目的 探讨及比较CURB-65、PSI、SMART-COP及APACHEⅡ 4种临床评分对重症社区获得性肺炎(SCAP)患者的早期诊断价值。方法 采用前瞻性研究方法,收集2011年10月—2014年2月广州市第一人民医院呼吸内科收治的67例SCAP及同期33例普通CAP患者的临床资料,记录入组后24小时内CURB-65、PSI、SMART-COP及APACHEⅡ评分的最差值,比较4种临床评分系统对SCAP的早期诊断价值。结果 SCAP组CURB-65、PSI、SMART-COP及APACHEⅡ评分均高于普通CAP组患者[CURB-65(分):3.06±1.10 比0.85±0.79,P<0.001;PSI(分):144.93±36.48比73.94±27.17,P<0.001; SMART-COP(分):6.54±1.41比 1.67±1.02,P<0.001; APACHEⅡ(分):20.79±5.69比7.94±3.87,P<0.001]。CURB-65≥3分、PSI≥130分、SMART-COP≥3分及APACHEⅡ≥15分诊断SCAP的受试者工作特征曲线(ROC)下面积(AUC)分别为0.940[95% CI:0.89~0.98, P<0.001],0.933[95%CI:0.88~0.97,P<0.001],0.999[95%CI:0.99~1.0,P<0.001],0.976[95%CI:0.95~0.99,P<0.001],敏感度分别为65.6%、71.6%、100%、88.1%,特异度分别为100%、100%、78.7%、93.9%。结论 CURB-65及PSI评分特异度好,但敏感度低,易漏诊,SMART-COP和APACHE Ⅱ评分诊断效能更佳。

Objective To evaluate and compare the early diagnosis value of CURB-65,PSI,SMART-COP and APACHEⅡin patients with severe community-acquired pneumonia. Methods This was a prospective study conducted in department of respiratory in Guangzhou First People's Hospital. We included 67 SCAP patients and 33 CAP patients between October of 2011and February of 2014. The lowest scores within 24 hours of CURB-65 score,PSI score,SMART-COP score,APACHE Ⅱ score,respectively,for each patients were recorded. Prediction of SCAP as made in four scoring systems was compared. Results CURB-65 score,PSI score,SMART-COP score,APACHE Ⅱ score were higher in SCAP as compared with that of CAP(CURB-65:3.0±1.1 vs 0.9±0.8,P<0.001;PSI:144.6±36.4 vs 73.9±27.1,P<0.001; SMART-COP:6.5±1.4 vs 1.6±1.0,P<0.001; APACHEⅡ:20.6±5.6 vs 7.9±3.8,P<0.001). ROC curve for CURB-65 score≥ 3 scores,PSI score≥ 130 scores,SMART-COP score≥3 scores and APACHE Ⅱ score ≥ 15 scores in the early diagnosis SCAP were 0.940[95%CI:0.89~0.98,P<0.001],0.933[95%CI:0.88~0.97,P<0.001],0.999[95%CI:0.99~1.0,P<0.001],0.976[95%CI:0.95~0.99,P<0.001]. Sensitivity of four kinds of scoring system was 65.6%,71.6%,100%,88.1%, with specificity of 100%,100%,78.7%,93.9% respectively. Conclusion The specificity of diagnosis was better in the CURB-65 and PSI score,but the sensitivity was low and easy to miss diagnosis. SMART-COP and APACHEⅡscore systems had a better diagnostic value on SCAP.

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 探究彩色多普勒超声在乳腺良恶性肿瘤鉴别诊断中的应用价值。方法 抽取2012年2月—2016年6月我院门诊、社区普查中的病例中选取符合研究标准的298例乳腺肿瘤疾病患者,所有患者均行彩色多普勒超声检查。通过SPSS 19.0软件对数据进行分析,以病理检查结果作金标准,分析彩色多普勒超声诊断结果,对比良性肿瘤与恶性肿瘤血流分级情况及良性肿瘤与恶性肿瘤收缩期流速峰值(PSV)及(阻力指数)RI水平。结果 经病理检查证实,298例患者中恶性肿瘤32例,良性肿瘤266例;超声诊断恶性肿瘤42例,良性肿瘤256例;超声诊断灵敏度为93.75%(30/32)、特异度为95.49%(254/266)、准确度为95.30%(284/298)。良性肿瘤血流信号检出率为55.26%(147/266),恶性肿瘤血流信号检出率为96.87%(31/32),其中良性肿瘤以0～I级血流为主,为83.83%(223/266),恶性肿瘤以I～III级血流为主,为96.87%(31/32),各分级情况对比,差异有统计学意义(P＜0.05)。恶性肿瘤PSV(20.11±6.76)cm/s、RI(0.65±0.07)均明显高于良性肿瘤[(15.30±9.21)cm/s、(0.56±0.09)],差异有统计学意义(P＜0.05)。结论 彩色多普勒超声在乳腺良恶性肿瘤临床鉴别诊断中具有较高准确度、特异度及灵敏度,可结合血流分级和RI水平提高乳腺良恶性肿瘤鉴别准确度。

