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Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta‑hydroxylase deficiency

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World Journal of Pediatrics 2024年第4期20卷 422-433页

作者： Wen‑li Lu Xiao‑Yu Ma Jiao zhang Jun‑Qi Wang Ting‑Ting zhang Lei Ye Yuan Xiao Zhi‑Ya Dong Wei Wang Shou‑Yue Sun Chuan‑Yin li Rong‑Gui Hu Guang Ning li‑dan zhang Department of Pediatrics Ruijin HospitalShanghai Jiao Tong University School of MedicineNo.197Ruijin 2nd RdHuangpu DistrictShanghai 200025China Department of Pediatric Genetic and Metabolic Endocrinology West China Second University HospitalSichuan UniversityNo.20Section 3Renmin South RoadSichuan 610041China Department of Endocrine and Metabolic Diseases Shanghai Clinical Center for Endocrine and Metabolic DiseasesRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Cancer Center School of MedicineShanghai Tenth People’s HospitalTongji UniversityYanchang Zhong Lu 301St RdJing’an DistrictShanghai 200031China

Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase *** this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal *** Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively *** examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of *** We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were *** patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 *** most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>*** mutations lead to spatial conformational changes that affect protein *** Our study found that there was no significant correlation between each specific mutation and the severity of clinical *** patients with the same gene pathogenic variant may have mild or severe clinical *** correlation between genotype and phenotype needs further ***-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.

关键词： 11β-hydroxylase deficiency CYP11B1 Enzymatic activity Phenotype-genotype correlation Threedimensional protein simulations

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SIMULATIONS OF THE THREE-DIMENSIONAL TOTAL DISSOLVED GAS SATURATION DOWNSTREAM OF SPILLWAYS UNDER UNSTEADY CONDITIONS

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Journal of Hydrodynamics 2010年第4期22卷 598-604页

作者： FU Xiao-li li dan zhang Xiao-feng State Key Laboratory of Water Resources and Hydropower Engineering Science Wuhan University Wuhan 430072 China

Dams are often operated in a way to discharge over the spillways,which would cause a high dissolved concentration of air and be harmful to *** bubble transfer and the water surface transfer play an important role in affecting the concentration of the Total Dissolved Gas（TDG）.Based on recent numerical simulations of the total dissolved gas saturation,in this article,a two-phase TDG transport equation is adopted to develop an unsteady three-dimensional（3-D） two-phase flow Computational Fluid Dynamics（CFD） model,including a number of parameters such as water depth,pressure and air volume *** model is used to predict the hydrodynamics and the TDG distribution under unsteady discharge *** agreement between measured and numerical results is obtained for a case study.

关键词： gas supersaturation anisotropic two-phase flow

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A Modified Surgical Technique Using Levator Aponeurosis-MiJller Muscle Complex to Correct Mild-to-Moderate Blepharoptosis

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Chinese Medical Journal 2018年第17期131卷 2117-2118页

作者： Yi Pu Zheng-Yong li li-dan zhang Ying Cen Department of Burn and Reconstructive Surgery West China Hospital West China School of Medicine Sichuan University Chengdu Sichuan 610041 China

To the Editor： Blepharoptosis is a disease commonly seen in the Asian population, defined as an abnormal lower upper eyelid margin that is 〈2.0 mm above the midpoint of the pupil when a person looks straightforward.

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Interface Engineering of Titanium Nitride Nanotube Composites for Excellent Microwave Absorption at Elevated Temperature

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Nano-Micro Letters 2024年第9期16卷 147-160页

作者： Cuiping li dan li Shuai zhang Long Ma Lei zhang Jingwei zhang Chunhong Gong College of Chemistry and Molecular Sciences Henan UniversityKaifeng 475004People’s Republic of China National and Local Joint Engineering Research Center for Applied Technology of Hybrid Nanomaterials Henan UniversityKaifeng 475004People’s Republic of China

