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Asian Journal of Andrology 2024年第1期26卷 120-122页

作者： Xiao-Bin Wang Ping Chen Xue-Er Yu Zu-Liang Yao Ting-Chao Guo Bo-Chen Pan Center for reproductive Medicine Department of Obstetrics and GynecologyShengjing Hospital of China Medical UniversityShenyang 110004China NuProbe Shanghai 200433China Urology Surgery of The Affiliated reproductive Hospital of China Medical University and Liaoning Key Laboratory of reproductive Health Liaoning Research Institute of Family Planning(The Affiliated Reproductive Hospital of China Medical University)Shenyang 110031China NHC Key Laboratory of reproductive Health and Medical Genetics China Medical UniversityShenyang 110122China

DearEditor,Congenital hypogonadotropic hypogonadism(CHH)is a rare genetic disease characterized by gonadotropin-releasing hormone(GnRH)deficiency or insufficiency and normal hypothalamic-pituitary structures,resulting in defective sexual maturation or/and infertility.!CHH presents as a variety of nonreproductive phenotypes,such as renal hypoplasia,dental hypoplasia,or oculomotor abnormalities.

关键词： pogon compound ism

Arginine methylation of ALKBH5 by PRMT6 promotes breast tumorigenesis via LDHA-mediated glycolysis

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Frontiers of Medicine 2024年第2期18卷 344-356页

作者： Xue Han Chune Ren Aifang Jiang Yonghong Sun Jiayi Lu Xi Ling Chao Lu Zhenhai Yu department of reproductive Medicine Affiliated Hospital of Weifang Medical UniversityWeifang261053China department of Pathology Affiliated Hospital of Weifang Medical UniversityWeifang261053China

ALKBH5 is a master regulator of N6-methyladenosine(m6A)modification,which plays a crucial role in many biological ***,we show that ALKBH5 is required for breast tumor ***,PRMT6 directly methylates ALKBH5 at R283,which subsequently promotes breast tumor ***,arginine methylation of ALKBH5 by PRMT6 increases LDHA RNA stability via m6A demethylation,leading to increased aerobic ***,PRMT6-mediated ALKBH5 arginine methylation is confirmed in PRMT6-knockout ***,these findings identify a PRMT6-ALKBH5-LDHA signaling axis as a novel target for the treatment of breast cancer.

关键词： PRMT6 ALKBH5 N6-methyladenosine glycolysis tumor growth

Psychological consequences of a diagnosis of infertility in men:a systematic analysis

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Asian Journal of Andrology 2024年第1期26卷 10-19页

作者： Sarah N Biggs Jane Halliday Karin Hammarberg reproductive Epidemiology Murdoch Children's Research InstituteMelbourne 3052Australia department of Paediatrics University of MelbourneMelbourne 3052Australia Public Health and Preventative Medicine Monash UniversityMelbourne 3004Australia Victorian Assisted reproductive Treatment Authority Melbourne 3000Australia

Almost half of infertility cases involve male *** the consequence of a diagnosis of male infertility,as a sole or partial contributor to the couples'infertility,to the mental health of men is required to ensure clinical care meets their psychological *** aim of this systematic analysis was to synthesize the evidence regarding whether men diagnosed with male factor infertility experience greater psychological distress than(1)men described as fertile and(2)men in couples with other infertility *** databases were searched using a combination of Medical Subject Headings(MeSH)headings and keywords relating to male infertility and psychological *** search yielded 1016 unique publications,of which 23 were included:8 case-control,14 prospective cohort,and 1 data linkage *** aspects of psychological distress were identified depression,anxiety,self-esteem,quality of life,fertility-related stress,general psychological stress or well-being,and psychiatric ***-control studies reported that men with male factor infertility have more symptoms of depression,anxiety and general psychological distress,worse quality of some aspects of life,and lower self-esteem than *** men with male factor infertility were compared to men in couples with other causes of infertility,there were few differences in the assessed aspects of psychological *** methodological limitations within the studies,this systematic analysis suggests that the experience of infertility,irrespective of its cause,negatively affects men's mental health and demonstrates the need for assisted reproduction technology(ART)providers to consider men undergoing assisted reproduction as individuals with their own unique support needs.

