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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 *** several monogenic factors are linked to cephalic abnormalities,such as globozoospermia and macrozoospermia,the genetic cause of vacuolated spermatozoa remains inadequately ***,we analyzed whole-exome sequencing(WES)data for an individual from a consanguineous family with severely vacuolated *** analysis revealed a novel homozygous c.520A>G(***174Ala)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 *** algorithms predicted this variant to be a damaging *** with an autosomal recessive mode of inheritance,this variant was inherited from heterozygous parental *** 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 *** analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the *** findings reveal a candidate causative gene for vacuolated spermatozoa.

关键词： AMZ2 male infertility sperm quality teratozoospermia

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Design and prototyping of the readout electronics for the transition radiation detector in the high energy cosmic radiation detection facility

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Nuclear Science and Techniques 2024年第4期35卷 189-199页

作者： Jie-Yu Zhu Yang-Zhou Su Hai-Bo Yang Fen-Hua Lu Yan Yang Xi-Wen Liu Ping Wei shu-Cai Wan Hao-Qing Xie Xian-Qin Li Cong Dai Hui-Jun Hu Hong-Bang Liu shu-Wen tang Cheng-Xin Zhao Institute of Modern Physics Chinese Academy of SciencesLanzhou 730000China School of Nuclear Science and Technology University of Chinese Academy of SciencesBeijing 100049China Guangxi Key Laboratory for Relativistic Astrophysics School of Physical Science and TechnologyGuangxi UniversityNanning 530004China

The high energy cosmic-radiation detection(HERD)facility is planned to launch in 2027 and scheduled to be installed on the China Space *** serves as a dark matter particle detector,a cosmic ray instrument,and an observatory for high-energy gamma rays.A transition radiation detector placed on one of its lateral sides serves dual purpose,(ⅰ)calibrating HERD's electromagnetic calorimeter in the TeV energy range,and(ⅱ)serving as an independent detector for high-energy gamma *** this paper,the prototype readout electronics design of the transition radiation detector is demonstrated,which aims to accurately measure the charge of the anodes using the SAMPA application specific integrated circuit *** electronic performance of the prototype system is evaluated in terms of noise,linearity,and *** the presented design,each electronic channel can achieve a dynamic range of 0–100 fC,the RMS noise level not exceeding 0.15 fC,and the integral nonlinearity was<0.2%.To further verify the readout electronic performance,a joint test with the detector was carried out,and the results show that the prototype system can satisfy the requirements of the detector's scientific goals.

关键词： HERD Dark matter particle detection TRD Readout electronics SAMPA Data acquisition Performance test

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α-decay properties of superheavy nuclei with 117 ≤ Z ≤ 120 from the systematics of decay chains and isotopic chains

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Chinese Physics C 2024年第3期48卷 118-125页

作者：万涛唐树林钱以斌 Department of Applied Physics and MIIT Key Laboratory of Semiconductor Microstructure and Quantum Sensing Nanjing University of Science and TechnologyNanjing 210094China

Recently, the synthesis of new elements above Z = 118 has been a hot topic in nuclear physics. Meanwhile, the α-decay chain is expected to be the unique tool to identify these heaviest nuclei. We have systematically calculated the α-decay energies and half-lives on the same footing for superheavy nuclei (SHN) within the cluster model along with a slightly modified Woods-Saxon (W.S.) potential as the nuclear potential. Based on the available experimental data, the key radius parameter (R) in the α-core potential is determined via the systematic trend from the α-decay and isotopic chains. The α-decay energy (Qα) values and half-lives are then obtained simultaneously for those unknown SHN in the range of 117 ≤ Z ≤ 120, during which the decay width is obtained using a new treatment for the asymptotic behavior of the α-core wave function. The theoretical values and experimental data are found to be in excellent agreement for the nuclei ^(293,294)117 and ^(294)118 regardless of the method used to determine the R parameter. Predicting the α-decay chains for new elements Z = 119 and Z = 120 can be useful in ongoing or forthcoming experiments.

关键词： superheavy nuclei αdecay decay chains isotopic chains

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Loss of LBP triggers lipid metabolic disorder through H3K27 acetylation-mediated C/EBPβ-SCD activation in non-alcoholic fatty liver disease

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Zoological Research 2024年第1期45卷 79-94页

作者： Ya-Ling Zhu Lei-Lei Meng Jin-Hu Ma Xin Yuan shu-Wen Chen Xin-Rui Yi Xin-Yu Li Yi Wang Yun-shu tang Min Xue Mei-Zi Zhu Jin Peng Xue-Jin Lu Jian-Zhen Huang Zi-Chen Song Chong Wu Ke-Zhong Zheng Qing-Qing Dai Fan Huang Hao-shu Fang Department of Pathophysiology Anhui Medical UniversityHefeiAnhui 230032China Laboratory Animal Research Center School of Basic Medical SciencesAnhui Medical UniversityHefeiAnhui 230032China Department of Hepatobiliary Surgery First Affiliated Hospital of Anhui Medical UniversityHefeiAnhui 230022China College of Animal Science and Technology Jiangxi Agricultural UniversityNanchangJiangxi 330045China

