A case of slipped capital femoral epiphysis results from hypophosphatemic rickets： treatment and midterm follow-up

In this case, a male patient presented with a clinically and radiographieally unstable slipped capital femoral epiphysis （SCFE） as well as slipped calcaneal epiphysis years. Subsequent thorough at the age of 23 work-up revealed that he had some features of rickets and labo- ratory test demonstrated he had hypophos- phatemia （2.3mg/dl）, normocalcemia, normal vi- tamin D metabolite levels, and secondary hy- perparathyroidism.     

间充质干细胞的来源

目的:间充质干细胞具有强大的增殖能力和多向分化潜能,文章对其主要的来源途径予以综述。资料来源:应用计算机检索Medline1991-01/2006-01期间的相关文章,检索词为“mesenchyma stem cells,origin,research progress”,并限定文章语言种类为English。同时计算机检索中国期刊全文数据库1998-01/2006-10期间的相关文章,检索词为“间充质干细胞,来源,研究进展”,并限定文章语言种类为中文。资料选择:对资料进行初审,并查看每篇文献后的引文。纳入标准:①间充质干细胞的起源。②间充质干细胞研究进展、干细胞的分离及鉴定。排除标准:重复研究、个案报告或Meta分析类文章。资料提炼:共收集到96篇相关文献,40篇文献符合纳入标准,排除的56篇文献为内容陈旧或重复。符合纳入标准的40篇文献中,分别涉及骨髓、肌肉、脐血、胎盘、外周血、脂肪组织、血管及其他来源的间充质干细胞。资料综合:间充质干细胞是属于中胚层的一类多能干细胞,具有强大的增殖能力和多向分化潜能,动物模型试验和临床应用研究也取得了一定的效果。间充质干细胞来源广泛,易于获得,临床上为神经损伤及其他系统的损伤修复提供了更为广泛的途径。结论:间充质干细胞主要来源于骨髓、肌肉、脐血、外周血、胎盘等组织,具有广阔的应用前景。     

颈动脉血管重构特征在自发性高血压大鼠体内的表现

目的:血管重构是高血压的重要病理变化,是高血压导致器官损害的结构基础。实验观察自发性高血压大鼠颈动脉中层组织学的相关变化,以验证血管重构的特点。方法:实验于2006-06/2007-03在福建医科大学附属协和医院心血管内科实验室完成。①实验材料及分组:12周龄雄性自发性高血压大鼠10只,同性别周龄的WKY大鼠10只为对照,喂养18周后终止实验。②实验过程及评估:开始及每2周测鼠尾收缩压。实验结束后,麻醉后取颈动脉,行苏木精-伊红、苦味酸-天狼星红、弹力纤维和胶原纤维的双重染色(P/VB法),利用计算机辅助成像系统测算颈动脉中膜厚度、腔径、血管中膜厚/腔径、中膜横截面积、中膜细胞平均核面积及中膜的胶原面积百分比、弹性纤维面积百分比、弹性纤维面积与胶原面积的比值。SP免疫组织化学染色检测α-平滑肌肌动蛋白、增殖细胞核抗原、纤维粘连蛋白、层粘连蛋白等抗原在颈动脉壁的表达,并计算颈动脉中膜细胞增殖指数;以原位末端标记法标记血管壁的凋亡细胞,计算颈动脉中膜细胞凋亡指数。结果:20只大鼠全部进入结果分析。①自发性高血压大鼠实验开始和结束前的收缩压均>150mmHg,高于WKY大鼠(P<0.01)。②自发性高血压大鼠颈动脉中膜厚度、腔径、中膜厚度/腔径、中膜横截面积、中膜胶原面积百分比均高于WKY大鼠(P<0.01),而中膜弹性纤维面积百分比、弹性纤维面积与胶原面积比值均低于WKY大鼠(P<0.01)。③α-平滑肌肌动蛋白在两组大鼠颈动脉中膜均可表达,提示中膜细胞为血管平滑肌细胞。④自发性高血压大鼠中膜血管平滑肌细胞平均核面积大于WKY大鼠(P<0.01),中膜细胞增殖指数与WKY大鼠差异无显著性(P>0.05),中膜细胞凋亡指数显著低于WKY大鼠(P<0.01)。⑤自发性高血压大鼠颈动脉中膜纤维粘连蛋白、层粘连蛋白的光密度值(IA值)及染色阳性面积百分比高于WKY大鼠(P<0.01)。⑥颈动脉中膜血管平滑肌细胞凋亡指数与中膜横截面积呈显著负相关(r=-0.872,P<0.01);纤维连接蛋白表达的吸光度值与中膜横截面积呈显著正相关(r=0.954,P<0.01)。结论:自发性高血压大鼠颈动脉存在明显的重构,其特点为中膜肥厚、平滑肌细胞肥大、凋亡减少及胶原、纤维粘连蛋白、层粘连蛋白的过度沉积。     

