目的 分析无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法 选取2016年4月—2018年3月在我院接受无创产前基因检测的3 759例孕妇作为研究对象,利用二代测序AR550平台结合生物信息学进行无创产前基因检测,NIPT 的检测范围包括21、18、13 及性染色体非整倍体。对 NIPT 高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果 3759例孕妇中NIPT提示高风险27例,阳性率为0.71%。其中24例孕妇行染色体核型分析,确诊为 21-三体14例、18-三体1例、13-三体1例和性染色体数目异常4例,阳性预测值分别为100%、50%、100%和66.7%。其中NT增厚中无创孕妇99例,检出高风险为5例,检出率为5.05%（5/99）,明显高于总体检出率。结论 NIPT 对 21-三体和 18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值.

Objective To analyze the efficiency and clinical value of noninvasive prenatal gene test (NIPT) in the diagnosis of fetal chromosomal aneuploidy. Methods From April 2016 to March 2018, 3 759 pregnant women who underwent noninvasive prenatal gene testing in our hospital were selected as subjects. The second generation sequencing AR550 platform combined with bioinformatics was used for noninvasive prenatal gene testing. The NIPT detection ranged from 21, 18, 13 to sex chromosome aneuploidy. For pregnant women at high risk of NIPT, amniotic fluid or umbilical cord blood puncture karyotype analysis was recommended to compare the consistency of the two results, and follow-up pregnancy outcomes. Results Among 3 759 pregnant women, NIPT showed 27 cases of high risk, with a positive rate of 0.71%. Twenty-four pregnant women were diagnosed as 21-trisomy in 14 cases, 18-trisomy in 1 case, 13-trisomy in 1 case and abnormal sex chromosome number in 4 cases. The positive predictive values were 100%, 50%, 100% and 66.7% respectively. Among them, 99 cases were non-invasive pregnant women with NT thickening, and 5 cases were at high risk of detection. The detection rate was 5.05% (5/99), which was higher than the overall detection rate. Conclusion NIPT has high sensitivity and specificity to 21-trisomy and 18-trisomy, can improve the efficiency of prenatal screening and diagnosis, and has good clinical application value.

目的 不同通道下的经皮肾镜取石术肾盂压力监测治疗鹿角形肾结石的临床分析。方法 选取我院2016年1月–2017年12月收治的鹿角形肾结石患者120例,通过随机分组,分别采用16F、18F、20F、22F、24F 作为手术通道,在气管插管全麻下置入8/9.8F 输尿管镜行经皮肾镜气压弹道碎石取石术,行经皮肾镜取石术,术中通过监测输尿管导管的压力,即肾盂内压并记录。测压系统每秒钟采集一次数据并录入数据库。观察不同通道下肾盂内压力以及取石速度。结果 在24F通道下肾盂内压力最低,与其他通道组进行比较,差异有统计学意义（P<0.05）;肾盂内压力大于40 cmH₂O时在24F通道下取石速度最短,与其他通道组进行比较,差异有统计学意义（P<0.05）;24F通道与22F通道下取石速度最快,与其他通道组进行比较,差异有统计学意义（P<0.05）。结论 肾盂内压监测使经皮肾镜取石术更加安全和精确,值得临床进一步推广应用。

Objective To investigate the pyelolithic pressure monitoring in percutaneous nephrolithotomy of different channel in treatment of renal staghorn calculi. Methods 120 patients of staghorn renal calculi in our hospital were selected from January 2016 to December 2017. These patients were randomly divided into 5 groups according to the operation channel（16F,18F,20f,22F,24F）. During operation,renal pelvis,ureter catheter pressure and operation time were recorded. Results The lowest renal pelvis pressure could be found in the 24F channel and the difference was statistically significant（P<0.05）. The lowest operation time could be found in the condition of the renal pelvis pressure of more than 40cmH₂O and 24F channel（P<0.05）. Beside of this, the fastest stone-free rate could be found in 22F and 24F channel（P<0.05）. Conclusion Monitoring of renal pelvic pressure makes percutaneous nephroscopic surgery more accurate and safety. It is worthy of clinical application.

