超声监测恶性肿瘤患者腹腔淋巴的研究

目的 :应用超声监测分析探讨恶性肿瘤患者腹腔淋巴结的特征性及实用性。方法 :回顾分析 5 6例恶性肿瘤患者腹腔淋巴结肿大的声像图特征。结果 :B超检查可以准确显示腹腔淋巴结的形态、大小、位置及声像图特征。并为临床提供了诊断与治疗的依据。结论 :B超检查是发现与监测恶性肿瘤患者腹腔淋巴结肿大的一种有效方法。     

脑梗塞患者颈动脉粥样硬化斑块的超声研究

目的探讨脑梗塞患者颈动脉粥样硬化病变程度和特征,评价彩色多普勒超声对该粥样斑块的诊断价值.方法应用HP5500超声仪,对35例脑梗塞患者和46例正常人进行颈动脉检查.结果脑梗塞组颈动脉粥样硬化斑块检出率、斑块记分均显著高于对照组[分别为85.7%和21.7%,P＜0.01;(6.745±3.214)mm和(3.408±3.613)mm,P＜0.001],且脑梗塞组软斑比例为55.8%,显著大于对照组33.3%(P＜0.01),脑梗塞组斑块表面不规则即Ⅱ、Ⅲ度的比例亦显著大于对照组(41.9%/11.1%,11.6%/0%,P＜0.05).结论脑梗塞的发生与颈动脉粥样硬化病变密切相关;软斑块是发生脑梗塞的主要危险;超声检查对颈动脉粥样硬化具有诊断价值,可为脑梗塞的预防与治疗提供参考资料.     

孕妇外周血血浆胎儿DNA的检测

目的：建立可靠有效的检测孕妇血浆胎儿DNA的方法,探讨其在非创伤性产前诊断中的价值。方法：采用引物引伸预扩增（PEP）法及巢式PCR技术对65例孕妇外周血血浆DNA进行正常男性SRY基因检测。结果：单用巢式PCR技术和联合应用PEP,PCR技术对怀男胎的孕妇血中SRY基因检出率分别为65．2％（30／46）和89．1％（41／46）,两组差异有极显著性,对怀女胎孕妇血中SRY基因的未检出率为78．9％（15／19）和94．7％（18／19）,两组差异无显著性。结论：应用PEP法可对胎儿DNA进行全基因组扩增使DNA模板量增加,并使继后的PCR技术检测SRY基因的敏感性明显提高,PEP法是解决母血中胎儿细胞数量太少的途径之一,孕妇血浆中胎儿DNA可成为非创伤性产前诊断的胎儿物质来源。     

乳腺髓样癌的超声检查与组织病理的相关性分析

目的:探讨超声检查在诊断乳腺典型髓样癌中的临床意义。方法:按严格的病理诊断学标准将病例重新分类为乳腺典型髓样癌和非典型髓样癌,比较两者间声像学特征的异同。结果:32例中有13侧重新诊断为乳腺典型髓样癌;另外19例为非典型髓样癌。13例典型髓样癌患者中的10例边界整齐光滑;全部19例非典型髓样癌病人没有一例边界光滑,或者边界呈锯齿状(16例),或者边界光滑伴局部不规则(3例)。非典型与典型髓样癌间肿瘤边界的规则性有明显的差异。结论:如果超声检查提示肿瘤边界呈锯齿状或肿瘤边界光滑伴局部不规则,应行整个肿瘤的病理评估防止典型髓样癌的过诊断。     

颈动脉粥样斑块与冠状动脉病变

目的 研究颈动脉粥样斑与冠状动脉病变的关系。方法 将82例冠心病待排和冠心病患者按冠状动脉造影结果分成正常组和冠脉粥样病变组,同期超声检测颈动脉粥样硬化程度。结果 颈动脉粥样斑块与冠脉弱粥样硬化之间有较密切的关系。颈动脉粥样斑块对狭窄性冠状动脉病变预测的敏感性为71.7%,特异性为91.9%,阳性和阴性预测值分别为91.7%和73.9%,其准确性为81.7%。结论 颈动脉超声检测可作为预测冠状动脉粥样硬化有价值的指标。     

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples

Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical, psychological and reproductive life. The genetic heterogeneity of DSDs complicates the diagnosis and almost half of the patients remains undiagnosed. In this context, chromosomal imbalances in syndromic DSD patients may help to identify new genes implicated in DSDs. In this study, we aimed at describing the burden of chromosomal imbalances including submicroscopic ones (copy number variants or CNVs) in a cohort of prenatal syndromic DSD patients, and review their role in DSDs. Our patients carried at least one pathogenic or likely pathogenic chromosomal imbalance/CNV or low-level mosaicism for aneuploidy. Almost half of the cases resulted from an unbalanced chromosomal rearrangement. Chromosome 9p/q, 4p/q, 3q and 11q anomalies were more frequently observed. Review of the literature confirmed the causative role of CNVs in DSDs, either in disruption of known DSD-causing genes (SOX9, NR0B1, NR5A1, AR, ATRX, …) or as a tool to suspect new genes in DSDs (HOXD cluster, ADCY2, EMX2, CAMK1D, …). Recurrent CNVs of regulatory elements without coding sequence content (i.e. duplications/deletions upstream of SOX3 or SOX9) confirm detection of CNVs as a mean to explore our non-coding genome. Thus, CNV detection remains a powerful tool to explore undiagnosed DSDs, either through routine techniques or through emerging technologies such as long-read whole genome sequencing or optical genome mapping.     

