目的 探讨二维斑点追踪成像技术（Two-dimensional speckle tracking imaging,2D-STI）检测心肌肥厚患者左心室短轴收缩功能变化的效果。方法 选择2016年1月—2018年6月我院接诊的心肌肥厚100例为观察组,选取同期在我院行健康体检的健康者100例,均接受2D-STI检查,比较两组左心室短轴收缩期圆周应变与最大径向应变参数。结果 观察组前侧壁、前壁、下壁、后侧壁、前间隔、后间隔左心室短轴收缩期最大圆周应变均低于对照组,差异有统计学意义（P<0.05）;观察组前侧壁、前壁、下壁、后侧壁、前间隔、后间隔左心室短轴收缩期最大径向应变均低于对照组,差异有统计学意义（P<0.05）。结论 2D-STI可测量心机肥厚患者左心室短轴收缩功能,准确评价其心室局部运动,值得临床推广。

Objective To investigate the effect of two-dimensional speckle tracking imaging （2D-STI） on the changes of left ventricular short-axis systolic function in patients with cardiac hypertrophy. Methods 100 cases of cardiac hypertrophy received from our hospital from January 2016 to June 2018 were selected as observation group. 100 healthy subjects who underwent physical examination in our hospital during the same period were examined by 2D-STI. The left ventricle was compared between the two groups. Short-axis systolic circumferential strain and maximum radial strain parameters were compared . Results The maximum circumferential strain of the anterior wall of the anterior wall, anterior wall, inferior wall, posterior wall, anterior septum and posterior septum of the left ventricle was lower than that of the control group, and the difference was statistically significant （P<0.05）. The maximum radial strain of the anterior wall, anterior wall, inferior wall, posterior wall, anterior septum and posterior septal left ventricle was lower than the control group, and the difference was statistically significant （P<0.05）. Conclusion 2D-STI can measure the left ventricular short-axis systolic function in patients with cardiac hypertrophy and accurately evaluate the local ventricular motion, which is worthy of clinical promotion.

目的 探讨恙虫病患者血清乳酸脱氢酶（LDH）水平在检查中的临床价值及LDH与血小板数目、丙氨酸氨基转移酶和天冬氨酸氨基转移酶的相关性。方法 选取2016年3月—2018年2月在我院就诊的60例恙虫病患者,其中男25例,女35例。记录患者的基本情况,血常规、肝肾功能等实验室检测指标;并检测患者血清中乳酸脱氢酶水平。并分析患者乳酸脱氢酶与小板数目、丙氨酸氨基转移酶和天冬氨酸氨基转移酶的相关性。结果 多数患者出现发烧、头痛、腹痛、咳嗽咳痰等症状,少数患者出现腰痛、意识障碍、皮肤黏膜出血等症状;60例恙虫病患者中,52名患者血清乳酸脱氢酶含量高于正常值,15例患者血小板数量低于正常值;55名患者丙氨酸氨基转移酶高于正常值,53名患者天冬氨酸氨基转移酶高于正常值;患者血清LDH与血小板数目（r=-0.929,P<0.01）呈负相关,与丙氨酸氨基转移酶（r=0.957,P<0.01）,天冬氨酸氨基转移酶（r=0.947,P<0.01）呈正相关。结论 乳酸脱氢酶水平可以作为患者恙虫病的早期诊断标志。

Objective To investigate the clinical value of serum LDH levels in tsutsugamushi patients. Methods We selected 60 patients with tsutsugamushi disease who were enrolled in our hospital from September 2016 to February 2018,including 25 males and 35 females. We recorded the patients' basic conditions,blood tests,liver and kidney function and other laboratory testing indicators;and we detected serum lactate dehydrogenase levels in patients. The correlations in lactate dehydrogenase and platelet number,alanine aminotransferase,and aspartate aminotransferase were analyzed. Results Most patients developed fever,headache,abdominal pain,cough,sputum,and other symptoms. A small number of patients suffered low back pain,disturbance of consciousness,skin mucosal bleeding,and other symptoms;among the 60 patients with tsutsugamushi disease,the contents of serum amblytic dehydrogenase were higher than normal in 52 patients,and the numbers of platelets in 15 patients were lower than normal. The value of alanine aminotransferase was higher than normal in 55 patients,and the value of aspartate aminotransferase was higher than normal in 53 patients;serum LDH and platelet counts （r=-0.929,P<0.01）,alanine aminotransferase （r=0.957,P<0.01） and aspartate aminotransferase （r=0.947,P<0.01） showed positive correlation. Conclusion Lactate dehydrogenase level may be used as an early diagnostic marker for patients with tsutsugamushi disease.

