热带巨脾病43例临床分析

热带巨脾病４３例临床分析任喜民作者１９８９～１９９１参加中国援苏丹医疗队，发现当地居民脾脏肿大者多，４３例中，男３９例，女４例，年龄１４～７６岁，平均３７．４岁。主要分布在苏丹中部青尼罗河沿岸地区，为热带沙漠～热带雨林过渡地带，属高疟区。临床表现患者...     

巨幼细胞性贫血74例临床分析

目的 分析74例巨幼细胞性贫血病因、临床表现、外周血及骨髓象变化。方法 对74例经骨髓象检查的巨幼细胞性贫血患者的临床及化验结果进行回顾性分析。结果 74例中40例（54．05％）有消化道症状，38例（51．35％）三系血细胞均减少，12例（16．22％）有神经症状，巨幼细胞性贫血需与全血细胞减少的疾病和消化道疾病及神经精神疾病进行鉴别。结论 对于临床表现不典型且血细胞异常的患者，应积极动员患者尽早做骨髓穿刺检查，注意寻找多分叶核的粒细胞及巨型杆状核细胞的存在，及时明确诊断，注重消化系统疾病的防治及膳食结构调整，维生素B12和（或）叶酸治疗，绝大部分患者治疗效果显著。     

膀胱原发性淋巴瘤五例临床分析

近10年来，随着对淋巴结外原发性淋巴瘤（PL）的逐渐认识，膀胱淋巴瘤的报告增多，为探讨膀胱PL的临床特点，我们结合收治的5例膀胱PL的临床资料，就其诊断及处理中的若干问题进行探讨。     

彩超产前诊断胎儿心血管异常的临床价值

目的探讨彩超产前诊断胎儿心血管异常的临床价值。方法随机抽取我院2011年1月-2013年12月产检的280例孕妇,分为高危险因素组与没有高危险因素组,通过回顾性分析对两组孕妇的胎儿心血管异常进行对比与分析。结果 280例进行产检的孕妇中,检查出有4例心血管异常的胎儿,且均在引产处理后尸检或者是分娩后得到证实。在随访中得知,高危因素孕妇的胎儿心血管异常的检出率明显高于不存在高危因素的孕妇,存在较大差异,具备统计学意义(P0.05)。结论彩超在产前胎儿心血管异常诊断中的应用,不仅有效提高了胎儿心血管异常的诊断有效率,而且降低我国新生儿中先天心脏病的发病率与死亡率,大大提高了我国人口出生质量,促进我国优生优育水平的提高,具有非常重要的意义。     

胎儿超声心动图产前诊断先天性心脏病的临床流行病学评价

胎儿超声心动图（简称胎儿心超）已成为产前诊断先天性心脏病的方法。本文就胎儿心超的诊断效率、成本－效益分析及胎儿心超应用于普查先天性心脏病之前需解决的一些问题进行综述。     

产前超声诊断胎儿脉络丛囊肿92例分析

2007年3月～2010年4月,我院常规行胎儿产前超声检查检出胎儿脉络丛囊肿（CPC）92例,现将其临床资料分析如下。     

尿道及膀胱三角区尖锐湿疣19例临床分析

2001年6月～2009年10月,我们收治尿道及膀胱三角区尖锐湿疣患者19例,现对其临床资料进行分析,以提高其诊治水平。     

彩色多普勒超声产前诊断胎儿单脐动脉及伴发胎儿畸形的意义分析

目的 探究彩色多普勒超声对胎儿单脐动脉及伴发胎儿畸形的临床诊断价值.方法 病例时段2018年1月-2019年12月间收治我院的单脐动脉胎儿60例,均进行彩色多普勒超声产前检查,结合检查结果 分析单脐动脉及伴发胎儿畸形情况.结果 60例单脐动脉胎儿经检查,显示单纯的单脐动脉44例(占比73.33%),并发胎儿畸形16例(占比26.67%);其中消化系统畸形3例、呼吸系统畸形2例、颜面部畸形3例、骨骼系统畸形2例、泌尿系统畸形1例、心血管系统畸形5例.结论 产前彩色多普勒超声检查对诊断鉴别单脐动脉及伴发胎儿畸形具有重要的作用,可为临床分娩方案的制定提供可靠依据,现实优生优育,临床价值较高.     

