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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

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Population diversity of cardiovascular outcome trials and real-world patients with diabetes in a Chinese tertiary hospital

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Chinese Medical Journal 2021年第11期134卷 1317-1323页

作者： yi-ling zhou Yong-Gang Zhang Rui Zhang You-Lian zhou Nan Li Mi-Ye Wang Hao-Ming Tian She-Yu Li Department of Endocrinology and Metabolism West China Hospital of Sichuan UniversityChengduSichuan 610041China Cochrane China Center MAGIC China CenterChinese Evidence-based Medicine CenterWest China Hospital of Sichuan UniversityChengduSichuan 610041China The Informatic Center West China Hospital of Sichuan UniversityChengduSichuan 610041China Engineering Research Center for Medical Information Technology Ministry of EducationWest China Hospital of Sichuan UniversityChengduSichuan 610041China

Background:Recent cardiovascular outcome trials(CVOTs)changed the therapeutic strategy of guidelines for type 2 diabetes.We compared the characteristics of patients from real-world hospital settings with those of participants in recent pragmatic randomized trials.Methods:This electronic medical record(EMR)-based retrospective observational study investigated the data of patients with diabetes from inpatient and outpatient settings in West China Hospital of Sichuan University from January 1,2011,to June 30,2019.We identified patients meeting the inclusion criteria of a pragmatic randomized trial(EMPA-REG OUTCOME)based on EMRs and compared their baseline characteristics with those of the trial participants.The cutoff for the clinical significance of each characteristic was set as its minimal clinically important difference based on expert consultation.Results:We included 48,257 inpatients and 36,857 outpatients with diabetes and found that 8389(17.4%)inpatients and 2646(7.2%)outpatients met the inclusion criteria for the EMPA-REG OUTCOME trial.Compared with the trial population,the realworld inpatients meeting the eligibility criteria of the EMPA-REG OUTCOME had similar age,blood pressure,and lipid profiles but comprised of fewer males,metformin users,anti-hypertensive drug users,and aspirin users,and had a lower body mass index.The group of outpatients meeting the eligibility criteria had fewer males,similar age,fewer metformin users,fewer insulin users,fewer anti-hypertensive drug users,and fewer aspirin users compared with the trial population.Conclusions:The trial population in EMPA-REG OUTCOME represents only a small portion of patients with diabetes from the inpatient and outpatient departments of a Chinese tertiary medical center.Evidence localization in different clinical settings and validation are essential to enabling extrapolation of the results from CVOTs in patients with diabetes to Chinese clinical practice.

关键词： Cardiovascular outcome trials Empagliflozin Indirectness of evidence

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跨学科融合实验:不锈钢皂的效果检验、原理探究与创新自制

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化学教育（中英文） 2024年第9期45卷 83-88页

作者：魏崇启凌一洲王澍江苏省丰县中学江苏徐州221700 南京师范大学教育科学学院江苏南京210097 徐州市教育科学研究院江苏徐州221009

不锈钢皂是用304不锈钢制作的肥皂,其有效性和原理存在争议。设计了跨学科融合实验,包括不锈钢皂的效果检验、原理探究与创新自制等3个主要环节。实验结果表明,不锈钢皂不能除菌,但能去除异味;其原理是物理吸附作用,而不是通过生成二价... 详细信息

不锈钢皂是用304不锈钢制作的肥皂,其有效性和原理存在争议。设计了跨学科融合实验,包括不锈钢皂的效果检验、原理探究与创新自制等3个主要环节。实验结果表明,不锈钢皂不能除菌,但能去除异味;其原理是物理吸附作用,而不是通过生成二价铁离子或三价铁离子与异味分子反应;可以通过物理打磨或化学腐蚀不锈钢表面、添加有效成分等多种方法自制不锈钢皂。实验基于生活情境中的真实问题,融合了化学、物理、生物、医学、通用技术等多学科知识和方法,培养学生解决跨学科问题的能力。

关键词：跨学科融合创新实验不锈钢皂实验探究

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Widespread and active piezotolerant microorganisms mediate phenolic compound degradation under high hydrostatic pressure in hadal trenches

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Marine Life Science & Technology 2024年第2期6卷 331-348页

