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1.
目的 了解中华骨髓库四川分库中HLA-B* 07∶10的HLA-A,-B,-C,- DRB1,-DQB1 5座位高分辨单体型构成及其分布特点.方法 在中华骨髓库四川分库2010~2011年入库数据中,查询含有HLA-B* 07∶10的标本,补充其HLA-C,-DQB1高分辨资料;采集家系进行5座位高分辨分型,推导其单体型.以HaploStats查询该单体型在全球的分布.结果 筛选到含有HLA-B* 07∶10的标本16例.这14名捐献者均携带单体型HLA-A* 02∶ 01-B*07∶ 10-C*07∶02-DRB1* 03∶01-DQB1* 02∶01;另2例标本包含HLA-A*02∶ 01-B*07∶ 10-C* 07∶02,但HLAⅡ类不含有DRB1*03∶01-DQB1* 02∶01.HLA-A*02∶ 01-B* 07∶10-DRB1* 03∶013座位单体型仅在奥地利常见(P >0.001).结论 HLA-B*07∶10在四川骨髓库汉族人群中有独特的分布,其单体型以HLA-A* 02∶01-B* 07∶10-C* 07∶02-DRB1* 03∶ 01-DQB1* 02∶01为主.  相似文献   

2.
本研究探讨父源HLA单倍型染色体A位点基因座间的重组。采集患者及其父母和两个姐姐静脉血标本,用PCR-SSP进行HLA-Ⅰ、Ⅱ类低分辨基因分型,PCR-SSBT进行HLA-A、B、DR位点高分辨基因分型。结果表明,HLA高分辨基因分型证实患者的2条单倍型分别为A*3001-B*1302-DRB1*0701和A*3001-B*5601-DRB1*1454;其父亲的2条单倍型为A*3001-B*1302-DRB1*0701和A*1101-B*5601-DRB1*1454。遗传家系分析显示患者所携有的A*3001-B*1302-DRB1*0701单倍体是源自母亲的一条染色单体,而A*3001-B*5601-DRB1*1454则源自父亲的另一条染色单体,可患者的A位点为3001,而B、DR位点一致。这表明,父亲的2条染色单体在减数分裂时A基因座间发生了交换,重组后的单倍型又完整地遗传给了患者。该家系HLA低分辩和高分辨分型结果和遗传分析表明,子1是亲生;亲子鉴定也证明,子1和父亲、母亲具有亲缘关系;进一步遗传分析证实,子1HLA-A位点发生父源染色体基因重组。结论:本家系为国内首次发现父源HLA单倍型染色体A位点发生...  相似文献   

3.
目的:探讨2个家系人类白细胞抗原(HLA)座位的重组情况。方法:采集家系成员的外周血,提取基因组DNA,采用聚合酶链反应-序列特异性寡核苷酸探针技术(PCR-SSO)和二代测序技术检测HLA-A、-B、-C、-DRB1、-DQB1和-DPB1座位,通过家系遗传分析确定个体HLA单体型。结果:家系1中单体型HLA-A*11:01~C*03:04~B*13:01~DRB1*12:02~DQB1*03:01~DPB1*05:01:01G与HLA-A*03:01~C*04:01~B*35:03~DRB1*12:01~DQB1*03:01~DPB1*04:01:01G在HLA-B和HLA-DRB1座位间进行了交换,形成HLA-A*11:01~C*03:04~B*13:01~DRB1*12:01~DQB1*03:01~DPB1*04:01:01G。家系2中单体型HLA-A*02:06~C*03:03~B*35:01~DRB1*08:02~DQB1*04:02~DPB1*13:01:01G与HLA-A*11:01~C*07:02~B*38:02~DRB1*15:02~DQB1*05:01~DPB1*...  相似文献   

