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1.
目的探讨雌激素受体α(ESRα)、维生素D受体(VDR)基因多态性与乳腺癌发病风险关系。方法选取189例乳腺癌患者和374名非癌女性对照人群为研究对象,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和测序检测ESRα基因rs2234693和rs9340799位点、VDR基因rs10735810位点的多态性。结果 ESRα基因rs9340799位点等位基因G在病例组的分布频率(15.08%)明显低于对照组(22.46%)(P=0.002),与等位基因A相比,经年龄校准的OR=0.580(95%CI=0.413~0.815);ESRα基因单体型CG在病例组的分布频率(13.7%)明显低于对照组(20.6%)(P=0.005),复合基因型CCGG在病例组的分布频率(1.59%)也明显低于对照组(5.61%)(P=0.025),其OR值分别为0.614(95%CI=0.436~0.864)和0.271(95%CI=0.080~0.921)。结论 ESRα基因rs9340799位点多态性与乳腺癌发病紧密相关,携带有等位基因G,单体型CG或复合基因型CCGG的个体患乳腺癌的风险较低。  相似文献   

2.
目的:探究雌激素受体1(ESR1)基因多态性与不明原因复发性自然流产(URSA)关系。方法:选取本院88例URSA患者为URSA组,70例正常者为对照组,采用聚合酶链式反应-限制性片段多态性法检测外周血ESR1基因rs22234693、rs9340799、rs2046210位点多态性,酶联免疫吸附法检测血清雌二醇(E2)水平,化学发光法检测促卵泡刺激素(FSH)水平;胶体金法检测血清促黄体生成素(LH)水平,Hardy-weinberg遗传平衡定律验证基因型频率;logistic回归分析ESR1基因型与URSA发生风险关系;分析各位点基因型与激素水平关系。结果:URSA组FSH水平高于对照组,E2、LH水平低于对照组(P<0.05)。两组ESR1基因rs22234693、rs9340799、rs2046210位点基因频率符合Hardy-Weinberg遗传平衡定律。rs22234693位点T等位基因频率、rs9340799位点G等位基因频率、rs2046210位点T等位基因频率均高于对照组(P<0.05)。rs22234693、rs9340799、rs2046210位点突变型者血清E2、LH水平低于对照组(P<0.05)。rs22234693 TT和TC基因携带者发生URSA风险的相对危险度分别为CC等位基因的1.756倍和2.432倍,rs9340799 GG、AG基因携带者的发生URSA风险的相对危险度分别为AA等位基因的1.237倍和1.746倍,rs2046210 TT和TC基因携带者的发生URSA风险的相对危险度分别为CC等位基因的1.354倍和1.824倍。结论:ESR1基因rs22234693、rs9340799、rs2046210位点多态性与URSA发生有关,rs22234693位点C→T突变、rs9340799 A→G突变、rs2046210 C→T突变可增加URSA的发病风险。  相似文献   

3.
目的 探讨被动吸烟、cyp1b1、gstp1、sult1a1基因多态性及其联合作用对乳腺癌发病的影响。方法 2014 - 2015年间,采用病例-对照研究方法,收集病例794例,对照805例。问卷调查收集研究对象信息。采用飞行质谱技术,进行cyp1b1、gstp1、sult1a1基因单核苷酸多态性分型检测。采用多因素非条件 logistic 回归,分析环境烟草烟雾暴露及cyp1b1、gstp1、sult1a1基因多态性与乳腺癌发病风险的关系。结果 调整年龄、教育程度、家庭年总收入、职业、婚姻状况后,环境烟草烟雾暴露与gstp1基因多态性未发现协同作用。以环境烟草烟雾低暴露且携带 cyp1b1 rs1056836 C等位基因为参照,环境烟草烟雾高暴露且携带 GG 基因在绝经前女性中乳腺癌风险明显增高(OR = 1.678,95%CI:1.039~2.711)。以环境烟草烟雾组合低暴露且携带sult1a1 rs9282861GG基因型为参照,环境烟草烟雾高暴露且携带A等位基因绝经前乳腺癌风险明显增高(OR = 2.389,95%CI:1.157~4.931),但交互作用系数无统计学意义。结论 环境烟草烟雾高暴露与cyp1b1 及sult1a1基因对乳腺癌发病风险可能存在协同作用,但尚扩大样本进行验证。  相似文献   

