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FMR1 allele frequencies in 51,000 newborns:a large-scale population study in China

World Journal of Pediatrics 2021年第6期17卷 653-658页

作者： Jin-Yu Zhang Ding-Wen Wu Ru-Lai Yang Lin Zhu Meng-Yi Jiang Wen-Jun Wang Xue-Kun Li Xiao-Ling Jiang Fan Tong qiang shu Children's Hospital School of MedicineZhejiang UniversityHangzhou 310052China Institute of Translational Medicine School of MedicineZhejiang UniversityHangzhou 310029China National Clinical Research Center for Child Health Hangzhou 310052China Hangzhou Biosan Clinical Laboratory 859 Shixiang West RoadHangzhou 310007China Children's Hospital Zhejiang University School of Medicine3333 Binsheng RdBinjiang DistrictHangzhou 310000China

Background Fragile X syndrome(FXS).caused by CGG-repeat expansion in FMR1 promoter,is one of the most common causes of mental retardation.Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected offspring.Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in the mainland of China.Methods The sizes of FMRI CGG-repeats were analyzed in 51,661 newborns(28,114 males and 23,547 females)and also in a cohort of 33 children diagnosed with developmental delay using GC-rich polymerase chain reaction(PCR)and triple repeat primed PCR.Results The frequency of CGG repeats>100 was 1/9371 in males and 1/5887 in females,and the frequency of CGG repeats>54 was 1/1561 in males and 1/1624 in females.FMRJ full mutation and premutation were identified in 27.27%of children who had Ages and Stages Questionnaire scores less than two standard deviations from the cutoff value.Conclusions Our study revealed the prevalence of FXS in China and improved the sample databases of FXS,suggesting that the prevalence of FXS in Chinese is higher than estimated previously and that FXS screening can be advised to high-risk families.

关键词： China Fragile X syndrome Fragile X mental retardation 1(FMRI)gene Newborn screening Population frequency

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Pediatric heart surgery in China: progress and challenges

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World Journal of Pediatric Surgery 2019年第1期2卷 28-31页

作者： Xumin Mo Di Yu qiang shu Department of Cardiothoracic Surgery Children’s Hospital of Nanjing Medical UniversityNajingChina Department of Cardiothoracic Surgery Children’s HospitalZhejiang University School of MedicineHangzhouChina

Congenital heart disease(CHD)has become the most common birth defect and is now the first leading cause of infant mortality due to congenital malformations in China.According to the 2012 Birth Defects Report,CHD has been the first leading birth defect in China since a decade ago.Patients with CHD have reached 2 million in China,and newly diagnosed patients were estimated to be 150000-200000 annually.

关键词： mortality surgery congenital

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Publishing trends in World Journal of Pediatric Surgery

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World Journal of Pediatric Surgery 2022年第4期5卷 193-195页

作者： Qi Qi Robert Dorazio Lili Yang Yicheng Xie qiang shu National Clinical Research Center for Child Health National Children's Regional Medical CenterChildren’s HospitalZhejiang University School of MedicineHangzhouChina

In the era of evidence-based medicine,medical journals are the most respected sources of information for physicians and policymakers seeking and receiving evidence to guide clinical practice and decision-making.1 Within the field of pediatric surgery,there are several journals with a long history:Journal of Pediatric Surgery(JPS),which was created in 1966,Pediatric Surgery International(PSI)in 1986 and the European Journal of Pediatric Surgery(EJPS)in 1991.World Journal of Pediatric Surgery(WJPS)was established in 2018,when the first editorial was published online written by the Editor-in-Chief Dr qiang shu.WJPS mainly reports on advanced theoretical techniques and frontier achievements of high-quality basic and clinical research in pediatric surgery.

关键词： Surgery Pediatric clinical

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Closed reduction of hip dislocation associated with ipsilateral lower extremity fractures:A case report and review of the literature

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World Journal of Clinical Cases 2022年第34期10卷 12654-12664页

作者： Yong Xu Ming Lv shu-qiang Yu Guang-Ping Liu Department of Orthopaedics Chengdu Second People’s HospitalChengdu 610000Sichuan ProvinceChina Department of Orthopaedics Zibo Central HospitalShandong UniversityZibo 255000Shandong ProvinceChina Department of Orthopaedics The Fourth People's Hospital of ZiboZibo 255000Shandong ProvinceChina

