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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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帕金森病患者静态平衡的特征性分析

中国临床神经科学 2024年第1期32卷 36-45,110页

作者：王辰张敬一田闪李策王卫宁王坚朱玉连复旦大学附属华山医院康复医学科上海200040 国家神经疾病医学中心上海200040 复旦大学附属华山医院神经内科上海200040 上海体育大学上海200438

目的分析帕金森病(PD)患者静态平衡的特征性。方法选取2020年1月至2022年9月就诊于复旦大学附属华山医院神经内科和康复医学科收治的186例PD患者为研究对象,使用BalanceMotus^(TM)平衡能评估和训练系统平衡仪评估患者的静态平衡功能,并... 详细信息

目的分析帕金森病(PD)患者静态平衡的特征性。方法选取2020年1月至2022年9月就诊于复旦大学附属华山医院神经内科和康复医学科收治的186例PD患者为研究对象,使用BalanceMotus^(TM)平衡能评估和训练系统平衡仪评估患者的静态平衡功能,并对患者的平衡参数进行特征性分析。结果PD患者的发病年龄与平衡总分之间呈无相关性(P>0.05),平衡总分越高患者的病程越长(P<0.05),发病年龄45~65岁,病程2~11年。摆动前后加速度参数随着年龄增长而增加(P<0.05),性别与摆动左右加速度(P<0.05)以及前后加速度(P<0.05)差异有统计学意义;这两方面的表现女性优于男性。病程越长患者表现出的摆动面积也越大(P<0.05)。结论PD患者在前后方向的摆动幅度大于左右方向,且病程越长,平衡能力越差。在平衡得分及平衡参数方面,女性患者得分值及参数值较男性患者更低,平衡能力也相对较好。

关键词：帕金森病静态平衡特征分析

Simultaneously improving fabrication accuracy and interfacial bonding strength of multi-material projection stereolithographybymulti-step exposure

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International Journal of Smart and Nano Materials 2024年第2期15卷 387-404页

作者： Xinghong Deng Guangyu zhang yi Mo Zhiyuan Huang Dekai Zhou jing Qiao Longqiu Li State Key Laboratory of Robotics and System Harbin Institute of TechnologyHarbinChina School of Materials Science and Engineering Harbin Institute of TechnologyHarbinChina

Multi-material additive manufacturing(MMAM)takes full advantage of the ability to arbitrarily place materials of addi-tive manufacturing technology,enabling immense design free-dom and functional print *** MMAM technologies,projection stereolithography(PSL)exhibits a great balance of high resolution and fast printing ***,fabrication accuracy of multi-material PSL is hin-dered by large overcure used to strengthen interfacial bond-ing weakened by chemical affinity and material-exchange *** present a novel multi-step exposure method for multi-material PSL process to overcome this ***,the whole layer is moderately exposed producing over-cure of single-material PSL level to generate *** weakened interfaces are strengthened individually with addi-tional steps of *** multi-step exposure is integrated into the already efficient materials printing order of multi-material PSL *** depth and overcure of photocur-able resins are modeled and *** required to achieve sufficient interfacial bonding of single-material interfaces built through material-exchange process and multi-material interfaces with altering materials printing order is determined with tensile *** channels are used to compare fabrication accuracy of traditional single-step exposure and our multi-step exposure *** method can be widely applied in multi-material PSL to improve fabri-cation accuracy in a variety of applications including micro-fluidic devices.

