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Analysis of cyclin E co-expression genes reveals nuclear transcription factor Y subunit alpha is an oncogene in gastric cancer

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Chronic Diseases and Translational Medicine 2019年第1期5卷 44-52页

作者： Liang-Yu Bie Dan Li Yu Mu sheng Wang Bei-Bei Chen Hui-Fang Lyu Li-Li Han Cai-Yun Nie Chang-Cheng Yang Lin Wang Chuan-Chuan Ren Wei-Jie Zhang Ping Guo Feng shi Qing-Xia Fan liu-xing Wang Xiao-Bing Chen su-Xia Luo department of Oncology Affiliated Cancer Hospital of Zhengzhou University/Henan Cancer Hospital Zhengzhou Henan 450008 China department of General surgery Affiliated Cancer Hospital of Zhengzhou University/Henan Cancer Hospital Zhengzhou Henan 450008 China department of Combined Traditional Chinese and Western Medicine Oncology Affiliated Cancer Hospital of Zhengzhou University/Henan Cancer Hospital Zhengzhou Henan 450008 China department of Radiation Oncology Zhengzhou People's Hospital Zhengzhou Henan 450008 China department of Urology First Affiliated Hospital of Zhengzhou University Zhengzhou Henan 450052 China department of Medical Oncology First Affiliated Hospital of Zhengzhou University Zhengzhou Henan 450052 China department of Oncology The First Affiliated Hospital of Nanyang Medical College Nanyang Henan 473000 China department of Thoracic surgery The First Affiliated Hospital of Nanyang Medical College Nanyang Henan 473000 China

Objective: To explore genes potentially co-expressed with cyclin E in gastric cancer and discover possible targets for gastric cancer treatment. Methods: The Cancer Genome Atlas (TCGA) stomach adenocarcinoma sequencing data were used to predict genes co-expressed with cyclin E. Co-expression genes predicted by cBioPortal online analysis with Pearson correlation coefficient ≥0.4 were analyzed by gene ontology (GO) enrichment annotation using the PANTHER online platform (Ver. 7). Interactions between proteins encoded by these genes were analyzed using the sTRING online platform (Ver. 10.5) and Cytoscape software (Ver. 3.5.1). Genes displaying a high degree of connection were analyzed by transcription factor enrichment prediction using FunRich software (Ver. 3). The significant transcription factor and cyclin E expression levels and their impact on gastric cancer progression were analyzed by Western blotting and Kaplan-Meier survival curve analysis. Results: After filtering the co-expression gene prediction results, 78 predicted genes that included 73 protein coding genes and 5 non-coding genes with Pearson correlation coefficient ≥0.4 were selected. The expressions of the genes were considered to be correlated with cyclin E expression. Among the 78 genes co-expressed with cyclin E, 19 genes at the central of the regulatory network associated with cyclin E were discovered. Nuclear transcription factor Y subunit alpha (NF-YA) was identified as a significant transcription factor associated with cyclin E co-expressing genes. Analysis of specimen donors’ clinical records revealed that high expression of NF-YA tended to be associated with increased cyclin E expression. The expression of both was associated with progression of gastric cancer. Western blotting results showed that compared with normal tissues, NF-YA and cyclin E were highly expressed in tumor tissues (P survival curve analysis clearly demonstrated relatively poor overall survival of gastric cancer pa

关键词： Cyclin E Nuclear transcription factor Y subunit alpha Oncogene Gastric cancer

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松龄血脉康胶囊治疗原发性高血压病有效性及安全性的系统评价

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中国中药杂志 2021年第2期46卷 467-477页

作者：樊根豪邢作英刘梦琳陈彦安宜沛陈召起王永霞河南中医药大学河南郑州450000 河南省人民医院中医科河南郑州450000

系统评价松龄血脉康胶囊联合常规西药治疗原发性高血压病的疗效及安全性。检索PubMed、维普、中国知网、万方等数据库自建库至2020年2月收录的关于松龄血脉康联合常规西药治疗原发性高血压病的临床随机对照试验,依据纳排标准筛选文献,利... 详细信息

