期刊文献+
共找到5篇文章
< 1 >
每页显示 20 50 100
赖氨酸乙酰转移酶6A(KAT6A)基因突变致Arboleda-Tham综合征13例病例系列报告并文献复习
1
作者 张曦 刘恋 +3 位作者 吴冰冰 李慧萍 王素娟 王慧君 《中国循证儿科杂志》 北大核心 2025年第1期48-52,共5页
背景国际上已陆续报道100多例KAT6A基因突变致Arboleda-Tham综合征(ARTHS)病例。目的 总结KAT6A基因突变致ARTHS的临床与遗传特征。设计病例系列报告。方法 纳入2018年4月至2024年4月复旦大学附属儿科医院分子医学中心经高通量测序发现... 背景国际上已陆续报道100多例KAT6A基因突变致Arboleda-Tham综合征(ARTHS)病例。目的 总结KAT6A基因突变致ARTHS的临床与遗传特征。设计病例系列报告。方法 纳入2018年4月至2024年4月复旦大学附属儿科医院分子医学中心经高通量测序发现的KAT6A基因致病变异的患儿,收集其临床信息和基因检测结果;以KAT6A、Arboleda-Tham Syndrome为关键词检索PubMed、中国知网和万方数据库,检索从2015年1月至2024年6月具有临床资料和基因变异分析的病例报道。主要结局指标KAT6A基因突变致病患儿的基因型与表型特征。结果 本研究纳入13例病例,男10例,女3例。除1例为新生儿外,其余12例均存在神经发育障碍,1岁以上患儿均有语言发育迟缓。基因检测年龄从生后5 d至7岁8月龄,检测到13例患儿分别携带KAT6A基因的杂合致病变异,包括6个移码、4个无义、2个错义和1个拷贝数缺失变异;其中,除G1549S和R1019*已报道外,其余11个变异位点均为未见报道的新变异。总结本文和已报道的114例临床和基因变异信息齐全的病例,发现113例患儿均表现为发育迟缓/智力障碍和语言发育迟缓,64.6%(73/113)肌张力异常,12.4%(14/113)出现癫痫,6.2%(8/113)出现血液系统异常。基因变异类型以截短变异(包括无义和移码变异)为主,占86%(98/114),其中R1129*(12例)和R1024*(9例)为热点致病变异位点;对114例患儿进行基因型与表型关系分析,发现癫痫在错义变异组(3/13,23.1%)的比例高于截短变异组(11/98,11.3%);而血液系统异常病例仅见于截短变异组。结论 KAT6A基因突变致ARTHS患儿以发育迟缓、肌张力异常、癫痫和血液系统异常为主要表型,基因变异类型以截短变异为主。 展开更多
关键词 KAT6A Arboleda-Tham综合征 arths 基因突变
暂未订购
Enhancement of coercivity,permeability,and dielectric properties of Co_(0.2)Zn_(0.3)Ni_(0.5)Eu_(x)Fe_(2-x)O_(4) ferrites for memory and high frequency devices 被引量:2
2
作者 I.Sardar M.D.Hossain +2 位作者 M.S.Sikder M.N.I.Khan M.R.Rahman 《Journal of Rare Earths》 SCIE EI CAS CSCD 2024年第6期1128-1135,I0005,共9页
Spinel cubic ferrites have huge applications in me mory and high frequency devices.For the improvement of these modern devices,the magnetic coercivity,permeability,and dielectric properties of a ferrite are the import... Spinel cubic ferrites have huge applications in me mory and high frequency devices.For the improvement of these modern devices,the magnetic coercivity,permeability,and dielectric properties of a ferrite are the important issues.This article focuses on improving the magnetic coercivity,magnetic permeability,and dielectric properties of Co_(0.2)Zn_(0.3)Ni_(0.5)Eu_(x)Fe_(2-x)O_(4) ferrites,where x=0.00,0.06,and 0.10.The X-ray diffraction(XRD),Fourier transform infrared spectroscopy(FTIR),field emission scanning electron microscopy(FESEM),energy dispersive X-ray(EDX),vibrating sample magnetometer(VSM),and an impedance analyzer were used to characterize the structural,magnetic,and dielectric properties of the samples.The XRD patterns indicate the formation of spinel cubic structure of the samples with a secondary peak(EuFeO_(3))for Eu doped samples.The densities and porosities of the samples follow an inverse trend,where the doped samples’lattice parameters are increased with the increment of rare earth Eu concentration.The FTIR analysis also proves the spinel cubic phase of the samples.The average grain size of the ferrites is obtained via FESEM images,and it is increased from 121 to 198 nm.VSM analysis confirms that doping of the Eu content also changes other hysteresis loop properties of Co_(0.2)Zn_(0.3)Ni_(0.5)Eu_(x)Fe_(2-x)O_(4) ferrites.Particularly,the coercivity of the Eu doped samples is greater than that of the mother alloy(x=0.00).The EDX study shows that there is no impurity contamination in the ferrites.The permeability and dielectric measurements show an improved quality factor of the Eu-doped samples with low magnetic and dielectric losses.Frequency dependent resistivity and impedance analysis also show the improved nature.From the observed properties of the samples,all the investigated ferrites might be strong candidates for potential applications in memory devices,magnetic sensors,and high frequency applications. 展开更多
关键词 Ferrites Raree arths COERCIVITY PERMEABILITY EDX RESISTIVITY
原文传递
