检索结果-南通市图书馆

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease

World Journal of Pediatrics 2020年第4期16卷 401-410页

作者： Wei-Hua Sun Bing-Bing Wu Ya-Qiong Wang Meng-Yuan Wu Xin-Ran Dong yue-ping zhang Wei Lu ping zhang Bin Yang Min zhang Hong-Jiang Wu Wen-Hao Zhou Institute of Pediatrics Shanghai Key Laboratory of Birth DefectsChildren’s Hospital of Fudan UniversityWanyuan Road 399Shanghai201102China Key Laboratory of Neonatal Diseases Ministry of HealthChildren’s Hospital of Fudan UniversityShanghai201102China Department of Endocrinology Children’s Hospital of Fudan UniversityShanghai201102China Shanghai Ji-ai Genetics and IVF Institute Obstetrics and Gynecology HospitalFudan UniversityShanghai200011China Shanghai Key Laboratory of Birth Defects The Translational Medicine Center of Children Development and Disease of Fudan UniversityChildren’s Hospital of Fudan UniversityShanghai201102China Department of Radiology Children’s Hospital of ShanghaiShanghai201102China Department of Neurology Children’s Hospital of Fudan UniversityShanghai201102China

Background Maple syrup urine disease(MSUD)is an autosomal recessive inherited disorder that affects the degradation of branched-chain amino acids and is associated with acute and chronic brain dysfunction.This study presents 11 new patients with MSUD and describes the clinical characteristics and gene mutations reported in Chinese individuals.Methods During 2011–2018,11 pedaitric patients with MSUD from 11 Chinese families were analyzed based on clinical characteristics and mass spectrometry,with confirmation via gene sequencing.Novel mutations affecting protein function were predicted with Mutation-Taster,PolyPhen-2,CADD and SIFT software.3D models of the mutated proteins were generated by using the SWISS-MODEL online server,and the models were visualized in PyMOL.The characteristics and gene mutations in patients with MSUD were analyzed retrospectively.Results Seventeen mutations in the BCKDHA,BCKDHB and DBT genes were found,8 of which are novel:c.55C>/T,c.349C>T,c.565C>T,c.808G>A,c.859C>G,and c.1270dupC in BCKDHA;c.275-2A>G in BCKDHB;and c.1291C>T in DBT.Eight patients died.Two patients had severe mental retardation and were physically handicapped.One patient with the intermediate type had relatively good prognosis,with mild psychomotor retardation and adiposity.Four mothers underwent amniocentesis for prenatal diagnosis during their second pregnancy;two fetuses were wild type,and two were carriers of one heterozygous mutation.Conclusions Eight novel mutations were associated with MSUD in Chinese patients.Prenatal diagnosis was successfully performed by genetic analysis.Mutations in the BCKDHB gene were found in the majority of Chinese patients with MSUD.

关键词： Branched-chain amino acids Maple syrup urine disease Mutation Prenatal diagnosis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Retrospective Cohort Study of Preimplantation Genetic Testing for Aneuploidy with Comprehensive Chromosome Screening versus Nonpreimplantation Genetic Testing in Normal Karyotype,Secondary Infertility Patients with Recurrent Pregnancy Loss

引用

Reproductive and Developmental Medicine 2019年第4期3卷 205-212页

作者： Cai-Xia Lei Jiang-Feng Ye Yi-Lun Sui yue-ping zhang Xiao-Xi Sun Department of Genetics Shanghai Ji Ai Genetics and IVF InstituteObstetrics and Gynecology Hospital of Fudan UniversityShanghai 200011China Department of Clinical Epidemiology Research Obstetrics and Gynecology Hospital of Fudan UniversityShanghai 200011China Key Laboratory of Female Reproductive Endocrine Related Diseases Obstetrics and Gynecology Hospital of Fudan UniversityShanghai 200011China

