Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror-image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy-related disorders, most notably Primary Ciliary Dyskinesia (PCD). Consequently, challenges persist in the prenatal detection and subsequent genetic counseling for this condition. We present the case of a fetus diagnosed with Situs Inversus Totalis (SIT) via routine prenatal ultrasound and subsequent fetal echocardiography. Chromosomal Microarray (CMA) results were unremarkable, yet Whole Exome Sequencing (WES) revealed compound heterozygous pathogenic variants in the DNAH11 gene, inherited from each parent. Notably, no other structural malformations were detected. Following comprehensive counseling, the family opted for termination of pregnancy at 35 weeks' gestation. No postnatal examination (autopsy) was performed. This case underscores the critical role of detailed imaging, comprehensive genetic testing, and multidisciplinary team (MDT) counseling in the prenatal evaluation of Situs Inversus Totalis (SIT).

目的:分析胎儿隔离肺(PS)畸形的超声表现、染色体及其预后转归,以减少孕妇盲目终止妊娠.方法:分析16例孕妇产前超声诊断为PS的胎儿资料,并与实验室检查及对孕妇的随访结果进行对比研究,16例孕妇均随访至胎儿引产或出生.结果:产前超声诊断胎儿PS16例,病灶均为单侧;肿块内探及血供均来自体循环主动脉;肺头比(CVR)为0.02～0.60;合并消化道畸形和肺囊腺瘤畸形各1例;唐氏筛查及染色体检查结果均为低风险;随孕周增加,肿块逐渐消失9例,增大1例,无明显变化6例.结论:孕妇产前超声诊断胎儿PS畸形的准确率高,染色体正常的单纯PS畸形的胎儿预后较好,超声对及时发现和复查胎儿PS变化具有重要临床意义,可减少孕妇盲目终止妊娠.

目的:研究在前列腺穿刺活检中应用经直肠实时组织弹性成像的价值.方法:于我院2016年1月-2019年12月选出疑似前列腺癌患者198例,观察组99例开展经直肠8针系统穿刺活检加实时组织弹性成像穿刺活检,对照组99例开展12针系统性穿刺活检.结果:明显改善了观察组诊断阳性率、减少了并发症,P<0.05.结论:在前列腺穿刺活检中应用经直肠实时组织弹性成像,价值较高.

目的 探讨超声引导下心包穿刺置管引流急慢性心包积液的疗效.方法 回顾分析2009-01至2019-08医院161例行超声引导下心包穿刺置管引流术患者的临床资料,并对其病因、症状、缓解情况进行分析.结果 161例心包积液患者前三位的病因分别为肿瘤、心力衰竭、创伤或手术,经超声引导下心包穿刺置管术治疗后症状缓解率均在70％以上.结论 超声引导下心包穿刺置管引流术治疗心包积液疗效确切,可作为临床治疗心包积液特别是急性心包压塞的首选治疗方式.

OBJECTIVETo study the genotype and phenotype of fetuses with 22q11.2 microdeletion and other abnormalities such as cardiac malformation and cleft palate.METHODSFetal ultrasound was carried out at 12 weeks to 20 to 24 weeks of gestation. After excluding the chromosomal karyotype abnormality, single nucleotide polymorphism (SNP) array was used to detect copy number variations of 5 fetuses with heart development abnormality or other structural abnormalities. The fetus with 22q11.2 microdeletion and its parents were also subjected to multiplex ligation-dependent probe amplification (MLPA) assay.RESULTSSNP array analysis showed that the 5 fetuses had all carried a 2.27-3.02 Mb deletion of the 22q11.2 region. MLPA assay confirmed that LCR22-A-B was involved in all cases, and that all deletions were de novo in origin.CONCLUSIONIt is of great significance to exclude 22q11.2 microdeletions in fetuses with cardiac malformations. The deletion regions of these fetuses are similar but different, and the phenotypic difference is related to their genotypes.

