Comparison of the effectiveness and safety of MPL 9000 and Lithostar Modularis shockwave lithotriptors: treatment results of 263 children

In this study, we aimed to compare the treatment results of two different shock wave lithotripsy (SWL) machines used in the management of pediatric urolithiasis. Between January 1993 and October 2004, Dornier MPL 9000 (electrohydraulic) had been used, and since then Siemens Lithostar Modularis (electromagnetic) has been used. The last evaluation was done 3 months after SWL treatment in terms of the success rate, use of anesthesia and complications. A total of 263 children (171 boys and 92 girls), with an age range of 9 months–14 years (mean age 8.1 ± 3.8 years) were included in this study. Of the patients treated with the Dornier MPL 9000, 60.1% (173/104) required general anesthesia and 69 needed sedation. In contrast, for all patients treated with the Lithostar Modularis necessitated only sedo-analgesia (90 children). The hospital stay was shorter for Siemens Lithostar Modularis than those of Dornier MPL 9000 (26.2 vs. 35.5 h, P = 0.03). The success rate for the electromagnetic unit (86.5%) was almost identical that achieved with the electrohydraulic unit (85.2%) in the stones for the different location. Success rates were compared for stone burden subsets, the differences were insignificant for both lithotriptors (P > 0.05, for all). The electromagnetic unit had a significantly higher success rate for distal ureteral calculi (86.2 vs. 54.5%, P = 0.034). The efficiency quotients (EQ) for distal ureteral calculi were significantly different in favor of electromagnetic machine (56 vs. 40%). The complication rates for SWL were not significantly different for electrohydraulic and electromagnetic lithotriptors (8.7 and 6.2%, respectively). This study showed that SWL treatment was effective and safe in pediatric urolithiasis using both electrohydraulic and electromagnetic machines. Electromagnetic machine was more effective than electrohydraulic one for distal ureteral calculi. Additionally, the electromagnetic lithotriptor has significant clinical advantages over the electrohydraulic lithotriptor in terms of anesthesia requirements, hospitalization duration and fluoroscopic targeting.     

西门子ADVIA Workcell自动化系统自动检验流水线简介

实验室自动化系统又称全实验室自动化,是指为了实现临床实验室中的几个检测系统如临床化学、免疫学、血液学等的整合,将不同的分析仪器与分析前和分析后的实验室分析系统通过自动化传输轨道串联起来,在信息化网络的主导控制下,构成流水线作业的组合,达到流程最优化,效率最大化的目的。     

西门子磁共振技术进展

自1980年始,西门子医疗便致力于磁共振技术的发展.随着世界磁共振技术的迅速发展和市场的更高需求,西门子医疗磁共振事业部秉承核心理念,不断推陈出新,始终居于行业龙头位置.笔者从磁场强度、运行成本、开放性和舒适度、便利性、系统稳定性以及系统拓展性等几个方面详细解读西门子磁共振技术的卓越发展.     

Siemens大疱性鱼鳞病基因突变国内首次报道

为研究Siemens大疱性鱼鳞病患者基因突变情况，对1例Siemens大疱性鱼鳞病患者皮损进行组织病理及电镜观察，并采用聚合酶链反应及DNA直接测序方法，检测患者基因突变。结果发现该患者角蛋白2e(K2e)基因存在杂合点突变E493K。     

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

A new variant of congenital exfoliative ichthyosis in two related Bedouin families is reported. The ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. The prominent well-demarcated areas of denuded skin in moist and traumatized regions resembled the 'mauserung' phenomenon of ichthyosis bullosa of Siemens (IBS). Unlike in IBS, epidermolysis is absent on histological examination. Electron microscopy revealed a prominent intercellular oedema and numerous aggregates of keratin filaments in basal keratinocytes. Abnormal keratin (K) 1 expression was seen in the affected epidermis; however, all other keratins, including K2e, had a distribution comparable to that seen in normal controls. A maximum two-point LOD score of 2.53 and multipoint LOD score of 3.76 were obtained for marker D12S390, suggesting linkage to the type II keratin cluster on chromosome 12q13. Sequencing of both the K1 gene, the promotor and the 3' calcium regulatory region did not reveal a mutation. K2e and K5 genes, as well as the genes harboured within the minimal region, such as retinoic acid receptor gamma, sterol O-acyltransferase 2, integrin beta7 and insulin-like growth factor binding protein-6, were also excluded. This combination of clinical, histological, ultrastructural and genetic features has not been previously reported in other congenital exfoliative ichthyoses. We therefore suggest that it represents a new form of exfoliative ichthyosis.     

