外胚层发育不全无汗综合征患者基因突变的检测

目的：检测外胚层发育不全无汗综合征患者的EDA基因的突变。方法：提取外胚层发育不全无汗综合征患者的基因组DNA，采用PCR方法扩增EDA基因的第5、9外显子，直接将PCR产物送测序。结果：确证该患者是X染色体隐性遗传的外胚层发育不全无汗综合征，患者EDA基因的第5外显子存在突变位点：918位碱基C突变为A，致使226位线氨酸变为终止码，结论：该患者是X染色隐性遗传的外胚层发育不全无汗综合征，其EDA基因5外显子存在突变。     

The supernumerary cheek tooth in tabby/EDA mice-a reminiscence of the premolar in mouse ancestors

OBJECTIVE: A supernumerary cheek tooth occurs mesially to the first molar in tabby/EDA (Ta) mice affected by hypohidrotic ectodermal dysplasia. The supernumerary tooth (S) has been hypothetically homologized to the premolar, which has disappeared during mouse evolution. DESIGN: This hypothesis was tested using available morphological data on the lower cheek teeth in wild type (WT) and Ta mice. RESULTS: The presence of S is accompanied by a reduction in the mesial portion of the M(1) in mutant mice. 3D reconstructions suggest that the S in Ta homo/hemizygous embryos originates from a split off the mesial portion of the first molar (M(1)) cap. In WT embryos, two vestigial tooth primordia are transiently distinct in front of the M(1). The distal vestige has the form of a wide bud and participates during the development of the mesial portion of the M(1). This bud has been homologized with the vestigial primordium of the fourth premolar of mouse ancestors. The premolar disappearance coincided with a mesial lengthening of the M(1) during mouse evolution. The incorporation of the distal premolar vestige into the mesial part of the M(1) in WT embryos can be regarded as a repetition of the premolar disappearance during evolution. CONCLUSION:: Ontogenetic and phylogenetic data support that the S in Ta mice arises due to the segregation of the distal premolar vestige from the molar dentition and thus represents an evolutionary throwback (atavism).     

纤维粘连蛋白片段真核表达载体pcDNA3．1（＋）-EDA的构建

目的构建纤维粘连蛋白（fibronectin，FN）基因的EDA外显子的真核表达载体，以研究EDA对涎腺腺样囊性癌（slivary adenoid cystic carcinoma，SACC）生物学行为的影响。方法以RT-PCR技术从口腔鳞状细胞癌（oral squamous cell carcinoma）细胞株KB中扩增出外显子EDA，克隆人pcDNA3．1（＋）真核表达载体，用PCR和限制性内切酶酶切、DNA测序鉴定真核表达载体pcDNA3．1（＋）-EDA。结果PCR、酶切、DNA测序鉴定证明成功构建了pcDNA3．1（＋）-EDA真核表达载体，DNA测序显示重组质粒含有与EDA片段基因序列完全相等的基因。结论成功构建了纤维粘连蛋白（fibronectin，Fn）基因的EDA外显子的真核表达载体pcDNA3．1（＋）-EDA。     

3D‐electron microscopic characterization of interstitial cells in the human bladder upper lamina propria

Aims

To explore the ultrastructure of interstitial cells in the upper lamina propria of the human bladder, to describe the spatial relationships and to investigate cell‐cell contacts.

Methods

Focused ion beam scanning electron microscopy (FIB‐SEM), 3‐View SEM and confocal laser scanning microscopy were used to analyze the 3D ultrastructure of the upper lamina propria in male and female human bladders.

Results

3View‐SEM image stacks as large as 59 × 59 × 17 μm³ (xyz) at a resolution of 16 × 16 × 50 nm³ and high resolution (5 × 5 × 10 nm³) FIB‐SEM stacks could be analyzed. Interstitial cells with myoid differentiation (mIC) and fibroblast like interstitial cells (fIC) were the major cell types in the upper lamina propria. The flat, sheet‐like ICs were oriented strictly parallel to the urothelium. No spindle shaped cells were present. We furthermore identified one branched cell (bIC) with several processes contacting urothelial cells by penetrating the basal membrane. This cell did not make any contacts to other ICs within the upper lamina propria. We found no evidence for the occurrence of telocytes in the upper lamina propria.

