanism locus of a plane link by means of random optimal algorithm, genetic and annealing algorithm. The computing experiment shows that the algorithm has much better steady convergence performance of optimal process and can hunt out the global optimal solution by biggish probability for objective function of multi peak value. 展开更多
关键词 genetic annealing algorithm luffing mechanism optimal algorithm
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Study on the Acute Toxicity and Genetics Toxicity of Bensulfuronk-methyl on Danio rerio 被引量:11
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作者 姜罡丞 《Agricultural Science & Technology》 CAS 2009年第4期128-131,共4页
[Objective] The aim was to study the effect of bensulfuron-methyl herbicide on acute toxicity and genetics toxicity of Danio redo. [ Method] Median lethal concentration was calculated by acute toxicity test, and analy... [Objective] The aim was to study the effect of bensulfuron-methyl herbicide on acute toxicity and genetics toxicity of Danio redo. [ Method] Median lethal concentration was calculated by acute toxicity test, and analyzing the herbicide whether existing in potential toxicity to aquatic organisms or not. Based on the study of acute toxicity, genetics toxicity was carried out, by calculating the micronucleus rate to judge bensulfuron-methyl herbicide whether existing in potential toxicity or not. [ Result ] The LD5o (24 h and 48 h) of bensulfuron-methyl herbicide are 0.698 ml/L and 0.637 ml/L respectively, the safe concentration was 0.159 ml/L. The results on the effects of micronucleus (MN) in erythrocytes of Danio redo induced by bensulfuron-methyl at different times and different concentrations showed that the MN rate of control group was 0.010 3%, the highest MN rate of experimental group reached to 0. 372%, it also indicated that bensulfuron-methyl herbicide had genetics toxicity to Danio redo. At the same detection time, there was dose-effect relationship of MN rate in erythrocytes between treatment and control groups with different concentrations. In the same treatment group, the MN rate in erythrocytes reached to peak value at 24 h, and decreased at 48 h and 72 h with the infection time was prolonged. [ Conclusion ] The study provides some basis for scientifically selecting and reasonably using herbicide. 展开更多
关键词 Danio rerio BENSULFURON-METHYL MICRONUCLEUS Acute toxicity genetics toxicity
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STUDY ON THE STARCH GRAFTED ACRYLATE MONOMERS AND ITS COMPATIBILITY FOR THE BLEND SYSTEM OF STARCH AND POLYETHYLENE
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作者 于九皋 李新蕊 《Transactions of Tianjin University》 EI CAS 1997年第1期56-61,共6页