4.
目的探讨细胞色素氧化酶P450(CYP)1A1(rs4646903)和CYP1B1(rs1056836)基因单核苷酸多态性(SNPs)在乳腺癌患者中的分布情况及与临床病理的关系。方法对四川大学华西医院2012年9月至2016年2月期间收治的337例乳腺癌患者以及同期469名健康体检者进行病例对照研究,采用直接测序法分析乳腺癌患者CYP1A1(rs4646903)和CYP1B1(rs1056836)SNPs的分布情况,进一步分析不同基因型患者的临床病理特征差异。结果乳腺癌患者及健康体检者在CYP1A1(rs4646903)基因SNPs的分布上差异无统计学意义(x2=0.409,P〉0.05),CYP1B1(rs1056836)sNPs分布差异有统计学意义(x2=0.009,P〈0.01)。在337例乳腺癌病例中,CYP1A1(rs4646903)基因SNPs分布与肿瘤的临床病理特征无明显关系,CYP1B1(rs1056836)基因SNPs分布与淋巴结转移状态以及TNM分期有明显相关性(P〈0.05),纯合突变基因型(GG)淋巴结阴性率较高,TNM分期也较低。结论CYP1B1(m1056836)基因SNPs与乳腺癌的发病风险相关,在乳腺癌患者中,纯合突变患者腋窝淋巴结转移率较低,TNM分期也较低。  相似文献   

5.
目的分析CYP1B1、CYP3A4和CYP3A5基因多态性与急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)风险的相关性。方法选择2015年1月-2018年1月威海市立医院血液内科收治的ALL患者120例为病例组,同期选择健康人群120例为对照组,分别采集两组血液样本。采用焦磷酸测序基因分型技术对rs1056836、rs2740574和rs776746三个位点进行分型。应用SPSS 19.0软件统计候选基因多态性与ALL患病风险的相关性。结果三个候选SNP均符合Hardy-Weinberg平衡定律(P-HWE0.05)。病例组CYP1B1基因rs1056836位点和CYP3A4基因rs2740574位点的最小等位基因G频率显著高于对照组;而CYP3A5基因rs776746位点的最小等位基因A频率显著低于对照组(P0.05)。此外,病例组rs1056836位点的GC和GG基因型频率高于对照组,rs2740574位点的AG和GG基因型频率亦高于对照组,而rs776746位点的AG基因型频率低于对照组(P0.05)。遗传模型分析表明,rs1056836位点在显性、隐性、加性三个遗传模型下均与增加ALL风险具有相关性; rs2740574位点在显性和加性模型下与增加ALL风险具有相关性;而rs776746位点在显性模型下与降低ALL风险具有相关性(P0.05)。结论 CYP1B1基因rs1056836位点和CYP3A4基因rs2740574位点可能与增加ALL风险相关,而CYP3A5基因rs776746位点可能与降低ALL风险相关。  相似文献   

6.
目的探讨白细胞介素-4 (IL-4)启动子-589C/T和受体IL-4R (rs1801275)单核苷酸多态性与儿童支气管哮喘的相关性。方法检索CNKI期刊全文数据库、万方医学期刊数据库、维普医药信息资源系统、Pubmed、百度学术、谷歌学术关于IL-4-589C/T多态性和IL-4R (rs1801275)与儿童哮喘发病风险的相关对照研究,检索时限均为从建库至2019年1月。采用Rev Man 5.3软件进行Meta分析,计算合并OR值以及95%CI。结果 IL-4-589C/T纳入13个病例对照研究,哮喘患儿1 561例和对照组1 532例。Meta分析结果显示,5种遗传基因型CT+CC和TT、CC和CT+TT、CC和TT、TT和CT、C和T都可增加儿童支气管哮喘发病风险(CT+CC和TT:OR=1.66,95%CI 2.00~1.32,P0.01; CT+TT和CC:OR=3.8,95%CI 6.00~1.60,P0.01; CC和TT:OR=2.84,95%CI 3.22~2.46,P0.01; CC和CT:OR=5.42,95%CI 6.67~4.16,P0.01; CT和TT:OR=2.88,95%CI 2.11~3.64,P0.01; C和T:OR=14.27,95%CI 11.26~17.28,P0.01)。IL-4R (rs1801275)纳入11个病例对照研究,哮喘患儿1 928例和对照组1 414例。Meta分析结果显示3种遗传基因型AA和AG、AA和GG、A和G都可增加儿童支气管哮喘发病风险(AA和AG:OR=42.46,95%CI 42.58~42.35,P0.01; AA和GG:OR=25.94,95%CI 23.72~28.17,P0.01; A和G:OR=34.45,95%CI 32.25~36.65,P0.01)。结论 IL-4-589C/T和IL-4R (rs1801275)单核苷酸多态性与儿童支气管哮喘易感性存在相关性。  相似文献   

