Human neural transplantation

Great advances in neurobiology have resulted from 100 years of neural transplantation research. In the last 20 years, there has been a focus on using neural transplantation to repair the damaged central nervous system (CNS) utilising experimental animal models of various human neurodegenerative disease and CNS injury. Since 1985, there has been a rapid proliferation of adrenal medullary autograft transplantation to the caudate nucleus of humans with Parkinson's disease. However, this operation proved to be unsuccessful and was associated with unacceptable morbidity. Implantation of human fetal mesencephalon into patients with severe parkinsonism has supplanted the adrenal operation and has produced promising results, with some patients reported to improve markedly and some evidence of graft survival noted on positron emission tomography (PET). Host tissue recovery appears to be an important mechanism for this clinical improvement. The optimal technique is to use three to four fetuses from induced abortions of 6.5 to 8 weeks gestation, with multiple stereotactic implants into the putamen and caudate nucleus. Many biological questions still remain and the community remains troubled by the ethical problems of using fetal tissue obtained from abortions. This procedure is still experimental and should be restricted to a few centres with excellence in cell and molecular biology. A multicentre study is needed to more carefully evaluate CNS transplantation. Cloned neural precursor cells or immortalized embryonic cell lines genetically modified to manufacture selected growth factors or neurotransmitters may offer an alternative to the use of human fetal tissue. Much more experimental animal research is necessary before transplantation can be used to treat other CNS maladies.     

Arthroscopic capsulorrhaphy formultidirectional instability

Multidirectional shoulder instability is a common affliction and is increasingly recognized as a debilitating condition in young, athletic patients. Most patients with this condition are in their third decade and have a history of macrotrauma or repetitive microtrauma. Complaints range from frank instability to instability with pain, or to pain alone. These patients may display clinical signs of instability, impingement, or both on physical examination. Generalized ligamentous laxity or shoulder laxity alone are usually present. A positive sulcus sign remains the most sensitive clinical test in distinguishing these patients, even though no data is available on the sensitivity or specificity of this examination. The greater majority of patients are successfully treated with an exercise program stressing rotator cuff and scapular stabilizer strengthening. When patients do not respond to conservative treatment, open capsular shift has been recommended to restore joint stability. Early successes with the arthroscopic treatment of anterior shoulder instability have led to the development of similar procedures for the treatment of multidirectional instability. This paper describes an arthroscopic, multiple suture capsulorrhaphy for the treatment of multidirectional shoulder instability, which is a modification of the procedure advocated by Caspari and reviews the 2-year results of the first 19 patients treated.     

γ射线诱发人正常肝细胞基因组不稳定性研究

目的探讨电离辐射诱发的基因组不稳定性效应。方法采用^60Co γ射线照射人正常肝细胞，检测克隆形成率和微核发生率，利用单细胞凝胶电泳（SCGE）技术检测DNA损伤情况。照射2、4、6、8和10Gy后传代培养，在40代后各剂量组再次统一照射2Gy，进行辐射损伤的检测。结果首次照射后，克隆形成率随受照剂量的增大而降低。存活细胞经二次照射后，SCGE结果和微核发生率结果表明，首次照射剂量与子代二次照射后的损伤程度存在剂量效应关系。结论γ射线不仅在肝细胞中产生直接的生物效应，而且还可以诱发产生可遗传的基因组不稳定性，使子代细胞中的突变频率增加，表现出滞后的遗传改变。二次事件的放大作用是研究基因组不稳定性的一种较好方法。     

重建钛板枢椎椎弓根螺钉及颗粒状植骨枕颈融合术

目的 探讨重建钛板螺钉及颗粒状自体松质骨植骨在枕颈融合中的应用。方法 2002年4月～2005年1月，选择枕颈区不稳定患者19例，年龄31～67岁；病程3个月～2年。其中枕寰枢椎复合畸形8例，陈旧性寰枢椎骨折脱位8例，类风湿性关节炎所致寰椎前脱位2例，枢椎齿状突肿瘤1例。JOA脊髓功能评分平均9．8分。使用重建钛板和枢椎椎弓根螺钉固定枕颈部，同时枕骨与枢椎后弓间颗粒状自体松质骨植骨。结果 术中、术后无并发症发生，切口Ⅰ期愈合。19例均获随访6个月～2年8个月，平均16个月，均获得了骨性融合。无神经血管损伤，无断钉、断板及内固定松脱。JOA脊髓功能评分平均达14．4分。结论 重建钛板枢椎椎弓根螺钉固定可靠，置入方便，自体颗粒状松质骨具有较高的融合率，在枕颈融合中效果满意。     

