Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月...Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月,因“运动、语言发育迟缓2年余,社交障碍1年余”入院,检查发现患儿存在孤独症谱系障碍、全面发育迟缓、特殊面容、矮小、脑积水等临床表现,基因检测发现患儿携带ADNP基因杂合突变{NM_001282531.3(ADNP):c.2189(exon6)delG[p.(Arg730Glnfs3)]},其父母及妹妹均未携带该突变。总结临床资料并结合文献复习,ADNP基因在染色质重塑和神经发育障碍中发挥重要作用,ADNP基因突变可累及多系统。此例HVDAS具有典型临床表现,并拓宽了脑积水的表型谱,为此类基因变异的遗传咨询以及临床医师的早期识别提供了参考依据。展开更多
As a typical in-memory computing hardware design, nonvolatile ternary content-addressable memories(TCAMs) enable the logic operation and data storage for high throughout in parallel big data processing. However,TCAM c...As a typical in-memory computing hardware design, nonvolatile ternary content-addressable memories(TCAMs) enable the logic operation and data storage for high throughout in parallel big data processing. However,TCAM cells based on conventional silicon-based devices suffer from structural complexity and large footprintlimitations. Here, we demonstrate an ultrafast nonvolatile TCAM cell based on the MoTe2/hBN/multilayergraphene (MLG) van der Waals heterostructure using a top-gated partial floating-gate field-effect transistor(PFGFET) architecture. Based on its ambipolar transport properties, the carrier type in the source/drain andcentral channel regions of the MoTe2 channel can be efficiently tuned by the control gate and top gate, respectively,enabling the reconfigurable operation of the device in either memory or FET mode. When working inthe memory mode, it achieves an ultrafast 60 ns programming/erase speed with a current on-off ratio of ∼105,excellent retention capability, and robust endurance. When serving as a reconfigurable transistor, unipolar p-typeand n-type FETs are obtained by adopting ultrafast 60 ns control-gate voltage pulses with different polarities.The monolithic integration of memory and logic within a single device enables the content-addressable memory(CAM) functionality. Finally, by integrating two PFGFETs in parallel, a TCAM cell with a high current ratioof ∼10^(5) between the match and mismatch states is achieved without requiring additional peripheral circuitry.These results provide a promising route for the design of high-performance TCAM devices for future in-memorycomputing applications.展开更多
In recent years,there has been a surge of interest in higher-order topological phases(HOTPs)across various disciplines within the field of physics.These unique phases are characterized by their ability to harbor topol...In recent years,there has been a surge of interest in higher-order topological phases(HOTPs)across various disciplines within the field of physics.These unique phases are characterized by their ability to harbor topological protected boundary states at lower-dimensional boundaries,a distinguishing feature that sets them apart from conventional topological phases and is attributed to the higher-order bulk-boundary correspondence.Two-dimensional(2D)twisted systems offer an optimal platform for investigating HOTPs,owing to their strong controllability and experimental feasibility.Here,we provide a comprehensive overview of the latest research advancements on HOTPs in 2D twisted multilayer systems.We will mainly review the HOTPs in electronic,magnonic,acoustic,photonic and mechanical twisted systems,and finally provide a perspective of this topic.展开更多
Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育...Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育障碍及孤独症样刻板行为,有行为问题,外貌畸形,视力异常,反复呼吸道感染等临床表现,基因检测发现患儿携带ADNP基因杂合突变c.2157C>A(p.Tyr719Ter),其父母均未携带该突变。因此,提示临床工作者要加强对该疾病的认识,做到早发现、早治疗,以积极干预,从而提高患儿的生活质量。展开更多
本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*...本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*7),为移码突变。Helsmoortel-Van der Aa综合征可累及多系统,基因检测有助于诊断。展开更多
为深入了解Bonhoeffer-van der Pol系统在随机激励下系统动力学行为的演化规律,研究了随机Bonhoeffer-van der Pol系统的稳态响应和随机分岔。借助路径积分方法、高斯闭合方法和蒙特卡洛模拟等,求解了噪声激励下Bonhoeffer-van der Pol...为深入了解Bonhoeffer-van der Pol系统在随机激励下系统动力学行为的演化规律,研究了随机Bonhoeffer-van der Pol系统的稳态响应和随机分岔。借助路径积分方法、高斯闭合方法和蒙特卡洛模拟等,求解了噪声激励下Bonhoeffer-van der Pol系统的平稳解,发现系统参数诱导的随机P-分岔(唯像分岔)现象。通过与蒙特卡洛模拟结果的对比,验证了所述路径积分方法的准确性。展开更多
“Der Wille zur Macht”在尼采哲学中处于核心地位,它是对存在者整体的本质性规定,同时也是理解西方哲学的重要节点和绕不开的研究任务。在批判性继承叔本华“意志”概念的基础上,尼采发展出自己独特的“Der Wille zur Macht”理念,从...“Der Wille zur Macht”在尼采哲学中处于核心地位,它是对存在者整体的本质性规定,同时也是理解西方哲学的重要节点和绕不开的研究任务。在批判性继承叔本华“意志”概念的基础上,尼采发展出自己独特的“Der Wille zur Macht”理念,从词源解析该词可直译为“向力量/权力的意志”。该词的各种历史中文译名诸如从“权力意志”到“强力意志”等的局限性胜于其优点。新的中文译名“趋力意志”为“Der Wille zur Macht”的中文翻译提供了新思路,更为贴近该词的哲学内涵,强调“意志”所具有的趋向“力量/权力”的本质,以及朝向更高和更丰富的、积极的和动态的生命特性;同时也符合翻译的简洁原则;为理解尼采哲学提供了更为清晰的视角。展开更多