7.
目的通过对524例乳腺癌实验组和518例对照组的4个单核苷酸多态性位点进行基因型分型,探讨ATM基因多态性与乳腺癌发病风险的相关性。方法基于病例-对照组研究,通过对单个基因的分析、连锁分析和单倍型分析,用风险值(OR)和95%置信区间(CI)表示患病风险。结果 ATM基因中rs1890637、rs3092856及rs1801516的突变型等位基因频率显著高于对照组(P0.005);校正后,在加性模型下rs189037和rs1801516与乳腺癌发病呈显著相关(OR:分别为1.37和1.52,95%CI:1.10~1.71、1.14~2.04,P=0.005、0.005);在单倍型分析中,ATM基因的单倍型A-C-G-G (rs189037-rs3092856-rs1801516-rs373759)和A-C-A-A分别与乳腺癌患病风险增加1.98倍和6.04倍显著相关(95%CI:1.36~2.90、1.65~22.08)。结论研究结果表明ATM基因是汉族乳腺癌易感的候选基因。  相似文献   

8.
目的 探讨宿主JAK/STAT信号通路中关键分子基因多态性与肝细胞癌(HCC)易感性的关系.方法 采用病例对照研究,用质谱法对367例诊断明确的HBsAg阳性HCC患者(HCC组)和性别、年龄匹配的367例对照的IL-6(rs1800796,-572C>G)、STAT3 (rs744166,+26312T>C; rs3816769,+42240T>C; rs6503695,+40980T>C)、EGFR(rs11543848,+142530A>G)、mTOR(rs7211818,+170278A>G;rs9674559,+196983A>G;rs11653499,+65678G>A)进行多态性检测.单因素分析确定各位点多态性比值比(OR)和95%可信区间(CI).结果 IL-6、STAT3、EGFR、mTOR的8个多态性位点各基因型在HCC组和对照组中分布的差异无统计学意义(P>0.05).按性别分层后,在女性中,与TT基因型相比,携带STAT3 +26312CC、+42240CC、+40980CC基因型个体患HCC的危险性降低(OR=0.192,95%CI:0.047 ~ 0.784;OR=0.180,95%CI:0.045 ~ 0.725;OR=0.198,95%CI:0.049 ~ 0.806).与AA基因型相比,EGFR+142530(AG+GG)基因型降低女性患HCC的风险(OR=0.422,95%CI:0.179~ 0.994).结论 IL-6 (rs 1800796)、mTOR(rs7211818,rs9674559,rs11653499)多态性与HCC易感性无关;女性携带STAT3 (rs744166,rs3816769,rs6503695) CC基因型及EGFR(rs11543848) (AG+ GG)的个体患HCC的风险降低,但还需更大样本验证.  相似文献   

9.
目的 探讨儿茶酚 - O - 甲基转移酶(COMT) rs4680位点和多巴胺D2受体基因(DRD2)rs1800497位点与运动认知风险综合征(MCR)的关联。方法 选取如皋衰老队列1 301名观察对象,并分为MCR组和非MCR组。通过Taqman MGB对COMT rs4680位点、DRD2 rs1800497位点进行基因分型,比较MCR组和非MCR 组两位点的分布差异,并使用logistic回归分析估计位点对MCR的效应。结果 MCR组rs4680位点GA及AA基因型频率高于非MCR组(50% vs 40.3%,10.2% vs 6.2%,P = 0.023),MCR组A等位基因频率也高于非MCR组(35.2% vs 26.3%,P = 0.005)。Logistic分析显示A等位基因及GA/AA基因型与MCR风险增加相关(OR = 1.553,95%CI :1.131~2.133;OR = 1.742,95%CI :1.144~2.655)。校正年龄、性别、BMI、吸烟史、饮酒史、教育程度、高血压、糖尿病、CRP后显著性依然存在。然而我们未发现rs1800497与MCR相关。结论 COMT rs4680多态性与中国老年人群MCR发生风险相关,rs4680 A等位基因可能是MCR发生的遗传易感因子。  相似文献   