目的 为科学合理的测算公立医院人员编制以及编制管理改革提供参考。方法 对各省市公立医院机构编制标准以及相关文献进行系统分析,系统总结编制影响因素以及编制测算方法。结果 公立医院人员编制受多方面因素影响,而现阶段人员编制测算主要以床位数与门诊量为主要考量因素,其他因素为辅。结论 结合我国公立医院人事管理改革方向,在公立医院人员编制管理上,首先需要科学核定医院应配备人员总量,全方位考虑各影响因素,并设定一定的可伸缩区间,使医院可根据实际情况在一定范围内自主选择。

Objective To provide references for public hospital personnel calculation and personnel system reform. Methods The related standards of public hospitals in various provinces and literatures were analyzed systematically to sum up influence factors and calculation methods. Results Public hospital personnel complement is affected by various factors. At this stage that was mainly measured by the number of beds and outpatient service,and supplemented by other factors. Conclusion With the reform of personnel management in public hospitals in our country, in the management of public hospital staff, the first need to scientifically measure the total amount of personnel that hospital should be equipped with considering various factors. And to set an interval, the hospital may make an independent choice according to the actual situation.

目的 应用Synapsys人体姿势平衡系统对早期帕金森病(Parkinson's disease, PD)患者姿势障碍定量测试评价效果分析。方法 收集我院神经内科2015年7月-2016年7月收治的早期PD患者52例,随机分为试验组和对照组,每组26例。两组患者均给予常规治疗措施,试验组在常规治疗基础上给予康复治疗措施,最后两组均使用Synapsys人体姿势平衡系统和Berg平衡量表对患者进行评估和训练,观察测试结果。结果 干预前动态和静态异常比例组间差异无统计学意义(P>0.05);干预后试验组动态和静态异常分别为34.62%、30.77%,低于对照组的69.23%、73.08%,差异有统计学意义(P<0.05);干预前Berg平衡量表评分组间差异无统计学意义(P>0.05),干预后试验组评分高于对照组,差异有统计学意义(P<0.05);干预后两组Berg平衡量表评分均升高,其中试验组干预前后比较差异有统计学意义(P<0.05)。结论 应用Synapsys人体姿势平衡系统对早期PD患者姿势障碍准确定量测试,以评价康复效果,并且对于康复治疗具有重要作用。

Objective To analyze the clinical effects of quantitative test on early Parkinson's patients who suffering in postural disorders by using synapsys posturography system (SPS). Methods 52 cases of early Parkinson's patients who treated in our department of neurology from July 2015 to July 2016 were collected and divided into experimental and control groups randomly, 26 cases in each group. During the treatment, cases in experimental group and control group received the same conventional treatments. Meanwhile, on the base of conventional treatments, the cases in experimental group also received recovery therapy. Finally, the clinical effects of different treatments in two groups were evaluated by using SPS and Berg balance scale (BBS). Results Before intervention, the dynamic and static abnormal proportion between two groups had no significant difference (P>0.05); However, after the intervention, dynamic and static abnormal proportion in experimental group were 34.62%、30.77%, respectively, which was lower than those in control group (Dynamic: 69.23%; Static:73.08%), and the difference was significant (P<0.05); In addition, the result of BBS showed there was no difference between the experimental group and control group before intervention (P>0.05), while the scores of BBS in experimental group was higher than that in control group after intervention, and the difference was significant (P<0.05); At the same time, the scores of BBS in each group were both increased after the intervention, especially in the experimental group, and the difference in experimental group was significant (P<0.05). Conclusion The quantitative test on early Parkinson's patients who suffering in postural disorders can perform accurately by using synapsys posturography system. And the synapsys posturography system can also evaluate the recovery effects, which is important for the recovery treatment.

目的 研究添加与不加甲苯对24 h尿微量总蛋白(MPr)和尿微量白蛋白(UMA)定量测定的影响。方法 收集各个浓度段门诊及住院病人的新鲜随机尿共82份,检测即刻与在低、中、高温度条件下,加和不加甲苯保存24 h后尿液MPr和UMA的浓度,通过配对t检验方法检验差异有无统计学意义。结果 即刻尿MPr的值与低中温条件下、有无甲苯的24 h尿MPr的检测值比较,差异均无统计学意义(P＞0.05),但与在高温条件有无甲苯检测值比较,差异均有统计学意义(P＜0.05);即刻尿UMA的值与低中温条件下、有无甲苯的24 h尿UMA检测值比较,差异均无统计学意义(P＞0.05),与高温条件下有无甲苯检测值相比,差异均有统计学意义(P＜0.05);同一温度保存24 h,得到尿MPr、尿UMA的检测值,有无甲苯的检测结果比较,差异均无统计学意义(P＞0.05)。结论 实验证明甲苯在24h尿MPr与尿UMA的定量检测中无使用的必要性。