Two-dimensional van der Waals ferromagnet Fe_(3)GeTe_(2)(FGT)holds a great potential for applications in spintronic devices due to its high Curie temperature,easy tunability,and excellent structural stability in air.T...Two-dimensional van der Waals ferromagnet Fe_(3)GeTe_(2)(FGT)holds a great potential for applications in spintronic devices due to its high Curie temperature,easy tunability,and excellent structural stability in air.Theoretical studies have shown that pressure,as an external parameter,significantly affects its ferromagnetic properties.In this study,we have performed comprehensive high-pressure neutron powder diffraction(NPD)experiments on FGT up to 5 GPa to investigate the evolution of its structural and magnetic properties with hydrostatic pressure.The NPD data clearly reveal the robustness of the ferromagnetism in FGT,despite of an apparent suppression by hydrostatic pressure.As the pressure increases from 0 to 5 GPa,the Curie temperature is found to decrease monotonically from 225(5)K to 175(5)K,together with a dramatically suppressed ordered moment of Fe,which is well supported by the first-principles calculations.Although no pressure-driven structural phase transition is observed up to 5 GPa,quantitative analysis on the changes of bond lengths and bond angles indicates a significant modification of the exchange interactions,which accounts for the pressure-induced suppression of the ferromagnetism in FGT.展开更多
Self-intercalated van der Waals magnets,characterized by self-intercalating native atoms into van der Waals layered structures with intrinsic magnetism,exhibit a variety of novel physical properties.Here,using first-p...Self-intercalated van der Waals magnets,characterized by self-intercalating native atoms into van der Waals layered structures with intrinsic magnetism,exhibit a variety of novel physical properties.Here,using first-principles calculations and Monte Carlo simulations,we report a self-intercalated van der Waals ferromagnet,Cr_(3)Ge_(2)Te_(6),which has a high Curie temperature of 492 K.We find that Cr_(3)Ge_(2)Te_(6)is nearly half-metallic with a spin polarization reaching up to 90.9%.Due to the ferromagnetism and strong spin-orbit coupling effect in Cr_(3)Ge_(2)Te_(6),a large anomalous Hall conductivity of 138Ω^(-1)·cm^(-1)and 305Ω^(-1)·cm^(-1)can be realized when its magnetization is along its magnetic easy axis and hard axis,respectively.By doping electrons(holes)into Cr_(3)Ge_(2)Te_(6),these anomalous Hall conductivities can be increased up to 318Ω^(-1)·cm^(-1)(648Ω^(-1)·cm^(-1)).Interestingly,a five-layer Cr_(3)Ge_(2)Te_(6)thin film retains room-temperature ferromagnetism with a higher spin polarization and larger anomalous Hall conductivity.Our study demonstrates that Cr_(3)Ge_(2)Te_(6)is a novel room-temperature self-intercalated ferromagnet with high-spin polarization and large anomalous Hall conductivity,offering great opportunities for designing nano-scale electronic devices.展开更多
Recent advances in van der Waals(vdW) ferroelectrics have sparked the development of related heterostructures with non-volatile and field-tunable functionalities. In vdW ferroelectric heterojunctions, the interfacial ...Recent advances in van der Waals(vdW) ferroelectrics have sparked the development of related heterostructures with non-volatile and field-tunable functionalities. In vdW ferroelectric heterojunctions, the interfacial electrical characteristics play a crucial role in determining their performance and functionality. In this study,we explore the interfacial polarization coupling in two-dimensional(2D) ferroelectric heterojunctions by fabricating a graphene/h-BN/CuInP_(2)S_(6)/α-In_(2)Se_(3)/Au ferroelectric field-effect transistor. By varying the gate electric field, the CuInP_(2)S_(6)/α-In_(2)Se_(3) heterojunction displays distinct interfacial polarization coupling states, resulting in significantly different electrical transport behaviors. Under strong gate electric fields, the migration of Cu ions further enhances the interfacial polarization effect, enabling continuous tuning of both the polarization state and carrier concentration in α-In_(2)Se_(3). Our findings offer valuable insights for the development of novel multifunctional devices based on 2D ferroelectric materials.展开更多
