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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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It has been speculated that the homeopathic treatment of sperm cells in order to improve semen quality could be promising. However, few data is available and its use in spermatozoa requires investigation. It is well established that mitochondrial membrane potential is an important viability parameter of spermatozoa and it is intimately related to reproductive efficiency. In this manner, new technologies in order to improve the activity of sperm cells and, finally, the fecundity of swine herds are of extremely importance. Due to the lack of knowledge of homeopathic treatment effect on spermatozoa, the aim of the present study was to verify the effect of three different homeopathic treatments on viability of boar sperm cells. Three homeopathic treatments composed by Pulsatila CH6, Pulsatila and Avena CH6, Avena CH6 and one control treatment (sucrose) were added to diluted boar semen, which were cooled for 24 or 48 h. Interestingly, no positive effect of homeopathic treatments was observed over semen viability. However, it was demonstrated that the 24 h of cooling storage provided more viable sperm cells when compared to the 48-h period. This effect of storage period on sperm viability was assessed by intact plasmatic membrane, intact acrosome and mitochondrial membrane potential evaluation.  相似文献   
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