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Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

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Chinese Medical Journal 2019年第2期132卷 145-153页

作者： Lu-Jiao Li Fang Lyu yu-wen song Ou Wang Yan Jiang Wei-Bo Xia Xiao-Ping Xing Mei Li Department of Endocrinology National Health Commission Key Laboratory of EndocrinologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China

Background:Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen.This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI.Methods:A total of 161 patients who were diagnosed as OI in Department of Endocrinology of Peking Union Medical College Hospital from January 2010 to December 2017 were included in the study.The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing.A new clinical scoring system was developed to quantitatively assess the clinical severity of OI and the genotype-phenotype relationship was analyzed.The independent sample t-test, analysis of variance, Mann-Whitney U-test, Chi-squared test, Pearson correlation, and multiple linear regression were applied for statistical analyses.Results:Among 161 patients with OI, 32.9% missense mutations, 16.8% non-sense mutations, 24.2% splice-site mutations, 24.8% frameshift mutations, and 1.2% whole-gene deletions were identified, of which 38 variations were novel.These mutations led to 53 patients carrying qualitative defects and 67 patients carrying quantitative defects in type I collagen.Compared to patients with quantitative mutations, patients with qualitative mutations had lower alkaline phosphatase level (296 [132, 346] U/L vs.218 [136, 284] U/L, P=0.009) and higher clinical score (12.2 ± 5.3 vs.7.4 ± 2.4, P<0.001), denoting more severe phenotypes including shorter stature, lower bone mineral density, higher fracture frequency, more bone deformity, vertebral compressive fractures, limited movement, and dentinogenesis imperfecta (DI).Patients would not present with DI if the glycine substitutions happened before the 79th amino acid in triple helix of α1 chains .Conclusions:This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI.This new quantitative analysis of

关键词： Osteogenesis imperfecta COL1A1 Clinical scoring system Genotype Phenotype

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Mammals of Gaoligong Mountain in China:Diversity,distribution,and conservation

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Zoological Research(Diversity and Conservation) 2024年第1期1卷 3-19页

作者： Quan Li Xue-You Li wen-Qiang Hu wen-yu song Shui-Wang He Hong-Jiao Wang Zhe-Chang Hu Meng-Cheng Li Kenneth Otieno Onditi Zhong-Zheng Chen Chang-Zhe Pu yun Xiong Cai-Hong Rao Fu-You Zhang Chang-Sheng Zuo Xue-Long Jiang State Key Laboratory of Genetic Resources and Evolution&yunnan Key Laboratory of Biodiversity and Ecological Conservation of Gaoligong Mountain Kunming Institute of ZoologyChinese Academy of SciencesKunmingYunnan 650223China Gaoligong Mountain Forest Ecosystem Observation and Research Station of yunnan Province&Dulongjiang Forest Ecosystem Research Station KunmingYunnan 650223China University of Chinese Academy of Sciences Beijing 101408China Vector Laboratory Institute of Pathogens and VectorsYunnan Provincial Key Laboratory for Zoonosis Control and PreventionDali UniversityDaliYunnan 671000China School of Ecology and Environment Anhui Normal UniversityWuhuAnhui 241002China Gongshan Administrative Sub-Bureau of Gaoligongshan National Nature Reserve NujiangYunnan 673500China Fugong Administrative Sub-Bureau of Gaoligongshan National Nature Reserve NujiangYunnan 673400China Baoshan Administrative Bureau of Gaoligongshan National Nature Reserve BaoshanYunnan 678000China Administrative Bureau of Tongbiguan Provincial Nature Reserve DehongYunnan 679300China

Gaoligong Mountain(hereafter,GLGM)is located at the intersection of Myanmar and China’s yunnan Province and Xizang Zizhiqu,and spans three globally significant biodiversity hotspots:the Himalayas,Indo-Burma,and the Mountains of Southwest China.Although surveys of mammals in this ecologically important region have a long history,there is no comprehensive systematic checklist and distribution account of the mammals of GLGM.Here,we compiled a mammal species checklist of GLGM based on thorough field investigations and literature reviews.We also examined specimen collections and applied camera trapping surveys to explore the region’s mammal diversity and distribution patterns.We recorded 212 mammal species in nine orders,33 families,and 119 genera,which accounts for 30.5%of China’s mammal species,and a high proportion of nationally protected(50)and globally threatened(29)species.Mammal species richness showed a symmetrical unimodal curve along the elevation gradient,peaking at intermediate elevations(2000 to 2500 m above sea level(asl)),and increasing generally from south to north,slightly higher in the east slope than in the west.Cluster analysis and non-metric multidimensional scaling revealed three distinct elevational assemblages(3500 m asl)and significant south-to-north variation,but no substantial differences between the east and west slopes.The GLGM present a unique conservation value due to the high proportions of rare and endangered mammal species,complex faunal composition,high endemism,and being the distribution boundary for many species.This study is an important phased account of mammal diversity in GLGM and makes a prospect for future research.