Objective To investigate the effect of toluene in the quantitative detection of 24 hour(24 h) urine micro protein(MPr) and urine micro albumin(UMA). Methods Eighty-two random urine of the patients with different concentrations were collected.The group without toluene and the other group with toluene were stored at the low, medium and high tempreture for 24 h respectively. Then MPr and UMA were measured in 0 h and 24 h. Paired t-test was used to test whether the difference was statisticallysignificant. Results When stored at the low and medium temperature,the results of immediate detection of MPr and UMA were compared with those of the addition of toluene or without for 24 h. The difference was not statistically significant (P>0.05). However, there was significant difference in MPr and UMA value of urine at high temperature under the same comparison(P<0.05). Stored at the same temperature for 24 hours, the results of MPr and UMA were compared between the adding groups and the non-adding groups. The results showed that there was no significant difference between them. Conclusion The specimens for the quantitative detection of the 24 h MPr and UMA are not need to be added with toluene, and toluene in the urine is not preservatively effective.

目的 研究超声脐血流与大脑中动脉血流定量检测用于胎儿宫内窘迫的临床应用价值。方法 纳入150例住院分娩孕妇作为研究对象,其中胎儿窘迫组72例,正常对照组78例。对所有孕妇行彩色多普勒超声检查,记录脐动脉(UA)和大脑中动脉(MCA)收缩期末期最大血流速度与舒张末期血流速度比值(S/D)、阻力指数(RI)及搏动指数(PI)。采用受试者工作曲线(ROC)分析超声UA和MCA血流检测在诊断胎儿宫内窘迫中的临床应用价值。结果 胎儿窘迫组UA的S/D、RI及PI均显著高于正常对照组(P＜0.05),MCA的S/D、RI及PI均低于正常对照组(P＜0.05)。UA对预测胎儿宫内窘迫的ROC曲线显示S/D、RI及PI的敏感度为0.986、0.958及0.944,特异度为0.614、0.625及0.534。MCA对预测胎儿宫内窘迫的ROC曲线显示S/D、RI及PI的敏感度为0.897、0.924及0.892,特异度为0.712、0.657及0.684。结论 产前超声联合检测UA和MCA血流参数有助于筛查胎儿宫内窘迫,提高诊断准确性,指导临床。

Objective To study the clinical value of ultrasonic quantitative detection in blood flow and middle cerebral artery blood flow in fetal distress. Methods 150 hospitalized pregnant women were included in the study, including fetal distress group (n=72) and normal control group (n=78). Color Doppler ultrasonography was performed on all pregnant women. The maximal systolic blood flow velocity and end diastolic blood flow velocity ratio(S/D), resistance index (RI) and pulsatility index (PI) of the umbilical artery (UA) and the middle cerebral artery (MCA) were recorded. The application value of ultrasonic UA and MCA blood flow detection were analyzed by the receiver operating curve (ROC). Results The S/D, RI and PI of UA in fetal distress group were significantly higher than those in normal control group(P＜0.05). The S/D, RI and PI of MCA in fetal distress were significantly lower than those in normal control group(P＜0.05). The ROC of UA and MCA showed that S/D, RI and PI of sensitivity were[0.986,0.958,0.944 vs 0.897,0.924,0.892],the specificity were[0.614, 0.625,0.534 vs 0.712,0.657,0.684]. Conclusion The prenatal ultrasound combined detection UA and MCA blood flow parameters are helpful for screening fetal distress, improving diagnostic accuracy and guiding the clinical.

