1.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
2.Dihydroartemisinin enhances sensitivity of nasopharyngeal carcinoma HNE1/DDP cells to cisplatin-induced apoptosis by promoting ROS production
Xiaofan CONG ; Teng CHEN ; Shuo LI ; Yuanyuan WANG ; Longyun ZHOU ; Xiaolong LI ; Pei ZHANG ; Xiaojin SUN ; Surong ZHAO
Journal of Southern Medical University 2024;44(8):1553-1560
Objective To investigate the effect of dihydroartemisinin(DHA)for enhancing the inhibitory effect of cisplatin(DDP)on DDP-resistant nasopharyngeal carcinoma cell line HNE1/DDP and explore the mechanism.Methods CCK-8 method was used to assess the survival rate of HNE1/DDP cells treated with DHA(0,5,10,20,40,80,and 160 μmol/L)and DDP(0,4,8,16,32,64,128 μmol/L)for 24 or 48 h,and the combination index of DHA and DDP was calculated using Compusyn software.HNE1/DDP cells treated with DHA,DDP,or their combination for 24 h were examined for cell viability,proliferation and colony formation ability using CCK-8,EdU and colony-forming assays.Flow cytometry was used to detect cell apoptosis and intracellular reactive oxygen species(ROS).The expression levels of apoptosis-related proteins cleaved PARP,cleaved caspase-9 and cleaved caspase-3 were detected by Western blotting.The effects of N-acetyl-cysteine(a ROS inhibitor)on proliferation and apoptosis of HNE1/DDP cells with combined treatment with DHA and DDP were analyzed.Results Different concentrations of DHA and DDP alone both significantly inhibited the viability of HNE1/DDP cells.The combination index of DHA(5 μmol/L)combined with DDP(8,16,32,64,128 μmol/L)were all below 1.Compared with DHA or DDP alone,their combined treatment more potently decreased the cell viability,colony-forming ability and the number of EdU-positive cells,and significantly increased the apoptotic rate,intracellular ROS level,and the expression levels of cleaved PARP,cleaved caspase-9 and cleaved caspase-3 in HNE1/DDP cells.N-acetyl-cysteine pretreatment obviously attenuated the inhibitory effect on proliferation and apoptosis-inducing effect of DHA combined with DDP in HNE1/DDP cells(P<0.01).Conclusion DHA enhances the growth-inhibitory and apoptosis-inducing effect of DDP on HNE1/DDP cells possibly by promoting accumulation of intracellular ROS.
3.Clinical application evaluation of the fluorescence quantitative PCR melting curve method for detecting fungal nucleic acid
Ping NI ; Juan XU ; Haitao HU ; Hailin PENG ; Wang LI ; Chenglin ZHOU ; Surong DONG
Chinese Journal of Clinical Laboratory Science 2024;42(9):641-647
Objective To evaluate the accuracy and clinical application value of the fluorescence quantitative PCR melting curve meth-od for detecting fungal nucleic acid.Methods 460 suspected or confirmed patients with respiratory fungal infections were enrolled in the study.The fluorescence quantitative PCR melting curve method was used as the test method,and the fungal 26S rRNA gene nucleic acid detection kit combined with Sanger sequencing was used as the reference method.Sputum samples from each study subject were collected and detected by the test method and reference method,respectively.The Kappa value of the two methods was calculated to evaluate the consistency of the results.Results Compared with the reference method,the overall conformity rate of the test method was 92.83%(427/460).Compared with the reference method,the positive conformity rates,negative conformity rates,and overall conformity rates of the test method for detecting 8 fungi,including Candida albicans,Candida glabrata,Candida krusei,Candida trop-icalis,Candida parapsilosis,Cryptococcus neoformans,Candida guilliermondii,and Aspergillus,were 97.34%(183/188),97.06%(264/272),and 97.17%(447/460),100.00%(33/33),99.77%(426/427),and 99.78%(459/460),100.00%(16/16),99.55%(442/444),and 99.57%(458/460),98.11%(52/53),99.75%(442/444),and 99.57%(458/460),95.08%(58/61),99.50%(397/399),and 98.91%(455/460),100.00%(9/9),99.56%(449/451),and 99.57%(458/460),85.00%(17/20),99.32%(437/440),and 98.70%(454/460),and 97.59%(81/83),97.88%(369/377),and 97.83%(450/460),respectively.The Kappa values for the consistency evaluation of the two methods'detection results were both greater than 0.8.Upon retesting the inconsistent re-sults of the two methods,it was found that 53.7%(22/41)of the detection results were consistent with the test method,and the others were consistent with the reference method.Conclusion The fluorescence quantitative PCR melting curve method can simultaneously detect 8 kinds of fungi,and the detection results are highly consistent with the reference method.It has unique advantages in fungal de-tection and important clinical application value.
