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Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report

World Journal of Clinical Cases 2022年第31期10卷 11486-11492页

作者： Shuang-Zhu Lin qi-Ji ma qi-Ming Pang qian-Dui Chen Wan-qi Wang Jia-Yi Li Su-Li Zhang Diagnosis and Treatment Center for Children The First Affiliated Hospital to Changchun University of Chinese MedicineChangchun 130021Jilin ProvinceChina The First Affiliated Hospital to Changchun University of Chinese Medicine Changchun 130021Jilin ProvinceChina Department of Neonatology Hainan Women and Children's Medical CenterHaikou 570100Hainan ProvinceChina Changchun University of Chinese Medicine Changchun 130000Jilin ProvinceChina

BACKGROUND Combined pituitary hormone deficiency 3(CPHD3;OMIM:221750)is caused by mutations within the LHX3 gene(OMIM:600577),which located on the subtelomeric region of chromosome 9 at band 9q34.3,has seven coding exons and six *** homeobox(LHX)3 protein is the key regulator of pituitary development in fetal *** SUMmaRY We have diagnosed and treate an 11-year-old boy with combined pituitary hormone deficiency(CPHD).The main clinical manifestations were pituitary hormone deficiency,hydrocele of the tunica vaginalis,pituitary dwarfism,gonadal dysplasia,micropenis,clonic convulsion,and mild facial dysmorphic *** collected peripheral blood from the patient,the patient's older brother,as well as their parents,and sequenced them by using high-throughput whole-exosome sequencing,which was verified by Sanger *** results showed that there were two compound heterozygous variants of c.613G>C(p.V205L)and c.220T>C(p.C74R)in the LHX3 gene.c.613G>C(p.V205L)was inherited from his mother and c.220T>C(p.C74R)from his *** brother also has both variants and *** This study reported ununreported genetic mutations of LHX3,and recorded the treatment process of the patients,providing data for the diagnosis and treatment of CPHD.

关键词： Combined pituitary hormone deficiency LHX3 Children Gonadal dysplasia Case report

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GhAP1-D3 positively regulates flowering time and early maturity with no yield and fiber quality penalties in upland cotton

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Journal of Integrative Plant Biology 2023年第4期65卷 985-1002页

作者： Caixiang Wang Juanjuan Liu Xiaoyu Xie Ji Wang qi ma Pengyun Chen Delong Yang Xiongfeng ma Fushun Hao Junji Su State Key Laboratory of Aridland Crop Science College of Life Science and TechnologyGansu Agricultural UniversityLanzhou 730070China State Key Laboratory of Cotton Biology College of Life ScienceHenan UniversityKaifeng 475004China Cotton Research Institute Xinjiang Academy of Agricultural and Reclamation ScienceShihezi 832000China State Key Laboratory of Cotton Biology Institute of Cotton Research of Chinese Academy of Agricultural SciencesAnyang 455000China

Flowering time(FTi)is a major factor determining how quickly cotton plants reach *** maturity greatly affects lint yield and fiber quality and is crucial for mechanical harvesting of cotton in northwestern ***,few quantitative trait loci(QTLs)or genes regulating early maturity have been reported in cotton,and the underlying regulatory mechanisms are largely *** this study,we characterized 152,68,and 101 loci that were significantly associated with the three key early maturity traits—FTi,flower and boll period(FBP)and whole growth period(WGP),respectively,via four genome-wide association study methods in upland cotton(Gossypium hirsutum).We focused on one major early maturity-related genomic region containing three single nucleotide polymorphisms on chromosome D03,and determined that GhAP1-D3,a gene homologous to Arabidopsis thaliana APETALA1(AP1),is the causal locus in this *** plants overexpressing GhAP1-D3 showed significantly early flowering and early maturity without penalties for yield and fiber quality compared to wild-type(WT)*** contrast,the mutant lines of GhAP1-D3 generated by genome editing displayed markedly later flowering than the ***1-D3 interacted with GhSOC1(SUPPRESSOR OF OVEREXPRESSION OF CONSTANS 1),a pivotal regulator of FTi,both in vitro and in *** in GhAP1-D3 transcript levels clearly affected the expression of multiple key flowering regulatory ***,DNA hypomethylation and high levels of H3K9ac affected strong expression of GhAP1-D3 in early-maturing cotton *** propose that epigenetic modifications modulate GhAP1-D3 expression to positively regulate FTi in cotton through interaction of the encoded GhAP1 with GhSOC1 and affecting the transcription of multiple flowering-related *** findings may also lay a foundation for breeding early-maturing cotton varieties in the future.

