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Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

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Asian Journal of Andrology 2021年第1期23卷 69-73页

作者： bing-qing yu Zhao-Xiang Liu Yin-Jie Gao Xi Wang Jiang-Feng Mao Min Nie Xue-Yan Wu NHC Key Laboratory of Endocrinology Department of EndocrinologyPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China

46,XY disorders of sex development(DSD)is characterized by incomplete masculinization genitalia,with gonadal dysplasia and with/without the presence of Mullerian *** least 30 genes related to 46,XY DSD have been ***,the clinical phenotypes of patients with different gene mutations overlap,and accurate diagnosis relies on gene sequencing ***,this study aims to determine the prevalence of pathogenic mutations in a Chinese cohort with 46,XY DSD by the targeted nextgeneration sequencing(NGS)***-seven 46,XY DSD patients were enrolled from the Peking Union Medical College Hospital(Beijing,China).A total of fifty-four rare variants were identified in 60 patients with 46,XY *** incidence of these rare variants was approximately 69.0%(60/87).Twenty-five novel variants and 29 reported variants were *** on the American College of Medical Genetics and Genomics(ACMG)guidelines,thirty-three variants were classified as pathogenic or likely pathogenic variants and 21 variants were assessed as variants of uncertain *** overall diagnostic rate was about 42.5%based on the pathogenic and likely pathogenic *** receptor{AR),steroid 5-alpha-reductase 2(SRD5A2)and nuclear receptor subfamily 5 Group A member 1(NR5A1)gene variants were identified in 21,13 and 13 patients,*** incidence of these three gene variants was about 78.3%(47/60)in patients with rare *** is concluded that targeted NGS is an effective method to detect pathogenic mutations in 46,XY DSD patients and AR,SRD5A2,and NR5A1 genes were the most common pathogenic genes in our cohort.

关键词： 46,XY disorders of sex development mutations targeted next-generation sequencing

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Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients

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Asian Journal of Andrology 2020年第4期22卷 390-395页

作者： Ming Hao Min Nie bing-qing yu Yin-Jie Gao Xi Wang Wan-Lu Ma Qi-Bin Huang Rui Zhang Jiang-Feng Mao Xue-Yan Wu NHC Key laboratory of Endocrinolog Peking Union Medical College HospitalDepartment of EndocrinologyPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China Department of Endocrinology The First Affiliated Hospital of Harbin Medical UniversityHarbin 150001China

Partial congenital hypogonadotropic hypogonadism(PCHH)is caused by an insufficiency in,but not a complete lack of,gonadotropin *** leads to reduced testosterone production,mild testicular enlargement,and partial pubertal *** studies have shown the productivity of spermatogenesis in patients with *** compared the outcomes of gonadotropin-induced spermatogenesis between patients with PCHH and those with complete congenital hypogonadotropic hypogonadism(CCHH).This retrospective study included 587 patients with CHH who were treated in Peking Union Medical College Hospital(Beijing,China)from January 2008 to September 2016.A total of 465 cases were excluded from data analysis for testosterone or gonadotropin-releasing hormone treatment,cryptorchidism,poor compliance,or incomplete medical *** defined male patients with PCHH as those with a testicular volume of≥4 ml and patients with a testicular volume of<4 ml as CCHH.A total of 122 compliant,noncryptorchid patients with PCHH or CCHH received combined human chorionic gonadotropin and human menopausal gonadotropin and were monitored for 24 *** size,serum luteinizing hormone levels,follicle-stimulating hormone levels,serum total testosterone levels,and sperm count were recorded at each *** gonadotropin therapy,patients with PCHH had a higher spermatogenesis rate(92.3%)than did patients with CCHH(74.7%).During 24-month combined gonadotropin treatment,the PCHH group took significantly less time to begin producing sperm compared with the CCHH group(median time:11.7 vs 17.8 months,P<0.05).In conclusion,after combined gonadotropin treatment,patients with PCHH have a higher spermatogenesis success rate and sperm concentrations and require shorter treatment periods for sperm production.