10.
唐昭    李炜  周伽    邓梦瑶    向俊    焦婷    杨梅   《现代预防医学》2020,(6):1124-1129
目的 评价CDKAL1基因rs7754840和rs7756992位点多态性与妊娠期糖尿病(GDM)的相关性。方法 检索PubMed、EBSCO、中国知网、万方数据库中CDKAL1基因rs7754840和rs7756992多态性与GDM相关性的研究,日期截至2019年10月。采用RevMan 5.3软件进行Meta分析。结果 共纳入9篇病例对照研究,包含病例3 115例,对照4 112例。Meta分析显示,CDKAL1基因rs7754840多态性与GDM有相关性(等位基因模型:OR = 1.19,95%CI:1.10~1.28,P<0.001;显性模型:OR = 1.26,95%CI:1.07~1.48,P = 0.006;隐性模型:OR = 1.26,95%CI:1.10~1.44,P = 0.0007),亚组分析中国人群rs7754840多态性与GDM有相关性(等位基因模型:OR = 1.15,95%CI:1.06~1.25,P = 0.0008;隐性模型:OR = 1.18,95%CI:1.01~1.36,P = 0.03)。CDKAL1基因rs7756992多态性与GDM无相关性(5个模型均P>0.05),中国人群也显示rs7756992位点多态性与GDM无相关性。结论 CDKAL1基因rs7754840位点多态性与GDM的发病风险有显著相关性,但未发现rs7756992位点多态性与GDM易感性有关。  相似文献   

11.
Medical journals and other sources do not show evidence that cholera occurred in Haiti before 2010, despite the devastating effect of this disease in the Caribbean region in the 19th century. Cholera occurred in Cuba in 1833-1834; in Jamaica, Cuba, Puerto Rico, St. Thomas, St. Lucia, St. Kitts, Nevis, Trinidad, the Bahamas, St. Vincent, Granada, Anguilla, St. John, Tortola, the Turks and Caicos, the Grenadines (Carriacou and Petite Martinique), and possibly Antigua in 1850-1856; and in Guadeloupe, Cuba, St. Thomas, the Dominican Republic, Dominica, Martinique, and Marie Galante in 1865-1872. Conditions associated with slavery and colonial military control were absent in independent Haiti. Clustered populations, regular influx of new persons, and close quarters of barracks living contributed to spread of cholera in other Caribbean locations. We provide historical accounts of the presence and spread of cholera epidemics in Caribbean islands.  相似文献   

12.
This is the seventh article in the series of Clinical Updates on Nursing Home Care. The topics covered are antiresorptive drugs, hip fracture, hypertension, orthostatic hypotension, depression, undernutrition, anorexia, cachexia, sarcopenia, exercise, pain, and behavioral and psychological symptoms of dementia.  相似文献   