Non-alcoholic fatty liver disease(NAFLD)is associated with mutations in lipopolysaccharide-binding protein(LBP),but the underlying epigenetic mechanisms remain ***,LBP^(-/-)rats with NAFLD were established and used to conduct integrative targetingactive enhancer histone H3 lysine 27 acetylation(H3K27ac)chromatin immunoprecipitation coupled with high-throughput and transcriptomic sequencing analysis to explore the potential epigenetic pathomechanisms of active enhancers of NAFLD exacerbation upon LBP ***,LBP^(-/-)reduced the inflammatory response but markedly aggravated high-fat diet(HFD)-induced NAFLD in rats,with pronounced alterations in the histone acetylome and regulatory *** total,1128 differential enhancer-target genes significantly enriched in cholesterol and fatty acid metabolism were identified between wild-type(WT)and LBP^(-/-)NAFLD *** on integrative analysis,CCAAT/enhancer-binding proteinβ(C/EBPβ)was identified as a pivotal transcription factor(TF)and contributor to dysregulated histone acetylome H3K27ac,and the lipid metabolism gene SCD was identified as a downstream effector exacerbating *** study not only broadens our understanding of the essential role of LBP in the pathogenesis of NAFLD from an epigenetics perspective but also identifies key TF C/EBPβand functional gene SCD as potential regulators and therapeutic targets.

关键词： Non-alcoholic fatty liver disease C/EBPβ Lipopolysaccharide-binding protein H3K27ac Integrative analysis Enhancer

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Cardiotoxicity induced by fluoropyrimidine drugs in the treatment of gastrointestinal tumors

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World Journal of Gastrointestinal Oncology 2024年第2期16卷 251-254页

作者： Mo-Wei Kong Feng-Di Sun Zhen-Ying Pei Li Xu Ze-Bi Wang Yan Chen shu-Qing tang Ting-Fang Yang Guo-Xiang He Department of Cardiology Guiqian International General HospitalGuiyang 550018Guizhou ProvinceChina Department of Oncology Guiqian International General HospitalGuiyang 550018Guizhou ProvinceChina

In this editorial,we review the article published in World J Gastrointest Oncol 2019,11:*** specifically focus on the occurrence,clinical characteristics,and risk factors of fluoropyrimidine drug-related cardiotoxicity in patients with gastrointestinal *** significant advancements in diagnostic and therapeutic techniques that have reduced mortality rates associated with digestive system tumors,the incidence and mortality rates of treatment-related car-diotoxicity have been increasing,severely impacting the survival and prognosis of cancer *** drugs are widely used as antimetabolites in the treatment of malignant tumors,including gastrointestinal tumors,and they represent the second largest class of drugs associated with ***,there is often a lack of awareness or understanding regarding their cardiotoxic effects and associated risks.

关键词： Cardiotoxicity Gastrointestinal tumors Risk factors Fluoropyrimidine Chest pain

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Opportunities for production and property research of neutron-rich nuclei around N=126 at HIAF

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Nuclear Science and Techniques 2024年第6期35卷 101-113页

作者： Shao-Bo Ma Li-Na Sheng Xue-Heng Zhang Shi-Tao Wang Kai-Long Wang Chun-Wang Ma Hool-Jin Ong Zhi-Yu Sun shu-Wen tang Yu-Hong Yu Xin-Tong Du Xiao-Bao Wei Institute of Modern Physics Chinese Academy of SciencesLanzhou 730000China Advanced Energy Science and Technology Guangdong Laboratory Huizhou 516000China University of Chinese Academy of Sciences Beijing 100049China College of Physics Henan Normal UniversityXinxiang 453007China Institute of Nuclear Science and Technology Henan Academy of ScienceZhengzhou 450046China Joint-Department for Nuclear Physics Lanzhou University and Institute of Modern PhysicsLanzhou 730000China Research Center for Nuclear Physics Osaka UniversityOsaka 567-0047Japan RIKEN Nishina Center Saitama 351-0198Japan Northwest Normal University Lanzhou 730070China

