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Maternal Preconception Serum Alanine Aminotransferase Levels and Risk of Preterm Birth among reproductive-Aged Women—China,2013-2017

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China CDC weekly 2024年第10期6卷 181-188,I0001页

作者： Chuanyu Zhao Jiajing Jia Hanbin Wu Qin Xu Xinyi Lyu Meiya Liu Xuan Hu Jueming Lei Yuzhi Deng Yuan He Yuanyuan Wang Zuoqi Peng Ya Zhang Hongguang Zhang Qiaomei Wang Haiping Shen Yiping Zhang Donghai Yan Ying Yang Xu Ma national research institute for family planning BeijingChina national Human genetic Resources center BeijingChina Graduate School of Peking Union Medical College BeijingChina Department of Epidemiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Summary What is already known about this topic?The significance of maternal liver health concerning preterm birth(PTB)is well recognized;however,there is a gap in understanding the precise influence of preconception s... 详细信息

关键词： Serum precise concerning

Association of psychological stress with wives’hypertension across over 10 million Chinese married female population aged 20-49 years

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Chinese Medical Journal 2024年第13期137卷 1583-1591页

作者： Zhenyan Zhao Jiajing Jia Xinyi Lyu Lihua Zhang Yuanyuan Wang Yuan He Zuoqi Peng Ya Zhang Hongguang Zhang Qiaomei Wang Haiping Shen Yiping Zhang Donghai Yan Xu Ma Ying Yang State Key Laboratory of Cardiovascular Disease Department of CardiologyFuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Science and Peking Union Medical CollegeBeijing 100037China national research institute for family planning Beijing 100081China national Human genetic Resources center Beijing 102206China Graduate School of Peking Union Medical College Beijing 100730China Department of Maternal and Child Health National Health and Family Planning Commission of the PRCBeijing 100044China

Background:Psychological stress has been reported to be a potential risk factor for hypertension among females,but it remains unclear whether spousal chronic stress levels alter the risk of hypertension among *** examined the associations between stress within the family and hypertension among married ***:reproductive-aged women who were planning for pregnancy and their husbands were recruited from the national Free Pre-pregnancy Checkup Projects(NFPCP)across 31 provinces in China in 2016 and *** stress of wives or husbands was measured with a 5-point Likert-type scale,and assessed from three domains:work/life-related stress,economic stress,and overall ***-adjusted logistic regression models were used to assess the associations between stress status and the prevalence of ***:Of 10,027,644 couples,261,098(2.60%)women had *** results showed that higher stress levels among themselves or their husbands were associated with a higher prevalence of hypertension in women(P_(for trend)<0.001).Compared with non-stressed participants,female participants with the highest stress themselves were at a greater risk of hypertension,with adjusted odds ratio(OR)of 1.31(95%confidence interval[CI]:1.25-1.37);and compared with participants whose husbands had no stress,those whose husbands had the highest stress level were at a higher risk of hypertension with adjusted OR of 1.24(95%CI:1.20-1.29).Moreover,compared with non-stressed status for both couples,only-wife-stressed,only-husband-stressed,and both-stressed couples were found to be significantly associated with increased risks of wives’hypertension,with adjusted ORs of 1.28(95%CI:1.25-1.31),1.19(95%CI:1.17-1.21),and 1.28(95%CI:1.26-1.31),***:Moderate to severe stress in both spouses might be associated with female hypertension prevalence,which highlights the importance of paying attention to the psychological stresses of couples within the f

关键词： Psychological stress Hypertension Occupational stress Life stress Financial stress

Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism

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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

Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China center for reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of reproductive Medicine and Offspring Health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China national Demonstration center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China Department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China Soong Ching Ling institute of Maternity and Child Health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

PENG ZU Study on Healthy Aging in China(PENG ZU Cohort):Design and Goals

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China CDC weekly 2024年第34期6卷 876-882页

作者： Ju Cui Jing Pang Liqun Zhang Juan Li Xiaolan Wu Xinyi Zhu Wei Ma Senlin Luo Huafang Gao Zhao Wang Jianping Cai Tiemei Zhang The Key Laboratory of Geriatrics Beijing Institute of GeriatricsInstitute of Geriatric MedicineChinese Academy of Medical ScienceBeijing Hospital/National Center of Gerontology of National Health CommissionBeijingChina Beijing institute of Geriatrics Beijing HospitalBeijingChina institute of Geriatric Medicine Chinese Academy of Medical ScienceBeijing HospitalBeijingChina center on Aging Psychology CAS Key Laboratory of Mental HealthInstitute of PsychologyChinese Academy of SciencesBeijingChina institute of Healthy Ageing China Research Center on AgeingBeijingChina institute of Statistics and Big Data Renmin University of ChinaBeijingChina Beijing institute of Technology BeijingChina national Human genetic Resources center National Research Institute for Family PlanningBeijingChina Department of Pharmacology School of Pharmaceutical SciencesTsinghua UniversityBeijingChina

Life expectancy is increasing,leading to the continuous aging of the population in *** the health status of the older population is crucial to achieving healthy *** primary objective of the PENG ZU Study on Healthy Aging in China(PENG ZU Cohort)is to understand the natural progression of health status among the aging Chinese ***,the PENG ZU cohort aims to identify and validate multidimensional aging markers,uncover the underlying mechanisms of systemic aging and functional decline,and develop novel strategies and measures to delay functional decline and adverse health outcomes,while maintaining overall good *** PENG ZU cohort consists of 26,000 individuals aged 25 to 89 years from seven major geographical regions in *** data and biospecimens are collected according to standardized procedures at baseline and follow-up *** recruitment for the PENG ZU cohort was completed in October *** extensive analysis of multidimensional health-related data and bioresources collected from the cohort is anticipated to develop methods for evaluating functional status and elucidating multilevel,cross-scale interactions and regulatory mechanisms of healthy *** findings from this study will enhance the understanding of health changes due to aging,facilitate efficient and effective interventions to maintain functional ability,and reduce the incidence and severity of age-related diseases,thereby further promoting healthy aging.

