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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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Electrical discharge and arc milling with automatic tracking of optimal flushing direction:A novel high-efficiency compound machining method

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Chinese Journal of Aeronautics 2024年第3期37卷 351-364页

作者： Xinlei WU Yonghong LIU Pengxin ZHANG Liang qi Dege LI Chi ma Renjie ji College of Mechanical and Electronic Engineering China University of Petroleum(East China)Qingdao 266580China School of Mechanical and Power Engineering Nanjing Tech UniversityNanjing 211816China

The arc milling method has the advantages of high machining efficiency and low cost and is independent of the strength and hardness of machined ***,frequent electrode back-offs and the risk of workpiece burning may occur if erosion products are not removed *** this study,it was found that the flushing method of the working medium had a significant impact on the machining performance of arc *** on this,a novel highefficiency compound machining method of electrical discharge and arc milling with automatic tracking of the optimal flushing direction was *** automatic tracking optimizer for external working medium injection was designed to determine the optimal external flushing direction according to the feed *** influence of flushing methods,working mediums,and machining parameters on the machining efficiency,tool electrode wear rate,machining error,and surface integrity of titanium alloys were *** results indicated that better machining performance and environmental friendliness were achieved using the compound flushing method of outer compressed air and inner deionized ***,the automatic tracking flushing method in the opposite direction of the feed direction showed superior results compared to other *** material removal rate with the opposite direction injection could be increased up to 1.62 times that of the same direction,and the relative electrode wear rate could be reduced by 14.76%.This novel method has broad application prospects for machining parts with difficult-to-cut materials in aerospace and military industries.

关键词： Arc milling Dielectric Difficult-to-cut materials Electric discharge machining Erosion material removal rate

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Time-inconsistent stochastic linear-quadratic control problem with indefinite control weight costs

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Science China mathematics 2024年第1期67卷 211-236页

作者： qi Lü Bowen ma School of mathematics Sichuan UniversityChengdu 610064China

A time-inconsistent linear-quadratic optimal control problem for stochastic differential equations is *** introduce conditions where the control cost weighting matrix is possibly *** such conditions,we obtain a family of closed-loop equilibrium strategies via multi-person differential *** result extends Yong’s work(2017) in the case of stochastic differential equations,where a unique closed-loop equilibrium strategy can be derived under standard conditions(namely,the control cost weighting matrix is uniformly positive definite,and the other weighting coefficients are positive semidefinite).

关键词： linear-quadratic optimal control problem time-inconsistent cost functional generalized Riccati equation indefinite control weight cost closed-loop equilibrium strategy

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Deciphering and integrating invariants for neural operator learning with various physical mechanisms

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National Science Review 2024年第4期11卷 111-122页

作者： Rui Zhang qi Meng Zhi-Ming ma Academy of mathematics and Systems Science Chinese Academy of Sciences(CAS) Microsoft Research

Neural operators have been explored as surrogate models for simulating physical systems to overcome the limitations of traditional partial differential equation(PDE) solvers. However, most existing operator learning methods assume that the data originate from a single physical mechanism, limiting their applicability and performance in more realistic scenarios. To this end, we propose the physical invariant attention neural operator(PIANO) to decipher and integrate the physical invariants for operator learning from the PDE series with various physical mechanisms. PIANO employs self-supervised learning to extract physical knowledge and attention mechanisms to integrate them into dynamic convolutional *** to existing techniques, PIANO can reduce the relative error by 13.6%–82.2% on PDE forecasting tasks across varying coefficients, forces or boundary conditions. Additionally, varied downstream tasks reveal that the PI embeddings deciphered by PIANO align well with the underlying invariants in the PDE systems, verifying the physical significance of PIANO.