关键词： gonadotropin treatment partial congenital hypogonadotropic hypogonadism spermatogenesis

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HEAT KERNEL ON RICCI SHRINKERS(II)

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Acta Mathematica Scientia 2024年第5期44卷 1639-1695页

作者： yu LI bing WANG Institute of Geometry and Physics University of Science and Technology of ChinaHefei230026China Hefei National Laboratory Hefei230088China

This paper is the sequel to our study of heat kernel on Ricci shrinkers[29].In this paper,we improve many estimates in[29]and extend the recent progress of Bamler[2].In particular,we drop the compactness and curvature boundedness assumptions and show that the theory of F-convergence holds naturally on any Ricci flows induced by Ricci shrinkers.

关键词： Ricci flow Ricci shrinker heat kernel

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A Strong,Tough,and Self-Healing Strengthening Thioctic Acid-based Elastomer for Highly Reliable Flexible Strain Sensor

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Chinese Journal of Polymer Science 2024年第10期42卷 1610-1618,I0016页

作者： Xin-yu Chen yu-bing Fu Xue-Ling Yan Lan Liu School of Materials Science and Engineering Key Lab of Guangdong Province for High Property and Functional Polymer MaterialsSouth China University of TechnologyGuangzhou510641China

Elastomers with high strength and toughness,excellent self-healing properties,and biocompatibility have broad application prospects in wearable electronics and other fields,but preparing it remains a *** this work,we propose a highly adaptable strategy by introducing the small molecule crosslinking agent of triethanolamine(TEA)to the poly(thioctic acid)(PTA)chains and preparing the PAx Ey elastomers using a simple synthesis *** strategy stabilizes the PTA chains by constructing multiple non-covalent cross-linked dynamic networks,endowing materials with excellent strength and toughness(tensile strength of 288 kPa,toughness of 278.2 kJ/m3),admirable self-healing properties(self-healing efficiency of 121.6%within 7 h at 70℃),and good *** PAx Ey elastomers can also be combined with MWNTs to become flexible strain sensors,which can be used to monitor human joint movements with high sensitivity,repeatable responses,and stability.

关键词： Thioctic acid Ion clusters Multiple dynamic networks Self-healing strengthening Flexible strain sensor

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Impact of climate and human activity on NDVI of various vegetation types in the Three-River Source Region, China

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Journal of Arid Land 2024年第8期16卷 1080-1097页

作者： LU qing KANG Haili ZHANG Fuqing XIA yuanping YAN bing Research Center of Resource and Environment Economics East China University of TechnologyNanchang 330013China Jiangxi Key Laboratory of Watershed Ecological Process and Information East China University of TechnologyNanchang 330013China School of Surveying and Geoinformation Engineering East China University of TechnologyNanchang 330013China Nanchang Key Laboratory of Landscape Process and Territorial Spatial Ecological Restoration East China University of TechnologyNanchang 330013China Institute of Energy Research Jiangxi Academy of SciencesNanchang 330096China

The Three-River Source Region(TRSR)in China holds a vital position and exhibits an irreplaceable strategic importance in ecological preservation at the national *** the basis of an in-depth study of the vegetation evolution in the TRSR from 2000 to 2022,we conducted a detailed analysis of the feedback mechanism of vegetation growth to climate change and human activity for different vegetation *** the growing season,the spatiotemporal variations of normalized difference vegetation index(NDVI)for different vegetation types in the TRSR were analyzed using the Moderate Resolution Imaging Spectroradiometer(MODIS)-NDVI data and meteorological data from 2000 to *** addition,the response characteristics of vegetation to temperature,precipitation,and human activity were assessed using trend analysis,partial correlation analysis,and residual *** indicated that,after in-depth research,from 2000 to 2022,the TRSR's average NDVI during the growing season was *** preliminary ranking of the average NDVI for different vegetation types was as follows:shrubland(0.5762)>forest(0.5443)>meadow(0.4219)>highland vegetation(0.2223)>steppe(0.2159).The NDVI during the growing season exhibited a fluctuating growth trend,with an average growth rate of 0.0018/10a(P<0.01).Notably,forests displayed a significant development trend throughout the growing season,possessing the fastest rate of change in NDVI(0.0028/10a).Moreover,the upward trends in NDVI for forests and steppes exhibited extensive spatial distributions,with significant increases accounting for 95.23%and 93.80%,*** sensitivity to precipitation was significantly enhanced in other vegetation types other than highland *** contrast,steppes,meadows,and highland vegetation demonstrated relatively high vulnerability to temperature fluctuations.A further detailed analysis revealed that climate change had a significant positive impact on the TRSR from 2000 to 2022,particularly in its