4.Dihydroartemisinin enhances sensitivity of nasopharyngeal carcinoma HNE1/DDP cells to cisplatin-induced apoptosis by promoting ROS production
Xiaofan CONG ; Teng CHEN ; Shuo LI ; Yuanyuan WANG ; Longyun ZHOU ; Xiaolong LI ; Pei ZHANG ; Xiaojin SUN ; Surong ZHAO
Journal of Southern Medical University 2024;44(8):1553-1560
Objective To investigate the effect of dihydroartemisinin(DHA)for enhancing the inhibitory effect of cisplatin(DDP)on DDP-resistant nasopharyngeal carcinoma cell line HNE1/DDP and explore the mechanism.Methods CCK-8 method was used to assess the survival rate of HNE1/DDP cells treated with DHA(0,5,10,20,40,80,and 160 μmol/L)and DDP(0,4,8,16,32,64,128 μmol/L)for 24 or 48 h,and the combination index of DHA and DDP was calculated using Compusyn software.HNE1/DDP cells treated with DHA,DDP,or their combination for 24 h were examined for cell viability,proliferation and colony formation ability using CCK-8,EdU and colony-forming assays.Flow cytometry was used to detect cell apoptosis and intracellular reactive oxygen species(ROS).The expression levels of apoptosis-related proteins cleaved PARP,cleaved caspase-9 and cleaved caspase-3 were detected by Western blotting.The effects of N-acetyl-cysteine(a ROS inhibitor)on proliferation and apoptosis of HNE1/DDP cells with combined treatment with DHA and DDP were analyzed.Results Different concentrations of DHA and DDP alone both significantly inhibited the viability of HNE1/DDP cells.The combination index of DHA(5 μmol/L)combined with DDP(8,16,32,64,128 μmol/L)were all below 1.Compared with DHA or DDP alone,their combined treatment more potently decreased the cell viability,colony-forming ability and the number of EdU-positive cells,and significantly increased the apoptotic rate,intracellular ROS level,and the expression levels of cleaved PARP,cleaved caspase-9 and cleaved caspase-3 in HNE1/DDP cells.N-acetyl-cysteine pretreatment obviously attenuated the inhibitory effect on proliferation and apoptosis-inducing effect of DHA combined with DDP in HNE1/DDP cells(P<0.01).Conclusion DHA enhances the growth-inhibitory and apoptosis-inducing effect of DDP on HNE1/DDP cells possibly by promoting accumulation of intracellular ROS.