关键词： Additive manufacturing multi-material projection stereolithography multi-step exposure interfacial bonding

Exploring Motor Imagery EEG: Enhanced EEG Microstate Analysis with GMD-Driven Density Canopy Method

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Computers, Materials & Continua 2024年第6期79卷 4659-4681页

作者： Xin Xiong jing zhang Sanli yi Chunwu Wang Ruixiang Liu Jianfeng He Faculty of Information Engineering and Automation Kunming University of Science and TechnologyKunming650500China College of Physics and Electronic Engineering Hanshan Normal UniversityChaozhou521041China Department of Clinical Psychology Second People’s Hospital of YunnanKunming650021China

The analysis of microstates in EEG signals is a crucial technique for understanding the spatiotemporal dynamics of brain electrical *** methods such as Atomic Agglomerative Hierarchical Clustering(AAHC),K-means clustering,Principal Component Analysis(PCA),and Independent Component Analysis(ICA)are limited by a fixed number of microstate maps and insufficient capability in cross-task feature *** these limitations,this study introduces a Global Map Dissimilarity(GMD)-driven density canopy K-means clustering *** innovative approach autonomously determines the optimal number of EEG microstate topographies and employs Gaussian kernel density estimation alongside the GMD index for dynamic modeling of EEG *** this advanced algorithm,the study analyzes the Motor Imagery(MI)dataset from the GigaScience database,*** findings reveal six distinct microstates during actual right-hand movement and five microstates across other task conditions,with microstate C showing superior performance in all task *** imagined movement,microstate A was significantly *** with existing algorithms indicates a significant improvement in clustering performance by the refined method,with an average Calinski-Harabasz Index(CHI)of 35517.29 and a Davis-Bouldin Index(DBI)average of ***,an information-theoretical analysis of the microstate sequences suggests that imagined movement exhibits higher complexity and disorder than actual *** utilizing the extracted microstate sequence parameters as features,the improved algorithm achieved a classification accuracy of 98.41%in EEG signal categorization for motor imagery.A performance of 78.183%accuracy was achieved in a four-class motor imagery task on the BCI-IV-2a *** results demonstrate the potential of the advanced algorithm in microstate analysis,offering a more effective tool for a deeper understanding of the spatiotemporal features of EE

关键词： EEG microstate motor imagery K-means clustering algorithm gaus sian kernel function shannon entropy Lempel-Ziv complexity

Silencing of Jumonji domain-containing 1C inhibits the osteogenic differentiation of bone marrow mesenchymal stem cells via nuclear factor-κB signaling

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World Journal of Stem Cells 2024年第2期16卷 151-162页

作者： jing-yi Li Ting-Ting Wang Li Ma Yu zhang Di Zhu Department of Medical Cosmetology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China Department of General Gerontology The First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052Henan ProvinceChina Department of Plastic Surgery China-Japan Friendship HospitalBeijing 100029China Senior Department of Hematology The Fifth Medical CentreGeneral Hospital of Chinese People’s Liberation ArmyBeijing 100071China Department of Orthopaedic Surgery Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China

BACKGROUND Osteoporosis is a common metabolic bone disorder induced by an imbalance between osteoclastic activity and osteogenic *** osteoporosis,bone mesenchymal stem cells(BMSCs)exhibit an increased ability to differentiate into adipocytes and a decreased ability to differentiate into osteoblasts,resulting in bone *** domain-containing 1C(JMJD1C)has been demonstrated to suppress *** To examine the effect of JMJD1C on the osteogenesis of BMSCs and the potential underlying *** BMSCs were isolated from mouse bone marrow *** Red O staining,Alizarin red staining,alkaline phosphatase staining and the expression of adipo-genic and osteogenic-associated genes were assessed to determine the differen-tiation of *** marrow-derived macrophages(BMMs)were incubated with receptor activator of nuclear factor-kappaΒligand to induce osteoclast differentiation,and osteoclast differen-tiation was confirmed by tartrate-resistant acid phosphatase *** related genes were measured via reverse transcription coupled to the quantitative polymerase chain reaction and western ***-linked immunosorbent assays were used to measure the levels of inflammatory cytokines,including tumor necrosis factor alpha,interleukin-6 and interleukin-1 *** The osteogenic and adipogenic differentiation potential of BMSCs isolated from mouse bone marrow samples was ***1C mRNA and protein expression was upregulated in BMSCs after osteoblast induction,while p-nuclear factor-κB(NF-κB)and inflammatory cytokines were not significantly *** of JMJD1C repressed osteogenic differentiation and enhanced NF-κB activation and inflammatory cytokine release in ***,JMJD1C expression decreased during BMM osteoclast *** The JMJD1C/NF-κB signaling pathway is potentially involved in BMSC osteogenic differentiation and may play vital roles in the pathogenesis of osteoporosis.