A prophylactic and therapeutic AIDS vaccine containing as a component the innocuous Tat Toxoid

Extracellular Tat can act as a viral toxin on uninfected cells of different tissues, including the CNS and the immune system, thus in order to immunize humans against Tat we have prepared a biologically inactivated but immunogenic Tat (Tat Toxoid). Tat Toxoid is not toxic in mice even at high doses. It triggers high levels of specific Tat Abs in the mouse and rabbit. Furthermore, in humans Tat Toxoid immunization was safe and induced in seronegatives persistent high levels of Tat Abs and in immunodeficient patients a significant rise of these specific Abs. Facing acute HIV-1 infection, the presence of high level of circulating Tat Abs promoted by Tat Toxoid vaccine should prevent Tatinduced immunosuppression and allow anti-HIV-1 cellular response to develop. As a consequence, early release of β-chemokines could enhance host resistance towards HIV-1, and, in infected people, inhibit viral replication and evolution towards AIDS.     

Thalamic diffusion differences related to cognitive function in white matter lesions

Cerebral white matter lesions (WMLs) are related to cognitive deficits, probably due to a disruption of frontal–subcortical circuits. We explored thalamic diffusion differences related to white matter lesions (WMLs) and their association with cognitive function in middle-aged individuals. Ninety-six participants from the Barcelona-AsIA Neuropsychology Study were included. Participants were classified into groups based on low grade and high grade of periventricular hyperintensities (PVHs) and deep white matter hyperintensities (DWMHs). Tract-Based Spatial Statistics was used to study thalamic diffusion differences between groups. Mean fractional anisotropy (FA) values in significant areas were calculated for each subject and correlated with cognitive performance. Participants with high-grade PVHs and DWMHs showed lower FA thalamic values compared to those with low-grade PVHs and DWMHs, respectively. Decreased FA thalamic values in high-grade DWMHs, but not high-grade PVH, were related to lower levels of performance in psychomotor speed, verbal fluency, and visuospatial skills. Thalamic diffusion differences are related to lower cognitive function only in participants with high-grade DWMHs. These results support the hypothesis that fronto–subcortical disruption is associated with cognitive function only in DWMHs.     

GeneYenta: A Phenotype­Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation

Advances in next‐generation sequencing (NGS) technologies have helped reveal causal variants for genetic diseases. In order to establish causality, it is often necessary to compare genomes of unrelated individuals with similar disease phenotypes to identify common disrupted genes. When working with cases of rare genetic disorders, finding similar individuals can be extremely difficult. We introduce a web tool, GeneYenta, which facilitates the matchmaking process, allowing clinicians to coordinate detailed comparisons for phenotypically similar cases. Importantly, the system is focused on phenotype annotation, with explicit limitations on highly confidential data that create barriers to participation. The procedure for matching of patient phenotypes, inspired by online dating services, uses an ontology­based semantic case matching algorithm with attribute weighting. We evaluate the capacity of the system using a curated reference data set and 19 clinician entered cases comparing four matching algorithms. We find that the inclusion of clinician weights can augment phenotype matching.     