目的 评价血清异常凝血酶原(PIVKA-Ⅱ)检测在原发性肝癌中的诊断价值。方法 收集在我院收治的住院病人及健康体检人群血清标本共968份,其中原发性肝癌组202例,慢性乙型肝炎组385例,肝硬化组62例,脂肪肝组117例,其它消化系统疾病组93例,健康对照组109例。化学发光法分别检测标本中AFP和PIVKA-Ⅱ水平。分别以健康对照组和慢性肝病组为对照,计算AFP和PIVKA-Ⅱ单独检测和联合检测对原发性肝癌的诊断性能(敏感度、特异度、Kappa值以及ROC曲线等)。结果 原发性肝癌组血清AFP和PIVKA-Ⅱ水平均高于其他各组(P<0.05)。AFP和PIVKA-Ⅱ单独检测和联合检测诊断原发性肝癌的敏感度分别为64.36%、95.05%、97.52%;以健康组为对照,AFP和PIVKA-Ⅱ单独检测和联合检测对原发性肝癌的诊断特异度分别为97.25%、98.17%、96.33%, Kappa值分别0.910、0.917、0.937,ROC曲线下面积分别为0.908、0.987、0.992;以慢性肝病组为对照,AFP和PIVKA-Ⅱ单独检测和联合检测对原发性肝癌的诊断特异度分别为80.67%、92.38%、76.95%, Kappa值分别0.654、0.831、0.621,ROC曲线下面积分别为0.801、0.976、0.963。结论 血清PIVKA-Ⅱ在原发性肝癌的中诊断价值优于AFP,其与AFP的联合检测可提高原发性肝癌的诊断敏感度。

目的 分析KRAS基因突变在左半结肠、右半结肠癌分布几率的差异性。方法 回顾性分析我院病理科分子实验室2015年到2017年间接收的537例结肠癌手术标本,用ARMS-PCR法进行了KRAS基因的检测,并对左右半结肠腺癌KRAS基因突变比例进行χ²检验,P＜0.05为差异有统计学意义。结果 537例中有187(34.82%)例为右半结肠腺癌,左半结肠腺癌有350(65.18%)例。KRAS基因突变检测阳性例数为240例,阳性率为44.69%;右半结肠腺癌KRAS基因突变阳性数为114例,阳性率为60.96%;左半结肠癌KRAS基因突变阳性数为126例,阳性率为36.00%。双侧结肠腺癌KRAS基因突变差异有统计学意义。结论 右半结肠癌的患病例数低于左半结肠癌,右半结肠癌KRAS基因突变阳性率较左半结肠癌高,本研究为区分左右半结肠癌的分子靶向治疗提供了数据支持。

Objective To analyze the differences distribution of KRAS gene mutations in the left hemi colon cancer and right hemi colon cancer. Methods Retrospectively to analyse the 537 colorectal cancer patients who were received by our molecular laboratory of pathology from 2015 to 2017, ARMS-PCR method was used to detect the KRAS gene. The ratio of KRAS gene mutation in left and right hemi colon cancer was tested by χ² test, P<0.05 was considered statistically significant. Results There were 187(34.82%) patients with right hemi colon cancer; and there were 350 (65.18%)patients with left half hemi colon cancer. The KRAS positive patients were 240 cases, which were 44.69% in total. The positive patients with right hemi colon cancer were 114 cases which had a higher rate of 60.96%, the left hemi colon cancer patients were 126 cases with a lower rate of 36.00%. Conclusion The number of right hemi colon cancer was lower than the number of left hemi colon cancer. And the KRAS gene mutation in right hemi colon cancer had more positive than left hemi colon cancer. This study provides a number aid for treating right and left colon cancer in the subsequent molecular targeted drug therapy.

目的 通过对未进行过商业基因检测(NCGT)社区居民和直接面向消费者的基因测试(DCGT)消费群体的调查,分析市场基因测试产品的消费构成和消费者社会特征与基因检测消费的相关因素。方法 采用分层随机抽样方法对广州市居民和直接面向消费者的基因检测非患者居民进行面访式调查,采用Logistics回归分析商业基因测试的相关社会学因素。结果 NCGT社区居民中其家庭成员进行过胎儿产前筛查基因检测的比例(26.3%)较高、DCGT人群因常规健康体检包含基因检测项目而进行基因测试的比例(44.8%)最高,儿童天赋基因的测试比例(23.3%)也相对较高,两个群体均认为基因检测的目的主要是预防疾病,信任的检测机构为医院。DCGT行为相关的社会学特征有婚姻(已婚vs未婚:OR=5.591,P<0.001)、学历(专科以上vs专科及以下:OR=0.071,P<0.001)、年龄(30～49岁组vs其他组:OR=0.223,P<0.001)、工作(全职vs其他:OR=4.660,P<0.001)、公费医疗(OR=1.183,P=0.021)和商业保险(OR=2.121,P=0.004)。结论 公众将基因测试看成是预防疾病和控制遗传性疾病的公共卫生手段,需要在医院将基因检测和个性化治疗对应起来。