By means of initiation of the high temperature and shearing stress of an extruder,we synthesized the graft copolymer of starch with acrylate monomers based on the simple dry method.The eff... By means of initiation of the high temperature and shearing stress of an extruder,we synthesized the graft copolymer of starch with acrylate monomers based on the simple dry method.The effects of reaction conditions on graft copolymerization were discussed. Grafted starch used as a compatibilizer for the blend system of starch and polyethylene was further investigated. The results indicate that grafted starch as a compatibilizer can improve the mechanical properties and rheologic properties of the blend of starch and polyethylene. 展开更多
关键词 STARCH ACRYLATE graft copolymerization compatibility
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儿童药物难治性癫痫的遗传学及临床特征分析
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作者 左然然 孙素真 《中国全科医学》 CAS 北大核心 2025年第6期756-762,共7页
背景目前儿童药物难治性癫痫(DRE)在儿童癫痫中的占比维持在30%左右,且常合并精神发育迟滞,影响患儿生活质量,因此DRE的诊疗仍然是神经病学的重大挑战。目的分析儿童DRE的遗传学特点及临床特征,为临床进行基因检测提供理论依据。方法回... 背景目前儿童药物难治性癫痫(DRE)在儿童癫痫中的占比维持在30%左右,且常合并精神发育迟滞,影响患儿生活质量,因此DRE的诊疗仍然是神经病学的重大挑战。目的分析儿童DRE的遗传学特点及临床特征,为临床进行基因检测提供理论依据。方法回顾性选取2020—2022年于河北省儿童医院住院治疗且完善基因检测的95例DRE患儿为研究对象,根据基因检测结果分为基因突变阳性组(44例)和基因突变阴性组(51例)。收集患儿的一般资料(包括性别、发病年龄、用药情况、发热惊厥史、癫痫家族史等)、临床特征(发作类型、癫痫综合征、发育情况)、辅助检查[基因检测、视频脑电图(VEEG)检查、神经影像学检查],分析DRE的遗传病因及临床特征。结果95例DRE患儿中,男55例(57.9%)、女40例(42.1%),中位发病年龄为1.00(0.50,4.00)岁,用药数量为3(2,4)种;基因突变阳性组患儿发病年龄小于基因突变阴性组(Z=-5.322,P=0.001);两组患儿性别、发热惊厥史、癫痫家族史、用药数量比较,差异均无统计学意义(P>0.05)。38例(40.0%)的患儿确诊为癫痫综合征,其中76.3%(29/38)在新生儿或婴儿期发病;基因突变阳性组患儿癫痫综合征占比高于基因突变阴性组(χ^(2)=12.065,P=0.001)。临床发作类型多样,最常见的为2种及以上发作类型,占52.6%(50/95),其次为单一局灶性发作,占33.7%(32/95);两组DRE患儿发作类型比较,差异无统计学意义(χ^(2)=2.920,P=0.404)。57例患儿完善了发育筛查,其中43例(75.4%)在发病后出现不同程度的发育迟缓,33例(76.7%)表现为全面性发育迟缓;基因突变阳性组患儿发育迟缓占比高于基因突变阴性组(χ^(2)=5.728,P=0.017)。44例患儿检出变异基因,阳性检出率为46.3%,其中以离子通道类变异为主,SCN1A为最常见的单基因突变。90例(94.7%)患儿VEEG检查异常,以局灶性癫痫放电为主;基因突变阳性组患儿高峰失律占比高于基因突变阴性组(χ^(2)=7.425,P=0.006)。25例(26.3%)患儿存在结构性病因,其中基因突变阳性组12例,基因突变阴性组13例;两组DRE患儿结构性病因比较,差异无统计学意义(χ^(2)=0.039,P=0.844)。结论遗传因素为儿童DRE的重要病因,提示发病年龄小、发育迟缓与遗传性病因有关,应积极早期完善基因检测,有助于早期诊断DRE并精准治疗。 展开更多
关键词 药物难治性癫痫 儿童 遗传学 基因检测 癫痫综合征 临床特征 全面性发育迟缓
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CYP17A1基因突变致先天性肾上腺皮质增生症一例报道并文献复习
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作者 戴遥 薛丽萍 +3 位作者 章诗琪 许敏 章秋 胡红琳 《中国全科医学》 CAS 北大核心 2025年第6期771-776,共6页
17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上... 17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上腺和性腺功能检查等,最终将其明确诊断为CAH并给予规范治疗。故结合该病例,本文回顾总结了17-OHD的鉴别和诊断,以期提高临床对该病的认识,促进临床对17-OHD的规范诊治,为17-OHD的诊断和治疗提供更多的参考资料。 展开更多
关键词 肾上腺皮质疾病 先天性肾上腺皮质增生症 17Α-羟化酶缺陷症 基因诊断 CYP17A1基因
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A Laboratory of Electromagnetic Compatibility for Power System
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作者 张文亮 邬雄 郎维川 《Electricity》 2002年第2期43-46,共4页