关键词： aging thereby maintain

Abnormal function of EPHA2/p.R957P mutant in congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1007-1017页

作者： Jing-Jin Zhang Zong-Fu Cao Bi-Ting Zhou Ju-Hua Yang Zhong Li Shuang Lin Xiao-Le Chen Nan-Wen Zhang Qin Ye Xu Ma Yi-Hua Zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFujian Institute of OphthalmologyFujian Provincial Clinical Medical Research Center of Eye Diseases and OptometryFuzhou 350005Fujian ProvinceChina Department of Ophthalmology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Chinese Academy of Medical Sciences&Peking Union Medical College Beijing 100000China national Human genetic Resources center National Research Institute for Family PlanningBeijing 100081China Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350004Fujian ProvinceChina

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the ***:A four-generation Chinese family affected with autosomal dominant congenital cataract was *** individuals took part in this study including 5 affected and 14 unaffected *** sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant *** pathogenicity of the variant was evaluated by the guidelines of American College of Medical genetics and InterVar *** microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane *** mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,*** cell migration was analyzed by wound healing *** model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in ***:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of *** studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane *** mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)***:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

关键词： congenital cataract EPHA2 missense variant function analysis

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese family

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Maternal-Fetal Medicine 2024年第3期6卷 131-133页

作者： Jia Zhou Hui Xiong Jingmin Yang Xiaona Fu Luming Sun Department of FetalMedicine Shanghai FirstMaternity and Infant HospitalTongji UniversityShanghai201204China Department of Neurology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Key Laboratory of Birth Defects and reproductive Health of national Health and family planning Commission(Chongqing Key Laboratory of Birth Defects and reproductive Health Chongqing Population and Family PlanningScience and Technology Research Institute)Chongqing 400020China State Key Laboratory of genetic Engineering and MOE Engineering research center of Gene Technology School of Life SciencesFudan University200433ShanghaiChina Shanghai WeHealth Biomedical Technology Co. LtdShanghai 201318China

Fukuyama congenital muscular dystrophy(FCMD)is an autosomal recessive disorder first described by Fukuyama in 1960.1 It typically manifests with generalized muscle weakness and hypotonia from infancy,often requiring assistive devices for *** frequently exhibit cognitive deficits,varying degrees of seizures,and specific neuroimaging,such as micropolygyria,hydrocephalus,and cerebellar malformations.

关键词： Mapping muscular dystrophy

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

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World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu Jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric genetic Diseases BeijingChina Children Epilepsy center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

Melatonin improves synapse development by PI3K/Akt signaling in a mouse model of autism spectrum disorder

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Neural Regeneration research 2024年第7期19卷 1618-1624页

作者： Luyi Wang Man Xu Yan Wang Feifei Wang Jing Deng Xiaoya Wang Yu Zhao Ailing Liao Feng Yang Shali Wang Yingbo Li institute of Neuroscience Department of PhysiologySchool of Basic Medical ScienceChongqing Medical UniversityChongqingChina Department of Pediatric Chongqing University Fuling HospitalChongqingChina Department of Neurosurgery Xinqiao HospitalArmy Medical UniversityChongqingChina Department of Pathology Affiliated Hospital of North Sichuan Medical CollegeNanchongSichuan ProvinceChina NHC Key Laboratory of Birth Defects and reproductive Health Chongqing Population and Family Planning Science and Technology Research InstituteChongqingChina China national Clinical research center for Neurological Diseases Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Advanced Innovation center for Human Brain Protection Capital Medical UniversityBeijingChina

Autism spectrum disorders are a group of neurodevelopmental disorders involving more than 1100 genes,including Ctnnd2 as a candidate ***2knockout mice,serving as an animal model of autis m,have been demonstrated to exhibit decreased density of dendritic *** role of melatonin,as a neuro hormone capable of effectively alleviating social interaction deficits and regulating the development of dendritic spines,in Ctnnd2 deletion-induced nerve injury remains unclea *** the present study,we discove red that the deletion of exon 2 of the Ctnnd2 gene was linked to social interaction deficits,spine loss,impaired inhibitory neurons,and suppressed phosphatidylinositol-3-kinase(PI3K)/protein kinase B(Akt) signal pathway in the prefrontal *** findings demonstrated that the long-term oral administration of melatonin for 28 days effectively alleviated the aforementioned abnormalities in Ctnnd2 gene-knockout ***,the administration of melatonin in the prefro ntal cortex was found to improve synaptic function and activate the PI3K/Akt signal pathway in this *** pharmacological blockade of the PI3K/Akt signal pathway with a PI3K/Akt inhibitor,wo rtmannin,and melatonin receptor antagonists,luzindole and 4-phenyl-2-propionamidotetralin,prevented the melatonin-induced enhancement of GABAergic synaptic *** findings suggest that melatonin treatment can ameliorate GABAe rgic synaptic function by activating the PI3K/Akt signal pathway,which may contribute to the improvement of dendritic spine abnormalities in autism spectrum disorders.

关键词： autism Ctnnd2 deletion GABAergic neurons melatonin PI3K/Akt signal pathway prefrontal cortex social behavior spine density synaptic-associated proteins