The study of nuclide production and its properties in the N=126 neutron-rich region is prevalent in nuclear physics and astrophysics *** upcoming High-energy FRagment Separator(HFRS)at the High-Intensity heavy-ion Accelerator Facility(HIAF),an in-flight separator at relativistic energies,is characterized by high beam intensity,large ion-optical acceptance,high magnetic rigidity,and high momentum resolution *** provides an opportunity to study the production and properties of neutron-rich nuclei around N=*** this paper,an experimental scheme is proposed to produce neutron-rich nuclei around N=126 and simultaneously measure their mass and lifetime based on the HFRS separator;the feasibility of this scheme is evaluated through *** results show that under the high-resolution optical mode,many new neutron-rich nuclei approaching the r-process abundance peak around A=195 can be produced for the first time,and many nuclei with unknown masses and lifetimes can be produced with high *** the time-of-flight corrected by the measured dispersive position and energy loss information,the cocktails produced from 208 Pb fragmentation can be unambiguously ***,the masses of some neutron-rich nuclei near N=126 can be measured with high precision using the time-of-flight magnetic rigidity *** indicates that the HIAF-HFRS facility has the potential for the production and property research of neutron-rich nuclei around N=126,which is of great significance for expanding the chart of nuclides,developing nuclear theories,and understanding the origin of heavy elements in the universe.

关键词： HFRS Fragmentation Neutron-rich nuclei around N=126 Mass measurement Lifetime

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Association of age at diagnosis of diabetes with subsequent risk of age-related ocular diseases and vision acuity

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World Journal of Diabetes 2024年第4期15卷 697-711页

作者： Si-Ting Ye Xian-Wen Shang Yu Huang Susan Zhu Zhuo-Ting Zhu Xue-Li Zhang Wei Wang shu-Lin tang Zong-Yuan Ge Xiao-Hong Yang Ming-Guang He The Second Clinical College Guangzhou University of Chinese MedicineGuangzhou 510120Guangdong ProvinceChina Department of Ultrasound The Second Affiliated Hospital of Guangzhou University of Chinese MedicineGuangzhou 510120Guangdong ProvinceChina Guangdong Eye Institute Department of OphthalmologyGuangdong Provincial People’s HospitalGuangdong Academy of Medical SciencesGuangzhou 510080Guangdong ProvinceChina Guangdong Cardiovascular Institute Guangdong Provincial People's HospitalGuangdong Academy of Medical SciencesGuangzhou 510080Guangdong ProvinceChina Austin Hospital University of MelbourneMelbourne 3084VictoriaAustralia State Key Laboratory of Ophthalmology Zhongshan Ophthalmic CenterSun Yat-sen UniversityGuangzhou 510060Guangdong ProvinceChina Monash e-Research Center Faculty of EngineeringAirdoc ResearchNvidia AI Technology Research CenterMonash UniversityMelbourne 3080VictoriaAustralia Department of Ophthalmic Epidemiology Centre for Eye Research AustraliaMelbourne 3002VictoriaAustralia

BACKGROUND The importance of age on the development of ocular conditions has been reported by numerous *** may have different associations with different stages of ocular conditions,and the duration of diabetes may affect the development of diabetic eye *** there is a dose-response relationship between the age at diagnosis of diabetes and the risk of cardiovascular disease and mortality,whether the age at diagnosis of diabetes is associated with incident ocular conditions remains to be *** is unclear which types of diabetes are more predictive of ocular *** To examine associations between the age of diabetes diagnosis and the incidence of cataract,glaucoma,age-related macular degeneration(AMD),and vision *** Our analysis was using the UK *** cohort included 8709 diabetic participants and 17418 controls for ocular condition analysis,and 6689 diabetic participants and 13378 controls for vision *** diseases were identified using inpatient records until January *** acuity was assessed using a *** During a median follow-up of 11.0 years,3874,665,and 616 new cases of cataract,glaucoma,and AMD,respectively,were identified.A stronger association between diabetes and incident ocular conditions was observed where diabetes was diagnosed at a younger *** with type 2 diabetes(T2D)diagnosed at<45 years[HR(95%CI):2.71(1.49-4.93)],45-49 years[2.57(1.17-5.65)],50-54 years[1.85(1.13-3.04)],or 50-59 years of age[1.53(1.00-2.34)]had a higher risk of AMD independent of glycated haemoglobin.T2D diagnosed<45 years[HR(95%CI):2.18(1.71-2.79)],45-49 years[1.54(1.19-2.01)],50-54 years[1.60(1.31-1.96)],or 55-59 years of age[1.21(1.02-1.43)]was associated with an increased cataract risk.T2D diagnosed<45 years of age only was associated with an increased risk of glaucoma[HR(95%CI):1.76(1.00-3.12)].HRs(95%CIs)for AMD,cataract,and glaucoma associated with type 1 diabetes(T1D)were 4.12(1.99-8.53),

关键词： Diabetes Age at diagnosis Cataract Glaucoma Age-related macular disease Vision acuity

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埃克替尼联合吉西他滨、顺铂化疗对晚期非小细胞肺癌患者血管新生和治疗获益的影响

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中国医院药学杂志 2024年第11期44卷 1317-1321页

