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Recent advances in the genetics of testicular failure

Asian Journal of Andrology 2016年第3期18卷 350-355页

作者： seung-hun song Koji Chiba Ranjith Ramasamy Dolores J Lamb Center for Reproductive Medicine Baylor College of Medicine Houston Texas USA Scott Department of Urology Baylor College of Medicine Houston lexas USA Department of Urology Miller School of Medicine University of Miami FL USA.

Infertility affects approximately 15% of couples, and male factor is responsible for 30%-50% of all infertility. The most severe form of male infertility is testicular failure, and the typical phenotype of testicular failure is severely impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Although the etiology of testicular failure remains poorly understood, genetic factor typically is an underlying cause. Modern assisted reproductive techniques have revolutionized the treatment of male factor infertility, allowing biological fatherhood to be achieved by many men who would otherwise have been unable to become father to their children through natural conception. Therefore, identifying genetic abnormalities in male is critical because of the potential risk of transmission of genetic abnormalities to the offspring. Recently, along with other intense researches ongoing, whole-genome approaches have been used increasingly in the genetic studies of male infertility. In this review, we focus on the genetics of testicular failure and provide an update on the advances in the study of genetics of male *** affects approximately 15% of couples, and male factor is responsible for 30%-50% of all infertility. The most severe form of male infertility is testicular failure, and the typical phenotype of testicular failure is severely impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Although the etiology of testicular failure remains poorly understood, genetic factor typically is an underlying cause. Modern assisted reproductive techniques have revolutionized the treatment of male factor infertility, allowing biological fatherhood to be achieved by many men who would otherwise have been unable to become father to their children through natural conception. Therefore, identifying genetic abnormalities in male is critical because of the potential risk of transmission of genetic abnormalities to the offspring. Recentl

关键词： azoospermia genetics male infertility testicular failure

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The role of vasoepididymostomy for treatment of obstructive azoospermia in the era of in vitro fertilization:a systematic review and meta-analysis

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Asian Journal of Andrology 2019年第1期21卷 67-73页

作者： Young Eun Yoon Hyung Ho Lee Sung Yul Park Hong Sang Moon Dong Suk Kim seung-hun song Dae Keun Kim Department of Urology Hanyang University College of MedicineSeou104763Korea Department of Urology National Health Insurance Corporation Ilsan Hospital Gyeonggi-do 10444Korea Department of Urology Fertility Center of CHA Gangnam Medical CenterCHA UniversitySeou106135Korea Department of Urology CHA Seoul Station Fertility CenterCHA UniversitySeou104637Korea Department of Urology School of MedicineGraduate SchoolHanyang UniversitySeou104763Korea

This study comprises a systematic review and meta-analysis of micmsurgical vasoepididymostomy outcomes in epididymal obstructive azoospermia.A comprehensive literature search was performed using Medline,Embase,and the Cochrane library that included all studies related to microsurgical *** included “vasoepididymostomy,”“epididymovasostomy,”“epididymal obstruction,”and “epididymis obstruction.”Event rate and risk ratio (RR)were *** rate and pregnancy rate were *** analysis comprised 1422 articles,including 42 observational studies with 2298 enrolled patients performed from November 1978 to January *** overall mean patency rate was 64.1%(95%confidence interval [CI]:58.5%-69.3%;F=83.0%),and the overall mean pregnancy rate was 31.1%(95%CI:26.9%-35.7%;I^2=73.0%).We performed a meta-analysis comparing the patency rate of bilateral microsurgical vasoepididymostomy and unilateral microsurgical vasoepididymostomy and found an RR of 1.38%(95%CI: 1.21%-1.57%;P <0.00001).A comparison of the site of microsurgical vasoepididymostomy showed that caudal or corpus area was favorable for patency rate (RR =1.17%;95%CI: 1.01%-1.35%;P =0.04).Patients with motile sperm in epididymal fluid exhibited an RR of 1.53%(95%CI:1.11%-2.13%;P =0.01)with respect to patency rate. Microsurgical vasoepididymostomy is an effective treatment for epididymal obstructive azoospermia that can improve male fertility. We find that performing microsurgical vasoepididymostomy bilaterally,anastomosing a larger caudal area,and containing motile sperm in epididymis fluid can potentially achieve a superior patency rate.