关键词： Biodiversity hotspot Eastern Himalaya Gaoligong Mountain Endemism Mammal conservation Hengduan Mountains

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Divergent defluorocarboxylation of α-CF_(3) alkenes with formate via photocatalyzed selective mono-or triple C-F bond cleavage

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Science China Chemistry 2024年第1期67卷 368-373页

作者： Xing-yu Wang Pei Xu wen-wen Liu Hao-Qiang Jiang song-Lei Zhu Dong Guo Xu Zhu Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy School of PharmacyXuzhou Medical UniversityXuzhou 22100China

Unprecedented divergent synthesis of gem-difluorovinylacetic acid and glutaric acid derivatives fromα-CF_(3)alkenes with formate as the carbonyl source was disclosed.The reaction can undergo selective mono-or triple C-F bond cleavage by simply switching the photocatalyst and hydrogen atom transfer(HAT)catalyst under visible-light-induced conditions at room temperature.Foramte acts as both the C1 source and the reductant through the generation of CO_(2)^(·-)species,which underwent Giese radical addition to electron-deficient alkenes to trigger the consecutive C-F bond cleavage and carboxylation process.

关键词： C-F bond activation defluorocarboxylation carbon dioxide radical anion visible light

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Left lower lobe sleeve resection for the clear cell variant of pulmonary mucoepidermoid carcinoma:A case report

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World Journal of Clinical Cases 2024年第8期12卷 1422-1429页

作者： Xiao-Hui yu wen-Xiang Wang De-song Yang Liang-Hui Gong Department of Pathology Hunan Cancer Hospital and The Affiliated Cancer Hospital of Xiangya School of MedicineCentral South UniversityChangsha 410031Hunan ProvinceChina The Second Department of Thoracic Surgery Hunan Cancer Hospital and The Affiliated Cancer Hospital of Xiangya School of MedicineCentral South UniversityChangsha 410031Hunan ProvinceChina

BACKGROUND Pulmonary mucoepidermoid carcinoma(PMEC)is a rare malignancy that arises from minor salivary glands within the tracheobronchial tree.The clear cell variant of PMEC is exceptionally uncommon and presents notable diagnostic challenges,primarily attributable to its morphological similarity to other tumors containing clear cells.CASE SUMMARY A 22-year-old male,formerly in good health,came in with a two-month duration of persistent cough and production of sputum.Subsequent imaging and bronchoscopy examinations revealed a 2 cm tumor in the distal left main bronchus,which resulted in complete atelectasis of the left lung.Further assessment via positron emission tomography/computed tomography scans and endoscopic biopsy confirmed the primary malignant nature of the tumor,charac-terized by clear cell morphology in most of the tumor cells.The patient underwent a left lower lobe sleeve resection accompanied by systematic mediastinal lymph node dissection.Molecular pathology analysis subsequently revealed a CRTC3-MAML2 gene fusion,leading to a definitive pathological diagnosis of the clear cell variant of PMEC,staged as T2N0M0.After surgery,the patient experienced a smooth recovery and exhibited no signs of recurrence during the one-and-a-half-year follow-up period.CONCLUSION This article describes an unusual case of a clear cell variant of PMEC characterized by the presence of a CRTC3-MAML2 gene fusion in a 22-year-old male.The patient underwent successful left lower lobe sleeve resection.This case underscores the distinctive challenges associated with diagnosing and treating this uncommon malignancy,underscoring the importance of precise diagnosis and personalized treatment strategies.

关键词： Pulmonary mucoepidermoid carcinoma Clear cell variant CRTC3-MAML2 gene fusion Sleeve lobectomy Case report

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Low profile cavity-embedded ultra-wideband UHF array antenna with end-fire beams

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Journal of Electronic Science and Technology 2024年第2期22卷 24-35页

作者： Huan He wen-song Wang Southwest China Institute of Electronic Technology Chengdu610036China School of Electrical and Electronic Engineering Department Nanyang Technological UniversitySingapore639798Singapore

A low-profile,vertically polarized,ultra-wideband array antenna with end-fire beams operating in an ultra-high frequency(UHF)band is developed in this paper.The array antenna consists of 1×16 log-periodic top-hat loaded monopole antenna arrays and is feasible to embed into a shallow cavity to further reduce the array height.Capacitance is introduced in the proposed antenna element to reduce profile height and the rectangular top hats are carefully designed to minimize the transverse dimension.Simulated results show that when the antenna array operates in a frequency range of 300 MHz-900 MHz,the end-fire radiation pattern achieves±45°scanning range in the horizontal plane.Then prototypes of the proposed end-fire antenna element and a uniformly spaced linear array(1×2)are fabricated and validated.The end-fire antenna array should be suitable for airborne applications where low-profile and conformal scanning phased antenna arrays with end-fire radiations are required.This design is attractive for airborne platform applications that are used to search,discover,identify,and scout the aerial target with vertically polarized beams.

