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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
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作者 聂泽群 贺楚峰 +6 位作者 吴宏 凌捷 付秦辉 庞博 张帅 陈永嘉 梅凌云 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2024年第5期389-393,共5页
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
关键词 Van der Hoeve综合征 成骨不全 COL1A1基因 基因突变
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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
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作者 王璇 程露露 +5 位作者 胡婧 马克龙 孙安源 金腾川 陈凤 徐杨书函 《海南医学院学报》 CAS 北大核心 2024年第22期1697-1707,共11页
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
关键词 尘螨过敏 der p 7 IgE结合率 IgE抗原表位 交叉过敏
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尘螨过敏原Der p 2线性表位肽及其硝基化产物与IgE结合能力
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作者 李志琪 杨方星 《环境化学》 CAS CSCD 北大核心 2024年第8期2640-2645,共6页
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
关键词 der P 2 线性表位 硝基化 位点特异性 IGE 致敏性.
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Optoelectronic Synapses Based on MXene/Violet Phosphorus van der Waals Heterojunctions for Visual‑Olfactory Crossmodal Perception 被引量:1
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作者 Hailong Ma Huajing Fang +3 位作者 Xinxing Xie Yanming Liu He Tian Yang Chai 《Nano-Micro Letters》 SCIE EI CAS CSCD 2024年第6期38-52,共15页
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
关键词 Violet phosphorus MXene Van der Waals heterojunctions Optoelectronic synapses Crossmodal perception
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High-Quality van der Waals Epitaxial CsPbBr_(3)Film Grown on Monolayer Graphene Covered TiO_(2)for High-Performance Solar Cells 被引量:1
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作者 Zhaorui Wen Chao Liang +9 位作者 Shengwen Li Gang Wang Bingchen He Hao Gu Junpeng Xie Hui Pan Zhenhuang Su Xingyu Gao Guo Hong Shi Chen 《Energy & Environmental Materials》 SCIE EI CAS CSCD 2024年第4期239-246,共8页
Two-dimensional materials have been widely used to tune the growth and energy-level alignment of perovskites.However,their incomplete passivation and chaotic usage amounts are not conducive to the preparation of highq... Two-dimensional materials have been widely used to tune the growth and energy-level alignment of perovskites.However,their incomplete passivation and chaotic usage amounts are not conducive to the preparation of highquality perovskite films.Herein,we succeeded in obtaining higher-quality CsPbBr_(3)films by introducing large-area monolayer graphene as a stable physical overlay on top of TiO_(2)substrates.Benefiting from the inert and atomic smooth graphene surface,the CsPbBr_(3)film grown on top by the van der Waal epitaxy has higher crystallinity,improved(100)orientation,and an average domain size of up to 1.22μm.Meanwhile,a strong downward band bending is observed at the graphene/perovskite interface,improving the electron extraction to the electron transport layers(ETL).As a result,perovskite film grown on graphene has lower photoluminescence(PL)intensity,shorter carrier lifetime,and fewer defects.Finally,a photovoltaic device based on epitaxy CsPbBr_(3)film is fabricated,exhibiting power conversion efficiency(PCE)of up to 10.64%and stability over 2000 h in the air. 展开更多
关键词 all-inorganic perovskite solar cells buried interface modification monolayer graphene van der Waals epitaxial growth
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ZnSb/Ti_(3)C_(2)T_(x)MXene van der Waals heterojunction for flexible near-infrared photodetector arrays 被引量:2
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作者 Chuqiao Hu Ruiqing Chai +2 位作者 Zhongming Wei La Li Guozhen Shen 《Journal of Semiconductors》 EI CAS CSCD 2024年第5期99-105,共7页
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
