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Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

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World Journal of Clinical Cases 2024年第8期12卷 1544-1548页

作者： Fei Hou Yan Li hua jin Department of Prenatal Diagnosis Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very *** SUMMARY Two pregnant women with abnormal prenatal screening results were *** was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 *** other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of *** number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 *** parental counseling,one woman continued the pregnancy,and the other woman terminated the *** In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ***,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

关键词： Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis Prenatal diagnosis Case report

Tau truncation in the pathogenesis of Alzheimer's disease: a narrative review

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Neural Regeneration Research 2024年第6期19卷 1221-1232页

作者： Dandan Chu Xingyue Yang jing Wang Yan Zhou jin-hua Gu jin Miao Feng Wu Fei Liu Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products Coinnovation Center of Neuroregeneration Nantong University 2. Department of Pharmacology School of Pharmacy Nantong University 3. Department of Biochemistry and Molecular Biology School of Medicine Nantong University 4. Department of Clinical Pharmacy Affiliated Maternity and Child Health Care Hospital of Nantong University Nantong University 5. Laboratory of Animal Center Nantong University Department of Neurochemistry Inge Grundke-Iqbal Research Floor New York State Institute for Basic Research in Developmental Disabilities

Alzheimer’s disease is characterized by two major neuropathological hallmarks—the extracellular β-amyloid plaques and intracellular neurofibrillary tangles consisting of aggregated and hyperphosphorylated Tau protein. Recent studies suggest that dysregulation of the microtubuleassociated protein Tau, especially specific proteolysis, could be a driving force for Alzheimer’s disease neurodegeneration. Tau physiologically promotes the assembly and stabilization of microtubules, whereas specific truncated fragments are sufficient to induce abnormal hyperphosphorylation and aggregate into toxic oligomers, resulting in them gaining prion-like characteristics. In addition, Tau truncations cause extensive impairments to neural and glial cell functions and animal cognition and behavior in a fragment-dependent manner. This review summarizes over 60 proteolytic cleavage sites and their corresponding truncated fragments, investigates the role of specific truncations in physiological and pathological states of Alzheimer’s disease, and summarizes the latest applications of strategies targeting Tau fragments in the diagnosis and treatment of Alzheimer’s disease.

关键词： Alzheimer's disease cleavage site diagnosis marker neurofibrillary tangles phosphorylation Tau Tau aggregation therapy truncation

Applications of single-cell RNA sequencing in spermatogenesis and molecular evolution

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Zoological Research 2024年第3期45卷 575-585页

作者： Wen-Bo Chen Meng-Fei Zhang Fan Yang jin-Lian hua College of Veterinary Medicine Shaanxi Centre of Stem Cells Engineering&TechnologyNorthwest A&F UniversityYanglingShaanxi 712100China Key Laboratory of Livestock Biology Northwest A&F UniversityYanglingShaanxi 712100China

Spermatogenic cell heterogeneity is determined by the complex process of spermatogenesis ***,effectively revealing the regulatory mechanisms underlying mammalian spermatogenic cell development and differentiation via traditional methods is *** in technology have led to the emergence of many single-cell transcriptome sequencing protocols,which have partially addressed these *** this review,we detail the principles of 10x Genomics technology and summarize the methods for downstream analysis of single-cell transcriptome sequencing ***,we explore the role of single-cell transcriptome sequencing in revealing the heterogeneity of testicular ecological niche cells,delineating the establishment and disruption of testicular immune homeostasis during human spermatogenesis,investigating abnormal spermatogenesis in humans,and,ultimately,elucidating the molecular evolution of mammalian spermatogenesis.

关键词： Single-cell RNA sequencing(scRNA-seq) Spermatogenesis Molecular evolution Sertoli cell

Experimental and numerical study of combustion characteristics of ammonia-hydrogen-air swirling flame with/without secondary air injection

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Chinese Journal of Aeronautics 2024年第4期37卷 243-255页

作者： Chunyu LIU Chenhu GAO Yue huaNG hua jin Dan ZHAO Wenjiang XU Yancheng YOU School of Aerospace Engineering Xiamen UniversityXiamen 361005China School of Mechanical Engineering Shanghai Jiao Tong UniversityShanghai 200240China Department of Mechanical Engineering University of CanterburyChristchurch 8041New Zealand

Ammonia (NH_(3)) is currently considered to be a potential carbon-free alternative fuel,and its large-scale use as such would certainly decrease greenhouse gas emissions and meet increasingly stringent emission *** the low flame propagation speed and high NO production of NH_(3) hinder its direct application as a renewable fuel,co-combustion of NH_(3)–H_(2)is an effective way to overcome these *** this study,the combustion characteristics of NH_(3)–H_(2)swirling flames under different equivalence ratios and H_2blending ratios conditions are both numerically and experimentally ***,the One-Dimensional (1D) laminar flame computation presents a comparison base and the Three-Dimensional (3D) numerical simulation yields detailed flame property ***,the high-speed camera takes instantaneous swirl flame images and the gas analyzer measures the NO emission at the exit plane of the flame *** and quantitative analysis is performed on the flame structure and NO emission for a series of NH_(3)–H_(2)swirl *** variation trends of the NO emission calculated using different techniques agree very *** quantitative results show that the NO emissions are much higher at lean equivalence ratios than those at rich equivalence ratios,and such difference is closely related to the combustion flame ***,it is shown that the utilization of secondary air injection can achieve a significant reduction in NO emissions at the exit of the combustion chamber at equivalence ratios less than or equal to 0.9.