目的 分析良、恶性甲状腺结节的彩色多普勒超声表现,以提高超声诊断和鉴别诊断良、恶性甲状腺结节的价值.方法 回顾性分析经手术、病理明确诊断的157个良、恶性甲状腺结节的彩色多普勒超声表现,良、恶性结节的形态、回声、钙化特点、彩色多普勒血流图血流信号分布等.结果 157个甲状腺结节经病理诊断,其中90个为良性结节,67个为恶性结节;本组病例彩色多普勒超声检查的特异性为92.2％,敏感性为80.6％,诊断符合率为87.2％;彩色多普勒超声图像显示甲状腺良、恶性结节的形态、边界、包膜、回声、血流信号分布、内部钙化情况、血流阻力指数值比较,差异比较均具有统计学意义(P<0.05).结论 彩色多普勒超声可诊断甲状腺病变,依据重要的参考指标,可评价甲状腺结节的良、恶性.

Objective To investigate the clinical value and prognosis of fetal thoracic space occupying lesions by prenatal ultrasound diagnosis. Methods From January 2012 to November 2016, routine prenatal ultrasound screening for suspected fetal pleural ultrasonography with 45 fetuses for further system lesions, focus on the observation of the fetal thorax occupying source, lesion site, lesion echo characteristics and blood supply, and observe whether fetal edema and other structural abnormalities existed. The initial detection for 20-35 weeks of gestation, pregnant women aged 22-42 years. Results Forty-five fetal pleural lesions in 13 fetuses (13/45, 28.90％) for congenital cystic adenomatoid malformation (CCAM), 10 fetuses (10/45, 22.22％) for pulmonary sequestration (PS), 11 fetuses (11/45, 24.44％) for congenital diaphragmatic hernia (CDH), 10 (10/ 45, 22.22％) for fetal pleural effusion (PE), and 1 (1/45, 2.22％) for fetal cardiac tumors. Fetal pleural lesions usually occurred on the left side, 7 fetuses PS and 5 fetuses PE lesions gradually shrink or disappear with the increase of gestational age, CDH combined with other structural and chromosomal abnormalities, and induction of CCAM was born in half, a total of 5 fetuses chromosomal abnormalities (5/45, 11.11％) screened. Conclusion Prenatal color doppler ultrasonography is of great value in the diagnosis of fetal space occupying lesions and evaluation of prognosis.

Objective To investigate the effect of optimizing protocol activity on the cardiac function in patients with hypertension.Methods One hundred and one patients with mild and moderate hypertension in Navy General Hospital were enrolled in the study.The patients took regular exercise(6 min walking activity and treadmill test),Echocardiogram was performed 24 h after 6 min walking activity and treadmill test.The cardiac function related parameters were obtained through M-mode,2DE,pulse Doppler and DTI detection to compare the effect of 6 min walking activity and treadmill test on cardiac function.Results The results showed that in the male hypertensive patients,EF and E/E' after treadmill test were superior to those after 6 min walking activity (EF:(59.33±4.46)% vs.(56.05±4.57)%;E/E':(4.12±1.66)vs.(4.95±1.79)),the differences were statistically significant(P=0.02,0.01),while among the female hypertensive patients,there were no significant differences in cardiac function(P>0.05).Conclusion Appropriate activity can improve the cardiac function in male hypertensive patients.EF and E/E' after the treadmill test performed better than those after the 6 min walking activity,while its influence on female hypertensive patients was not significant.

Klippel-Trenaunay综合征,又称先天性静脉畸形骨肥大综合征,是一种少见的先天性血管疾病,以表皮毛细血管畸形、静脉曲张和畸形、骨与软组织过度生长三联征为主要临床表现。本研究回顾性分析16例患者资料,探讨彩色多普勒超声在评价Klippel-Trenaunay综合征静脉畸形方面的临床应用价值。1资料与方法1.1一般资料回顾性分析2010年6月—2015年9月我院经临床及下肢静脉造影诊断为Klippel-

