1.The value of immune inflammatory index in predicting the therapeutic efficacy of neoadju-vant chemoradiotherapy for esophageal squamous cell carcinoma
Guangyi LIN ; Weicheng LIANG ; Han TANG ; Lijie TAN
Chinese Journal of Digestive Surgery 2023;22(3):363-370
Objective:To investigate the value of immune inflammatory index in predic-ting the therapeutic efficacy of neoadjuvant chemoradiotherapy for esophageal squamous cell carci-noma (ESCC).Methods:The retrospective case-control study was conducted. The clinicopatholo-gical data of 163 patients with ESCC who were admitted to Zhongshan Hospital of Fudan University from December 2015 to December 2020 were collected. There were 135 males and 28 females, aged (62±8)years. All 163 patients underwent neoadjuvant chemoradiotherapy and radical resection for ESCC. Observation indicators: (1) relationship between immune inflammatory index and clinical characteristic in patients; (2) relationship between immune inflammatory index and efficacy of neoadjuvant chemoradiotherapy in patients; (3) influencing factor analysis for pathologic complete response and good response of tumor regression grade after neoadjuvant chemoradiotherapy; (4) efficiency of immune inflammatory index in predicting efficacy of neoadjuvant chemoradiotherapy. Measurement data with normal distribution were represented as Mean± SD. Count data were described as absolute numbers, and comparison between groups was conducted using chi-square test. Comparison of ordinal data was conducted using the rank sum test. The receiver operating characteristic (ROC) curve was used to determine the optimal cut-off value. Univariate and multi-variate analyses were conducted using the Logistic regression model. The area under the curve (AUC) of ROC curve was used to evaluate the efficiency of predictive model. Results:(1) Relationship between immune inflammatory index and clinical characteristic in patients. ① Optimal cut-off value of systemic immune-inflammation index (SII), neutrophil-lymphocyte ratio (NLR), platelet-lympho-cyte ratio (PLR). Results of ROC curve analysis showed that the AUC of SII, NLR, PLR in predicting efficacy of neoadjuvant chemoradiotherapy for patients with ESCC was 0.70(95% confidence interval as 0.61?0.77), 0.78(95% confidence interval as 0.69?0.84), 0.79(95% confidence interval as 0.70?0.85), respectively, with the maximum value of Youden index and the optimal cut-off value as 0.25, 0.32, 0.52 and 446×10 9/L, 2.09, 138. ② Relationship between SII, NLR, PLR and clinical charac-teristic in patients. According to the optimal cut-off value of SII, NLR, PLR, all 163 patients were divided into cases with SII <446×10 9/L as 99, cases with SII ≥446×10 9/L as 64, cases with NLR <2.09 as 107, cases with NLR ≥2.09 as 56, cases with PLR<138 as 88, cases with PLR ≥138 as 75, respectively. There was a significant difference in clinical N staging of tumor in patients with SII <446×10 9/L and SII ≥446×10 9/L ( P<0.05). There were significant differences in clinical N staging and clinical TNM staging of tumor in patients with NLR<2.09 and NLR≥2.09 ( P<0.05). (2) Relationship between immune inflammatory index and efficacy of neoadjuvant chemoradiotherapy in patients. Of 163 patients undergoing neoadjuvant chemoradiotherapy, there were 54 cases with pathologic complete response and 109 cases without pathologic complete response, 94 cases with good response of tumor regression grade and 69 cases with poor response of tumor regression grade. Of the 54 patients with pathologic complete response, cases with SII <446×10 9/L and SII ≥446×10 9/L, cases with NLR <2.09 and NLR ≥2.09, cases with PLR <138 and PLR ≥138 before neoadjuvant chemoradiotherapy were 42 and 12, 47 and 7, 48 and 6, respectively. The above indicators were 57 and 52, 60 and 49, 40 and 69 in the 109 cases without pathologic complete response. There were significant differences in the above indicators between patients with pathologic complete response and without pathologic complete response ( χ2=9.83, 16.39, 39.60, P<0.05). Of the 94 cases with good response of tumor regression grade, cases with SII <446×10 9/L and SII ≥446×10 9/L, cases with NLR <2.09 and NLR ≥2.09, cases with PLR <138 and PLR ≥138 before neoadjuvant chemoradiotherapy