COL1A1突变致Van der Hoeve综合征家系的遗传和表型分析并文献复习

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。

扩散张量成像定量联合改良Van Assche评分对肛瘘活动性的诊断价值

目的探讨扩散张量成像(DTI)定量联合改良Van Assche评分对肛瘘活动性的诊断价值。方法回顾性分析本院90例肛瘘患者临床、MR资料,分为活动性炎症(PIA)组和非活动性炎症(NIA)组,进行改良Van Assche评分。利用DTI测定主瘘管的各向异性分数(FA)值和表观扩散系数(ADC)值,比较两组改良Van Assche评分、瘘管FA值、ADC值是否存在差异,采用受试者工作特征(ROC)曲线,计算曲线下面积(AUC),利用DeLong检验,分析并比较Van Assche评分、DTI参数(FA值和ADC值)及联合评估对肛瘘活动性的诊断效能。结果PIA组瘘管FA值(0.178±0.018)、ADC值[(0.948±0.138)×10^(-3)mm^(2)/s]小于NIA组[(0.201±0.326)、(1.106±0.086)×10^(-3)mm^(2)/s],PIA组改良Van Assche评分(22.83±3.428)大于NIA组(17.95±3.374)。DTI、改良Van Assche评分及联合评估对肛瘘活动性均具备较高的诊断效能(AUC=0.826、0.798、0.851),其中联合评估诊断效能最优(P<0.05)。DeLong检验示联合评估AUC高于改良Van Assche评分,具有统计学差异(P<0.05),而联合评估与DTI、DTI与改良Van Assche评分的AUC比较无统计学差异(P>0.05)。结论DTI、改良Van Assche评分及联合评估均能有效诊断肛瘘活动性,联合评估能进一步提高肛瘘活动性的诊断效能,而DTI诊断效能与之相当。

Optoelectronic Synapses Based on MXene/Violet Phosphorus van der Waals Heterojunctions for Visual‑Olfactory Crossmodal Perception

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.

ZnSb/Ti_(3)C_(2)T_(x)MXene van der Waals heterojunction for flexible near-infrared photodetector arrays

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.

Low-Cost and Biodegradable Thermoelectric Devices Based on van der Waals Semiconductors on Paper Substrates

We present a method to fabricate handcrafted thermoelectric devices on standard office paper substrates.The devices are based on thin films of WS_(2),Te,and BP(P-type semiconductors)and TiS_(3)and TiS_(2)(N-type semiconductors),deposited by simply rubbing powder of these materials against paper.The thermoelectric properties of these semiconducting films revealed maximum Seebeck coefficients of(+1.32±0.27)mV K^(-1)and(-0.82±0.15)mV K^(-1)for WS_(2)and TiS_(3),respectively.Additionally,Peltier elements were fabricated by interconnecting the P-and N-type films with graphite electrodes.A thermopower value up to 6.11 mV K^(-1)was obtained when the Peltier element were constructed with three junctions.The findings of this work show proof-of-concept devices to illustrate the potential application of semiconducting van der Waals materials in future thermoelectric power generation as well as temperature sensing for low-cost disposable electronic devices.

实现卓越综合临床诊治,赋能未来检验医学——走近“UNIVANTS卓越医疗奖”

UNIVANTS卓越医疗奖(UNIVANTS of healthcare excellence)是一项享有盛名的全球性奖项,UNIVANTS卓越医疗奖是由雅培(Abbott)发起,联合全球领先的医疗保健组织[国际临床化学与检验医学联合会(International Federation of Clinical Chemistry and Laboratory Medicine,IFCC)、美国临床化学协会(American Association for Clinical Chemistry,AACC,现称ADLM)、欧洲健康管理学会(European Health Management Association,EHMA)。

Rational design of vitamin C/defective carbon van der Waals heterostructure for enhanced activity,durability and storage stability toward oxygen reduction reaction

Metal-free defective carbon materials with abundant active sites have been widely studied as low-cost and efficient oxygen reduction reaction(ORR)electrocatalysts in metal-air batteries.However,the active sites in defective carbon are easily subjected to serious oxidation or hydroxylation during ORR or storage,leading to rapid degradation of activity.Herein,we design a van der Waals heterostructure comprised of vitamin C(VC)and defective carbon(DC)to not only boost the activity but also enhance the durability and storage stability of the DC-VC electrocatalyst.The formation of VC van der Waals between DC and VC is demonstrated to be an effective strategy to protect the defect active sites from oxidation and hydroxylation degradation,thus significantly enhancing the electrochemical durability and storage anti-aging performance.Moreover,the DC-VC van der Waals can reduce the reaction energy barrier to facilitate the ORR.These findings are also confirmed by operando Fourier transform infrared spectroscopy and density functional theory calculations.It is necessary to mention that the preparation of this DC-VC electrocatalyst can be scaled up,and the ORR performance of the largely produced electrocatalyst is demonstrated to be very consistent.Furthermore,the DC-VC-based aluminum-air batteries display very competitive power density with good performance maintenance.

