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Genomic landscapes of Chinese sporadic autism spectrum disordersrevealed by whole-genome sequencing

Journal of Genetics and Genomics 2018年第10期45卷 527-538页

作者： Jinyu Wu Ping Yu Xin Jin Xiu Xu Jinchen Li Zhongshan Li Mingbang Wang Tao Wang Xueli Wu Yi Jiang Wanshi Cai Junpu Mei Qingjie Min Qiong Xu Bingrui Zhou Hui Guo Ping Wang Wenhao Zhou Zhengmao Hu Yingrui Li Tao Cai Yi Wang Kun Xia Yong-Hui Jiang Zhong Sheng Sun Institute of Genomic Medicine Wenzhou Medical UniversityWenzhou 325000China BGI-Shenzhen Shenzhen 518083China Department of Child Healthcare Children's Hospital of Fudan UniversityShanghai 200032China State Key Laboratory of medical Genetics Central South UniversityChangsha 410078China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China Department of Pediatrics and Neurobiology Duke University School of MedicineDurhamNC 27710USA

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic *** this study,we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD,including de novo mutations,inherited variants,copy number variants (CNVs) and genomic structural variants.A higher mutation rate (Poisson test,P<2.2×10^(-16)) in exonic (1.37×10^(-8)) and 3'-UTR regions (1.42×10^(-8)) was revealed in comparison with that of whole genome (1.05×10^(-8)).Using an integrated model,we identified 87 potentially risk genes (P<0.01) from 4832 genes harboring various rare deleterious variants,including CHD8 and NRXN2,implying that the disorders may be in favor to *** particular,frequent rare inherited mutations of several microcephaly-associated genes (ASPM,WDR62,and ZNF335)were found in *** chromosomal structure analyses,we found four de novo CNVs and one de novo chromosomal rearrangement event,including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1,which causes Angelman syndrome and microcephaly,and a disrupted TNR due to de novo chromosomal translocation t (1;5) (q25.1;q33.2).Taken together,our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of *** of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders,such as ASD,could provide novel insights into pathogenesis,diagnosis and treatment.

关键词： Autism spectrum disorders De novo mutations Microcephaly-associated genes Whole-genome sequencing

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Nutritional Assessment of Gynecological Cancer Patients in China

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Journal of Nutritional Oncology 2017年第3期2卷 145-152页

作者： Wen Ying Li Guo Lan Gao Chun Hua Song Chang Wang Zeng Qing Guo Yuan Lin Ying Ying Shi Wen Hu Yi Ba Su Yi Li Zeng Ning Li Kun Hua Wang Jing Wu Ying He Jia Jun Yang Fu Xiang Zhou Cong Hua Xie Xin Xia Song Gong Yan Chen Wen Jun Ma Su Xia Luo Zi Hua Chen Ming Hua Cong Jian Xiong Wu Chun Ling Zhou Wei Wang Qi Luo ong Mei Shi Yu Mei Qi Hai Ping Jiang Wen Xian Guan Jun Qiang Chen Jia Xin Chen Yu Fang Lan Zhou Yong Dong Feng Rong Shao Tan Tao Li Jun Wen Ou Qing Chuan Zhao Zhen Ming Fu Hong Xia Xu Wei Li Han Ping Shi Investigation on nutrition status and its clinical outcome of common cancers (INSCOC) group Department of Obstetrics and Gynecology Aviation General HospitalChaoyang DistrictBeijingChina Department of Nutrition and Metabolism of Oncology Affiliated Provincial Hospital of Anhui Medical UniversityHefeiAnhui 230031China Department of Clinical Nutrition the First Hospital of Hefei Medical UniversityShijiazhuangHebei 050031China Department of Gastrointestinal Surgery Institute of Gastroenterologythe First Affiliated Hospital of Kunming Medical UniversityKunmingYunnan 650032China Department of Clinical Nutrition the First People’s Hospital of KashiXinjiang 844000China Zhongshan Chenxinghai Hospital(Affiliated ZhongshanChenxinghai Hospital of Guangdong medical University) ZhongshanGuangdong 528400China Department of Clinical Nutrition Chongqing General HospitalChongqing 40014China Department of Colorectal and Anal Surgery Huizhou Municipal Central HospitalHuizhouGuangdong 516001China Department of Radiation and medical Oncology Zhongnan Hospital of Wuhan UniversityWuhanHubei 430071China Department of Oncology Xingtai People’s HospitalHebei Medical UniversityXingtaiHebei 054031China The First Department of Tumor Hospital of Harbin medical University HarbinHeilongjiang 150085China College of Medicine Chinese Academy of SciencesHuairou DistrictBeijingChina Department of Nutrition Guangdong General HospitalGuangdong Academy of Medical SciencesGuangzhouGuangdong 510080China Department of Oncology Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer HospitalZhengzhouHenan 450008China Department of General Surgery Xiangya HospitalCentral South UniversityChangshaHunan 410008China Comprehensive Oncology Department Cancer HospitalChinese Academy of Medical SciencesBeijing 100021China Abdominal Surgery Department Cancer Institute and HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100021China The Fourth Affiliated Hospital Harbin Medical UniversityHarbinHeilongjiang 150001China Cancer center the First People’s Hospital of