关键词： anxiety depression infertility male mental health quality of life

Intertwined depressive and cognitive trajectories and the risk of dementia and death in older adults:a competing risk analysis

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General Psychiatry 2024年第2期37卷 207-215页

作者： Ziyang Ren Lirong Nie Yushan Du Jufen Liu Institute of reproductive and Child Health/National Health Commission Key Laboratory of reproductive Health Peking UniversityBeijingChina department of Epidemiology and Biostatistics School of Public HealthPeking UniversityBeijingChina

Background Depressive symptoms and cognitive impairment often interact,rendering their associations *** date,their joint trajectories and associations with dementia and death remain *** To explore the interactions between depressive symptoms and cognitive function,their developmental trajectories and the associations with all-cause dementia,Alzheimer’s disease(AD)and all-cause death in older *** Data were from the Health and Retirement *** symptoms and cognitive function were measured using the 8-item Centre for Epidemiologic Studies Depression Scale and the Telephone Interview of Cognitive Status,***-cause dementia and AD were defined by self-reported or proxy-reported physician ***-cause death was determined by *** restricted cubic spline,group-based trajectory modelling and subdistribution hazard regression were *** Significant interactions between depressive symptoms and cognitive function in 2010 in their association with new-onset all-cause dementia and AD from 2010 to 2020 were found,especially in women(p for interaction<0.05).Independent trajectory analysis showed that emerging or high(vs no)depressive trajectories and poor or rapidly decreased cognitive trajectories(vs very good)from 1996 to 2010 were at significantly higher risk of subsequent all-cause dementia,AD and all-cause death.15 joint trajectories of depressive symptoms and cognitive function from 1996 to 2010 were determined,where rapidly decreased cognitive function was more common in those with no depressive *** with older adults with the trajectory of no depressive symptoms and very good cognitive function,those with the trajectory of no depressive symptoms but rapidly decreased cognitive function were much more likely to develop new-onset all-cause dementia and death,with subdistribution hazard ratios(95%confidence intervals)of 4.47(2.99 to 6.67)and 1.84(1.43 to 2.36),especially in wome

关键词： death analysis rendering

Early embryonic failure caused by a novel mutation in the TUBB8 gene:A case report

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World Journal of Clinical Cases 2024年第12期12卷 2092-2098页

作者： Xiao-Yu Zhang Xing-Xing Zhang Lei Wang department of reproductive Center Zaozhuang Maternal and Child Healthcare HospitalZaozhuang 277000Shandong ProvinceChina

BACKGROUND This study aimed to explore the relationship between gene mutations and early embryonic development arrest and to provide more possibilities for the diagnosis and treatment of repeated implantation *** SUMMARY Here,we collected and described the clinical data of a patient with early embryonic development stagnation after repeated in vitro fertilization attempts for primary infertility at the department reproductive Center of Zaozhuang Maternal and Child Healthcare *** also detected the whole-exon gene of the patient's spouse and parents,and conducted bioinformatics analysis to determine the pathogenesis of the *** A novel mutant of the TUBB8 gene[c.602G>T(p.C201F)]was identified,and this mutant provided new data on the genotype-phenotype relationships of related diseases.

关键词： Genes Mutation Embryonic development Fertilization in vitro Intracytoplasmic sperm injection Case report

A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency

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Genes & Diseases 2024年第4期11卷 128-130页

作者： Luis Ramos department of reproductive Biology Instituto Nacional de Ciencias Medicas y Nutricion Salvador ZubirdnTlalpanMexico City 14080Mexico

Steroidogenic factor 1(SF1/NR5A1;nuclear receptor subfamily 5 group A member 1)is an essential orphan protein involved in gonadal embryogenesis,sex determination,and reproductive endocrinology.

关键词： insufficiency determination gonadal

Aberrant protamination in sperm correlates to anomalous nuclear and cytoplasmic architectures in infertile males with sperm dysmorphology

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Asian Journal of Andrology 2024年第2期26卷 183-188页

作者： Huan Jiang Chu-Jie Huang department of reproductive Endocrinology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)Shenzhen 518172China Institute of reproductive Immunology College of Life Science and TechnologyJinan UniversityGuangzhou 510632China

