检索结果-南通市图书馆

Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

引用

World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu hui-shu e Yue Yu Shi-Ying Ling Li-Li Liang Wen-Juan Qiu hui-Wen Zhang Rui-Xue shuai Hai-Yan Wei Chi-Ju Yang Peng Xu Xi-Gui Chen hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji Xue-Fan Gu Yong-Xing Chen Lian-shu Han Department of endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome Use our pre-submission checklist Avoid common mistakes on your manuscript.

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

Machine Learning-based Identification of Contaminated Images in Light Curve Data Preprocessing

引用

Research in Astronomy and Astrophysics 2024年第4期24卷 287-295页

作者： hui Li Rong-Wang Li Peng shu Yu-Qiang Li Yunnan Observatories Chinese Academy of SciencesKunming 650216China University of Chinese Academy of Sciences Beijing 100049China Key Laboratory of Space Object and Debris Observation Chinese Academy of SciencesNanjing 210023China

Attitude is one of the crucial parameters for space objects and plays a vital role in collision prediction and debris *** light curves to determine attitude is the most commonly used *** photometric observations,outliers may exist in the obtained light curves due to various ***,preprocessing is required to remove these outliers to obtain high quality light *** statistical analysis,the reasons leading to outliers can be categorized into two main types:first,the brightness of the object significantly increases due to the passage of a star nearby,referred to as“stellar contamination,”and second,the brightness markedly decreases due to cloudy cover,referred to as“cloudy contamination.”The traditional approach of manually inspecting images for contamination is time-consuming and ***,we propose the utilization of machine learning methods as a *** Neural Networks and SVMs are employed to identify cases of stellar contamination and cloudy contamination,achieving F1 scores of 1.00 and 0.98 on a test set,*** also explore other machine learning methods such as ResNet-18 and Light Gradient Boosting Machine,then conduct comparative analyses of the results.

关键词： techniques:image processing methods:data analysis light pollution

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

Progress in the research on organic piezoelectric catalysts for dye decomposition

引用

International Journal of Minerals,Metallurgy and Materials 2024年第2期31卷 245-260页

作者： Zhaoning Yang Xiaoxin shu Di Guo Jing Wang hui Bian Yanmin Jia School of Science Xi’an University of Posts and TelecommunicationsXi’an 710121China School of Physics and Information Technology Shaanxi Normal UniversityXi’an 710119China

Organic contaminants have posed a direct and substantial risk to human wellness and the *** recent years,piezo-electric catalysis has evolved as a novel and effective method for decomposing these *** piezoelectric materials offer a wide range of options,most related studies thus far have focused on inorganic materials and have paid little attention to organic *** materials have advantages,such as being lightweight,inexpensive,and easy to process,over inorganic ***,this paper provides a comprehensive review of the progress made in the research on piezoelectric catalysis using organic materials,high-lighting their catalytic efficiency in addressing various *** addition,the applications of organic materials in piezoelectric cata-lysis for water decomposition to produce hydrogen,disinfect bacteria,treat tumors,and reduce carbon dioxide are ***,fu-ture developmental trends regarding the piezoelectric catalytic potential of organic materials are explored.

关键词： piezoelectric catalysis piezoelectric material dye decomposition organic materials

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

Adaptive Algorithms on Maximizing Monotone Nonsubmodular Functions

引用

Journal of the Operations Research Society of China 2024年第2期12卷 428-445页

作者： Bin Liu hui Su shu-Fang Gong Qi-Zhi Fang School of Mathematical Sciences Ocean Universityof ChinaQingdao266100ShandongChina

Submodular optimization is widely used in large *** order to speed up the problems solving,it is essential to design low-adaptive algorithms to achieve acceleration in *** general,the function values are given by a value oracle,but in practice,the oracle queries may consume a lot of ***,how to strike a balance between optimizing them is *** this paper,we focus on maximizing a normalized and strictly monotone set function with the diminishing-return ratio under a cardinality constraint,and propose two algorithms to deal with *** apply the adaptive sequencing technique to devise the first algorithm,whose approximation ratio is arbitrarily close to 1-e^(-γ)in O(logn·log(log k/γ)) adaptive rounds,and requires O(logn^(2)·log(log k/γ)) *** by adding preprocessing and parameter estimation steps to the first algorithm,we get the second *** second algorithm trades a small sacrifice in adaptive complexity for a significant improvement in query *** the same approximation and adaptive complexity,the query complexity is improved *** the best of our knowledge,this is the first paper of designing adaptive algorithms for maximizing a monotone function using the diminishing-return ratio.