Phonon resonance modulation in weak van der Waals heterostructures:Controlling thermal transport in graphene-silicon nanoparticle systems

The drive for efficient thermal management has intensified with the miniaturization of electronic devices.This study explores the modulation of phonon transport within graphene by introducing silicon nanoparticles influenced by van der Waals forces.Our approach involves the application of non-equilibrium molecular dynamics to assess thermal conductivity while varying the interaction strength,leading to a noteworthy reduction in thermal conductivity.Furthermore,we observe a distinct attenuation in length-dependent behavior within the graphene-nanoparticles system.Our exploration combines wave packet simulations with phonon transmission calculations,aligning with a comprehensive analysis of the phonon transport regime to unveil the underlying physical mechanisms at play.Lastly,we conduct transient molecular dynamics simulations to investigate interfacial thermal conductance between the nanoparticles and the graphene,revealing an enhanced thermal boundary conductance.This research not only contributes to our understanding of phonon transport but also opens a new degree of freedom for utilizing van der Waals nanoparticle-induced resonance,offering promising avenues for the modulation of thermal properties in advanced materials and enhancing their performance in various technological applications.

Van Earthquake’s Effects on Mud-Brick Houses in Van and the Last Survived Buildings

The city of Van is located to the Eastern Region of Turkey and has experienced two large earthquakes recently. Van earthquakes have caused big damages and demolitions in the city center, districts and in villages. As a result of precautions works have been realized to remove its effects shortly. However, it can be seen that the either urban or rural areas of the city carry the earthquake’s traces. Damages that the eartquake left on the buildings formed the most apparent and standing ones of the traces. Mud-brick buildings are the primary of those damaged buildings both in the centre of Van and in villages. Especially roofs’ collapsing and then walls’ demolition for mud-brick houses which were abandoned, and therefore were not maintained properly for a long time, are quite familiar situations after the earthquake. However, inhabited and maintained houses have been survived sturdily by contrast of other houses with modern materials and they helpt life to continue after the earthquake. In this study, mud-brick houses which were survived after earthquakes in Van and in the villages will be discussed. Reasons for demolition of those demolished and the qualities of those surviving ones will be scrutinized. It is going to be discussed how the mud-brick material which is distinguishing and struggling to gain it deserves as an ecological material today to resist against natural disasters sturdily when it is applied in decent way in scope with examples in the city of Van. Purpose of this study is to document right and wrong usage of the mud-brick materials with examples.

实现卓越综合临床诊治,赋能未来检验医学——走近“UNIVANTS卓越医疗奖”

UNIVANTS卓越医疗奖(UNIVANTS of healthcare excellence)是一项享有盛名的全球性奖项,UNIVANTS卓越医疗奖是由雅培(Abbott)发起,联合全球领先的医疗保健组织[国际临床化学与检验医学联合会(International Federation of Clinical Chemistry and Laboratory Medicine,IFCC)、美国临床化学协会(American Association for Clinical Chemistry,AACC,现称ADLM)、欧洲健康管理学会(European Health Management Association,EHMA)、现代医疗(Modern Healthcare)、医疗卫生信息与管理系统协会(Healthcare Information and Management Systems Society,HIMSS)、国家医疗质量委员会(National Academy for Healthcare Quality,NAHQ)、卫生经济学研究所(Institute of Health Economics,IHS)]共同评选并颁发的重磅奖项,旨在奖励通过多学科合作,整合临床护理。

Mass-spring model for elastic wave propagation in multilayered van der Waals metamaterials

Multilayered van der Waals(vdW)materials have attracted increasing interest because of the manipulability of their superior optical,electrical,thermal,and mechanical properties.A mass-spring model(MSM)for elastic wave propagation in multilayered vdW metamaterials is reported in this paper.Molecular dynamics(MD)simulations are adopted to simulate the propagation of elastic waves in multilayered vdW metamaterials.The results show that the graphene/MoS_(2)metamaterials have an elastic wave bandgap in the terahertz range.The MSM for the multilayered vdW metamaterials is proposed,and the numerical simulation results show that this model can well describe the dispersion and transmission characteristics of the multilayered vdW metamaterials.The MSM can predict elastic wave transmission characteristics in multilayered vdW metamaterials stacked with different two-dimensional(2D)materials.The results presented in this paper offer theoretical help for the vibration reduction of multilayered vdW semiconductors.

