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The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa

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Asian Journal of Andrology 2024年第1期26卷 107-111页

作者： Liu Liu jing yang Wen-jing Zhang Yi-Ling Zhou Gui-Jun Zhao Ya Huang Shu-yan tang Obstetrics and Gynecology Hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development Department of Computational BiologySchool of Life SciencesFudan UniversityShanghai 200436China Shanghai Towako Hospital Shanghai 200131China Shanghai Institute of Medical Genetics Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200040China

Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to date.While several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately described.Here,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated spermatozoa.The analysis revealed a novel homozygous c.520A>G(p.Thr174Ala)variant in the archaelysin family metallopeptidase 2(AMZ2),a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and sperm.Multiple algorithms predicted this variant to be a damaging mutation.Consistent with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental carriers.To investigate the potential pathogenicity of the identified variant,we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy control.Immunoblot analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the spermatozoa.Our findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

Strengthening pharmacotherapy research for COVID-19-induced pulmonary fibrosis

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World Journal of Clinical Cases 2024年第5期12卷 875-879页

作者： yan-Miao Liu jing Zhang jing-jing Wu Wei-Wei Guo Fu-Shan tang The First Clinical Institute Zunyi Medical UniversityZunyi 563006Guizhou ProvinceChina Key Laboratory of Clinical Pharmacy in Zunyi City Zunyi Medical UniversityZunyi 563006Guizhou ProvinceChina Department of Respiratory Medicine Central Hospital in Jinchang CityJinchang 737102Gansu ProvinceChina Department of Clinical Pharmacy Key Laboratory of Basic Pharmacology of Guizhou Province and School of PharmacyZunyi Medical UniversityZunyi 563006Guizhou ProvinceChina Key Laboratory of Basic Pharmacology of Ministry of Education and Joint International Research Laboratory of Ethnomedicine of Ministry of Education Zunyi Medical UniversityZunyi 563006Guizhou ProvinceChina

The global spread of severe acute respiratory syndrome coronavirus 2 has resulted in a significant number of individuals developing pulmonary fibrosis(PF),an irreversible lung injury.This condition can manifest within a short inter-val following the onset of pneumonia symptoms,sometimes even within a few days.While lung transplantation is a potentially lifesaving procedure,its limited availability,high costs,intricate surgeries,and risk of immunological rejection present significant drawbacks.The optimal timing of medication administration for coronavirus disease 2019(COVID-19)-induced PF remains controversial.Despite this,it is crucial to explore pharmacotherapy interventions,involving early and preventative treatment as well as pharmacotherapy options for advanced-stage PF.Additionally,studies have demonstrated disparities in anti-fibrotic treatment based on race and gender factors.Genetic mutations may also impact therapeutic efficacy.Enhancing research efforts on pharmacotherapy interventions,while considering relevant pharmacological factors and optimizing the timing and dosage of medication administration,will lead to enhanced,personalized,and fair treatment for individuals impacted by COVID-19-related PF.These measures are crucial in lessening the burden of the disease on healthcare systems and improving patients'quality of life.

关键词： COVID-19 Pulmonary fibrosis Pharmacotherapy intervention Medication administration Timing Dosage

Insight into the role of ethylene glycol on thermodynamics and nucleation kinetics of dimethyl terephthalate in mixed solvent system

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Particuology 2024年第2期85卷 1-12页

作者： Yujin Zhang Chunyan Shi jing tang Li Liu Dongxia yan Qing Zhou Xingmei Lu Songyan Jia College of Chemical Engineering Shenyang University of Chemical TechnologyShenyang110142China Bejing Key Laboratoryoflonic Liquids Clean Process CAS Key LaboratoryofGreen Process and EngineeringState Key Laboratoryof Multiphase Complex SystemsInstitute of Process EngineeringChinese Academy of SciencesBeijing100190China School of Chemistry and Chemical Engineering Qingdao UniversityQingdao266071China Henan Institute of Advanced Technology Zhengzhou UniversityZhengzhou450001China School of Chemical Engineering University of Chinese Academy of SciencesBeijing100049China