利培酮治疗与细胞色素P4502D6/C188T酶基因多态性的关联分析

目的　研究利培酮临床效应的个体差异与其代谢酶细胞色素P4 5 0 2D6 (cytochromeP4 5 02D6 ,CYP2D6 )酶基因多态性的相关性。方法　对 88例符合CCMD 3精神分裂症诊断标准的患者和 96例健康对照者作病例 -对照分析。精神分裂症患者给予利培酮治疗 8周 ,用阳性和阴性症状量表 (posi tiveandnegativesymptomscale ,PANSS)评分评价利培酮疗效。采用聚合酶链反应扩增及限制性片段长度多态性 (PCR RFLP)技术对CYP2D6exonⅠ的C188T位点突变进行检测 ,分析利培酮临床效应与其主要代谢酶CYP2D6 /C188T酶基因多态性的相关性。结果　中国上海地区人群的CYP2D6 /C188T突变率(弱代谢型 )为 36 .3% ,病例组和正常对照组间基因型频率总体分布比较无显著差异 (χ2 =1.15 ,df=2 ,P >0 .0 5 ) ,两组间的等位基因频率之间比较也无显著性差异 (χ2 =0 .78,df=1,P >0 .0 5 )。进行性别及有否家族史分组后分析 ,亦无差异存在 ,且CYP2D6 /C188T突变与利培酮临床效应之间并无相关性 (χ2 =1.12 ,df=2 ;χ2 =0 .0 3,df=1,P >0 .0 5 )。结论　未发现中国人CYP2D6 /C188T多态性与利培酮临床效应的个体差异有相关性。     

全自动遗传分析系统的原理及其临床应用

全自动核酸测序分析系统具有遗传信息检测和分析功能,随其应用范围增加,开始进入临床。本文介绍了该仪器的工作原理、结构、功能、操作要点以及临床医学应用。     

使用颗粒状自体松质骨植骨的寰枢椎后路融合术

介绍一种在头环背心保护下用颗粒状自体松质骨植骨的寰枢椎后路融合术。对３４例寰枢椎不稳的病人施行了寰枢椎后路融合术。用头环背心维持寰椎的复位，将颗粒状的自体松质骨植于寰椎后弓和枢椎椎板的背面，不用内固定，直至植骨融合。３１例病人获得了随访，平均随访时间３０个月，其中２９例融合成功，术后头不背心固定时间平均为１３周，有３例出现了寰椎再移位。颗粒状自体松质骨比块状的全层骨更有利于融合。用头环背心的外固定     

节段性不稳定在颈椎病性脊髓病发病中的作用

复习１００例颈椎病性脊髓病患者的临床资料，并以正常成人４９例作为对照，在颈椎侧位及伸、屈位Ｘ线片上测量椎管中矢径、椎体中矢径、功能Ⅰ径、功能Ⅱ径，颈伸位时椎体后滑距离，椎体后缘骨刺。将颈椎管中矢径比值小于０．７５作为发育性椎管狭窄的判断标准，中矢径比值小于０．７５为椎管狭窄组（Ａ组），其余为非狭窄组（Ｂ组），将正常成人组定为Ｃ组。对所测数据进行统计学处理。用ＪＯＡ法对脊髓病患者（Ａ、Ｂ组）的颈脊髓功能做出评估。结果显示：Ａ、Ｂ组中节段性不稳定（ｓｅｇｍｅｎｔａｌｉｎｓｔａｂｉｌｉｔｙ，ＳＩ）发生率明显高于正常人，但不稳定程度（颈椎后滑）无明显差异。脊髓病损程度Ａ组重于Ｂ组，在Ａ组中与滑移程度正相关。Ａ组功能Ⅰ径＜Ⅱ径，Ｂ组功能Ⅰ径＞Ⅱ径，提示节段性不稳定合并发育性椎管狭窄时具有致病作用。颈伸位时椎体后滑使功能Ⅰ径小于１２ｍｍ为脊髓受压的临界标准。     

Dislocation of the second through fifth carpometacarpal joints

We report a case of dislocation of the second through fifth carpometacarpal joints and review the mechanism of injury and radiographic findings in such injuries.     

Clinical impact of CCM mutation detection in familial cavernous angioma

Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.