were 59 and 35, 78 and 16, 56 and 38, respectively. The above indicators were 40 and 29, 29 and 40, 32 and 37 in the 69 cases with poor response of tumor regression grade. There was no significant difference in the SII and PLR ( χ2=0.38, 2.79, P>0.05) and there was a significant difference in the NLR ( χ2=29.59, P<0.05) between patients with good response of tumor regression grade and poor response of tumor regre-ssion grade. (3) Influencing factor analysis for pathologic complete response and good response of tumor regression grade after neoadjuvant chemoradiotherapy. Results of multivariate analysis showed that PLR <138 before neoadjuvant chemoradiotherapy was an independent protective factor for pathologic complete response in ESCC patients undergoing neoadjuvant chemoradiotherapy ( odds ratio=1.98, 95% confidence interval as 1.56?2.51, P<0.05) and NLR <2.09 before neoadjuvant chemo-radiotherapy was an independent protective factor for good response of tumor regression grade ( odds ratio=2.50, 95% confidence interval as 1.40?4.46, P<0.05). (4) Efficiency of immune inflam-matory index in predicting efficacy of neoadjuvant chemoradio-therapy. The AUC of PLR <138 before neoadjuvant chemoradiotherapy in predicting pathologic complete response of ESCC patients undergoing neoadjuvant chemoradiotherapy was 0.79(95% confidence interval as 0.64?0.87, P<0.05), with the sensitivity, specificity and Youden index as 0.89, 0.63 and 0.52, respectively. The AUC of NLR <2.09 before neoadjuvant chemoradiotherapy in predic-ting good response of tumor regression grade of ESCC patients undergoing neoadjuvant chemoradio-therapy was 0.76 (95% confidence interval as 0.64?0.81, P<0.05), with the sensitivity, specificity and Youden index as 0.83, 0.58 and 0.41, respectively. Conclusion:The PLR<138 and NLR <2.09 before neoadjuvant chemoradiotherapy are independent protective factors for the pathologic complete response and good response of tumor regression grade, respectively, of ESCC patients undergoing neoadjuvant chemoradiotherapy, and both of them can predict the curative effect of neoadjuvant chemoradiotherapy well.
2.Risk factors for postoperative pulmonary complications in elderly patients undergoing hip fracture surgery: a meta-analysis
Hengli CHEN ; Si LIANG ; Kangzu PENG ; Guangyi WU ; Sibo LI ; Hongjie WANG
Chinese Journal of Anesthesiology 2022;42(10):1178-1186
Objective:To systematically evaluate the risk factors for postoperative pulmonary complications (PPCs) in elderly patients undergoing hip fracture surgery.Methods:PubMed, Embase, Cochrance Library, CBM, CNKI and Wanfang Databases were searched.Search strategy was subject word combined with random word.The case control and cohort studies involving the influencing factors for PPCs in elderly patients undergoing hip fracture from January 2000 to November 2020 were retrieved.PPCs included pneumonia, aspiration pneumonitis, pulmonary infections, respiratory failure, atelectasis and pleural effusion, etc.The quality of literatures was assessed by using Newcastle-Ottawa Scale, data were extracted and analysis was performed using RevMan5.3 software.Results:A total of 18 studies were finally enrolled, including 15 case control studies and 3 cohort studies.The results of analysis showed that the advanced age, male, history of smoking, low body mass index, history of cerebrovascular accident, history of chronic obstructive pulmonary disease, history of diabetes, preoperative albumin concentration<35 g/L, preoperative hemoglobin concentration<120 g/L, American Society of Anesthesiologists Physical Status classification≥Ⅲ, operation delay≥48 h and general anesthesia were the risk factors for PPCs ( P<0.05). Conclusions:There are numerous risk factors for PPCs in elderly patients undergoing hip fracture surgery, and advanced age, male, history of smoking, low body mass index, history of cerebrovascular accident, history of chronic obstructive pulmonary disease, history of diabetes, preoperative albumin concentration<35 g/L, preoperative hemoglobin concentration<120 g/L, American Society of Anesthesiologists Physical Status classification≥Ⅲ, operation delay≥48 h and general anesthesia are the risk factors for PPCs in elderly patients undergoing hip fracture surgery.