作者： Hao ling Yongxin Lv Yu Zhang Ning‑yi zhou ying Xu State Key Laboratory of Microbial Metabolism Joint International Research Laboratory of Metabolic and Developmental Sciences and School of Life Sciences and BiotechnologyShanghai Jiao Tong UniversityShanghai 200240China School of Oceanography Shanghai Jiao Tong UniversityShanghai 200240China State Key of Laboratory of Ocean Engineering Shanghai Jiao Tong UniversityShanghai 200240China

Phenolic compounds,as well as other aromatic compounds,have been reported to be abundant in hadal trenches.Although high-throughput sequencing studies have hinted at the potential of hadal microbes to degrade these compounds,direct microbiological,genetic and biochemical evidence under in situ pressures remain absent.Here,a microbial consortium and a pure culture of Pseudomonas,newly isolated from Mariana Trench sediments,efficiently degraded phenol under pressures up to 70 and 60 MPa,respectively,with concomitant increase in biomass.By analyzing a high-pressure(70 MPa)culture metatranscriptome,not only was the entire range of metabolic processes under high pressure generated,but also genes encod-ing complete phenol degradation via ortho-and meta-cleavage pathways were revealed.The isolate of Pseudomonas also contained genes encoding the complete degradation pathway.Six transcribed genes(dmpKLMNOP_(sed))were functionally identified to encode a multicomponent hydroxylase catalyzing the hydroxylation of phenol and its methylated derivatives by heterogeneous expression.In addition,key catabolic genes identified in the metatranscriptome of the high-pressure cultures and genomes of bacterial isolates were found to be all widely distributed in 22 published hadal microbial metagenomes.At microbiological,genetic,bioinformatics,and biochemical levels,this study found that microorganisms widely found in hadal trenches were able to effectively drive phenolic compound degradation under high hydrostatic pressures.This information will bridge a knowledge gap concerning the microbial aromatics degradation within hadal trenches.

关键词： Hadal trench High hydrostatic pressure Phenolic compounds degradation Piezotolerant microorganisms Widespread distribution

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Effects of dietary intervention on human diseases:molecular mechanisms and therapeutic potential

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Signal Transduction and Targeted Therapy 2024年第4期9卷 1389-1422页

作者： Yu-ling Xiao Yue Gong ying-Jia Qi Zhi-Ming Shao yi-zhou Jiang Key Laboratory of Breast Cancer in Shanghai Department of Breast SurgeryFudan University Shanghai Cancer CenterShanghaiChina Department of Oncology Shanghai Medical CollegeFudanUniversityShanghai200032China

Diet,serving as a vital source of nutrients,exerts a profound influence on human health and disease progression.Recently,dietary interventions have emerged as promising adjunctive treatment strategies not only for cancer but also for neurodegenerative diseases,autoimmune diseases,cardiovascular diseases,and metabolic disorders.These interventions have demonstrated substantial potential in modulating metabolism,disease trajectory,and therapeutic responses.Metabolic reprogramming is a hallmark of malignant progression,and a deeper understanding of this phenomenon in tumors and its effects on immune regulation is a significant challenge that impedes cancer eradication.Dietary intake,as a key environmental factor,can influence tumor metabolism.Emerging evidence indicates that dietary interventions might affect the nutrient availability in tumors,thereby increasing the efficacy of cancer treatments.However,the intricate interplay between dietary interventions and the pathogenesis of cancer and other diseases is complex.Despite encouraging results,the mechanisms underlying diet-based therapeutic strategies remain largely unexplored,often resulting in underutilization in disease management.In this review,we aim to illuminate the potential effects of various dietary interventions,including calorie restriction,fasting-mimicking diet,ketogenic diet,protein restriction diet,high-salt diet,high-fat diet,and high-fiber diet,on cancer and the aforementioned diseases.We explore the multifaceted impacts of these dietary interventions,encompassing their immunomodulatory effects,other biological impacts,and underlying molecular mechanisms.This review offers valuable insights into the potential application of these dietary interventions as adjunctive therapies in disease management.

关键词： diseases metabolism potential

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LncRNA HCP5-encoded protein contributes to adriamycin resistance through ERK/mTOR pathway-mediated autophagy in breast cancer cells

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Genes & Diseases 2024年第4期11卷 69-72页

作者： Jia-Ni Xing yi-Ni Shang Zheng-ling Yu Shun-Heng zhou Wang-Yang Chen Li-Hong Wang Department of Pathophysiology Medical College of Southeast UniversityNanjingJiangsu 210009China Department of Biomedical Engineering Nanjing University of Aeronautics and AstronauticsNanjingJiangsu 211106China School of Medicine Taizhou UniversityTaizhouZhejiang 318000China Jiangsu Provincial Key Laboratory of Critical Care Medicine NanjingJiangsu 210009China

Adriamycin(ADR),also known as doxorubicin,is an anthracycline anticancer drug and a chemotherapeutic drug commonly used in breast cancer treatments.1 However,breast cancer patients can gradually become tolerant to chemotherapy.Therefore,improving the curative effect of ADR remains an urgent problem to be solved.Autophagy is a complex catabolic process;normal living cells break down damaged organelles or aggregated molecules and absorb energy to maintain homeostasis through autophagy.