关键词： Ammonia combustion Swirling flow NO emission characteristics Secondary combustion Chemical reaction mechanism

Trends and hotspots in gastrointestinal neoplasms risk assessment: A bibliometric analysis from 1984 to 2022

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2842-2861页

作者： Qiang-Qiang Fu Le Ma Xiao-Min Niu hua-Xin Zhao Xu-hua Ge hua jin De-hua Yu Sen Yang Department of General Practice Yangpu HospitalSchool of MedicineTongji UniversityShanghai 200090China Shanghai General Practice and Community Health Development Research Center Shanghai 200090China Department of Shanghai Lung Cancer Center Shanghai Chest HospitalShanghai Jiao Tong University School of MedicineShanghai 200030China Department of Oncology Shanghai Tenth People’s HospitalTongji University School of MedicineShanghai 200090China

BACKGROUND Gastrointestinal neoplasm(GN)significantly impact the global cancer burden and mortality,necessitating early detection and *** the evolution and current state of research in this field is *** To conducts a comprehensive bibliometric analysis of publications from 1984 to 2022 to elucidate the trends and hotspots in the GN risk assessment research,focusing on key contributors,institutions,and thematic *** This study conducted a bibliometric analysis of data from the Web of Science Core Collection database using the"bibliometrix"R package,VOSviewer,and *** analysis focused on the distribution of publications,contributions by institutions and countries,and trends in *** methods included data synthesis,network analysis,and visualization of international collaboration *** This analysis of 1371 articles on GN risk assessment revealed a notable evolution in terms of research focus and *** highlights the United States'critical role in advancing this field,with significant contributions from institutions such as Brigham and Women's Hospital and the National Cancer *** last five years,substantial advancements have been made,representing nearly 45%of the examined *** rates have dramatically increased,from 20 articles in 2002 to 112 in 2022,reflecting intensified research *** study underscores a growing trend toward interdisciplinary and international collaboration,with the Journal of Clinical Oncology standing out as a key publication *** shift toward more comprehensive and collaborative research methods marks a significant step in addressing GN *** This study underscores advancements in GN risk assessment through genetic analyses and machine learning and reveals significant geographical disparities in research *** calls for enhanced global collaboration and integration of artificial intelligence to improve cancer p

关键词： Gastrointestinal neoplasms Bibliometric analysis Risk assessment Network analysis Research trends

Coherent beam combining of two all‑PM thulium‑doped fiber chirped pulse amplifiers

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Frontiers of Optoelectronics 2024年第2期17卷 33-42页

作者： Bo Ren Hongxiang Chang Can Li Tao Wang Kaikai jin Jiayi Zhang Kun Guo Rongtao Su jinyong leng Pu Zhou College of Advanced Interdisciplinary Studies National University of Defense TechnologyChangsha 410073China Nanhu Laser Laboratory National University of Defense TechnologyChangsha 410073China Hunan Provincial Key Laboratory of High Energy Laser Technology National University of Defense TechnologyChangsha 410073China

In this paper,we report a coherent beam combining(CBC)system that involves two thulium-doped all-polarization maintaining(PM)fiber chirped pulse *** phase-locking the two channels via a fiber stretcher by using the stochastic parallel gradient descent(SPGD)algorithm,a maximum average power of 265 W is obtained,with a CBC efficiency of 81%and a residual phase error of λ/*** de-chirping by a pair of diffraction gratings,the duration of the combined laser pulse is compressed to 690 *** into account the compression efficiency of 90%and the main peak energy proportion of 91%,the corresponding peak power is calculated to be 4 *** laser noise characteristics before and after CBC are examined,and the results indicate that the CBC would degrade the low frequency relative intensity noise(RIN),of which the integration is 1.74%in[100 Hz,2 MHz]at the maximum combined output *** addition,the effects of the nonlinear spectrum broadening during chirped pulse amplification on the CBC efficiency are also investigated,showing that a higher extent of pulse stretching is effective in alleviating the spectrum broadening and realizing a higher output power with decent combining efficiency.