关键词： Approximation algorithm Adaptivity Nonsubmodular maximization Cardinality constraint

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

Regulations of m^(6)A and other RNA modifications and their roles in cancer

引用

Frontiers of Medicine 2024年第4期18卷 622-648页

作者： Xin-hui Chen Kun-Xiong Guo Jing Li shu-hui Xu huifang Zhu Guang-Rong Yan Biomedicine Research Center Guangdong Provincial Key Laboratory of Major Obstetric DiseaseGuangdong Provincial Clinical Research Center for Obstetrics and GynecologyState Key Laboratory of Respiratory Diseasethe Third Affiliated Hospital of Guangzhou Medical UniversityGuangzhou510150China

RNA modification is an essential component of the epitranscriptome,regulating RNA metabolism and cellular *** types of RNA modifications have been identified to date;they include N^(6)-methyladenosine(m^(6)A),N^(1)-methyladenosine(m1A),5-methylcytosine(m5C),N^(7)-methylguanosine(m^(7)G),N^(6),2′-O-dimethyladenosine(m^(6)Am),N4-acetylcytidine(ac^(4)C),*** modifications,mediated by regulators including writers,erasers,and readers,are associated with carcinogenesis,tumor microenvironment,metabolic reprogramming,immunosuppression,immunotherapy,chemotherapy,etc.A novel perspective indicates that regulatory subunits and post-translational modifications(PTMs)are involved in the regulation of writer,eraser,and reader functions in mediating RNA modifications,tumorigenesis,and anticancer *** this review,we summarize the advances made in the knowledge of different RNA modifications(especially m^(6)A)and focus on RNA modification regulators with functions modulated by a series of factors in cancer,including regulatory subunits(proteins,noncoding RNA or peptides encoded by long noncoding RNA)and PTMs(acetylation,SUMOylation,lactylation,phosphorylation,etc.).We also delineate the relationship between RNA modification regulator functions and carcinogenesis or cancer ***,inhibitors that target RNA modification regulators for anticancer therapy and their synergistic effect combined with immunotherapy or chemotherapy are discussed.

关键词： RNA modification writers erasers readers regulatory subunits PTMs cancer

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

Highly Red emissive Conjugated Homopolymers Based on Double B←N Bridged Bipyridine Unit

引用

Chinese Journal of Polymer Science 2024年第8期42卷 1029-1037页

作者： Yu-Yue Gao Kai-Yuan Zhang shu-Meng Wang hui Tong Jun Liu State Key Laboratory of Polymer Physics and Chemistry Changchun Institute of Applied ChemistryChinese Academy of SciencesChangchun 130022China School of Applied Chemistry and engineering University of Science and Technology of ChinaHefei 230026China

Conjugated homopolymers based on six-member rings,e.g.,polyfluorene,always exhibit blue emission and conjugated homopolymers based on five-member rings,e.g.,polythiophene,can give red emission with low *** this work,we report a series of new conjugated homopolymers based on six-member rings with high-efficiency deep-red *** repeating units of the red light emitting homopolymers are double B←N bridged bipyridine(BNBP)with the boron atoms functionalized with diphenyl,borafluorene,and 2,7-di-tert-butyl-borafluorene groups,*** relationship between the chemical structures and the opto-electronic properties of the monomers and the homopolymers has been systematically *** three polymers emit pure red light(λ_(max)=656 nm)or deep red light(λ_(max)=693 nm)with fluorescence quantum efficiency in solution higher than 60%.The polymers can be used as the emitters in solution-processed organic light-emitting diodes with red emission and decent device *** work indicates a new strategy to design highly efficient light emitting conjugated polymers.

关键词： Conjugated homopolymers Double B←N bridged bipyridine(BNBP) Deep-red emission High fluorescent efficiency

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

Therapeutic effect of Rhodopseudomonas palustris-Bioconverted extract of Lycium barbarum on Rats with Lead exposure

引用

Biomedical and environmental Sciences 2024年第4期37卷 440-444页

作者： YANG Hong SUN Yi CHAI shu Tong LIANG Yan hui LIU Ya Ni YANG Guan e School of Pharmacy Shanxi Medical UniversityTaiyuan 030001ShanxiChina

Lead is a ubiquitous pollutant and Pb pollution is a global public health *** has been reported to induce multiple adverse effects,including reproductive toxicity,neurotoxicity,carcinogenicity,nephrotoxicity,immunotoxicity,and hypertension[1].The traditional medical treatment available for Pb poisoning is chelation,which can save lives in individuals with very high blood Pb *** commonly used chelating agents include CaNa2eDTA and meso-2,3-dimercaptosuccinic ***,chelation therapy has strong short-term effects on the overall long-term management of Pb exposure.

