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41.
Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.  相似文献   
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He  Ningning  Rolls  Edmund T.  Zhao  Wei  Guo  Shuixia 《Brain imaging and behavior》2020,14(6):2148-2158
Brain Imaging and Behavior - The anatomical structure of the human brain varies widely, as does individual cognitive behavior. It is important and interesting to study the relationship between...  相似文献   
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The aim of the study was to explore the relationship between college graduates’ dual self-consciousness, job search clarity and perceived stress, and reveal the mediating role of perceived stress between dual self-consciousness and job search clarity. In this study, 467 college graduates were investigated using the Dual Self-Consciousness Scale, Job Search Clarity Scale, and Perceived Stress Scale. After controlling for gender, age, and region, the results revealed that: (1) private self-consciousness has a significant positive predictive effect on job search clarity; (2) perceived stress has a significant negative predictive effect on job search clarity; (3) perceived stress plays partial mediation effects between private self-consciousness and job search clarity; (4) perceived stress plays complete mediation effects between public self-consciousness and job search clarity; (5) perceived stress has suppressing effects between public self-consciousness and job search clarity.  相似文献   
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目的 了解复发型宫颈癌患者配偶预期性悲伤现状,分析其影响因素,为开展针对性心理干预提供参考。方法 采用预期性悲伤量表调查206名复发型宫颈癌患者配偶,结合一般资料问卷、中文版创伤后成长评定量表以及痛苦表露指数量表分析其影响因素。结果 复发型宫颈癌患者配偶的预期性悲伤得分为(89.87±12.78)分;回归分析结果显示,复发情况、无治疗间隔期、治疗方式、婚龄以及自我表露、创伤后成长影响配偶预期性悲伤水平(P<0.05,P<0.01)。结论 复发型宫颈癌患者配偶的预期性悲伤较严重,可通过提高自我表露和创伤后成长水平,改善配偶的预期性悲伤。  相似文献   
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目的:分析糖尿病视网膜病变合并黄斑水肿联合采用激光与复方血栓通胶囊治疗的临床疗效。方法:选取我院2017年1月—2019年1月收治的200例糖尿病视网膜病变合并黄斑水肿患者为研究对象,随机分为两组。对照组单独行激光治疗,观察组于对照组基础上联合复方血栓通胶囊治疗,对比两组临床疗效、治疗前后IL-6(白介素-6)、VEGF(血管内皮生长因子)、NOS(血清一氧化氮合成酶)水平变化情况。结果:对照组总有效率(68.00%,68/100)较观察组总有效率(98.00%,98/100)更高(P<0.05);与对照组对比,观察组治疗后NOS水平更高,IL-6、VEGF水平更低(P<0.05)。结论:糖尿病视网膜病变合并黄斑水肿联合采用激光与复方血栓通胶囊治疗的临床疗效显著,值得推广。  相似文献   
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Tumor metastasis is the dominant cause of death in colorectal cancer (CRC) patients, and it often involves dysregulation of various cytoskeletal proteins. Plastin 1 (PLS1) is an actin‐bundling protein that has been implicated in the structure of intestinal epithelial microvilli; however, its role in CRC metastasis has not yet been determined. In this study, we demonstrated that PLS1 is highly expressed in 33.3% (45/135) of CRC patients and is correlated with lymph node metastasis and poor survival. In in vitro and in vivo experiments, PLS1 induced the migration and invasion of CRC cells and the metastases to the liver and lung in mice. Moreover, the expressions of key factors for CRC metastases, matrix metalloproteinase (MMP) 9 and 2, were enhanced by PLS1, which was dependent on phosphorylating ERK1/2 activated by IQGAP1/Rac1 signaling. The connection between these signals and PLS1 was further confirmed in CRC tissues of patients and the metastatic nodules from a mouse model. These findings suggest that PLS1 promotes CRC metastasis through the IQGAP1/Rac1/ERK pathway. Targeting PLS1 may provide a potential approach to inhibit the metastasis of CRC cells.  相似文献   
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目的:采用HPLC-ELSD法分别建立南、北柴胡的指纹图谱,并进行真伪鉴别。方法:样品的甲醇提取液采用TOSOH TSKgel ODS-100V C18(4.6mm×15cm,5μm)色谱柱分析,乙腈-水梯度洗脱,流速:1.0 mL/min柱温:25℃,检测器为蒸发光散射检测器(ELSD)。并对结果进行相似度评价和主成分分析。结果:建立了含有11个共有峰的北柴胡HPLC-ELSD指纹图谱和含有14个共有峰的南柴胡HPLC-ELSD指纹图谱。伪品的相似度低,可以通过指纹图谱进行真伪鉴别。结论:该方法能快速可靠的鉴别和区分南、北柴胡,可以用于柴胡的质量控制。  相似文献   
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