关键词： neural operator PDE solver contrastive learning physical invariants

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An efficient recycling strategy to eliminate the residual“impurities”while heal the damaged structure of spent graphite anodes

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Green Energy & Environment 2024年第6期9卷 1027-1034页

作者： Dan Yang Ying Yang Haoran Du Yongsheng ji Mingyuan ma Yujun Pan Xiaoqun qi Quan Sun Kaiyuan Shi Long qie Institute of New Energy for Vehicles School of Materials Science and EngineeringTongji UniversityShanghai201804China State Key Laboratory of material Processing and Die&Mold Technology School of Materials Science and EngineeringHuazhong University of Science and TechnologyWuhan430074China Shuangdeng Group Co. Ltd.Taizhou225500China School of materials Science and Engineering Sun Yat-Sen UniversityGuangzhou510275China

The recycling of graphite from spent lithium-ion batteries(LIBs)is overlooked due to its relatively low added value and the lack of efficient recovering *** reuse the spent graphite anodes,we need to eliminate their useless components(mainly the degraded solid electrolyte interphase,SEI)and reconstruct their damaged ***,a facile and efficient strategy is proposed to recycle the spent graphite on the basis of the careful investigation of the composition of the cycled graphite anodes and the rational design of the regeneration *** regenerated graphite,which is revitalized by calcination treatment and acid leaching,delivers superb rate performance and a high specific capacity of 370 mah g^(-1)(~99% of its theoretical capacity)after 100 cycles at 0.1 C,superior to the commercial graphite *** improved electrochemical performance could be attributed to unchoked Li^(+) transport channels and enhanced charge transfer reaction due to the effective destruction of the degraded SEI and the full recovery of the damaged structure of the spent *** work clarifies that the electrochemical performance of the regenerated graphite could be deteriorated by even a trace amount of the residual“impurity”and provides a facile method for the efficient regeneration of graphite anodes.

关键词： Graphite Anode Regeneration Solid electrolyte interphase Spent lithium-ion battery

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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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A robust viscoelastic surfactant tolerating 20% HCl up to 150℃ for oil well stimulation

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Petroleum Science 2024年第3期21卷 1865-1874页

作者： ji Wang Ning qi Hong-Yao Yin Yu-Jun Feng Polymer Research Institute State Key Laboratory of Polymer Materials EngineeringSichuan UniversityChengdu610065SichuanPR.China Tianfu Yongxing Laboratory New Theory and Technology of CO_(2) Capture Research CenterChengdu610065SichuanPR China School of Petroleum Engineering China University of Petroleum(East China)Qingdao266580ShandongPR China

Viscoelastic surfactants(VES)are often used as viscous diverters in acidizing stimulation to prolong the acid consumption time and maximize zonal coverage of the acid for improving well ***,the ceiling temperature of commercial VES cannot exceed 120℃in practical use because of the poor thermal stability and fragile molecular structure,hindering their implementation in hightemperature oil reservoirs,i.e.,≥150℃.Here we synthesized a novel C22-tailed diamine,N-erucaminopropyl-N,N-dimethylamine(EDPA),and examined comparatively its rheological behavior,assemblies morphology and molecular stability in 20 wt%HCl with a commercial VES,erucyl dimethyl amidopropyl betaine(EDAB).The feasibility of EDPA for acidizing stimulation was assessed by acid etching of carbonate rock with its HCl solution at 150℃.Rheological results showed that the 2.5 wt%EDPA—20 wt%HCl solution maintains stable viscosity of 90 m Pa s at 150℃for 60 min,while that of 2.0 wt%EDAB HCl solution is just 1 m Pa s under identical conditions.1H NMR spectra and cryo-TEM observations revealed that the chemical structure and self-assembled architectures of EDPA remained intact in such context,but the EDAB suffered from degradation due to the hydrolysis of the amide group,accounting for the poor heat-resistance and *** reaction rate of 2.5 wt%EDPA HCl solution with carbonate rock was one order of magnitude lower than that of 20 wt%HCl solution at 150℃,underpinning the potential of EDPA to be used in the high-temperature reservoirs *** work improved the thermal tolerance of VES in highly concentrated HCl solution,paving a feasible way for the acidization of high-temperature reservoir environments(~150℃).