Currently,the microwave absorbers usually suffer dreadful electromagnetic wave absorption(EMWA)performance damping at elevated temperature due to impedance mismatching induced by increased conduction ***,the development of high-performance EMWA materials with good impedance matching and strong loss ability in wide temperature spectrum has emerged as a top ***,due to the high melting point,good electrical conductivity,excellent environmental stability,EM coupling effect,and abundant interfaces of titanium nitride(TiN)nanotubes,they were designed based on the controlling kinetic diffusion procedure and Ostwald ripening *** from boosted heterogeneous interfaces between TiN nanotubes and polydimethylsiloxane(PDMS),enhanced polarization loss relaxations were created,which could not only improve the depletion efficiency of EMWA,but also contribute to the optimized impedance matching at elevated ***,the TiN nanotubes/PDMS composite showed excellent EMWA performances at varied temperature(298-573 K),while achieved an effective absorption bandwidth(EAB)value of 3.23 GHz and a minimum reflection loss(RLmin)value of−44.15 dB at 423 *** study not only clarifies the relationship between dielectric loss capacity(conduction loss and polarization loss)and temperature,but also breaks new ground for EM absorbers in wide temperature spectrum based on interface engineering.

关键词： TiN nanotubes Interface engineering Polarization loss Impedance matching Electromagnetic wave absorption performance

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Flexible regulation engineering of titanium nitride nanofibrous membranes for efficient electromagnetic microwave absorption in wide temperature spectrum

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Nano Research 2024年第3期17卷 1666-1675页

作者： Cuiping li Lu zhang Shuai zhang Qiqi Yu dan li Lei zhang Chunhong Gong Jingwei zhang Institute of Functional Polymer Composites College of Chemistry and Molecular SciencesHenan UniversityKaifeng 475004China National&Local Joint Engineering Research Center for Applied Technology of Hybrid Nanomaterials Henan UniversityKaifeng 475004China

Simultaneous development of well impedance matching and strong loss capability has become a mainstream method for achieving outstanding electromagnetic microwave absorption(EMWA)performances over wide temperature ***,it is difficult to pursue both due to the mutual restraint of relationship between impedance matching and loss capability about ***,we propose a flexible regulation engineering of titanium nitride(TiN)nanofibrous membranes(NMs,TNMs),which could be distributed uniformly in the polydimethylsiloxane(PDMS)matrix and contributed to the formation of abundant local conductive networks,generating the local conductive loss and enhancing the loss ability of ***,when the TNMs are used as functional units and dispersed in the matrix,the corresponding composites exhibit an outstanding anti-reflection effect on *** hoped,under the precondition of good impedance matching,local conductive loss and polarization loss together improve the loss capacity at room temperature,and polarization loss can compensate the local conductive loss to acquire effective dielectric response at elevated *** from the reasonably synergistic loss ability caused by flexible regulation engineering,the corresponding composites exhibit the perfect EMWA performances in a wide temperature range from 298 to 573 *** work not only elaborates the ponderable insights of independent membrane in the composition-structure-function connection,but also provides a feasible tactic for resolving coexistence of well impedance matching and strong loss capability issues in wide temperature spectrum.

关键词： flexible titanium nitride nanofibrous membranes local conductive loss dielectric loss electromagnetic microwave absorption wide temperature spectrum

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All roads lead to Rome-a review of the potential mechanisms by which exerkines exhibit neuroprotective effects in Alzheimer’s disease

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Neural Regeneration Research 2022年第6期17卷 1210-1227页

作者： Yi-Yao liang li-dan zhang Xi Luo li-li Wu Zhao-Wei Chen Guang-Hao Wei Kai-Qing zhang Ze-An Du Ren-Zhi li Kwok-Fai So Ang li Guangdong-Hong Kong-Macao Institute of CNS Regeneration Jinan UniversityGuangzhouGuangdong ProvinceChina Key Laboratory of CNS Regeneration(Jinan University) Ministry of EducationGuangzhouGuangdong ProvinceChina Department of Medical Ultrasonics Third Affiliated Hospital of Sun Yat-sen UniversityGuangzhouGuangdong ProvinceChina Guangdong Key Laboratory of liver Disease Research Sun Yat-sen UniversityGuangzhouGuangdong ProvinceChina Department of Clinical Medicine School of MedicineJinan UniversityGuangzhouGuangdong ProvinceChina Department of Clinical Medicine International SchoolJinan UniversityGuangzhouGuangdong ProvinceChina International Department of the Affiliated High School of South China Normal University GuangzhouGuangdong ProvinceChina Bioland Laboratory(Guangzhou Regenerative Medicine and Health Guangdong Laboratory) GuangzhouGuangdong ProvinceChina Co-Innovation Center of Neuroregeneration Nantong UniversityNantongJiangsu ProvinceChina

