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Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

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Chinese Medical Journal 2013年第18期126卷 3427-3432页

作者： WANG Xue LIU Xue-wu nora lee LIU Qi-ji LI Wen-na HAN Tao WEI Kun-kun QIAO Shan CHI Zhao-fu Department of Neurology Qilu Hospital Shandong University Jinan Shandong 250012 China Department of Neurology Hartford Hospital Hartford Connecticut 06106 USA Department of Medical Genetics Key Laboratory for Experimental Teratology of the Ministry of Education Shandong University School of Medicine Jinan Shandong 250012 China

Background Familial cerebral cavernous malformations （CCMs）, characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging （MRI） features and pathogenic gene mutation of this family. Methods Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction （PCR） and direct sequencing were performed with genomic DNA extracted from 25 family members＇ blood samples for mutation detection. Results Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo （GRE） sequence was more sensitive to find micro- cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation. Conclusions The clinical manifestations were heterogenic within this family. We identified a novel mutation （c.1396delT） was the disease-caus

关键词： cavernous malformation pathology magnetic resonance imaging CCM1 gene mutation Chinese family

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韩国老年人辅助器具与标准化

中国康复理论与实践 2011年第6期17卷 592-594页

作者： Kyuyeoun lee HyunKyoon Lim Mie Choi Hyejin lee nora lee 王保华何川韩国老年人辅助器具协会韩国标准与科学研究所韩国技术与标准署中国残疾人辅助器具中心北京市100068

与亚洲其他国家相似,韩国也正步入老龄化社会。针对老年人的社会福利体系、人力资源以及相关辅助器具是保持社会健康和生产力的要素。本文介绍了韩国老年人辅助器具与标准的现状,分析了韩国老年人产业、长期护理保险计划和其他福利计划... 详细信息

与亚洲其他国家相似,韩国也正步入老龄化社会。针对老年人的社会福利体系、人力资源以及相关辅助器具是保持社会健康和生产力的要素。本文介绍了韩国老年人辅助器具与标准的现状,分析了韩国老年人产业、长期护理保险计划和其他福利计划的现状,并讨论了老年人辅助器具的范畴及标准化的现状。

关键词：老年人辅助器具标准化老龄化韩国

汉族人家族性脑海绵状血管畸形的临床、病理、磁共振特点及分子遗传学研究

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汉族人家族性脑海绵状血管畸形的临床、病理、磁共振特点及分子遗...

Risk of complications and urinary incontinence following cytoreductive prostatectomy： a multi-institutional study

山东省2013年神经内科学学术会议暨中国神经免疫大会2013

作者：刘学伍王雪 nora lee 刘奇迹李文娜韩涛位坤坤乔珊迟兆富山东大学齐鲁医院神经内科

背景:家族性脑海绵状血管畸形临床表现为脑出血、反复头痛和癫痫等,主要由中枢神经系统血管畸形引起。家族性脑海绵状血管畸形是一种常染色体显性遗传性疾病,目前已经鉴定3种致病基因。我们报告一个汉族人家族性海绵状血管畸形大家系,...

背景:家族性脑海绵状血管畸形临床表现为脑出血、反复头痛和癫痫等,主要由中枢神经系统血管畸形引起。家族性脑海绵状血管畸形是一种常染色体显性遗传性疾病,目前已经鉴定3种致病基因。我们报告一个汉族人家族性海绵状血管畸形大家系,揭示该病的临床、病理、磁共振特点,以及致病基因突变。

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Asian Journal of Andrology 2018年第1期20卷 9-14页

作者： Dae Keun Kim Jaspreet Singh Parihar Young Suk Kwon Sinae Kim Brian Shinder Nara lee Nicholas Farber Thomas Ahlering Douglas Skarecky Bertram Yuh nora Ruel Wun-lae Kim Koon Ho Rha Isaac Yi Kim Department of Urology CHA Seoul Station Medical Center CHA University CHA Medical School Seou104637 Korea Department of Urology School of Medicine Graduate School Hanyang University Seou104763 Korea Section of Urologic Oncology Rutgers Cancer Institute of New Jersey and Division of Urology Rutgers Robert Wood Johnson Medical School Rutgers The State University of New Jersey New Brunswick 08901 USA Department of Biostatistics Rutgers School of Public Health The State University of New Jersey New Brunswick NJ Piscataway 08854 USA Department of Internal Medicine Rutgers Robert Wood Johnson Medical School Rutgers The State University of New Jersey New Brunswick 08901 USA Department of Urology University of California Irvine School of Medicine Orange 92687 USA Division of Urology and UroLogic Oncology City of Hope National Medical Center Duarte 91010 USA Department of Urology Chungbuk National University College of Medicine Cheongju 28644 Korea Department of Urology and Urological Science Institute College of Medicine Yonsei University Seou103722. Korea