Aberrant sperm protamination is linked to sperm dysmorphology and nuclear chromatin ***,its effects on sperm cytoplasmic maturation remain largely *** relationships of protamines,sperm morphology,DNA damage,and cytoplasmic remodeling were illustrated in this study to provide fresh perspectives on the mechanisms of male infertility.A total of 205 infertile males were allocated into 5 groups according to the percentage of spermatozoa exhibiting abnormal morphology within their *** concentration,motility,abnormal sperm morphology,cytoplasmic droplets(CDs),and excess residual cytoplasm(ERC)were analyzed according to the World Health Organization manual(2010).Sperm nuclear vacuoles(NVs)were determined by propidium iodide(PI)*** protamine expressions(P1 and P2)were detected by western *** damage was measured by acridine orange test(AOT)to calculate the proportion of sperm with single-strand DNA breaks(SSBs).Our data showed that sperm concentration and motility in infertile males significantly decreased with the severity of abnormal sperm morphology(both P<0.01).P1 level,P1/P2 ratio,and SSB rate increased with the severity of sperm dysmorphology,whilst the P2 level decreased(all P

关键词： abnormal sperm morphology excess residual cytoplasm male infertility protamines sperm DNA damage sperm nuclear vacuoles

Viral-mediated gene therapy in pediatric neurological disorders

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World Journal of Pediatrics 2024年第6期20卷 533-555页

作者： Jing Peng Wei-Wei Zou Xiao-Lei Wang Zhi-Guo Zhang Ran Huo Li Yang department of Pediatrics Clinical Research Center for Chidren Neurodevelopmental disablities of Hunan ProvinceXiangya HospitalCentral South UniversityChangsha 410008China reproductive Medicine Center Department of Obstetrics and Gynecologythe First Affiliated Hospital of Anhui Medical UniversityHefeiChina State Key Laboratory of reproductive Medicine Nanjing Medical UniversityNanjingChina

Background Due to the broad application of next-generation sequencing,the molecular diagnosis of genetic disorders in pediatric neurology is no longer an unachievable ***,treatments for neurological genetic disorders in children remain primarily *** the other hand,with the continuous evolution of therapeutic viral vectors,gene therapy is becoming a clinical *** this perspective,we wrote this review to illustrate the current state regarding viral-mediated gene therapy in childhood neurological *** sources We searched databases,including PubMed and Google Scholar,using the keywords"adenovirus vector,""lentivirus vector,"and"AAv"for gene therapy,and"immunoreaction induced by gene therapy vectors,""administration routes of gene therapy vectors,"and"gene therapy"with"NCL,""SMA,""DMD,""congenital myopathy,""MPS""leukodystrophy,"or"pediatric metabolic disorders".We also screened the database of *** using the keywords"gene therapy for children"and then filtered the results with the ones aimed at neurological *** time range of the search procedure was from the inception of the databases to the *** We presented the characteristics of commonly used viral vectors for gene therapy for pediatric neurological disorders and summarized their merits and drawbacks,the administration routes of each vector,the research progress,and the clinical application status of viral-mediated gene therapy on pediatric neurological *** Viral-mediated gene therapy is on the brink of broad clinical ***-mediated gene therapy will dramatically change the treatment pattern of childhood neurological disorders,and many children with incurable diseases will meet the dawn of a ***,the vectors must be optimized for better safety and efficacy.

关键词： Gene therapy Neurological disorders Pediatrics Viral vectors

Decreased AKAP4/PKA signaling pathway in high DFI sperm affects sperm capacitation

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Asian Journal of Andrology 2024年第1期26卷 25-33页

作者： Kun Zhang Xiu-Hua Xu Jian Wu Ning Wang Gang Li Gui-Min Hao Jin-Feng Cao Hebei Key Laboratory of Infertility and Genetics Department of Reproductive MedicineSecond Hospital of Hebei Medical UniversityShijiazhuang 050000China department of reproductive Medicine Affiliated Hospital of Xuzhou Medical UniversityXuzhou 221000China department of Neurology The 980th Hospital of the People's Liberation Army Joint Logistics Support Force(Bethune International Peace Hospital)Shijiazhuang 050000China.