13.
This article presents the results from a study of the comparison of 2 lowland rivers: the Olobok and the Pilawa in southwest Poland polluted by urban, agricultural, and textile industry sewages. pH and concentrations of Ca, Cd, Co, Cr, Cu, Fe, K, Mg, Mn, Ni, Pb, Zn, nitrate, nitrite, ammonia, phosphate, and sulfate were measured in water samples and concentrations of Ca, Cd, Co, Cr, Cu, Fe, K, Mg, Mn, N, Na, Ni, P, Pb, S, and Zn were measured in stream bottom sediments and in the aquatic macrophytes Elodea canadensis, Callitriche verna, Potamogeton crispus, Potamogeton natans, and Ceratophyllum demersum from the river Olobok and Elodea canadensis, Polygonum amphibium, Potamogeton crispus, and Veronica beccabunga from the river Pilawa. The matrix of concentrations of 16 elements in 27 plant samples of 7 species from 15 sampling sites of 2 rivers and concentrations of 15 elements and pH in water samples and 16 elements and pH in bottom sediment samples of these sites was submitted to numerical classification, which revealed that sampling sites from the rivers were differentiated by the value of factor 1 of principal component analysis (PCA), which was related to the pH of water, Ca, Cu, Mg, Mn, and Ni in water and Cd, Cr, Cu, Fe, K, Mg, Na, Ni, P, and S in bottom sediments. More polluted parts of both rivers were differentiated from less polluted parts by the value of factor 2 of PCA, which was related to Pb, Zn, and sulfates in water and Ca and Zn in bottom sediments. Macrophytes from the Olobok and Pilawa rivers were differentiated by the value of factor 1, which was related to Ca, Co, Cr, Cu, Fe, Mg, Ni, N, Na, Pb, and S. Groups of macrophytes of more and less polluted parts of both rivers differed by the value of factor 2, which was related to P, K, and Mn. Downstream of the sewage outputs in both rivers, a significantly increased level of pollution occurs with elements correlated with factor 1: Among others were Cu and Cr, typical for the textile industry along the river Pilawa, and among others were Mn and Ni, typical for the urban and agricultural activities in the river Olobok.  相似文献   

14.
The levels of many essential minerals decrease during pregnancy if un-supplemented, including calcium, iron, magnesium, selenium, zinc, and possibly chromium and iodine. Sub-optimal intake of minerals from preconception through pregnancy increases the risk of many pregnancy complications and infant health problems. In the U.S., dietary intake of minerals is often below the Recommended Dietary Allowance (RDA), especially for iodine and magnesium, and 28% of women develop iron deficiency anemia during their third trimester. The goal of this paper is to propose evidence-based recommendations for the optimal level of prenatal supplementation for each mineral for most women in the United States. Overall, the evidence suggests that optimal mineral supplementation can significantly reduce a wide range of pregnancy complications (including anemia, gestational hypertension, gestational diabetes, hyperthyroidism, miscarriage, and pre-eclampsia) and infant health problems (including anemia, asthma/wheeze, autism, cerebral palsy, hypothyroidism, intellectual disability, low birth weight, neural tube defects, preterm birth, rickets, and wheeze). An evaluation of 180 commercial prenatal supplements found that they varied widely in mineral content, often contained only a subset of essential minerals, and the levels were often below our recommendations. Therefore, there is a need to establish recommendations on the optimal level of mineral supplementation during pregnancy.  相似文献   

15.
《Vaccine》2018,36(4):427-437
On May 21st, 2015, the U.S. National Institute of Allergy and Infectious Diseases (NIAID) convened a workshop on delivery devices for nucleic acid (NA) as vaccines in order to review the landscape of past and future technologies for administering NA (e.g., DNA, RNA, etc.) as antigen into target tissues of animal models and humans. Its focus was on current and future applications for preventing and treating human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS) disease, among other infectious-disease priorities. Meeting participants presented the results and experience of representative clinical trials of NA vaccines using a variety of alternative delivery devices, as well as a broader group of methods studied in animal models and at bench top, to improve upon the performance and/or avoid the drawbacks of conventional needle-syringe (N–S) delivery. The subjects described and discussed included (1) delivery targeted into oral, cutaneous/intradermal, nasal, upper and lower respiratory, and intramuscular tissues; (2) devices and techniques for jet injection, solid, hollow, and dissolving microneedles, patches for topical passive diffusion or iontophoresis, electroporation, thermal microporation, nasal sprayers, aerosol upper-respiratory and pulmonary inhalation, stratum-corneum ablation by ultrasound, chemicals, and mechanical abrasion, and kinetic/ballistic delivery; (3) antigens, adjuvants, and carriers such as DNA, messenger RNA, synthesized plasmids, chemokines, wet and dry aerosols, and pollen-grain and microparticle vectors; and (4) the clinical experience and humoral, cellular, and cytokine immune responses observed for many of these target tissues, technologies, constructs, and carriers. This report summarizes the presentations and discussions from the workshop (https://web.archive.org/web/20160228112310/https://www.blsmeetings.net/NucleicAcidDeliveryDevices/), which was webcast live in its entirety and archived online (http://videocast.nih.gov/summary.asp?live=16059).  相似文献   