4.
目的 分析中国江苏地区汉族人群造血干细胞捐献志愿者的HLA-A、B、DRB1位点在高分辨基因分型水平上的基因多态性弹倍型分布特征以及常见与罕见等位基因的分布.方法 大量应用基因序列分型技术和少量应用聚合酶链反应-序列特异性寡核苷酸探针技术对中华造血干细胞捐献志愿者资料库江苏分库3238名无关供者的HLA-A、B、DRB1位点等位基因作高分辨分型.结果 HLA-A基因46个,HLA-B基因85个,HLA-DRB1基因51个.HLA-A位点频率最高的是A*11∶01(16.52%),HLA-B位点为B*13∶ 02(11.60%),HLA-DRB1位点为DRBl* 07∶01( 15.78%).单倍型频率最高是A* 30∶ 01-B* 13∶02-DRBl* 07∶01 (8.87%).HLA-A位点常见等位基因(CWD)种类有40种,在样本中的含量达到99.8%,HLA-B位点CWD则有77种(99.5%),HLA-DRB1位点的CWD有47种(99.8%),并发现少量在中国人群未报道的罕见基因.结论 本资料从高分辨水平反映了江苏地区汉族人群HLA的分布状况.对指导临床寻找HLA匹配的无关造血干细胞供者,HLA与疾病相关研究和我国人群群体遗传学研究等有重要意义.  相似文献   

5.
目的探讨提高HLA分型精准性的策略。方法采用聚合酶链反应-序列特异寡核苷酸探针技术、聚合酶链反应-测序分型方法和针对组特异性的序列特异性引物扩增和杂合性模棱两可引物分离法等方法对2009-2014年288份HLA质控品进行HLA低/中/高分辨分型并回报每期结果。结果 HLA分型精准性随着分型方法及试剂的改进更新不断提高,自2011年质控品高分辨提交比例升高至60.6%-94.1%;分型方法的限制性和等位基因指定性错误是导致质控中错检漏检的常见原因。288份质控品检出的等位基因中,仅HLA-A*26∶05、B*08∶12、B*53∶10不包含在美国组织相容性和免疫遗传协会常见及确认的等位基因表2.0内,且A、B、DRB1座位分别有8、22和14个等位基因不包含在中国CWD2.0表内。结论 HLA分型方法试剂的更新换代和实验室质控水平的提升是室间质评分辨度和符合率大幅提高的根本原因。样品因地域种族差异,常呈现出中国人少见或罕见的HLA表型或单体型,ASHI及中国CWD、单体型频率、罕见等位基因频率等群体性资料和生物信息学仍是极具参考价值的数据平台。  相似文献   

6.
目的 研究中华骨髓库湖南分库岳阳地区汉族人群造血干细胞捐献志愿者HLA-A* 02亚型基因多态性分布特点.方法 采用序列特异性寡核苷酸聚合酶链反应技术(PCR-SS0P)和聚合酶链反应-直接测序技术(PCR-SBT),对2010年1月~2011年12月采集的6 000名湖南省岳阳地区汉族人群造血干细胞捐献志愿者进行HLA-A高分辨率分型.结果 在6 000例HLA-A基因分型结果中,共检出3 124例A*02阳性,A* 02低分辨基因频率为0.349,检出的等位基因达到10个,分别为A* 02∶01(0.124),A*02∶02(0.001),A* 02∶03(0.036),A*02∶05(0.001),A* 02∶06(0.034),A* 02∶ 07(0.106),A* 02∶ 10(0.003),A* 02∶11(0.001),A* 02∶249(0.001)和A* 02∶ 256(0.001).其中A*02∶01为优势基因,A*02∶07,A* 02∶03和A*02∶06为常见基因,该研究人群中还检出东南亚人群罕见型基因A*02∶02,A* 02∶05,A*02∶10和A*02∶11及新近发现的罕见基因A*02∶249和A*02∶256.其基因频率分布与中华骨髓库湖北分库的基因频率分布比较差异无统计学意义,而与台湾慈济血库、日本、北爱尔兰、亚裔美国人的基因频率分布比较,差异有统计学意义.此人群A* 02低、高分辨杂合度分别为82.0%和95.8%,其高分辨率纯合子呈现规律性分布.结论 中华骨髓库湖南分库岳阳地区志愿者HLA-A* 02亚基因频率呈高度多态性,与中华骨髓库湖北分库志愿者两个群体间A*02基因频率分布比较差异无统计学意义(x2=7.75,P>0.05),而与台湾慈济血库、日本、北爱尔兰、亚裔美国人群的A*02基因频率分布比较差异有统计学意义(x2=48.54,340.45,655.63,484.9,P<0.01).  相似文献   

