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 探讨超声引导下经皮肺穿刺活检术在艾滋病周围型肺部病变中的应用价值。方法 我院52例经皮肺穿刺活检的病例,术前均采用高效抗逆转录病毒治疗,依据CD4⁺T淋巴细胞确定是否手术,术中规范手术方式,做好防护措施,27例行超声引导穿刺,25例行CT引导穿刺,术后应用抗生素预防机会性感染等。结果 所有患者穿刺成功率100%,超声组肺结核13例,真菌感染67例,细菌感染4例,肺腺样囊性癌2例、卡波西肉瘤1例。CT组肺结核11例,真菌感染7例,细菌感染5例,肺腺样囊性癌1例。术后并发症:超声组5例病灶少量气胸,2例周围少量出血,咯血4例;CT组8例病灶少量气胸,4例周围少量出血,咯血7例。结论 经过术前控制患者计数及预防感染治疗,超声引导下经皮肺穿刺活检术在艾滋病周围型肺部病变中应用更为安全、有效、可行的,值得临床应用及推广。

Objective Objective to investigate the value of ultrasound-guided percutaneous lung biopsy in the diagnosis of peripheral lung lesions in AIDS patients. Methods 52 cases in our hospital of percutaneous pulmonary biopsy cases, preoperative highly active antiretroviral therapy was used, basis of CD4⁺T lymphocytes count determined whether the operation were performed, standard operation mode in the operation. It must to take good protective measures. 27 cases underwent ultrasound guided puncture, 25 cases underwent CT guided puncture and had postoperative application of antibiotics to prevent opportunistic infections. Results The successful rate of puncture was 100% in all patients. Tuberculosis in the ultrasound group was 13 cases, fungal infection was 67 cases, bacterial infection was 4 cases, pulmonary adenoid cystic carcinoma was 2 cases, and Posey's sarcoma was 1 cases. There were 11 cases of pulmonary tuberculosis in CT group, 7 cases in fungal infection, 5 cases in bacterial infection, and 1 cases in adenoid cystic carcinoma of the lung. Postoperative complications included: 5 cases of small pneumothorax in the ultrasound group, a small amount of bleeding around the surrounding, hemoptysis in 4 cases, CT group of patients with 8 cases of a small amount of pneumothorax in the lesions, 4 cases of a small amount of bleeding around the case, 7 cases of hemoptysis. Conclusion After preoperative control count and prevention of infection in patients with treatment, ultrasound guided percutaneous lung biopsy in peripheral pulmonary lesions of AIDS is more safe and effective, worthy of clinical application and promotion.

目的 探讨动力髋螺钉(dynamic hip screws,DHS)内固定与股骨近端解剖钢板在不同类型股骨粗隆间骨折中的应用价值。方法 研究对象取自于我院2013年11月—2014年11月收治的76例不同类型股骨粗隆间骨折患者,按随机数字表法分为对照组与观察组。对照组采用DHS内固定治疗;观察组用股骨近端解剖钢板治疗。统计两组患者手术时间等手术指标,记录并发症发生情况,随访6个月调查患者骨折愈合优良率。结果 观察组手术时间、术中出血量及术中输血量[(83.6±13.8)min、(236.5±27.3)mL和(208.3±86.6)mL]均优于对照组(P<0.05);较对照组,观察组术后并发症发生率13.2%低,骨折愈合优良率81.5%高,两组比较差异有统计学意义(P<0.05)。结论 为确保获得理想治疗效果,临床应结合股骨粗隆间骨折患者的骨折类型选择合适方法。股骨近端解剖钢板手术时间短、术中出血量少,术后并发症发生率低,优势更明显。

目的 探讨彩色多普勒超声在无精子症患者睾丸穿刺活检中的应用价值。方法 回顾性分析2012年11月—2015年2月在我科诊断为无精子症的53例患者的病例资料。所有患者进行常规阴囊超声检查,采用频谱多普勒检测睾丸动脉(TA)、睾丸内动脉(ITA)的收缩期最大速度(PSV)、舒张末期速度(EDV)和阻力指数(RI)。采用彩色多普勒超声观察睾丸内的血管分布及其数目,并进行半定量评分。所有患者进行睾丸穿刺活检并进行Johnsen评分。结果 47例患者诊断为梗阻性无精子症(OA),6例患者诊断为非梗阻性无精子症(NOA)。0A组睾丸的平均体积(15.3±3.6) mL,NOA组睾丸的平均体积(7.1±2.8) mL,差异有统计学意义(P＜0.01);OA组与NOA组患者睾丸的血流参数(PSV、EDV、RI) 结果有统计学意义(P＜0.05);OA组与NOA组睾丸内血管半定量分级有的差异,其差异有统计学意义(P＜0.01)。结论 彩色多普勒超声检查对睾丸生精功能有很好的预测作用,可作为鉴别OA患者和NOA患者的指标。