Mass transfer in heap leaching of weathered crust elution deposited rare earth ore with Al_(2)(SO_(4))_(3) solution 被引量:1
3
作者 Jingqun Yin Dedong Zeng +1 位作者 Jun Tian Yaqing Weng 《Journal of Rare Earths》 SCIE EI CAS CSCD 2024年第6期1175-1181,I0007,共8页
In order to increase efficiency and avoid NH^(4+)-N pollution in the leaching process of weathered crust elution-deposited rare earth ores,the mass transfer in heap leaching with Al_(2)(SO_(4))_(3) solution was simula... In order to increase efficiency and avoid NH^(4+)-N pollution in the leaching process of weathered crust elution-deposited rare earth ores,the mass transfer in heap leaching with Al_(2)(SO_(4))_(3) solution was simulated with column elution and experimentally optimized.The results indicate that the leaching yield is also up to 99%for leaching with aluminum sulfate instead of ammonium sulfate.The optimal flow rate is 60 mL/h,the height equivalent to a theoretical plate(HETP)is 1.29 mm correspondingly.The peak value position of RE^(3+)is 60 mL/h,Fe^(3+)is 100 mL/h,however,Al^(3+)is 150 mL/h,and the heap leaching process has kinetic separation effect. 展开更多
关键词 Raree arths Mass transfer Process optimization Heapleaching Weathered crust elution-deposited rare earth ore
原文传递
Y^(3+) substituting-adjusted mechanical,dielectric,and impedance properties of cobalt copper zinc nanoferrites for high frequency applications 被引量:1
4
作者 S.F.Mansour N.S.Al-Bassami +1 位作者 M.Afifi M.A.Abdo 《Journal of Rare Earths》 SCIE EI CAS CSCD 2023年第10期1597-1605,I0005,共10页
Upgrading mechanical-dielectric features of ferrites through rare-earth yttrium(Y^(3+))doping provides feasibility to evolving high-frequency electronic devices.This paper reports the mechanical and dielectric propert... Upgrading mechanical-dielectric features of ferrites through rare-earth yttrium(Y^(3+))doping provides feasibility to evolving high-frequency electronic devices.This paper reports the mechanical and dielectric properties of Co_(0.5)Cu_(0.25)Zn_(0.25)Y_(x)Fe_(2-x)O_(4)ferrite nanoparticles labeled as CCZYF#0,CCZYF#1,CCZYF#2,CCZYF#3,CCZYF#4 and CCZYF#5 for x=0.0.0.02,0.04,0.06,0.08,and 0.1,respectively.The frequency and temperature dependence of dielectric parameters and co nductivity of all CCZYF nanoferrites are well discussed.The nanoferrite CCZYF#5 has the highest dielectric constant(enhancing ratio 170%)and the highest conductivity(enhancing ratio 7125.81%)compared with the undoped sample.Nyquist plots of all CCZYF nano ferrites manifest two arcs;the main reasons for the dielectric process are the grain boundaries and bulk grains.All impedance parameters were determined,which showed the effective role of Y^(3+)ions on their values.The nanoferrite CCZYF#5 has the highest grain boundaries capacitance(with enhancing ratio of 59.40%)and the highest grains capacitance(with enhancing ratio of 22.53%)with a relaxation time decrement efficiency of 62.51%.An ultrasonic flaw detector was utilized to determine the elastic moduli of all CCZYF nanoferrites.The nanoferrite CCZYF#5 has the highest longitudinal modulus(with enhancing ratio of 20.95%),the highest shear modulus(with enhancing ratio of48.72%),highest Young's modulus(with enhancing ratio of 88.47%),the highest bulk modulus(with enhancing ratio 13.27%)and the highest micro hardness(with enhancing ratio 77.77%).Hence,Y3+tuned Co-Cu-Zn nanoferrites possess new opportunities for high-frequency and storage applications. 展开更多
关键词 NANOFERRITES Rare arth ions Mechanical properties Dielectric parameters Impedance spectroscopy
原文传递
XMPP的安全机制分析 被引量:7
5
作者 苗凯 《通信技术》 2003年第8期101-103,105,共4页
介绍了用于即时通信的标准协议XMPP(可扩展的消息传递和在场协议)中的安全机制,对其中关键的认证和加密技术进行分析讨论,同时对XMPP协议进行了简单的描述,给出XMPP应用中要考虑的安全问题。
关键词 XML XMPP SASL TLS arths 认证 加密
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部