目的 通过检测结直肠癌患者血清及组织中癌胚抗原(CEA)及β₂微球蛋白(β₂MG)的表达,探讨结合两者在结直肠癌诊断中的作用。方法 对30例结直肠癌患者的血清、癌组织和癌旁组织进行CEA及β₂MG检测,设置对照组为行肠镜检查的正常健康体检者30例。分别对比CEA及β₂MG在结直肠癌中的关系,进一步对比CEA及β₂MG两者在结直肠癌在结直肠癌患者中的肿瘤大小、分期、浸润深度及转移的关系。 同时对结直肠癌及健康体检者的一般情况如性别、年龄、CEA、β₂MG、血红蛋白及白蛋白进行对比,以进一步了解CEA及β₂MG 在结直肠癌中的重要性。结果 CEA在结直肠癌患者癌组织、癌旁组织及血清中升高的比例为100%、10%、47%;β₂MG在结直肠癌患者癌组织、癌旁组织及血清升高的比例为60%、57%、23%;联合血清中CEA及β₂MG升高的比例为63%;正常对照组中的CEA升高的比例为33%,β₂MG升高的比例为67%;无论CEA还是β₂MG在结直肠癌中均有一定比例的升高,联合两者升高更明显。结论 CEA及β₂MG是恶性肿瘤特别是结直肠癌的重要指标,联合两者的检测提高结直肠癌的早期诊断。

Objective To detect the expression of carcinoembryonic antigen and β₂ microglobulin in serum and tissue of patients with colorectal cancer, and to explore their roles in the diagnosis of colorectal cancer. Methods 30 patients with colorectal cancer were examined for CEA and β₂MG in serum, cancer and para-cancer tissues, and 30 healthy persons with normal colonoscopy were selected as the control group. The expressions of CEA and β₂MG in serum and tissues were compared, and the relationship between CEA and β₂MG and tumor size, stage, depth of invasion and metastasis were analyzed. Results The increased in proportion of CEA in cancer tissue、para-carcinoma tissue and serum of colorectal cancer was 100%、10%、47%; Similarly, the increased in proportion of β₂MG was 60%、57%、23%;Combined calculation the increased in proportion ofCEA and β₂MG in serum of colorectal cancer was 63%;In the normal control, the increased in proportion of CEA was 33%;The increased in proportion of β₂MG was 67%.Both CEA and β₂MG in colorectal cancer had a certain proportion, the rise of joint both was obviously more. Conclusion CEA and β₂MG are important markers of malignancy, especially colorectal cancer. Combined detection of CEA and β₂MG can improve the early diagnosis of colorectal cancer.

目的 通过高通量测序法对多重耐药大肠埃希菌HX43进行耐药分子机制的研究。方法 用Illumina Miseq平台对HX43进行高通量测序,用Edena、RAST、ResFinder、MLST和BLAST等生物信息学工具或数据库进行数据分析,获得耐药基因相关序列数据。结果 HX43对多种临床常用抗生素均不敏感,仅对碳氢霉烯类药物敏感。对高通量测序数据的分析研究发现,该菌存在多种耐药基因,包括β-内酰胺类耐药基因3个(bla_CMY-42、bla_CTX-M-14和bla_OXA-30),氨基糖苷类耐药基因5个(aac(3)-IIa、aadA5、 strA、 strB和aac(6′)-Ib-cr),喹诺酮类耐药基因1个(aac(6′)-Ib-cr),磺胺及甲氧苄啶类耐药基因3个(sul1、sul2和dfrA17),四环素耐药基因1个(tet(B)),氯霉素耐药基因2个(catB3和cmlA1),大环内酯类耐药基因2个(erm(B)和mph(A))。对包含bla_CMY-42的contigs进行分析,发现该基因与ISEcp1插入序列、blc和sugE等基因相关联。质粒分型发现HX43携带5种不相容群的质粒。多位点序列分型(MLST)分析发现HX43属于ST3835,为国内外较少见的序列型。结论 高通量测序技术可准确获得临床菌株抗生素耐药的相关基因信息,为临床抗菌治疗提供重要的实验室数据支持。

Objective To investigate the molecular resistance mechanism of Escherichia coli HX43 by high-throughput sequencing. Methods HX43 was sequenced by the Illumina Miseq platform, and sequencing data were analyzed by the Edena, RAST, ResFinder, MLST and BLAST softwares and databases. Results HX43 was resistant to most common clinical antibiotics except carbapenems. Analysis of data revealed resistance genes to β-lactams (bla_CMY-42, bla_CTX-M-14 and bla_OXA-30), aminoglycosides (aac(3)-IIa, aadA5, strA, strB and aac(6′)-Ib-cr), quinolones (aac(6′)-Ib-cr), trimethoprim/sulfonamides(sul1, sul2 and dfrA17), tetracyclines (tet(B)), chloramphenicol (catB3 and cmlA1), macrolides(erm(B) and mph(A)). Sequence analysis of the contig containing bla_CMY-42 identified correlations of the gene with ISEcp1 insertion sequences, blc and sugE genes. Plasmid typing identified 5 plasmid incompatibility groups in HX43. MLST analysis found that HX43 belonged to ST3835, a relatively rare sequence type in the world. Conclusion Information of resistance genes can be obtained by high-throughput sequencing, which provides important experimental data for clinical antimicrobial treatment.