5.Feasibility of deep learning for renal artery detection in laparoscopic video
Xin ZHAO ; Zhangcheng LIAO ; Xu WANG ; Lin MA ; Jingmin ZHOU ; Hua FAN ; Yushi ZHANG ; Weifeng XU ; Zhigang JI ; Hanzhong LI ; Surong HUA ; Jiayi LI ; Jiaquan ZHOU
Chinese Journal of Urology 2022;43(10):751-757
Objective:To explore the feasibility of deep learning technology for renal artery recognition in retroperitoneal laparoscopic renal surgery videos.Methods:From January 2020 to July 2021, the video data of 87 cases of laparoscopic retroperitoneal nephrectomy, including radical nephrectomy, partial nephrectomy, and hemiurorectomy, were retrospectively analyzed. Two urological surgeons screened video clips containing renal arteries. After frame extraction, annotation, review, and proofreading, the labeled targets were divided into training set and test set by the random number table in a ratio of 4∶1. The training set was used to train the neural network model. The test set was used to test the ability of the neural network to identify the renal artery in scenes with different difficulties, which was uniformly transmitted to the YOLOv3 convolutional neural network model for training. According to the opinion of two senior doctors, the test set was divided into high, medium, and low discrimination of renal artery and surrounding tissue. High identification means a clean renal artery and a large exposed area. For middle recognition degree, the renal artery had a certain degree of blood immersion, and the exposed area was medium. Low identification means that the exposed area of the renal artery was small, often located at the edge of the lens, and the blood immersion was severe, which may lead to lens blurring. In the surgical video, the annotator annotated the renal artery truth box frame by frame. After normalization and preprocessing, all images were input into the neural network model for training. The neural network output the renal artery prediction box, and if the overlap ratio (IOU) with the true value box was higher than the set threshold, it was judged that the prediction was correct. The neural network test results of the test set were recorded, and the sensitivity and accuracy were calculated according to IOU.Results:In the training set, 1 149 targets of 13 videos had high recognition degree, 1 891 targets of 17 videos had medium recognition degree, and 349 targets of 18 videos had low recognition degree. In the test set, 267 targets in 9 videos had high recognition degree, 519 targets in 11 videos had medium recognition degree, and 349 targets in 18 videos had low recognition degree. When the IOU threshold was 0.1, the sensitivity and accuracy were 52.78% and 82.50%, respectively. When the IOU threshold was 0.5, the sensitivity and accuracy were 37.80% and 59.10%, respectively. When the IOU threshold was 0.1, the sensitivity and accuracy of high, medium and low recognition groups were 89.14% and 87.82%, 45.86% and 78.03%, 32.95%, and 76.67%, respectively. The frame rate of the YOLOv3 algorithm in real-time surgery video was ≥15 frames/second. The false detection rate and missed detection rate of neural network for renal artery identification in laparoscopic renal surgery video were 47.22% and 17.49%, respectively (IOU=0.1). The leading causes of false detection were similar tissue and reflective light. The main reasons for missed detection were image blurring, blood dipping, dark light, fascia interference, or instrument occlusion, etc.Conclusions:Deep learning-based renal artery recognition technology is feasible. It may assist the surgeon in quickly identifying and protecting the renal artery during the operation and improving the safety of surgery.
6. The clinicopathologic features and prognostic analysis of pancreatic metastasis from clear cell renal cell carcinoma
Zhiyang ZHANG ; Xiaoyuan LI ; Chunmei BAI ; Yi ZHOU ; Xi WU ; Aiming YANG ; Surong HUA
Chinese Journal of Oncology 2020;42(1):44-49
Objective:
To investigate the clinicopathologic features and prognosis of the patients who had clear cell renal cell carcinoma (CCRCC) with metastasis to the pancreas.
Methods:
From Jan, 2000 to Dec, 2018, 18 patients with clear cell renal cell carcinoma (CCRCC) and had pathologically diagnosed metastasis to the pancreas were enrolled at Peking Union Medical College Hospital. The clinical and pathological data were retrospectively analyzed.
Results:
11 out of 18 patients were male, and the other 7 were female. The average age of onset of CCRCC was 51.4 years. 8 cases (44.4%) occurred in the left kidney, and the other 10 cases (55.6%) with right kidney tumor. Three patients had synchronous pancreatic metastasis, and the other 15 patients had metachronous pancreatic metastasis. The median time from CCRCC onset to pancreas metastasis was 156 months. The main complaints of pancreas metastasis were abdominal pain, jaundice, gastrointestinal bleeding, nausea, weakness, loss of weight and so on. Seven patients (38.9%) had single lesion of pancreas, while 11 patients (66.1%) had multiple lesions of pancreas. Nine patients (50%) had other organs metastasis besides pancreatic metastasis at the same time. Five patients underwent pancreatic metastasis resection, while 15 patients received oral tyrosine kinase inhibitor(TKI). The mean follow-up was 171.7 months(1~361.5 months) and 5 patients died. The median overall survival (mOS) was 122 months, and the 5 year-survival rate was 81.4%. In univariate analysis, synchronous metastasis to the pancreas, relapse after 10 years, Memorial Sloan Kettering Cancer Center prognostic index, International Metastatic Renal Cell Carcinoma Database Consortium index were all significant parameters for patients′survival.
