Table of Content

30 April 2018, Volume 33 Issue 4

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Orginal Article

Serum immunoglobulin and other factors on the effect of blood separating in separator gel tubes

ZHANG Jingyu, FAN Hong, LU Bingtong, HU Haitao

2018, 33(4):  275-278.  DOI: 10.3969/j.issn.1673-8640.2018.04.001

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Objective To investigate serum immunoglobulin（Ig） and other factors on the effect of blood separating in separator gel tubes. Methods A total of 221 multiple myeloma（MM） patients were enrolled（149 cases of IgG type,65 cases of IgA type and 7 cases of IgM type）. According to Ig levels,IgG type was classified into IgG≤47 g/L group（group A,84 cases） and IgG>47 g/L group（group B,65 cases）,IgA type was classified into IgA≤38 g/L group（group C,39 cases） and IgA>38 g/L group（group D,26 cases）,and IgM type was IgM≤63 g/L group（group E,7 cases）. According to total protein（TP） levels,50 patients with autoimmune disease were classified into TP≤90 g/L group（group F,27 cases） and TP>90 g/L group（group G,23 cases）. According to hematocrit（HCT） levels,55 patients with anemia were classified into HCT≤30% group（group H,26 cases） and HCT>30% group（group I,29 cases）. Fasting venous blood was collected in 2 kinds of separator gel tubes. Centrifugation occurred after complete solidification,and then blood separating effects were observed. Results For two kinds of separator gel tubes of group B and group D,there were 4 layers,including serum,red blood cell（RBC）,separator gel and RBC from top to bottom. The top serum was rare,following RBC increased significantly,and bottom RBC was rare. For two kinds of separator gel tubes of group A,C,E,F,G,H and I,there were 3 layers,including serum,separator gel and RBC from top to bottom. Serum was rich. Conclusions Blood separating in separator gel tubes is influenced by many factors,such as the levels of Ig,TP and HCT,and MM patients with increasing levels of Ig and TP and decreasing level of HCT are inappropriate for using separator gel tubes.

Determination of Tc9 cells in peripheral blood of infants with recurrent wheezing

YU Jianxiu, QIAN Lei, XU Donghui, LIU Guangliang

2018, 33(4):  279-284.  DOI: 10.3969/j.issn.1673-8640.2018.04.002

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Objective To investigate the role of Tc9 cells in the pathogenesis of recurrent wheezing,through determining the proportion of Tc9 cells in peripheral blood. Methods A total of 34 infants with recurrent wheezing were enrolled as wheezing group,and 34 age-matched healthy infants were enrolled as control group. The proportion of Tc9 cells was determined by flow cytometry. The levels of peripheral blood mononuclear cell（PBMC） interleukin（IL）-9 mRNA and interferon regulatory factor 4（IRF4） mRNA were determined by reverse transcription polymerase chain reaction（PCR）. The cytokines（IL-9,IL-17A,IL-4 and IL-33） and transforming growth factor（TGF）-beta 1 were determined by LUMINEX 200 liquid phase chip analysis system. Results The proportion of Tc9 cells in wheezing group [2.01（0.67,4.52）%] was higher than that in control group [0.76（0.21,1.46）%]（P<0.05）. PBMC IL-9 mRNA and IRF4 mRNA levels in wheezing group were higher than those in control group（P<0.05）,which showed positive correlations with the proportion of Tc9 cells（r=0.501,P=0.002;r=0.504,P=0.002）. Compared to control group,there were higher levels of IL-9,IL-4,IL-33 and TGF-beta 1 in wheezing group（P<0.05）. The levels of IL-17A had no statistical significance between the 2 groups（P>0.05）. The proportion of Tc9 cells showed positive correlations with the levels of serum IgE（r=0.354,P=0.039） and IL-9（r=0.459,P=0.006） and no correlation with the levels of IL-33,IL-4 and TGF-beta 1（r=0.241,P=0.169;r=0.252,P=0.153;r=0.236,P=0.178）. Conclusions Peripheral blood Tc9 cell may play a role in the pathogenesis of recurrent wheezing.