3.Robust Benchmark Structural Variant Calls of An Asian Using State-of-the-art Long-read Sequencing Technologies
Du XIAO ; Li LILI ; Liang FAN ; Liu SANYANG ; Zhang WENXIN ; Sun SHUAI ; Sun YUHUI ; Fan FEI ; Wang LINYING ; Liang XINMING ; Qiu WEIJIN ; Fan GUANGYI ; Wang OU ; Yang WEIFEI ; Zhang JIEZHONG ; Xiao YUHUI ; Wang YANG ; Wang DEPENG ; Qu SHOUFANG ; Chen FANG ; Huang JIE
Genomics, Proteomics & Bioinformatics 2022;20(1):192-204
The importance of structural variants(SVs)for human phenotypes and diseases is now recognized.Although a variety of SV detection platforms and strategies that vary in sensitivity and specificity have been developed,few benchmarking procedures are available to confidently assess their performances in biological and clinical research.To facilitate the validation and application of these SV detection approaches,we established an Asian reference material by characterizing the genome of an Epstein-Barr virus(EBV)-immortalized B lymphocyte line along with identified benchmark regions and high-confidence SV calls.We established a high-confidence SV callset with 8938 SVs by integrating four alignment-based SV callers,including 109x Pacific Biosciences(PacBio)continuous long reads(CLRs),22 x PacBio circular consensus sequencing(CCS)reads,104x Oxford Nanopore Technologies(ONT)long reads,and 114×Bionano optical mapping plat-form,and one de novo assembly-based SV caller using CCS reads.A total of 544 randomly selected SVs were validated by PCR amplification and Sanger sequencing,demonstrating the robustness of our SV calls.Combining trio-binning-based haplotype assemblies,we established an SV benchmark for identifying false negatives and false positives by constructing the continuous high-confidence regions(CHCRs),which covered 1.46 gigabase pairs(Gb)and 6882 SVs supported by at least one diploid haplotype assembly.Establishing high-confidence SV calls for a benchmark sample that has been characterized by multiple technologies provides a valuable resource for investigating SVs in human biology,disease,and clinical research.
4.Dynamic cell transition and immune response landscapes of axolotl limb regeneration revealed by single-cell analysis.
Hanbo LI ; Xiaoyu WEI ; Li ZHOU ; Weiqi ZHANG ; Chen WANG ; Yang GUO ; Denghui LI ; Jianyang CHEN ; Tianbin LIU ; Yingying ZHANG ; Shuai MA ; Congyan WANG ; Fujian TAN ; Jiangshan XU ; Yang LIU ; Yue YUAN ; Liang CHEN ; Qiaoran WANG ; Jing QU ; Yue SHEN ; Shanshan LIU ; Guangyi FAN ; Longqi LIU ; Xin LIU ; Yong HOU ; Guang-Hui LIU ; Ying GU ; Xun XU
Protein & Cell 2021;12(1):57-66
Ambystoma mexicanum/immunology*
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Amputation
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Animals
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Biomarkers/metabolism*
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Blastomeres/immunology*
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Cell Lineage/immunology*
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Connective Tissue Cells/immunology*
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Epithelial Cells/immunology*
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Forelimb
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Gene Expression
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High-Throughput Nucleotide Sequencing
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Humans
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Immunity
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Peroxiredoxins/immunology*
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Regeneration/immunology*
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Regenerative Medicine/methods*
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Single-Cell Analysis/methods*
5.Clinical analysis of mini-invasive treatment for gallstone with non-dilated extrahepatic choledocholithiasis, experiences in 230 patients
Liang ZHAO ; Chao JIANG ; Dawei SUN ; Meng WANG ; Guoyue LYU ; Guangyi WANG
Chinese Journal of General Surgery 2020;35(7):521-523
Objective:To evaluate the methods and effects of mini-invasive treatment of non-dilated common bile duct stones.Methods:From Oct 2015 to Dec 2018, clinical data of 230 cases of cholecystolithiasis combined with non-dilated common bile duct stones (choledochal diameter ≤8 mm) at our hospital were analyzed. The treatment methods included endoscopic retrograde cholangiopancreatography (ERCP)+ synchronous LC, ERCP+ nonsynchronous LC, laparoscopic transcyctic duct common bile duct exploration(LTCBDE).Results:In 69 out of 70 patients in the ERCP+ synchronous LC group stones were successfully extracted. In 118(118/120) cases out of the ERCP+ nonsynchronous LC group common bile duct stones were successfully removed, LTCBDE was performed in 38(38/40) cases and stones were successfully removed. There was no significant difference in the success rate among the three methods ( P>0.05), while patients in LTCBDE group had the shortest mean postoperative hospitalization time ( F=243.22, P=0.000) , the least average hospitalization cost ( F=300.40, P=0.000) and with lower incidence of complications (10.00%, P<0.05). Conclusions:It is of great importance to adopt the appropriate procedures for the mini-invasive treatment of non-dilated extrahepatic common bile duct stones. LTCBDE is the most suitable procedures for this purpose.