Intermetallic Pt-based nanoparticles have displayed excellent activity for the oxygen reduction reaction(ORR)in fuel cells.However,it remains a great challenge to synthesize highly atomically ordered Pt-based nanopart...Intermetallic Pt-based nanoparticles have displayed excellent activity for the oxygen reduction reaction(ORR)in fuel cells.However,it remains a great challenge to synthesize highly atomically ordered Pt-based nanoparticle catalysts because the formation of an atomically ordered structure usually requires high-temperature annealing accompanied by grain sintering.Here we report the direct epitaxial growth of well-aligned,highly atomically ordered Pt3 Fe and PtFe nanoparticles(<5 nm)on single-walled carbon nanotube(SWCNT)bundles films.The long-range periodically symmetric van der Waals(vdW)interac-tions between SWCNT bundles and Pt-Fe nanoparticles play an important role in promoting not only the alignment ordering of inter-nanoparticles but also the atomic ordering of intra-nanoparticles.The ordered Pt_(3)Fe/SWCNT catalyst showed enhanced ORR catalytic performance of 2.3-fold higher mass activity and 3.1-fold higher specific activity than commercial Pt/C.Moreover,the formation of an interlocked inter-face and strong vdW interaction endow the Pt-Fe/SWCNT catalysts with extreme long-term stability in potential cycling and excellent anti-thermal sintering ability.展开更多
The presence of a van Hove singularity(vHS)at the Fermi level can trigger magnetic instability by mediating a spontaneous transition from paramagnetic to magnetically ordered states.While electrostatic doping(typicall...The presence of a van Hove singularity(vHS)at the Fermi level can trigger magnetic instability by mediating a spontaneous transition from paramagnetic to magnetically ordered states.While electrostatic doping(typically achieved via ionic gating)to shift the vHS to the Fermi level provides a general mechanism for engineering such magnetism,its volatile nature often leads to the collapse of induced states upon gate field removal.Here,a novel scheme is presented for non-volatile magnetic control by utilizing ferroelectric heterostructures to achieve reversible magnetism switching.Using two-dimensional VSiN_(3),a nonmagnetic material with Mexican-hat electronic band dispersions hosting vHSs,as a prototype,it is preliminarily demonstrated that both electron and hole doping can robustly induce magnetism.Further,by interfacing VSiN_(3)with ferroelectric Sc_(2)CO_(2),reversible switching of its magnetic state via polarization-driven heterointerfacial charge transfer is achieved.This mechanism enables a dynamic transition between insulating and half-metallic phases in VSiN_(3),establishing a pathway to design multiferroic tunnel junctions with giant tunneling electroresistance or magnetoresistance.This work bridges non-volatile ferroelectric control with vHS-enhanced magnetism,opening opportunities for energy-efficient and high-performance spintronic devices and non-volatile memory devices.展开更多
The exploration of heterostructures composed of two-dimensional(2D)transition metal dichalcogenide(TMDc)materials has garnered significant research attention due to the distinctive properties of each individual compon...The exploration of heterostructures composed of two-dimensional(2D)transition metal dichalcogenide(TMDc)materials has garnered significant research attention due to the distinctive properties of each individual component and their phase-dependent unique properties.Using the plasma-enhanced chemical vapor deposition(PECVD)method,we analyze the fabrication of heterostructures consisting of two phases of molybdenum disulfide(MoS_(2))in four different cases.The initial hydrogen evolution reaction(HER)polarization curve indicates that the activity of the heterostructure MoS_(2)is consistent with that of the underlying MoS_(2),rather than the surface activity of the upper MoS_(2).This behavior can be attributed to the presence of Schottky barriers,which include contact resistance,which significantly hampers the efficient charge transfer at junctions between the two different phases of MoS_(2)layers and is mediated by van der Waals bonds.Remarkably,the energy barrier at the junction dissipates upon reaching a certain electrochemical potential,indicating surface activation from the top phase of MoS_(2)in the heterostructure.Notably,the 1T/2H MoS_(2)heterostructure demonstrates enhanced electrochemical stability compared to its metastable 1T-MoS_(2).This fundamental understanding paves the way for the creation of phase-controllable heterostructures through an experimentally viable PECVD,offering significant promise for a wide range of applications.展开更多
目的:制备粉尘螨变应原第36组分(Der f 36)重组蛋白,鉴定其免疫原性并进行生物信息学分析。方法:获得Der f 36核酸序列并进行人工合成,插入pET-28a(+)载体,制备pET-28a(+)-Der f 36质粒,转化至BL21(DE3)感受态细胞,经诱导表达和纯化后,...目的:制备粉尘螨变应原第36组分(Der f 36)重组蛋白,鉴定其免疫原性并进行生物信息学分析。方法:获得Der f 36核酸序列并进行人工合成,插入pET-28a(+)载体,制备pET-28a(+)-Der f 36质粒,转化至BL21(DE3)感受态细胞,经诱导表达和纯化后,获得重组变应原rDer f 36,SDS-PAGE和Western blot鉴定rDer f 36重组蛋白,IgE-ELISA检测其血清IgE结合率,IgE-ELISA抑制实验检测rDer f 36与rDer p 36的交叉反应性;HNEpC细胞与rDer f 36共孵育24 h后测定细胞因子;生物信息学软件比较Der f 36与Der p 36的理化性质和结构。结果:得到了Der f 36的编码基因,全长690 bp,相对分子质量为25.6 kD;IgE-ELISA鉴定rDer f 36血清IgE结合率为42.1%;IgE-ELISA抑制实验结果显示rDer p 36对rDer f 36的抑制率>50.00%[40.00%(8/20)],平均抑制率为52.98%。HNEpC细胞与rDer f 36共孵育后,IL-6、IL-8、IL-33、IL-25和TSLP表达均高于对照组。生物信息学分析显示Der f 36和Der p 36的序列一致性为77.63%,理化性质较为相似;二级结构分析结果显示二者均含有α螺旋、β转角和无规则卷曲,且无规则卷曲含量最高;C2结构域显示高度重叠(RMSD=0.046)。结论:成功制备了rDer f 36重组蛋白,且具有免疫原性,为粉尘螨变应原单组分诊断及治疗奠定了基础。Der f 36与Der p 36的理化性质、二级结构和三级结构高度相似,决定其具有交叉反应性。展开更多