Objective To investigate the value of ultrasonography in the diagnosis of fetal facial malformations and the correlation between the abnormal fetal facial abnormalities and chromosomal abnormalities.Methods 5700 pregnant woman were retrospectively analyzed,including the prenatal screening results of ultrasonography,induction of labor,production follow-up results and chromosome examination results.Results (1) In 5700 cases,fetal facial malformations were detected in 24 cases (0.42 ％),with the induction of labor after the specimens or telephone followup,the ultrasound diagnosis coincidence rate was 100％.(2) Fetal facial malformations were included cleft lip and palate,micrognathia deformity,low set ears,eye deformity,and 22 patients received chromosomal examination.16 patients were normal (72.7％),4 cases of amniotic fluid puncture were confirmed as trisomy 18 (18.2％) and 2 cases were trisomy 21 (9.1％).There was a statistical significance between the incidence of fetal chromosomal abnormalities in the normal facial with high risk factors and facial abnormalities.Conclusions Ultrasound has important value in the detection of fetal facial malformations.There has correlation in fetal facial malformations and fetal chromosomal anomaly,when fetal facial malformations is detected,it is necessary to do further chromosome examination.

Objective To assess the clinic value of transthoracic echocardiography in diagnosis of infective endocarditis.Methods Transthoracic echocardiography features and clinic data of 114 patients with infective endocarditis were analyzed retrospectively.The form,activity and coaptation of cardiac valve were observed.The vegetation was found,and the surrounding structure of valve and fundamental heart disease were studied.Results Among 114 patients,the primary symptom presented as fever in 104 patiens.Fundamental heart disease was found in 69 patients;and systemic disease was found in 5 patients.Blood culture was positive in 35 patients.Mitral valve was involved in 46 patients.Aortic valve was involved in 48 patients.Tricuspid valve was involved in 17 patients.Pulmonary valve was involved in 1 patient.Prosthetic valve was infected in 9 patients.Multi-valves were infected in 7 patients.There were serious complications in 19 patients.Ultrasound showed vegetation in 56 of 59 patients underwent surgery.And the diagnostic accuracy rate was 94.92％ (56/59).Conclusion Transthoracic echocardiography can be used to accurately diagnose infective endocarditis.

Objective To evaluate the relationship between left atrial remodeling and stroke in atrial fibrillation using speckle tracking imaging(STI).Methods Sixty patients with atrial fibrillation were divided into two groups,one is stroke group,the other is non-stroke grorp.According to CHADS2-VAS score system,they were divided into three groups,high risk group,moderate-risk group and low-risk group.They all underwent conventional echocardiography and speckle tracking imaging.We measured left atrial diameter(LAD),index of left atrial volume(LAVI),left ventrical ejection fraction,diastolic velocity of mitrial valve (E),diastolic velocity of annular mitrial valve(E'),and calculated E/ E'.Using STI,we measured globle longitudinal strain of left atrial(Globle-S),and measured positive peak of stain rate (SRs),diastolic strain rate(SRe) on strain rate curve.Results (1)LAVI in stroke group was larger than that in nonstroke group.LVEF,Globle-S,SRs and SRe in stroke group were significantly lower than those in non stroke group.(2)Receiver operator characteristic curve demonstrated the area under the curve of Globle-S was the largest(0.918),when the diagnostic point was 9.05,the sensitivity was81.72％,specificity was 88.96％.(3)LAVI in high risk group was larger than that in moderate-risk group and LAVI in moderate-risk group was larger than that in low-risk group,and Globle-S have the converse trend.(4)In high-risk group,the incidence rate of stroke was 61.9％ when Globle-S＜ 9.05,but the incidence rate of stroke was 12.5％ when Globle-S≥9.05.Conclusions Left atrial structural remodeling is helpful to evaluate the risk of stroke in atrial fibrillation and could be an effective supplement of CHADS2-VAS score system.