Objective To explore the application value of color Doppler ultrasound in patients with azoospermia who underwent testicular needle biopsy. Methods Retrospective analysed the clinical data of 53 cases patients with azoospermia from 2012 November to 2015 February in our department.All patients underwent routine scrotal ultrasonography, to detecte the peak systolic velocity (PSV), end diastolic velocity (EDV) and resistance index (RI) of testicular artery (TA)and intratesticular artery (ITA)with spectral Doppler ultrasound. Color Doppler ultrasound was used to observe the distribution and the number of blood vessels in the testicle, and semi quantitative score. All patients underwent testicular biopsy and Johnsen score. Results 47 patients were diagnosed as obstructive azoospermia(OA), 6 patients were diagnosed as non obstructive azoospermia(NOA). The average volume of testis was (15.3±3.6)mL in 0A group. The average volume of testis was (7.1±2.8) mL in N0A group.There was significant difference (P<0.01). The blood flow parameters(PSV, EDV, RI) results between OA group and NOA group have obvious difference,the difference was statistically significant (P<0.05). The semi quantitative classification of testicular vessels between OA group and NOA group have obvious difference,the difference was statistically significant (P< 0.01). Conclusion Color Doppler ultrasound is a good predictor of testicular spermatogenic function, can be used as the identification index of patients with OA and patients with NOA.

目的 探讨胸腰椎爆裂性骨折(TLBF)应用经伤椎椎弓根钉固定结合经椎弓根植骨治疗的临床效果。方法 选取我院2013年7月—2016年7月收治的28例TLBF患者,均行经伤椎椎弓根钉固定结合经椎弓根植骨治疗。详细记录所有患者术中出血量、手术时间及住院时间等围术期情况;比较28例患者手术前后影像学指标、腰背部疼痛视觉模拟评分法(VAS)评分及Frankel分级;随访期间并发症情况。结果 与术前相比,28例患者术后1个月、3个月时的椎体前后缘高度、Cobb角及VAS评分,均更优(P<0.01);经Ridit分析知,28例患者术后6个月时Frankel分级显著优于术前(P<0.01);术后随访6个月期间内,未见内固定松动、断裂等情况,且并未发生因椎弓根植骨而引起的神经症状。结论 TLBF应用经伤椎椎弓根钉固定结合经椎弓根植骨治疗能有效复原与保持脊柱生物力学稳定性,矫正后凸畸形,减少患者术后痛苦与并发症,改善神经功能,安全可靠,具有较高临床推广价值。

Objective To investigate the effects of the pedicle screw fixation combined with pedicle bone graft in treatment of thoracolumbar burst fracture(TLBF). Methods Selected 28 patients with TLBF treated in our hospital from July, 2013 to July, 2016, all of whom were treated with the pedicle screw fixation combined with pedicle screw fixation in the treatment of vertebral pedicle screw fixation. Recorded all patients' detailed situations on preoperative period of bleeding volume, operation time and length of stays. Compared 28 patients' imaging parameters, back pain visual analogue scale (VAS) score and Frankel classification before and after operation. And to observe the complications during follow-up as well. Results Compared with the pre-operation, 28 patients' anterior and posterior margin height, Cobb angle and VAS score were significantly better (P<0.01) than that of one month and three months after the operation. According to the Ridit analysis, six months after the operation, 28 patients' Frankel classification was better than that of pre-operation (P<0.01). No internal fixation loosening or breakage was found during the follow-up period of 6 months, and there was no nerve symptoms caused by pedicle screw fixation. Conclusion The pedicle screw fixation combined with pedicle screw fixation in treatment of thoracolumbar burst fracture(TLBF) can effectively restore and maintain the biomechanical stability of the spine, correct kyphosis, reduce postoperative pain and complications, improve nerve function and be safe and reliable,have higher clinical value.