关键词： upland cotton early maturity genome‐wide association studies QTL AP1 flowering time

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Review on heat-to-power conversion technologies for hypersonic vehicles

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Chinese Journal of Aeronautics 2024年第5期37卷 148-179页

作者： Yinke qi Xiaofeng ma Peixue JIANG Yinhai ZHU Key Laboratory for Thermal Science and Power Engineering of Ministry of Education Department of Energy and Power EngineeringTsinghua UniversityBeijing 100084China Beijing Key Laboratory of CO_(2)Utilization and Reduction Technology Department of Energy and Power EngineeringTsinghua UniversityBeijing 100084China

Hypersonic vehicles have enormous military and economic value,while their power and thermal protection demands will increase substantially with the rise in mach number and *** the tremendous high-quality heat on the vehicle surface and engine wall into electrical energy through heat-to-power technologies will not only play a role in thermal protection,but also supply power for the *** paper provides a comprehensive review of heat-to-power conversion technologies on hypersonic vehicles,including the indirect conversion of Brayton and Rankine cycles,direct conversion of thermoelectric materials,and combined *** the open Brayton cycle with hydrocarbon fuel as the working fluid,the Power-to-Weight Ratio(PWR)can achieve the highest,at around 1.8,due to the high PWR of the hydrocarbon fuel turbine and the few components of the ***,its work capacity is limited by the flow rate of the supplied *** closed Brayton cycle can maintain a relatively high PWR,ranging from 0.2 to 0.8,while achieving relatively high output power and conversion *** Rankine cycle has a higher PWR,its range is close to that of the closed Brayton cycle,peaking at about *** thermoelectric materials technology has a small power generation level,making it more suitable for scenarios with low power *** review provides a basis for selecting and developing heat-to-power conversion technologies on hypersonic vehicles.

关键词： Hypersonic vehicles Heat-to-power conversion Brayton cycle Rankine cycle Thermoelectric materials

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ZnO Surface Passivation with Glucose Enables Simultaneously Improving Efficiency and Stability of Inverted Polymer:Non-fullerene Solar Cells

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Chinese Journal of Polymer Science 2022年第12期40卷 1594-1603,I0007页

作者： Bo-Wen Liu Ze-Rui Li Ling-Peng Yan Jing-Bo Guo Qun Luo Chang-qi ma School of Nano-Tech and Nano-Bionics University of Science and Technology of ChinaHefei 230026China i-Lab&Printable Electronics Research Center Suzhou Institute of Nano-Tech and Nano-BionicsChinese Academy of SciencesSuzhou 215123China

The power conversion efficiency(PCE)of polymer solar cells(PSCs)has exceeded 19%due to the rapid progress of photoactive organic materials,including conjugated polymer donors and the matched non-fullerene acceptors(NFAs).Due to the high density of oxygen vacancies and the consequent photocatalytic reactivity of ZnO,structure inverted polymer solar cells with the ZnO electron transport layer(ETL)usually suffer poor device *** this work,the eco-friendly glucose(Glu)is found to simultaneously improve the efficiency and stability of polymer:NFA solar *** the optimal conditions,we achieved improved PCEs from 14.77%to 15.86%for the PM6:Y6 solar *** a PCE improvement was attributed to the improvement in J_(SC) and FF,which is ascribed to the smoother and more hydrophobic surface of the ZnO/Glu surface,thereby enhancing the charge extraction efficiency and inhibiting charge ***,UV-Vis absorption spectra analysis revealed that glucose modification could significantly inhibit the photodegradation of Y6,resulting in a significant improvement in the stability of the device with 92%of its initial PCE after aging for 1250 *** application of natural interface materials in this work brings hope for the commercial application of organic solar cells and provides new ideas for developing new interface materials.