系统评价松龄血脉康胶囊联合常规西药治疗原发性高血压病的疗效及安全性。检索PubMed、维普、中国知网、万方等数据库自建库至2020年2月收录的关于松龄血脉康联合常规西药治疗原发性高血压病的临床随机对照试验,依据纳排标准筛选文献,利用RevMan 5.3软件进行Meta分析。共纳入27项随机对照试验,合计3100例患者。Meta分析结果显示,松龄血脉康胶囊联合常规西药在降低收缩压(MD=-7.88,95%CI[-9.68,-6.08],P<0.00001)、舒张压(MD=-7.85,95%CI[-9.07,-6.62],P<0.00001)、甘油三酯(MD=-0.46,95%CI[-0.66,-0.26],P<0.00001)、总胆固醇(MD=-0.92,95%CI[-1.49,-0.35],P=0.001),提高高密度脂蛋白胆固醇(MD=0.51,95%CI[0.28,0.73],P<0.00001)方面均优于单纯西药组;而低密度脂蛋白胆固醇分析结果显示2组间无明显统计学差异(MD=-0.91,95%CI[-1.82,0.01],P=0.05),表明2组在降低低密度脂蛋白胆固醇方面作用相当。亚组分析结果提示,降低收缩压可能与使用血管紧张素Ⅱ受体拮抗剂(ARB)类药物关系密切,降低舒张压可能与钙拮抗剂(CCB)类药物关系密切。此外患者在依从性及不良反应发生率上,差异均无统计学意义,均未出现肝肾功能异常。临床应用松龄血脉康胶囊联合常规西药治疗原发性高血压病患者,疗效明确并且具有一定的安全性,今后需要更多的临床随机对照试验进行验证。

关键词：松龄血脉康胶囊原发性高血压病 Meta分析系统评价有效性安全性

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吉西他滨对人舌鳞癌Tca8113细胞的放射增敏作用及其机制研究

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中国现代医学杂志 2019年第14期29卷 13-17页

作者：刘星验张斌马竟陈健锦州医科大学附属第一医院口腔颌面外科辽宁锦州121000 葫芦岛市第二人民医院辽宁葫芦岛125000

目的研究吉西他滨(GEM)对人舌鳞癌Tca8113细胞的放射增敏作用及其相关机制。方法用不同浓度GEM处理人舌鳞癌Tca8113细胞24 h,测定细胞存活率并确定后续实验浓度。对Tca8113细胞进行单独放疗或联合GEM处理,MTT法测定细胞存活率;平板克隆... 详细信息

目的研究吉西他滨(GEM)对人舌鳞癌Tca8113细胞的放射增敏作用及其相关机制。方法用不同浓度GEM处理人舌鳞癌Tca8113细胞24 h,测定细胞存活率并确定后续实验浓度。对Tca8113细胞进行单独放疗或联合GEM处理,MTT法测定细胞存活率;平板克隆形成实验研究各组细胞集落形成的能力;流式细胞术验证Tca8113细胞对放射的敏感性变化。Western blotting检测Bcl-2、Bax、 Cleaved Caspase-3及Cleaved Caspase-9蛋白的表达。结果不同浓度GEM作用时的细胞存活率比较,经方差分析,差异有统计学意义(Pspase-3及Cleaved Caspase-9蛋白表达水平高于其他组(P<0.05);而Bcl-2蛋白表达则低于其他各组(P<0.05)。结论 GEM对舌鳞癌Tca8113细胞的增殖有抑制作用,联合放射治疗能有效提高放射敏感性;两者可能具有协同抗肿瘤作用。

关键词：舌肿瘤细胞系,肿瘤放射疗法

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美沙拉嗪联合酪酸梭菌对溃疡性结肠炎大鼠治疗作用及机制研究

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延安大学学报（医学科学版） 2019年第1期17卷 5-8页

作者：王星星贺沁赵婕李蕊刘昕张明亮山西医科大学汾阳学院医学检验系山西汾阳032200 晋城市人民医院检验科山西晋城048026 郑州大学第一附属医院检验科河南郑州450052 天津金域检验有限公司实验诊断室天津300000

目的研究美沙拉嗪联合酪酸梭菌对溃疡性结肠炎模型大鼠的治疗作用,并探讨其可能的作用机制。方法采用2,4,6-三硝基苯磺酸(TNBs)复合50%乙醇溶液对大鼠通过免疫化学法造模,将50只雄性大鼠随机分为五个组:对照组、模型对照组、美沙拉嗪组... 详细信息

