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Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella

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Asian Journal of Andrology 2023年第4期25卷 512-519页

作者： Meng Wang Qi-Yu Yang Jue-Pu Zhou Hui-Ping Tan Juan Hu Lei Jin li-xia zhu Reproductive Medicine Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

This study aimed to identify genetic causes responsible for multiple morphological abnormalities of the sperm flagella(MMAF)in the Han Chinese *** primary infertile males with completely immobile sperm and MMAF were ***-exome sequencing and Sanger sequencing were performed to identify disease-causing ***,morphological and ultrastructural analyses of sperm flagella were *** probable impact of genetic variants on protein function was analyzed by online bioinformatic tools and immunofluorescence *** patients with dynein axonemal heavy chain 1(DNAH1)gene compound heterozygous variations were ***1 c.7435C>T,p.R2479X and c.10757T>C,p.F3586S were identified in the patient from Family 1,c.11726_11727delCT,p.P3909fs and c.12154delC,p.L4052fs were found in the patient from Family 2,and c.10627-3C>G and c.11726_11727delCT,p.P3909fs existed in the patient from Family *** of these variations have not been reported,and all the mutations showed pathogenicity by functional effect *** absence of the center pair and disorganization of the fibrous sheath were present in sperm flagella at the ultrastructural ***,the expression of DNAH1 was absent in spermatozoa from the participants,validating the pathogenicity of the *** three couples have undergone intracytoplasmic sperm injection(ICSI),and two couples of them became pregnant after the *** conclusion,the newly identified DNAH1 mutations can expand the mutational and phenotypic spectrum of MMAF genes and provide a theoretical basis for genetic diagnosis in MMAF *** is recommended to conduct genetic screening in male infertility patients with MMAF and provide rational genetic counseling,and ICSI might be an optimal strategy to help with fertilization and conception for patients with DNAH1 mutations.

关键词： DNAH1 intracytoplasmic sperm injection male infertility MMAF mutation

One-and Two-Neutron Transfer Reactions in ^(11)Be+^(208)Pb and Mechanism of Lowering Fusion Barrier

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Chinese Physics Letters 2000年第11期17卷 789-791页

作者： WANG Ning li zhu-xia WU Xi-Zhen WANG Nan SUN Xiu-Quan China Institute of Atomic Energy Beijing 102413 Department of Physics of Northwest University Xian 710069 Nuclear Theory Center of National Laboratory of Heavy Ion Accelarator Lanzhou 730000

We study one-and two-neutron transfer reactions in ^(11)Be+^(208)Pb by using the quantum molecular dynamics *** find that lowering about 1-2 MeV of the potential barrier of ^(208)Pb for fusion is gained when two neutrons separated from ^(11)Be enter into ^(208)*** no significant change of potential barrier is found when only the halo neutron separated from ^(11)Be enters into ^(208)*** dynamical interplay between suppression and enhancement effects on the fusion probability in reaction ^(11)Be+^(208)Pb stemming from the easy separation of halo neutron and the long extending of neutron distribution is discussed.

关键词： separated gained separation

Behavior of the Lyapunov Exponent and Phase Transition in Nuclei

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Chinese Physics Letters 2000年第10期17卷 711-713页

作者： WANG Nan WU Xi-Zhen li zhu-xia WANG Ning zhuO Yi-Zhong SUN Xiu-Quan China Institute of Atomic Energy Beijing 102413 Department of Physicsf Northwest University Xi'an 710069 Institute of Theoretical Physics Chinese Academy of SciencesBeijing 100080 Nuclear Theory Center of National Laboratory of Heavy Ion Accelerator Lanzhou 730000

Based on the quantum molecular dynamics model,we investigate the dynamical behaviors of the excited nuclear system to simulate the latter stage of heavy ion reactions,which associate with a liquid-gas phase *** try to search a microscopic way to describe the phase transition in *** Lyapunov exponent is employed and examined for our *** find out that the Lyapunov exponent is one of good microscopic quantities to describe the phase transition in hot *** potential and the finite size effect may give a strong influence on the critical ***,the collision term plays a minor role in the process of the liquid-gas phase transition in finite systems.

关键词： temperature. transition. exponent

Synchronous diagnosis and treatment of acute myeloid leukemia and chronic lymphocytic leukemia:Two case reports

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World Journal of Clinical Cases 2021年第30期9卷 9144-9150页

作者： Rong-Rong Chen li-xia zhu Lu-Lu Wang Xue-Ying li Jia-Nai Sun Mi-Xue Xie Jing-Jing zhu De Zhou Jian-Hu li Xin Huang Wan-zhuo Xie Xiu-Jin Ye Department of Hematology The First Affiliated HospitalCollege of MedicineZhejiang UniversityHangzhou 310003Zhejiang ProvinceChina

BACKGROUND The concurrence of acute myeloid leukemia(AML)and chronic lymphocytic leukemia(CLL)is *** reports of such cases have focused mainly on clinical diagnosis and characteristics,so the mechanism remains unclear,and therapy options have been poorly *** SUMMARY Here,we report two cases of synchronous AML and *** cytometry revealed two distinct abnormal cell populations(myeloblasts and lymphoid cells)according to scatter ***5-positive B cell lymphoma with myeloid leukemia invasion was observed on lymph node *** regimens indicated for both AML and CLL were used in our patients,and our patients achieved complete response after ***-generation sequencing of 88 genes was *** We conclude that early mutation and dysregulation at the hematopoietic stem cell stage and the accumulation of multiple rearrangements may cause the concurrence of CLL and *** treatment of infection and combination therapy aimed at the CLL component are significant in the management of patients with concurrent CLL and AML.