目的 探讨呼出气体中丙酮能否用于糖尿病肾病的早期诊断。方法 对健康对照组、2型糖尿病组(T2MD)和糖尿病肾病组(DN)分别采用气相色谱-质谱(GC-MS)法测定呼气丙酮含量、全自动生化仪的乳胶透射免疫比浊法测定尿微量白蛋白、酶速率法测试β-羟丁酸以及全自动尿液分析仪干化学法测定尿酮体,并对上述结果进行分析。结果 在T2MD组和DN组中呼气中的丙酮含量均高于健康对照组(P<0.01);在DN组,丙酮与尿微量白蛋白水平呈线性相关(r=0.79,P<0.05)。结论 检测呼气中的丙酮有助于糖尿病肾病的早期诊断,能及时反映病人肾脏损伤情况。

Objective To explore the early diagnosis of diabetic nephropathy by exhaled acetone. Methods Respectively using GC-MS method for the determination of exhaled acetone content, emulsion transmission turbidimetric immunoassay method in automatic biochemical analyzer for determination of urinary microalbumin, enzyme rate method for testing β-hydroxybutyric acidand and dry chemical method in urine automatic analyzer for determination of urine ketone on healthy control group, type-2 diabetes mellitus group(T2MD), and diabetic nephropathy group(DN), and the above results were analyzed. Results The exhale acetone level in T2MD and DN groups were higher than those in control group(P<0.01); In DN group, the level of exhale acetone with urinary microalbumin had a linear correlation. Conclusion The detection of exhale acetone is helpful to early diagnosis in diabetic nephropathy, also may reflect the renal injury promptly.

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 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 探讨小肠出血的诊断策略。方法 回顾性分析我院2010年1月— 2015年6月收治的42例小肠出血病例的诊治经历。结果 42例患者中肿瘤15例(35.7% );血管发育不良和畸形10例(23.8%);炎性肠病9例(21.4%),憩室7例(16.7%),原因不明1例(2.4%)。气钡双重造影阳性率11.8%;B超检查阳性率15%;核素扫描阳性率44.4%;CT检查阳性率46.7%;血管造影阳性率50%,小肠镜检查阳性率58.9%;胶囊内镜阳性率61.5%;术中肠镜检查阳性率88.9%。结论 小肠出血病因多样,检查缺乏特异性;隐性出血者可选择CT或胶囊内镜,结果阳性者进一步可行小肠镜检查或治疗;活动性出血患者选择ECT或DSA,手术探查或术中肠镜是最后选择。

Objective To investigate the diagnosis of small intestinal haemorrhage. Methods The diagnosis and treatment of 42 cases of small intestinal haemorrhage between January 2010 and June 2015 were analyzed retrospectively. Results Among the patients, small bowel tumors were found in 15 cases,angiodysplasia in 10,inflammation disease in 9,diverticulum in 7 and obscure bleeding in 1 each. Positive rate of diagnostic methods was followed:enteroclysis 11.7％,B-ultrasound 15%, ECT 44.5%,CT 46.7％,DSA 50%, device-assisted enteroscopy 58.9％, capsule endoscopy 61.5%,enteroscope examination during operation 88.9%. Conclusion There are various etiological factors and lack of specificity in small intestinal haemorrhage. Capsule endoscopy or CT should be used first if the patient had occult bleeding, positive patients were suggested to taken enteroscopy. ECT and DSA must be applicable for active bleeding or other positive patients. Operation or enteroscope examination during operation could be the last measure.