Characteristics of lymphocyte subsets and Epstein-Barr virus DNA load in children with Epstein-Barr virus infection

RONG Tingting, WANG Weiwei, WANG Juanjuan, ZHANG Lihua, SHEN Lisong

2018, 33(4):  285-289.  DOI: 10.3969/j.issn.1673-8640.2018.04.003

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Objective To investigate the characteristics of lymphocyte subsets in children with Epstein-Barr virus（EBV） infection,and to study EBV DNA load. Methods A total of 17 infectious mononucleosis（IM）patients,18 chronic active Epstein-Barr virus（CAEBV） infection patients and 15 healthy children were enrolled. Lymphocyte subsets were determined by flow cytometry. EBV DNA load in peripheral blood was determined by fluorescence quantitation polymerase chain reaction（PCR）. The results were analyzed statistically by Kruskal-Wallis H test and Mann-Whitney U test. The correlation analysis was performed by Spearman method. Results The lymphocyte count and proportion and CD4⁺T and CD8⁺T cell counts in IM group were higher than those in healthy control group（P<0.05）,and the proportion and count median of CD8⁺T cell reached up to 61.5% and 5 217/μL. Natural killer（NK） cell and CD19⁺ cell proportions in IM group were lower than those in healthy control group（P<0.05）. The lymphocyte proportion in CAEBV group was higher than that in healthy control group（P<0.05）,and there was no statistical significance in B,NK,CD4⁺T and CD8⁺T cell counts between the 2 groups（P>0.05）. CD4⁺T and CD8⁺T cell counts in CAEBV group were lower than those in IM group（P<0.05）. The medians of EBV DNA load in IM and CAEBV groups were 4.90×10³ and 1.25×10^{4 copies}/mL,respectively. The EBV DNA loads between the 2 groups had statistical significance（P=0.027）. No correlation was found between the number of lymphocyte subsets and EBV DNA load（P>0.05）. Conclusions The characteristics of lymphocyte subsets between the 2 groups are different. The increasing of extensively activated CD8⁺T cells in IM group is a cause for lymphocyte count increasing. The combined determination of lymphocyte subsets and EBV DNA load is helpful for the differential diagnosis of IM infection and CAEBV infection.

Th1/Th2 cytokines secreted by phytohaemagglutinin-stimulated peripheral blood mononuclear cells for the diagnosis of Alzheimer's disease

DING Bingyu, LIN Ping, LI Qingtian

2018, 33(4):  290-294.  DOI: 10.3969/j.issn.1673-8640.2018.04.004

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Objective To investigate the roles of cytokines,serum cytokines and blood lipid secreted by phytohaemagglutinin（PHA）-stimulated peripheral blood mononuclear cells（PBMC） for the diagnosis of Alzheimer's disease（AD）. Methods A total of 100 AD patients and 100 healthy subjects were enrolled,and their blood samples were collected. PBMC was extracted. The levels of culture solution cytokine interleukin（IL）-1 alpha,IL-6,IL-10,tumor necrosis factor alpha（TNF-α） and interferon gamma（IFN-γ）,serum cytokines（sIL-1α）,sIL-6,sIL-10,sTNF-α and sIFN-γ and blood lipid [total cholesterol（TC）,triglyceride（TG）,high-density lipoprotein cholesterol（HDL-C） and low-density lipoprotein cholesterol（LDL-C）] levels were determined by enzyme-linked immunosorbent assay（ELISA）. Samples were collected and determined again after 6 weeks. Results The levels of IL-1α and IFN-γ in AD group were higher than those in control group（P<0.05）,while the level of IL-10 in AD group was lower than that in control group（P<0.05）. The levels of sIL-6 and sTNF-α were higher in AD group than those in control group（P<0.05）. The levels of TC,TG and LDL-C in AD group were higher than those in control group（P<0.05）. After 6 weeks,the results of re-sampling were similar those of the first determination. Conclusions Cytokines,serum cytokines and blood lipid secreted by PHA-stimulated PBMC,such as IFN-γ, may be associated with AD. Among them,IFN-γ,sIL-6,sTNF-α,TC,TG and LDL-C may be potential for the diagnosis of AD.