关键词： breast cancer homeostasis

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Oxidation of emerging organic contaminants by in-situ H_(2)O_(2) fenton system

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Green Energy & Environment 2024年第3期9卷 417-434页

作者： Yuqin Ni Chuxiang zhou Mingyang Xing yi zhou State Environmental Protection Key Lab of Environmental Risk Assessment and Control on Chemical Processes School of Resources&Environmental EngineeringEast China University of Science and TechnologyShanghai200237China Key Laboratory for Advanced Materials and Institute of Fine Chemicals National Engineering Laboratory for Industrial Wastewater TreatmentSchool of Chemistry and Molecular EngineeringEast China University of Science and Technology130 Meilong RoadShanghai200237China Department of Applied Natural Sciences Technische Hochschule LubeckMonkhofer Weg 23923562 LubeckGermany

The existence and risk of emerging organic contaminants(EOCs)have been under consideration and paid much effort to degrade these pollutants.Fenton system is one of the most widely used technologies to solve this problem.The original Fenton system relies on the hydroxyl radicals produced by Fe(Ⅱ)/H_(2)O_(2) to oxidize the organic contaminants.However,the application of the Fenton system is limited by its low iron cycling efficiency and the high risks of hydrogen peroxide transportation and storage.The introduction of external energy(including light and electricity etc.)can effectively promote the Fe(Ⅲ)/Fe(Ⅱ)cycle and the reduction of oxygen to produce hydrogen peroxide in situ.This review introduces three in-situ Fenton systems,which are electro-Fenton,Photo-Fenton,and chemical reaction.The mechanism,influencing factors,and catalysts of these three in-situ Fenton systems in degrading EOCs are discussed systematically.This review strengthens the understanding of Fenton and in-situ Fenton systems in degradation,offering further insight into the real application of the in-situ Fenton system in the removal of EOCs.

关键词： In-situ H_(2)O_(2)production Fenton Emerging organic contaminants Photocatalysis Electrocatalysis

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The History of Controlling and Treating Infectious Diseases in Ancient China

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Current Medical Science 2024年第1期44卷 64-70页

作者： Cui-ling LIU Tao zhou Liang-bin CHENG David FISHER Khrystyna PRONYUK Erkin MUSABAEV yi-ping DANG Lei ZHAO Department of Infectious Diseases Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Gastroenterology and Hepatology Huanggang Hospital of Traditional Chinese MedicineHubei University of Chinese MedicineHuanggang 438000China Clinical College of Traditional Chinese Medicine Hubei University of Chinese MedicineWuhan 430065China Department of Liver Diseases Hubei Hospital of Traditional Chinese MedicineWuhan 430061China Department of Medical Biosciences Faculty of Natural SciencesUniversity of the Western CapeBellvilleCape Town 7535South Africa Department of Infectious Diseases Bogomolets National Medical UniversityKyiv 02132Ukraine The Research Institute of Virology Ministry of HealthTashkent 100122Uzbekistan Department of Vascular Surgery Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China

Infectious diseases are the common enemies of mankind.In the course of historical development,they persistently threaten human health and safety.Even today,despite the developments in medical science,we cannot escape the fear and suffering caused by infectious diseases.Whether in ancient or modern times,the source of infection,route of transmission,and a susceptible population are the three key conditions for the prevalence and spread of infectious diseases.All factors closely related to these three conditions can affect the prevalence of infectious diseases.China is one of the cradles of world civilization.The ancient people accumulated a great deal of experience and lessons in the long struggle against infectious diseases.In the face of the current threat posed by widespread infectious disease,it is imperative to review and summarize ancient Chinese ideas and health policies on epidemic prevention and control to inspire contemporary efforts in the prevention and control of infectious disease.The combination of prevention-oriented epidemic prevention ideology and traditional medicine provides valuable insights,especially for impoverished and medically underserved regions.