自体骨粉移植修复下颌骨部分缺损的组织学检测

目的:通过动物实验进行组织学光镜及扫描电镜检测,观察自体骨粉移植修复下颌骨缺损的愈合过程。方法:实验于2005-05/11在南方医科大学动物实验中心完成,选用12只健康雄性大耳白兔。实验分为两组:一侧为自体骨粉移植组,另一侧为空白对照组,均采用自体左右对照。①缺损模型建立:于双侧下颌骨体部下缘用磨削机器各造成1.0×1.0cm的全层骨缺损。②自体骨粉移植:将所有自体骨粉回填一侧缺损处作为自体骨粉移植组,另一侧缺损旷置作为空白对照组。③分别于术后2,4及8周各处死4只动物,获取整块下颌骨标本作组织学光镜及扫描电镜检测,光镜切片应用苏木精-伊红染色,扫描电镜只观察自体骨粉移植组标本。结果:12只大耳白兔均进入结果分析,无脱失。①两组标本组织学观察结果:自体骨粉移植组术后2周时形成薄层骨痂;4周时为新生的骨小梁,但排列紊乱;8周时骨小梁形成的编织骨已逐渐向板层骨过渡。空白对照组术后8周时骨小梁分布仍稀疏。②自体骨粉移植组标本超微结构观察结果:术后4周骨基质钙化程度提高,大量成骨细胞位于骨陷窝内。缺损间隙逐渐变窄形成多孔较疏松的新骨组织,新生骨小梁形成,新骨超微结构呈“蜂窝状”。8周时骨小梁钙化程度继续升高,形成的板状骨排列出现一定方向性,新生骨组织由多孔疏松的结构向致密性结构转化,新原骨组织基本上融为一体产生骨性结合,髓腔相通。结论:自体骨粉移植修复下颌骨成骨可靠,愈合加快,愈合方式以骨传导爬行替代为主,且应用方法简便。     

三维CT评估发育性髋关节脱位的骨性形态学特征

目的:通过使用CT三维测量髋臼发育情况及髋臼对股骨头覆盖率对比性观察,整体反映髋臼发育情况。方法:①观察对象:选择2003-06/2005-04对41例发育性髋关节脱位患者55个髋关节。其中男12例,女29例;年龄18个月～6岁。患髋右侧23例,左侧32例,其中双侧12例。健康侧27髋。患儿家属均知情同意。②实验方法:所有患儿使用PQ6000型多层螺旋CT扫描,扫描数据进行骨组织三维重建。将测量数据制成图表,显示三维的髋臼发育情况,并量化表示髋臼的缺损情况。③实验评估:计算不同截面正常侧髋臼指数、中心边缘角(假设符合正态分布)的均数、标准差、分布范围及95%可信区间。观察发育性髋关节脱位术前术后骨骼形态学变化。分别在术前、术后测量患者患侧髋臼指数、中心边缘角和前倾角,测量值均分别与正常值进行对比。结果:患侧55个髋,健康侧27髋,均进入结果分析。①发育性髋关节脱位术前术后骨骼形态学变化:术前55侧发育性髋关节脱位髋关节脱位程度为,参照T"nnis分类方法,Ⅰ度5髋(9.1%),Ⅱ度11髋(20%),Ⅲ度32髋(58.2%),Ⅳ度7髋(12.7%)。术后患者均表现髋臼α角均>90°,头臼呈同心圆对位,Shenton线连续,股骨头较术前明显发育,原先未出现头骺的患者,出现头骺,但较正常仍偏小;髋臼口呈类圆形,髋臼边缘欠光滑,髋臼整体呈一定程度前倾。②术前术后髋臼指数、中心边缘角和前倾角变化对比:术后患者的髋臼指数和前倾角与正常对照组之间差异无显著性(P>0.05),术后患者的中心边缘角大于正常对照组[(33.4±2.6)°(29.1±2.0)°,P<0.01],术后患者的髋臼指数和前倾角测量值均小于术前(P<0.01)。结论:介绍了一种对髋臼形态测量的新方法,它能够全面反映髋臼的发育情况,不但增加了对中心边缘髋臼病理改变的认识程度,还为手术提供了精确的可信度较高的矫形设计方案。