Emerging evidence has suggested that cytoreductive prostatectomy （CRP） allows superior oncologic control when compared to current standard of care androgen deprivation therapy alone. However, the safety and benefit of cytoreduction in metastatic prostate cancer （mPCa） has not been proven. Therefore, we evaluated the incidence of complications following CRP in men newly diagnosed with mPCa. A total of 68 patients who underwent CRP from 2006 to 2014 at four tertiary surgical centers were compared to 598 men who underwent radical prostatectomy for clinically localized prostate cancer （PCa）. Urinary incontinence was defined as the use of any pad. CRP had longer operative times （200 min vs 140 min, P 〈 0.0001） and higher estimated blood loss （250 ml vs 125 ml, P 〈 0.0001） compared to the control group. However, both overall （8.82% vs 5.85%） and major complication rates （4.41% vs 2.17%） were comparable between the two groups. Importantly, urinary incontinence rate at 1-year after surgery was significantly higher in the CRP group （57.4% vs 90.8%, P 〈 0.0001）. Univariate logistic analysis showed that the estimated blood loss was the only independent predictor of perioperative complications both in the unadjusted model （OR： 1.18; 95% Ch 1.02-1.37; P= 0.025） and surgery type-adjusted model （OR： 1.17; 95% Ch 1.01-1.36; P= 0.034）. In conclusion, CRP is more challenging than radical prostatectomy and associated with a notably higher incidence of urinary incontinence. Nevertheless, CRP is a technically feasible and safe surgery for selecting PCa patients who present with node-positive or bony metastasis when performed by experienced surgeons. A prospective, multi-institutional clinical trial is currently underway to verify this concept.

关键词： cytoreductive surgical procedures metastatic prostate cancer outcome radical prostatectomy

Microcosm study on fate and dynamics of mangrove tannins during leaf litter leaching

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Ecological Processes 2023年第1期12卷 520-533页

作者： Hai-Chao Zhou Hui-Xing Kang Jian Wei Chang-Jun Gao Muzammil Hussain Yi-Jian Fu Ming-Dang Li Feng-Lan Li Steven Jing-Liang Xu Fred Wang-Fat lee Ming-Guo Jiang Yi-Bing Wang Xiao-Xia Chen nora Fung-Yee Tam Tao Lang Greater Bay Area Coastal Mangrove Wetland Research&Development Centre MNR Key Laboratory for Geo-Environmental Monitoring of Great Bay AreaCollege of Life Sciences and OceanographyShenzhen UniversityShenzhen 518060China Institute of Ecology College of Urban and Environmental Sciences and Key Laboratory for Earth Surface Processes of Ministry of EducationPeking UniversityBeijing 100091China Guangdong Provincial Key Laboratory of Silviculture Protection and UtilizationGuangdong Academy of ForestryGuangzhou 510520China School of Science and Technology The Hong Kong Metropolitan UniversityKowloonHong Kong 999077SARChina Guangxi Key Laboratory for Polysaccharide Materials and Modifications School of Marine Sciences and BiotechnologyGuangxi Minzu UniversityNanning 530008China State Key Laboratory of Marine Pollution City University of Hong KongKowloonHong Kong 999077SARChina

Background Mangrove tannins can participate in wetland biogeochemical ***,their fate and dynamics during leaf litter leaching have yet to be elucidated in coastal aquatic *** By using a simulated microcosm experiment,changes in leaf litter mass and tannin compounds,including total phenolics(TP),extractable condensed tannins(ECT),and bound condensed tannins(BCT),were examined in the litters and leachates of four common mangrove species:Kandelia obovata(Ko),Aegiceras corniculatum(Ac),Sonneratia apetala(Sa),and Avicennia marina(Am).Results Leaching caused a notable decline in litter mass,TP,and ECT in the leaf litter of Ko,Ac,Sa,and Am,while BCT increased significantly in Ko and *** in foliar TP was higher than in leaf litter mass,and loss in foliar ECT was higher than in TP of Ko and Ac,but Sa showed the opposite *** temporal changes of TP and ECT concentrations in leachates followed a similar trend,with an initial increase followed by a *** dynamics in Ko and Ac leachates correlated with their TP concentrations,while in Sa leachate,the peak ECT occurred 72 h later than its TP *** leachate ECT concentrations were highest in Ac,followed by Ko,and significantly lower in *** peak TP and ECT proportions in leachates accounted for 9.2-23.9%and 7.7-9.4%of the total decreases in foliar TP and ECT,*** During the leaching process,tannins’fate was species-specific,while the dynamics were almost similar.