关键词： Viscoelastic surfactants Thermal stability Self-diverting acid Wormlike micelles Acidizing stimulation

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Land-population-industry based village evolution and its influencing factors in the upper Tuojiang River

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Journal of Mountain Science 2024年第8期21卷 2790-2809页

作者： ZHAN Yunjun ji Yuxin HUANG jiejun ma Changying ma Chuanqi School of Resources and Environmental Engineering Wuhan University of TechnologyWuhan 430070China

With economic development and urbanization in China,the rural settlements have experienced great *** explore the evolution process of rural settlements in terms of land,population and industry can reveal the development law of rural spatial distribution,population structure and industrial economy in different stages and *** the development status and evolution characteristics of villages in the upper Tuojiang River basin in Southwest China in the past 20 years are of significant *** upper Tuojiang River basin includes the main types of terrain found in the Southwest region:mountainous,plains,and hills,exhibiting a certain typicality of geographical *** study took towns and townships at the town-level scale as the basic unit of research,and constructed an evaluation system for village evolution based on'land,population,and industry'.It employed Criteria Importance Through Inter-Criteria Correlation(CRITIC)analysis to examine the characteristics of village evolution in the area from 2000 to 2020,and used geographic detector analysis to identify the leading factors affecting village *** results show that:(1)From 2000 to 2010,villages in the upper Tuojiang River basin experienced significant changes,and the pace of these transformations slowed from 2010 to 2020.(2)From a comprehensive perspective,from 2000 to 2020,villages in hilly areas show a decline,while villages in plain areas near the city center show a positive urbanization development.(3)Road accessibility and distance from the city center are the main factors that explain the spatial differentiation of village evolution degree in the study *** study elucidates the spatiotemporal evolution characteristics of villages in the upper Tuojiang River basin and identifies the primary factors contributing to their changes,which will provide a reference for investigating the development of rural areas in different terrains of Southwest China.

关键词： Village evolution Land Population Industry Geographic detector

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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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In-depth understanding of transport behavior of sulfided nano zerovalent iron/reduced graphene oxide@guar gum slurry: Stability and mobility

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Journal of Environmental Sciences 2024年第10期144卷 1-14页

作者： Yuheng ma Wenhui You Zijiang Yang Zhongyu Ren qi jing Faculty of Architecture Civil and Transportation EngineeringBeijing University of TechnologyBeijing 100124China

Nanoscale zero-valent iron(NZVI),which has the advantages of small particle size,large specific surface area,and high reactivity,is often injected into contaminated aquifers in the form of ***,the prone to passivation and agglomeration as well as poor stability andmobility of NZVI limit the further application of this technology in ***,sulfided NZVI loaded on reduced graphene oxide(S-NZVI/rGO)and guar gum(GG)with shearthinning properties as stabilizers were used to synthesize S-NZVI/rGO@GG ***,TEM,and FT-IR confirmed that the dispersion and anti-passivation of NZVI were optimized in the coupled *** stability and mobility of the slurry were improved by increasing the GG concentration,enhancing the pH,and decreasing the ionic strength and the presence of Ca^(2+)ions,respectively.A modified advection-dispersion equation(ADE)was used to simulate the transport experiments considering the strain and physicochemical deposition/***,colloidal filtration theory(CFT)demonstrated that Brownian motion plays a dominant role in themigration of S-NZVI/rGO@GG slurry,and the maximummigration distance can be increased by appropriately increasing the injection ***-Derjaguin-Landau-Verwey-Overbeek(XDLVO)theory showed that the excellent stability and migration of S-NZVI/rGO@GG slurry mainly came from the GG spatial *** study has important implications for the field injection of S-NZVI/rGO@GG *** to the injection parameters,the injection range of S-NZVI/rGO@GG slurry is effectively controlled,which lays the foundation for the promotion of application in actual fields.

关键词： S-NZVI rGO Guar gum Transport Stability

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