关键词： End-fire radiation Low-profile Vertical polarization Log-periodic array

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Design Strategies for Aqueous Zinc Metal Batteries with High Zinc Utilization: From Metal Anodes to Anode-Free Structures

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Nano-Micro Letters 2024年第4期16卷 305-349页

作者： Xianfu Zhang Long Zhang Xinyuan Jia wen song Yongchang Liu School of Materials Science and Engineering University of Science and Technology Beijing30 College RoadBeijing 100083People’s Republic of China Beijing Advanced Innovation Center for Materials Genome Engineering Institute for Advanced Materials and TechnologyState Key Laboratory for Advanced Metals and MaterialsUniversity of Science and Technology BeijingBeijing 100083People’s Republic of China

Aqueous zinc metal batteries(AZMBs)are promising candidates for next-generation energy storage due to the excellent safety, environmental friendliness, natural abundance, high theoretical specific capacity, and low redox potential of zinc(Zn) metal. However,several issues such as dendrite formation, hydrogen evolution, corrosion, and passivation of Zn metal anodes cause irreversible loss of the active materials. To solve these issues, researchers often use large amounts of excess Zn to ensure a continuous supply of active materials for Zn anodes. This leads to the ultralow utilization of Zn anodes and squanders the high energy density of AZMBs. Herein, the design strategies for AZMBs with high Zn utilization are discussed in depth, from utilizing thinner Zn foils to constructing anode-free structures with theoretical Zn utilization of 100%, which provides comprehensive guidelines for further research. Representative methods for calculating the depth of discharge of Zn anodes with different structures are first summarized. The reasonable modification strategies of Zn foil anodes, current collectors with pre-deposited Zn, and anode-free aqueous Zn metal batteries(AF-AZMBs) to improve Zn utilization are then detailed. In particular, the working mechanism of AF-AZMBs is systematically introduced. Finally, the challenges and perspectives for constructing high-utilization Zn anodes are presented.

关键词： Aqueous zinc metal batteries Zinc anodes High zinc utilization Depth of discharge Anode-free structures

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Effective time, correction speed and termination time of hemiepiphysiodesis in children

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World Journal of Orthopedics 2024年第1期15卷 1-10页

作者： Jian-Fa Zeng yu-Yin Xie Can Liu Zhen-Qi song Zheng Xu Zhong-wen Tang Jie wen Sheng Xiao Department of Pediatric Orthopedics Hunan Provincial People's HospitalThe First Affiliated Hospital of Hunan Normal UniversityChangsha 410013Hunan ProvinceChina Department of Anatomy Hunan Normal University school of MedicineChangsha 410003Hunan ProvinceChina

In children with asymmetric growth on the medial and lateral side of limbs,if there still remains growth potential,the guided growth technique of hemiepiphysiodesis on one side of the epiphysis is recognized as a safe and effective method.However,when the hemi-epiphysiodesis start to correct the deformities,how many degrees could hemi-epiphysiodesis bring every month and when to remove the hemi-epiphysiodesis implant without rebound phenomenon are still on debate.This article reviews the current studies focus on the effective time,correction speed and termination time of hemi-epiphysiodesis.

关键词： Hemi-epiphysiodesis Percutaneous epiphysiodesis Transphyseal screws Eight plate

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Roles of combined femoral and acetabular anteversion in pathological changes of hip dysplasia and hip reconstructive surgery

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World Journal of Orthopedics 2024年第5期15卷 390-399页

作者： Can Liu Zheng Xu Jian-Fa Zeng Zhen-Qi song yu-Yin Xie Zhong-wen Tang Jie wen Sheng Xiao Department of Anatomy Hunan Normal University School of MedicineChangsha 410003Hunan ProvinceChina Department of Pediatric Orthopedics Hunan Provincial People's HospitalThe First Affiliated Hospital of Hunan Normal UniversityChangsha 410013Hunan ProvinceChina

Combined femoral and acetabular anteversion is the sum of femoral and acetabular anteversion,representing their morphological relationship in the axial plane.Along with the increasing understanding of hip dysplasia in recent years,numerous scholars have confirmed the role of combined femoral and acetabular anteversion in the pathological changes of hip dysplasia.At present,the reconstructive surgery for hip dysplasia includes total hip replacement and redirectional hip preservation surgery.As an important surgery index,combined femoral and acetabular anteversion have a crucial role in these surgeries.Herein,we discuss the role of combined femoral and acetabular anteversion in pathological changes of hip dysplasia,total hip replacement,and redirectional hip preservation surgery.