关键词 ZnSb nanoplates Ti_(3)C_(2)T_(x)MXene van der Waals heterojunction flexible photodetector image sensing
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粉尘螨变应原Der f 36重组蛋白制备及其与Der p 36的交叉反应性研究
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作者 任雅宁 廖媛芬 +4 位作者 周冬梅 崔玉宝 顾晓虹 周鹰 张健 《中国免疫学杂志》 CAS CSCD 北大核心 2024年第8期1744-1748,1754,共6页
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
关键词 der f 36 免疫原性 生物信息学 der p 36
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重组粉尘螨变应原rDer f 27制备及其活性鉴定
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作者 任雅宁 周冬梅 +3 位作者 廖媛芬 周鹰 崔玉宝 费捷 《中国免疫学杂志》 CAS CSCD 北大核心 2024年第10期2168-2173,共6页
目的:制备粉尘螨变应原第27组分(Der f 27)重组蛋白,鉴定其免疫活性。方法:构建pET-28a(+)-Der f 27质粒,转化至E.coli 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 27。IgE-ELISA和IgE-Western blot检测rDer f 27与... 目的:制备粉尘螨变应原第27组分(Der f 27)重组蛋白,鉴定其免疫活性。方法:构建pET-28a(+)-Der f 27质粒,转化至E.coli 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 27。IgE-ELISA和IgE-Western blot检测rDer f 27与粉尘螨变应性鼻炎患者血清IgE结合率,分别将变应性鼻炎患者PBMC、人支气管上皮细胞BESA-2B与rDer f 27共孵育24 h后测定细胞因子表达;生物信息学软件分析Der f 27的理化性质和结构。结果:成功构建pET-28a(+)-Der f 27质粒并转化至BL21(DE3)细胞,经IPTG诱导表达和纯化后,SDS-PAGE和Western blot在约48 kD处见特异性条带;IgE-ELISA和IgEWestern blot检测rDer f 27与粉尘螨变应性鼻炎患者血清IgE结合率分别为39.5%和45.5%;与对照组相比,变应性鼻炎患者PBMC与rDer f 27共孵育后,IL-6和IL-8表达升高(P<0.05);BESA-2B细胞与rDer f 27共孵育后,IL-10和TGF-β表达降低,IL-17A和IL-23A表达升高(P<0.05);生物信息学结果显示Der f 27属于丝氨酸蛋白酶抑制物家族,具有此家族通用结构及功能,二级结构主要为α螺旋(42.62%)和无规则卷曲(35.60%)。结论:成功制备了具有较好免疫反应性和免疫原性的重组变应原rDer f 27,并揭示其为变应性鼻炎的重要变应原之一。 展开更多
关键词 粉尘螨 变应原 der f 27 免疫反应性 免疫原性 丝氨酸蛋白酶抑制物
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Low-Cost and Biodegradable Thermoelectric Devices Based on van der Waals Semiconductors on Paper Substrates
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作者 Gulsum Ersu Carmen Munuera +12 位作者 Federico J.Mompean Daniel Vaquero Jorge Quereda João Elias F.S.Rodrigues Jose A.Alonso Eduardo Flores Jose R.Ares Isabel J.Ferrer Abdullah M.Al-Enizi Ayman Nafady Sruthi Kuriakose Joshua O.Island Andres Castellanos-Gomez 《Energy & Environmental Materials》 SCIE EI CAS CSCD 2024年第1期201-206,共6页
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 semic... 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. 展开更多
关键词 paper-based electronics Seebeck effect SEMICONDUCTORS THERMOELECTRICS van der Waals materials
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Rational design of vitamin C/defective carbon van der Waals heterostructure for enhanced activity,durability and storage stability toward oxygen reduction reaction
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作者 Ruiqi Cheng Kaiqi Li +5 位作者 Huanxin Li Tianshuo Zhao Yibo Wang Qingyue Xue Jiao Zhang Chaopeng Fu 《Journal of Energy Chemistry》 SCIE EI CAS CSCD 2024年第1期103-111,I0003,共10页
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 def... 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. 展开更多
关键词 Van der Waals heterostructure Oxygen reduction reaction Stability Scalable production Aluminum-air battery
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Phonon resonance modulation in weak van der Waals heterostructures:Controlling thermal transport in graphene-silicon nanoparticle systems
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作者 李毅 刘一浓 胡世谦 《Chinese Physics B》 SCIE EI CAS CSCD 2024年第4期96-102,共7页
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 inf... 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. 展开更多
关键词 thermal conductivity molecular dynamics phonon resonance van der Waals interaction graphene-silicon nanoparticle heterostructure
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Mass-spring model for elastic wave propagation in multilayered van der Waals metamaterials