Role of serum CX3CL1 in bone metastatic lung cancer

XU Chen, TANG Xiaofeng

2018, 33(4):  295-298.  DOI: 10.3969/j.issn.1673-8640.2018.04.005

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Objective To investigate the role of serum CX3 chemokine ligand 1（CX3CL1） in bone metastatic lung cancer patients. Methods A total of 40 lung cancer patients with bone metastasis and 40 lung cancer patients without distant metastasis（control group） were enrolled. Serum CX3CL1 expression was determined in 80 lung cancer patients（57 cases of adenocarcinoma and 23 cases of squamous carcinoma） by enzyme-linked immunosorbent assay（ELISA）. Combined with clinicopathologic analysis,the difference of serum CX3CL1 expression levels was analyzed retrospectively. Results Serum CX3CL1 expression level in metastasis group [（0.69±0.09） ng/mL] was higher than that in non-metastasis group [（0.62±0.06）ng/mL]（P<0.001）. Among 57 adenocarcinoma cases,serum CX3CL1 expression level in metastasis group （33 cases）[（0.68±0.09）ng/mL] was higher than that in non-metastasis group（24 cases） [（0.61±0.06）ng/mL]（P=0.002）. Among 23 squamous carcinoma cases,serum CX3CL1 expression level in metastasis group （7 cases）[（0.74±0.05）ng/mL] was higher than that in non-metastasis group（16 cases）[（0.63±0.07）ng/mL]（P<0.05）. The difference of serum CX3CL1 expression with different primary lesion sizes,ages and sex had no statistical significance（P>0.05）. Conclusions Serum CX3CL1 could be used as an independent marker for predicting bone metastasis in lung cancer patients.

Urinary sediment analysis combined with serum procalcitonin determination in the diagnosis of urinary tract infection

YU Peijuan, ZHANG Gaolin, YAN Ruhong, FENG Ping, SUN Lanyun, ZHU Xueming, WANG Jinghua

2018, 33(4):  299-304.  DOI: 10.3969/j.issn.1673-8640.2018.04.006

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Objective To investigate the role of urinary sediment analysis by UF-1000i urinalysis analyzer combined with serum procalcitonin（PCT） determination in the diagnosis of urinary tract infection. Methods A total of 1 372 urine specimens were collected in sterile process and determined for urinary bacterial culturing and the cut-off values of bacterium and white blood cell counts by UF-1000i. The result of urinary bacterial culturing was used as golden standard. The sensitivities and specificities were evaluated. The consistency of bacterium scatter diagram information of UF-1000i and urinary bacterial culturing was analyzed. Serum PCT levels of urinary bacterial culturing positive group,urinary bacterial culturing negative group,UF-1000i positive group and UF-1000i negative group were compared. Results The cut-off value of white blood cell count was 27.5/μL,and the cut-off value of bacterium count was 143.5 /μL. Using positive bacterium and white blood cell counts as screening parameters,the specificity was 92.7%,and the false negative rate was 30.8%. Using positive bacterium or white blood cell count as screening parameter,the specificity was 55.3%,and the false positive rate was 44.7%. The consistency of bacterium scatter diagram information of UF-1000i and urinary bacterial culturing was 57%. The level of serum PCT in UF-1000i positive group was higher than those in UF-1000i negative group and normal control group（P<0.05）,but there was no statistical significance for UF-1000i positive group compared with urinary bacterial culturing positive group（P>0.05）. UF-1000i positive group combined with serum PCT determination can improve specificity for urinary tract infection. Conclusions UF-1000i white blood cell and bacterium counts and serum PCT level could be used for screening urinary tract infection.