实现卓越综合临床诊治,赋能未来检验医学——走近“UNIVANTS卓越医疗奖”

UNIVANTS卓越医疗奖(UNIVANTS of healthcare excellence)是一项享有盛名的全球性奖项,UNIVANTS卓越医疗奖是由雅培(Abbott)发起,联合全球领先的医疗保健组织国际临床化学与检验医学联合会(International Federation of Clinical Chemistry and Laboratory Medicine,IFCC)、美国临床化学协会(American Association for Clinical Chemistry,AACC,现称ADLM)、欧洲健康管理学会(European Health Management Association,EHMA)、现代医疗(Modern Healthcare)、医疗卫生信息与管理系统协会(Healthcare Information and Management Systems Society,HIMSS)、国家医疗质量委员会(NationalAcademy for Healthcare Quality,NAHQ).

基于新旧侧碰法规的某电动VAN车耐撞性研究

根据新侧碰法规修订版适用车型范围,目前法规范围外的VAN车也需要对其侧碰进行提前应对与研究。针对某款试验对标VAN车,进行了新旧侧碰法规的仿真分析,对B柱、车门的侵入量及侵入速度进行了提取对比,并针对新侧碰法规对车身侧碰薄弱区域进行了结构优化设计,提升了本VAN车的侧面碰撞耐撞性能。

漫游饼干王国 阿姆斯特丹Van Stapele饼干店

自2013年以来,饼干店Van Stapele一直在制作阿姆斯特丹最好的饼干,其令人无法抗拒的美味,每天都吸引着大批顾客排队。因此,饼干店决定从一条古色古香的小巷,过渡到一个更大、更中心的位置,当地设计公司Studio Modijefsky则负责确保Van Stapele的魅力在扩张过程中不会消失。设计团队选择了乳白色和各种深浅不一的棕色,与标志性的饼干颜色相呼应。古铜色和暖木色的点缀增强了空间的永恒魅力,确保新空间与品牌的历史和手工特色产生共鸣。

内河航运如何实现绿色和智能转型——访荷兰可持续运输和物流专家组内河航运资深专家Richard Van Liere先生

当前,在全球航运业积极推进可持续发展的大趋势下,内河航运也在加快绿色和智能转型的步伐。在内河航运发达的欧洲,正在开展一系列清洁能源和智能技术应用项目来打造更高质量的内河水运业。2023年10月,荷兰可持续运输和物流专家组(Netherlands Expert Group for Sustainable TRAnsport and Logistics, NESTRA)的内河航运资深专家Richard Van Liere通过视频演讲在中国青岛举行的首届世界航海科学技术大会上分享了欧洲推动内河航运可持续发展的实践和经验。

Helsmoortel-Van der Aa综合征的临床诊断和文献复习

目的:总结1例由ADNP基因变异所致的Helsmoortel-Van der Aa综合征(HVDAS)的临床表现及遗传学特点,并进行国内外相关文献复习。方法:对2020年8月于中山大学孙逸仙纪念医院儿科神经专科确诊的1例HVDAS患儿的临床表现、生化检查及基因检测等临床资料进行回顾性分析。同时检索国内外数据库中有关ADNP基因变异所致的HVDAS患儿的文献。结果:本例患儿,男,5岁10个月,因“运动、语言发育迟缓5年余,社交障碍2年余”入院。患儿表现为智力障碍、孤独症谱系、发育迟缓、特殊面容、睾丸鞘膜积液、隐睾及睾丸微石症等。基因检测发现该患儿携带一个ADNP杂合致病突变,即ADNP(NM_015339.3)Exon3:c.56_57del TG:p.(Val19fs)基因突变,父母均未发现该基因突变。文献检索到102例患儿(包含本例患儿),平均年龄6.3岁,男女比例为3:2。相关文献报道所有患儿都有轻到重度智力障碍、严重的语言和运动发育迟缓。孤独症谱系障碍、特征性的面部外观也很常见。结论:HVDAS是一种罕见常染色体显性的神经发育障碍性疾病,临床上对于发育迟缓、孤独症谱系障碍、特殊面容的患儿,应考虑到HVDAS的可能性,应及早进行基因检测,基因检测发现ADNP基因变异可明确诊断。