关键词： Osteoporosis Mesenchymal stem cells Osteogenesis Jumonji domain-containing 1C Nuclear factor-κB

克拉屈滨联合白消安和阿糖胞苷预用药在异基因造血干细胞移植治疗急性髓系白血病中的作用

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中国药物应用与监测 2024年第5期21卷 499-503页

作者：刘苍春及月茹张静宜高晓彤秦炜炜空军军医大学第二附属医院血液科西安710083

目的探讨在异基因造血干细胞移植(allo-HSCT)治疗急性髓系白血病(AML)手术患者予以克拉屈滨、白消安、阿糖胞苷联合用药预处理的临床疗效及其安全性。方法回顾性分析2016年8月至2024年2月在空军军医大学第二附属医院予以allo-HSCT治疗... 详细信息

目的探讨在异基因造血干细胞移植(allo-HSCT)治疗急性髓系白血病(AML)手术患者予以克拉屈滨、白消安、阿糖胞苷联合用药预处理的临床疗效及其安全性。方法回顾性分析2016年8月至2024年2月在空军军医大学第二附属医院予以allo-HSCT治疗的79例AML患者的资料,随访至2024年5月30日,所有患者移植前接受克拉屈滨、白消安、阿糖胞苷3药预处理方案。分析植入情况、急/慢性移植物抗宿主病(a/cGVHD)的发生率、感染发生、复发率、预处理相关毒性反应、总生存期(OS)、无进展生存期(PFS)及影响预后的危险因素。结果79例AML患者粒系植入的时间为13(7,20)d,血小板植入时间为14(8,22)d;10例发生急性GVHD,15例发生慢性GVHD,64例供体为单倍体患者中出现22例GVHD,发生率为34.38%,15例供体为全合患者中出现3例GVHD,发生率为20.00%。移植后100 d内,3例患者因感染死亡,1例患者因脑出血死亡,1年累积复发率和移植相关死亡率分别为16.45%和5.06%,1年的预期OS及PFS分别为80.7%和77.5%。多因素回归可以观察到移植后维持治疗、移植前微小残留病灶(MRD)阴性是影响患者生存的危险因素(均P<0.05)。结论对于有allo-HSCT指征的AML患者,采用克拉屈滨、白消安、阿糖胞苷三药预处理方案可减轻预处理相关毒性,安全性良好,结合移植后维持治疗,移植复发率较低。基金国家自然科学基金(82200171)

关键词：急性髓系白血病克拉屈滨白消安阿糖胞苷异基因造血干细胞移植预处理方案

Comprehensive evaluation of rare case:From diagnosis to treatment of a sigmoid Schwannoma:A case report

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World Journal of Gastrointestinal Oncology 2024年第1期16卷 244-250页

作者： jing-yi Li Xi-Zhuang Gao Jian zhang Xiang-Zheng Meng yi-Xian Cao Kun Zhao Clinical Medical College of Jining Medical University Jining Medical UniversityJining 272000Shandong ProvinceChina Department of Gastroenterology The First People's Hospital of JiningJining 272000Shandong ProvinceChina