The sperm DNA fragmentation index(DFI)is a metric used to assess DNA fragmentation within *** in vitro fertilizationembryo transfer(IVF-ET),high sperm DFI can lead to a low fertilization rate,poor embryo development,early miscarriage,etc.A kinase anchoring protein(AKAP)is a scaffold protein that can bind protein kinase A(PKA)to subcellular sites of specific substrates and protects the biophosphorylation *** protein antigen 17(SPA17)can also bind to *** study intends to explore the reason for the decreased fertilization rate observed in high sperm DFI(H-DFI)patients during *** addition,the study investigates the expression of AKAP,protein kinase A regulatory subunit(PKARIl),and SPA17 between H-DFI and low sperm DFI(L-DFI)***17 at the transcriptional level is abnormal,the translational level increases in H-DFI patients,and the expression of AKAP4/PKARIl protein decreases.H,O,has been used to simulate oxidative stress damage to spermatozoa during the formation of sperm *** indicates that H,O,increases the expression of sperm SPA17 protein and suppresses AKAP4/PKARIl protein *** processes inhibit sperm capacitation and reduce acrosomal *** culture data and IVF outcomes have been *** H-DFI group has a lower fertilization ***,the results indicate that the possible causes for the decreased fertilization rate in the H-DFI patients have included loss of sperm AKAP4/PKARIl proteins,blocked sperm capacitation,and reduced occurrence of acrosome reaction.

关键词： AKAP PKA SPA17 sperm capacitation sperm DNA fragmentation index

Adenylate kinase phosphate energy shuttle underlies energetic communication in flagellar axonemes

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Science China(Life Sciences) 2024年第8期67卷 1697-1714页

作者： Huan Wu Yanman Zhang Yuqian Li Shuya Sun Jintao Zhang Qingsong Xie Yue Dong Shushu Zhou Xuan Sha Kuokuo Li Jinyi Chen Xin Zhang Yang Gao Qunshan Shen Guanxiong Wang Xiaomin Zha Zongliu Duan Dongdong Tang Chuan Xu Hao Geng Mingrong Lv Yuping Xu Ping Zhou Zhaolian Wei Rong Hua Yunxia Cao Mingxi Liu Xiaojin He reproductive Medicine Center Department of Obstetrics and GynecologyThe First Affiliated Hospital of Anhui Medical UniversityHefei 230022China State Key Laboratory of reproductive Medicine and Offspring Health Department of Histology and EmbryologySchool of Basic Medical SciencesNanjing Medical UniversityNanjing 210029China State Key Laboratory of reproductive Medicine and Offspring Health The Affiliated Taizhou People’s Hospital of Nanjing Medical UniversityTaizhou School of Clinical MedicineNanjing Medical UniversityNanjing 211166China reproductive Medicine Center Department of Obstetrics and GynecologyShanghai General HospitalShanghai Jiao Tong University School of MedicineShanghai 200080China State Key Laboratory of reproductive Medicine and Offspring Health Clinical Center of Reproductive MedicineThe First Affiliated Hospital of Nanjing Medical UniversityNanjing 210029China NHC Key Laboratory of Study on Abnormal Gametes and reproductive Tract(Anhui Medical University) Hefei 230032China Key Laboratory of Population Health Across Life Cycle(Anhui Medical University) Ministry of Education of the People’s Republic of ChinaHefei 230032China Anhui Province Key Laboratory of reproductive Health and Genetics Hefei 230032China Biopreservation and Artificial Organs Anhui Provincial Engineering Research CenterAnhui Medical UniversityHefei 230032China

The complexities of energy transfer mechanisms in the flagella of mammalian sperm flagella have been intensively investigated and demonstrate significant diversity across *** shuttles,particularly adenylate kinase(AK)and creatine kinase(CK),are pivotal in the efficient transfer of intracellular ATP,showing distinct tissue-and ***,the expression profiles of AK and CK were investigated in mice and found to fall into four subgroups,of which Subgroup III AKs were observed to be unique to the male reproductive system and conserved across *** AK8 and AK9 were found to be indispensable to male reproduction after analysis of an infertile male *** mouse models showed that AK8 and AK9 were central to promoting sperm *** combined with mass spectrometry revealed that AK8 and AK9 interact with the radial spoke(RS)of the *** of various human and mouse sperm samples with substructural damage,including the presence of multiple RS subunits,showed that the head of radial spoke 3 acts as an adapter for AK9 in the flagellar *** an ATP probe together with metabolomic analysis,it was found that AK8 and AK9 cooperatively regulated ATP transfer in the axoneme,and were concentrated at sites associated with energy consumption in the *** findings indicate a novel function for RS beyond its structural role,namely,the regulation of ATP *** conclusion,the results expand the functional spectrum of AK proteins and suggest a fresh model regarding ATP transfer within mammalian flagella.

关键词： adenylate kinase Subgroup III AKs AK8 AK9 male infertility ATP transfer radial spoke