致眼球突出疾病的CT诊断体会

眼球突出的病因众多。本文回顾性地分析了31例眼球突出患者的CT表现,并就本组病例结合文献讨论了有关的鉴别诊断问题。     

Assessment of ovarian vascularization in the polycystic ovary by three-dimensional power Doppler ultrasonography

Objective. To assess whether there are differences in ovarian echogenicity and vascularization as assessed by three-dimensional power Doppler angiography (3D-PDA) between women with polycystic ovaries (PCO) and women with normal ovaries (NO).

Methods. Eighty-three women were classified into two groups according to the 2003 Rotterdam consensus criteria. The NO group comprised women (n = 45) with regular menstrual cycles and proven fertility, whereas the PCO group comprised women (n = 38) with oligo-anovulation, clinical and/or biochemical features of hyperandrogenism, and polycystic ovary morphology at two-dimensional ultrasound. All women were evaluated by means of 3D-PDA. The parameters studied in both groups were follicle number per ovary (FNPO), ovarian volume (OV), mean gray value (MG) and three vascular indices: vascularization index (VI), flow index (FI) and vascularization flow index (VFI).

Results. The PCO group showed a higher mean OV as well as FNPO. No differences in MG, VI, FI and VFI were found between the groups.

Conclusions. 3D-PDA indices are not useful for discriminating between normal and polycystic ovaries.     

Invasive genetic studies in multiple pregnancy

Invasive procedures for prenatal diagnosis in multiple gestations are relatively safe and effective. First-trimester chorionic villus sampling has a lower risk of procedure failure and of fetal loss than amniocentesis but it carries a higher risk of maternal cell or twin-twin cell contamination. In experienced hands, the safety, efficacy of sampling and accuracy of genetic analysis of chorionic villus sampling and amniocentesis are similar. We describe our experience in amniocentesis, chorionic villus sampling and cordocentesis in multiple pregnancy.     

不同发育天数囊胚冻融移植后妊娠结局分析

目的比较不同发育天数冻融囊胚移植后的妊娠结局。方法回顾性分析1 176例行冻融囊胚移植患者的临床资料,其中植入前遗传学诊断(preimplantation genetic diagnosis,PGD)周期135例,比较第5日单囊胚移植(single embryo transfer,SET)组、双囊胚移植(double embryo transfer,DET)组与第6日SET组和DET组的妊娠结局。结果同是优质囊胚级别的条件下,第5日DET组的生化妊娠率(56.91%)、临床妊娠率(53.25%)以及多胎妊娠率(1.20%)显著高于其他组(P0.05);第5日DET组与SET组的胚胎着床率无统计学差异(P0.05),但均显著高于第6日DET组和SET组(P0.05);同级别以及PGD周期中第5日和第6日SET组相比较,第5日组的生化妊娠率、胚胎着床率均显著高于第6日组(P0.05)。结论在同是优质囊胚的条件下,第5日SET、DET及经PGD诊断的SET妊娠结局均优于第6日。     

Analysis of etiology,chromosome and prognosis for small left heart system development in 69 fetuses

Objective: To provide a basis for evaluating the prognosis of small left heart system development in fetuses, we analyzed its related factors.

Methods: The fetal echocardiogram was performed in 3859 pregnant women, and then small left heart system development was identified in 69 fetuses. The data of prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, chromosome and autopsy after induced labor were analyzed in the 69 fetuses.

Results: Except 1320 cases losing follow-up, 2539 cases had complete data. Among the 2539 cases, small left heart system development was identified in 69 fetuses. Of the 69 fetuses, 12 had hypoplastic left heart syndrome, 20 premature closure of foramen ovale, 13 total anomalous pulmonary venous drainage, 2 common pulmonary vein lumen atresia, 21 aortic coarctation or interruption and 1 right pulmonary hypoplasia. Among the 69 fetuses, chromosome abnormality was found in 7.

Conclusion: There are many etiological factors causing small left heart system development. The prognosis is poor in the fetuses with hypoplastic left heart syndrome, common pulmonary vein lumen atresia, pulmonary hypoplasia, other malformations or/and chromosome abnormality. Fetal echocardiography combined with chromosome examination can provide important bases for making diagnosis and evaluating the prognosis regarding small left heart system development.     