BACKGROUND Schwannomas are uncommon tumors originating from Schwann cells,forming the neural *** account for approximately 2%-6%of all mesenchymal tumors and are most commonly identified in peripheral nerve trunks,with rarity in the gastrointestinal *** gastrointestinal locations,the stomach harbors the majority of nerve sheath tumors,while such occurrences in the sigmoid colon are exceptionally *** SUMMARY This study presented a clinical case involving a 60-year-old female patient who,during colonoscopy,was diagnosed with a submucosal lesion that was later identified as a nerve sheath *** patient underwent surgical resection,and the diagnosis was confirmed through *** study highlighted an exceptionally uncommon occurrence of a nerve sheath tumor in the sigmoid colon,which was effectively managed within our ***,a comprehensive review of relevant studies was *** The preoperative diagnosis of nerve sheath tumors poses challenges,as the definitive diagnosis still relies on pathology and *** categorized as benign,these tumors have the potential to demonstrate malignant ***,the optimal treatment approach entails the complete surgical excision of the tumor,ensuring the absence of residual lesions at the margins.

关键词： Schwannoma Gastrointestinal stromal tumors Treatment Sigmoid colon Case report

Discussion on event horizon and quantum ergosphere of dynamic rotating black holes in a tunneling framework

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Chinese Physics B 2012年第7期21卷 162-167页

作者：刘佰生张靖仪 Center for Astrophysics Guangzhou University

According to the Parikh–Wilczek tunneling framework, the locations of the local horizons of dynamic rotating black holes can be worked out. The calculations show that the quantum ergosphere of the black hole is identical with the tunneling potential barrier set by particle’s tunneling across the relevant horizon. Then, some discussions on the origin of the Hawking radiation will be shown.

关键词： Hawking radiation dynamic rotating black holes tunneling framework quantum ergosphere

Syntheses and properties of associative acrylamide copolymers containing short hydrophobic chains used in a friction reducer for slick-water fracturing

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Petroleum Science 2024年第3期21卷 1889-1901页

作者： Ya-Xing Dai Xian-Li zhang Si-Yuan Liu Feng-Run-Ze zhang yi-Xi zhang Yu-Tong Sang jing-Xi Zheng Zhao-Sheng Liu Peng zhang College of Chemistry and Chemical Engineering Chongqing University of Science and TechnologyChongqing401331China College of Ecology and Environment Chongqing Resources and Environmental Protection of UniversityChongqing401331China China China Property Project Department of Dezhou Mining Property Service CenterShengli Oilfield Company of SinopecDezhou253000ShandongChina

Two allyldimethylalkyl quaternary ammonium salt(AQAS)monomers,N,N-dimethylallylphenylpropylammonium bromide(AQAS1)and N,N-dimethylallylnonylammonium bromide(AQAS2),were synthesized and used to prepare modified polyacrylamide *** new drag reducers were synthesized from acrylamide(AM),sodium acrylate(Na AA)and a cationic modified monomer(AQAS1 or AQAS2)via aqueous solution polymerization,and the copolymers were named P(AM/Na AA/AQAS1)and P(AM/Na AA/AQAS2),*** structures of the drag reduction agents were confirmed by IR and1H NMR *** molecular weight(Mw)of P(AM/Na AA/AQAS1)was 1.79×10^(6)g/*** the copolymer concentration was 1000 mg/L and the flow rate was 45 L/min,in fresh water the highest drag reduction rate was 75.8%,in 10,000 mg/L Na Cl solution the drag reduction rate decreased to 72.9%.The molecular weight of P(AM/Na AA/AQAS2)was 3.17×10^(6)g/*** the copolymer concentration was500 mg/L and the flow rate was 45 L/min,the drag reduction rate reached 75.2%,and in 10,000 mg/L Na Cl solution the drag reduction rate was 73.3%,decreased by approximately 1.9%.The drag reduction rate for partially hydrolyzed polyacrylamide(HPAM)was also investigated,and the results showed that the drag reduction rates for 500 and 1000 mg/L HPAM solutions were merely 43.2%and 49.0%in brine,*** with HPAM,both of the above copolymers presented better drag reduction capacities.

关键词： Shale gas Slick water Drag reducer Modified monomer Copolymerization