关键词： growing season normalized difference vegetation index(NDVI) highland vegetation trend analysis partial correlation analysis residual analysis contribution rate

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PVP/PAN-derived porous carbon fiber for zinc-ion hybrid supercapacitors

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Rare Metals 2024年第7期43卷 3066-3073页

作者： Shu-Hua Yang Wen-qing Fu Yan-Wei Cui bing-Qiang Cao Materials Center for Energy and Photoelectrochemical Conversion School of Material Science and EngineeringUniversity of JinanJinan 250022China

Porous carbon fibers are promising cathodes for zinc-ion hybrid supercapacitors(ZHSs)owing to their abundant active sites,great conductivity,and stable physical and chemical ***,designing a proper preparation technique to regulate the microstructure of carbon fibers still remains a great ***,a poly vinylpyrrolidone/po-lyacry lonitrile(PVP/PAN)-derived porous carbon fiber is developed via the PVP/PAN blend electrospinning and hydrothermal selective PVP removal *** hydrothermal selective PVP removal strategy can effectively avoid a cross-linking between PVP and PAN during the traditional stabilization at air *** PVP/PAN-derived porous carbon fiber,the sufficient micropores provide abundant space for the Zn^(2+)storage,whereas the proper mesopores contribute to the fast ion *** hierarchical porous structures endow ZHSs with high specific capacity and high-rate *** ZHS assembled with the optimal PVP/PAN-derived porous carbon fiber(PVP-PANC-0.8)displays an outstanding specific capacity of 208 mAh·g^(-1),high rate capability(49.5%)from 0.5 to 5 A·g^(-1),and 72.25%capacity retention after 10,000 cycles at 0.5 A·g^(-1).

关键词： Zinc-ion hybrid supercapacitors Porous carbon fibers Hierarchical porous structures Electrospinning

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Escape probability for isotropic emitters near Kerr black hole with astrometric

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Communications in Theoretical Physics 2024年第5期76卷 128-133页

作者： yu-Xuan Han qing-Hua Zhu qing-Guo Huang CAS Key Laboratory of Theoretical Physics Institute of Theoretical PhysicsChinese Academy of SciencesBeijing 100190China School of Physical Sciences University of Chinese Academy of SciencesNo.19A Yuquan RoadBeijing 100049China Department of Physics Chongqing UniversityChongqing 401331China School of Fundamental Physics and Mathematical Sciences Hangzhou Institute for Advanced Study UCASHangzhou 310024China

The paper investigates the escape probability for isotropic emitters near a Kerr black *** propose a new approach to obtain the escape probability in a general manner,going beyond previous case-by-case *** approach is based on studies of the black hole shadow with astrometric observable and can be applied to emitters with an arbitrary 4-velocities and locations,even to the emitters outside of the equatorial *** also consider representative examples illustrating how escape probabilities vary with distance,velocity,and inclination ***,this new approach provides an effective method for studying escape probabilities near Kerr black holes.