Background Malnutrition is common among cancer patients,but few studies have evaluated the nutritional status among gynecological cancer patients in *** study aimed to assess the nutritional status of women with gynecological cancer using the patient-generated subjective global assessment(PG-SGA).Methods Data for gynecological cancer patients treated at 44 tertiary hospitals were retrieved from a multicenter study on tumor *** R Software was used for statistical *** analyses of PG-SGA scores were performed using the Chi-squared test for categorical variables and the Wilcoxon-rank sum test or Kruskal-Wallis test for continuous variables,as *** significance level was *** Data for 1962 women with three types of gynecological cancer(cervical,uterine and ovarian cancer)were used for the data *** median PG-SGA score was 4(interquartile range,IQR:1,8),the median participants’age was 51(IQR:46,59)years old,and the patients had a median BMI of 22.9(IQR:20.7,25.4).The percentages of women who had a medical co-morbidity,or had undergone any radical resection,chemotherapy,or radiotherapy were approximately 27.7%,55.4%,52.5%,and 30.2%,*** levels of serum albumin and high density lipoprotein cholesterol(HDL-C)were 40.1g/L(IQR:36.8,43.1)and 1.2mmol/L(IQR:1.0,1.5),*** identified risk factors for malnutrition based on the PG-SGA score were age(0.05±0.01,p=0.002),BMI(-0.34±0.04,pmedical co-morbidity(0.95±0.33,p=0.004),receiving radiotherapy(1.52±0.31,pmedical co-morbidity,and receiving radiotherapy,and is negatively related to the patients’BMI and serum albumin and HDL-C levels.

关键词： Albumin Gynecological cancer HDL-C Malnutrition Patient-generated Subjective Global Assessment

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Ultra-fast bacterial inactivation of Cu_(2)O@halloysite nanotubes hybrids with charge adsorption and physical piercing ability for medical protective fabrics

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Journal of Materials Science & Technology 2022年第27期122卷 1-9页

作者： Yaping Wang Qianqian Wang Guoyi Wu Hengxue Xiang Mugaanire Tendo Innocent Mian Zhai Chao Jia Peng Zou Jialiang Zhou Meifang Zhu State Key Laboratory for Modification of Chemical Fibers and Polymer Materials College of Materials Science and EngineeringDonghua UniversityShanghai 201620China Shanghai Public Health Clinical center Fudan UniversityShanghai 200540China

Metals have been used for wound treatment and toxicity testing since ancient *** the development of nanotechnology,metal oxides have been proven to have excellent sterilization and disinfection ***,the rapid bacterial inactivation efficiency and trapping physicochemical killing ability remain simultaneously undemonstrated in antibacterial ***,we demonstrate a method for in-situ reduction of small-sized Cu_(2)O particles on one-dimensional inorganic halloysite nanotubes(HNTs).The resultant Cu_(2)O@HNTs hybrids not only give Cu_(2)O excellent dispersibility,but also exert the synergistic effect of the charge adsorption of metal oxides and the physical piercing effect of the small-sized ***,the release of Cu^(2+)from hybrids damages cell membranes and denatures proteins and *** this sterilization mechanism,Cu_(2)O@HNTs allow for the inactivation rate of Escherichia coli to reach 94.5%within 2 min and complete inactivation within 10 *** excellent sterilization mode makes Cu_(2)O@HNTs exhibit excellent broad-spectrum antibacterial activity and inactivation efficiency,while shows weak *** hybrids were further applied in the processing of functional antibacterial fibers and ***,we believe that this excellent antibacterial hybrid is practically attractive in this critical time of the COVID-19 pandemic.