关键词： Mangrove tannins Leaf litter decomposition Leaching Total phenolics Condensed tannins

指导性集体锻炼对治疗中的早期乳腺癌妇女的益处:实用性随机对照试验

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英国医学杂志中文版 2007年第4期10卷 210-213页

作者： Nanette Mutrie Anna M Campbell Fiona Whyte Alex McConnachie Carol Emslie Laura lee nora Kearney Andrew Walker Diana Ritchie 方桦（译）王燕（校） Department of Sport Culture and the ArtsStrathclyde UniversityGlasgow G13 1PP Nursing and Midwifery School University of GlasgowGlasgow G12 8LW Robertson Centre for Biostatistics University of Glasgow G12 8QQ MRC Social and Public Health Sciences Unit Glasgow G12 8RZ Cancer Care Research Centre Department of Nursing and MidwiferyUniversity of StirlingStirling FK9 4LA Beatson Oncology Centre Glasgow G11 6NT 不详

目的确定12周指导性集体锻炼对治疗中的早期乳腺癌患者在机体功能和心理上的获益,并随访6个月。设计实用性、前瞻性、随机对照、开放性试验。地点苏格兰3家国家医疗卫生服务体系肿瘤门诊和社区运动设施。参加者共203位妇女参加研究;其中... 详细信息

目的确定12周指导性集体锻炼对治疗中的早期乳腺癌患者在机体功能和心理上的获益,并随访6个月。设计实用性、前瞻性、随机对照、开放性试验。地点苏格兰3家国家医疗卫生服务体系肿瘤门诊和社区运动设施。参加者共203位妇女参加研究;其中177位完成6个月随访。干预与常规护理相对照,干预组予12周指导性集体锻炼加常规护理。主要结果评价癌症治疗功能评价(FACT)问卷、贝克抑郁问卷、正性和负性情绪量表、体重指数、7日体力活动回忆问卷、12分钟步行实验和肩关节活动度评估。结果对基线值、研究中心、基线治疗和参加干预试验时的年龄进行校正后,综合效应模型的评估结果(干预组减对照组)显示第12周时:12分钟步行距离为129米(95%可信区间83～176),1周的中等强度活动时间182分钟(75～289),肩关节活动度2.6(1.6～3.7),乳腺癌特定的生活质量量表2.5(1.0～3.9),正性情绪4.0(1.8～6.3)。初步结果未发现干预锻炼对生活质量综合量表(FACT-G)有影响。随访6个月后,大多数效果维持不变,并且在乳腺癌特定的生活质量上得到改善。尚未有不良反应的报道。结论在12周干预锻炼结束时以及6个月后,指导性集体锻炼均显示出机体功能和心理上的获益。因此临床医生应该鼓励患者活动,决策者们应该考虑把体育锻炼纳入到癌症康复服务中来。试验注册号当前对照试验 ISRCTN12587864[***]。

关键词：随机对照试验早期乳腺癌体育锻炼治疗功能集体妇女生活质量量表医疗卫生服务体系

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滨海湿地植物对赤潮藻的化感效应研究进展

沈阳农业大学学报 2023年第2期54卷 239-247页

作者：李元跃熊章静谭凤仪李宏发徐景亮李凤兰胡柳柳郎涛集美大学水产学院/福建省海洋渔业资源与生态环境重点实验室福建厦门361021 广东内伶仃福田国家级自然保护区管理局大湾区红树林湿地研发中心广东深圳518040 香港都会大学科技学院中国香港999077 广东内伶仃福田国家级自然保护区管理局广东深圳518040 深圳大学生命与海洋科学学院广东深圳518071

当今,由于水体富营养化、全球气候变化与海洋污染等现象的加剧,导致我国赤潮爆发频率逐年递增,进而造成严重的海洋环境危害与渔业经济损失。赤潮毒素甚至可通过生物富集作用,对人类健康构成严重威胁。目前,赤潮的治理方法以物理和化学... 详细信息

当今,由于水体富营养化、全球气候变化与海洋污染等现象的加剧,导致我国赤潮爆发频率逐年递增,进而造成严重的海洋环境危害与渔业经济损失。赤潮毒素甚至可通过生物富集作用,对人类健康构成严重威胁。目前,赤潮的治理方法以物理和化学方法为主,但此类方法具有高成本、二次污染等缺点,因此寻找更安全有效的生物治理方法显得尤为重要。生物防治赤潮主要是通过植物之间的化感作用来实现,目前其已成为生态学的研究热点之一。在淡水生态系统中,利用水生大型植物的化感活性物质来控制水华已有了较深入的研究,然而在海洋生态系统中的相关研究则较为少见,现阶段仅有极少数研究报道有涉及滨海植物活性物质对赤潮藻爆发的抑制作用。对于这些起到抑制作用的活性物质中具体的有效成分,不同滨海湿地植物是否普遍含有这些活性物质,这些活性物质的含量与环境因子的关系以及这些物质对赤潮藻的抑制机制等问题,仍然是未知的。综述了不同滨海湿地植物对赤潮藻的抑藻化感作用及其化感抑藻机制,并展望今后化感物质防治赤潮的发展前景,希望在未来能通过室内控制实验具体分离并鉴定出最有效的抑制赤潮爆发的植物活性物质,旨在为后续开发高效、生态友好的抑制赤潮爆发的生物治理手段提供有效的科学依据。

关键词：赤潮藻滨海湿地植物生物富集作用化感作用化感抑藻机制

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