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作者 Yabin JING Lifeng WANG Yuqiang GAO 《Applied Mathematics and Mechanics(English Edition)》 SCIE EI CSCD 2024年第7期1107-1118,共12页
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... 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. 展开更多
关键词 multilayered van der Waals(vd W)metamaterial molecular dynamics(MD) mass-spring model(MSM) dispersion relation transmission characteristic
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基于综合赋权和改进K-means++的DERs区域类型划分研究 被引量:6
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作者 李虹 段杰 +1 位作者 陈非凡 张登岳 《智慧电力》 北大核心 2020年第12期51-57,78,共8页
虚拟电厂和负荷聚合商能把分布式能源资源整合为资源聚合体,具有良好的发展前景。针对广泛分布式能源资源的城市区域,根据指标评价和聚类分析提出了一种区域类型划分方法。根据资源聚合体的特点,构建了能反映资源特性的综合指标体系;采... 虚拟电厂和负荷聚合商能把分布式能源资源整合为资源聚合体,具有良好的发展前景。针对广泛分布式能源资源的城市区域,根据指标评价和聚类分析提出了一种区域类型划分方法。根据资源聚合体的特点,构建了能反映资源特性的综合指标体系;采用G1法和熵值法结合的综合赋权法确定各个指标权重;引入双尺度距离的概念,采用改进的K-means++算法对网格进行聚类分析,进而确定区域类型划分。最后,以北方某城市为例进行算例分析,验证了方法的适用性。 展开更多
关键词 分布式能源资源 指标特性 综合权重 聚类分析
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Helsmoortel-Van der Aa综合征的临床诊断和文献复习 被引量:1
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作者 李宇 陈启慧 +4 位作者 吴若豪 孙怡 唐丹霞 李栋方 何展文 《温州医科大学学报》 CAS 2023年第10期834-838,共5页
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... 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。 展开更多
关键词 ADNP基因 Helsmoortel-Van der Aa综合征 智力障碍 孤独症谱系障碍 基因测序
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计及CO2排放机组组合问题的加速广义Benders分解法 被引量:1
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作者 郑海艳 《广西科学》 CAS 2016年第5期409-415,共7页
提出求解计及C02排放机组组合(unitc〇mmitment,UC)问题的一个加速广义Benders分解法:首先建立相关问题的一个近似混合整数二次规划模型;然后根据UC问题特点提出一类简单却非常有效的整数割平面,并基于该割平面以及其他一些加速技... 提出求解计及C02排放机组组合(unitc〇mmitment,UC)问题的一个加速广义Benders分解法:首先建立相关问题的一个近似混合整数二次规划模型;然后根据UC问题特点提出一类简单却非常有效的整数割平面,并基于该割平面以及其他一些加速技术构造求解UC问题相应模型的加速广义Benders分解法;最后将所提方法在10.100台机组24时段等6个系统上进行数值测试。与其他方法相比较,本文所提方法测试结果较优,说明所提方法是有效的,从而为有效求解相关UC问题提供了一条新的途径。 展开更多
关键词 机组组合 混合整数二次规划 整数割平面 加速广义Benders分解
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Fe-Mo-B-CSINTERED STE ELS PRODUCED BY ADDITI ON OF MASTER ALLOY POWDERS 被引量:25
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作者 Z. M. Xiu1) , L. X. Ding2) , Z. J. Zhao3) , J. You3) , Z. Zhang3) , F. M. He1)and X. D. Sun1)1) School of Materials and Metallurgy , Northeastern University , Shenyang 110006 , China2) Department of Materials , School of Mechan 《Acta Metallurgica Sinica(English Letters)》 SCIE EI CAS CSCD 1999年第5期1198-1201,共4页
Addition of Fe B C and Fe Mo B C m aster alloy pow ders to Fe Mo B Csintered steels can ac tivate the sintering process by liquid phase sintering . The for m ation of liquid ( α- Fe + ( Fe , Mo... Addition of Fe B C and Fe Mo B C m aster alloy pow ders to Fe Mo B Csintered steels can ac tivate the sintering process by liquid phase sintering . The for m ation of liquid ( α- Fe + ( Fe , Mo) 2 B+ Fe3( B, C) → L) i m proves m echanical properties of the steels , and ultim ate tensilestrengths of 684 774 M Pa , i m pact energy of 47 ±7 Jand elongation of 2 5 ±0 9 were ob tained . Optim u m a mount of liquid phase exists , and alarge a mount of liquid phase will re sult in the form ation of continuous netw ork of liquid phase that is detrim ental to strength andelongation . 展开更多
关键词 m aster alloy po w der DENSIFICATION SHRINKAGE
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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 被引量:1
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作者 童铃 张睿 +2 位作者 张玉容 彭国霖 蒋欣廷 《实用临床医药杂志》 2023年第21期47-51,共5页
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Kap... 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。 展开更多
关键词 脊柱转移瘤 van der Linden评分 营养风险筛查2002 预后
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Bloating and functional gastro-intestinal disorders: Where are we and where are we going? 被引量:9
