Bilateral Implantation of Centromedian‐Parafascicularis Complex and GPi: A New Combination of Unconventional Targets for Deep Brain Stimulation in Severe Parkinson Disease

Objectives. Traditional deep brain stimulation (DBS) at the subthalamic nucleus (STN) has proved to be efficacious on core Parkinsonian symptoms. However, very disabling l ‐dopa–induced abnormal involuntary movements (AIMs) and axial signs are slightly affected, suggesting that we target less conventional targets. Our candidates for DBS were the globus pallidus internus (GPi) plus the intralaminar thalamic complex (Pf or CM), given its extensive functional links with basal ganglia nuclei. Materials and Methods. The routine utilization of our innovative stereotactic apparatus allows us to implant, at the same time, both the CM‐Pf complex together with the GPi in six Parkinson disease patients. Both intraoperative and postoperative neurophysiologic assessments helped us recognize functional subregions while optimizing implantation of electrodes. Unified Parkinson disease rating scale (UPDRS) motor scores, AIMs, and freezing were carefully blindly evaluated for each condition. Results. A significant amelioration of UPDRS scores was achieved by simultaneous activation of both targets. CM‐Pf activation was only slightly effective in reducing rigidity and akinesia, but more efficacious on freezing. Not surprisingly, AIMs were peculiarly decreased by the activation of the permanent electro‐catheter in the posteroventral GPi. Conclusions. These findings confirm that, in selected patients, it is conceivable to target structures other than the conventional STN in order to maximize clinical benefit.     

1128例幼儿葡萄糖-6-磷酸脱氢酶筛查结果分析

目的了解盐田区幼儿园儿童葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率。方法采用G6PD/6PGD定量比值法测定G6PD活性,筛查盐田区幼儿园1 128例儿童的G6PD缺乏症发生情况。结果 1 128例儿童中,共筛查出G6PD缺乏症患儿56例,发生率为4.96%。其中男性发生率(6.47%)明显高于女性的发生率(3.50%),差异有统计学意义(P0.05);男性患儿中,重度缺乏的发生率(5.21%)高于中度缺乏的发生率(1.26%),女性患儿中,中度缺乏的发生率(2.28%)高于重度缺乏的发生率(1.22%),差异均具有统计学意义(P0.05)。结论盐田区属G6PD缺乏症的高发地区,应加强人群的筛查,早期发现和诊断G6PD缺乏症对防治该病引起的溶血具有重要意义。     

帕金森病内侧苍白球和丘脑腹外侧核神经细胞放电特点与临床症状的关系

目的：探讨帕金森病（PD）患者内侧苍白球（GPi）和丘脑腹外侧核团（Vop／Vim）细胞电活动与PD症状的关系。方法：24例患者在接受手术的同时采集细胞电活动（GPi：12个,Vop／Vim：12个）和记录肢体肌电图（EMG）。应用单细胞分析,峰阃隔（ISI）、ISI变异系数（CV）和ISI直方图等方法进行分析。用统一帕金森评分量表（UPDRS）进行疗效评估。结果：199个GPi神经元中,33个（16．6％）为与震颤相关放电活动,136个（68．3％）为紧张性放电活动,30个（15．1％）为不规则放电活动。223个Vop／Vim神经元中,110个（49．3％）为与震颤相关的放电活动,49个（22％）为紧张性放电活动,64个（28．7％）为不规则放电活动。ISI分析发现GPi神经元放电频率为78Hz（n=92）而Vop／Vim为24Hz（n=107）。方差分析显示GPi和Vop／Vim的上述三种不同放电模式神经元的数量之间比较差异有统计学意义（P〈0．05）。UPDRS显示,术后GPi对震颤、僵直和运动迟缓的疗效分别为63％、83％和64％;而Vop／Vim术后对震颤、僵直和运动迟缓的疗效分别为94％、66％和49％,提示GPi对僵直改善明显,而Vim对震颤改善显著（P〈0．05）。结论：GPi和Vop／Vim中不同放电模式的神经元可能与PD运动症状有内在联系,支持PD病理生理模型。     

应用荧光斑点法和比值法检测G6PD

目的建立适合于G6PD缺乏的新生儿筛查及确诊方法。方法应用荧光斑点法(FST)对新生儿筛查滤纸干血片进行检测，对可疑阳性者召回，抽静脉血以D6PD／6PGD比值法进行确诊，同时结合新生儿父母亲的G6PD结果，根据遗传关系综合分析。结果FST筛查25000例新生儿，G6PD缺乏阳性率为4．56％，确诊检出率为4．09％。与比值法的符合率为90．4％，G6PD重度缺乏者的符合率为100％，G6PD中间缺乏者的符合率为78．5％，室间质量控制结果与反馈结果符合率为100％。结论FST汀具有高的敏感性、特异性和准确性，方法简便、快捷、费用低廉，可对滤纸干血片标本进行大规模的筛查检测，同时利用比值法进行确诊，可减少假阳性及假阴性，有利于早期诊断和防治G6PD缺乏所致的新生儿黄疸和急性溶血。     

柳州地区女性新生儿高胆红素血症患儿G6PD基因突变类型及临床特点--附七例报告

目的探讨柳州地区籍女性新生儿黄疸儿G6PD基因突变类型与其临床表现特点之间的关系.方法采用基因芯片技术检测了7例柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型,并对其临床表现特点进行分析.结果 (1)7例女患儿G6PD基因突变共检出4种类型,包括G1388A、A95G、G1376T及G392T,其中5例为杂合子.(2)G6PD酶学检查5例表现为中间型,且临床黄疸症状较轻,治疗效果好.结论柳州地区籍女性新生儿黄疸儿的G6PD基因突变类型多见G1388A、A95G、G1376T突变,以杂合子改变占多数.     