Conclusions
Metastasis to the pancreas from clear cell renal cell carcinoma were rare. These patients had better survival outcomes, especially those relapsing after ten years. Pancreatic metastasis resection had no significant benefit on patient′s survival.
7.Clinical study of high dose hCG combined with psychological intervention in treatment of threatened abortion
Chinese Journal of Biochemical Pharmaceutics 2017;37(9):118-119
Objective To investigate and analyze the clinical efficacy of high dose hCG combined with psychological intervention in threatened abortion. Methods 50 patients with threatened abortion in our hospital from February 2015 to October 2016 were selected,and divided into study group and control group,25 cases in each groups. The study group for the first time the dosage of 10000U, after the dose to 5000U, use drug 2 times every week, and at the same time, the implementation of the corresponding psychological nursing intervention; patients in the control group for the first time the dosage was 2000U, after every day of medication 1 time, each time the dosage is still 2000U, to observe and compare the therapeutic effect. Results The patients in the study group, the success rate of pregnancy was significantly higher than the control group, while the patients in the study group, β -hCG and progesterone levels were significantly higher than those in the control group, while the study group after the nursing care of patients with anxiety and depression scores were significantly lower than the control group, the differences between the groups was obvious (P<0.05). Conclusion High dose hCG combined with psychological intervention in threatened abortion is more effective and effective in treatment of threatened abortion.
8.Clinical observation of levamlodipine combined with comprehensive psychological intervention in the treatment of hypertension with perimenopausal syndrome
Chinese Journal of Biochemical Pharmaceutics 2017;37(8):248-249,251
Objective To investigate the clinical effect of combined therapy of left and right amlodipine in the treatment of hypertension complicated with perimenopausal syndrome. Methods 50 patients with hypertension associated with peri menopausal syndrome in our hospital from January 2015 to January 2016 were selected,and according to the different treatment and nursing intervention divided into observation group and control group,25 cases in each groups. The control group with routine nursing intervention and benazepril treatment, observation group with amlodipine and comprehensive psychological nursing intervention treatment before and after treatment in two; blood pressure, luteinizing hormone (LH), serum follicle stimulating hormone (FSH), estrogen (E2) level and the changes of anxiety and depression (SAS) (SDS) were recorded in detail, and the relevant data for comparative analysis. Results Amlodipine+comprehensive psychological nursing intervention (observation group) of peri menopausal comprehensive clinical effect is better than that of benazepril+routine nursing intervention patients with hypertension treatment (control group) clinical efficacy, clinical symptoms improved better than the control group, the difference was statistically significant (P<0.05). Conclusion Hypertension patients with perimenopausal syndrome patients choose amlodipine + comprehensive psychological nursing intervention treatment effect significantly, can effectively improve the clinical symptoms and psychological state, and is worthy of clinical application.
9.Effects of LCL161, a Smac mimetic on the proliferation and apoptosis in hepatocellular carcinoma cells.
Kai REN ; Linyan MA ; Dianlong CHONG ; Zhirui ZHANG ; Can ZHOU ; Hao LIU ; Surong ZHAO
Journal of Central South University(Medical Sciences) 2016;41(9):898-904
OBJECTIVE:
To investigate the effects of LCL161, a Smac mimetic, on the proliferation and apoptosis in hepatocellular carcinoma cells and the underlying mechanisms.
METHODS:
The effect of LCL161 on the cell viability of HepG2 and SMMC7721 cells was measured by MTT assay. The effect of LCL161 at lower concentrations on the proliferation in hepatocellular carcinoma (HCC) cells was detected by colony formation assay. Apoptosis was assessed by flow cytometry with PI staining. The mitochondrial membrane potential was measured by JC-1 staining. The expression of PARP, p-Akt, cIAP1 and XIAP protein was analyzed by Western blot.