关键词： Cu_(2)O Halloysite nanotubes Antibacterial activity Efficient inactivation Protective fabrics

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Additional Imaging Following a Negative Sestamibi Scan in Primary Hyperparathyroidism

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international Journal of Otolaryngology and Head & Neck Surgery 2012年第3期1卷 93-98页

作者： Bas Twigt Anne Vollebregt Piet de Hooge Alex Muller Thijs van Dalen Department of Internal Medicine Diakonessen Hospital Utrecht Utrecht The Netherlands Department of Nuclear Medicine Diakonessen Hospital Utrecht Utrecht The Netherlands Department of Surgery Diakonessen Hospital Utrecht Utrecht The Netherlands Department of Surgery University Medical Center Utrecht Utrecht The Netherlands

Background: The objective of this study was to assess the additional yield of US and CT following a “negative” initial MIBI-scintigraphy (MIBI) in patients with primary hyperparathyroidism. Methods: Prospective data were collected regarding 100 consecutive patients, preferentially undergoing a minimally invasive parathyroidectomy (MIP). MIBI was the initial imaging study for localizing a solitary adenoma, followed by US and CT (US/CT) in “MIBI-negative”-patients. Results: Surgery led to normocalcemia in 98 patients (98%) after one operation. Overall 97 patients had solitary parathyroid disease while three patients had multiglandular disease. The sensitivity of imaging increased from 74% for MIBI alone to 92% following subsequent US/CT in “MIBI-negative”-patients. The positive predictive value of a “positive” MIBI was 96% and 76% of a positive US/CT following negative MIBI. The proportion of patients who underwent successful MIP increased from 60 to 72%. Conclusions: MIBI and the combination of US and CT are complementary imaging studies. Additional localization studies after a negative sestamibi scan enhances the number of patients with primary hyperparathyroidism profiting from a minimally invasive approach.

关键词： Imaging-Primary Hyperparathyroidism-Sestamibi Scan-Ultrasound-CT

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透视下经皮刷片细胞学检查、钳夹活检及联合应用对恶性胆道梗阻的诊断价值

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国际医学放射学杂志 2018年第2期 243-243页

作者： J.Boos R.J.Yoo J.Steinkeler G.Ayata M.Ahmed A.Sarwar 张琪 Department of Radiology Beth Israel Deaconess Medical Center Harvard Medical School

摘要目的评估透视下经皮刷片细胞学检查、钳夹活检及联合应用对恶性胆道梗阻的诊断价值。方法对2010年1月—2014年9月间做过胆道刷片细胞学检查和钳夹活检的

关键词：细胞学检查恶性胆道梗阻联合应用诊断价值

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急性B型主动脉夹层患者假腔部分血栓形成

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世界核心医学期刊文摘（心脏病学分册） 2007年第12期3卷 10-11页

作者： Tsai T.T. Evangelista A. Nienaber C.A. 罗亮 University of Michigan Cardiovascular Center 1500 E. Medical Center Dr. Ann Arbor MI 48109- 5853 United States.Dr

背景:急性B型主动脉夹层假腔未闭合或血栓形成已被发现可以预测结果。假腔部分血栓形成的预后意义尚未阐明。方法:对1996—2003年间纳入急性主动脉夹层国际注册研究且出院时存活的201例急性B型主动脉夹层患者进行了分析。根据当次住院... 详细信息

背景:急性B型主动脉夹层假腔未闭合或血栓形成已被发现可以预测结果。假腔部分血栓形成的预后意义尚未阐明。方法:对1996—2003年间纳入急性主动脉夹层国际注册研究且出院时存活的201例急性B型主动脉夹层患者进行了分析。根据当次住院期间的假腔状态(未闭合、部分血栓形成或完全血栓形成)对Kaplan-Meier死亡率曲线进行分层。

关键词：假腔未闭住院期间主动脉夹层血栓形成血栓栓塞患者

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Impact of EBV infection and immune function assay for lymphoproliferative disorder in pediatric patients after liver transplantation: A single-center experience

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Hepatobiliary & Pancreatic Diseases international 2020年第1期19卷 3-11页