7.
目的 研究HLA-Cw位点低分辨基因分型"纯合子"的等位基因特性,为临床移植配型提供精确资料.方法 在43例血缘关系造血干细胞移植(HSCT)供受者中,对中国最常见的低分辨基因分型Cw*03和Cw*07的"纯合子"个体采用聚合酶链反应-序列特异性引物(PCR-SSP)高分辨基因分型方法 进行等位基因定型,并采用自主研制的三维结构匹配软件系统(HLA StrucMark version1.0)对其等位基因产物进行三维结构匹配,以预测不同分辨率分型结果 对移植物抗宿主病(GVHD)发生的影响.结果 低分辨基因分型Cw*03、Cw*07"纯合子"个体的高分辨基因分型结果 显示Cw*03及Cw*07的纯合子分别为14%和43%,其余均为Cw*03及Cw*07杂合子个体.可见其低分辨基因分型易造成供受者问等位基因的错配;在有家系校正的情况下,标本的低分辨模糊结果 可以通过家系遗传分析来校正定型;在无家系校正的情况下,应通过高分辨基因分型来确定等位基因,三维结构差异分析则显示这些错配有可能造成HSCT后GVHD的发生.结论 当低分辨基因分型结果 只出现Cw位点"纯合子"时,有家系的标本应当以家系分型结果 校正定型,无家系校正的标本应当用高分辨基因分型方法 进行核实,从而为临床移植提供准确的配型报告,以防止无关供-受者HSCT后因等位基因错配而引起的严重GVHD.  相似文献   

8.
目的探讨HLAⅡ类(-DRB1,-DQB1,-DPB1)等位基因及单体型多态性与北方汉族急性髓系白血病(acute myeloid leukemia, AML)的易感相关性。方法以824名正常非亲缘造血干细胞捐献者(2016年1月—2019年9月)为对照,应用聚合酶链反应-测序分型(PCR-SBT)、下一代测序(NGS-ION S5~(TM))技术、基于LABScan~? 3D平台的聚合酶链反应-序列特异寡核苷酸探针技术(PCR-SSO)等方法对308例AML(非M_3型)患者进行HLAⅡ类(-DRB1,-DQB1,-DPB1)基因高分辨分型,用Arlequin 3.5.2.2软件计算HLA基因频率和单体型频率,计算疾病优势比(odds ratio,OR)进行病例对照研究。结果经χ~2检验、连续校正显示非M_3型AML患者的HLA-DRB1~*07∶01(14.61%vs 9.53%,P0.01)、HLA-DQB1~*02∶02(12.82%vs 8.31%,P0.01)、HLA-DQB1~*06∶02(11.53%vs 8.74%,P0.05)和HLA-DPB1~*17∶01(5.84%vs 3.16%,P0.01)基因频率显著高于对照组,经Bonferroni校正后HLA-DRB1~*07∶01(Pc0.05)、HLA-DQB1~*02∶02(Pc0.05)和HLA-DPB1~*17∶01(Pc0.05)频率仍高于对照组,与AML呈强相关,OR分别为1.62(95%CI=1.23~2.14)、1.62(95%CI=1.21~2.18)和1.91(95%CI=1.23~2.94);AML患者的2座位单体型HLA-DRB1~*07∶01-DQB1~*02∶02频率经Bonferroni校正后仍高于对照组(12.66%vs 8.19%,Pc0.05);3座位单体型HLA-DRB1~*07∶01-DQB1~*02∶02-DPB1~*17∶01频率高于对照组,与AML呈强相关,是AML的易感单体型。结论本研究首次获得HLAⅡ(-DRB1,-DQB1,-DPB1)基因及单体型多态性与北方汉族AML相关性的资料,HLA-DRB1~*07∶01、HLA-DQB1~*02∶02、HLA-DPB1~*17∶01及单体型HLA-DRB1~*07∶01-DQB1~*02∶02-DPB1~*17∶01是北方汉族发生AML的风险基因及易感单体型,基于HLA单体型的风险预测可能比基于单个等位基因的风险计算更为精确。  相似文献   