van der Linden评分和营养风险筛查2002评分与脊柱转移瘤患者预后的关系研究

目的探讨van der Linden评分和营养风险筛查2002(NRS 2002)评分与脊柱转移瘤患者预后的关系。方法回顾性分析2010年1月—2020年12月宜宾市第一人民医院骨科收治的脊柱转移瘤住院患者127例的临床资料,随访时间截至2022年6月30日。采用Kaplan-Meier法绘制生存曲线,Log-rankχ2检验和Cox回归分析探讨van der Linden评分和NRS 2002评分与患者预后的关系。结果平均随访时间11.7个月,中位生存时间为10个月,随访期内病死率76.38%,6个月和12个月生存率分别为69.29%和27.56%。van der Linden评分0~3分、4~5分和6分的患者生存时间分别为(7.50±2.86)、(15.45±4.49)和(19.00±6.40)个月,12个月生存率分别为3.75%、65.00%和85.71%;NRS 2002评分<3分和≥3分的患者12个月生存率分别为34.21%和17.65%。Cox回归分析显示,van der Linden评分和NRS 2002评分是脊柱转移瘤预后的影响因素。以van der Linden评分为6分的HR(95%CI)为参照,van der Linden评分0~3分和4~5分的HR(95%CI)分别为6.915(2.048~23.363)和1.715(1.068~2.757);以NRS 2002评分<3分的HR(95%CI)为参照,NRS 2002评分≥3分的HR(95%CI)为1.838(1.186~2.850)。结论脊柱转移瘤患者整体预后差,van der Linden评分和NRS 2002评分与患者预后有一定相关性。

分数阶van der Pol-Mathieu方程的动力学分析

以含分数阶微分项的van der Pol-Mathieu方程为对象,研究了谐波激励作用下主共振的动力学行为和稳定性。采用平均法得到了方程近似解析解,通过数值方法验证了解析结果的准确性。建立了系统稳态响应的幅频方程,利用Lyapunov第一方法得到定常解的稳定条件,确定解的稳定性。在此基础上,分析了参激项、自激项以及分数阶微分项参数对系统幅频特性的影响。结果表明:改变参激项系数主要影响系统的响应幅值和共振频率范围;改变自激项系数主要影响系统响应幅值和多值性;改变分数阶微分项系数和阶次对系统的动力学行为具有双重调节的作用。

Metal-Free 2D/2D van der Waals Heterojunction Based on Covalent Organic Frameworks for Highly Efficient Solar Energy Catalysis

Covalent organic frameworks(COFs)have emerged as a kind of rising star materials in photocatalysis.However,their photocatalytic activities are restricted by the high photogenerated electron-hole pairs recombination rate.Herein,a novel metal-free 2D/2D van der Waals heterojunction,composed of a two-dimensional(2D)COF with ketoenamine linkage(TpPa-1-COF)and 2D defective hexagonal boron nitride(h-BN),is successfully constructed through in situ solvothermal method.Benefitting from the presence of VDW heterojunction,larger contact area and intimate electronic coupling can be formed between the interface of TpPa-1-COF and defective h-BN,which make contributions to promoting charge car-riers separation.The introduced defects can also endow the h-BN with porous structure,thus providing more reactive sites.Moreover,the TpPa-1-COF will undergo a structural transformation after being integrated with defective h-BN,which can enlarge the gap between the conduction band position of the h-BN and TpPa-1-COF,and suppress electron backflow,corroborated by experimental and density functional theory calculations results.Accordingly,the resulting porous h-BN/TpPa-1-COF metal-free VDW heterojunction displays out-standing solar energy catalytic activity for water splitting without co-catalysts,and the H_(2) evolution rate can reach up to 3.15 mmol g^(−1) h^(−1),which is about 67 times greater than that of pristine TpPa-1-COF,also surpassing that of state-of-the-art metal-free-based photocatalysts reported to date.In particular,it is the first work for constructing COFs-based heterojunctions with the help of h-BN,which may provide new avenue for designing highly efficient metal-free-based photocatalysts for H_(2) evolution.

Fabrication and applications of van der Waals heterostructures

Van der Waals heterostructures(vdWHs) are showing considerable potential in both fundamental exploration and practical applications. Built upon the synthetic successes of(two-dimensional) 2D materials, several synthetic strategies of vdWHs have been developed,allowing the convenient fabrication of diverse vdWHs with decent controllability, quality, and scalability. This review first summarizes the current state of the art in synthetic strategies of vdWHs, including physical combination, deposition, solvothermal synthesis, and synchronous evolution. Then three major applications and their representative vdWH devices have been reviewed, including electronics(tunneling field effect transistors and 2D contact),optoelectronics(photodetector), and energy conversion(electrocatalysts and metal ion batteries), to unveil the potentials of vdWHs in practical applications and provide the general design principles of functional vdWHs for different applications. Besides, moiré superlattices based on vdWHs are discussed to showcase the importance of vdWHs as a platform for novel condensed matter physics. Finally, the crucial challenges towards ideal vdWHs with high performance are discussed, and the outlook for future development is presented. By the systematical integration of synthetic strategies and applications, we hope this review can further light up the rational designs of vdWHs for emerging applications.