目的 探究S100B蛋白、神经元特异性烯醇化酶与新生儿低血糖脑损伤的诊治相关性。方法 收集2014年1月—2016年12月来我院就诊出现低血糖脑损伤的新生儿116例,设为患病组,首先根据临床表现,分为两组,有低血糖症状组(n=54)和无低血糖症状组(n=62)。两组患儿均给予常规药物治疗,有效患者82例,为有效组,无效患者34例,为无效组。同期收集健康足月的新生儿53例,为健康对照组。患儿均于治疗前、后检测血清S100B蛋白、神经元特异性烯醇化酶水平,健康对照组新生儿也于同一时间点进行相同检测。观察各组新生儿血清S100B蛋白、神经元特异性烯醇化酶水平变化,并探究其水平变化与诊断及治疗效果的相关性。结果 低血糖症状组和无低血糖症状组患儿的血糖水平均低于和健康对照组(P<0.05);低血糖症状组患儿的低血糖扶持续时间高于无低血糖症状组(P<0.05)治疗后,各组的NSE和S100B的蛋白水平差异无统计学意义(P>0.05)。患儿血清NSE和S100B与血糖水平呈负相关(r=-0.131、-0.124、P<0.05),与低血糖持续时间呈正相关(r=0.135、0.129,P<0.05)。结论 血清NSE及S100B与患儿血糖水平相关,可作为新生儿低血糖脑损伤的早期诊断指标。血清NSE及S100B水平与治疗效果存在相关性并为负相关,血清水平越低,患者治疗效果越好。

目的 回顾性分析常规放射检查中儿童胸部复合型骨折漏诊的原因,并且探讨多层螺旋CT后处理技术在儿童胸部复合型骨折中的诊断价值。方法 搜集本院2012年1月—2015年8月间因外伤行胸部照片和CT扫描的外伤患儿共123例,男81例,女42例,年龄9个月～15岁,平均年龄4.3岁。所有病例在完成胸部照片后1~3 d,进行胸部容积CT扫描,并对数据进行三维重建后处理,其结果与常规DR检查结果相比较。结果 在123例患儿中,常规胸部DR片显示明确胸部骨折39例61处,其中胸部单纯性骨折24例,胸部复合型骨折15例。可疑骨折48例;36例未见明确骨折但存在胸部合并症。CT检查显示明确的胸部骨折76例,142处,其中胸部单纯性骨折42例,胸部复合型骨折34例。与胸部DR平片相比,CT显示胸部新增骨折有18处在单纯性骨折病例中,63处在复合型骨折病例中。CT重建技术对复合型骨折的检出率高于DR平片,差异有统计学意义(P＜0.05)。结论 胸部CT容积扫描并综合运用三维重建技术处理,可以提高胸部复合型骨折的检出率,相对于常规放射照片更能提供详细和直观的信息,包括骨折部位、类型、程度以及邻近结构的损伤,并对治疗方案的选择及预后的评估有重要指导价值。

Objective To investigate the reasons for missed diagnoses of children's chest complex fractures in chest radiographs and to discuss the value of multi-slice spiral CT (MSCT) reconstruction in the diagnosis of children's chest complex fractures. Methods 123 children underwent chest digital radiography(DR) and MSCT scans after traumas were collected in our hospital between January 2012 and August 2015. This population consisted of 81 male and 42 female patients, with a mean age of 4.3 years(range from 9 months to 15 years). All participants underwent chest MSCT scans in 1-3 days after completing chest DR, and then we used 3D reconstruction to process the data and compared the results with those processed by DR. Results By chest DR tests we identified 39 cases (61 places) out of 123 participants with 24 simple fractures, 15 complex fractures. And 48 chest fractures were suspected. We also identified 36 cases had chest complications without fracture. By MSCT scans 76 cases (142 places) were identified, among which 42 were simple and 34 were complex. Compared with chest DR, MSCT scans can identified 18 more places of simple fractures and 63 more places of complex fractures. It was statistically significant higher detection rate of MSCT scan than DR. Conclusion Chest MSCT scan combined 3D reconstruction technology can increase the detection rate of chest complex fracture. Compared with DR, it provides more detailed and visualized information, including fracture position, type, severity and adjacent structure damage. It has important guiding value on the selection of therapy and prognosis evaluation.

目的 根据巨脑回畸形的病理特点,对比其它影像检查,研究该病的超声特点,探讨新生儿期巨脑回畸形的超声诊断价值。方法 对5例新生儿巨脑回畸形的患儿的超声资料进行分析。结果 5例超声检查均表现为大脑脑回明显宽大,脑沟、脑回稀少,皮层明显增厚,大脑表面光滑,且5例均伴有不同程度的其它颅脑畸形。结论 新生儿巨脑回畸形具有一定的超声特征,超声检查在新生儿巨脑回畸形的诊断中具有重要的价值。