关键词： Combined anteversion Femoral anteversion Acetabular anteversion Hip dysplasia Hip preservation surgery Total hip replacement

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Trial application of the envelope method to the potential ambiguity problem

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Nuclear Science and Techniques 2024年第1期35卷 73-80页

作者： Li-yuan Hu yu-Shou song Fundamental Science on Nuclear Safety and Simulation Technology Laboratory Harbin Engineering UniversityHarbin 150001China College of Nuclear Science and Technology Harbin Engineering UniversityHarbin 150001China Key Laboratory of Nuclear Safety and Advanced Nuclear Energy Technology Ministry of Industry and Information TechnologyHarbin 150001China

The optical potential ambiguity is a long-standing problem in the analysis of elastic scattering data.For a specific collid-ing system,ambiguous potential families can lead to different behaviors in the nearside and farside scattering components.By contrast,the envelope method can decompose the experimental data into two components with negative and positive deflection angles,respectively.Hence,a question arises as to whether the comparison between the calculated nearside(or farside)component and the derived positive-deflection-angle(or negative-deflection-angle)component can help analyze the potential ambiguity problem.In this study,we conducted a trial application of the envelope method to the potential ambiguity problem.The envelope method was improved by including uncertainties in the experimental data.The colliding systems of 16O+28Si at 215.2 MeV and 12C+12C at 1016 MeV were considered in the analyses.For each colliding system,the angular distribution experimental data were described nearly equally well by two potential sets,one of which is“surface transpar-ent”and the other is refractive.The calculated angular distributions were decomposed into nearside and farside scattering components.Using the improved envelope method,the experimental data were decomposed into the positive-deflection-angle and negative-deflection-angle components,which were then compared with the calculated nearside and farside components.The capability of the envelope method to analyze the potential ambiguities was also discussed.

关键词： Elastic scattering Optical potential ambiguities Envelope method Nearside/farside decomposition

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Synergy between CSST galaxy survey and gravitational-wave observation: Inferring the Hubble constant from dark standard sirens

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Science China(Physics,Mechanics & Astronomy) 2024年第3期67卷 7-19页

作者： Ji-yu song Ling-Feng Wang Yichao Li Ze-Wei Zhao Jing-Fei Zhang wen Zhao Xin Zhang Key Laboratory of Cosmology and Astrophysics(Liaoning)&College of Sciences Northeastern UniversityShenyang 110819China CAS Key Laboratory for Researches in Galaxies and Cosmology Department of AstronomyUniversity of Science and Technology of ChinaChinese Academy of SciencesHefei 230026China School of Astronomy and Space Sciences University of Science and Technology of ChinaHefei 230026China National Frontiers Science Center for Industrial Intelligence and Systems Optimization Northeastern UniversityShenyang 110819China Key Laboratory of Data Analytics and Optimization for Smart Industry(Ministry of Education) Northeastern Universty Shenyang 110819China

Gravitational waves(GWs) from compact binary coalescences encode the absolute luminosity distances of GW sources. Once the redshifts of GW sources are known, one can use the distance-redshift relation to constrain cosmological parameters. One way to obtain the redshifts is to localize GW sources by GW observations and then use galaxy catalogs to determine redshifts from a statistical analysis of redshift information of the potential host galaxies, commonly referred to as the dark siren method. The third-generation(3G) GW detectors are planned to work in the 2030s and will observe numerous compact binary coalescences.Using these GW events as dark sirens requires high-quality galaxy catalogs from future sky survey projects. The China Space Station Telescope(CSST) will be launched in 2024 and will observe billions of galaxies within a 17500 deg^(2) survey area with redshift up to z ~ 4, providing photometric and spectroscopic galaxy catalogs. In this work, we simulate the CSST galaxy catalogs and the 5-year GW data from the 3G GW detectors and combine them to infer the Hubble constant(H_(0)). Our results show that the measurement precision of H0could reach the sub-percent level, meeting the standard of precision cosmology. We conclude that the synergy between CSST and the 3G GW detectors is of great significance in measuring the Hubble constant.

关键词： CSST galaxy survey galaxy catalogs gravitational waves dark sirens the Hubble constant

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