9.
目的建立血小板捐献者HLA基因分型资料库,探讨HLA-A、B基因频率及单体型频率,为临床患者提供HLA匹配的血小板。方法应用聚合酶链反应-序列特异性引物方法和Luminex-SSO方法对730名沈阳地区血小板捐献者进行中低分辨率HLA-A、B基因分型,根据HLA表型群体资料,使用最大数学预期值算法(Expectation-Maximization,EM)计算HLA-A、B座位单体型频率。结果 HLA-A位点共检出15种等位基因,HLA-B位点共检出36种等位基因,单体型数222种。结论为向临床提供HLA匹配的血小板,各地区有必要建立血小板捐献者HLA基因分型资料库。  相似文献   

10.
目的 探讨广东籍鼻咽癌(nasopharyngeal carcinoma,NPC)患者的人类白细胞抗原(Human leukocyte antigen,HLA)-A、B和DRB1等位基因多态性与鼻咽癌之间关系.方法 采用聚合酶链反应测序分型法(polymerase chain reaction sequence-based typing,PCR-SBT),对35例广东籍NPC患者和119例健康对照的HLA-A、B、DRB1位点的等位基因进行序列分型及基因多态性分析.结果 HLA-A*26:01(0.0857 vs 0.0210,P<0.05,OR=4.72)、HLA-B*40∶01(0.2571 vs 0.1639,P<0.05,OR=2.17)和B*46∶01(0.2857 vs 0.1639,P<0.05,OR=2.74)基因频率在NPC组显著高于正常对照组.HLA-A*11∶01(0.2143 vs 0.3193,P<0.05,OR=0.42)和HLA-DRB1*03∶01(0 vs 0.0588,P<0.05,OR=0)基因频率在NPC组低于正常对照组.结论 HLA-A*26∶01,B*40∶01和B*46∶01等位基因可能与广东籍人群患NPC的机会呈正相关性,HLA-A*11∶01等位基因与NPC有负相关性.  相似文献   

11.
This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.  相似文献   

12.
目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高<20%视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P<0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P<0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P<0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.  相似文献   

13.
The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.  相似文献   

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Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.  相似文献   

16.
17.
Morphine, the most widely used mu-opioid analgesic for acute and chronic pain, is the standard against which new analgesics are measured. A thorough understanding of the pharmacokinetics of morphine is required in order to safely and effectively use this analgesic in a wide variety of patients with different levels of organ function. A MEDLINE search was conducted to identify literature published between 1966 and January 2002 relevant to the pharmacokinetics of morphine. These publications were reviewed and the literature summarized regarding unique and clinically important elements of morphine disposition relative to its parenteral administration (including intravenous, intramuscular, subcutaneous, epidural and intrathecal administration), absorption profile (immediate release, controlled release, and sublingual/buccal, and rectal administration), distribution, and its metabolism/ excretion. Special populations, including infants, elderly, and those with renal/liver failure, have a unique morphine pharmacokinetic profile that must be taken into account in order to maximize analgesic efficacy and reduce the risk of adverse events.  相似文献   

