Point mutation in the parkin gene on patients with Parkinson’s disease

Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese. WANG Tao, male, born in 1961, Associate Professor This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial No. WJ 01529).     

头孢呋辛酯制备工艺的改进

以头孢呋辛钠为原料，从制备（R，S）-乙酸1-溴乙酯开始。经酯化反应的溶剂沉淀过程无须分离直接制得高纯度非晶型的头孢呋辛酯。本制备方法简便，适于工为化生产。     

Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

A genome-wide screen was conducted using a large white sample to identify QTLs for FNCS geometry. We found significant linkage of FNCS parameters to 20q12 and Xq25, plus significant epistatic interactions and sex-specific QTLs influencing FNCS geometry variation. INTRODUCTION: Bone geometry, a highly heritable trait, is a critical component of bone strength that significantly determines osteoporotic fracture risk. Specifically, femoral neck cross-sectional (FNCS) geometry is significantly associated with hip fracture risk as well as genetic factors. However, genetic research in this respect is still in its infancy. MATERIALS AND METHODS: To identify the underlying genomic regions influencing FNCS variables, we performed a remarkably large-scale whole genome linkage scan involving 3998 individuals from 434 pedigrees for four FNCS geometry parameters, namely buckling ratio (BR), cross-sectional area (CSA), cortical thickness (CT), and section modulus (Z). The major statistical approach adopted is the variance component method implemented in SOLAR. RESULTS: Significant linkage evidence (threshold LOD = 3.72 after correction for tests of multiple phenotypes) was found in the regions of 20q12 and Xq25 for CT (LOD = 4.28 and 3.90, respectively). We also identified eight suggestive linkage signals (threshold LOD = 2.31 after correction for multiple tests) for the respective geometry traits. The above findings were supported by principal component linkage analysis. Of them, 20q12 was of particular interest because it was linked to multiple FNCS geometry traits and significantly interacted with five other genomic loci to influence CSA variation. The effects of 20q12 on FNCS geometry were present in both male and female subgroups. Subgroup analysis also revealed the presence of sex-specific quantitative trait loci (QTLs) for FNCS traits in the regions such as 2p14, 3q26, 7q21 and 15q21. CONCLUSIONS: Our findings laid a foundation for further replication and fine-mapping studies as well as for positional and functional candidate gene studies, aiming at eventually finding the causal genetic variants and hidden mechanisms concerning FNCS geometry variation and the associated hip fractures.     

Clinical report of cervical arthroplasty in management of spondylotic myelopathy in Chinese

Objectives  

To investigate clinical effects and manual operational point of Bryan cervical disc prosthesis in Chinese, to observe the stability and range of movement (ROM) post-operatively.     

Arterial effects of salt restriction in hypertensive patients. A 9-week, randomized, double-blind, crossover study.

OBJECTIVE: To investigate the hemodynamic effects of a moderately low-salt diet in a 9-week, randomized, double-blind, crossover study in 20 hypertensive, ambulatory patients. METHODS: All subjects followed a 9-week, low-salt diet. During this period, they received capsules containing either lactose or salt in 4-week treatment periods, separated by a 1-week washout period. Hemodynamic and biological parameters were evaluated on the day of randomization and at the end of weeks 4 and 9. We defined a low-sodium diet (LSD) as a salt-restriction period with lactose capsules, and a normal-sodium diet (NSD) as a salt-restriction period with capsular salt supplementation. RESULTS: Blood pressure was significantly lower during LSD compared with NSD. This fall in blood pressure was associated with a decrease in peripheral resistance in carotid and forearm circulation. Brachial artery diameter was larger during LSD whereas carotid artery diameter remained unchanged. The changes in brachial artery were: (1) not related to blood pressure changes; (2) positively related to age, and (3) negatively correlated with baseline intracellular sodium content. CONCLUSIONS: These results suggest that moderate low-salt restriction is capable of decreasing blood pressure and peripheral resistance in carotid and forearm circulation. The increase in brachial, but not carotid, artery diameter following salt restriction suggests a difference in salt dependence among different arteries.     

传染病研究40年（1955～1995年）

本文综述本校传染病学教研室１９５５～１９９５年间所取得的科研成果。内容包括１０余种传染病与寄生虫病的临床和基础研究，其中以华支睾吸虫病、恙虫病等有广东特色的传染病以及伤寒、痢疾、病毒性肝炎等影响人民健康最普遍的传染病为重点。反映了建国以来各个时期本教研室对防治这些传染病所作的贡献。所取得的成果，相当一部分通过多年来的验证，已获得广大传染病工作者所认同或列为常规，部分已获得部委级奖励。现在重温这些成果，可能起承前启后的意义。     

氨基酸、有机酸、碱基核苷类化合物的双向色谱多相同步分析

30余种氨基酸、40余种非挥发性有机酸和20余种碱基核苷类化合物在一块薄层板上完成多相同步色谱分析；用紫外灯-吖啶试剂-镉茚三酮试剂实行组合显色定位分析。改善了尿液中非挥发性有机酸的溶剂萃取法，尿中三类化合物提取物的同步多相色谱分离效果良好。     

柠檬月亮

明月的公司叫MOONRIVER，不知道的人总以为那些带着粗糙划痕的石壁圈住的是一个咖啡厅，其实不是。屋子里只有素色的窗帘和柔软的沙发，茶几上没有咖啡，但永远放着新鲜的柠檬水，明月接待客 从不做笔录，优质的采访机放在不被注意的地方，工作的时候，电源信号灯轻轻闪烁，明明灭灭。     

环氧合酶-2和血管内皮生长因子共表达与肝细胞癌血管形成的关系

目的　探讨环氧合酶 (COX) 2与肝细胞癌血管形成的关系。方法　利用免疫组织化学、Westernblot方法检测 48例肝癌组织中COX 2和血管内皮生长因子 (VEGF)蛋白及逆转录 聚合酶链反应法 (RT PCR)检测COX 2和VEGFmRNA的共表达 ,对共表达COX 2和VEGF蛋白和mRNA的肝癌组织进行微血管记数。结果　免疫组织化学检测中 ,48例肝癌组织 3 6例共表达COX 2和VEGF蛋白。类似结果见于蛋白电泳分析。RT PCR显示 ,48例肝癌组织 3 6例共表达COX 2mRNA和VEGFmRNA。两者之间的表达明显相关 (γ =0 .845 )。共表达COX 2和VEGF蛋白和mRNA的肝癌组织中 ,平均微血管数 (5 6.8± 17.5 )个 ,明显高于阴性表达组。结论　COX 2可能与肝细胞癌的血管形成有关 ,且其作用之一可能是通过上调VEGF通道来发挥的