关键词： azoospermia meta-analysis vasoepididymostomy

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The association of stromal antigen 3(STAG3) sequence variations with spermatogenic impairment in the male Korean population

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Asian Journal of Andrology 2020年第1期22卷 106-111页

作者： Yeojung Nam Kyung Min Kang Se Ra Sung Ji Eun Park Yun-Jeong Shin seung hun song Ju Tae Seo Tae Ki Yoon Sung Han Shim Department of Biomedical Science College of Life ScienceCHA UniversitySeongnam 13488Korea Genetics Laboratory Fertility Center of CHA Gangnam Medical CenterCHA UniversitySeoul 06135Korea Department of Urology CHA Gangnam Medical CenterCHA UniversitySeoul 06135Korea Department of Urology Cheil General HospitalSeoul 04619Korea Department of Obstetrics and Gynecology CHA Gangnam Medical CenterSeoul 04637Korea

The stromal antigen 3(STAG3)gene,encoding a meiosis-specific cohesin component,is a strong candidate for causing male infertility,but little is known about this gene so *** identified STAG3 in patients with nonobstructive azoospermia(NOA)and normozoospermia in the Korean *** coding regions and their intron boundaries of STAG3 were identified in 120 Korean men with spermatogenic impairments and 245 normal controls by using direct sequencing and haplotype analysis.A total of 30 sequence variations were identified in this *** the total,seven were exonic variants,18 were intronic variants,one was in the 5’-UTR,and four were in the 3'-*** variations that directly caused NOA were not ***,two variants,c.3669+35C>G(rs1727130)and+198A>T(rs1052482),showed significant differences in the frequency between the patient and control groups(P=0.021,odds ratio[OR]:1.79,95%confidence interval[Cl]:1.098-2.918)and were tightly linked in the linkage disequilibrium(LD)*** pmir-rs1052482A was cotransfected with miR-3162-5p,there was a substantial decrease in luciferase activity,compared with *** result suggests that rsl052482 was located within a binding site of miR-3162-5p in the STAG33'-UTR,and the minor allele,the rs1052482T polymorphism,might offset inhibition by *** are the first to identify a total of 30 single-nucleotide variations(SNVs)of STAG3 gene in the Korean *** found that two SNVs(rs1727130 and rsl052482)located in the 3'-UTR region may be associated with the NOA *** findings contribute to understanding male infertility with spermatogenic impairment.

关键词： linkage disequilibrium meiotic-specific gene single-nucleotide variations spermatogenic impairment stromal antigen 3 gene

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A Flexible Smart Healthcare Platform Conjugated with Artificial Epidermis Assembled by Three‑Dimensionally Conductive MOF Network for Gas and Pressure Sensing

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Nano-Micro Letters 2025年第2期17卷 601-620页

作者： Qingqing Zhou Qihang Ding Zixun Geng Chencheng Hu Long Yang Zitong Kan Biao Dong Miae Won Hongwei song Lin Xu Jong seung Kim State Key Laboratory of Integrated Optoelectronics College of Electronic Science and EngineeringJilin UniversityChangchun 130012People’s Republic of China Department of Chemistry Korea UniversitySeoul 02841Republic of Korea TheranoChem Incorporation Seoul 02856Republic of Korea

The rising flexible and intelligent electronics greatly facilitate the noninvasive and timely tracking of physiological information in telemedicine *** building bionic-sensitive moieties is vital for designing efficient electronic skin with advanced cognitive functionalities to pluralistically capture external ***,realistic mimesis,both in the skin’s three-dimensional interlocked hierarchical structures and synchronous encoding multistimuli information capacities,remains a challenging yet vital need for simplifying the design of flexible logic ***,we construct an artificial epidermal device by in situ growing Cu_(3)(HHTP)_(2) particles onto the hollow spherical Ti_(3)C_(2)T_(x) surface,aiming to concurrently emulate the spinous and granular layers of the skin’s *** bionic Ti_(3)C_(2)T_(x)@Cu_(3)(HHTP)_(2) exhibits independent NO_(2) and pressure response,as well as novel functionalities such as acoustic signature perception and Morse code-encrypted message ***,a wearable alarming system with a mobile application terminal is self-developed by integrating the bimodular senor into flexible printed *** system can assess risk factors related with asthmatic,such as stimulation of external NO_(2) gas,abnormal expiratory behavior and exertion degrees of fingers,achieving a recognition accuracy of 97.6%as assisted by a machine learning *** work provides a feasible routine to develop intelligent multifunctional healthcare equipment for burgeoning transformative telemedicine diagnosis.

