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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

Ferroptosis mediators vary in metabolic syndrome,type-2 diabetes,and hypercholesterolemia:A meta-analysis report

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Genes & Diseases 2024年第3期11卷 109-112页

作者： Indra Kundu Ashlesha Pande Tannishtha Das Susan Idicula-Thomas Biomedical Informatics centre Indian Council of Medical Research-National Institute for Research in Reproductive and Child HealthMumbaiMaharashtra 400012India Department of Biotechnology St.Xavier's CollegeKolkataWest Bengal 700016India

Metabolic syndrome(MetS)is a complex disorder characterized by the coexistence of phenotypes such as obesity,hypertension,hyperglycemia,high triglyceride level,and low level of high-density lipoprotein cholesterol.Inflammation majorly driven by oxidative stress has an overarching role in obesity and IR-mediated mechanisms leading to Mets.Besides these factors.

关键词： obesity cholesterol diabetes

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

Management of monogenic diabetes in pregnancy:A narrative review

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World Journal of Diabetes 2024年第1期15卷 15-23页

作者： Mohammad Sadiq Jeeyavudeen Sarah R Murray Mark W J Strachan Metabolic Unit Western General HospitalEdinburgh EH42XUUnited Kingdom MRC centre for reproductive Health University of Edinburgh Queen’s Medical Research InstituteEdinburgh EH164TJUnited Kingdom

Pregnancy in women with monogenic diabetes is potentially complex,with significant implications for both maternal and fetal health.Among these,maturity-onset diabetes of the young(MODY)stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical practice.Each subtype of MODY requires a distinct approach tailored to the pregnancy,diverging from management strategies in non-pregnant individuals.Glucokinase MODY(GCK-MODY)typically does not require treatment outside of pregnancy,but special considerations arise when a woman with GCK-MODY becomes pregnant.The glycemic targets in GCK-MODY pregnancies are not exclusively dictated by the maternal/paternal MODY genotype but are also influenced by the genotype of the developing fetus.During pregnancy,the choice between sulfonylurea or insulin for treating hepatocyte nuclear factor 1-alpha(HNF1A)-MODY and HNF4A-MODY depends on the mother’s specific circumstances and the available expertise.Management of other rarer MODY subtypes is individu-alized,with decisions made on a case-by-case basis.Therefore,a collaborative approach involving expert diabetes and obstetric teams is crucial for the compre-hensive management of MODY pregnancies.

关键词： Diabetes Pregnancy Maturity-onset diabetes of the young Insulin Sulphonylurea Glucokinase Hepatocyte nuclear factor 1-alpha,hepatocyte nuclear factor 1-beta,and hepatocyte nuclear factor 4-alpha

A new approach to pedestal differentiation for soil loss estimation-a case study from a burnt area in north-central Portugal

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Journal of Forestry research 2024年第3期35卷 45-54页

作者： Frank G.A.Verheijen Martinho A.S.Martins Sergio A.Prats Jan J.Keizer centre for Environmental and Marine Studies(CESAM) Department Environment and PlanningUniversity of Aveiro3810-193 AveiroPortugal Mediterranean institute for Agriculture Environment and Development(MED-CHANGE)Institute for Advanced Studies and ResearchUniversity of EvoraPolo da MitraAp.947006-554 EvoraPortugal GeoBiociencias Geotecnologias E Geoengenharias(GEOBIOTEC)Department Environment and PlanningUniversity of Aveiro3810-193 AveiroPortugal

Soil pedestals have long been used as qualitative indicators of soil splash erosion.In rangelands,plant-capped pedestals,generally grass tussocks,have also been used to quantitatively estimate soil loss since the first half of the twentieth century.In agricultural lands,forests,and bad-lands,stone-capped pedestals have been used as qualitative and semi-quantitative indicators of active,'extreme'erosion.Little work has been reported on using capstone pedestal data for quantifying soil loss.We postulate that three distinct capstone pedestal types may be present in any given location and that a detailed analysis of a pedestal height histogram may be used to recognize their populations.This analysis can subsequently inform if soil loss can be reliably estimated and if so,which of the existing methods using pedestal height data will provide more accurate results.The three proposed capstone pedestal types are:(1)neo-pedestals formed underneath surface stones exposed by(partial)removal of the soil surface cover;(2)endo-pedestals formed underneath stones that were buried in the soil but have been exposed by erosion;and(3)phoenix-pedestals formed underneath stones from collapsed pedestals.In the pedestal height histogram of any given location,a skew to smaller heights may indicate the existence of endo-and/or phoenix-pedestals,which may be revealed as a bi-(or tri)modal distribution when using a smaller bin size.This concept was applied to a case study where soil loss had been monitored for control plots and mulched plots during a 5-year period following wildfire in a eucalypt plantation.We measured pedestal heights and used methods to quantitatively assess soil loss from soil pedestal data in the available literature.Soil pedestal data at the end of the 5-year period under or overestimated soil loss in the control treatment,with results ranging from 60 to 115%of measured soil loss,depending on the method.It is postulated that phoenix-and endo-pedestals may be a driving factor behind the observed discrepancies.We discuss