作者：王实慧汤姝萍乡市人民医院多学科管理办公室江西萍乡337000 郑州大学第一附属医院药学部河南郑州450000

目的:探讨埃克替尼联合吉西他滨、顺铂化疗对晚期非小细胞肺癌患者血管新生和治疗获益的影响。方法:采用回顾性研究方法,选取2018年1月至2020年12月萍乡市人民医院晚期非小细胞肺癌患者86例,按照治疗方法将患者分为观察组(n=43)、对照组... 详细信息

目的:探讨埃克替尼联合吉西他滨、顺铂化疗对晚期非小细胞肺癌患者血管新生和治疗获益的影响。方法:采用回顾性研究方法,选取2018年1月至2020年12月萍乡市人民医院晚期非小细胞肺癌患者86例,按照治疗方法将患者分为观察组(n=43)、对照组(n=43)。对照组予以吉西他滨、顺铂化疗,观察组在对照组基础上给予埃克替尼治疗,均治疗12周。比较2组临床疗效、治疗期间不良反应及治疗前后血清血管新生因子[血管内皮生长因子(vascular endothelial growth factor,VEGF)、转化生长因子-β1(transforming growth factor-beta 1,TGF-β1)、基质金属蛋白酶-9(matrix metalloproteinase-9,MMP-9)]、肿瘤标志物[细胞角蛋白19片段21-1(cytokeratin 19 fragment antigen 21-1,CYFRA21-1)、糖类抗原125(carbohydrate antigen 125,CA125)、癌胚抗原(carcinoembryonic antigen,CEA)],治疗后随访2年,统计2组生存率。结果:观察组总有效率74.42%,明显高于对照组34.88%(P<0.01);与对照组比较,观察组治疗4周、12周后血清VEGF、TGF-β1、MMP-9、CYFRA21-1、CA125、CEA水平更低(P<0.05);观察组肝肾功能异常、白细胞减少、血小板减少发生率低于对照组(P<0.05)。观察组治疗后1年、2年生存率较对照组高(P<0.05)。结论:埃克替尼联合吉西他滨、顺铂化疗治疗非小细胞肺癌疗效显著、安全性高,能进一步抑制新生血管生成,提高治疗效益,延长生存周期。

关键词：埃克替尼非小细胞肺癌血管新生生存率

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当代美国拉美裔小说中的华人抗争者形象

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齐齐哈尔大学学报（哲学社会科学版） 2024年第8期 86-89,119页

作者：唐书哲中国矿业大学外国语言文化学院江苏徐州221116

当代美国拉美裔小说塑造了华人抗争者形象。加西亚的《猿猴之猎》通过互文性、文本与“副文本”和“潜文本”的互动,以及对“雌雄同体”概念的文学化利用,塑造了敢于反抗种族压迫和性别歧视的华人抗争者形象。迪亚斯的《奥斯卡·瓦奥短... 详细信息

当代美国拉美裔小说塑造了华人抗争者形象。加西亚的《猿猴之猎》通过互文性、文本与“副文本”和“潜文本”的互动,以及对“雌雄同体”概念的文学化利用,塑造了敢于反抗种族压迫和性别歧视的华人抗争者形象。迪亚斯的《奥斯卡·瓦奥短暂而奇妙的一生》以“讲述”和“呈现”相结合的方式,塑造了善良正直,勇于匡扶正义的华人抗争者形象。华人抗争者形象凸显拉美华人正直勇敢的精神品质,既折射了华人在特定历史时期拉美国家的生存经验和华人形象的多样性,又解构了美国白人文学中被动顺从华人刻板形象,对于建构正义勇敢的正面华人形象和国家形象具有重要参考意义。

关键词：美国拉美裔小说《猿猴之猎》《奥斯卡·瓦奥短暂而奇妙的一生》华人形象抗争者

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自适应聚类的图像块分级DCT混合数模无线传输方法

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通信学报 2024年第1期45卷 152-166页

作者：唐述杨鹏谢显中周广义李佳庆赵瑜重庆邮电大学计算机科学与技术学院重庆400065

提出了一种新颖的混合数模无线传输方法来实现高质量的图像传输。首先,从原始图像中减去先下采样后上采样的图像来得到残差层图像。其次,提出了一种自适应聚类的块分级离散余弦变换算法来有效去除残差层图像像素之间的相关性。最后,提... 详细信息

提出了一种新颖的混合数模无线传输方法来实现高质量的图像传输。首先,从原始图像中减去先下采样后上采样的图像来得到残差层图像。其次,提出了一种自适应聚类的块分级离散余弦变换算法来有效去除残差层图像像素之间的相关性。最后,提出了一种基于图像块等级的不等功率分配策略来进一步提升接收端的图像质量。大量的实验结果表明,所提方法在定性评估和定量度量两方面都明显优于现有较成功的混合数模图像无线传输方法。

关键词：混合数模传输图像无线传输伪模拟传输方法离散余弦变换不等功率分配

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