Dissolution and nucleation are two essential processes for industrial crystallization.This paper in-vestigates the effect of ethylene glycol addition on the crystallization behavior of dimethyl terephthalate(DMT)in solution.The DMT solubility in mixed solvent system(methanol-ethylene glycol)was deter-mined by isothermal satiation approach,and the solubility was associated using seven models.The model fitting results were consistent with the experimental values.Based on the results,the metastable zone width(MSZW)of DMT was detected by the polythermal approach;the modified Sangwal's theory was used to investigate the nucleation behavior,which can provide a new way of thought for better analysis of the crystallization behavior.The results demonstrated that MSZW was associated with various elements,such as cooling rate,saturation temperature and mass fraction of ethylene glycol.The addition of ethylene glycol slowed down the nucleation rate as shown by the broadening of MSZW.We derive the solid-liquid interface energy,the nucleation driving force,the critical nucleation size and the critical Gibbs free energy according to the classical nucleation theory.It is demonstrated that the nucleation driving force and the solid-liquid interface energy are dependent and jointly influence the MSZW.

关键词： Dissolution Nucleation Solubility Apparent thermodynamic parameters Metastable zone width Solid-liquid interface energy

Geochronology and Geochemistry of Ore-related Granitoids in the Giant Gariatong Rb Deposit,Tibet and Implications for Rb Metallogeny in China

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Acta Geologica Sinica(English Edition) 2024年第1期98卷 83-103页

作者： LIN Bin tang Juxing tang Pan SUN yan QI jing MSANTOSH XIE Jinling DENG Shilin LI Faqiao XIE Fuwei ZHOU Aorigele MNR Key Laboratory of Metallogeny and Mineral Assessment Institute of Mineral ResourcesChinese Academy of Geological SciencesBeijing 100037China SinoProbe Laboratory Chinese Academy of Geological SciencesBeijing 100094China The Key Laboratory of the Ministry of Education on Solid Waste Treatment and Recycling School of Environment and ResourceSouthwest University of Science and TechnologyMianyangSichuan 621010China School of Earth Sciences and Resources China University of Geosciences(Beijing)Beijing 100083China Department of Earth Sciences University of AdelaideAdelaide SA-5005Australia Faculty of Geosciences and Environmental Engineering Southwest Jiaotong UniversityChengdu 610031China Regional Geological Survey Team of the Tibetan Bureau of Geology and Mineral Exploration and Development Lhasa 851400China College of Earth Science and Key Laboratory of Tectonic Controlled Mineralization and Oil Reservoirs Chengdu University of TechnologyChengdu 610059China

Rubidium(Rb)deposits mostly occur in the South China and Central Asia orogenic belts and are often closely associated with highly differentiated granites.This study investigates a newly-discovered giant Rb deposit at Gariatong in the Central Lhasa terrane in Tibet.Detailed field studies and logging data revealed that the Rb mineralization mainly occurs in monzogranite and is related to greisenization.LA-ICP-MS U-Pb dating of zircon yielded ages of 19.1±0.2 Ma and 19.0±0.2 Ma for greisenized monzogranite and fresh monzogranite,respectively.The monzogranites are characterized as strongly peraluminous,with high contents of SiO2,Al2O3,K2O and Na2O as well as a high differentiation index.They are enriched in light rare earth and large ion lithophile elements with significant negative Eu anomalies and depleted high fieldstrength elements.Petrological and geochemical features of these ore-related monzogranites suggest that they are highly fractionated S-type granites,derived from remelting of crustal materials in a post-collisional setting.The geochemistry of zircon and apatite points to a low oxygen fugacity of the ore-related monzogranite during the magma’s evolution.The discovery of the Gariatong Rb deposit suggests that the Central Lhasa terrane may be an important region for rare metal mineralization.