关键词： Polymer solar cells Glucose Surface passivation Charge injection Stability improvement

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数字孪生智能矿山管控平台及智能洗选管控平台建设

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煤矿现代化 2024年第2期33卷 55-58,63页

作者：井朝喜刘文玉柯晓天马琦中煤建筑安装工程集团有限公司河北邯郸056000 中国矿业大学(北京) 北京100000 宁波硅步矿山智能装备有限公司浙江宁波315400

煤矿智能化的技术革新催动着煤矿安全管理迈入智能化,以安全风险智能管控为方向的煤矿智能化安全是智能煤矿建设的安全前提和安全保障。数字化转型和数字经济的发展成为产业变革的主基调,国内外众多矿山企业相继实施了数字矿山或者智能... 详细信息

煤矿智能化的技术革新催动着煤矿安全管理迈入智能化,以安全风险智能管控为方向的煤矿智能化安全是智能煤矿建设的安全前提和安全保障。数字化转型和数字经济的发展成为产业变革的主基调,国内外众多矿山企业相继实施了数字矿山或者智能矿山的建设,因每个矿山的工艺特点和基础条件存在不同,导致建设成效差异较大。围绕智能矿山建设的内涵和目标,综合运用计算机、网络、集成、智能控制等先进技术,全面构建集调度管理、安全监测、视频监视、通信指挥为一体的中煤建筑安装工程集团有限公司生产调度信息化管控信息化平台,以求达到各类安全生产信息的高度集中,矿井各生产环节的有效信息实时掌握,做到“管、控、营”的一体化调度。为“中国智造”奠定了技术基础。

关键词：数字孪生矿山智能管控平台智能洗选管控平台

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Characteristics of Scholte wave and film characterization in layered thin film overlying substrate structures

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Chinese Journal of Acoustics 2023年第3期42卷 349-363页

作者： SONG Bowen ma qi HU Wenxiang Institute of Acoustics Tongji UniversityShanghai 200092 Edan Instrument Shenzhen 518122

The layered film-substrate structure is widely used in many fields such as microelectronic devices,but the ultrasonic measurement of film material parameters,especially the characterization of shear wave velocity,is a difficult *** this paper,the dispersion characteristics of Scholte wave at the liquid-solid interface and the acoustic pressure response generated by a pulse excitation are theoretically *** results show that the Scholte wave dispersion at the liquid-solid interface is closely related to the velocity distribution of the layered film-substrate *** thickness and shear wave velocity of each layer of the thin film material have a significant effect on the interface wave dispersion *** on the dispersion properties of Scholte interface waves,a multi-parameter inversion characterization method for multilayer films is ***,the film parameter inversion is carried out for the theoretical signal,which verifies the feasibility of the *** experiments on the excitation and acquisition of liquid-solid interface waves are carried out on different types of multilayer film material samples,and the film parameter inversion results of the experimental signals further verify the feasibility and effectiveness of the method.