RESULTS:
LCL161 displayed notable antiproliferative activity on HCC cells at the concentrations of 1-16 μmol/L (P<0.01), with IC50 values of 4.3 and 4.9 μmol/L for HepG2 and SMMC7721 cells, respectively, after treatment for 48 h. LCL161 at lower concentrations obviously inhibited the colony formation of HCC cells. LCL161 induced significant apoptosis in HCC cells (P<0.01), and resulted in the apoptotic rate at (1.5±0.8)% or (1.8±0.6)% , (15.2±2.8)% or (12.2±2.4)%, (28.7±3.0)% or (22.4±2.7)%, (34.6±2.3)% or (30.2±2.4)% for HepG2 cells or SMMC7721 cells at the concentration of 0, 2, 4 or 8 μmol/L, respectively. The result of JC-1 staining indicated that the mitochondrial membrane potential of HCC cells was reduced by LCL161. In addition, LCL161 promoted the cleavage of PARP, down-regulated the protein expression of p-Akt, and degraded cIAP1.
CONCLUSION
LCL161 possesses significant anti-proliferative activity and pro-apoptotic action in HepG2 and SMMC7721 cells, which might be correlated with reduction in mitochondrial membrane potential, down-regulation of p-Akt and degradation of cIAP1.
Apoptosis
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drug effects
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Carcinoma, Hepatocellular
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drug therapy
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genetics
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pathology
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Cell Line, Tumor
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Cell Proliferation
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drug effects
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Cell Survival
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Down-Regulation
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Hep G2 Cells
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Humans
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Inhibitor of Apoptosis Proteins
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metabolism
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Liver Neoplasms
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Membrane Potential, Mitochondrial
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drug effects
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Proto-Oncogene Proteins c-akt
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genetics
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Thiazoles
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pharmacology
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Ubiquitin-Protein Ligases
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metabolism
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X-Linked Inhibitor of Apoptosis Protein
10.Clinical investigation and mutation analysis of ECM1 gene in a family with lipoid proteinosis
Dong GAO ; Peiwen LIAN ; Jian CHEN ; Xianying MA ; Surong ZHOU
Chinese Journal of Dermatology 2014;47(4):263-266
Objective To report a family with lipoid proteinosis (LP) from Shandong province and to analyze mutations in the extracellular matrix protein 1 (ECM1) gene in this family.Methods Eight members in a threegeneration family with LP were clinically investigated,and two patients were identified to suffer from LP,including the proband (Ⅲ 1) and her mother (Ⅱ 2).Both of the patients presented with papules on the palpebral margin,short and thick lingual frenum,and hoarseness.Indirect laryngoscopy showed infiltrating and thickening of the vocal cord.Pathological examination of lesions on the palpebral margin and laryngeal mucosa revealed deposits of hyaline-like material in the dermis,which was strongly positive for periodic acid-Schiff (PAS) staining and resistant to diastase digestion.The pathological diagnosis was LP.Blood samples were collected from all the family members and 100 ethnically matched,unrelated and unaffected Chinese human controls followed by DNA extraction.PCR and sequencing were performed to detect the ECM1 gene,and nested PCR followed by agarose gel electrophoresis to analyze mutations in the coding region of the ECM1 gene.Results Both of the two patients were compound heterozygotes.Three missense mutations,incluing p.P169T,p.A44T and p.R392W,were found in the ECM1 gene of the affected mother,with p.P169T in one allele and p.A44T as well as p.R392W in the other.The girl patient inheried the missence mutation p.P169T from her mother and a synonymous mutation c.879G > A from her father (Ⅱ 1).Nested PCR showed that the c.978G > A mutation generated a splice-acceptor site AG,which leaded to a splicing defect.Conclusion A novel synonymous splice-acceptor site mutation c.879G > A in the ECM1 gene is identified in the family with LP.

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