目的研究美沙拉嗪联合酪酸梭菌对溃疡性结肠炎模型大鼠的治疗作用,并探讨其可能的作用机制。方法采用2,4,6-三硝基苯磺酸(TNBs)复合50%乙醇溶液对大鼠通过免疫化学法造模,将50只雄性大鼠随机分为五个组:对照组、模型对照组、美沙拉嗪组、酪酸梭菌组和美沙拉嗪和酪酸梭菌联合治疗组,每组10只。用酶联免疫吸附试验检测各组大鼠血清中炎性因子即IL-4、IL-6的含量。结果模型对照组与对照组比较,IL-4水平明显降低(P <0. 01),IL-6水平明显升高(P <0. 01)。活动期至缓解期美沙拉嗪组、酪酸梭菌组以及联合治疗组与模型对照组比较,IL-4水平显著升高,IL-6的水平显著下降,且差异均有统计学意义(P <0. 01)。而联合治疗组分别与美沙拉嗪组和酪酸梭菌组比较,血清IL-4和IL-6水平变化,有显著差异(P <0. 01)。结论美沙拉嗪和酪酸梭菌对溃疡性结肠炎都有显著的治疗效果,而联合治疗组效果更好,其作用机制可能与降低血清中IL-6的水平,升高血清IL-4的水平有关。

关键词：溃疡性结肠炎美沙拉嗪酪酸梭菌 IL-4 IL-6

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肺癌化疗患者经外周静脉置入中心静脉导管感染的相关危险因素分析

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国际医药卫生导报 2019年第22期25卷 3744-3746页

作者：张莎莎单国用刘兴安郑州人民医院放疗科 450000

目的研究肺癌化疗患者经外周静脉置入中心静脉导管(PICC)发生感染的相关危险因素。方法回顾性分析本院2015年2月至2018年10月收治的285例肺癌化疗PICC患者的病历资料,记录患者在PICC期间发生感染的情况,同时分析感染发生的相关危险因素... 详细信息

目的研究肺癌化疗患者经外周静脉置入中心静脉导管(PICC)发生感染的相关危险因素。方法回顾性分析本院2015年2月至2018年10月收治的285例肺癌化疗PICC患者的病历资料,记录患者在PICC期间发生感染的情况,同时分析感染发生的相关危险因素。结果285例患者中发生PICC感染33例,感染率为11.58%;夏季置管、置管人员工作时间<5年、置管次数≥2次、导管留置时间≥30天、糖尿病史是PICC感染的独立危险因素(P<0.05)。结论夏季置管、置管人员工作时间<5年、置管次数≥2次、导管留置时间≥30天、糖尿病史是肺癌化疗患者PICC感染的独立危险因素。

关键词：肺癌化疗经外周静脉置入中心静脉导管危险因素感染

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Efficacy and safety of LY01005 versus goserelin implant in Chinese patients with prostate cancer: A multicenter, randomized, open-label, phase III, non-inferiority trial

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Chinese Medical Journal 2023年第10期136卷 1207-1215页

作者： Chengyuan Gu Zengjun Wang Tianxin Lin Zhiyu liu Weiqing Han Xuhui Zhang Chao Liang Hao liu Yang Yu Zhenzhou Xu shuang liu Jingen Wang Linghua Jia Xin Yao Wenfeng Liao Cheng Fu Zhaohui Tan Guohua He Guoxi Zhu Rui Fan Wenzeng Yang Xin Chen Zhizhong liu Liqiang Zhong Benkang shi Degang Ding shubo Chen Junli Wei Xudong Yao Ming Chen Zhanpeng Lu Qun Xie Zhiquan Hu Yinhuai Wang Hongqian Guo Tiwu Fan Zhaozhao Liang Peng Chen Wei Wang Tao Xu Chunsheng Li Jinchun xing Hong Liao Dalin He Zhibin Wu Jiandi Yu Zhongwen Feng Mengxiang Yang Qifeng Dou Quan Zeng Yuanwei Li Xin Gou Guangchen Zhou Xiaofeng Wang Rujian Zhu Zhonghua Zhang Bo Zhang Wanlong Tan Xueling Qu Hongliang sun Tianyi Gan Dingwei Ye department of Urology Fudan University Shanghai Cancer CenterShanghai 200032China department of Oncology Shanghai Medical CollegeFudan UniversityShanghai 200032China department of Urology The First Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210029China department of Urology Sun Yat-sen Memorial HospitalSun Yat-sen UniversityGuangzhouGuangdong 510120China department of Urology The Second Affiliated Hospital of Dalian Medical UniversityDalianLiaoning 116023China department of Urology The Affiliated Cancer Hospital of Xiangya School of MedicineCentral South UniversityHunan Cancer CenterChangshaHunan 410013China department of Urology First Hospital of Shanxi Medical UniversityTaiyuanShanxi 030000China department of Urology Jiangxi Provincial People’s HospitalSchool of MedicineNanchang UniversityNanchangJiangxi 330006China department of Urology Tianjin Medical University Cancer Institute and HospitalTianjin 300060China department of Urology Cancer Hospital of China Medical UniversityLiaoning Cancer Hospital and InstituteShenyangLiaoning 110043China department of Urology Inner Mongolia People’s HospitalHohhotInner Mongolia 010010China department of Urinary surgery Taizhou Hospital of Traditional Chinese MedicineTaizhouJiangsu 225300China department of Urology Linfen People’s HospitalLinfenShanxi 041000China department of Urology Zhengzhou Central Hospital Affiliated to Zhengzhou UniversityZhengzhouHenan 450006China department of Urology The Affiliated Hospital of Hebei UniversityBaodingHebei 071000China department of Urology Chifeng Municipal HospitalChifeng Clinical Medical College of Inner Mongolia Medical UniversityChifengInner Mongolia 024000China department of Urology Baogang HospitalBaotouInner Mongolia 014010China department of Oncology The Second People’s Hospital of YibinYibinSichuan 644000China department of Urology Qilu Hospital of Shandong UniversityJinanShandong 250014China department of Urology Henan Provincial People’s Hos