6. A multicenter cross-sectional study on chronic critical illness and surgery-related chronic critical illness in China
Sicheng LI ; Jie WU ; Xiangyou YU ; Suming LUO ; Jianzhong WANG ; Liang LUO ; Xisheng ZHENG ; Xiaoning HAN ; Guangyi LI ; Yingjie CHEN ; Chunting WANG ; Ling HUANG ; Qingjun ZENG ; Xiuwen WU ; Jian′an REN
Chinese Journal of Gastrointestinal Surgery 2019;22(11):1027-1033
Objective:
To understand the prevalence, diagnosis and treatment of chronic critical illness (CCI) in China.
Methods:
The clinical data of 472 adult patients admitted to ICU in 53 hospitals, including basic information, disease-related data, nutrition program, etc., were collected on May 10, 2019, by means of multi-center cross-sectional study. If surgical intervention was needed or the occurrence of the disease was directly related to the surgery, ICU patients were regarded as surgical ICU cases (
7.Surgical site infection following abdominal surgery in China: a multicenter cross-sectional study.
Zhiwei WANG ; Jun CHEN ; Jianan REN ; Peige WANG ; Zhigang JIE ; Weidong JIN ; Jiankun HU ; Yong LI ; Jianwen ZHANG ; Shuhua LI ; Jiancheng TU ; Haiyang ZHANG ; Hongbin LIU ; Liang SHANG ; Jie ZHAO ; Suming LUO ; Hongliang YAO ; Baoqing JIA ; Lin CHEN ; Zeqiang REN ; Guangyi LI ; Hao ZHANG ; Zhiming WU ; Daorong WANG ; Yongshun GAO ; Weihua FU ; Hua YANG ; Wenbiao XIE ; Erlei ZHANG ; Yong PENG ; Shichen WANG ; Jie CHEN ; Junqiang ZHANG ; Tao ZHENG ; Gefei WANG
Chinese Journal of Gastrointestinal Surgery 2018;21(12):1366-1373
OBJECTIVE:
To determine the incidence of surgical site infection (SSI) after abdominal surgery and to further evaluate the related risk factors of SSI in China.
METHODS:
The multicenter cross-sectional study collected clinical data of all adult patients who underwent abdominal surgery from May 1, 2018 to May 31, 2018 in 30 domestic hospitals, including basic information, perioperative parameters, and incisional microbial culture results. The primary outcome was the incidence of SSI within postoperative 30 days. SSI was classified into superficial incision infection, deep incision infection, and organ/gap infection according to the US Centers for Disease Control and Prevention (CDC) criteria. The secondary outcome variables were ICU stay, postoperative hospital stay, total hospital stay, 30-day mortality and treatment costs. Multivariate logistic regression was used to analyze the risk factors of SSI.
RESULTS:
A total of 1666 patients were enrolled in the study, including 263 cases of East War Zone Hospital of PLA, 140 cases of Affiliated Hospital of Qingdao University, 108 cases of The First Affiliated Hospital of Nanchang University, 87 cases of Central War Zone Hospital of PLA, 77 cases of West China Hospital, 74 cases of Guangdong General Hospital, 71 cases of Chenzhou First People's Hospital, 71 cases of Zigong First People's Hospital, 64 cases of Zhangjiagang First People's Hospital, 56 cases of Nanyang City Central Hospital, 56 cases of Lanzhou General Hospital of Lanzhou Military Command, 56 cases of Shandong Provincial Hospital, 52 cases of Shangqiu First People's Hospital, 52 cases of People's Hospital of Xinjiang Uygur Autonomous Region, 48 cases of The Second Xiangya Hospital of Central South University, 48 cases of Chinese PLA General Hospital, 44 cases of Affiliated Hospital of Xuzhou Medical University, 38 cases of Hunan Province People's Hospital, 36 cases of Dongguan Kanghua Hospital, 30 cases of Shaoxing Central Hospital, 30 cases of Northern Jiangsu People's Hospital, 29 vases of The First Affiliated Hospital of Zhengzhou University, 27 cases of General Hospital of Tianjin Medical University, 22 cases of Zigong Fourth People's Hospital, 21 cases of The Second Hospital of University of South China, 18 cases of Tongji Hospital, 15 cases of Nanchong Central Hospital, 12 cases of The 901th Hospital of PLA, 11 cases of Hunan Cancer Hospital, 10 cases of Lanzhou University Second Hospital. There were 1019 males and 647 females with mean age of (56.5±15.3) years old. SSI occurred in 80 patients (4.8%) after operation, including 39 cases of superficial incision infection, 16 cases of deep incision infection, and 25 cases of organ/interstitial infection. Escherichia coli was the main pathogen of SSI, and the positive rate was 32.5% (26/80). Compared with patients without SSI, those with SSI had significantly higher ICU occupancy rate [38.8%(31/80) vs. 13.9%(220/1586), P<0.001], postoperative hospital stay (median 17 days vs. 7 days, P<0.001) and total hospital stay (median 22 days vs. 13 days, P<0.001), and significantly higher cost of treatment (median 75 000 yuan vs. 44 000 yuan, P<0.001). Multivariate analysis showed that male rise(OR=2.110, 95%CI:1.175-3.791, P=0.012), preoperative blood glucose level rise(OR=1.100, 95%CI: 1.012-1.197, P=0.026), operative time (OR=1.006, 95%CI:1.003-1.009, P<0.001) and surgical incision grade (clean-contaminated incision:OR=10.207, 95%CI:1.369-76.120, P=0.023; contaminated incision: OR=10.617, 95%CI:1.298-86.865, P=0.028; infection incision: OR=20.173, 95%CI:1.768-230.121, P=0.016) were risk factors for SSI; and laparoscopic surgery (OR=0.348, 95%CI:0.192-0.631, P=0.001) and mechanical bowel preparation(OR=0.441,95%CI:0.221-0.879, P=0.020) were protective factors for SSI.