心包积液是临床上常见的心脏病征之一，可以由外伤、感染、肿瘤及自身免疫等多种原因引起。积液达到中、大量时可引起明显的胸闷、胸痛及呼吸困难等临床症状，甚至引起急性心包填塞，危及患者生命，必须及时穿刺抽液减压。2004年6月至2013年8月我们对138例中、大量心包积液的患者进行实时超声引导下心包穿刺置管引流，解除心脏压迫症状，同时判断积液的性质和查找病原，进行药物治疗，取得良好效果，分析报告如下。

目的 探讨使用便携式超声仪应用创伤重点超声评估(focused assessment with sonography for trauma,FAST)检查法快速诊断海战腹部闭合伤方面的应用价值.方法 模拟伤病员40名(随机抽取中方人员36名,马方人员4名),分别使用便携式彩色超声仪应用FAST检查法判断伤病员腹腔各间隙是否存在游离液体和固定大型彩色超声诊断仪对腹腔各脏器进行常规超声检查判断是否存在腹腔脏器损伤,记录两种检查方法所用检查时间,并进行统计学分析.结果 使用便携式超声仪FAST检查法检查伤病员均未发现腹腔游离液体,检查耗时15.6 ～ 58.6s,平均(32.21±11.74)s;固定式超声仪常规检查方法检查伤病员共发现肝囊肿5例,胆囊息肉4例,肾囊肿5例,前列腺钙化灶7例,均未发现腹腔脏器损伤,检查耗时97.7 ～ 149.5s,平均(118.21±18.29)s,两者检查耗时差异有统计学意义(P＜0.01).结论 便携式超声仪应用超声FAST检查法可快速评估腹部闭合损伤伤情,为下一步诊疗赢得宝贵时间,提高伤员的救治率,适合在作战舰艇部队医疗卫生部门积极推广普及.

Objective To evaluate the reliability of automated function imaging(AFI) in diagnosing myocardial ischemia. Methods AFI was applied on 42 patients with myocardial infarction,longitudinal peak systolic strain(LPSS) of the ischemic segment,global longitudinal peak systolic strain(GLPSS) of the left ventricle were calculated. According to the indexes of myocardial perfusion and metabolized imaging of singlephoton emission computer tomography(ECT), the coincidences of AFI results with those of ECT were analyzed. Results Two hundred and ten ischemic segments of left ventricle,accounting for 27.78%of the observed LV segments in 42 cases,were suggested by bull-eyes maps of AFI. 259 segments with perfusion defect and 169 segments with metabolized defect were detected by ECT,which accounted for 34.26%and 22.34%of the observed LV segments respectively. The rest myocardial perfusion- metabolize imaging matching rate was 38.10%. There were negative correlations between the average LPSS with SPS (summed perfusion score) and SMS (summed metabolized score) of ECT,in which the correlation coefficients were-0.67 and-0.64(P<0.01).Correlation between GLPSS and SSS(summed severity score) of ECT was also negative,in which the coefficient was-0.53(P<0.01).Conclusion By showing the injury of left ventricular systolic function, AFI could conform to the indexes of ECT in assessing the severity of myocardial infarction,so the results of AFI in detecting the ischemic segments of LV is reliable.

目的 探讨超声引导下粗针穿刺活检术(ultrasound-guided core-needle biopsy,US-CNB)判定甲状腺结节良恶性的效果,以期提高甲状腺结节术前定性诊断的准确率.方法 回顾性分析146例经超声诊断为甲状腺结节患者的病例资料,分析采用US-CNB定性诊断甲状腺结节的效果.结果 获取的152个结节中,82个结节内可见微钙化.US-CNB诊断恶性肿瘤92个,良性结节56个,4个结节取材不满意.US-CNB诊断假阳性2例(均误诊甲状腺乳头状癌),误诊率3.39％;假阴性3例(均漏诊甲状腺乳头状癌),漏诊率3.23％.US-CNB对直径≥1.0 cm结节的诊断符合率均在97.00％以上,且高于直径＜1.0 cm结节的诊断符合率(66.67％),差异有统计学意义(P＜0.05).结论 US-CNB对甲状腺结节良恶性的判定有重要意义;通过选择可疑恶性结节穿刺、增加穿刺次数、确保活检针针槽位于结节内、联合细针吸取细胞学检查,可降低US-CNB误诊及漏诊率.