Background:LY01005(Goserelin acetate sustained-release microsphere injection)is a modified gonadotropin-releasing hormone(GnRH)agonist injected *** phase III trial study aimed to evaluated the efficacy and safety of LY01005 in Chinese patients with prostate ***:We conducted a randomized controlled,open-label,non-inferiority trial across 49 sites in *** study included 290 patients with prostate cancer who received either LY01005 or goserelin implants every 28 days for three *** primary efficacy endpoints were the percentage of patients with testosterone suppression≤50 ng/dL at day 29 and the cumulative probability of testosterone≤50 ng/dL from day 29 to ***-inferiority was prespecified at a margin of-10%.secondary endpoints included significant castration(≤20 ng/dL),testosterone surge within 72 h following repeated dosing,and changes in luteinizing hormone,follicle-stimulating hormone,and prostate specific antigen ***:On day 29,in the LY01005 and goserelin implant groups,testosterone concentrations fell below medical-castration levels in 99.3%(142/143)and 100%(140/140)of patients,respectively,with a difference of-0.7%(95%confidence interval[CI],-3.9%to 2.0%)between the two *** cumulative probabilities of maintaining castration from days 29 to 85 were 99.3%and 97.8%,respectively,with a between-group difference of 1.5%(95%CI,-1.3%to 4.4%).Both results met the criterion for *** endpoints were similar between *** treatments were ***01005 was associated with fewer injection-site reactions than the goserelin implant(0%vs.1.4%[2/145]).Conclusion:LY01005 is as effective as goserelin implants in reducing testosterone to castration levels,with a similar safety *** registration:***,NCT04563936.

关键词： Prostatic neoplasms LY01005 Gonadotropin-releasing hormone agonist Efficacy safety

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Qualitative study of poor intestinal preparation compliance before colonoscopy in elderly patients

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TMR Integrative Nursing 2020年第4期4卷 118-124页

作者： Liang Rong Zhi-Lan Yang Xue Zhou Ji-Feng Miao Xiao-Fen Xie Li-Ping liu Ming-xing liu Juan Wang Nursing College Shanxi Energy Vocational and Technical CollegeShanxiChina school of Nursing Shanxi University of Traditional Chinese MedicineShanxiChina school of Nursing Fenyang CollegeShanxi Medical UniversityShanxiChina The sales department of Zhengda Tianqing Pharmaceutical Group JiangsuChina department of Gastroenterology Shanxi People's HospitalShanxiChina Endoscopic Center of shanxi Provincial people's hospital ShanxiChina department of Gynecology East Districtthe First Affiliated Hospital of Zhengzhou UniversityHenanChina

