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).     

幼儿园824名3－6岁幼儿肝功能、乙肝表面抗原检测结果分析

为了解幼儿的肝功能和ＨＢｓＡｇ携带情况，我们于１９９１年肝炎发病高峰季节对我县四所幼儿园共８２４名幼儿进行了ＡＬＴ、ＴＴＴ、ＺｎＴＴ、ＨＢｓＡｇ检测。结果ＡＬＴ、ＴＴＴ均升高１例，有体征；ＡＬＴ单项升高６例，无症状；ＨＢｓＡｇ阳性５８例，其中９例ＡＬＴ升高，４例ＴＴＴ升高。幼儿园是幼儿集中的地方、同吃、同住、接触密切，对ＨＢｓＡｇ阴性者接种乙肝疫苗，对ＡＬＴ升高者不能忽视以免发生肝炎流行。     

Effect of artifacts due to flowing blood on the reproducibility of phase-contrast measurements of myocardial motion

The reproducibility of myocardial motion trajectories calculated from cine phase-contrast (PC) velocity data is reduced by artifacts due to the inconsistent motion of intracardiac blood. Spatial presaturation reduces these artifacts but requires a longer sequence TR, with a potentially negative effect on trajectory accuracy and reproducibility. We investigated the effect of spatial presaturation on trajectory reproducibility. A midventricular transaxial slice was imaged in five normal volunteers. The same slice was imaged three times each with sequences using spatial presaturation or not. Because the most serious artifacts originate in the heart chambers and propagate in the phase-encoded direction, myocardial regions that were in line with the heart chambers (in the phase-encode direction) had the highest artifact level in the scans without spatial presaturation. The reproducibility of trajectories for regions placed in these areas (the anterior wall, septum and posterior wall in the transaxial scans with phase encoding in the anterior-posterior direction) improved by a factor of two when presaturation was used (P < .001). In areas that were not in line with the heart chambers (eg, the anterior aspect of the lateral wall in the transaxial scans), the effect of presaturation was not significant. These results correlate well with the measured reduction in artifact level. The reproducibility of myocardial motion trajectories over large areas of the heart is improved to approximately 1 mm when presaturation is used. Therefore, use of presaturation is recommended for myocardial motion studies using cine PC velocity data.     

血康口服液与他莫昔芬联合治疗免疫性血小板减少性紫癜疗效观察

联合应用血康口服液和他莫昔芬治疗成人免疫性血小板减少性紫癜(ITP)20例。疗程超过2月。15例患者的血小板(BPC)计数明显上升,有效率为75％(15/20),对于激素治疗无效者,仍有良效。对月经过多者和不适合应用激素者尤为适应。两药合用无明显副作用。治疗起效时间较快,平均13天。疗效持续时间较长,长者已达一年以上。     

Infection control and anesthesia: Lessons learned from the Toronto SARS outbreak

PURPOSE: To describe the outbreak of severe acute respiratory syndrome (SARS) in Toronto, its impact on anesthesia practice and the infection control guidelines adopted to manage patients in the operating room (OR) and to provide emergency intubation outside the OR. Clinical features: The SARS outbreak in Toronto was the result of a single index patient. The causative virus, SARS-CoV, is moderately contagious, and is spread by droplets and contact. The virus gains access to host through the mucosa of the respiratory tract and the eyes. It can affect both healthy and compromised patients. The use of several precautionary measures such as goggles, gloves, gowns and facemasks and the application of various infection control strategies designed to minimize the spread of the virus are discussed. CONCLUSION: In containing the spread of SARS, vigilance and strict infection control are important. This results in the rediscovery of standards of infection control measures in daily anesthesia practice.     

医学美学与美容医学的整体学科研究

回顾医学美学与美容医学形成独立的学科系统的十多年来的发展历程，认为这个新兴学科在“整体学科”方面还存在一些学术问题有待人们进一步探讨。并认为，所谓“整体学科研究”是遵循该学科发展的内在规律所进行的各项研究的总和，是该学科发展的灵魂。学者们的任务在于：通过“整体学科研究”寻求其学科内在规律，经一代代同道有志者坚持不懈的努力，达到学科完善的目的。     

神效止痛膏的镇痛作用

用二甲苯所致的急性炎症模型观察了神效止痛膏的抗急性炎症作用．用扭体法、热板法观察了神效止痛膏对小鼠的镇痛作用．结果表明，神效止痛膏有很好的镇痛作用．     

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.