Age-related neurodegenerative disorders such as Alzheimer’s disease(AD)have become a critical public health issue due to the significantly extended human lifespan,leading to considerable economic and social *** therapies for AD such as medicine and surgery remain ineffective,impractical,and *** studies have shown that a variety of bioactive substances released by physical exercise(called“exerkines”)help to maintain and improve the normal functions of the brain in terms of cognition,emotion,and psychomotor *** evidence suggests that exerkines may exert beneficial effects in AD as *** review summarizes the neuroprotective effects of exerkines in AD,focusing on the underlying molecular mechanism and the dynamic expression of exerkines after physical *** findings described in this review will help direct research into novel targets for the treatment of AD and develop customized exercise therapy for individuals of different ages,genders,and health conditions.

关键词： Alzheimer’s disease amyloid beta central nervous system exerkine neurodegeneration neuroinflammation neuroprotection oxidative stress physical exercise Tau protein

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A phase-field model for simulating the propagation behavior of mixed-mode cracks during the hydraulic fracturing process in fractured reservoirs

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Applied Mathematics and Mechanics(English Edition) 2024年第5期45卷 911-930页

作者： dan zhang liangping YI Zhaozhong YANG Jingqiang zhang Gang CHEN Ruoyu YANG Xiaogang li State Key Laboratory of Oil and Gas Reservoir Geology and Exploitation Southwest Petroleum UniversityChengdu 610500China State Key Laboratory of Oil and Gas Reservoir Geology and Exploitation Chengdu University of TechnologyChengdu 610059China Tarim Oilfield Company PetroChinaBayingolin Mongolian Autonomous Prefecture 841000Xinjiang Uygur Autonomous RegionChina Wuqi Oil Production Plant Shaanxi Yanchang PetroleumXi'an 716000China Exploration Division of PetroChina Southwest Oil and Gasfield Company Chengdu 610041China

A novel phase-field model for the propagation of mixed-mode hydraulic fractures,characterized by the formation of mixed-mode fractures due to the interactions between fluids and solids,is *** this model,the driving force for the phase field consists of both tensile and shear components,with the fluid contribution primarily manifesting in the tension driving *** displacement and pressure are solved simultaneously by an implicit *** numerical solution's iterative format is established by the finite element discretization and Newton-Raphson(NR)iterative *** correctness of the model is verified through the uniaxial compression physical experiments on fluid-pressurized rocks,and the limitations of the hydraulic fracture expansion phase-field model,which only considers mode I fractures,are *** addition,the influence of matrix mode II fracture toughness value,natural fracture mode II toughness value,and fracturing fluid injection rate on the hydraulic fracture propagation in porous media with natural fractures is studied.

关键词： mixed-mode crack hydraulic fracturing poro-elasticity phase-field method(PFM)

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Animal Modelling of Lumbar Corpectomy and Fusion and in vivo Growth of Spine Supporting Bone by Titanium Cage Implants: An Experimental Study

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Journal of Bionic Engineering 2010年第4期7卷 329-336页

作者： Qingxian Hou,Qingsan Zhu,Yuntao Wu,Ran li,dan li,Yunfeng zhang,Qing Ruan First Hospital of Jilin University,Changchun 130021,P.R.China First Hospital of Jilin University Changchun P. R. China