CONCLUSIONS
The incidence of postoperative SSI in patients with abdominal surgery in China is 4.8%. SSI can significantly increase the medical burden of patients. Preoperative control of blood glucose and mechanical bowel preparation are important measures to prevent SSI.
Abdomen
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surgery
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Adult
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Aged
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China
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Cross-Sectional Studies
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Female
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General Surgery
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statistics & numerical data
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Humans
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Male
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Middle Aged
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Operative Time
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Postoperative Complications
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prevention & control
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Preoperative Period
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Retrospective Studies
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Risk Factors
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Surgical Wound Infection
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prevention & control
8.Cost-minimization Analysis of Liraglutide and Insulin Glargine in the Treatment of Type 2 Diabetes Mellitus
Guangyi MENG ; Dongxiao WANG ; Jialian PANG ; Pingzhi PENG ; Jinquan MO ; Haolin YAN ; Hui LIANG ; Ping ZHANG
China Pharmacy 2016;27(17):2309-2311,2312
OBJECTIVE:To evaluate the clinical efficacy of liraglutide and insulin glargine in the treatment of type 2 diabetes mellitus (T2DM) and conduct pharmacoeconomic analysis, and to provide economical and reasonable T2DM treatment plan. METHODS:80 T2DM patients were randomized into liraglutide group and insulin glargine group,with 40 cases in each group. Both groups were given Metformin hydrochloride sustained-release tablet orally 0.5-2.0 g/d,and diabetes mellitus diet and sport training guide after oral antidiabetic drug withdrawal of previous treatment plan. Liraglutide group was given Liraglutide injection hypodermically,0.6-1.2 mg,qd;insulin glargine group was given insulin glargine hypodermically at 22 o’clock,initial dose of 0.2 IU/(kg·d),adjusted according to the levels of PG,FBG,nocturnal blood glucose level till FBG≤7 mmo1/L and 2 h PG ≤10 mmol/L in both group. Treatment course of 2 groups lasted for 12 weeks. The changes of FBG,2 h PG,HbA1c and BMI were ob-served in 2 groups before and after treatment. 2 therapy plans were evaluated and compared by cost-minimization analysis. RE-SULTS:After treatment,the levels of FBG,2 h PG and HbA1c decreased significantly in 2 groups,compared to before treatment, with statistical significance (P<0.05),but there was no statistical significant difference between 2 groups (P>0.05). After treat-ment,BMI of liraglutide group decreased significantly compared with before treatment and insulin glargine group,with statistical significance (P<0.05). There was no statistical significant difference in BMI of insulin glargine group before and after treatment (P>0.05). Cost-minimization analysis showed that the cost of insulin glargine group in reducing FBG,2 h PG and HbA1c were less than liraglutide group,but were more than liraglutide group in reducing BMI. Sensitivity analysis demonstrated the stability and reliability of cost-minimization analysis. CONCLUSIONS:Lira-glutide and insulin glargine have the same clinical efficacy,but insulin glargine need lower cost in blood glucose control,and liraglutide is better therapy plan for body weight control.