关键词： LA-ICP-MS U-Pb dating geochemistry Rb metallogeny Gariatong Tibet

Recent Advances in Mechanistic Understanding of Metal-Free Carbon Thermocatalysis and Electrocatalysis with Model Molecules

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Nano-Micro Letters 2024年第7期16卷 74-97页

作者： Wei Guo Linhui Yu Ling tang yan Wan yangming Lin CAS Key Laboratory of Design and Assembly of Functional Nanostructures Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002People’s Republic of China Xiamen Key Laboratory of Rare Earth Photoelectric Functional Materials Xiamen Institute of Rare Earth MaterialsHaixi InstituteChinese Academy of SciencesXiamen 361021People’s Republic of China State Key Laboratory of Structural Chemistry Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002People’s Republic of China Institute of Urban Environment Chinese Academy of SciencesXiamen 361021People’s Republic of China

Metal-free carbon,as the most representative heterogeneous metal-free catalysts,have received considerable interests in electro-and thermo-catalytic reac-tions due to their impressive performance and sustainability.Over the past decade,well-designed carbon catalysts with tunable structures and heteroatom groups coupled with various characterization techniques have proposed numerous reaction mechanisms.However,active sites,key intermediate species,precise structure-activity relationships and dynamic evolution processes of carbon catalysts are still rife with controversies due to the monotony and limitation of used experimental methods.In this Review,we sum-marize the extensive efforts on model catalysts since the 2000s,particularly in the past decade,to overcome the influences of material and structure limitations in metal-free carbon catalysis.Using both nanomolecule model and bulk model,the real contribution of each alien species,defect and edge configuration to a series of fundamentally important reactions,such as thermocatalytic reactions,electrocatalytic reactions,were systematically studied.Combined with in situ techniques,isotope labeling and size control,the detailed reaction mechanisms,the precise 2D structure-activity relationships and the rate-determining steps were revealed at a molecular level.Furthermore,the outlook of model carbon catalysis has also been proposed in this work.

关键词： Metal-free carbon catalysts Model catalyst Electrocatalysis Active site Reaction mechanisms

Model-driven path planning for robotic plasma cutting of branch pipe with single Y-groove based on pipe-rotating scheme

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Advances in Manufacturing 2024年第1期12卷 94-107页

作者： yan Liu Qiu tang Xin-Cheng Tian School of Control Science and Engineering Shandong UniversityJinan250061People’s Republic of China Engineering Research Center of Intelligent Unmanned System Ministry of EducationJinan250061People’s Republic of China School of Mechanical and Electronic Engineering Shandong Jianzhu UniversityJinan250101People’s Republic of China

The automatic cutting of intersecting pipes is a challenging task in manufacturing.For improved automation and accuracy,this paper proposes a model-driven path planning approach for the robotic plasma cutting of a branch pipe with a single Y-groove.Firstly,it summarizes the intersection forms and introduces a dual-pipe intersection model.Based on this model,the moving three-plane structure(a description unit of the geometric characteristics of the intersecting curve)is constructed,and a geometric model of the branch pipe with a single Y-groove is defined.Secondly,a novel mathematical model for plasma radius and taper compensation is established.Then,the compensation model and groove model are integrated by establishing movable frames.Thirdly,to prevent collisions between the plasma torch and workpiece,the torch height is planned and a branch pipe-rotating scheme is proposed.Through the established models and moving frames,the planned path description of cutting robot is provided in this novel scheme.The accuracy of the proposed method is verified by simulations and robotic cutting experiments.

关键词： Automatic groove cutting of intersecting pipes Model-driven robot path planning Plasma beam radius and taper compensation

Prefrontocortical Astrocytes Regulate Dominance Hierarchy in Male Mice

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Neuroscience Bulletin 2024年第3期40卷 415-417页

作者： Yong tang Hai-yan Yin Peter Illes School of Acupuncture and Tuina Chengdu University of Traditional Chinese MedicineChengdu 610075China International Joint Research Center on Purinergic Signaling Chengdu University of Traditional Chinese MedicineChengdu 610075China Rudolf Boehm Institute for Pharmacology and Toxicology University of Leipzig04107 LeipzigGermany

Social hierarchy is a general self-organizational scheme in animal societies in which each member achieves a certain status of domination or subordination when getting access to resources,with profound consequences for survival,health,reproductive success,and multiple behaviors[1,2].The prefrontal cortex(PFC)was recognized as a central regulator of neuronal circuits determining the formation of social hierarchy;brain areas upstream of the PFC convey information about social status,and downstream brain regions execute dominance behavior[3].Social deficits have been suggested to be due to an elevation of excitatory/inhibitory(E/l)balance within the mouse dorsomedial(dm)PFC[4].A compensatory increase of inhibitory cell excitability partially rescued social deficits caused by such a disturbance of E/l balance.