关键词： infectious diseases Chinese medicine public health historical review

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In-situ analysis and genetic investigation of Li-bearing minerals in McDermitt clay-type lithium deposit,Nevada,USA

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Acta Geochimica 2024年第3期43卷 478-488页

作者： yi Cui Hanjie Wen Zhengbing zhou Kunyue ling Lin Xu Shirong Liu Fei Xu School of Earth Sciences East China University of TechnologyNanchang 330013China State Key Laboratory of Nuclear Resources and Environment East China University of TechnologyNanchang 330013China School of Earth Sciences and Resources Chang’an UniversityXi’an 710054China College of Earth and Planetary Sciences University of Chinese Academy of SciencesBeijing 100049China State Key Laboratory of Ore Deposit Geochemistry Institute of GeochemistryChinese Academy of SciencesGuiyang 550081China State Key Laboratory of Environmental Geochemistry Institute of GeochemistryChinese Academy of SciencesGuiyang 550081China

Clay-type Li deposits are poised to play a pivotal role in addressing the surging global demand for Li.The McDermitt clay-type Li deposit,located in Nevada,is the largest Li deposit in the United States,with Li hosted by a clay-rich sequence of smectite-dominated intervals and illite-dominated intervals,respectively.However,the occurrence of Li and the genesis of Li-bearing minerals within smectite-dominated intervals have not been thoroughly investigated in previous research.Here,we studied the mineralogy,the in-situ Li distribution,and the bonding environments of Li within the smectite intervals using a combination of instru-mental techniques including scanning electron microscope,transmission electron microscope,time-of-flight secondary ion mass spectrometry,and nuclear magnetic resonance.Our results indicate that the smectite exhibits low crystallinity characteristics of lacustrine clay authigenesis and is com-monly found tofill the interstices among volcanic minerals or envelop them;Li is mainly hosted by Mg-smectite rather than the volcanic minerals.Within the tuffaceous sediment samples,the volcanic glass has undergone a transformation,resulting in its complete disappearance and alteration into clay minerals.Owing to the octahedral sites of Mg-smectite bounded in Li,it is referred to be hectorite.We interpret that the hectorite’s precipitation occurs in a high saline-alkaline water environment,a result of McDermitt tuffdissolution.This conclusion can be supported by the coexistence of spherulitic calcite and hectorite.Overall,this study confirms hectorite as the main Li-bearing mineral and increases the understanding of the genetic model of hectorite formation in intracontinental caldera basins.

关键词： McDermitt caldera Lithium occurrence Tuffaceous sediments Mineralogy Hectorite neoformation

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Regulation of rhizosphere microenvironment by rice husk ash for reducing the accumulation of cadmium and arsenic in rice

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Journal of Environmental Sciences 2024年第2期136卷 1-10页

作者： yi Jiang Ya Liu Xuantao yi Peng Zeng Bohan Liao Hang zhou Jiaofeng Gu College of Environmental Science and Engineering Central South University of Forestry and TechnologyChangsha 410004China Hunan Engineering Laboratory for Control of Rice Quality and Safety Changsha 410004China

It is important to reduce Cd and As content in brown rice in contaminated paddy soils.We conducted research on the effects of rice husk ash (RHA) on the Cd and As in the rhizosphere microenvironment (soil,porewater,and iron plaque) and measured the Cd,As,and Si content in rice plants.The main elements in RHA were Si (29.64%) and O (69.17%),which had the maximum adsorption capacity for Cd was 42.49 mg/kg and for As was 18.62 mg/kg.Soil pH and available Si content increased,while soil available Cd and As decreased following application of 0.5%–2%RHA.RHA promote the transformation of Cd to insoluble fraction,while As was transformed from a poorly soluble form to a more active one.RHA reduced Cd content and increased Si content in porewater,and reduced As only at the later rice growth stages.RHA increased the amount of iron plaque,thereby decreasing the Cd content in iron plaque,while increased the As content in it.Cd and inorganic As content in brown rice were decreased,to 0.31 mg/kg and 0.18 mg/kg,respectively.The decrease of Cd in brown rice was due to the decrease of Cd mobility in soil,thereby reducing root accumulation,while the decrease of As in brown rice was affected by the transport from roots to stems.Therefore,RHA can be considered as a safe and efficient in-situ remediation amendment for Cd and As co-contaminated paddy soil.

关键词： Rice husk ash(rha) Cadmium Arsenic Silicon Rice Soil

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