Difference of 10-year risk of cardiovascular disease among elderly people through different cardiovascular disease risk assessment systems

SHI Meifang, SHEN Yifeng, SHEN Junfei, WANG Beili, GUO Wei, LI Gang, PAN Baishen

2018, 33(4):  305-311.  DOI: 10.3969/j.issn.1673-8640.2018.04.007

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Objective To investigate the epidemiological characteristics of cardiovascular disease in Shanghai Baoshan District Youyi Community elderly people,to compare the difference of 10-year risk of cardiovascular disease through different cardiovascular disease risk assessment systems. Methods A total of 1 983 cases of over 60-year old were enrolled from Shanghai Baoshan District Youyi Community. The baseline data were collected,and fasting venous blood samples were collected to determine total cholesterol（TC） and high-density lipoprotein cholesterol（HDL-C）. The baseline data from the derivation cohort of each cardiovascular disease risk score [Framingham risk score,ischemic cerebral vascular disease（ICVD） risk assessment model,Reynold's risk score,SCORE risk score（Spain）,SCORE risk score（Finland） and QRISK2 risk score] were compared with the baseline data of elderly people from Shanghai Baoshan District Youyi Community. Framingham risk score,Reynold's risk score and SCORE risk scores and Chinese Adult Dyslipidemia Prevention Guideline（2016 revised edition） atherosclerotic cardiovascular disease（ASCVD） risk algorithm were used to calculate the difference of 10-year risk of cardiovascular disease among elderly people in Shanghai Baoshan District Youyi Community. Results Among the 1 983 elderly people,there were 32（1.61%） cases with cerebrovascular diseases and 56（2.82%） cases with heart diseases. There was difference between the baseline of Youyi Community elderly people and the baseline of derivation cohort. The risk rates of Framingham risk score and Reynold's risk score in predicting 10-year risk of cardiovascular disease were 28.73% and 13.95%, respectively. The risk rates of SCORE risk scores for high risk region and low risk region were 7.29% and 4.14%,respectively. According to related guidelines,the risk rates of Framingham,Reynold's and SCORE（high risk region） risk score were stratified,and there were 11.29% cases in the same risk group and other 88.71% cases with difference in the stratification of risk groups. Conclusions The elderly people in Shanghai Baoshan District Youyi Community have high risk of cardiovascular disease. There exists difference among Framingham,Reynold's and SCORE risk scores in predicting 10-year risk of cardiovascular disease.

Roles of glycated hemoglobin A_1c and glycated albumin in screening gestational diabetes mellitus among elderly pregnant women

JIN Yuewen, YUE Chaoyan, YING Chunmei

2018, 33(4):  312-315.  DOI: 10.3969/j.issn.1673-8640.2018.04.008

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Objective To investigate the roles of glycated hemoglobin A_1c（HbA_1c） and glycated albumin（GA） in screening gestational diabetes mellitus（GDM） among elderly pregnant women. Methods A total of 1 201 pregnant women ≥35 years old,including 626 cases of normal blood glucose（control group） and 575 cases of GDM,were enrolled. Blood glucose was determined by hexokinase method,HbA_1c was determined by high performance liquid chromatography,and GA was determined by enzymatic method. Patients with GDM were classified into 3 groups according to the results of oral glucose tolerance test（OGTT）（fasting blood glucose,1 h blood glucose and 2 h blood glucose）. Among them,there were 330 cases with 1 abnormal value,170 cases with 2 abnormal values and 75 cases with 3 abnormal values. The levels of HbA_1c and GA among these groups were compared. The correlation was analyzed by Pearson correlation analysis. The roles of HbA_1c and GA for the diagnosis of GDM were evaluated by receiver operating characteristic（ROC） curve and Logistic regression analysis. Results Compared with control group,the levels of HbA_1c and GA in GDM group were increased（P<0.01）. In patients with GDM,the HbA_1c level with 3 abnormal values was higher than those with 2 abnormal values and 1 abnormal value（P<0.01）. The GA levels with 3 abnormal values and 2 abnormal values were higher than that with 1 abnormal value（P<0.01）. The correlation analysis showed that HbA_1c and GA were positively correlated with fasting blood glucose（r=0.309 and 0.141,P<0.01）,and HbA_1c and GA were positively correlated（r=0.206,P<0.01）. ROC curve showed that the area under curve [95% confidence interval（CI）] of HbA_1c and GA combined determination was 0.851（0.821-0.881）,which was better than those of single determinations. Conclusions The combined determination of HbA_1c and GA plays a role in the diagnosis of GDM among elderly pregnant women.