关键词： Ti_(3)C_(2)T_(x)@Cu_(3)(HHTP)_(2)composites NO_(2)/pressure flexible sensors Health-monitoring Machine learning

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Constraints on holographic QCD phase transitions from PTA observations

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Science China(Physics,Mechanics & Astronomy) 2025年第1期Mechanics & Astronomy) .卷 71-78页

作者： song He Li Li Sai Wang Shao-Jiang Wang Center for Theoretical Physics and College of Physics Jilin University School of Physical Science and Technology Ningbo University Max Planck Institute for Gravitational Physics (Albert Einstein Institute) CAS Key Laboratory of Theoretical Physics Institute of Theoretical Physics Chinese Academy of Sciences School of Fundamental Physics and Mathematical Sciences Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of Sciences (UCAS) School of Physical Sciences University of Chinese Academy of Sciences (UCAS) Theoretical Physics Division Institute of High Energy Physics Chinese Academy of Sciences

The underlying physics of QCD phase transition in the early Universe remains largely unknown due to its strong-coupling nature during the quark-gluon plasma/hadron gas transition, yet a holographic model has been proposed to quantitatively fit the lattice QCD data while with its duration of the first-order phase transition(FoPT) left undetermined. At specific baryon chemical potential, the first-order QCD phase transition agrees with the observational constraint of baryon asymmetry. It, therefore, provides a scenario for phase transition gravitational waves(GWs) within the standard model of particle physics. If these background GWs could contribute dominantly to the recently claimed common-spectrum red noise from pulsar timing array(PTA) observations, the duration of this FoPT can be well constrained, and the associated primordial black holes are still allowed by current observations.

关键词： pulsar timing array QCD phase transition gravitational waves primordial black holes

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Inspires effective alternatives to backpropagation:predictive coding helps understand and build learning

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Neural Regeneration Research 2025年第11期20卷 3215-3216页

作者： Zhenghua Xu Miao Yu Yuhang song School of Health Sciences and Biomedical Engineering Hebei University of TechnologyTianjinChina Department of Computer Science University of OxfordOxfordUK

Artificial neural networks are capable of machine learning by simulating the hiera rchical structure of the human *** enable learning by brain and machine,it is essential to accurately identify and correct the prediction errors,referred to as credit assignment(Lillicrap et al.,2020).It is critical to develop artificial intelligence by understanding how the brain deals with credit assignment in neuroscience.

关键词： assignment learning enable

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TRIPLET combined with microwave ablation:A novel treatment for advanced hepatocellular carcinoma

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 10-12页

作者： Fei-Yu Zhao Guo-Wei Si Nian-song Qian Department of Thoracic Oncology Respiratory and Critical Care MedicineThe Eighth Medical Center of People’s Liberation Army General HospitalBeijing 100853China Department of Gastroenterology Fourth Medical CentreGeneral Hospital of the People's Liberation ArmyBeijing 100142China Senior Department of Thoracic Oncology Respiratory and Critical Care MedicineThe Eighth Medical Center of People’s Liberation Army General HospitalBeijing 100091China

This editorial comments on a study by Zuo et *** focus is on the efficacy of he-patic arterial infusion chemotherapy combined with camrelizumab and apatinib(the TRIPLET regimen),alongside microwave ablation therapy,in treating advanced hepatocellular carcinoma(HCC).The potential application of this combination therapy for patients with advanced HCC is evaluated.

关键词： Microwave ablation Hepatic arterial infusion chemotherapy Apatinib Camrelizumab Hepatocellular carcinoma

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Neuronal regulated cell death in aging-related neurodegenerative diseases:key pathways and therapeutic potentials

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Neural Regeneration Research 2025年第8期20卷 2245-2263页

作者： Run song Shiyi Yin Jiannan Wu Junqiang Yan Department of Neurology The First Affiliated HospitalCollege of Clinical Medicine of Henan University of Science and TechnologyLuoyangHenan ProvinceChina Neuromolecular Biology Laboratory The First Affiliated HospitalCollege of Clinical Medicine of Henan University of Science and TechnologyLuoyangHenan ProvinceChina