关键词： consequences hierarchy determining

Reputation-based joint optimization of user satisfaction and resource utilization in a computing force network

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Frontiers of Information Technology & Electronic Engineering 2024年第5期25卷 685-700页

作者： Yuexia FU jing WANG Lu LU Qinqin tang Sheng ZHANG China Mobile Research Institute Beijing 100053China Purple Mountain Laboratories Nanjing 211111China China Mobile Communications Corporation Beijing 100033China

Under the development of computing and network convergence,considering the computing and network resources of multiple providers as a whole in a computing force network(CFN)has gradually become a new trend.However,since each computing and network resource provider(CNRP)considers only its own interest and competes with other CNRPs,introducing multiple CNRPs will result in a lack of trust and difficulty in unified scheduling.In addition,concurrent users have different requirements,so there is an urgent need to study how to optimally match users and CNRPs on a many-to-many basis,to improve user satisfaction and ensure the utilization of limited resources.In this paper,we adopt a reputation model based on the beta distribution function to measure the credibility of CNRPs and propose a performance-based reputation update model.Then,we formalize the problem into a constrained multi-objective optimization problem and find feasible solutions using a modified fast and elitist non-dominated sorting genetic algorithm(NSGA-II).We conduct extensive simulations to evaluate the proposed algorithm.Simulation results demonstrate that the proposed model and the problem formulation are valid,and the NSGA-II is effective and can find the Pareto set of CFN,which increases user satisfaction and resource utilization.Moreover,a set of solutions provided by the Pareto set give us more choices of the many-to-many matching of users and CNRPs according to the actual situation.

关键词： Computing force network Resource scheduling Performance-based reputation User satisfaction

Changes in renal function and morphological variations of kidney diseases in rheumatoid arthritis patients

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Asian Journal of Urology 2024年第2期11卷 304-310页

作者： yan tang Yuliya Varavko Raisa Aringazina Irina Menshikova College of Medical Technology Yongzhou Vocational Technical CollegeYongzhouChina Department of Internal Diseases Propaedeutics Irkutsk State Medical UniversityIrkutskRussian Federation Department of Internal Diseases No.1 Non-Commercial Joint-Stock Society“West Kazakhstan Marat Ospanov Medical University”AktobeKazakhstan Department of Hospital Therapy No.1 I.M.Sechenov First Moscow State Medical University of Ministry of Health of Russian Federation(Sechenov University)MoscowRussian Federation

Objective:Rheumatoid nephropathy is one of the most severe extra-articular manifestations of rheumatoid arthritis(RA)associated with a very unfavorable prognosis.This study aimed to identify changes in renal function and morphological variations of kidney diseases in RA patients.Methods:The study enrolled patients(126 patients)between 18 and 55 years of age with a confirmed active RA of more than 12 months.Each patient underwent the following range of laboratory and instrumental research methods:general clinical analysis of blood and urine,performing urinalysis according to Nechiporenko method;determining daily proteinuria;determining the blood content of glucose,urea,creatinine,uric acid,total bilirubin,liver transaminase level,ionogram,lipidogram,and coagulogram;determining the blood content of rheumatoid factor,anti-streptolysin O,and C-reactive protein;and X-ray of the joints of hands and feet.Renal function was examined by estimating glomerular filtration rate,tubular reabsorption index,and renal functional reserve.For studying the morphological changes in the kidneys under ultrasound examination,renal biopsy was performed in 31 patients with RA with urinary syndrome(proteinuria more than 0.3 g per day and hematuria).Results:Nephropathy in RA is characterized by impaired renal function and manifested by an increased blood creatinine and a decrease in glomerular filtration rate and renal functional reserve.Among morphological variations of nephropathy at RA,mesangial proliferative glomerulonephritis prevails,accounting for 48.4%of patients.Other disorders include the secondary amyloidosis(29.0%of patients),tubulointerstitial nephritis(16.1%),membranous glomerulonephritis(3.2%),and focal-segmental glomerulosclerosis(3.2%).Conclusion:Kidney damage is a common systemic manifestation of RA with a long and active course,a major nephropathy trigger.

关键词： Rheumatoid nephropathy Secondaryrenal amyloidosis Mesangial proliferative glomerulonephritis Renal functional reserve