Objective:To evaluate whether preimplantation genetic testing for aneuploidy(PGT-A)with comprehensive chromosome screening increases live birth rate(LBR)in normal karyotype couples with recurrent pregnancy loss(RPL).Methods:A retrospective cohort follow-up study of 506 couples with RPL was conducted between April 2014 and March 2017.Couples were allocated to two groups according to their decision to choose PGT-A or not.The primary outcome was LBR per start/transfer cycle;secondary outcomes were ongoing pregnancy rate and miscarriage rate.Statistical analyses were conducted using univariate and multivariate logistic regression models adjusted for maternal age.Results:LBR per start(26.6%vs.15.4%,relative risk[RR]:2.66,95%confidence interval[CI][1.69-4.20],P<0.0001;adjusted RR[aRR]:2.40,95%CI[1.49-3.86],P=0.0004)and per transfer(44.9%vs.25.1%,RR:3.00,95%CI[1.96-4.60],P<0.0001;aRR:2.64,95%CI[1.68-4.14],P<0.0001)was significantly higher in the PGT-A group than in the non-PGT-A group.The miscarriage rate was significantly lower in the PGT-A group compared to the non-PGT-A group(15.7%vs.34.6%,RR:0.27,95%CI[0.13-0.57],P=0.00005;aRR:0.26,95%CI[0.12-0.57],P=0.0007).Conclusions:LBR per start cycle following PGT-A is significantly higher,and risk of miscarriage is significantly lower among infertile couples with RPL,irrespective of maternal age.PGT-A should be recommended to infertile couples with RPL.

关键词： Comprehensive Chromosome Screening Preimplantation Genetic Testing for Aneuploidy Recurrent Pregnancy Loss

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Outcome of Couples with Reciprocal Translocation Carrier Undergoing the First Preimplantation Genetic Testing Cycles

引用

Reproductive and Developmental Medicine 2018年第1期2卷 30-37页

作者： Cai-Xia Lei Shuo zhang Hai-Yan Sun Sai-Juan Zhu Jing Zhou Jing Fu Yi-Juan Sun Jun-ping Wu yue-ping zhang Xiao-Xi Sun Department of Genetics and IVF Shanghai Ji Ai Genetics and IVF InstituteObstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Department of Female Reproductive Endocrine Related Diseases Key Laboratory of Female Reproductive Endocrine Related DiseasesObstetrics and Gynecology HospitalFudan UniversityShanghai 200011China

Background: Reciprocal translocation(RCP) causes male infertility and female recurrent pregnancy loss. Male and female carriers have different responses to meiotic disturbances. Gender difference in outcomes of the RCP couples undergoing preimplantation genetic testing(PGT) is unknown.Methods: We conducted a retrospective analysis of 238 RCP couples(124 female and 114 male carriers) divided by gender of carrier from March 2014 to March 2017. Blastocysts were divided by day 5 and day 6. Females were divided into older(≥38 years) and younger(<38 years). Logistic regression was fitted for the relationship between gender of carriers and euploidy. Euploidy rate of each group, pregnancy rate, and live birth rate between different genders were analyzed.Results: The sperm live rate, forward motile sperm rate, and normal morphology rate of serum in male RCP group were significantly decreased. The euploidy rate was 30.30% in female group and 34.90% in male group(P = 0.131); 34.50% in day 5 group and 27.50% in day 6 group(P = 0.039); 33.40% in age <38 years group and 22.40% in age ≥38 years group(P = 0.063). Day 5(odds ratio [OR] = 1.388, 95% confidence interval [CI ] = 1.012–1.904; P = 0.042) and younger age(OR = 1.753, 95% CI = 0.97–3.17; P = 0.063) were associated with euploidy. The clinical pregnancy rate(37.90% vs. 41.20%), ongoing pregnancy rate(33.10% vs. 37.70%), and live birth rate(25.80% vs. 31.60%) per initiated were not significantly different in two gender groups.Conclusions: Although gender influence is not significant, couples with male carrier showed better clinical outcomes. The embryo growing rate and female age are important predictions estimating euploidy in RCP couples.