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作者 Paola Iovino Cristina Bucci +2 位作者 Fabrizio Tremolaterra Antonella Santonicola Giuseppe Chiarioni 《World Journal of Gastroenterology》 SCIE CAS 2014年第39期14407-14419,共13页
Bloating is one of the most common and bothersome symptoms complained by a large proportion of patients. This symptom has been described with various definitions, such as sensation of a distended abdomen or an abdomin... Bloating is one of the most common and bothersome symptoms complained by a large proportion of patients. This symptom has been described with various definitions, such as sensation of a distended abdomen or an abdominal tension or even excessive gas in the abdomen, although bloating should probably be defined as the feeling (e.g. a subjective sensation) of increased pressure within the abdomen. It is usually associated with functional gastrointestinal disorders, like irritable bowel syndrome, but when bloating is not part of another functional bowel or gastrointestinal disorder it is included as an independent entity in Rome III criteria named functional bloating. In terms of diagnosis, major difficulties are due to the lack of measurable parameters to assess and grade this symptom. In addition, it is still unclear to what extent the individual patient complaint of subjective bloating correlates with the objective evidence of abdominal distension. In fact, despite its clinical, social and economic relevance, bloating lacks a clear pathophysiology explanation, and an effective management endorsement, turning this common symptom into a true challenge for both patients and clinicians. Different theories on bloating etiology call into questions an increased luminal contents (gas, stools, liquid or fat) and/or an impaired abdominal empting and/or an altered intra-abdominal volume displacement (abdomino-phrenic theory) and/or an increased perception of intestinal stimuli with a subsequent use of empirical treatments (diet modifications, antibiotics and/or probiotics, prokinetic drugs, antispasmodics, gas reducing agents and tricyclic antidepressants). In this review, our aim was to review the latest knowledge on bloating physiopathology and therapeutic options trying to shed lights on those processes where a clinician could intervene to modify disease course. 展开更多
关键词 BLOATING Functional gastro-intestinal disorders Irritable bowel syndrome Constipation Diarrhea
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4例伴der(1;7)(q10;p10)骨髓增生异常综合征的临床和实验室分析
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作者 王艳平 田敏 +2 位作者 郑鹏 石雪艳 王静波 《医学理论与实践》 2023年第7期1089-1092,1106,共5页
目的:探讨伴特征性der(1;7)(q10;p10)染色体异常的骨髓增生异常综合征(MDS)的临床和实验室特征。方法:骨髓细胞24h短期培养法制备染色体,利用G显带的方法进行染色体核型分析;采用MDS相关探针进行荧光原位杂交(FISH)检测,并结合临床资料... 目的:探讨伴特征性der(1;7)(q10;p10)染色体异常的骨髓增生异常综合征(MDS)的临床和实验室特征。方法:骨髓细胞24h短期培养法制备染色体,利用G显带的方法进行染色体核型分析;采用MDS相关探针进行荧光原位杂交(FISH)检测,并结合临床资料分析。结果:4例患者多数为中老年男性(3/4),血小板计数低(中位数33×10^(9)/L),病态造血细胞发育异常1~2系;染色体核型分析结果2例单纯der(1;7)(q10;p10)异常,1例附加+8,1例复杂异常核型附加del(3q)和+8;FISH均有D7S486基因位点缺失,2例CEP8基因位点多个拷贝;随访3例患者死亡,1例失访,单纯der(1;7)(q10;p10)异常患者生存期27个月,1例附加+8患者采用异基因造血干细胞移植治疗,总生存期达到9年余,1例复杂核型患者生存期14个月。结论:伴der(1;7)(q10;p10)染色体异常的MDS患者具有某些独特的临床特点,如中老年男性居多、血小板计数低、三系病态造血少。伴单纯der(1;7)(q10;p10)患者预后中等,附加+8预后不受影响,复杂异常核型预后差,造血干细胞移植不乏是一种好的治疗方式。 展开更多
关键词 染色体 der(1 7)(q10 p10) 骨髓增生异常综合征 预后
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分数阶van der Pol-Mathieu方程的动力学分析
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作者 郭建斌 申永军 《振动与冲击》 EI CSCD 北大核心 2023年第8期62-68,共7页
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... 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。 展开更多
关键词 分数阶微分 van der Pol-Mathieu方程 平均法 稳定性
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