胎儿先天性心脏病产前诊断与干预策略

1 概述 　　先天性心脏病(先心病)是最常见的出生缺陷之一,占活产儿的0.8%～1.2%.我国每年新增先心病人15万～20万,其中严重、难治及生后易早期死亡的占20%～30%.……     

胎儿超声心动图产前诊断先天性心脏病准确性评价

目的 评价胎儿超声心动图产前诊断先天性心脏病的准确性.方法 回顾2001年1月至2007年12月诊断为先天性心脏病胎儿的超声心动图资料,将产前诊断与胎儿心脏病理诊断或出生后新生儿超声心动图诊断结果进行比较.结果 研究期间共诊断胎儿先天性心脏病113例,初次检查时平均孕周为26.8周.79例(70%)行胎儿心脏病理检查或新生儿超声心动图检查确诊,其中68例产前诊断与产后诊断相符,产前诊断准确率86%.锥干畸形诊断准确率77%(24/31),间隔缺损96%(26/27),瓣膜畸形90%(9/10),单心室畸形83%(5/6).产前假阳性诊断4例,阳性预测值95%(75/79).结论 胎儿超声心动图检查是先天性心脏病产前诊断的有效方法,能够对各种常见类型的先天性心脏病进行准确诊断.完整的分段诊断是降低漏诊及误诊率,提高诊断准确性的关键.     

胎儿心律失常的宫内诊治

目的分析胎儿心律失常的发病状况、妊娠经过及妊娠结局,以提供进一步的临床指导。方法检索北京妇产医院7年间30 021例次妊娠中所有病历,依据多普勒胎心听诊、胎心监护、胎儿超声心动图（UCG）检查而诊断胎儿心律失常,回顾性分析所发现的胎儿心律失常的类型及其妊娠结局。结果共有16例胎儿心律失常被诊断,除1例失访,1例放弃胎儿外,均取得了良好的妊娠结局。结论胎儿心律失常病因不清,可能与存在高危妊娠因素有关;可分为3种临床类型,胎儿UCG可提供明确诊断;对胎儿快速型心律失常药物治疗有效,多数胎儿心律失常结局良好。     

Prenatal diagnosis of Berry syndrome by fetal echocardiography: A report of four cases

Berry syndrome is a rare congenital cardiac malformation. We describe 4 cases of Berry syndrome diagnosed by fetal echocardiography. Based on our experience, the three‐vessel view is important for diagnosing the aortopulmonary window and aortic origin of the right pulmonary artery. Furthermore, the true cross‐sectional and sagittal views obtained by continuously scanning from the three‐vessel‐trachea view to the long‐axis view of the aortic arch are required to image the interruption or coarctation of the aortic arch. An early and accurate prenatal diagnosis of Berry syndrome is feasible and helps to improve patient outcomes.     

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

Spinal muscular atrophy (SMA) has a prevalence of one in 6000 births and a one in 40 heterozygote frequency. We aimed to develop a routine test for non-invasive prenatal diagnosis. We tested blood with ISET (isolation by size of epithelial tumour or trophoblastic cells) in 12 pregnant women whose babies were at risk of SMA. Using genetic analysis of fetal cells, we identified SMA in all nine isolated from the three mothers carrying an affected child. There was no mutation in any of the 26 fetal cells isolated from the nine women with an unaffected child. Our results show that non-invasive detection of genetic diseases by the analysis of maternal blood is feasible.     

A clinical analysis of 13 cases of adult osteomalacia]

13 cases of renal tubular osteomalacia, consisting of 5 cases of Vitamin D resistant rickets (VDRR), 6 cases of renal tubular acidosis(RTA) and 2 cases of Fanconis syndrome were reported. The biochemical findings of the serum and urine from the 13 cases were compared with those from normal controls. The clinical findings, diagnosis and treatment of renal tubular osteomalacia were reviewed. The differential diagnosis of osteomalacia with laboratory methods and the mechanism of its pathogenesis were discussed.     