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs. Phenotypic variation, however, was also observed with some individuals exhibiting unusual clinical features. Specifically, the index patient was erythrodermic at birth; she subsequently developed a widespread pustular eruption. Erythroderma is classically absent in IBS and pustulation is very unusual. She also had hypertrichosis of the limbs, as did an affected female first cousin. This has not previously been reported in IBS. Electron microscopy showed complex aggregates of keratin in the spinous and granular layers associated, in places, with remarkably little cell lysis. Sequencing of genomic DNA revealed a mutation (E493K) in keratin 2e. A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease.     

The molecular basis for inherited bullous diseases

In the past 5 years enormous progress have been made in our understanding of the molecular basis for a number of inherited skin diseases characterized by easy blistering of the skin and the mucous membranes after minor physical trauma. This increased fragility of the skin or its appendages is due to molecular defects in genes coding for different intra- and extracellular structural proteins which are responsible for mechanical strength at their sites of expression. These diseases encompass the group of epidermolysis bullosa and disorders of cornification such as bullous forms of ichthyosis, palmoplantar keratoderma, and pachyonychia congenita. On the basis of clinical, morphological, and ultrastructural observations the epidermolysis bullosa group has been divided into three major categories. In epidermolysis bullosa simplex blister formation appears within the basal cell layer of the epidermis, and many mutations have been found in the genes of keratin 5 and 14 which are both expressed in basal keratinocytes. Epidermolytic hyperkeratosis leads to an epidermal separation in the suprabasal cell layers. In these patients numerous point mutations have now been described in the suprabasally expressed genes of keratin 1 and 10. In ichthyosis bullosa of Siemens blisters occur in the more upper suprabasal epidermis coincidental with the expression of keratin 2e, and mutations have been detected in the corresponding gene. In epidermolytic palmoplantar hyperkeratosis the suprabasal epidermal splitting is restricted to palms and soles of the patient. In keratin 9, which reveals such an exclusive expression pattern, molecular defects have indeed been recognized. Most recently in two different clinical subtypes of pachyonychia congenita, which is characterized by defective nails and focal palmoplantar hyperkeratosis, point mutations have been found in the genes coding for keratins 6, 16, and 17. In junctional epidermolysis bullosa the separation takes place within the dermal-epidermal basement membrane at the level of the lamina lucida, and mutations have been found in three genes coding for different laminin chains, in the ₄ gene of ₆₄ integrin, and in the gene of collagen XVII. In dystrophic epidermolysis bullosa the tissue separation occurs beneath the basement membrane within the papillary dermis at the level of the anchoring fibrils, and several mutations have been identified in the collagen VII gene. The rapid unraveling of molecular defects in these disabling or even lethal inherited skin diseases makes possible a more precise and earlier prenatal diagnosis, creates new options for suitable therapeutic regimens, and even offers the hope of curing these diseases by means of somatic cell gene therapy.Abbreviations BM Basement membrane - BPAg Bullous pemphigoid antigen - DEB Dystrophic epidermolysis bullosa - EB Epidermolysis bullosa - EBS Epidermolysis bullosa simplex - EHK Epidermolytic hyperkeratosis - EPPK Epidermolytic palmoplantar keratoderma - IBS Ichthyosis bullosa of Siemens - JEB Junctional epidermolysis bullosa - KIF Keratin intermediate filaments - NC Noncollagenous domain - NEPPK Nonepidermolytic palmoplantar keratoderma - PC Pachyonychia congenita     

Hallopeau–Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene

Epidermolysis bullosa (EB) is a group of inherited mechanobullous skin disease. The dystrophic EB (DEB), one subtype of EB, is inherited in an autosomal dominant DEB or in an autosomal recessive (RDEB). DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. Over 300 pathogenic mutations have been detected within COL7A in DEB. Patients with the Hallopeau‐Siemens type (HS‐RDEB), most severe form of DEB, frequently have premature termination codon (PTC) mutations on both alleles. PTC mutations on both alleles result in depleted mRNA and α1 helix, and failure to form the triple helix structure characteristic of type VII collagen. As patients with HS‐RDEB usually have a pair of heterozygous PTC mutations, there have been rarely reported homozygous ones in HS‐RDEB. We report the first case of HS‐RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. This case report suggests the positional effect of PTC mutations and vigilance against early infantile death in EB including HS‐RDEB.     

西门子SOMATOM Spirit双层螺旋CT准直器的维修调节方法

介绍一例西门子SOMATOM Spirit双层螺旋CT在运行中准直器故障,对维修中对准直器的维修调节方法进行总结。