Objective:To explore the influencing factors and psychological experience of poor compliance in intestinal preparation before colonoscopy in elderly patients,so as to provide more comprehensive reference for the implementation of targeted nursing intervention measures in the future and to improve the quality of intestinal preparation before colonoscopy in elderly ***:According to the phenomenological research method in the qualitative research,a purposeful sampling selected 11 nursing staff from a digestive endoscopy center of a comprehensive tertiary Class A hospital in shanxi province as a research object for a semi-structured *** sampling selected semi-structured interviews with 13 elderly patients who underwent colonoscopy in a comprehensive tertiary Class A hospital in shanxi province from July to september 2018 for colonoscopy but had poor bowel preparation *** Phenomenological research methods conduct inductive analysis of ***:Through semi-structured interview,the influencing factors of poor compliance of intestinal preparation before colonoscopy in elderly patients were summarized as follows:①nursing staff ignored the individualized education of patients;②in the process of intestinal preparation,elderly patients have insufficient understanding of intestinal preparation,insufficient attention,forgetting the contents of intestinal preparation,intolerance in the process of intestinal preparation,lack of encouragement and professional guidance,***:In clinical practice,medical staff should strengthen the individualized education of patients undergoing colonoscopy,guide them to correctly understand the intestinal preparation process and understand the importance of intestinal preparation,actively explore more convenient intestinal preparation methods,and actively play the positive role of family members in intestinal preparation of elderly patients.

关键词： Colonoscopy Intestinal preparation Elderly patients Qualitative study

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Epidemiological characteristics and clinical manifestations of pediatric patients with COVID-19 in china: A multicenter retrospective study

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Pediatric Investigation 2021年第3期5卷 203-210页

作者： Yan Bai Liwei Gao Xianfeng Wang Lili Zhong Jingfeng Li shenggang Ding Yuejie Zheng Jun liu Yuxia Cui Lina Wang Mingfeng Han Jun liu Xinping Jiang Min Jiang Junhua Li Ning Chen Yunxiao shang Hourong Zhou Yi Xu Gen Lu xing Chen Jizhi Xu Qihong Fan Yu Tang Jiang Wu Cen Li Xiaoxiang Yang Chunxi Chen Yonghong Yang Gary Wing-Kin Wong Adong shen Tianyou Wang Runming Jin Baoping Xu Kunling shen Pediatric department Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyHubeiChina china National Clinical Research Center for Respiratory Diseases Department of Respiratory MedicineBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina department of Pediatrics Shenzhen Third People’s HospitalSecond Affiliated Hospital of Southern University of Science and TechnologyShenzhenChina Children’s medical center of Hunan Provincial people’s hospital HunanChina Taihe hospital ShiyanHubeiChina department of Pediatrics the First Affiliated Hospital of Anhui Medical UniversityHefeiAnhuiChina department of Respiratory Medicine Shenzhen Children’s HospitalShenzhenChina department of Pediatrics Guizhou Provincial People’s HospitalGuizhouChina department of Respiratory medicine The Second People’s Hospital of FuyangAnhuiChina department of Pediatrics the People Hospital of BozhouAnhuiChina Loudi Central hospital Loudi CityHunanChina department of Pediatrics the First Affiliated Hospital of Guangxi Medical UniversityNanningGuangxiChina department of Pediatrics Xiangyang Central HospitalXiangyangHubeiChina department of Pediatric Shengjing Hospital of China Medical UniversityLiaoningChina department of General Practice Guizhou Provincial People’s HospitalOffice of Academic ResearchJiangjunshan HospitalGuiyangGuizhouChina department of Pediatric Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangzhouChina department of Pediatrics Shangdong Provincial Hospital Affiliated to Shandong First Medical UniversityShangdongChina Changsha Maternal and Child Health hospital ChangshaHunanChina department of Pediatrics Jingzhou First People’s HospitalJingzhouHubeiChina Children’s hospital Affiliated to zhengzhou University ZhengzhouHenanChina Huangshi Maternity and Child Health Care hospital HuangshiHubeiChina Guizhou Provincial people’s hospital GuizhouChina department of Pediatrics t