基因组测序技术应用于产前诊断胎儿染色体异常的研究

目的探讨基因组测序技术在产前诊断胎儿染色体异常中的价值。方法选取2013-12~2014-05在广西壮族自治区人民医院就诊,孕龄在18~24周的高龄妊娠、唐氏综合征生化筛查高风险和(或)彩超显示胎儿异常并同意产前诊断的孕妇60例,抽取孕妇羊水,提取羊水DNA,制备测序文库,应用Ion Proton测序仪检测,所得的基因序列与人类的参考基因组比对并作统计分析。并与同一样本经细胞培养后进行染色体核型分析进行对照分析。结果 60例羊水样本处理后经大规模平行基因组测序技术检测判定3例为染色体拷贝数异常,57例无明显异常;以羊水细胞染色体核型分析为对照,检出6例异常结果。结论利用大规模平行基因组测序技术检测孕妇羊水中DNA诊断胎儿染色体异常,其特异性与染色体核型分析技术具有较高的一致性。该技术具有高准确性、高通量、高灵敏度和低成本等优点,具有临床实际应用价值。     

Prenatal diagnosis of idiopathic infantile arterial calcification without fetal hydrops

Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disease that is characterized by extensive calcification of the internal elastic lamina and intimal proliferation of large‐ and medium‐sized arteries, including the aortic, coronary, pulmonary, and iliac arteries. Most reported cases of IIAC were diagnosed in the neonatal periods. Prenatal diagnosis of this condition is extremely rare and is usually made in the third trimester when fetuses had nonimmune hydrops together with aortic and pulmonary calcification. Early prenatal diagnosis can hardly be made without fetal hydrops in the second trimester. We report a case of IIAC referred to our center because of hyperechogenic tricuspid valve. The prenatal diagnosis was made by echocardiographic detection of diffuse hyperechogenicity of the cardiac valves, annuli, aorta, pulmonary artery, renal artery and common iliac artery without fetal hydrops. To the best of our knowledge, this was the first case of IIAC accurately diagnosed prenatally in the absence of fetal hydrops.     

Prenatal diagnosis of hemoglobin Bart's hydrops fetalis by HPLC analysis of hemoglobin in fetal blood samples

Since HbF and HbA are not found in fetuses with Hb Bart's hydrops fetalis the feasibility of prenatal diagnosis of homozygous alpha-thalassemia 1 by fetal hemoglobin typing was examined. Blood samples were obtained from fetuses at 18 to 22 weeks of gestation by cordocentesis in 32 pregnant women at risk of having a child with homozygous alpha-thalassemia 1 (alpha-thal-1). The samples were analyzed by a PCR-based method for the diagnosis of alpha-thal-1 (SEA type) and the proportion of hemoglobin fractions were determined by automated HPLC. DNA analysis showed that 8 of the 32 fetuses were homozygotes for alpha-thal-1, 17 were heterozygous for alpha-thal-1 (alpha-thal-1 trait), and a normal complement of four a-globin genes was found in 7 cases. The Hb typing in fetuses with homozygous alpha-thal-1 showed a peak of unbound Hb (Hb Bart's and Hb Portland) and no HbF, HbA and HbA The alpha-thal-1 trait chromatograms showed unbound Hb, pre HbF, HbF and HbA peaks. The chromatogram of normal fetuses showed HbF and HbA peaks without HbA2. In these cases the HbA proportion is between 3% and 10% with no apparent differences between the 18h and 22nd week of gestation. As the analysis of fetal Hb types by HPLC is facile and speedy and the results correspond with those obtained by DNA analysis, fetal Hb typing by automated HPLC is a convenient prenatal diagnostic method for homozygous alpha-thal-1. The method is recommended for prenatal diagnosis in populations with a high frequency of alpha-thal-1.