关键词： In Vitro Fertilization Intracytoplasmic Sperm Injection Preimplantation Genetic Diagnosis Preimplantation Genetic Screening Preimplantation Genetic Testing?Aneuploidy Single?Nucleotide Polymorphism

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

In vitro Fertilization with Single-nucleotide Polymorphism Microarray-based Preimplantation Genetic Testing for Aneuploidy Significantly Improves Clinical Outcomes in Infertile Women with Recurrent Pregnancy Loss:A Randomized Controlled Trial

引用

Reproductive and Developmental Medicine 2020年第1期4卷 32-41页

作者： Yi-Lun Sui Cai-Xia Lei Jiang-Feng Ye Jing Fu Shuo zhang Lu Li Xian-Dong Peng yue-ping zhang Guo-Wu Chen Xiao-Xi Sun Shanghai Ji Ai Genetics and IVF Institute Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China

Objective:To evaluate the effect of preimplantation genetic testing for aneuploidy(PGT-A)in infertile patients with recurrent pregnancy loss(RPL).Methods:A prospective randomized clinical trial was performed in a university-affiliated fertility center in Shanghai,China.Patients in the PGT-A group underwent blastocyst biopsy followed by single-nucleotide polymorphism microarray-based PGT-A and single euploid blastocyst transfer,whereas patients in the control group underwent routine in vitro fertilization/ICSI procedures and frozen embryo transfer of 1-2 embryos selected according to morphological standards.Results:Two hundred and seven infertile patients with RPL were included in this study and randomly assigned to either the control or the PGT-A group.Baseline variables and cycle characteristics were comparable between the two groups.The results showed that PGT-A significantly improved the ongoing pregnancy rate(55.34%vs.29.81%)as well as the live birth rate(48.54%vs.27.88%)and significantly reduced the miscarriage rate(0.00%vs.14.42%)on a per-patient analysis.A significant increase in cumulative ongoing pregnancy rates over time was observed in the PGT-A group.Subgroup analysis showed that the significant benefit diminished for patients who attempted≥2 PGT-A cycles.Conclusions:PGT-A significantly improved the ongoing pregnancy and live birth rate,while reduced miscarriage rate in infertile RPL patients.However,the significance diminished in patients attempting≥2 cycles;thus,further studies are warranted to explore the most cost-effective number of attempts in these patients to avoid overuse.

关键词： Assisted Reproductive Treatment Clinical Outcomes Preimplantation Genetic Testing for Aneuploidy Recurrent Pregnancy Loss

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Synthesis and Fluorescence Quenching of Copolymer Containing3, 4, 9, 10-Perylenetetracarboxyl Diimide Side Chains

引用

Chinese Chemical Letters 1999年第11期10卷 953-956页

作者： Zhao zhang Zhao Bin CHEN Feng Lian BAI yue ping zhang Yi Ming MO Min ZHENG Xiao Lin YAN Yu hang LI(Department of Chemistry, Shanxi University, Taiyuan 030006)(Lab of Organic Solid, Institute of Chemistry, Academy Sinica, Beijing 100080) Department of Chemistry Shanxi University Taiyuan 030006 China Lab. of Organic Solid Institute of Chemistry Academy Sinica Beijing 100080 China

A photoluminescence material, copolymer of N-vinylcarbazole (VCz) and N,N'- bisallyl-3, 4. 9, 10-ferylenetetracarboxyl diimide (APTC) chromophores P(VCz-APTC) was synthesized. The fluorescence quenching of P(VCz-APTC)... 详细信息

关键词： 3, 4, 9, 10-perylenetetracarboxyl diimide copolymer fluorescence quenching

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Analysis of China's Electricity Price and Electricity Burden of Basic Industries under the Carbon Peak Target before 2030

引用

CSEE Journal of Power and Energy Systems 2024年第2期10卷 481-491页

作者： yue Qiu Suyang Zhou Wei Gu Xiao-ping zhang School of Electrical Engineering Southeast UniversityNanjingChina School of Electronic Electrical and System EngineeringUniversity of BirminghamU.K.