目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及基因突变检测,明确该家系的致病基因突变位点及该突变对基因编码的影响。方法对收集到的Van der Hoeve综合征家系进行包括病史、体格检查及辅助检查在内...目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及基因突变检测,明确该家系的致病基因突变位点及该突变对基因编码的影响。方法对收集到的Van der Hoeve综合征家系进行包括病史、体格检查及辅助检查在内的临床资料的收集及外周血液样本的采集,并对22位家系成员进行外显子组测序以及Sanger测序,利用生物信息学软件分析数据。结果该家系共五代,各代连续发病,且每一代男女均可患病,符合常染色体显性遗传特点。该家系中12例患者均自出生时巩膜即呈蓝色且身材矮小,8例患者有骨折病史,可正常愈合,3例患者考虑有Van der Hoeve综合征所致的听力下降,12例患者的COL1A1基因第17号外显子有一个碱基的缺失(c.1128delT),使第376位后的氨基酸编码改变,在第539位提前结束氨基酸编码,该家系中10例无症状者无此突变。结论该家系患者确定为由COL1A1基因c.1128delT突变导致的Van der Hoeve综合征。展开更多
目的:尘螨过敏原Der p 7新的IgE抗原表位鉴定及尘螨交叉反应性的研究。方法:ELISA检测华东地区安徽省合肥市的尘螨过敏患者与尘螨过敏临床相关性较高的重组蛋白Der p 7的IgE结合率;通过ELISA和Dot Blot鉴定屋尘螨过敏原Der p 7的新IgE...目的:尘螨过敏原Der p 7新的IgE抗原表位鉴定及尘螨交叉反应性的研究。方法:ELISA检测华东地区安徽省合肥市的尘螨过敏患者与尘螨过敏临床相关性较高的重组蛋白Der p 7的IgE结合率;通过ELISA和Dot Blot鉴定屋尘螨过敏原Der p 7的新IgE抗原表位;利用圆二色光谱法检测Der p 7和其突变体的结构及热稳定性;最后用ELISA和ELISA抑制实验鉴定尘螨新的交叉过敏物质。结果:通过ELISA实验检测发现,华东地区的合肥市内尘螨过敏患者体内IgE与Der p 7的结合率为36.2%,与华南地区的广州市(37.4%)和西班牙(34.7%)相近。然而,这一结合率受到地理区域、自然环境和生活方式等多种因素的影响,与华北地区的北京市(19.3%)、乌克兰(22.67%)、意大利(28%)相比明显较低,而与非洲(56%)和日本(超过60%)相比则显著不同。ELISA和Dot Blot鉴定出尘螨重要过敏原Der p 7的两个新IgE抗原结合表位,分别是第36位天冬氨酸和第100位天冬氨酸。用圆二色光谱实验证明了Der p 7的结构稳定性,且突变后结构未发生改变,并检测了其热稳定性特征。最后用ELISA和ELISA抑制实验新发现了两种与尘螨存在交叉过敏的物质(小麦和花生)。结论:基于尘螨过敏原Der p 7与华东地区安徽省合肥市内过敏患者IgE的结合率及新的IgE抗原表位的研究为预防、诊断、治疗过敏性疾病提供理论基础,对开发尘螨过敏原低敏疫苗具有参考价值。发现新的尘螨交叉过敏物质为交叉过敏反应的预防、治疗提供了科学依据。展开更多
The crossmodal interaction of different senses,which is an important basis for learning and memory in the human brain,is highly desired to be mimicked at the device level for developing neuromorphic crossmodal percept...The crossmodal interaction of different senses,which is an important basis for learning and memory in the human brain,is highly desired to be mimicked at the device level for developing neuromorphic crossmodal perception,but related researches are scarce.Here,we demonstrate an optoelectronic synapse for vision-olfactory crossmodal perception based on MXene/violet phosphorus(VP)van der Waals heterojunctions.Benefiting from the efficient separation and transport of photogenerated carriers facilitated by conductive MXene,the photoelectric responsivity of VP is dramatically enhanced by 7 orders of magnitude,reaching up to 7.7 A W^(−1).Excited by ultraviolet light,multiple synaptic functions,including excitatory postsynaptic currents,pairedpulse facilitation,short/long-term plasticity and“learning-experience”behavior,were demonstrated with a low power consumption.Furthermore,the proposed optoelectronic synapse exhibits distinct synaptic behaviors in different gas environments,enabling it to simulate the interaction of visual and olfactory information for crossmodal perception.This work demonstrates the great potential of VP in optoelectronics and provides a promising platform for applications such as virtual reality and neurorobotics.展开更多
许多过敏原可以介导Ⅰ型超敏反应,通过与IgE特异性结合,引起过敏症状.过敏原与细胞表面的特异性IgE结合的部分叫做表位,其与IgE的结合能力可以表征过敏原致敏性的强弱.Der p 2是一种重要的屋尘螨过敏原,其线性表位中含有的酪氨酸可被空...许多过敏原可以介导Ⅰ型超敏反应,通过与IgE特异性结合,引起过敏症状.过敏原与细胞表面的特异性IgE结合的部分叫做表位,其与IgE的结合能力可以表征过敏原致敏性的强弱.Der p 2是一种重要的屋尘螨过敏原,其线性表位中含有的酪氨酸可被空气中的NO_(2)和O_(3)硝基化,从而影响线性表位与IgE的结合能力.本实验研究了Der p 2的线性表位及其硝基化产物与IgE的结合能力.研究发现,Der p 2的两条表位多肽可以有效地结合IgE,硝基化表位多肽的IgE结合能力显著高于未硝基化的表位多肽,且不同位点的硝基化对于IgE结合能力的增强程度也不同.结果表明,硝基化能够位点特异性地增强Der p 2的致敏性.展开更多
Two-dimension(2D)van der Waals heterojunction holds essential promise in achieving high-performance flexible near-infrared(NIR)photodetector.Here,we report the successful fabrication of ZnSb/Ti_(3)C_(2)T_(x)MXene base...Two-dimension(2D)van der Waals heterojunction holds essential promise in achieving high-performance flexible near-infrared(NIR)photodetector.Here,we report the successful fabrication of ZnSb/Ti_(3)C_(2)T_(x)MXene based flexible NIR photodetector array via a facile photolithography technology.The single ZnSb/Ti_(3)C_(2)T_(x)photodetector exhibited a high light-to-dark current ratio of 4.98,fast response/recovery time(2.5/1.3 s)and excellent stability due to the tight connection between 2D ZnSb nanoplates and 2D Ti_(3)C_(2)T_(x)MXene nanoflakes,and the formed 2D van der Waals heterojunction.Thin polyethylene terephthalate(PET)substrate enables the ZnSb/Ti_(3)C_(2)T_(x)photodetector withstand bending such that stable photoelectrical properties with non-obvious change were maintained over 5000 bending cycles.Moreover,the ZnSb/Ti_(3)C_(2)T_(x)photodetectors were integrated into a 26×5 device array,realizing a NIR image sensing application.展开更多