BACKGROUND Traumatic hip dislocation usually occurs following high-velocity trauma.It is imperative that the dislocation be reduced in a timely manner,especially in a closed manner,as an orthopedic emergency.However,closed reduction can hardly be achieved in patients who also have ipsilateral lower extremity fractures.Herein,we focus on hip dislocation associated with ipsilateral lower extremity fractures,excluding intracapsular fractures(femoral head and neck fractures),present an early closed hip joint reduction method for this injury pattern,and review the literature to discuss the appropriate closed reduction technique for this rare injury pattern.CASE SUMMARY We report a case of a 37-year-old male who sustained a left acetabular posterior wall fracture,an ipsilateral comminuted subtrochanteric fracture and dislocation of the hip.The hip dislocation was reduced urgently in a closed manner using the joy-stick technique with a T-shaped Schanz screw.The fractures were reduced and fixed as a 2nd-stage surgery procedure.At the 17-month postoperative follow-up,the patient had full range of motion of the affected hip.CONCLUSION Closed reduction of a hip dislocation associated with ipsilateral lower extremity fractures is rarely achieved by regular maneuvers.Attempts at closed reduction,by means of indirectly controlling the proximal fracture fragment or reconstructing the femoral leverage rapidly with the aid of various external reduction apparatuses,were shown to be effective in some scenarios.Mandatory open reduction is indicated in cases of failed closed reduction,particularly in irreducible dislocations.

关键词： Trauma Hip dislocation Close reduction Open reduction Fracture Case report

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Prevention and control strategies for emergency,limited-term,and elective operations in pediatric surgery during the epidemic period of COVID-19

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World Journal of Pediatric Surgery 2020年第1期3卷 39-45页

作者： Daxing Tang Jinfa Tou Jinhu Wang Qingjiang Chen Wei Wang Jinjin Huang Hangyan Zhao Jia Wei Zheming Xu Dongyan Zhao Junfen Fu qiang shu Department of Pediatric Surgery Children's HospitalZhejiang University School of MedicineHangzhouChina National Clinical Research Center for Child Health HangzhouChina Department of Cardiology Children's HospitalZhejiang University School of MedicineHangzhouChina Anesthesiology and Operation Center Children's HospitalZhejiang University School of MedicineHangzhouChina Department of Endocrinology Children's HospitalZhejiang University School of MedicineHangzhouChina

The outbreak of coronavirus disease 2019(COVID-19)caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has spread to more than 100 countries.Children approved to be susceptible to SARS-CoV-2 infection.Preventing and controlling the epidemic while ensuring orderly flows of pediatric surgery clinical work has proven to be a big challenge for both patients and clinicians during the epidemic.Based on the transmission characteristics of SARS-CoV-2 and the requirements for prevention and control of COVID-19,the authors proposed some concrete measures and practical strategies of managing emergency,limited-term,and elective pediatric surgeries during the epidemic period.

关键词： pediatric surgery prevention

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Plasma gelsolin level predicts acute kidney injury after cardiopulmonary bypass in infants and young children

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World Journal of Pediatrics 2018年第2期14卷 143-150页

作者： Shan-Shan Shi Xiao-Jie Yue Dong-Yan Zhao Jia-Jie Fan Jian-Guo Xu Xi-Wang Liu Bao-Li Cheng Xiang-Ming Fang Jie Fan qiang shu Cardiac Intensive Care Unit The Children's Hospital of Zhejiang University School of MedicineHangzhouChina The Key Laboratory for Diagnosis and Therapy of Neonatal Diseases The Children's Hospital of Zhejiang University School of MedicineHangzhouChina Department of Thoracic and Cardiovascular Surgery The Children's Hospital of Zhejiang University School of MedicineHangzhouChina Department of Anesthesiology The First Affiliated Hospital of Zhejiang University School of MedicineHangzhouChina Department of Surgery University of Pittsburgh School of MedicinePittsburghPAUSA

Background Acute kidney injury(AKI)after cardiopulmonary bypass(CPB)is a common complication especially in pedi-atric population.Plasma gelsolin(pGSN)is an anti-inflammatory factor through binding with actin and pro-inflammatory cytokines in circulation.Decrease in pGSN has been reported in some pathologic conditions.The purpose of the study was to determine the alterations of pGSN level in infants and young children after CPB and the role of pGSN as a predictor for the morbidity and severity of post-CPB AKI.Methods Sixty-seven infants and young children at age≤3 years old undergoing CPB were prospectively enrolled.PGSN levels were measured during peri-operative period with enzyme-linked immuno-sorbent assay and normalized with plasma total protein concentration.Other clinical characteristics of the patients were also recorded.Results In patients developing AKI,the normalized pGSN(pGSN_(N))levels significantly decreased at 6 h post-operation and remained low for 24 h post-operation as compared to the patients with non-AKI.PGSNN at 6 h post-operation combining with CPB time presents an excellent predictive value for AKI.Conclusions Decreased pGSN_(N)identifies post-CPB AKI in the patients≤3 years old,and is associated with adverse clini-cal outcomes.The findings suggest that circulating GSN in post-CPB patients may have beneficial effects on diminishing inflammatory responses.