9.Treatment of open comminuted intra-articular calcaneal fractures with extensible gimbaled bilateral triangle external fixators
Wei LIANG ; Guangyi ZOU ; Jiwei WANG ; Xudong MIAO
Chinese Journal of Orthopaedic Trauma 2016;18(9):809-813
Objective To report the clinical outcomes of the patients with open comminuted intra-articular calcaneal fracture who were treated with our self-designed bilateral triangle external fixators which are extensible and gimbaled.Methods Between January 2011 and June 2014,12 patients with open comminuted intra-articular calcaneal fracture were treated and followed up.They were 8 men and 4 women,aged from 23 to 58 years (average,36.8 years).According to the Sanders classification,the fractures were type Ⅱ in 4 cases,type Ⅲ in 7,and type Ⅳ in one.According to the Gustilo classification,the soft tissue injury was type Ⅱ in 2 cases,type ⅢA in 7,and type Ⅲ B in 3.All the patients were treated with immediate debridement and preventive intravenous antibiotics.First stage wound closure or temporary coverage with vacuum sealed drainage was chosen according to the condition of soft tissue injury.Our self-designed bilateral triangle external fixators were applied together with cannulated screws or Kirschner wire in all the patients after Kirschner wire poking.Of them,7 received emergency treatment and 5 were treated 3 to 5 days after injury.After no wound infection was observed for sure,6 cases received selective open reduction and internal fixation via a lateral incision while 6 continued external fixation with Kirschner wire for 8 to 10 weeks (average,9.1 weeks).Results The 12 patients were followed up for 6 to 36 months (average,18.5 months).Their AOFAS scores averaged 84.6 points (range,from 74 to 94 points).One case required tissue transfer for wound coverage.Wound shallow infection developed in 3 cases.No deep infection or amputation happened.No wound infection or necrosis occurred in the 6 cases that had undergone open reduction and internal fixation at the second stage.Conclusion Application of our self-designed extensible gimbaled bilateral triangle external fixators in the treatment of open comminuted intra-articular calcaneal fractures may help effectively reduce the deep infection or incidence of osteomyelitis after operation as long as early debridement is thorough,internal fixation is timely applied,and indications for internal fixation are properly followed.
10.Gene analysis in a family of hereditary hemorrhagic telangiectasia.
Dong YUAN ; Xiaohua YIN ; Yuhong DAI ; Bing LI ; Keji LIANG ; Guangyi WEI
Chinese Journal of Hematology 2015;36(2):112-115
OBJECTIVETo investigate the clinical feature of a family with hereditary hemorrhagic telangiectasia (HHT), and to study the mutation of its related genes.
METHODSMedical histories of the family were analyzed to detect HHT patients according to the diagnostic criteria. ENG and ALK-1 genes of the proband and her two daughters were analyzed. DNA from the three patients' peripheral blood was extracted. The exons 2-10 and their intron-exon boundaries of ALK1 were amplified with PCR, and then the PCR products were sequenced and analyzed to identify the mutation.
RESULTSThere were 11 people in 41 family members of 4 generations were diagnosed as HHT. The proband and her two daughters suffered from multiple organ damage, the younger daughter appeared only imaging features instead of corresponding clinical symptoms. A missense mutation at the 1321 bp of cDNA (c.1321G>A) was detected in the exon 9 of ALK1, which resulted in valine 441 to methionine replacement in ALK-1 protein (p.Val441Met).
CONCLUSIONA Chinese family with HHT was studied and a missense mutation (c.1321G>A, p.Val441Met) of ALK-1 was discovered. This mutation is the genetic basis of the family with HHT and is reported for the first time in China. This research will not only help to further investigate molecular mechanism of pathogenesis of HTT, but also provide evidences and references for the following gene screening and genetic counseling on HTT family members.
Asian Continental Ancestry Group ; Base Sequence ; China ; Exons ; Genetic Predisposition to Disease ; Humans ; Introns ; Mutation ; Polymerase Chain Reaction ; Telangiectasia, Hereditary Hemorrhagic

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