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

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

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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

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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

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Urban Landscaping Design and Carbon Reduction planning Countermeasures

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Journal of Landscape research 2024年第3期16卷 11-14页

作者： AN Shaoyuan School of Karst Science Guizhou Normal UniversityGuiyangGuizhou 550001China State Engineering Technology institute for Karst Desertification Control GuiyangGuizhou 550001China guizhou Engineering Laboratory for Karst Rocky Desertification Control and Derivative Industry GuiyangGuizhou 550001China

As the most significant green ecological resource in densely populated and economically developed areas,urban landscaping plays a pivotal role in carbon sink value and multiple ecosystem service *** is a crucial element in the advancement of green and low-carbon initiatives in China’s major cities and the realization of a carbon-neutral *** analyzing the relationship between carbon emission reduction and urban landscaping,the paper sorts out and summarizes the basic principles of urban landscaping design,proposes the role of landscape design in urban landscaping,and plans countermeasures for carbon reduction in urban landscaping,with a view to optimizing the construction and management of urban landscaping.

关键词： Landscape architecture Climate change Carbon neutral Carbon source sink Carbon reduction strategy

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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

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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

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Screening,Preparation,Characterization and Solubility of Polymorphic Forms of Ethinyl Estradiol

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Chinese Journal of Structural Chemistry 2017年第6期36卷 949-957页

作者：徐娟王慧萍李鹏宁丽峰 National research institute for family planning

Ethinyl estradiol（EE） as a contraceptive,（17α）-19-nopregna-1,3,5-（10）-trien-20-yne-3,17-diol（formula： C（20）H（24）O2, molecular weight： 296.4, CAS number： 57-63-6）, is known to have different pseudo-polymorphic forms. Some EE polymorphs have been synthesized by means of physical or chemical methods, characterized by X-ray powder diffraction（XRPD）, thermogravimetric（TG）, differential scanning calorimetry（DSC） and IR spectra. Dissolution profile was tested by high performance liquid chromatography（HPLC）. Meanwhile, the crystal structure of the new EE solvate（formamide） was characterized by single-crystal X-ray structure analysis（SXRD）. The results confirmed that EE existed polymorphism. Five crystal forms of EE were presented and two of them were reported firstly. Furthermore, five polymorphs＇ dissolution curves were drawn and they could be identified by several analysis methods. Our study on polymorphs of EE could provide a variety of crystal material composition, preparation methods and solubility.

关键词： ethinyl estradiol polymorphism useful characterization methods dissolutionprofiles96

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Crystal Structures and Physicochemical Properties of Solvated Estradiol

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Chinese Journal of Structural Chemistry 2018年第5期37卷 730-740页

作者：王慧萍徐娟宁丽峰李鹏陈晓锋 National research institute for family planning

Polymorph screening is currently one of the most important tasks for innovators and for generic companies from both pharmaceutical and intellectual property rights aspects. The hemihydrate form（Form Ⅰ） and formamide solvate（Form Ⅱ） of estradiol are isolated and prepared via systemic crystallization screening in this paper, and the formamide solvate form is reported for the first time. Both polymorphic forms were characterized by single-crystal X-ray structure analysis（SXRD）, powder X-ray diffraction（PXRD）, and thermal analysis（TGA and DSC）. The PXRD experiments indicate that the samples in this study are the pure polymorphic forms via comparing the patterns with the simulated ones. The stability and equilibrium solubility data of the solid-state phase were also examined in order to check the impact of the differences observed in their crystalline structures. It has been found that Forms I and II are of conformational polymorph and Form II is the more thermodynamically stable solid form, while Form I possesses higher solubility, indicating its possibility as an alternate solid form for its further solid formulation development if necessary.

关键词： estradiol crystalline structure solubility stability

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A randomized, controlled, multicenter contraceptive efficacy clinical trial of the intravas device, a nonocclusive surgical male sterilization

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Asian Journal of Andrology 2014年第3期16卷 432-436页

作者： Wen-Hong Lu Xiao-Wei Liang Yi-Qun Gu Wei-Xiong Wu Li-Wei Bo Tian-Gui Zheng Zhen-Wen Chen Key Laboratory of Male Reproductive Health National Health and Family Planning Commission National Research Institute for Family Planning and WHO Collaborating Centre for Research in Human Reproduction Beijing institute for family planning of Guangzhou city Guangzhou institute for family planning of Henan Province Zhengzhou institute for family planning of Putian City Putian China.

Because of unavoidable complications of vasectomy, this study was undertaken to assess the efficacy and safety of male sterilization with a nonobstructive intravas device （IVD） implanted into the vas lumen by a mini-surgical method compared with no-scalpel vasectomy （NSV）. IVDs were categorized into two types： IVD-B has a tail used for fixing to the vas deferens （fixed wing） whereas IVD-A does not. A multicenter prospective randomized controlled clinical trial was conducted in China. The study was comprised of 1459 male volunteers seeking vasectomy who were randomly assigned to the IVD-A （n = 487）, IVD-B （n = 485） or NSV （n = 487） groups and underwent operation. Follow-up included visits at the 3rd-6TM and 12~ postoperative months, The assessments of the subjects involved regular physical examinations （including general and andrological examinations） and semen analysis. The subjects＇ partners also underwent monitoring for pregnancy by monthly interviews regarding menstruation and if necessary, urine tests, There were no significant differences in pregnancy rates （0.65% for IVD-A, 0 for IVD-B and 0.21% for NSV） among the three groups （P 〉 0.05）. The cumulative rates of complications at the 12th postoperative month were zero, 0.9% and 1.7% in the three groups, respectively. In conclusion, IVD male sterilization exhibits a low risk of long-term adverse events and was found to be effective as a male sterilization method, similar to the NSV technique. IVD male sterilization is expected to be a novel contraceptive method.

关键词： complication male sterilization nonobstructive intravas device no-scalpel vasectomy

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Topological Confinement in Reversibly Interlocked Polymer Networks

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Chinese Journal of Polymer Science 2024年第2期42卷 133-140,I0004页

作者： Wan-Ting Dai Zhen-Hua Xie Yu-Bin Ke Yang You Min-Zhi Rong Ming-Qiu Zhang Key Laboratory for Polymeric Composite and Functional Materials of Ministry of Education GD HPPC LabIGCMESchool of ChemistrySun Yat-sen UniversityGuangzhou510275China Spallation Neutron Source Science Center China Spallation Neutron SourceDongguan523803China institute of High Energy Physics Chinese Academy of SciencesBeijing100049China College of Materials and Metallurgy Guizhou UniversityGuiyang550025China

Recently, we reported a series of reversibly interlocked polymer networks(RILNs), whose mechanical robustness and functionalities improvement was believed to be derived from topological interlocking of two sub-networks, although the direct evidence for the deduction is still lacking. Herein, a specially-designed RILNs system, in which the inter-component hydrogen bonds can be shielded as needed, was prepared and used to study the micro-structures of RILNs, aiming to verify the existence of mechanical interlocking in RILNs. By changing the pH of the swelling solvent, the effect exerted by the inter-component non-covalent bonds was eliminated, so detailed information of the networks structure was exposed. The small angle X-ray scattering(SAXS) and small-angle neutron scattering(SANS) results indicated that swelling-induced structural evolution of the two sub-networks mutually affected each other, even when the inter-component hydrogen bonds were absent, proving the presence of topological interlocking. The findings may help to draw a more accurate physical image and reveal the detailed structureproperty relationship of RILNs.

关键词： Reversibly interlocked polymer networks Small angle X-ray scattering Small-angle neutron scattering Topological confinement

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