The Chinese government is deepening reformation of electricity prices during the 14th Five Year Plan period and has set a carbon emission reduction target of reaching carbon peak before 2030.In this context,will the carbon emission target influence electricity pricing and will electricity price influence competitiveness of Chinese main industries are two questions needing to be answered.This paper compares China's electricity price level with the selected major countries in the world,and four typical industries are selected to evaluate their electricity burden respectively.Then,the correlation between residential electricity price and industrial electricity price and the influencing factors is analyzed,from the perspectives of scale,structure and technology.According to the model obtained by regression analysis,the electricity price level and corresponding residential and industrial electricity burden in 2025 and 2030 are forecasted.Index Terms-Electricity burden,industrial electricity price,regression analysis,residential electricity price.

关键词： Electricity burden industrial electricity price regression analysis residential electricity price

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Heat transfer enhanced inorganic phase change material compositing carbon nanotubes for battery thermal management and thermal runaway propagation mitigation

引用

Journal of Energy Chemistry 2024年第2期89卷 226-238,I0006页

作者： Xinyi Dai ping ping Depeng Kong Xinzeng Gao yue zhang Gongquan Wang Rongqi Peng Center for Offshore Engineering and Safety Technology China University of Petroleum(East China)Qingdao 266580ShandongChina College of Chemistry and Chemical Engineering China University of Petroleum(East China)Qingdao 266580ShandongChina

Developing technologies that can be applied simultaneously in battery thermal management(BTM)and thermal runaway(TR)mitigation is significant to improving the safety of lithium-ion battery systems.Inorganic phase change material(PCM)with nonflammability has the potential to achieve this dual function.This study proposed an encapsulated inorganic phase change material(EPCM)with a heat transfer enhancement for battery systems,where Na_(2)HPO_(4)·12H_(2)O was used as the core PCM encapsulated by silica and the additive of carbon nanotube(CNT)was applied to enhance the thermal conductivity.The microstructure and thermal properties of the EPCM/CNT were analyzed by a series of characterization tests.Two different incorporating methods of CNT were compared and the proper CNT adding amount was also studied.After preparation,the battery thermal management performance and TR propagation mitigation effects of EPCM/CNT were further investigated on the battery modules.The experimental results of thermal management tests showed that EPCM/CNT not only slowed down the temperature rising of the module but also improved the temperature uniformity during normal operation.The peak battery temperature decreased from 76℃to 61.2℃at 2 C discharge rate and the temperature difference was controlled below 3℃.Moreover,the results of TR propagation tests demonstrated that nonflammable EPCM/CNT with good heat absorption could work as a TR barrier,which exhibited effective mitigation on TR and TR propagation.The trigger time of three cells was successfully delayed by 129,474 and 551 s,respectively and the propagation intervals were greatly extended as well.

关键词： Inorganic phase change material Carbon nanotube Battery thermal management Thermal runaway propagation Fire resistance Encapsulation

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies

引用

Biomedical and Environmental Sciences 2024年第5期37卷 503-510页

作者： LI Min zhang Yu Lan zhang Kai Li LI ping ping LYU Yu Han LIANG Ya Xin YU yue Department of Gynecology and Obstetrics Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Chinese Academy of Medical Sciences and Peking Union Medical College Beijing HospitalBeijing 100730China The Key Laboratory of Geriatrics Beijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTERL.Methods We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like association.Pedigree and genetic analyses were conducted using genome and exome sequencing.Results Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome sequencing.Genome sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 gene.Four family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in X27.1.Conclusion These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association.However,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关键词： Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-linked

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Compositional evolution for mixed aerosols containing gluconic acid and typical nitrate and the effect of multiply factors on hygroscopicity

引用

Journal of Environmental Sciences 2024年第5期139卷 206-216页

作者： yue Zhu Shufeng Pang Yunhong zhang School of Chemistry and Chemical Engineering Beijing Institute of TechnologyBeijing 100081China