文摘Helsmoortel-Van der Aa综合征(HVDAS)是一种罕见的神经发育障碍性疾病,主要由活性依赖性神经保护蛋白(ADNP)基因突变引起,是最常见的孤独症谱系障碍(ASD)单基因病因之一。本文分析2024年就诊于海口市妇幼保健院的1例患儿,男,3岁10个月,因“运动、语言发育迟缓2年余,社交障碍1年余”入院,检查发现患儿存在孤独症谱系障碍、全面发育迟缓、特殊面容、矮小、脑积水等临床表现,基因检测发现患儿携带ADNP基因杂合突变{NM_001282531.3(ADNP):c.2189(exon6)delG[p.(Arg730Glnfs3)]},其父母及妹妹均未携带该突变。总结临床资料并结合文献复习,ADNP基因在染色质重塑和神经发育障碍中发挥重要作用,ADNP基因突变可累及多系统。此例HVDAS具有典型临床表现,并拓宽了脑积水的表型谱,为此类基因变异的遗传咨询以及临床医师的早期识别提供了参考依据。
基金supported by the National Key Research&Development Projects of China(Grant No.2022YFA1204100)National Natural Science Foundation of China(Grant No.62488201)+1 种基金CAS Project for Young Scientists in Basic Research(YSBR-003)the Innovation Program of Quantum Science and Technology(2021ZD0302700)。
文摘As a typical in-memory computing hardware design, nonvolatile ternary content-addressable memories(TCAMs) enable the logic operation and data storage for high throughout in parallel big data processing. However,TCAM cells based on conventional silicon-based devices suffer from structural complexity and large footprintlimitations. Here, we demonstrate an ultrafast nonvolatile TCAM cell based on the MoTe2/hBN/multilayergraphene (MLG) van der Waals heterostructure using a top-gated partial floating-gate field-effect transistor(PFGFET) architecture. Based on its ambipolar transport properties, the carrier type in the source/drain andcentral channel regions of the MoTe2 channel can be efficiently tuned by the control gate and top gate, respectively,enabling the reconfigurable operation of the device in either memory or FET mode. When working inthe memory mode, it achieves an ultrafast 60 ns programming/erase speed with a current on-off ratio of ∼105,excellent retention capability, and robust endurance. When serving as a reconfigurable transistor, unipolar p-typeand n-type FETs are obtained by adopting ultrafast 60 ns control-gate voltage pulses with different polarities.The monolithic integration of memory and logic within a single device enables the content-addressable memory(CAM) functionality. Finally, by integrating two PFGFETs in parallel, a TCAM cell with a high current ratioof ∼10^(5) between the match and mismatch states is achieved without requiring additional peripheral circuitry.These results provide a promising route for the design of high-performance TCAM devices for future in-memorycomputing applications.
基金Project supported by the National Natural Science Foundation of China(Grant Nos.12304539,12074108,12474151,12347101)the Natural Science Foundation of Chongqing(Grant No.CSTB2022NSCQ-MSX0568)Beijing National Laboratory for Condensed Matter Physics(Grant No.2024BNLCMPKF025)。
文摘In recent years,there has been a surge of interest in higher-order topological phases(HOTPs)across various disciplines within the field of physics.These unique phases are characterized by their ability to harbor topological protected boundary states at lower-dimensional boundaries,a distinguishing feature that sets them apart from conventional topological phases and is attributed to the higher-order bulk-boundary correspondence.Two-dimensional(2D)twisted systems offer an optimal platform for investigating HOTPs,owing to their strong controllability and experimental feasibility.Here,we provide a comprehensive overview of the latest research advancements on HOTPs in 2D twisted multilayer systems.We will mainly review the HOTPs in electronic,magnonic,acoustic,photonic and mechanical twisted systems,and finally provide a perspective of this topic.
文摘Helsmoortel-Van der Aa综合征(HVDAS),是一种罕见的神经发育障碍疾病,主要由功能活性依赖神经保护蛋白(ADNP)基因突变引起。该文回顾性分析了就诊于济宁医学院附属医院的1例HVDAS患儿,系1岁3个月男性幼儿,其存在运动、语言、智力发育障碍及孤独症样刻板行为,有行为问题,外貌畸形,视力异常,反复呼吸道感染等临床表现,基因检测发现患儿携带ADNP基因杂合突变c.2157C>A(p.Tyr719Ter),其父母均未携带该突变。因此,提示临床工作者要加强对该疾病的认识,做到早发现、早治疗,以积极干预,从而提高患儿的生活质量。
文摘本文报道1例ADNP基因新发杂合变异Helsmoortel-Van der Aa综合征病例。该患儿为1岁6月男童,存在有特殊面容、智力发育低下、运动、语言发育迟缓、小手等临床表现,基因分析显示患儿ADNP基因有一个新发变异位点C.460_461insAA(p.P154Qfs*7),为移码突变。Helsmoortel-Van der Aa综合征可累及多系统,基因检测有助于诊断。
文摘为深入了解Bonhoeffer-van der Pol系统在随机激励下系统动力学行为的演化规律,研究了随机Bonhoeffer-van der Pol系统的稳态响应和随机分岔。借助路径积分方法、高斯闭合方法和蒙特卡洛模拟等,求解了噪声激励下Bonhoeffer-van der Pol系统的平稳解,发现系统参数诱导的随机P-分岔(唯像分岔)现象。通过与蒙特卡洛模拟结果的对比,验证了所述路径积分方法的准确性。
文摘“Der Wille zur Macht”在尼采哲学中处于核心地位,它是对存在者整体的本质性规定,同时也是理解西方哲学的重要节点和绕不开的研究任务。在批判性继承叔本华“意志”概念的基础上,尼采发展出自己独特的“Der Wille zur Macht”理念,从词源解析该词可直译为“向力量/权力的意志”。该词的各种历史中文译名诸如从“权力意志”到“强力意志”等的局限性胜于其优点。新的中文译名“趋力意志”为“Der Wille zur Macht”的中文翻译提供了新思路,更为贴近该词的哲学内涵,强调“意志”所具有的趋向“力量/权力”的本质,以及朝向更高和更丰富的、积极的和动态的生命特性;同时也符合翻译的简洁原则;为理解尼采哲学提供了更为清晰的视角。
基金Project supported by the National Natural Science Foundation of China(Grant No.12074023)the Large Scientific Facility Open Subject of Songshan Lake(Grant No.KFKT2022B05)+1 种基金the Fundamental Research Funds for the Central Universities in ChinaNeutron diffraction experiments at the Materials and Life Science Experimental Facility of the J-PARC were performed through the user program(Proposal No.2023A0185).