Roles of nitric oxide,endothelin-1 and homocysteine for the auxiliary diagnosis of coronary heart disease

YANG Xuesong, SUN Fenyong, LI Zebing, WANG Jian

2018, 33(4):  316-320.  DOI: 10.3969/j.issn.1673-8640.2018.04.009

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Objective To investigate the roles of serum nitric oxide（NO）,endothelin-1（ET-1） and homocysteine（Hcy） for the auxiliary diagnosis of coronary heart disease and their correlations. Methods Serum levels of NO,ET-1 and Hcy were determined in 264 patients with coronary heart disease and 90 healthy subjects（healthy control group）. The roles of NO,ET-1 and Hcy for the auxiliary diagnosis of coronary heart disease were evaluated by receiver operating characteristic（ROC） curve. The sensitivities and specificities of the 3 indices were determined according to optimal cut-off values. The risk factors,including age,sex,diabetes mellitus,hypertension,dyslipidemia,smoking and obesity,were used to correct the 3 indices. Unconditional Logistic regression analysis was used to assess the roles of NO,ET-1 and Hcy as risk factors for coronary heart disease and their correlations with coronary heart disease. Results The level of serum NO in coronary heart disease group was lower than that in healthy control group（P<0.001）,while the levels of ET-1 and Hcy were higher than those in healthy control group（P<0.001）. The areas under ROC curves of serum NO,ET-1 and Hcy for the auxiliary diagnosis of coronary heart disease were 0.723,0.742 and 0.718,respectively. The unconditional Logistic regression analysis showed that the odds ratios（OR） of NO,ET-1 and Hcy were 2.254,5.116 and 2.308,and 95% confidence intervals（CI） were 1.028-4.938,2.498-10.479 and 1.038-5.131,respectively. The indices having correlation intensities with coronary heart disease from high to low were ET-1,Hcy and NO. Conclusions Serum NO,ET-1 and Hcy play roles for the auxiliary diagnosis of coronary heart disease,and they are risk factors for coronary heart disease.

Methodology evaluation of determining the drug resistance of Mycobacterium tuberculosis to pyrazinamide