目的 通过B超检查,掌握九龙镇农村已婚育龄妇女常见病的患病情况,总结和分析B超在普查中的应用价值。方法 对自愿参加普查的2775名20~59岁九龙镇育龄妇女进行子宫、附件的常规B超检查,对检出的妇科疾病进行统计分析。结果 在普查中检出多种妇科疾病,前三位的是子宫肌瘤、宫颈囊肿及附件包块;年龄段分布情况中,40~49岁居首位、30~39岁次之。结论 定期对农村育龄妇女进行B超普查是早期发现、早期诊断妇科病最简便、最有效的检查方法,在临床中具有重要的应用价值。

目的 探讨血浆D-二聚体及纤维蛋白原在社区获得性肺炎患者严重程度评估的应用价值。方法 收集110例社区获得性肺炎患者的临床资料,根据CURB-65评分标准对患者进行分组,分别测定患者血浆D-二聚体及纤维蛋白原水平,比较其在不同分组间的差异及通过ROC曲线了解其在重症社区获得性肺炎诊断中的价值。结果 不同CURB-65分组间D-二聚体、纤维蛋白原水平比较差异有统计学意义(P<0.05),重症肺炎组D-二聚体、纤维蛋白原水平明显高于非重症肺炎组(P<0.05)。ROC曲线显示入院D-二聚体、纤维蛋白原水平诊断重症肺炎曲线下面积(AUC)分别为0.815、0.777。结论 血浆D-二聚体及纤维蛋白原可以有效评估社区获得性肺炎患者病情的严重程度,其是诊断重症肺炎的一个良好指标。

Objective To evaluate the prediction and evaluation of plasma D-dimer and fibrinogen levels upon the severity of community acquired pneumonia(CAP). Methods Clinical variables of 180 patients with CAP were evaluated and divided into different groups by CURB65.Plasma D-dimer and fibrinogen were measured to compare their levels among different groups and evaluate the prediction in the diagnosis of the severe CAP by ROC curve. Results The mean D-dimer and fibrinogen level were different significantly among different CURB65 groups. D-dimer and fibrinogen level of severe CAP were significantly higher than non-serious pnrumonia group. The area under the curve of the D-dimer, fibrinogen in the diagnosis of severe pneumonia were 0.815, 0.777. Conclusion Plasma D-dimer and fibrinogen can effectively evaluate the severity of illness in patients with community acquired pneumonia and they could be useful for assessment of the severity of CAP.

目的 研究乳管镜在乳头溢液的诊断中的应用价值。方法 回顾性分析2010年2月－2014年3月采用乳管镜检查的123例乳头溢液患者的临床资料。结果 乳管镜检查发现乳腺导管癌8例,导管内乳头状瘤33例,乳头状瘤病32例,导管扩张及炎症35例。术后病理检查证实乳腺导管癌5例,导管内乳头状瘤35例,乳头状瘤病30例,导管扩张及炎症33例。结论 乳管镜可作为诊治乳头溢液的首选措施,其所起到的作用是超声、钼靶及乳管造影所不及的。

Objective To study the clinical application value of the fiberoptic ductoscopy(FDS) on the diagnosis of nipple discharge. Methods A retrospective analysis of 123 patients with nipple discharge undergoing FDS from February 2010 to March 2014. Results After fiberoptic ductoscopy examination,it was found there were 8 cases of breast cancer,33 cases of intra-duct papilloma,35 cases of papillomatosis,35 cases of dilatation and inflammation. However there were 5 cases of breast cancer,35 cases of intra-duct papilloma,30 cases of papillomatosis, and 33 cases of dilatation and inflammation were comfirmed through postoperative pathological examination. Conclusion Fiberoptic ductoscopy is more effective than B-ultrasonography and Mo-traget mammography, so it can be the preferred method of diagnosis and treatment for nipple discharge.

目的 探讨二维超声联合三维超声检测不同孕期胎儿肢体畸形的临床价值。方法 回顾性分析我科2013年1月—2015年1月超声筛查的1352名孕15~34周的孕妇,运用二维及三维超声,采用连续顺序追踪超声法检测胎儿四肢,将产前诊断结果与引产或引产结果对照。结果 1352名孕妇胎儿畸形46例(3.40%,46/1352),总涉及肢体73处(近端肢体畸形65处,远端肢体畸形8处),其中四肢短小9例(骨发育不全2例,单纯四肢短小畸形5例,成骨发育不全2例),漏诊2例;足畸形16例34处,漏诊1例,残肢畸形15例;手畸形6例,漏诊1例。结论 孕中期二维连续顺序追踪超声法联合三维超声胎儿肢体畸形检出率高,对及早发现胎儿肢体畸形有一定的诊断价值。