文摘Two-dimensional van der Waals ferromagnet Fe_(3)GeTe_(2)(FGT)holds a great potential for applications in spintronic devices due to its high Curie temperature,easy tunability,and excellent structural stability in air.Theoretical studies have shown that pressure,as an external parameter,significantly affects its ferromagnetic properties.In this study,we have performed comprehensive high-pressure neutron powder diffraction(NPD)experiments on FGT up to 5 GPa to investigate the evolution of its structural and magnetic properties with hydrostatic pressure.The NPD data clearly reveal the robustness of the ferromagnetism in FGT,despite of an apparent suppression by hydrostatic pressure.As the pressure increases from 0 to 5 GPa,the Curie temperature is found to decrease monotonically from 225(5)K to 175(5)K,together with a dramatically suppressed ordered moment of Fe,which is well supported by the first-principles calculations.Although no pressure-driven structural phase transition is observed up to 5 GPa,quantitative analysis on the changes of bond lengths and bond angles indicates a significant modification of the exchange interactions,which accounts for the pressure-induced suppression of the ferromagnetism in FGT.
基金Project supported by the National Key R&D Program of China(Grant No.2022YFA1403301)the National Natural Science Foundation of China(Grant Nos.12474247 and 92165204)+1 种基金the Guangdong Provincial Key Laboratory of Magnetoelectric Physics and Devices(Grant No.2022B1212010008)the support from the Fundamental Research Funds for the Central Universities,Sun Yat-Sen University(Grant No.24qnpy108)。
文摘Self-intercalated van der Waals magnets,characterized by self-intercalating native atoms into van der Waals layered structures with intrinsic magnetism,exhibit a variety of novel physical properties.Here,using first-principles calculations and Monte Carlo simulations,we report a self-intercalated van der Waals ferromagnet,Cr_(3)Ge_(2)Te_(6),which has a high Curie temperature of 492 K.We find that Cr_(3)Ge_(2)Te_(6)is nearly half-metallic with a spin polarization reaching up to 90.9%.Due to the ferromagnetism and strong spin-orbit coupling effect in Cr_(3)Ge_(2)Te_(6),a large anomalous Hall conductivity of 138Ω^(-1)·cm^(-1)and 305Ω^(-1)·cm^(-1)can be realized when its magnetization is along its magnetic easy axis and hard axis,respectively.By doping electrons(holes)into Cr_(3)Ge_(2)Te_(6),these anomalous Hall conductivities can be increased up to 318Ω^(-1)·cm^(-1)(648Ω^(-1)·cm^(-1)).Interestingly,a five-layer Cr_(3)Ge_(2)Te_(6)thin film retains room-temperature ferromagnetism with a higher spin polarization and larger anomalous Hall conductivity.Our study demonstrates that Cr_(3)Ge_(2)Te_(6)is a novel room-temperature self-intercalated ferromagnet with high-spin polarization and large anomalous Hall conductivity,offering great opportunities for designing nano-scale electronic devices.
基金supported by the Chinese Academy of Sciences Project for Young Scientists in Basic Research(Grant No.YSBR-049)the Innovation Program for Quantum Science and Technology(Grant No.2021ZD0302800)the Fundamental Research Funds for the Central Universities(Grant No.WK3510000013)。
文摘Recent advances in van der Waals(vdW) ferroelectrics have sparked the development of related heterostructures with non-volatile and field-tunable functionalities. In vdW ferroelectric heterojunctions, the interfacial electrical characteristics play a crucial role in determining their performance and functionality. In this study,we explore the interfacial polarization coupling in two-dimensional(2D) ferroelectric heterojunctions by fabricating a graphene/h-BN/CuInP_(2)S_(6)/α-In_(2)Se_(3)/Au ferroelectric field-effect transistor. By varying the gate electric field, the CuInP_(2)S_(6)/α-In_(2)Se_(3) heterojunction displays distinct interfacial polarization coupling states, resulting in significantly different electrical transport behaviors. Under strong gate electric fields, the migration of Cu ions further enhances the interfacial polarization effect, enabling continuous tuning of both the polarization state and carrier concentration in α-In_(2)Se_(3). Our findings offer valuable insights for the development of novel multifunctional devices based on 2D ferroelectric materials.
基金supported by the National Natural Science Foundation of China(grant Nos.52073290 and 51927803)the Liaoning Province Science and Technology Plan Project(No.2022-MS-011)the Shenyang science and technology plan project(23-407-3-23).
文摘Intermetallic Pt-based nanoparticles have displayed excellent activity for the oxygen reduction reaction(ORR)in fuel cells.However,it remains a great challenge to synthesize highly atomically ordered Pt-based nanoparticle catalysts because the formation of an atomically ordered structure usually requires high-temperature annealing accompanied by grain sintering.Here we report the direct epitaxial growth of well-aligned,highly atomically ordered Pt3 Fe and PtFe nanoparticles(<5 nm)on single-walled carbon nanotube(SWCNT)bundles films.The long-range periodically symmetric van der Waals(vdW)interac-tions between SWCNT bundles and Pt-Fe nanoparticles play an important role in promoting not only the alignment ordering of inter-nanoparticles but also the atomic ordering of intra-nanoparticles.The ordered Pt_(3)Fe/SWCNT catalyst showed enhanced ORR catalytic performance of 2.3-fold higher mass activity and 3.1-fold higher specific activity than commercial Pt/C.Moreover,the formation of an interlocked inter-face and strong vdW interaction endow the Pt-Fe/SWCNT catalysts with extreme long-term stability in potential cycling and excellent anti-thermal sintering ability.