Importance:The Coronavirus disease 2019(COVID-19)global pandemic poses a considerable challenge for ***:This study aimed to identify the epidemiological characteristics and clinical features of pediatric patients with COVID-19 in ***:This multicenter retrospective study included pediatric patients from 46 hospitals in china,covering 12 provinces and two ***,demographic,clinical,laboratory,treatment,and outcome data were ***:In total,211 pediatric patients with COVID-19 were included in this *** median age was 7.0 years(range:22 days to 18 years).Approximately 16.3%of the patients exhibited asymptomatic infections,23.0%had upper respiratory tract infections,and 60.7%had pneumonia,including two with severe pneumonia and one with critical *** 78.7%of the pediatric patients occurred in familial *** most three common symptoms or signs at onset in children with COVID-19 were fever(54.5%),cough(49.3%),and pharyngeal congestion(20.8%).Only 17.6%of the patients presented with decreased lymphocyte count,whereas 13.6%had increased lymphocyte *** the patients with pneumonia who exhibited abnormal chest computed tomography findings,18.2%(23/127)of the patients had no other ***,the chest radiographs showed abnormalities that affected both lungs(49.6%);ground-glass opacity(47.2%)was the most common *** cure and improvement rates were 86.7%(183/211)and 13.3%(28/211),*** one patient with an underlying condition received invasive mechanical ventilation;none of the patients ***:similar to adults,children of all age groups are susceptible to ***,most pediatric patients have mild symptoms or remain asymptomatic,despite the high incidence of *** proportions of white blood cells and lymphocytes are less frequent in children than in adults.

关键词： COVID-19 sARs-CoV-2 Children

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经肛吻合器直肠黏膜环切术治疗直肠前突的临床效果评估

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中国肛肠病杂志 2019年第8期39卷 48-49页

作者：刘永兴刘小文王大琤胡斌段庆郑州市第二人民医院肛肠外科河南郑州450000 郑州煤炭工业(集团)有限责任公司总医院消化内科河南郑州450000

为探讨经肛吻合器直肠黏膜环切术治疗直肠前突的临床效果,选择2016年8月至2018年4月郑州市第二人民医院肛肠外科收治的96例直肠前突患者,随机分为观察组和对照组,各48例,观察组行经肛吻合器直肠黏膜环切术治疗,对照组行经直肠闭式修补... 详细信息

为探讨经肛吻合器直肠黏膜环切术治疗直肠前突的临床效果,选择2016年8月至2018年4月郑州市第二人民医院肛肠外科收治的96例直肠前突患者,随机分为观察组和对照组,各48例,观察组行经肛吻合器直肠黏膜环切术治疗,对照组行经直肠闭式修补术治疗,比较2组临床疗效、手术情况及术后并发症。结果显示,与对照组相比,观察组术中出血更少,手术时间和住院时间更短,总有效率更高,术后并发症发生率更低,P <0.05。结果表明,与经直肠闭式修补术相比,经肛吻合器直肠黏膜环切术治疗直肠前突临床效果更好。

关键词：直肠前突经肛吻合器直肠黏膜环切术经直肠闭式修补术效果

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假性甲状旁腺功能减退症一个家系GNAs基因的变异分析

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中华医学遗传学杂志 2023年第1期40卷 31-35页

作者：李茜黄佳代兴何嘉欢李聪敏王悦刘红彦郑州大学人民医院河南省人民医院医学遗传研究所郑州450003 河南省人民医院妇科郑州450003 驻马店市平舆县人民医院儿童康复科驻马店463499

目的探讨1个假性甲状旁腺功能减退症家系的遗传学病因。方法选取2020年12月26日于河南省人民医院就诊的1个假性甲状旁腺功能减退症家系为研究对象。采用家系全外显子组测序(trio-WEs)对先证者及其父母进行分析,筛选候选变异。随机选取5... 详细信息

目的探讨1个假性甲状旁腺功能减退症家系的遗传学病因。方法选取2020年12月26日于河南省人民医院就诊的1个假性甲状旁腺功能减退症家系为研究对象。采用家系全外显子组测序(trio-WEs)对先证者及其父母进行分析,筛选候选变异。随机选取50名健康个体进行限制性片段长度多态性检测,以排除基因位点多态性。采用短串联重复序列(sTR)连锁分析确定致病变异的亲代来源。结果Trio-WEs及sanger测序结果显示先证者及母亲均携带GNAs基因c.121C>G(***41Asp)变异,家系其余成员及健康对照人群均未发现相同变异,检索数据库未见收录。依据美国医学遗传学与基因组学学会相关指南判断为可能致病变异。结论GNAs基因c.121C>G(***41Asp)变异可能是该家系的遗传学病因。上述发现丰富了GNAs基因的变异谱。

关键词：假性甲状旁腺功能减退症 GNAs基因全外显子组测序短串联重复序列连锁分析

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