The first laboratory of electromagnetic compatibility in Chinais possessed of vivid characteristics in respect of design and configurationof testing equipment. It has successively completed some testing projectsand wi... The first laboratory of electromagnetic compatibility in Chinais possessed of vivid characteristics in respect of design and configurationof testing equipment. It has successively completed some testing projectsand will unfold a more extensive range of measurement and test works inthe days to come.[ 展开更多
关键词 power system electromagnetic compatibility (EMC) electromagnetic interference (EMI) LABORATORY
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Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder
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作者 Wei Zhu 《World Journal of Clinical Cases》 SCIE 2025年第2期5-9,共5页
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopme... Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD. 展开更多
关键词 Sotos syndrome Attention-deficit/hyperactivity disorder Genetic mutation Magnetic resonance imaging Wavelet fusion
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国外遗传学教材“Genetics”一书 简评
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作者 刘丽华 《遗传》 CAS CSCD 北大核心 2004年第1期44-44,共1页
遗传学是生命科学中最富于综合性的中心学科之一,也是现代生命科学发展最为迅速的学科之一。以遗传学为基础发展起来的生物技术正处于浩浩荡荡的新发明浪潮的初期,分子遗传学及生物技术发明创造高潮将要持续到21世纪的很长一段时间,... 遗传学是生命科学中最富于综合性的中心学科之一,也是现代生命科学发展最为迅速的学科之一。以遗传学为基础发展起来的生物技术正处于浩浩荡荡的新发明浪潮的初期,分子遗传学及生物技术发明创造高潮将要持续到21世纪的很长一段时间,并将对医疗、农业、环保等产生革命性的影响。 展开更多
关键词 遗传学 教材 genetics 书评
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中药有效成分结合骨组织工程材料用于骨修复
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作者 吴尧昆 刘成林 +6 位作者 付佳豪 宋伟 陈浩 席洪钟 刘锌 杜斌 孙光权 《中国组织工程研究》 CAS 北大核心 2025年第10期2141-2150,共10页
背景:如何修复骨缺损一直以来是临床难题,中药有效成分在骨修复方面具有良好的生物活性与治疗效果,将中药有效成分与组织工程材料相结合在骨修复领域具有广阔的前景。不同中药有效成分与支架的组合在作用关系方面具有相似之处。目的:搜... 背景:如何修复骨缺损一直以来是临床难题,中药有效成分在骨修复方面具有良好的生物活性与治疗效果,将中药有效成分与组织工程材料相结合在骨修复领域具有广阔的前景。不同中药有效成分与支架的组合在作用关系方面具有相似之处。目的:搜集常见的中药有效成分与支架材料组合的案例,基于七情配伍的启发将组织工程支架与中药有效成分类比为产生配伍关系的两类中药,以二者的作用关系为纲进行归纳总结。方法:检索1998年1月至2024年1月Pub Med和中国知网数据库中发表的相关文献,英文检索词:“traditional Chinese medicine,Chinese medicine,traditional Chinese medicine monomers,bone defect,bone repair,bone tissue engineering,tissue engineering,scaffold”,中文检索词:“中药,中药有效成分,中药单体,骨组织工程,骨组织工程支架,支架,组织工程,骨缺损,骨修复”,最终纳入88篇文献进行综述分析。结果与结论:(1)组织工程支架材料与中药有效成分各自均在骨修复领域有广泛的运用,二者在成骨方面优势明显但仍有许多缺陷,许多研究致力于将二者制备成复合材料,希望通过二者间的相互作用发挥减毒增效作用。(2)一些药物与材料在成骨、抗菌、促血管生成方面能互相促进,增强原有的效果,受到传统方剂配伍观念的启发,文章将其归纳为“相须”关系,并举实例佐证。(3)一些药物能提高材料的强度,而某些材料能对负载于其上的药物实现缓释控释效果、增加载药量与稳定性,或是进行靶向递送,文章将这种单方面的提升效果归纳为“相使”关系。(4)一些中药与材料搭配使用能减少对方的毒副反应,文章将这种减毒关系归纳为“相畏相杀”。(5)文章得出了一个由七情配伍关系启发、基于作用关系分类的关于中药复合支架的全新视角,将中药传统观念引入组织工程领域,为后续复合支架的研究者提供新的研究思路,并在选材搭配方面提供一定的便利。 展开更多
关键词 七情配伍 中药有效成分 中药单体 骨组织工程材料 支架 骨缺损 骨修复 减毒增效
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