In this study a lumbar spinal fusion animal model is established to assess the effect of spinal fusion cage,and explore theminimum area ratio of titanium cage section to vertebral section that ensures bone healing and biomechanical *** was conducted by posterolateral approach with titanium cage implantation combined with plate *** with the same length but different diameters were *** implantation of titanium cages,the progress of bone healingwas observed and the bone biomechanical properties were measured,including deformation and displacement in axial compression,flexion,extension,and lateral bending *** factors affecting the in vivo growth of spine supporting body *** results show that the area ratio of titanium cage section to vertebral section should reach 1/2 to ensure the bonehealing,sufficient bone intensity and biomechanical *** bone healing indicators,such as BMP,suggest that there isa relationship between the peak time and the peak value of bone formation and metabolism markers and the bone healing strength.

关键词： lumbar corpectomy titanium cage implantation spinal fusion biomechanics bone metabolism markers

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Bronchoalveolar lavage fluid assessment facilitates precision medicine for lung cancer

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Cancer Biology & Medicine 2024年第3期21卷 230-251页

作者： Hantao zhang dan Deng Shujun li Jing Ren Wei Huang dan liu Weiya Wang Department of Pathology West China HospitalSichuan UniversityChengdu 610000China West China Biobank West China HospitalSichuan UniversityChengdu 610000China Department of Respiratory and Critical Care Medicine Clinical Research Center for Respiratory DiseaseWest China HospitalSichuan UniversityChengdu 610000China

Lung cancer is the most common and fatal malignant disease worldwide and has the highest mortality rate among tumor-related causes of *** diagnosis and precision medicine can significantly improve the survival rate and prognosis of lung cancer *** present,the clinical diagnosis of lung cancer is challenging due to a lack of effective non-invasive detection methods and biomarkers,and treatment is primarily hindered by drug resistance and high tumor *** biopsy is a method for detecting circulating biomarkers in the blood and other body fluids containing genetic information from primary tumor *** lavage fluid(BALF)is a potential liquid biopsy medium that is rich in a variety of bioactive substances and cell *** contains information on the key characteristics of tumors,including the tumor subtype,gene mutation type,and tumor environment,thus BALF may be used as a diagnostic supplement to lung *** this review,the current research on BALF in the diagnosis,treatment,and prognosis of lung cancer is *** advantages and disadvantages of different components of BALF,including cells,cell-free DNA,extracellular vesicles,and micro RNA are *** particular,the great potential of extracellular vesicles in precision diagnosis and detection of drug-resistant for lung cancer is *** addition,the performance of liquid biopsies with different body fluid sources in lung cancer detection are compared to facilitate more selective studies involving BALF,thereby promoting the application of BALF for precision medicine in lung cancer patients in the future.

关键词： Lung cancer bronchoalveolar lavage fluid extracellular vesicles liquid biopsy precision medicine

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Weakly-supervised instance co-segmentation via tensor-based salient co-peak search

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Frontiers of Computer Science 2024年第2期18卷 83-92页

作者： Wuxiu QUAN Yu HU Tingting dan Junyu li Yue zhang Hongmin CAI School of Computer Science Guangdong Polytechnic Normal UniversityGuangzhou 510665China School of Computer Science and Engineering South China University of TechnologyGuangzhou 510006China

Instance co-segmentation aims to segment the co-occurrent instances among two *** task heavily relies on instance-related cues provided by co-peaks,which are generally estimated by exhaustively exploiting all paired candidates in point-to-point ***,such patterns could yield a high number of false-positive co-peaks,resulting in over-segmentation whenever there are mutual *** tackle with this issue,this paper proposes an instance co-segmentation method via tensor-based salient co-peak search(TSCPS-ICS).The proposed method explores high-order correlations via triple-to-triple matching among feature maps to find reliable co-peaks with the help of co-saliency *** proposed method is shown to capture more accurate intra-peaks and inter-peaks among feature maps,reducing the false-positive rate of co-peak *** having accurate co-peaks,one can efficiently infer responses of the targeted *** on four benchmark datasets validate the superior performance of the proposed method.

关键词： weakly-supervised co-segmentation co-peak tensormatching deep network instance segmentation

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