关键词： converted chelation chelating

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

Simulation Study on Constraining Gravitational Wave Propagation Speed by Gravitational Wave and Gamma-ray Burst Joint Observation on Binary Neutron Star Mergers

引用

Research in Astronomy and Astrophysics 2024年第8期24卷 42-51页

作者： Jin-hui Rao shu-Xu Yi Lian Tao Qing-Wen Tang Department of Physics School of Physics and Materials ScienceNanchang UniversityNanchang 330031China Institute of High energy Physics Chinese Academy of SciencesBeijing 100049China

Theories of modified gravity suggest that the propagation speed of gravitational waves(GW)v_gmay deviate from the speed of light c.A constraint can be placed on the difference between c and v_gwith a simple method that uses the arrival time delay between GW and electromagnetic wave simultaneously emitted from a burst *** simulated the joint observation of GW and short gamma-ray burst signals from binary neutron star merger events in different observation campaigns,involving advanced LIGO(aLIGO)in design sensitivity and einstein Telescope(eT)joint-detected with Fermi/*** a result,the relative precision of constraint on v_gcan reach~10~(-17)(aLIGO)and~10^(-18)(eT),which are one and two orders of magnitude better than that from GW170817,*** continue to obtain the bound of graviton mass m_g≤7.1(3.2)×10~(-20)eV with aLIGO(eT).Applying the Standard-Model extension test framework,the constraint on v_gallows us to study the Lorentz violation in the nondispersive,nonbirefringent limit of the gravitational *** obtain the constraints of the dimensionless isotropic coefficients S_(00)^(4)at mass dimension d=4,which are-1×10^(-15)eT.

关键词： gravitational waves-(stars)gamma-ray burst general-stars neutron

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

Lath-like phases formed at an extremely high temperature in a Mg-Re(Re=rare earth)-Al alloy

引用

Rare Metals 2024年第8期43卷 3937-3945页

作者： Bo Deng shu-hui Lv Qiang Yang Dong-Yue Zhao Jun-Yuan Fan Xin Qiu School of Materials Science and engineering Changchun University of Science and TechnologyChangchun 130022China State Key Laboratory of Rare earth Resource Utilization Changchun Institute of Applied ChemistryChinese Academy of SciencesChangchun 130022China Chongqing Research Institute Changchun University of Science and TechnologyChongqing 401135China

Thermal stable intermetallic particles are important for the heat resistance of magnesium(Mg)*** this work,many lath-like particles formed in α-Mg grains of a Mg-8Gd-3Sm-0.7Al casting alloy when heat-treated at 873 ***-resolution high-angle annular dark field scanning transmission electron microscopy(HAADF-STeM) characterizations indicate that most of them are Mg-containing Al_(2)(Gd,Sm),with the atomic ratio of Mg:Al:(Gd,Sm) being ~1:1:1;a small part of them with relatively wider thickness are long-period stacking ordered(LPSO) phases simultaneously containing both 14H and 18R *** followed common orientation relationships with Mg matrix as those reported in previous *** addition,many Mg laths were observed in the primary blocky Al_(2)(Gd,Sm) phase at grain boundaries,where the atomic ratio of Al:(Gd,Sm) in the Al_(2)(Gd,Sm) matrix was 2:***,density functional theory(DFT) calculations illustrated the detail structure of the re-constructed Mg/Al_(2)Re interface and simultaneously deduced the underlying reason for the re-dissolution of the newly formed Mg-containing Al_(2)(Gd,Sm) plates in α-Mg matrix.

关键词： Magnesium alloy HAADF-STeM Microstructures Intermetallic particles Orientation relationships Interfaces

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

Acupuncture for obesity and related diseases:Insight for regulating neural circuit

引用

Journal of Integrative Medicine 2024年第2期22卷 93-101页

作者： Lin-yan Jiang Jun Tian Ya-nan Yang Shao-hui Jia Qing shu Department of Rehabilitation Medicine Zhongnan HospitalWuhan UniversityWuhan 430071Hubei ProvinceChina School of Sports Medicine Wuhan Sports UniversityWuhan 430079Hubei ProvinceChina Department of Traditional Chinese Medicine China Resources&Wu Gang General HospitalWuhan 430080Hubei ProvinceChina

Obesity is defined as abnormal or excessive fat accumulation that may impair *** is associated with numerous pathological changes including insulin resistance,fatty liver,hyperlipidemias,and other obesity-related *** comorbidities comprise a significant public health *** anti-obesity drugs have been limited by side effects that include depression,suicidal thoughts,cardiovascular complications and *** treatment has been shown to be effective for treating obesity and obesity-related conditions,while avoiding side ***,the mechanisms of acupuncture in treating obesity-related diseases,especially its effect on neural circuits,are not well understood.A growing body of research has studied acupuncture’s effects on the endocrine system and other mechanisms related to the regulation of neural *** this article,recent research that was relevant to the use of acupuncture to treat obesity and obesity-related diseases through the neuroendocrine system,as well as some neural circuits involved,was *** on this,acupuncture’s potential ability to regulate neural circuits and its mechanisms of action in the endocrine system were reviewed,leading to a deeper mechanistic understanding of acupuncture’s effects and providing insight and direction for future research about obesity.

关键词： Obesity Acupuncture Neural circuit Appetite energy metabolism

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

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：