Regulated cell death(such as apoptosis,necroptosis,pyroptosis,autophagy,cuproptosis,ferroptosis,disulfidptosis)involves complex signaling pathways and molecular effectors,and has been proven to be an important regulatory mechanism for regulating neuronal aging and ***,excessive activation of regulated cell death may lead to the progression of aging-related *** review summarizes recent advances in the understanding of seven forms of regulated cell death in age-related ***,the newly identified ferroptosis and cuproptosis have been implicated in the risk of cognitive impairment and neurodegenerative *** forms of cell death exacerbate disease progression by promoting inflammation,oxidative stress,and pathological protein *** review also provides an overview of key signaling pathways and crosstalk mechanisms among these regulated cell death forms,with a focus on ferroptosis,cuproptosis,and *** instance,FDX1 directly induces cuproptosis by regulating copper ion valency and dihydrolipoamide S-acetyltransferase aggregation,while copper mediates glutathione peroxidase 4 degradation,enhancing ferroptosis ***,inhibiting the Xc-transport system to prevent ferroptosis can increase disulfide formation and shift the NADP^(+)/NADPH ratio,transitioning ferroptosis to *** insights help to uncover the potential connections among these novel regulated cell death forms and differentiate them from traditional regulated cell death *** conclusion,identifying key targets and their crosstalk points among various regulated cell death pathways may aid in developing specific biomarkers to reverse the aging clock and treat age-related neurodegenerative conditions.

关键词： apoptosis autophagy cuproptosis disulfidptosis ferroptosis necroptosis neurodegenerative disease neurological aging diseases PANoptosis pyroptosis

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Calcium channels caught in peripheral glia’s tug-of-war on axon regeneration in Drosophila

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Neural Regeneration Research 2025年第2期20卷 475-476页

作者： Jackson Powell Tobias Steinschaden Rose Horowitz Yuanquan song Raymond G.Perelman Center for Cellular and Molecular Therapeutics The Children’s Hospital of PhiladelphiaPhiladelphiaPAUSA The Neuroscience Graduate Group University of PennsylvaniaPhiladelphiaPAUSA Department of Pathology and Laboratory Medicine University of PennsylvaniaPhiladelphiaPAUSA Medical University of Vienna Center for Brain ResearchDepartment of NeuroimmunologyViennaAustria

Neural damage or degeneration is at the crux of many diseases,and treatment of these diseases will require the development of therapeutics to enhance and guide neural *** intrinsic and extrinsic factors dictate a neuron’s ability to regenerate,and the combination of these factors results in the great regenerative capacity of the peripheral nervous system(PNS)and the poor regenerative capacity of the central nervous system(CNS)following *** the core of a neuron’s function is its ability to relay electrochemical signals,and a neuron’s excitability is a key factor in its ability to *** works have focused on the changes in neuronal electrophysiological properties,firing patterns,and ion flux after injury,which differentially activate signaling pathways at the core of *** role of glia in neuron regeneration has long been studied.

关键词： degeneration firing system

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Passive activity enhances residual control ability in patients with complete spinal cord injury

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Neural Regeneration Research 2025年第8期20卷 2337-2347页

作者： Yanqing Xiao Mingming Gao Zejia He Jia Zheng Hongming Bai Jia-Sheng Rao Guiyun song Wei song Xiaoguang Li Beijing Key Laboratory for Biomaterials and Neural Regeneration Beijing Advanced Innovation Center for Biomedical EngineeringSchool of Biological Science and Medical EngineeringBeihang UniversityBeijingChina Department of Rehabilitation Evaluation China Rehabilitation Research CenterBeijingChina Cardiac Center Beijing Children’s HospitalCapital Medical UniversityBeijingChina The State Key Laboratory of Virtual Reality Technology and Systems Beihang UniversityBeijingChina Department of Rehabilitation Engineering China Rehabilitation Science InstituteBeijingChina

Patients with complete spinal cord injury retain the potential for volitional muscle activity in muscles located below the spinal injury ***,because of prolonged inactivity,initial attempts to activate these muscles may not effectively engage any of the remaining neurons in the descending pathway.A previous study unexpectedly found that a brief clinical round of passive activity significantly increased volitional muscle activation,as measured by surface *** this study,we further explored the effect of passive activity on surface electromyographic signals during volitional control tasks among individuals with complete spinal cord *** patients with chronic complete thoracic spinal cord injury were *** electromyography data from eight major leg muscles were acquired and compared before and after the passive activity *** results indicated that the passive activity led to an increased number of activated volitional muscles and an increased frequency of *** the cumulative root mean square of surface electromyography amplitude for volitional control of movement showed a slight increase after passive activity,the difference was not statistically *** findings suggest that brief passive activity may enhance the ability to initiate volitional muscle activity during surface electromyography tasks and underscore the potential of passive activity for improving residual motor control among patients with motor complete spinal cord injury.

关键词： complete spinal cord injury cycle training epidural electrical stimulation motor training passive activity physiological state spinal cord circuit surface electromyography volitional control task

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