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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.     

чyвcтвитeльнocть к cпeцифичecким ингибитopaм paннич и пoзднич cтaдии caмocбopки фибpинa

Fibrinogen and its degradation products - specific inhibitors of fibrin polymerization, were added to dissolved fibrin prior to or during polymerization. Inhibitor additions were timed so as to cover the whole period of polymerization up to the outset of clotting. The results clearly demonstrated that when the addition delay was gradually increased the inhibitory effect decreased much sharper than expected, i.e. the actual retardation of clotting proved less than the value calculated on the admission that all the polymerization stages were equally susceptible. (In the Table I figures represent seconds of clotting retardation; column 3 - found, column 4 - calculated). At the latest polymerization stages the inhibitory effect vanished altogether. Both of the manifestations of the inhibitory activity, prolonged clotting time and deminished gel turbidity, subsided in parallel as the moment of inhibitor introduction was moving towards the moment of clotting. FIG. 1 shows turbidity increase during the clotting of two fibrin monomer preparations one of which (A) had been preliminarily activated (14); the upper curve corresponds to the inhibitor-free controle, the lowest curve - to the sample containing the inhibitor from the very beginning of the polymerization, the intermediate curve - a sample to which the inhibitor was added with a delay equal to 50% of the controle clotting time. Fibrinogen labelled with fluoresceineisothiocyanate was found to be incorporated into fibrin clot more readily at early polymerization stages. Electron microscopic examination revealed striking structural defects in fibrin fibres whose formation was influenced by the inhibitor throughout the polymerization process. If added at later stages the inhibitor caused little or no structural damage (FIG. 2–5). Thus, the susceptibility to specific inhibitors disappeares to a great extent during the early polymerization stages. In contrast with the specific inhibitors other inhibitors, like urea or hexamethylene glycol, are fully effective even if applied just before clotting would began. This striking difference suggest that the early and late polymerization stages differ from each other in respect to molecular mechanisms involved.     

CIRSE Vascular Closure Device Registry

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.     

Large diaphragmatic defect: are skeletal deformities preventable?

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.     

Кoличecтвeннoe oпpeдeлeниe cпeцифичecкич ингибитopoв пoлимepизaции фибpинa. Eдиницы тopмoзящeй aктивнocти

Fibrinogen and its degradation products are to be regarded as specific inhibitors of fibrin polymerization because of the protein-protein recognizing manner of their action. Some effects of specific inhibitors, e.g. prolongation of clotting time are easily measurable, yet, a proper quantitative presentation of the inhibitory activity is a separate problem requiring consideration. No series of direct measurements of inhibitory effects can adequately reflect the relative activities of inhibitors in question as the inhibitor concentration - effect dependence is non-linear. In Figure 1 curves for fibrinogen and fragment D are shown. Ordinate - relative prolongation of pure fibrin monomer clotting, abscissa - inhibitor concentration. The curves suggest some cooperativity in fibrin-inhibitor interactions. Dotted lines indicate a striking change in relative activity of the two inhibitors due to altering the concentration chosen for the activity-comparison test. Thus, the mere values of the inhibitory effects can give hardly more than semi-quantitative hints on the intrinsic inhibitory activities. To gain true values we made resort to the estimated weight quantities of inhibitors producing the same effect. As these quantities are obviously inversely proportional to the specific activity values of the respective inhibitors they immediately provide the information wanted. An arbitrary standard was chosen: 10-fold retardation of fibrin monomer clotting at definite medium conditions. So it became possible to express activities of specific inhibitors in terms of special units. In mixtures of inhibitors the overall activity (the total amount of activity units) was found equal or near to the sum of unit contents of all the components present. Consequently, the behaviour of components is virtually additive (Tables 2 and 3). This additivity means that the effects of individual components enhance each other in the same co-operative manner as the effectiveness of a single inhibitor is raised by its concentration increase (Figure 1). The arithmetical sum of separately exerted effects of components generally proved far below the actual effect of the corresponding mixture. This difference, as expected theoretically, was maximal if the components were represented in equivalent amounts, and it was less for a two-component system than for a three-component one. These results warrant the adequacy of the new method. Following determinations were carried out with this method. In fibrinogen solutions subjected to tryptic hydrolysis the activity unit content increased by about 300 per cent under optimal conditions, i.e. in the presence of Ca²⁺ and at 1:2250 trypsin-fibrinogen weight ratio. Specific activities of fibrinogen and purified fragment D were found to amount to 1.4 and 10.9 units per mg respectively. Throughout our work on fragment D isolation from tryptic fibrinogen digests activity yields were determined to check the procedure under trial.     

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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.     

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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。