Ultrasound‐Assisted Precise In Situ Decompression for Cubital Tunnel Syndrome

ObjectiveTo explore the effect of locating the ulnar nerve compression sites and guiding the small incision so as to decompress the ulnar nerve in situ on the elbow by high‐frequency ultrasound before operation.MethodsA retrospective analysis was conducted on 56 patients who underwent ultrasound‐assisted in situ decompression for cubital tunnel syndrome from May 2018 to August 2019. The patients'' average age was 51.13 ± 7.35 years, mean duration of symptoms was 6.51 ± 1.96 months, and mean postoperative follow‐up was 6.07 ± 0.82 months. Nine patients had Dellon''s stage mild, 39 had stage moderate, and eight had stage severe. Ultrasound and electromyography were completed in all patients before operation. The presence of ulnar nerve compressive lesion, the specific location, and the reason and extent of compression were determined by ultrasound. A small incision in situ surgery was given to decompress the ulnar nerve according to the pre‐defined compressive sites.ResultsAll patients underwent in situ decompression. The compression sites around the elbow were as follows: two in the arcade of Struthers, one in the medial intermuscular septum, four in the anconeus epitrochlearis muscle, five beside the cyst of the proximal flexor carpi ulnaris (FCU), and the remaining 44 cases were all from the compression between Osborne''s ligament to the two heads of the FCU. The compression localizations diagnosed by ultrasound were confirmed by operations. Preoperative ultrasound confirmed no ulnar nerve subluxation in all cases. The postoperative outcomes were satisfactory. There was no recurrence or aggravation of symptoms in this group of patients according to the modified Bishop scoring system; results showed that 43 cases were excellent, 10 were good, and three were fair.ConclusionsHigh‐frequency ultrasound can accurately and comprehensively evaluate the ulnar nerve compression and the surrounding tissues, thus providing significant guidance for the precise minimally invasive treatment of ulnar nerve compression.     

胎儿持续性右脐静脉的超声诊断及临床意义

目的探讨持续性右脐静脉胎儿的产前超声表现以及临床结果之间的关系。方法于产前超声检查发现胎儿持续性右脐静脉，对胎儿及出生后的婴儿进行随访观察，并对结果进行总结分析。结果发现并随访持续性右脐静脉胎儿18例，其中合并完全性房室隔缺损1例（21-三体儿），合并尿道后瓣膜并单脐动脉1例，另一例合并单脐动脉，余未发现合并其他胎儿畸形，产后超声检查新生儿发现门静脉变异17例，随访3—6月生长发育正常。结论本组资料显示，单纯持续性右脐静脉的胎儿，无合并其他部位的畸形，被视为良性的解剖学变异，预后良好；如合并其他畸形，则需进行相关的遗传学检查及相应的诊疗措施。     

超声引导下行输卵管通液术在原发性不孕中的应用

通过57例原发性不孕症病人在B超引导下行输卵管通液术,术后随访观察,输卵管不通畅治愈率达89．5％(51／57);妊娠率达63。2％(36／57)。因此,B超引导下行输卵管通液术不仅是诊断和治疗输卵管不通所致原发性不孕症的一条好途径,而且是对传统输卵管通液术的进一步发展。     

2158 例神经管缺陷儿的产前B型超声波诊断分析

回顾性分析1990～1993年全国28省、市、自治区233所医院,住院分娩的孕满28周的2158例神经管缺陷儿的产前诊断情况,了解我国神经管缺陷儿产前B型超声波诊断情况.结果显示:我国神经管缺陷产前诊断的比例为61.8%,产前B型超声波诊断的比例为56.5%,其中无脑畸形、脑膜脑膨出、脊髓外翻的产前B型超声波诊断比例分别为66.7% 、62.5%、52.5%.胸段(46.4%)、腰段(43.4%)的脊柱裂产前B型超声波诊断的病例较颈段 (35.5%)、骶段(31.7%)高(P<0.05).省级、市级、县级及部队工矿医院神经管缺陷的产前B型超声波诊断比例分别为55.7%、59.4%、49.0%、57.2%.1991～1993年神经管缺陷产前B型超声波诊断比例分别为53.5%、55.8%、60.7%、54.7%.无脑畸形、脑膜脑膨出、脊髓外翻产前B型超声波诊断的比例较高.