关键词： Soil pedestals Mulch Wildfire Soil erosion Char

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 gene.Ctnnd2knockout mice,serving as an animal model of autis m,have been demonstrated to exhibit decreased density of dendritic spines.The 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 r.In 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 cortex.Our findings demonstrated that the long-term oral administration of melatonin for 28 days effectively alleviated the aforementioned abnormalities in Ctnnd2 gene-knockout mice.Furthermore,the administration of melatonin in the prefro ntal cortex was found to improve synaptic function and activate the PI3K/Akt signal pathway in this region.The 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 function.These 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

Retinal Vascular Imaging Application in Women’s reproductive Health:Clinical Implications and Future Directions

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Maternal-Fetal medicine 2024年第2期6卷 92-96页

作者： Beth Shi Yu Lim Ling-Jun Li Yong Loo Lin School of medicine National University of SingaporeSingapore 117597Singapore Department of Obstetrics&Gynaecology Yong Loo Lin School of MedicineNational University of SingaporeSingapore 119228Singapore Global centre for Asian Women’s Health Human Potential Translational Research ProgrammeYong Loo Lin School of MedicineNational University of SingaporeSingapore 117597Singapore NUS Bia-Echo Asia centre for reproductive Longevity and Equality(ACRLE) Yong Loo Lin School of MedicineNational University of SingaporeSingapore 117456Singapore Singapore Eye research institute Singapore National Eye CentreSingapore 168751Singapore

Over the past two decades,population-based studies employing semiautomatic computer-assisted programs have uncovered associations between retinal microvascular features and various systemic conditions.As the recognition of retinal imaging in cardiometabolic health grows,there is increasing evidence supporting its application in women’s health,particularly during the reproductive age.This review aims to summarize the indications of retinal imaging in women’s health and intergenerational health,where suboptimal retinal imaging has been found to mirror pathological systemic changes,such as suboptimal hemodynamic circulation,inflammation,endothelial dysfunction,oxidative stress,and hypoxia in vivo.Findings from Singapore Growing Up in Singapore Towards Healthy Outcomes and Singapore Preconception Study of Long-Term Maternal and Child Outcomes cohorts have reported serial changes in retinal conventional microvascular features(e.g.,retinal arteriolar narrowing,retinal venular widening)and retinal geometric microvascular features(e.g.,sparse fractal dimension,enlarged branching angle,and increased curvature tortuosity)during the preconception and antenatal phases.These morphological abnormalities were found to be related to female fertility,maternal antenatal health conditions,postnatal maternal cardiometabolic health,and intergenerational health in the fetus.Given the compelling evidence of the ability to detect microvascular changes through noninvasive methods at an early stage,retinal imaging holds the potential to facilitate timely interventions,mitigate the progression of complications,and prevent adverse pregnancy outcomes.Looking ahead,the convergence of artificial intelligence and advanced imaging techniques heralds a promising era in women’s health research and clinical practice.

关键词： Retinal vascular imaging reproductive health

A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder:A case study

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Genes & Diseases 2024年第4期11卷 13-15页

作者： Songchang Chen Li Wanng Luting Chen Weihui Shi Junyu Zhang Yuting Hu Yinyu Wang Li Jin Jianzhong Sheng Feng Zhang Yanting Wu Hefeng Huang Chenming Xu Obstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200090China The International Peace Maternity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China research Units of Embryo Original Diseases Chinese Academy of Medical SciencesShanghai 200030China Key Laboratory of reproductive Genetics(Ministry of Education) Department of Reproductive EndocrinologyWomen's HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China Shanghai First Maternity and Infant Hospital Tongji University School of MedicineShanghai 200030China

Preimplantation genetic testing(PGT)is a precise and effective technique for detecting inherited pathogenic mutations to prevent birth defects.However,there are few reports on PGT for pseudo-autosomal genetic diseases.

关键词： implantation testing precise

How to enhance agricultural plastic waste management in China?Insights from public participation

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Journal of Integrative Agriculture 2024年第6期23卷 2127-2143页

作者： Aibo Hao Thomas Dogot Changbin Yin State Key Laboratory of Efficient Utilization of Arid and Semi-arid Arable Land in Northern China Institute of Agricultural Resources and Regional PlanningChinese Academy of Agricultural SciencesBeijing 100081China Economics and Rural Development Laboratory TERRA Teaching and Research CentreGembloux Agro-Bio TechUniversity of LiègeGembloux B-5030Belgium research Center for Agricultural Green Development in China Beijing 100081China

Agricultural plastics play a pivotal role in agricultural production.However,due to expensive costs,agricultural plastic waste management(APWM)encounters a vast funding gap.As one of the crucial stakeholders,the public deserves to make appropriate efforts for APWM.Accordingly,identifying whether the public is willing to pay for APWM and clarifying the decisions’driving pathways to explore initiatives for promoting their payment intentions are essential to address the dilemma confronting APWM.To this end,by applying the extended theory of planned behavior(TPB),the study conducted an empirical analysis based on 1,288 residents from four provinces(autonomous regions)of northern China.Results illustrate that:1)respondents hold generally positive and relatively strong payment willingness towards APWM;2)respondents’attitude(AT),subjective norm(SN),and perceived behavioral control(PBC)are positively correlated with their payment intentions(INT);3)environmental cognition(EC)and environmental emotion(EE)positively moderate the relationships between AT and INT,and between SN and INT,posing significant indirect impacts on INT.The study’s implications extend to informing government policies,suggesting that multi-entity cooperation,specifically public payment for APWM,can enhance agricultural non-point waste management.

关键词： agricultural plastic waste extended theory of planned behavior public payment environmental cognition environmental emotion