关键词： film wave characterization

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Experimental investigation on weak shock wave mitigation characteristics of flexible polyurethane foam and polyurea

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Defence Technology（防务技术） 2024年第1期31卷 179-191页

作者： Shiyu Jia Cheng Wang Wenlong Xu Dong ma Fangfang qi State Key Laboratory of Explosion Science and Technology Beijing Institute of TechnologyBeijing100081China Institute for Advanced Technology Shandong UniversityJinan250061China

In recent years,explosion shock wave has been considered as a signature injury of the current military *** strong shock wave is lethal to the human body,weak shock wave can cause many more lasting *** investigate the protection ability and characteristics of flexible materials and structures under weak shock wave loading,the blast wave produced by TNT explosive is loaded on the polyurethane foam with the density of 200.0 kg/m3(F-200)and 400.0 kg/m3(F-400),polyurea with the density of 1100.0 kg/m^(3)(P-1100)and structures composed of the two materials,which are intended for individual *** results indicate that the shock wave is attenuated to weak pressure disturbance after interacting with the flexible materials which are not *** shock wave protective capability of single-layer materials is dependent on their thickness,density and microscopic *** overpressure,maximum pressure rise rate and impulse of transmitted wave decrease exponentially with increase in sample *** the same thickness,F-400 provides better protective capability than F-200 while P-1100 shows the best protective capability among the three *** this study,as the materials are not destroyed,F-200 with a thickness more than10.0 mm,F-400 with a thickness more than 4.0 mm,and P-1100 with a thickness more than 1.0 mm can attenuate the overpressure amplitude more than 90.0%.Further,multi-layer flexible composites are *** layer layouts of designed structures and layer thickness of the single-layer materials can affect the protective *** the research range,the structure in which polyurea is placed on the impact side shows the optimal shock wave protective performance,and the thicknesses of polyurea and polyurethane foam are 1.0 mm and 4.0 mm *** overpressure attenuation rate reached maximum value of 93.3%and impulse attenuation capacity of this structure are better than those of s

关键词： Free-field explosion Weak shock wave mitigation Polyurea Polyurethane foam Multi-layered composites

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近距离下伏煤层沿空掘巷围岩破坏特征及支护技术研究

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煤炭科技 2024年第2期45卷 64-69,77页

作者：赵宏志马祺巍赵一鸣淮北矿业(集团)有限责任公司许疃煤矿安徽淮北235000 中国矿业大学江苏徐州221116

近距离煤层群上覆煤层及本煤层邻近工作面开采造成叠加应力扰动,导致下伏煤层下区段工作面回采巷道围岩稳定控制困难。以许疃煤矿72210工作面近距离煤层开采条件为工程背景,模拟分析了上覆7_(1)煤层开采及下伏7_(2)煤层邻近工作面开采后... 详细信息

近距离煤层群上覆煤层及本煤层邻近工作面开采造成叠加应力扰动,导致下伏煤层下区段工作面回采巷道围岩稳定控制困难。以许疃煤矿72210工作面近距离煤层开采条件为工程背景,模拟分析了上覆7_(1)煤层开采及下伏7_(2)煤层邻近工作面开采后,下伏煤层72210工作面回风巷围岩应力演化及损伤特征;基于近距离煤层沿空掘巷采动损伤岩体锚注一体化长锚强化支护思想,提出了72210工作面回风巷的支护参数并成功进行了工业性试验,实现了该类围岩的稳定控制,可为类似条件巷道支护提供参考。

关键词：近距离煤层采动底板应力演化损伤特征锚注一体化

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Self-assembled nanostructures of a series of linear oligothiophene derivatives adsorbed on surfaces

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Chinese Chemical Letters 2023年第2期34卷 630-635页

作者： Xuan Peng Ting Meng Lilei Wang Linxiu Cheng Wenchao Zhai Ke Deng Chang-qi ma qingdao Zeng CAS Key Laboratory of Standardization and Measurement for Nanotechnology CAS Center for Excellence in NanoscienceNational Center for Nanoscience and Technology(NCNST)Beijing 100190China Center of materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijing 100049China Printable Electronics Research Center Suzhou Institute of Nano-Tech and Nano-BionicsChinese Academy of SciencesSuzhou 215123China