目的 研究EGFR基因突变与系列肿瘤标志物在160例原发性肺癌患者及51例肺部良性占位病变患者中的表达状况,为肺部占位病变的诊断、鉴别诊断和治疗提供参考依据。方法 160例肺癌患者取新鲜病理组织标本,采用扩增阻滞突变系统荧光PCR(ARMS-PCR)技术检测EGER基因突变;160例肺癌患者和51例良性占位病变患者取外周静脉血用化学发光法检测系列肿瘤标志物,用χ²检验统计分析数据。结果 160例肺癌病例中,EGFR基因野生型比率为47.56%(78/164),EGFR基因突变型比率为52.44%(86/164),突变型中21L858R点突变占23.17%(38/164),19Del缺失突变占22.56%(37/164)。肺癌组中系列肿瘤标志物较良性占位组具显著高表达,P＜0.01。差异有统计学意义。结论 肺癌致病与EGFR基因突变、肿瘤标志物高表达有显著正相关,通过肿瘤标志物和EGFR基因突变检测,结合影像学检查,将有助于肺部占位病变诊断和鉴别诊断,并为治疗手段选择提供参考依据。

Objective To research EGFR gene mutation and series of tumor markers expression in 160 patients with primary lung cancer and 51 patients with lung benign placeholder lesions, provide some references for the diagnosis, differential diagnosis and treatment in lung placeholder lesions. Methods We took fresh pathological tissue specimens from 160 cases of patients with lung cancer, Then used ARMS PCR technique to detect EGER gene mutations. We took the peripheral venous blood in 160 patients with lung cancer and 51 patients with lung benign placeholder lesions, with chemiluminescence method to detect series of tumor markers,and used thechi-square test to statistic and analysis data. Results In 160 cases of lung cancer patients,The EGFR gene wild type rate was 47.56%(78/164).The EGFR gene mutation type rate was 52.44%(86/164).In EGFR gene mutation type,The proportion of 21L858R mutation was 23.17%(38/164),19del mutation was 22.56%(37/164). Series of tumor markers had significantly higher expression in lung cancer group than in benign placeholder lesions group. P＜0.01.The difference was statistically significant. Conclusion Lung cancer pathogenesis and EGFR gene mutations, tumor markers high expression was significantly positive correlation. Through a series of tumor markers and EGFR mutation testing, combined with imaging examination, it will contribute to the diagnosis and differential diagnosis in lung placeholder lesions, and provide the basis for treatment.

目的 研究鳞癌抗原(SCC-Ag)的表达对宫颈癌手术治疗后临床转归的预测价值。方法 选取我院2014年4月—2015年9月实施宫颈癌手术的患者52例,分别于手术前后分析所有患者的鳞癌抗原表达,对患者进行1年的随访,以发生癌细胞转移、复发或死亡为研究终点,比较预后良好的患者与预后差的患者鳞癌抗原的表达的不同。结果 Ia、Ib1、Ib2、IIa、IIb期宫颈癌患者术后SCC-Ag水平较手术前均显著降低(P＜0.05);纳入本次研究的患者宫颈癌术后复发或转移发生率为15.38%,转归良好的患者为84.62%,预后良好的患者术后SCC-Ag水平(0.91±0.27)ng/mL较发生复发或转移的患者(1.37±0.57)ng/ml显著较较低(P＜0.05)。结论 宫颈癌患者术后血清SCC-Ag水平与肿瘤的应答之间具有关联性,术后SCC-Ag水平高的患者复发与转移发生率显著高于SCC-Ag水平低的患者,鳞癌抗原的表达对宫颈癌手术后患者的转归情况具有预测价值,临床应予以重视。