16.
A historical review was conducted to examine the advances made, nationally and internationally, in interdisciplinary health professional education since the mid-1960s. One hundred and nineteen articles were reviewed and divided by decade into the following subheadings: models, courses, communication/group process issues, and international perspectives. Twenty-seven articles, categorized as models, defined the conceptual field, described curriculum and program development, or provided a framework for evaluation.Thirty-two articles dealt with interdisciplinary courses, focusing on objectives, content areas, or innovative methods. Nine articles contributed contenton interdisciplinary communication and group process issues, from which guidelines were abstracted. Fifty-one articles contributed an international perspective, leading to the recognition that interdisciplinary health professional education, practice, and research is a global movement.This revised version was published online in October 2005 with corrections to the Cover Date.  相似文献   

17.
In August 2012, the Centers for Disease Control and Prevention, in partnership with the Association of Maternal and Child Health Programs, convened a meeting of national subject matter experts to review key clinical elements of anthrax prevention and treatment for pregnant, postpartum, and lactating (P/PP/L) women. National experts in infectious disease, obstetrics, maternal fetal medicine, neonatology, pediatrics, and pharmacy attended the meeting, as did representatives from professional organizations and national, federal, state, and local agencies. The meeting addressed general principles of prevention and treatment for P/PP/L women, vaccines, antimicrobial prophylaxis and treatment, clinical considerations and critical care issues, antitoxin, delivery concerns, infection control measures, and communication. The purpose of this meeting summary is to provide updated clinical information to health care providers and public health professionals caring for P/PP/L women in the setting of a bioterrorist event involving anthrax.  相似文献   

18.
Cholera outbreaks have occurred in Burundi, Rwanda, Democratic Republic of Congo, Tanzania, Uganda, and Kenya almost every year since 1977-1978, when the disease emerged in these countries. We used a multiscale, geographic information system-based approach to assess the link between cholera outbreaks, climate, and environmental variables. We performed time-series analyses and field investigations in the main affected areas. Results showed that cholera greatly increased during El Nino warm events (abnormally warm El Ninos) but decreased or remained stable between these events. Most epidemics occurred in a few hotspots in lakeside areas, where the weekly incidence of cholera varied by season, rainfall, fluctuations of plankton, and fishing activities. During lull periods, persistence of cholera was explained by outbreak dynamics, which suggested a metapopulation pattern, and by endemic foci around the lakes. These links between cholera outbreaks, climate, and lake environments need additional, multidisciplinary study.  相似文献   

19.
妊娠期糖尿病(GDM)为妊娠期特有疾病,易造成孕产妇难产、产褥期感染、酮症酸中毒,胎儿窘迫、胎儿畸形甚至胎死宫内等不良妊娠结局。妊娠期高血压疾病(HDP)包括妊娠期高血压、子痫前期(preeclampsia)、子痫,以及慢性高血压并发子痫前期和妊娠合并慢性高血压,临床表现为高血压、蛋白尿及水肿,严重影响孕妇体内各脏器功能,是孕产妇及围生儿死亡的主要原因。HDP中子痫前期,尤其是重度子痫前期,是造成新生儿不良妊娠结局的重要原因,通常需要及时剖宫产终止妊娠。近年国内外许多研究已经证实GDM和HDP在内皮功能紊乱、血脂异常、炎症因子、肾素-血管紧张素-醛固酮系统(RAAS)等多方面有相关性。现就两种疾病在上述相关性方面进行综述。  相似文献   

20.
Childhood obesity is a global public health concern. Previous research, mainly conducted in developed countries, suggests that marketing and media exposure is associated with unhealthy eating behaviors. This cross-sectional study was done with 2422 children, mean age 5.5 years, SD = .5, from six low- and middle-income counties (LMICs) (Brazil, China, India, Nigeria, Pakistan, and Russia). The analyses investigated media exposure, logo recognition, and preferences for international foods and beverages, such as globally distributed items like McDonald’s hamburgers and Coca-Cola soft drinks. Overall and in each country, path analysis models showed that media exposure and logo recognition directly and indirectly predicted the selection of international foods and beverages, controlling for child’s sex, age, home location, and parental education. Public health and communication experts must continue to investigate and understand these relationships, so as to inform regulations around food and beverage marketing.  相似文献   

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