慢性腹透病人sIL─2R和STNFR1增高的临床研究

测定了８０例慢性腹透患者（ＰＤ）及６２例血透患者（ＨＤ）的ｓＩＬ－２Ｒ、ＳＴＮＦＲ１，结果表明：①ＰＤ者淋巴细胞活化较ＨＤ者稳定；②透析患者ｓＩＬ－２Ｒ增高不能单用清除减少来解释，可能还存在免疫调节；③高龄者免疫功能（ｓＩＬ－２Ｒ）降低与ＡＬＢ降低有关。认为ｓＩＬ－２Ｒ、ＳＴＮＦＲ１增高可降低宿主炎症反应，可能与长期透析患者极易感染有关     

Smoking,genes encoding dopamine pathway and risk for Parkinson's disease

Smoking has been reported to be inversely associated with Parkinson's disease (PD) in many studies, but a recent study in China found that smoking increased the risk of PD. Variants in genes associated with dopamine metabolism found to increase the risk for PD have also been associated with smoking behavior. To investigate the association between smoking and PD in a Chinese population and determine whether the genetic variants of genes involved in dopamine metabolism influence the relationship between smoking and risk for PD. Chinese PD patients were recruited from Xuanwu Hospital. Controls were sampled from community. Detailed information on life-long smoking behavior was collected by face-to-face interview. Genotypes were determined for SLC6A3 VNTR, COMT Val108/158Met and MAO-B intron13 A/G polymorphisms by PCR-RFLP, DHPLC and sequencing. Chi-square and logistic regression model were used in the analysis. 176 PD cases and 354 controls were enrolled in this study. 23.9% cases are smokers, compared to 48.0% in controls. Ever smoking is inversely associated with PD (odds ratio = 0.14, 95% CI 0.08–0.26, adjusted for age and gender). None of the above-mentioned genetic polymorphisms was associated with PD risk or smoking. When each variant was included in the logistic regression model, the inverse association between smoking and PD remained the same, and the interactions between smoking and variants were not significant in the model. Our data support a reduction of PD risk associated with smoking in a Chinese population. These variants of genes associated with DA uptake and metabolism do not affect the inverse association between smoking and PD.     

Misexpression screen delineates novel genes controlling Drosophila lifespan

In an initial preliminary screen we identified factors associated with controlling Drosophila aging by examining longevity in adults where EP elements induced over-expression or antisense-RNA at genes adjacent to each insertion. Here, we study 45 EP lines that initially showed at least 10% longer mean lifespan than controls. These 45 lines and a daughterless (da)-Gal4 stock were isogenized into a CS10 wild-type background. Sixteen EP lines corresponding to 15 genes significantly extended lifespan when their target genes were driven by da-Gal4. In each case, the target genes were seen to be over-expressed. Independently derived UAS-gene transgenic stocks were available or made for two candidates: ImpL2 which is ecdysone-inducible gene L2, and CG33138, 1,4-alpha-glucan branching enzyme. With both, adult lifespan was increased upon over-expression via the GeneSwitch inducible Gal4 driver system. Several genes in this set of 15 correspond to previously discovered longevity assurance systems such as insulin/IGF-1 signaling, gene silencing, and autophagy; others suggest new potential mechanisms for the control of aging including mRNA synthesis and maturation, intracellular vesicle trafficking, and neuroendocrine regulation.     

PD-L2 expression extends beyond dendritic cells/macrophages to B1 cells enriched for V(H)11/V(H)12 and phosphatidylcholine binding

B1 B cells are the major source of natural antibody that is essential for innate immunity. The B1 repertoire is skewed toward production of phosphatidylcholine (PtC)-binding V(H)11 and V(H)12 immunoglobulin that plays a key role in immune defense against bacterial infection. Programmed death-ligand 2 (PD-L2) is a ligand for the immunosuppressive receptor programmed death-1 (PD-1). It has been reported that expression of PD-L2 is restricted to dendritic cells and macrophages in mice. Here we show that 50-70% of resting peritoneal B1 cells express PD-L2, which is not present or inducible on conventional B2 B cells or PD-L2(-) B1 cells. Although PD-L2(+) and PD-L2(-) B1 cells are similar in proliferative responses and spontaneous immunoglobulin secretion, PD-L2(+) B1 cells are highly enriched for expression of V(H)11 and V(H)12 genes and encompass the bulk of PtC-binding B1 cells. These findings extend the range of known PD-L2 expression to B cells and show that B1 cells identified by this marker express a specific repertoire associated with anti-bacterial immunity.