ZHANG Yangyi, JIANG Yuan, WU Jie, WANG Lili, YU Chenlei, LI Jing

2018, 33(4):  326-330.  DOI: 10.3969/j.issn.1673-8640.2018.04.012

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Objective To compare the performance of MGIT 960 system,pyrazinamidase（PZase） activity assay and pncA gene sequencing for the determination of Mycobacterium tuberculosis drug resistance to pyrazinamide （PZA）. Methods The drug resistance to PZA of 207 Mycobacterium tuberculosis isolates from Shanghai Municipal Center for Disease Control and Prevention in 2014 were determined by the 3 methods. Results There were 38 isolates with inconsistent results by the 3 methods. After repeated experiments,10 of 13 isolates reported as PZA being resistant by MGIT 960 system proved susceptible. When the results were consistent in 2 methods or more than 2 methods as reference results,the sensitivities of MGIT 960 system,PZase activity assay and pncA gene sequencing were 94.8%,100.0% and 94.8%,respectively. The specificities of MGIT 960 system,PZase activity assay and pncA gene sequencing were 93.3%,83.9% and 98.0%,respectively. Compared with the reference results,the Kappa values of MGIT 960 system,PZase activity assay and pncA gene sequencing were 0.85,0.74 and 0.93,respectively. Conclusions The performance of MGIT 960 system and pncA gene sequencing shows consistency with the reference results. There exists false positive results for PZA drug resistance determination by MGIT 960 system. Mycobacterium tuberculosis isolates report as PZA being resistant by MGIT 960 system,which should be determined by pncA gene sequencing. If the 2 methods have inconsistent results,repeated experiments should be performed for improving the accuracy of PZA drug resistance determination.

CFW fluorescent staining in detecting suspected fungal infection

HE Wenjing, GAO Zhiqin, CHEN Jian, REN Hongjin, YANG Hong, CAI Qing, YANG Lianjuan

2018, 33(4):  331-334.  DOI: 10.3969/j.issn.1673-8640.2018.04.013

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Objective To investigate the role of fluorescent dye Calcofluor White（CFW） in the diagnosis of fungal infection,and to compare with KOH microscopic examination and fungal culturing,so as to find an effective method for detecting fungi. Methods A total of 150 clinically suspected patients with fungal infection were enrolled,and the samples were detected by CFW,KOH microscopic examination and fungal culturing. Results The positive rate of CFW was 85.8%,the positive rate of KOH microscopic examination and fungal culturing were 76.1% and 71.0%,respectively. There was statistical significance between CFW and KOH microscopic examination（χ²=14.45,P<0.05）. Conclusions CFW could improve positive rate,and it is an effective method for detecting fungi.

Evaluation of 3 methods of plasma microRNA extraction

HUANG Xuewen, PAN Jie, ZHAO Lanjing, WU Yin, ZHU Juping

2018, 33(4):  335-338.  DOI: 10.3969/j.issn.1673-8640.2018.04.014

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Objective To evaluate 3 methods of plasma microRNA（miRNA） extraction. Methods Plasma miRNA of 20 volunteers was extracted by domestic and imported silica gel adsorption column methods and TRIzol method. The content of β-globin gene was determined by TaqMan polymerase chain reaction（PCR） to observe the purity of RNA. The miRNA-21 content was determined by reverse transcription stem loop primers and TaqMan-MGB probe PCR to observe the efficiency of miRNA extraction. Results The Ct values of β-globin gene extracted by domestic and imported silica gel adsorption column methods and TRIzol method were 35.487±0.356,35.591±0.332 and 33.529±0.499,respectively. The Ct values of β-globin gene by the 3 methods had statistical significance（P<0.001）. The Ct values of β-globin gene by domestic and imported silica gel adsorption column methods were higher than that by TRIzol method（P<0.000 1）. There was no statistical significance for the Ct values of β-globin gene between the 2 silica gel adsorption column methods（P=0.345 4）. The miRNA-21 Ct values of domestic and imported silica gel adsorption column methods and TRIzol method were 26.527±0.158,26.653±0.201 and 28.169±0.385,respectively. There was statistical significance among the 3 methods（P=0.000 3）. The miRNA-21 Ct values of domestic and imported silica gel adsorption column methods were lower than that of TRIzol method（P<0.000 1）. The miRNA-21 Ct value of domestic silica gel adsorption column method was lower than that of imported one（P=0.033 7）. Conclusions The silica gel adsorption column method for extracting miRNA can effectively improve the extraction efficiency and purity of miRNA,and the domestic silica gel adsorption column method can replace the imported one.