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

Although embryo screening by preimplantation genetic diagnosis (PGD) has become the standard technique for the treatment of recurrent pregnancy loss in couples with a balanced gross chromosomal rearrangement, the implantation and pregnancy rates of PGD using conventional fluorescence in situ hybridization (FISH) remain suboptimal. Comprehensive molecular testing, such as array comparative genomic hybridization and next‐generation sequencing, can improve these rates, but amplification bias in the whole genome amplification method remains an obstacle to accurate diagnosis. Recent advances in amplification procedures combined with improvements in the microarray platform and analytical method have overcome the amplification bias, and the data accuracy of the comprehensive PGD method has reached the level of clinical laboratory testing. Currently, comprehensive PGD is also applied to recurrent pregnancy loss due to recurrent fetal aneuploidy or infertility with recurrent implantation failure, known as preimplantation genetic screening. However, there are still numerous problems to be solved, including misdiagnosis due to somatic mosaicism, cell cycle‐related background noise, and difficulty in diagnosis of polyploidy. The technology for comprehensive PGD also requires further improvement.     

现代儿科呼吸介入技术在喉喘鸣中的应用进展

喉喘鸣是由多种病因引起、常伴多种临床表现的婴幼儿临床症状,病因不仅包括咽喉部疾病,亦可由声门下及气管病变引起,故纤细柔软的可弯曲支气管镜可对其进行全面评估及诊断,文章根据解剖部位对喉软化等13种疾病进行镜下诊断。且随着介入呼吸病学的快速发展,消融术、球囊扩张术及支架置入术等支气管镜介入技术为引起喉喘鸣的相关疾病提供了微创的治疗方法。未来随着越来越多的儿科呼吸介入医生关注咽喉部病变的诊疗,将会极大提升喉喘鸣的诊疗水平。     

染色体核型分析联合染色体微阵列分析在平衡易位/倒位携带者产前诊断中的应用价值

目的:探讨染色体核型分析与染色体微阵列分析（chromosomal microarray analysis,CMA）技术在染色体平衡易位/倒位携带者产前诊断中的应用价值。方法:本研究为回顾性研究。纳入既往因自然流产（≥2次）、死胎、胎儿多发畸形或染色体异常患儿生育史,夫妇双方行外周血染色体核型分析和荧光原位杂交检测确诊...     

鼻咽癌初诊患者中耳功能的相关多因素量化分析

目的：探索量化和客观评价鼻咽癌初诊患者的中耳功能的方法,采用多因素及量化的方法分析其影响因素。方法：对320例（320耳）鼻咽癌初诊患者行电耳镜、声导抗检测、纯音听阈测试、鼻咽部及中耳CT或MRI扫描、咽鼓管功能检查、电子鼻咽镜检查,量化评估中耳功能;采用SPSS13．0进行单因素及多因素分析。结果：T分期、临床分期、肿物部位、扩散类型、形态、咽鼓管功能及咽口形态、影像学侵犯范围（鼻腔、颅底、咽隐窝、咽旁间隙、腭帆张肌、腭帆提肌）是影响鼻咽癌初诊患者的中耳功能单因素,而性别、年龄、病理类型、N分期、M分期对鼻咽癌初诊患者中耳功能无影响;多因素分析显示：T分期、肿物部位、咽鼓管功能、腭帆张肌侵犯、颅底侵犯是影响鼻咽癌初诊患者中耳功能的独立因素。结论：鼻咽癌初诊患者的中耳功能受T分期、肿物部位、咽鼓管功能、腭帆张肌侵犯、颅底侵犯等相关因素影响,本研究探讨的中耳量化标准能较为客观地评估鼻咽癌初诊患者的中耳功能。     

大前庭水管综合征患者误诊与漏诊原因分析

目的 了解大前庭水管综合征(large vestibular aqueduct syndrome,LVAS)患者的临床特征,分析造成误诊和漏诊的原因.方法 观察19例被误诊或漏诊的LVAS患者,详细了解诊治经历,行纯音测听、声导抗测听及脑干诱发电位等听功能检查,所有患者均行颞骨高分辨CT检查.结果 19例患者确诊年龄为...