The measurement of nuchal translucency, single umbilical artery and other markersof ultrasound probe has become one of the important methods for screening fetal chromosomalabnormalities and deformities. Fetal neck transparent layer (nuchal translucency,NT) thickeningand single umbilical artery (SUA) closely related to adverse clinical outcomes such as fetal chromosomalabnormalities, congenital heart disease and spontaneous abortion. This paper summarizes theresearch progress of NT and single umbilical artery in prenatal diagnosis of fetal abnormalities.

患儿女,10个月,确诊为糖原累积病(glycogen storage disease type,GSD)1个月,因气促,呼吸困难入院:患儿发育落后,肌张力偏低,双膝健反射弱,经外院基因检测测序分析及酸性a-1,4-葡萄糖苷酶测定诊断为糖原累积病Ⅱ型;实验室检查:肌酸激酶819 U/L;乳酸脱氢酶1 817 U/L;丙氨酸氨基转移酶146.6 U/L;酸性α-葡萄糖苷酶1.1 nmol/day/spot;心电图:双心室高电压;S-T段改变.

Objective To sum up the characteristics of color Doppler echocardiogram in patients with non-compaction of ventricular myocardium (NVM).Methods NVM patients (n=25, male 18, female 7, aged from 20 to 78 and average age=39.56±10.15) were chosen from Jan. 2007 to Jul. 2014, and then divided into symptom group (with obvious clinical symptoms,n=15) and non-symptom group (without symptoms,n=10). All patients were given examination of color Doppler echocardiogram for definite diagnosis, and the characteristics of color Doppler echocardiogram were analyzed.Results The characteristics of cardiac configuration showed as a large number of raised trabecular muscles and chasmal trabecular crypts in ventricular cavity, which was more significant in ventricular apex. The ratio of diastolic myocardial non-compact layer to compact layer (N/C) and left ventricular end-diastolic inner diameter (LVEDd) increased, and left ventricular ejection fraction (LVEF) decreased significantly in symptom group compared with non-symptom group (allP<0.05). The difference in systolic N/C had no statistical significance between 2 groups (P>0.05).Conclusion NVM has characteristic ultrasonographic images, and color Doppler echocardiogram is a reliable method for diagnosing NVM.

目的 探讨超声引导静脉腔内激光消融(EVLT)过程中压迫与不压迫靶静脉对消融后静脉内膜坏死及静脉壁穿孔的影响.方法 解放军总医院第一附属医院动物实验中心提供的10条山羊后肢隐静脉,随机分为超声引导EVLT压迫靶静脉组与非压迫靶静脉组,每组各5条隐静脉.消融前超声扫查隐静脉全程,测量内径.2组分别于超声引导EVLT过程中压迫及不压迫靶静脉.消融后取消融静脉段制作病理切片,光镜下测量并计算静脉内膜坏死率、静脉壁穿孔率.采用t检验比较超声引导EVLT压迫靶静脉组与非压迫靶静脉组消融前静脉内径、消融后静脉内膜坏死率的差异采用x2检验比较超声引导EVLT治疗压迫靶静脉组与非压迫靶静脉组消融后静脉壁穿孔率.结果 超声引导EVLT压迫靶静脉组与非压迫靶静脉组消融前静脉内径比较,差异无统计学意义[(4.1±0.4) mm vs(4.2±0.4) mm,t=-0.395,P＞0.05];超声引导EVLT非压迫靶静脉组消融后静脉内膜坏死率高于超声引导EVLT压迫靶静脉组,且差异有统计学意义[(96.8±1.8)％vs (88.6±4.4)％,t=-23.26,P＜0.05];超声引导EVLT非压迫靶静脉组消融后静脉壁穿孔率低于超声引导EVLT压迫靶静脉组,且差异有统计学意义[21.1％ (16/75) vs 65.6％ (49/75),x2=29.57,P＜0.05].结论 超声引导EVLT过程中,不压迫靶静脉消融后静脉内膜坏死率高于而静脉壁穿孔率低于压迫靶静脉.