关键词： Kerr black hole photon escape probability isotropic emitters

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Physics of cavitation near particles

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Journal of Hydrodynamics 2024年第1期36卷 102-118页

作者： Jia-xin yu Xiao-yu Wang Jun-wei Shen Jin-sen Hu Xiang-qing Zhang Da-qing He yu-ning Zhang Key Laboratory of Power Station Energy Transfer Conversion and System(Ministry of Education) School of Energy Power and Mechanical EngineeringNorth China Electric Power UniversityBeijing102206China

The combined effect of cavitation and silt abrasion presents a great challenge and threat to secure the operation and the efficiency of hydraulic machineries working in sediment-laden *** present paper critically reviews the current research progress on the interaction mechanisms of the bubbles and the ***,the analytical models including boundary treatment methods for predicting the jet dynamics of the bubble collapse near particles are ***,the bubble collapsing dynamics,jet dynamics and shock wave characteristics near particles are revealed both experimentally and ***,the bubble-particle-wall system is investigated with a focus on microjets.

关键词： Cavitation bubble particle jet shock wave

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A comprehensive review on microchannel heat sinks for electronics cooling

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International Journal of Extreme Manufacturing 2024年第2期6卷 133-162页

作者： Zhi-Qiang yu Mo-Tong Li bing-Yang Cao Key Laboratory for Thermal Science and Power Engineering of Ministry of Education Department of Engineering MechanicsTsinghua UniversityBeijing 100084People’s Republic of China

The heat generation of electronic devices is increasing dramatically,which causes a serious bottleneck in the thermal management of electronics,and overheating will result in performance deterioration and even device *** the development of micro-machining technologies,the microchannel heat sink(MCHS)has become one of the best ways to remove the considerable amount of heat generated by high-power *** has the advantages of large specific surface area,small size,coolant saving and high heat transfer *** paper comprehensively takes an overview of the research progress in MCHSs and generalizes the hotspots and bottlenecks of this *** heat transfer mechanisms and performances of different channel structures,coolants,channel materials and some other influencing factors are ***,this paper classifies the heat transfer enhancement technology and reviews the related studies on both the single-phase and phase-change flow and heat *** comprehensive review is expected to provide a theoretical reference and technical guidance for further research and application of MCHSs in the future.

关键词： microchannel heat sink thermal management of electronics microscale heat transfer heat transfer enhancement

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Real-time arrival picking of rock microfracture signals based on convolutional-recurrent neural network and its engineering application

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第3期16卷 761-777页

作者： bing-Rui Chen Xu Wang Xinhao Zhu qing Wang Houlin Xie State Key Laboratory of Geomechanics and Geotechnical Engineering Institute of Rock and Soil MechanicsChinese Academy of SciencesWuhan430071China University of Chinese Academy of Sciences Beijing100049China

Accurately picking P-and S-wave arrivals of microseismic(MS)signals in real-time directly influences the early warning of rock mass failure.A common contradiction between accuracy and computation exists in the current arrival picking ***,a real-time arrival picking method of MS signals is constructed based on a convolutional-recurrent neural network(CRNN).This method fully utilizes the advantages of convolutional layers and gated recurrent units(GRU)in extracting short-and long-term features,in order to create a precise and lightweight arrival picking ***,the synthetic signals with field noises are used to evaluate the hyperparameters of the CRNN model and obtain an optimal CRNN *** actual operation on various devices indicates that compared with the U-Net method,the CRNN method achieves faster arrival picking with less performance *** application of large underground caverns in the Yebatan hydropower station(YBT)project shows that compared with the short-term average/long-term average(STA/LTA),Akaike information criterion(AIC)and U-Net methods,the CRNN method has the highest accuracy within four sampling points,which is 87.44%for P-wave and 91.29%for S-wave,*** sum of mean absolute errors(MAESUM)of the CRNN method is 4.22 sampling points,which is lower than that of the other *** the four methods,the MS sources location calculated based on the CRNN method shows the best consistency with the actual failure,which occurs at the junction of the shaft and the second ***,the proposed method can pick up P-and S-arrival accurately and rapidly,providing a reference for rock failure analysis and evaluation in engineering applications.

关键词： Rock mass failure Microseismic event P-wave arrival S-wave arrival Deep learning

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