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??Abstract?? Objective To analyze ALDH3A2 mutation in four Chinese patients with Sjögren-Larsson syndrome ??SLS??. Methods Four patients were clinically diagnosed with SLS. Respectively take 3 ml of peripheral blood. All 11 exons and exon-intron boundaries of ALDH3A2 gene were amplified by polymerase chain reaction ??PCR?? and directly sequenced for genomic DNA. Results 1. All four patients had congenital ichthyosis?? mental retardation??and spastic diplegia or tetraplegia. Patient 1 had a compound heterozygote??c.1157A??G inherited from her father?? IVS5-1del G inherited from her mother. Both her parents had normal phenotype. Patient 2 and Patient 3 were siblings?? they were both homozygotes??a A-to-G transition at nucleotide 1157 in exon 8. The heterozygosity was demonstrated in their mother. Both her parents had normal phenotype. Conclusion Two different mutations were examined in these 4 Chinese patients?? and the SLS cases were confirmed by ALDH3A2 mutation analysis.  相似文献   
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Purpose  

Vascular closure devices are routinely used after many vascular interventional radiology procedures. However, there have been no major multicenter studies to assess the safety and effectiveness of the routine use of closure devices in interventional radiology.  相似文献   
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Purpose  

The aim of study was to compare growth, nutritional status and incidence of chest wall deformities and scoliosis in survivors of large congenital diaphragmatic hernia (CDH) defect (Gore-Tex patch reconstruction) with survivors with smaller defects and primary reconstruction.  相似文献   
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??Abstract: Objective To assess the efficiency and safety of the flexible bronchoscopic balloon dilatation tracheoplasty in children?? and discuss the optimal indication and combined therapy of central airway stenosis in children. Methods From July 2009 to April 2012?? 34 cases were diagnosed as central airway stenosis by chest CT scan and bronchoscpy in Shanghai Children's Medical Center??and received the treatment of the flexible bronchoscopic balloon dilatation tracheoplasty. The data about the efficiency?? complication and prognosis of the treatment were collected. Results In the 34 cases?? 16 cases were improved after the treatment and the overall response rate was 47.1%. According to the pathology of the stenosis?? these cases were divided into three types: 9 cases were membranous stenosis?? 5 cases were muscular stenosis and 20 cases were osseous stenosis. The response rate was 47.1%?? 100%?? and 20% respectively. According to the anatomy morphology of the stenosis?? 20 cases were short distance stenosis and the response rate was 75%?? 12 cases were long distance stenosis and the response rate was 8.3%?? 2 cases were funnel stenosis and the response rate was 0. Among these cases?? 3 cases accepted the operation of pulmonary artery sling and tracheal sliding angioplasty?? the total response rate being raised to 55.9%. The most common complication in the flexible bronchoscopic balloon dilatation tracheoplasty was transient oxygen desaturation. Conclusion The severity?? length?? pathology?? indication and time of the treatment should be considered completely before the flexible bronchoscopic balloon dilatation tracheoplasty. The balloon dilatation therapy is suitable for membranous with short distance stenosis. The combined interventional treatment is good for muscular stenosis??and the surgery and palliative treatment is an option for osseous with long distance stenosis.  相似文献   
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目的分析1000例儿童肾活检的成功率及并发症。方法收集2005-01-01—2012-1-31在成都市妇女儿童中心医院儿童肾内科就诊的肾脏病患儿1000例,在B超引导下经皮穿刺活检,分析取材长度、活检针数与成功率及并发症的关系。结果 962例获得足够肾组织,平均肾小球(24.1±12.3)个(5~53个),满足光镜、电镜、免疫荧光检查的需要,并做出了完整的病理诊断;10例虽然穿刺成功,但全为髓质组织,没有肾小球;28例肾小球数少于5个,未做出病理诊断;总成功率96.2%。其主要并发症:患者术后出现并发症17%,其中一过性肉眼血尿85例,占8.5%(85/1000例),部分患儿有腰部不适75例,占7.5%(75/1000例),肾周血肿10例,占1%,无感染、休克、动静脉瘘等严重并发症发生。结论超声引导下儿童肾活检成功率高、并发症少,是安全可靠的。  相似文献   
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