关键词： Acute kidney injury Cardiopulmonary bypass Infants Plasma gelsolin Young children

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Palladium-catalyzed direct construction of oxazoline-containing polycyclic scaffolds via tandem addition/cyclization of nitriles and arylboronic acids

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Organic Chemistry Frontiers 2022年第1期9卷 123-128页

作者： shu-qiang Cui Na Cheng Qian-Qian Ma Zhong-Lin Wei Wei-Wei Liao Department of Organic Chemistry College of ChemistryJilin UniversityChangchun 130012P.R.China State Key Laboratory of Organometallic Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesShanghai 200032P R China

An efficient construction of oxazoline-containing polycyclic scaffolds is presented through a Pd-catalyzed addition/cyclization of(hetero)arene tethered O-acyl cyanohydrin units and arylboronic acids.Diverse oxazoline-containing polycyclic compounds can be prepared in good to high yields under mild reaction conditions.This method can be extended to prepare multi-substituted polycyclic heterocyclic compounds via a Pd-catalyzed addition/cyclization/arylation tandem sequence using arylboronic acid and different heteroarene scaffolds such as thiophene,pyrrole and furan analogues.

关键词： conditions boron catalyzed

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三级公立医院个人科研绩效考核应用实践分析

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中华医学科研管理杂志 2024年第1期37卷 50-57页

作者：丁雯朱依滢毛建华舒强浙江大学医学院附属儿童医院、国家儿童健康与疾病临床医学研究中心杭州310052

目的应用实施个人科研绩效考核, 发现医院发展过程中的优势及短板, 为医院科技政策制定提供依据。方法构建医院科研绩效考核系统, 连续3年在全院范围内分类开展个人科研绩效考核。对个人考核结果进行深入分析, 采用多样本秩和检验, 分... 详细信息

目的应用实施个人科研绩效考核, 发现医院发展过程中的优势及短板, 为医院科技政策制定提供依据。方法构建医院科研绩效考核系统, 连续3年在全院范围内分类开展个人科研绩效考核。对个人考核结果进行深入分析, 采用多样本秩和检验, 分析年度间、系列间考核得分整体水平是否存在差异。采用两样本秩和检验, 分析晋升与非晋升组间是否存在差异。采用χ^(2)检验, 分析年龄、学位、性别和生育情况是否影响考核等级。结果 2020—2022年, 个人科研绩效考核得分呈整体上升趋势, 人均考核得分从35.26分大幅提高至74.04分。不同职称人员考核得分存在着统计学差异, 科研业绩呈现正高>副高>中级。晋升与非晋升组间不存在着统计学差异。结论初步证明, 个人科研绩效考核能有效引导科研人员科技创新活动, 在提高医院整体科研实力中起到了积极作用。数据分析结果提示, 通过紧抓新入职博士学位人员、建立"传帮带"形式帮扶指导制度、给予女性研究人员倾斜支持政策, 有望持续提升医院科研业绩。考核结果为管理部门提供了一把"量尺", 为科技政策制定提供了数据支撑。

关键词：科研绩效考核考核指标评价标准管理策略

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Surgical minimal invasive left atrial decompression during venoarterial extracorporeal membrane oxygenation for pediatric acute fulminant myocarditis

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World Journal of Pediatric Surgery 2021年第4期4卷 44-46页

作者： Li Fen Ye qiang shu Chenmei Zhang Yong Fan Liyang Ying Lijun Yang Ru Lin Heart Institute Zhejiang University School of Medicine Children's HospitalHangzhouZhejiangChina Pediatric Intensive Care Unit Zhejiang University School of Medicine Children's HospitalHangzhouZhejiangChina Extracorporeal Circulation and Extracorporeal Life Support Zhejiang University School of Medicine Children's HospitalHangzhouZhejiangChina

Venoarterial extracorporeal membrane oxygenation(VA ECMO)has been considered as the first-line treatment for acute fulminant myocarditis(AFM)when traditional treatment is ineffective.Peripheral vascular VA ECMO can partially reduce right ventricular preload,but it can increase left ventricular(LV)after-load.1 The increased afterload may cause difficulty in LV blood ejection in patients with severely impaired LV function.

关键词： impaired arterial acute

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Europe vs.China:Pholcus(Araneae,Pholcidae)from Yanshan-Taihang Mountains confirms uneven distribution of spiders in Eurasia

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Zoological Research 2022年第4期43卷 532-534页

作者： Ying Lu Chang Chu Xiao-Qing Zhang shu-qiang Li Zhi-Yuan Yao College of Life Science Shenyang Normal UniversityShenyangLiaoning 110034China Institute of Zoology Chinese Academy of SciencesBeijing 100101China Liaoning Key Laboratory of Evolution and Biodiversity ShenyangLiaoning 110034China Liaoning Key Laboratory for Biological Evolution and Agricultural Ecology ShenyangLiaoning 110034China

DEAR EDITOR,Morphological and molecular data were used to study 35 species of the Pholcus phungiformes species group from the Yanshan-Taihang Mountains in China.The uneven distribution pattern of spiders in Eurasia is discussed,with a focus on Europe and China.Europe covers approximately 10.18 million km2 in western Eurasia,while China covers about 9.6 million km2 in the east.Due to their relative positions to each other and similar land areas,spider species richness in Europe and China is comparable(Li,2020).

关键词： China distribution Mountains

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