The aging process of atmospheric aerosols usually leads to a mixture of inorganic salts and organic compounds of anthropogenic origin.In organic compounds,polyhydroxy organic acids are important components,however,the study on composition and hygroscopic properties of the mixture containing inorganics and polyhydroxy organic acids is scanty.In this study,gluconic acid,the proxy of polyhydroxy organic acids,is mixed with the representative nitrate(Mg(NO_(3))_(2),Ca(NO_(3))_(2))to form aerosols.ATR-FTIR and optical microscopy are employed to study the component changes and hygroscopicity as a function of relative humidity.As relative humidity fluctuates,the FTIR-ATR spectra display that the internal mixed gluconic acid(CH_(2)(CH)_(4)(OH)_(5)COOH)and nitrate can react to release acidic gases,forming relevant gluconate and further affecting the hygroscopicity.The specific presentation is particles cannot be recovered to their original size after the dehydration-hydration process and there will be some disparities in GF for mixed particles.For the gluconic acid-Ca(NO_(3))_(2)/Mg(NO_(3))_(2)mixtures with molar ratios of 1:1,higher degree of reaction resulting in the production of large amounts of gluconate should be responsible to the lower hygroscopicity compared to ZSR model.For 1:2 gluconic acid-nitrate mixed systems(with higher nitrate content),the hygroscopicity of mixtures are higher than the ZSR prediction.A possible reason could be‘salt-promoting effect’on the organic fractions of the surplus inorganic salt in the mixture.These data can improve the chemical composition list evaluation,in turn hygroscopic properties and phase state of atmospheric aerosol,and then the climate effect.

关键词： Hygroscopicity Gluconic acid Reaction ZSR simulation Size growth factors

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis

引用

World Journal of Gastroenterology 2024年第3期30卷 252-267页

作者： Qing Gu Huan Xia yue-Qiong Song Jun Duan Yun Chen You zhang He-ping Chen Li zhang Department of Elderly Digestive Sichuan Academy of Medical Sciences and Sichuan Provincial People’s HospitalUniversity of Electronic Science and TechnologyChengdu 610072Sichuan ProvinceChina Geriatrics Research Institute Sichuan Provincial People’s HospitalChengdu 610072Sichuan ProvinceChina

BACKGROUND Ulcerative colitis(UC)is an inflammatory condition with frequent relapse and recurrence.Evidence suggests the involvement of SLC6A14 in UC pathogenesis,but the central regulator remains unknown.AIM To explore the role of SLC6A14 in UC-associated pyroptosis.METHODS Quantitative real-time polymerase chain reaction(qRT-PCR),immunoblotting,and immunohistochemical were used to assess SLC6A14 in human UC tissues.Lipopolysaccharide(LPS)was used to induce inflammation in FHC and NCM460 cells and model enteritis,and SLC6A14 levels were assessed.Pyroptosis markers were quantified using enzyme-linked immunosorbent assay,Western blotting,and qRT-PCR,and EdU incubation,CCK-8 assays and flow cytometry were used to examine proliferation and apoptosis.Mouse models of UC were used for verification.RESULTS SLC6A14 was increased and correlated with NLRP3 in UC tissues.LPS-induced FHC and NCM460 cells showed increased SLC6A14 levels.Reducing SLC6A14 increased cell proliferation and suppressed apoptosis.Reducing SLC6A14 decreased pyroptosis-associated proteins(ASC,IL-1β,IL-18,NLRP3).NLRP3 overexpression counteracted the effects of sh-SLC6A14 on LPS-induced FHC and NCM460 cell pyroptosis.SLC6A14 improved the mucosa in mice with dextran sulfate sodium-induced colitis.CONCLUSION SLC6A14 promotes UC pyroptosis by regulating NLRP3,suggesting the therapeutic potential of modulating the SLC6A14/NLRP3 axis.

关键词： Ulcerative colitis SLC6A1 NLRP3 Pyroptosis Inflammasome

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：