关键词： Acute myeloid leukemia Chronic lymphocytic leukemia B-cell lymphoma-2 inhibitors Therapy Ten-eleven translocation-2 Case report

Update Knowledge Assessment and Influencing Predictor of Female Fertility Preservation in Oncologists

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Current Medical Science 2022年第4期42卷 824-831页

作者： li-xia zhu Lei JIN Jing-hang JIANG liu YANG Zi-shui FANG Meng WANG Ying xiaO Qing-song XI Reproductive Medicine Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Reproductive Medicine Center Jingmen Second People's HospitalJingmen 448000China Cancer Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:This study aims to offer an update assessment of the knowledge of Chinese oncologists on female fertility preservation,and identify the determinants that influence the implementation of fertility ***:A total of 713 Chinese oncologists with different specialties completed the online self-report questionnaire to assess their understanding of fertility risks in cancer treatment,knowledge on female fertility preservation,and perceptions on the barriers in referring patients for fertility ***:Although most oncologists were familiar with fertility risk in cancer treatment,half of them lacked the knowledge for reproduction and preservation *** the multivariable model,oncologists in a hospital with a specialized reproductive institution,positive precaution for fertility risk,and fertility preservation discussion with patients were significantly correlated with the possibility of fertility preservation ***:The intervention targets based on the update evaluation and identified influencing determinants will be helpful for all the oncofertility researchers,oncologists and institutions in future efforts for well-established female fertility preservation services.

关键词： fertility preservation oncologists female infertility neoplasms

Constraint on Nuclear Symmetry Energy From Nuclear Charge Dependent Neutron Skin Thickness of Nuclei

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Constraint on Nuclear Symmetry Energy From Nuclear Charge De...

中国大都市区域的城乡协调发展研究——以浙江省宁波市为例

作者： liU Min li zhu-xia College of Physics and Technology Guangxi Normal University

We propose a way to constrain the density dependence of the symmetry energy with the data of neutron skin thickness for a series of nuclei obtained from antiprotonic atom *** first show that the neutron skin thickness is correlated with both the charge number and the isospin asymmetry of *** optimized parameters for the correlation to the charge and the isospin asymmetry are obtained from experimental ***,we systematically calculate the neutron skin thickness of the nuclei for which the experimental data are available with the semi-classical extended Thomas-Fermi approximation up to the second order(ETF2) incorporated the Skyrme energy density functional and Coulomb energy

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长江流域资源与环境 2005年第2期14卷 149-154页

作者：朱丽霞武汉大学商学院

工业化与城市化是伴生的,工业化对城市化有促进作用,工业化的发展阶段不同,城市的规模和结构也不一样,城乡关系也会因为工业化的演进而演变。随着城市的扩张,城乡之间的关系将从二元结构向城乡转型直至城乡融合阶段演变。在不同的阶段,... 详细信息

工业化与城市化是伴生的,工业化对城市化有促进作用,工业化的发展阶段不同,城市的规模和结构也不一样,城乡关系也会因为工业化的演进而演变。随着城市的扩张,城乡之间的关系将从二元结构向城乡转型直至城乡融合阶段演变。在不同的阶段,要素流在城乡之间呈现不同的流向,对城乡的发展也起着不同的作用,同时还会影响到产业的地域分布。从处于工业化中期阶段的宁波市特殊的区位和区域环境出发,分析了宁波市的城乡发展格局,指出宁波市城乡之间存在着分工不明确、产业竞争严重等问题,尤其是平面化的城镇体系严重影响其中心城市功能的发挥。针对存在的问题,提出将宁波市建设成为长三角最大的后勤中心、提升中心城区的功能和产业结构、农村城镇之间实行网络化发展、以及用工业化理念来经营农业等对策和措施。

关键词：工业化理念中国宁波市城乡协调发展城乡融合区域城市化中期影响用工

A Study of Proton-Induced Spallation Reactions by Improved Quantum Molecular Dynamics Model Plus Statistical Decay Models

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A Study of Proton-Induced Spallation Reactions by Improved Q...

Study of Mass Distribution of Products in 7.0 AMeV 238U+238U Collisions

作者： OU li li zhu-xia WU Xi-zhen National Key Laboratory of Computational Physics

The recent GSI data for proton-induced spallation reactions by using inverse kinematics are analyzed by the improved quantum molecular dynamics model(ImQMD05) incorporated with the generalized evaporation model(GEM2) and GEMINI *** find that the model of ImQMD05+GEM2 reproduces the experimental data of mass and charge distributions for proton-induced spallation reactions on heavy targets(Pb,U and Au) well and that of ImQMD05+GEMINI reproduces the ones on light targets(Fe) *** experimental data for double differential cross sections of emitted neutrons and protons in intermediate energy proton-induced spallation reactions can also be reproduced well with

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Study of Mass Distribution of Products in 7.0 AMeV 238U+238U...