Objective By investigating consumer groups that have no-commercial genetic testing (NCGT) community residents and direct-to-consumers genetic testing (DCGT), to analysze the consumer composition of market genetic testing products and the factors related to consumer social characteristics. Methods A stratified random sampling method was used to conduct a face-to-face survey of residents and non-patients of genetic testing in Guangzhou residents. The logistic regression analysis was used to analyze the sociological factors of commercial genetic testing. Results The proportion of children in the NCGT community who had prenatal screening for prenatal screening (26.3%) was higher, and the proportion of DCGT populations that were genetically tested for routine health checkups containing genetic testing (44.8%) was the highest. The proportion of test genes (23.3%) is also relatively high. Both groups believe that the purpose of genetic testing is mainly to prevent diseases, and the testing institutions for their trust are hospitals. The sociological characteristics associated with DCGT behavior are marriage (married vs unmarried: OR=5.591, P<0.001), education (specialist vs. specialist and below: OR=0.071, P<0.001), age (30~49 years vs others, OR=0.223, P<0.001), work (full-time vs other: OR=4.660, P<0.001), public medical care (OR=1.183, P=0.021) and commercial insurance (OR=2.121, P=0.004). Conclusion The public regards genetic testing as a public health tool for preventing diseases and controlling hereditary diseases, and it is necessary to correlate genetic testing with personalized treatment in hospitals.

目的 分析血清过敏原检测在小儿过敏性紫癜中的临床价值。方法 本次研究对象选惠州市第一人民医院儿科以及惠州市中心人民医院儿科2015年2月—2017年3月收治的80例过敏性紫癜患儿（观察组）和同期80例健康体检儿童（对照组）。分别检测血清特异性IgE（包括食物组及吸入组）,然后进行对比分析。结果 观察组儿童食物组血清过敏原特异性IgE抗体检测阳性率为96.25%、吸入组血清过敏原特异性IgE抗体检测阳性率为85%,均高于对照组,（P<0.05）,差异有统计学意义。结论 对于过敏性紫癜患儿或其他过敏性疾病患儿可进行血清过敏原检测,从而快速、准确的找到过敏原,并在临床治疗及日常生活中加以避免,有利于疾病的治疗和预防疾病复发。

目的 分析无偿献血者丙型肝炎病毒核酸（HCV RNA）、丙型肝炎病毒抗体（抗-HCV）及丙氨酸氨基转移酶（ALT）检测结果之间的相关性。方法 采用惠州市中心血站2016年1月—2017年2月间采集的350例无偿献血者的抗-HCV阳性血液标本,应用速率法对其ALT水平进行测定;应用荧光定量聚合酶链反应（FQ-PCR）检测法对HCV RNA水平进行检测,并对抗-HCV检测中S/CO值范围进行分组,分别为A（1.0~3.79）、B（3.80~4.99）、C（≥5.00）三组,观察S/CO值与HCV RNA阳性率之间的关系,进一步反应HCV RNA与抗-HCV之间的关系。结果 350例抗-HCV阳性标本阳性率为59.14%,在350例抗-HCV阳性标本进行HCV检测中,HCV RNA阳性患者ALT检测异常率为2.41%,HCV RNA阴性患者ALT检测异常率为1.4%,差异无统计学意义（P>0.05）,HCV RNA阳性患者的ALT均值明显比HCV RNA阴性患者高（P<0.05）,A组HCV阳性率为5.26%,B组HCV阳性率为75.12%,C组HCV阳性率为56.94%,A、B组之间比较（P<0.05）,A、C组之间比较（P<0.05）,B、C组之间比较（P<0.05）,阳性患者的年龄比阴性患者高（P<0.05）,阳性患者和阴性患者的性别因素无差异（P>0.05）。结论 HCV RNA阳性率和抗-HCV中S/CO值之间存在相关性,抗-HCV阳性献血者ALT异常率和HCV RNA之间无相关性,且HCV RNA与感染献血者的年龄之间存在相关性。

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 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.