Conclusions

Comprehensive 3D‐ultrastructural analysis of the human bladder confirmed distinct subtypes of interstitial cells. We provide evidence for a foremost unknown direct connection between a branched interstitial cell and urothelial cells of which the functional role has still to be elucidated. 3D‐ultrastructure analyses at high resolution are needed to further define the subpopulations of lamina propria cells and cell‐cell interactions.     

大型综合公立医院效率特征及变动研究

目的:从静态与动态两个层次分析大型综合公立医院的效率特征及变动趋势。方法:采用数据包络分析的C~2R-DEA和BC~2-DEA模型与Malmquist指数模型,利用50家大型公立医院2006—2012年的人员、设备、资产、医疗服务等投入—产出指标,构建适宜分析模型。结果:约10%~12%样本医院处在相对有效运行状态,其配置效率均值与规模效率均值分别为0.956与0.943,接近效率前沿,其效率表现相对较好;而纯技术效率均值、技术效率均值、成本效率均值与整体效率均值分别为0.796,0.784,0.714和0.714,与效率前沿差距较大,其效率表现相对较差。同时,样本医院处于规模报酬递减状态的医院由7.69%增加到26.31%,而处于规模报酬递增状态的医院由80.77%下降到58.34%;其技术进步与Malmquist生产率指数、技术效率指数、纯技术效率指数与规模效率指数的变化保持比较稳定的一致性,并呈现持续改善与稳步发展的趋势。结论:大型公立医院正面临着发展动力与激励机制的转换,不仅需要转变医院管理理念与发展模式,也需要构建有关结构、过程和结果的最佳效率评价标准,以促进包括政府职能在内的医院治理与发展模式的转变。     

Is there a link between ovarian cancer and tooth agenesis?

An epidemiologic study from the year 2008 found a highly significant increase of congenital tooth agenesis in women with ovarian cancer suggesting that a common genetic etiology may predispose women to both conditions. The finding was reminiscent of a previously described family harboring an AXIN2 mutation which could be shown to segregate with both the tooth agenesis and the predisposition to colon cancer transmitted in this family. Since tooth agenesis as a marker for susceptibility to ovarian cancer would be of great relevance to both oncologists and women with inborn missing teeth, the relationship between the two disorders requires a thorough assessment. We examined DNA samples from the ovarian cancer patients who participated in the original study, to look for a possible genetic connection between their ovarian malignancies and tooth agenesis. MSX1, PAX9, AXIN2, EDA, WNT10A, BARX and BRCA1 genes were selected for sequence analysis as they may cause tooth agenesis, are expressed in the female reproductive system, and/or are involved in tumorigenesis in general or specifically in the ovary.Our study revealed evidence that one half of the dually affected patients had an independent causation of the two conditions, thus reducing the previously estimated ovarian cancer risk for women with congenital tooth agenesis quite significantly.     

Effects of grip force on skin conductance measured from a handheld device

Skin conductance (SC) reflects stimulus significance and can be measured by integrating electrodes directly onto a smartphone housing such that they are naturally contacted when gripped. However, grip artifacts naturally arise during operation since grip forces can vary. We explored the effects of grip force on SC to determine feasibility and to draw guidelines on artifact mitigation. For this purpose, a prototype was built with integrated SC electrodes with colocated force sensors, and data was collected from 24 participants gripping the prototype across different grip force conditions. Our analysis showed that static forces greater than 2.0 N were associated with significant SC distortion, and artifacts induced from dynamic grip forces were buffered if the SC level was at least 1.1 microsiemens. Our findings are relevant for future applications of SC sensing on smartphones, which may enable interesting and highly contextual user experiences.     

Differences between the early and advanced stages of rheumatoid arthritis in the expression of EDA-containing fibronectin

In the present study the expression of alternatively spliced synovial EDA-containing FN (EDA-FN) was analyzed in plasma and synovial fluid samples of rheumatoid arthritis (RA) patients with from 2 months to 20 years disease duration. The patient samples were divided into groups: those with early, established, and late progressive radiographic changes as well as those with different disease activity established by a CRP concentration. The expression of EDA-FN was determined by sandwich-type ELISA using a specific anti-EDA monoclonal antibody. The relative amount of EDA-FN in synovial fluid, but not in plasma samples, was significantly lower in the early RA group than in established and late RA. In contrast, its level did not correlate with the CRP concentration. Synovial EDA-FN might be used as a supplemented marker of early RA.