基金supported by the National Natural Science Foundation of China(Grant Nos.62174016,12474047,12204202,and 11974355)the Basic Research Program of Jiangsu(Grant No.BK20220679)+1 种基金the Fund for Shanxi“1331Project”the Research Project Supported by Shanxi Scholarship Council of China.
文摘The presence of a van Hove singularity(vHS)at the Fermi level can trigger magnetic instability by mediating a spontaneous transition from paramagnetic to magnetically ordered states.While electrostatic doping(typically achieved via ionic gating)to shift the vHS to the Fermi level provides a general mechanism for engineering such magnetism,its volatile nature often leads to the collapse of induced states upon gate field removal.Here,a novel scheme is presented for non-volatile magnetic control by utilizing ferroelectric heterostructures to achieve reversible magnetism switching.Using two-dimensional VSiN_(3),a nonmagnetic material with Mexican-hat electronic band dispersions hosting vHSs,as a prototype,it is preliminarily demonstrated that both electron and hole doping can robustly induce magnetism.Further,by interfacing VSiN_(3)with ferroelectric Sc_(2)CO_(2),reversible switching of its magnetic state via polarization-driven heterointerfacial charge transfer is achieved.This mechanism enables a dynamic transition between insulating and half-metallic phases in VSiN_(3),establishing a pathway to design multiferroic tunnel junctions with giant tunneling electroresistance or magnetoresistance.This work bridges non-volatile ferroelectric control with vHS-enhanced magnetism,opening opportunities for energy-efficient and high-performance spintronic devices and non-volatile memory devices.
基金supported by the Basic Science Research Program through the National Research Foundation of Korea(NRF),funded by the Ministry of Education(2022R1A3B1078163 and 2022R1A4A1031182)supported by the KIMM institutional program(NK248E)and NST/KIMM+3 种基金supported by the Technology Innovation Program(or Industrial Strategic Technology Development Program)(20024772),(RS-2023-00264860)funded by the Ministry of Trade,Industry&Energy(MOTIE,Korea)(1415187508)supported by the US Department of Energy,Office of Science,Office of Basic Energy Sciences,under grant no.DE-FG02-87ER13808by Northwestern University.
文摘The exploration of heterostructures composed of two-dimensional(2D)transition metal dichalcogenide(TMDc)materials has garnered significant research attention due to the distinctive properties of each individual component and their phase-dependent unique properties.Using the plasma-enhanced chemical vapor deposition(PECVD)method,we analyze the fabrication of heterostructures consisting of two phases of molybdenum disulfide(MoS_(2))in four different cases.The initial hydrogen evolution reaction(HER)polarization curve indicates that the activity of the heterostructure MoS_(2)is consistent with that of the underlying MoS_(2),rather than the surface activity of the upper MoS_(2).This behavior can be attributed to the presence of Schottky barriers,which include contact resistance,which significantly hampers the efficient charge transfer at junctions between the two different phases of MoS_(2)layers and is mediated by van der Waals bonds.Remarkably,the energy barrier at the junction dissipates upon reaching a certain electrochemical potential,indicating surface activation from the top phase of MoS_(2)in the heterostructure.Notably,the 1T/2H MoS_(2)heterostructure demonstrates enhanced electrochemical stability compared to its metastable 1T-MoS_(2).This fundamental understanding paves the way for the creation of phase-controllable heterostructures through an experimentally viable PECVD,offering significant promise for a wide range of applications.
文摘目的:制备粉尘螨变应原第36组分(Der f 36)重组蛋白,鉴定其免疫原性并进行生物信息学分析。方法:获得Der f 36核酸序列并进行人工合成,插入pET-28a(+)载体,制备pET-28a(+)-Der f 36质粒,转化至BL21(DE3)感受态细胞,经诱导表达和纯化后,获得重组变应原rDer f 36,SDS-PAGE和Western blot鉴定rDer f 36重组蛋白,IgE-ELISA检测其血清IgE结合率,IgE-ELISA抑制实验检测rDer f 36与rDer p 36的交叉反应性;HNEpC细胞与rDer f 36共孵育24 h后测定细胞因子;生物信息学软件比较Der f 36与Der p 36的理化性质和结构。结果:得到了Der f 36的编码基因,全长690 bp,相对分子质量为25.6 kD;IgE-ELISA鉴定rDer f 36血清IgE结合率为42.1%;IgE-ELISA抑制实验结果显示rDer p 36对rDer f 36的抑制率>50.00%[40.00%(8/20)],平均抑制率为52.98%。HNEpC细胞与rDer f 36共孵育后,IL-6、IL-8、IL-33、IL-25和TSLP表达均高于对照组。生物信息学分析显示Der f 36和Der p 36的序列一致性为77.63%,理化性质较为相似;二级结构分析结果显示二者均含有α螺旋、β转角和无规则卷曲,且无规则卷曲含量最高;C2结构域显示高度重叠(RMSD=0.046)。结论:成功制备了rDer f 36重组蛋白,且具有免疫原性,为粉尘螨变应原单组分诊断及治疗奠定了基础。Der f 36与Der p 36的理化性质、二级结构和三级结构高度相似,决定其具有交叉反应性。