18.
目的 探讨手转胎头术失败的原因与分娩结局.方法 选择2008年1月至2010年12月于我院住院分娩的持续性枕横位、枕后位产妇198例,根据行手转胎头术后结果分为成功组126例、失败组72例.比较两组分娩结局,对比分析失败原因.结果 失败组胎儿体质量≥3500 g的发生率[76.4%(55/72)]明显高于成功组[31.7%(40/126)],差异有统计学意义(x2=30.177,P=0.001)、失败组宫缩乏力发生率[58.3%(42/72)]高于成功组[38.1% (48/126)],差异有统计学意义(x2=7.569,P=0.006)、失败组骨盆临界或轻度狭窄发生率[38.9% (28/72)]高于成功组[23.8%(30/126)],差异有统计学意义(x2 =5.030,P=0.002)、失败组手转胎头时机不当(宫口开大<6 cm、胎头位于坐骨棘上及宫口开大8~10 cm、胎头位于坐骨棘下≥2 cm)发生率[61.1%(44/72)]高于成功组[38.9%(49/126)],差异有统计学意义(x2=9.084,P=0.003).失败组母儿并发症(产后出血、产褥病率、胎儿窘迫、新生儿窒息)发生率高于成功组(x2 =9.586,P=0.002、x2=9.334,P=0.002、x2=5.910,P=0.015、x2=5.240,P=0.022)、失败组剖宫产发生率[72.2%(52/72)]明显高于成功组[34.1 %(43/126),x2=26.641,P=0.001)].结论 手转胎头术能使难产变顺产,降低剖宫产率,减少母儿并发症,但须积极预防、处理导致手转胎头术失败的原因,对矫正失败后继续矫正及试产应慎重.  相似文献   

19.
ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly. Issue 4 for 2009 contains 4027 complete reviews, 1906 protocols for reviews in production, and 11447 one-page summaries of systematic reviews published in the general medical literature. In addition, there are citations of 600,000 randomized controlled trials, and 12,200 cited papers in the Cochrane methodology register. The health technology assessment database contains over 7500 citations. This edition of the Library contains 90 new reviews, of which 19 have potential relevance for practitioners in pain and palliative medicine.  相似文献   

20.
ZusammenfassungFragestellung Es wurde geprüft, wie sich der Differenziertheitsgrad zweier Schmerzmessmethoden auf Angaben zur Ausgedehntheit klinischer Schmerzen auswirkt. Zugleich wurde der Referenzzeitraum variiert, über den die Patienten berichten sollten.Methode Erfasst wurde der Einfluss zu Lasten der Befragungsdifferenziertheit durch den Vergleich zweier Körperschema-Bildvorlagen. Drei Referenzzeiträume (Schmerz aktuell, letzte Woche, letztes halbes Jahr) wurden vorgegeben.Ergebnisse Patienten mit ausgedehnten Schmerzen gaben bei differenzierter Befragung um so mehr Schmerzen an, je weiter die Schmerzen zurück lagen und je größer der Berichtszeitraum war. Patienten mit gelenknahen Schmerzen gaben bei hoch differenzierter Befragung weniger ausgedehnte Schmerzen in der Vergangenheit an als bei globaler Einschätzung. Patienten mit Rückenschmerzen berichteten bei differenzierter Befragung zum aktuellen Schmerz über weniger ausgedehnte Schmerzen als bei globaler Befragung.Schlussfolgerung Die Angaben zur Schmerzausdehnung variieren vor allem bei Patienten mit ausgedehnten Schmerzen in Abhängigkeit von der Differenziertheit der Befragung. In diesen Fällen ist die Wahrscheinlichkeit erhöht, dass sich die Beschwerdesymptomatik zumindest teilweise erst in der Reaktion auf die situativen Befragungsbedingungen konstituiert und daher nicht auf andere Befragungsbedingungen generalisiert werden kann.  相似文献   

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