作者： Tian Qin Xiang-Qian Gu Seog-Song Jeong Yan-Yan Song Jin-Chuan Liu Jian-Xin Zheng Feng Xue Qiang Xia Department of Liver Surgery Renji HospitalSchool of MedicineShanghai Jiaotong UniversityShanghai 200127China Department of Biostatistics Institute of Medical SciencesShanghai Jiaotong University School of MedicineShanghai 200025China

Background:Post-transplant lymphoproliferative disorder(PTLD)is a lethal complication after pediatric liver transplantation,but information regarding risk factors for the development of PTLD remains *** study was to identify characteristics and risk factors of ***:A total of 705 pediatric patients who underwent liver transplantation between January 2017 and October 2018 were *** of clinical characteristics and Epstein-Barr virus(EBV)infection on the development of PTLD was *** addition,ImmuKnow assay was adopted in partial patients to analyze the immune ***:Twenty-five(3.5%)patients suffered from PLTD with a median time of 6 months(3–14 months)after *** high tacrolimus(TAC)level was found in 2 fatal cases at PTLD *** infection was found in 468(66.4%)patients.A higher peak EBV DNA loads(>9590 copies/mL)within 3 months was a significant indicator for the onset of *** addition,the ImmuKnow assay demonstrated that overall immune response was significantly lower in patients with EBV infection and PTLD(P<0.0001).The cumulative incidence of PTLD was also higher in patients with lower ATP value(≤187 ng/mL,P<0.05).Conclusions:A careful monitoring of EBV DNA loads and tacrolimus concentration might be supportive in prevention of PTLD in pediatric patients after liver *** addition,application of the ImmuKnow assay may provide guidance in reducing immunosuppressive agents in treatment of PTLD.

关键词： Post-transplant lymphoproliferative disor Pediatric liver transplantation Epstein-Barr virus

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肝病变、肺结节及肾结石的多层螺旋CT定量特征:依赖于辐射剂量及重建算法

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国际医学放射学杂志 2016年第3期 314-315页

作者： J.Solomon A.Mileto R.C.Nelson K.Roy Choudhury E.Samei 刘文斐 Carl E.Ravin Advanced Imaging Laboratories Department of RadiologyDuke University Medical Center

摘要目的确定辐射剂量及重建算法对肺结节、肝病变及肾结石的多层螺旋CT定量特征的计算机提取及分析的影响。方法回顾性分析一项符合HIPAA、经伦理委员会批准的前瞻性多中心临床试验数据。提取2011年9月—2012年4月间的20例确诊或疑似... 详细信息

摘要目的确定辐射剂量及重建算法对肺结节、肝病变及肾结石的多层螺旋CT定量特征的计算机提取及分析的影响。方法回顾性分析一项符合HIPAA、经伦理委员会批准的前瞻性多中心临床试验数据。提取2011年9月—2012年4月间的20例确诊或疑似有肝局灶性病变、肺结节或肾结石的成年病人(男14例,女6例,年龄38～72岁,平均63岁)的

关键词：肺结节辐射剂量多层螺旋肾结石肾石病重建算法 CT

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胸部CT上亚实性肺腺癌结节的生长速率

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国际医学放射学杂志 2020年第6期 742-742页

作者：董力宁 C.de Margerie-Mellon L.H.Ngo R.R.Gill A.C.M.Filho B.H.Heidinger A.Onken Department of Radiology Beth Israel Deaconess Medical Center and Harvard Medical School

摘要确认亚实性腺癌呈指数式增长很重要,因为这将证明应用体积倍增时间评估其生长是合理的。目的检验胸部CT上表现为亚实性结节的肺腺癌生长是否可以由1个指

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三维深度卷积神经网络用于肥厚性心肌病的自动心肌瘢痕定量：一个多中心多供应商研究

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国际医学放射学杂志 2020年第2期 232-232页

作者： A.S.Fahmy U.Neisius R.H.Chan E.J.Rowin W.J.Manning M.S.Maron 朱羽苑 Department of Medicine Beth Israel Deaconess medical center and Harvard medical School

心肌MRI钆延迟强化(LGE)瘢痕体积是预测肥厚型心肌病(HCM)病人预后的重要标志,但由于缺乏测量标准,其临床应用受到限制。目的开发和评估基于三维(3D)卷

关键词：心肌瘢痕肥厚性心肌病多供应商深度卷积神经网络

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