Real-time fluorescence quantitation polymerase chain reaction for Neisseria meningitidis determination

WANG Chongyi, SHI Xunzhong, SUN Zhenglin

2018, 33(4):  339-342.  DOI: 10.3969/j.issn.1673-8640.2018.04.015

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Objective To study the role of real-time fluorescence quantitation polymerase chain reaction（PCR） for Neisseria meningitidis（Nm） determination. Methods A total of 70 cerebrospinal fluid specimens were collected from patients with suspected meningitis. One part was performed bacterial culturing,and another part was determined by real-time fluorescence quantitation PCR. The positive rates,sensitivities and specificities of the 2 methods were compared. Results The positive rate of Nm by bacterial culturing was 70.00%（49 cases）. Real-time fluorescence quantitation PCR showed a positive rate of 95.71%（67 cases）. There was statistical significance for the positive rates between the 2 methods（P<0.05）. The results of real-time fluorescence quantitation PCR and bacterial culturing showed a consistency rate of 70.00%. There were 18 cases being negative by bacterial culturing but being positive by real-time fluorescence quantitation PCR. The specificity of real-time fluorescence quantitation PCR was 100%,and no false negative results were obtained. The positive and negative predictive values were 73.13% and 0.00%,respectively. The lower limit of determination was 10³ copies /mL. The linear range was 2×10³-2×10⁷ copies/L. Conclusions Real-time fluorescence quantitation PCR for Nm determination has high sensitivity and specificity and is rapid and convenient,which can be used for the etiological diagnosis of meningitis epidemiology.

Optimization and monitoring for pre-analysis process in medical laboratory accreditation

XIAO Linlin, DU Ying, LIU Weiwei, WEI Quhao, FENG Jing

2018, 33(4):  343-347.  DOI: 10.3969/j.issn.1673-8640.2018.04.016

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Objective To investigate the optimization and monitoring strategies for pre-analysis process in medical laboratory accreditation,and to improve management efficiency and ensure determination quality. Methods According to CNAS-CL02：2012 Guidelines for Quality and Competence of Medical Laboratories（ISO 15189：2012）,laboratory internal audit mechanism was used to find and analyze the problems in pre-analysis process and take effective measures. The optimization effect was assessed. Results After the optimization of technology and management,the key quality indices of pre-analysis process were improved,and the satisfaction from doctors and patients was improved. Conclusions ISO 15189 combined with pre-analysis process optimization and monitoring can improve management efficiency,in order to ensure determination quality and improve doctors' and patients' satisfaction.

Analysis on the results of creatinine,uric acid and urea determination trueness verification in Shanghai,2016

JIN Zhonggan, JU Yi, LI Qing, TANG Liping, YU Xiaoxuan, LIU Wenbin, OU Yuanzhu

2018, 33(4):  348-352.  DOI: 10.3969/j.issn.1673-8640.2018.04.017

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Objective To evaluate the determination quality of creatinine（Cr）,uric acid（UA） and urea（Urea） determinations in clinical laboratories,through analyzing the results of small molecule determination trueness verification in Shanghai,2016. Methods Remaining samples from clinical laboratories were collected,and high-level and low-level frozen mixed blood samples were prepared. These samples were determined repeatedly in different working days,and the results were returned through network. Reference methods were used to assignment simultaneously. Biases and coefficients of variation（CV） of the 3 parameters were obtained and analyzed according to different instrument systems. Results According to different instrument systems,the bias between Cr-2016A determination results and target value was -5.54%-0.62%,and that between Cr-2016B determination results and target value was -5.34%-2.89%. The bias between UA-2016A determination results and target value was -1.43%-2.62%,and that between UA-2016B determination results and target value was -1.49%-3.73%. The bias between Urea-2016A determination results and target value was -1.74%-0.81%,and that between Urea-2016B determination results and target value was -0.08%-1.16%. The performance was assessed according to the criterion listed in the analytical quality specification for routine analysis in clinical biochemistry （WS/T 403—2012） and the target value by reference methods. The failure ratios of Cr determination in high-level and low-level frozen mixed blood samples were 17.14% and 7.14%,the failure ratios of UA determination were 10.00% and 14.29%,and the failure ratios of Urea determination were 41.43% and 37.14%,respectively. Conclusions The accuracies of Cr and UA can meet related requirements in most clinical laboratories. However,the determination quality of Urea still should be improved.