文摘目的对一个常染色体显性遗传的Van der Hoeve综合征家系进行详尽的临床表型分析及基因突变检测,明确该家系的致病基因突变位点及该突变对基因编码的影响。方法对收集到的Van der Hoeve综合征家系进行包括病史、体格检查及辅助检查在内的临床资料的收集及外周血液样本的采集,并对22位家系成员进行外显子组测序以及Sanger测序,利用生物信息学软件分析数据。结果该家系共五代,各代连续发病,且每一代男女均可患病,符合常染色体显性遗传特点。该家系中12例患者均自出生时巩膜即呈蓝色且身材矮小,8例患者有骨折病史,可正常愈合,3例患者考虑有Van der Hoeve综合征所致的听力下降,12例患者的COL1A1基因第17号外显子有一个碱基的缺失(c.1128delT),使第376位后的氨基酸编码改变,在第539位提前结束氨基酸编码,该家系中10例无症状者无此突变。结论该家系患者确定为由COL1A1基因c.1128delT突变导致的Van der Hoeve综合征。
文摘目的:尘螨过敏原Der p 7新的IgE抗原表位鉴定及尘螨交叉反应性的研究。方法:ELISA检测华东地区安徽省合肥市的尘螨过敏患者与尘螨过敏临床相关性较高的重组蛋白Der p 7的IgE结合率;通过ELISA和Dot Blot鉴定屋尘螨过敏原Der p 7的新IgE抗原表位;利用圆二色光谱法检测Der p 7和其突变体的结构及热稳定性;最后用ELISA和ELISA抑制实验鉴定尘螨新的交叉过敏物质。结果:通过ELISA实验检测发现,华东地区的合肥市内尘螨过敏患者体内IgE与Der p 7的结合率为36.2%,与华南地区的广州市(37.4%)和西班牙(34.7%)相近。然而,这一结合率受到地理区域、自然环境和生活方式等多种因素的影响,与华北地区的北京市(19.3%)、乌克兰(22.67%)、意大利(28%)相比明显较低,而与非洲(56%)和日本(超过60%)相比则显著不同。ELISA和Dot Blot鉴定出尘螨重要过敏原Der p 7的两个新IgE抗原结合表位,分别是第36位天冬氨酸和第100位天冬氨酸。用圆二色光谱实验证明了Der p 7的结构稳定性,且突变后结构未发生改变,并检测了其热稳定性特征。最后用ELISA和ELISA抑制实验新发现了两种与尘螨存在交叉过敏的物质(小麦和花生)。结论:基于尘螨过敏原Der p 7与华东地区安徽省合肥市内过敏患者IgE的结合率及新的IgE抗原表位的研究为预防、诊断、治疗过敏性疾病提供理论基础,对开发尘螨过敏原低敏疫苗具有参考价值。发现新的尘螨交叉过敏物质为交叉过敏反应的预防、治疗提供了科学依据。
基金supported by National Natural Science Foundation of China(No.51902250).
文摘The crossmodal interaction of different senses,which is an important basis for learning and memory in the human brain,is highly desired to be mimicked at the device level for developing neuromorphic crossmodal perception,but related researches are scarce.Here,we demonstrate an optoelectronic synapse for vision-olfactory crossmodal perception based on MXene/violet phosphorus(VP)van der Waals heterojunctions.Benefiting from the efficient separation and transport of photogenerated carriers facilitated by conductive MXene,the photoelectric responsivity of VP is dramatically enhanced by 7 orders of magnitude,reaching up to 7.7 A W^(−1).Excited by ultraviolet light,multiple synaptic functions,including excitatory postsynaptic currents,pairedpulse facilitation,short/long-term plasticity and“learning-experience”behavior,were demonstrated with a low power consumption.Furthermore,the proposed optoelectronic synapse exhibits distinct synaptic behaviors in different gas environments,enabling it to simulate the interaction of visual and olfactory information for crossmodal perception.This work demonstrates the great potential of VP in optoelectronics and provides a promising platform for applications such as virtual reality and neurorobotics.
文摘许多过敏原可以介导Ⅰ型超敏反应,通过与IgE特异性结合,引起过敏症状.过敏原与细胞表面的特异性IgE结合的部分叫做表位,其与IgE的结合能力可以表征过敏原致敏性的强弱.Der p 2是一种重要的屋尘螨过敏原,其线性表位中含有的酪氨酸可被空气中的NO_(2)和O_(3)硝基化,从而影响线性表位与IgE的结合能力.本实验研究了Der p 2的线性表位及其硝基化产物与IgE的结合能力.研究发现,Der p 2的两条表位多肽可以有效地结合IgE,硝基化表位多肽的IgE结合能力显著高于未硝基化的表位多肽,且不同位点的硝基化对于IgE结合能力的增强程度也不同.结果表明,硝基化能够位点特异性地增强Der p 2的致敏性.
基金supported by National Natural Science Foundation of China(51672308,51972025,61888102,and 62004187).
文摘Two-dimension(2D)van der Waals heterojunction holds essential promise in achieving high-performance flexible near-infrared(NIR)photodetector.Here,we report the successful fabrication of ZnSb/Ti_(3)C_(2)T_(x)MXene based flexible NIR photodetector array via a facile photolithography technology.The single ZnSb/Ti_(3)C_(2)T_(x)photodetector exhibited a high light-to-dark current ratio of 4.98,fast response/recovery time(2.5/1.3 s)and excellent stability due to the tight connection between 2D ZnSb nanoplates and 2D Ti_(3)C_(2)T_(x)MXene nanoflakes,and the formed 2D van der Waals heterojunction.Thin polyethylene terephthalate(PET)substrate enables the ZnSb/Ti_(3)C_(2)T_(x)photodetector withstand bending such that stable photoelectrical properties with non-obvious change were maintained over 5000 bending cycles.Moreover,the ZnSb/Ti_(3)C_(2)T_(x)photodetectors were integrated into a 26×5 device array,realizing a NIR image sensing application.