关键词： Coherent beam combining Thulium-doped fiber laser High-average power Chirped pulse amplifier

Recent progress of Pt-based oxygen reduction reaction catalysts for proton exchange membrane fuel cells

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Rare Metals 2024年第6期43卷 2444-2468页

作者： Feng Zhan Kun-Song Hu jin-hua Mai Li-Sheng Zhang Zhen-Guo Zhang huan He Xin-hua Liu School of Resources Environment and MaterialsGuangxi UniversityNanning530004China School of Transportation Science and Engineering Beihang UniversityBeijing 102206China IDTECH(Suzhou)Co.Ltd Suzhou 215217China Dyson School of Design Engineering Imperial College LondonLondon SW72AZUK

With the increasing consumption of fossil fuels,proton exchange membrane fuel cells(PEMFCs)have attracted considerable attention as green and sustainable energy conversion *** slow kinetics of the cathodic oxygen reduction reaction(ORR)has a major impact on the performance of PEMFCs,and although platinum(Pt)can accelerate the reaction rate of the ORR,the scarcity and high cost of Pt resources still limit the development of ***,the development of low-cost high-performance ORR catalysts is essential for the commercial application and development of *** paper reviews the research progress of researchers on Pt-based ORR catalysts in recent years,including Pt/C catalysts,Pt-based alloy catalysts,Pt-based intermetallic compounds,and Pt-based single-atom catalysts(SACs),with a focus on Pt-based alloy catalysts with different *** described in detail the difficulties and solutions in the research process of various ORR catalysts and explained the principle of their activity enhancement with density functional theory(DFT).In addition,an outlook on the development of Pt-based catalysts is given,and reducing the amount of Pt used and improving the performance of catalysts are the directions to work on in the coming period.

关键词： Pt-based catalysts PEMFCs Pt-based intermetallic compounds Single-atom catalysts

Effect of navigation endoscopy combined with threedimensional printing technology in the treatment of orbital blowout fractures

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 570-576页

作者： jin-Hai Yu Yao-hua Wang Qi-hua Xu Chao Xiong An-An Wang Hong-Fei Liao School of Optometry Jiangxi Medical CollegeNanchang UniversityNanchang 330006Jiangxi ProvinceChina The Affiliated Eye Hospital Jiangxi Medical CollegeNanchang UniversityNanchang 330006Jiangxi ProvinceChina Jiangxi Clinical Research Center for Ophthalmic Disease Nanchang 330006Jiangxi ProvinceChina Jiangxi Research Institute of Ophthalmology and Visual Science Nanchang 330006Jiangxi ProvinceChina Jiangxi Provincial Key Laboratory for Ophthalmology Nanchang 330006Jiangxi ProvinceChina

●AIM:To explore the combined application of surgical navigation nasal endoscopy(NNE)and three-dimensional printing technology(3DPT)for the adjunctive treatment of orbital blowout fractures(OBF).●METHODS:Retrospective analysis was conducted on the data of patients with OBF who underwent surgical treatment at the Affiliated Eye Hospital of Nanchang University between July 2012 and November *** control group consisted of patients who received traditional surgical treatment(n=43),while the new surgical group(n=52)consisted of patients who received NNE with *** difference in therapeutic effects between the two groups was evaluated by comparing the duration of the operation,best corrected visual acuity(BCVA),enophthalmos difference,recovery rate of eye movement disorder,recovery rate of diplopia,and incidence of postoperative complications.●RESULTS:The study included 95 cases(95 eyes),with 63 men and 32 *** patients’age ranged from 5 to 67y(35.21±15.75y).The new surgical group and the control group exhibited no statistically significant differences in the duration of the operation,BCVA and enophthalmos *** recovery rates of diplopia in the new surgical group were significantly higher than those in the control group at 1mo[OR=0.03,95%CI(0.01–0.15),P<0.0000]and 3mo[OR=0.11,95%CI(0.03–0.36),P<0.0000]***,the recovery rates of eye movement disorders at 1 and 3mo after surgery were OR=0.08,95%CI(0.03–0.24),P<0.0000;and OR=0.01,95%CI(0.00–0.18),P<*** incidence of postoperative complications was lower in the new surgical group compared to the control group[OR=4.86,95%CI(0.95–24.78),P<0.05].●CONCLUSION:The combination of NNE and 3DPT can shorten the recovery time of diplopia and eye movement disorder in patients with OBF.

关键词： orbital blowout fracture three-dimensional printing endoscopy surgical navigation

C_(Ar)-Br bond cleavage via cooperative EnT/NHC catalysis: mild access to indolines

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Science China Chemistry 2024年第3期67卷 922-927页

作者： Yi-Xiong Dong Cao-Bo Li Ming-Lei jin Zhong-hua Gao Song Ye Beijing National Laboratory for Molecular Sciences CAS Key Laboratory of Molecular Recognition and FunctionCAS Research/Education Center for Excellence in Molecular SciencesInstitute of ChemistryChinese Academy of SciencesBeijing 100190China University of Chinese Academy of Sciences Beijing 100049China

The cooperative visible-light mediated and NHC-catalyzed dearomative arylation-acylation of N-(2-bromobenzoyl)indoles with aldehydes was developed, affording the corresponding highly functionalized polycyclic indolines in moderate to good yields with exclusive diastereoselectivities. Mechanism investigations support the activation of CAr-Br bond via visible-light mediated energy transfer(EnT) and the following single-electron-transfer(SET) with Breslow intermediate under NHC catalysis to give key aryl radical and ketyl radical. This protocol demonstrates the cleavage of CAr-Br bond under mild cooperative EnT/NHC catalysis.

关键词： energy transfer N-heterocyclic carbenes photocatalysis aryl radicals indolines