many previous studies have shown that the molecular structures of oligothiophene derivatives including molecular skeleton and alkyl chains have a significant effect on their self-assemblies on the *** this work, a series of linear oligothiophene derivatives(DCV-n T-Hex, n = 3~11) modified with terminal dicyanovinyls and alkyl chains were adopted to further investigate the different assembly behaviors at liquid-solid interface by scanning tunneling microscopy(STM). Interestingly, via the hydrogen bonding and van der Waals interactions, DCV-3T-Hex formed zigzag and flower structures while DCV-n T-Hex(n = 4~11) formed lamellar structures. Density functional theory(DFT) calculations show that for the most energetically favorable configurations of DCV-n T-Hex, the different distribution of alkyl chains affected intermolecular interactions, and ultimately led to the different assembled structures. The zigzag and flower structures of DCV-3T-Hex had preferential thermodynamic stability compared to other structures of DCV-n T-Hex(n = 4~11). In addition, self-assembled nanostructures of DCV-n T-Hex molecules with even numbers(n = 4, 6, 8, 10) were overall more stable than those with odd numbers(n = 5, 7, 9,11), and the stability of the self-assembled structure was weakened with the extension of the molecular backbone, individually. The orientation of molecular alkyl chains was found to greatly affect the intermolecular interactions and thus leading to various self-assembly structures of DCV-n T-Hex(n = 3~11).

关键词： Oligothiophene derivatives Scanning tunneling microscopy Supramolecular self-assembly Van der Waals force DFT calculations

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五味子多糖纳米硒的体外抗氧化和肠道菌群调节作用研究

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畜牧兽医学报 2024年第7期55卷 3234-3245页

作者：杜红旭苏利娟何政科谭晓燕张旭马琪曹立亭陈红伟甘玲西南大学动物医学院重庆402460 西南大学中兽医研究所重庆402460

旨在探究五味子多糖纳米硒(SCP-Selenium nanoparticles,SCP-SeNPs)的体外抗氧化活性和肠道菌群调节作用。本研究通过ABTS^(+)、DPPH自由基、OH^(-)和O_(2)^(-)体外清除以及还原力检测试验系统评价了SCP-SeNPs的体外抗氧化活性;进一步通... 详细信息

旨在探究五味子多糖纳米硒(SCP-Selenium nanoparticles,SCP-SeNPs)的体外抗氧化活性和肠道菌群调节作用。本研究通过ABTS^(+)、DPPH自由基、OH^(-)和O_(2)^(-)体外清除以及还原力检测试验系统评价了SCP-SeNPs的体外抗氧化活性;进一步通过16S rRNA高通量测序技术探究其对小鼠肠道菌群的影响。结果显示,SCP-SeNPs具有良好的体外抗氧化活性,且对OH^(-)和O_(2)^(-)的清除活性优于五味子多糖(Schisandra Chinensis polysaccharide,SCP)。16S rRNA检测结果显示,SCP-SeNPs组小鼠盲肠菌群的α多样性指数高于空白对照组(BC组)(P>0.05);β多样性指数表明SCP-SeNPs组与BC组菌群结构存在明显差异。肠道菌群结构分析显示,拟杆菌门、厚壁菌门是小鼠肠道菌群的主要构成。菌群结构差异分析显示,属水平上,SCP-SeNPs组普雷沃氏菌属、Muribaculum、杜波西氏菌属、栖粪杆菌属和梭菌属_UCG_014等有益菌的相对丰度显著增加(P<0.05)。PICRUSt 2功能预测分析显示,蛋白酶体、过氧化物酶体以及苯丙氨酸代谢和托烷、哌啶、吡啶生物碱的生物合成这4个通路在SCP-SeNPs组显著富集(P<0.05)。综上,SCP-SeNPs具有一定的抗氧化能力,可能通过提高肠道有益菌的丰度和调节肠道微生物的物质代谢发挥肠道保护作用,提示SCP-SeNPs可以作为一种新型功能性微量元素添加剂。

关键词：五味子多糖纳米硒抗氧化肠道菌群

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