Two cases of Sotos syndrome：case report and literature review

LU Yonggang, XU Yufei, YAO Ruen, LI Niu, YU Tingting, WANG Xiumin, SHEN Yiping, WANG Jian

2018, 33(4):  353-358.  DOI: 10.3969/j.issn.1673-8640.2018.04.018

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Objective Molecular diagnosis was performed for 2 suspected cases of Sotos syndrome. To seek the cause of disease and make a definite clinical diagnosis,and to analyze the relationship between genotype and phenotype. Methods Totally,2 children came from the Medical Genetics Department of Shanghai Children's Medical Center,who mainly presented overgrowth,developmental delay,macrocephaly and typical facial appearance. They accepted chromosomal microarray analysis and gene panel test,respectively. Literature review was performed to get to know the relationship between genotype and phenotype. Results A heterozygous microdeletion of 1 907 kb in 5q35.2-q35.3 was found in 1 case by chromosomal microarray analysis,which contained NSD1 gene. This case was confirmed as Sotos syndrome of 5q35 microdeletion. Another case showed a heterozygous nonsense mutation of c.1262G>A,p.Trp421* in NSD1 gene. This case was diagnosed as Sotos syndrome of NSD1 intragenic mutation. Pooled analysis about the features of genotype and phenotype was performed in all 5 inland Chinese cases,which helped us with understanding the relationship between genotype and phenotype. Conclusions NSD1 gene variation causes Sotos syndrome. There is a high relationship between the variety of clinical features and the heterogeneity of NSD1 gene alteration. Gene tests are useful to improve the rate of clinical diagnosis for such rare genetic disease.

Research progress on the molecular biology of primary angle-closure glaucoma

WAN Yani, CAO Wenjun

2018, 33(4):  359-364.  DOI: 10.3969/j.issn.1673-8640.2018.04.019

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Primary angle-closure glaucoma（PACG） is a complex disease caused by the interaction of multiple genes and environmental factors,with strong genetic predisposition. The study of PACG-related genes can investigate the pathogenesis of PACG,and it is of significance for the early diagnosis and treatment of PACG. Genome-wide association studies（GWAS） and multicenter cooperation lead to more and more studies on susceptibility genes to PACG at home and abroad in recent years. The research background of PACG and the progress of molecular biology are reviewed,and the pathogenesis of PACG is investigated further.

Preparation and application of molybdenum disulfide field effect transistor biosensor in clinical laboratory medicine

XIE Hui, BAI Bing, SHEN Han, SUN Zhongyue, ZHANG Guojun

2018, 33(4):  365-369.  DOI: 10.3969/j.issn.1673-8640.2018.04.020

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Realizing the early diagnosis of diseases is a great challenge,and most current technologies are tedious and time-consuming,so it is necessary to find a simple and rapid diagnostic method immediately. The field effect transistor（FET） biosensor has the characteristics of rapid,inexpensive and label-free. This review introduces the method of constructing molybdenum disulfide（MoS₂） FET biosensors and its research status and development trend in clinical laboratory medicine.

Research progress in the methods for creatinine determination and the interference of common drugs on creatinine determination

WANG Zhengyin, YIN Yuan, WANG Weiling

2018, 33(4):  370-373.  DOI: 10.3969/j.issn.1673-8640.2018.04.021

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There are various methods for the determination of serum creatinine,and the specificities and anti-interference performance of methods are different. The determinations of serum creatinine in different clinical laboratories have biases. The interference of common drugs on creatinine determination has been drawn more and more attention. Many commonly-used drugs can lead to false results on creatinine determination. The interference directions vary from different methods of creatinine determination. The methods for creatinine determination and the interference of common drugs on creatinine determination are reviewed.