Frontotemporal dementia and parkinsonism linked to chromosome 17 with the N279K tau mutation

We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) harboring the N279K mutation in the MAPT gene from the family known as pallido‐ponto‐nigral degeneration (PPND). This 49‐year‐old man was followed for 17 years. He presented at age 41 years with left leg stiffness and en‐bloc turning. During the course of his illness he developed a constellation of symptoms including parkinsonism, pyramidal signs, vertical gaze palsy, dysphagia, dystonia, personality and cognitive dysfunction, weight loss and mutism. Gross neuropathological examination showed mild atrophy of the cerebral cortex, hippocampal formation, amygdala, thalamus, subthalamic nucleus and depigmentation of the substantia nigra. Microscopy revealed neuronal loss and gliosis in the same regions. Tau immunohistochemistry showed pretangles, numerous threads, grain‐like structures and oligodendroglial tau‐positive inclusions (“coiled bodies”). In the spinal cord the tau pathology was more abundant in gray than white matter. Pretangles and threads were present in the anterior and, to a lesser extent, in the posterior horns. FTDP‐17 should be suspected in patients with a history of familial parkinsonism combined with behavioral and cognitive changes, onset before age 65 years and an aggressive clinical course.     

新时期我国人学研究综述

改革开放以来 ,我国的人学研究有两条发展道路 :一是执政党的指导思想中以人为本、促进人的全面发展的观念日益清晰。二是学界围绕人道主义与异化问题、人的本质与人的价值问题、人的现代化、人的主体性等问题把对人学问题的研究逐步推向深入 ,二者相互促进 ,使人学作为一门独立的学科展现出广阔的发展前景。进入新的世纪 ,我国人学研究的重点转向人的全面发展 ,学术界就人的全面发展的丰富内涵以及在社会主义初级阶段如何从发展先进生产力、进行制度创新、加强先进文化建设、扩大交往等方面促进人的全面发展进行了全方位的深入的探讨。同时 ,学术界提出要高度关注“马克思的问题域” ,处理好发展社会主义市场经济与促进人的全面发展的关系。另外 ,学术界还从人与环境、人的实践的自发性与自觉性的关系等方面尝试总结关于人的发展的规律 ,这从一个更高的层面推进了我国的人学的研究     

Simple Partial Status Epilepticus Localized by Single-Photon Emission Computed Tomography Subtraction in Chronic Cerebral Paragonimiasis

A patient with chronic cerebral paragonimiasis began to have new motor seizures of the right face manifested by clonic contractions that occurred several hundred times a day, consistent with simple partial status epilepticus. Ictal electroencephalogram discharges started from the left frontal region and then spread to the left hemisphere with left frontal maximum. But clinical seizures were limited to the right face. The frequent partial seizures were controlled by the intravenous infusion of phenytoin. Brain magnetic resonance imaging showed multiple conglomerated round nodules with encephalomalacia in the left temporal and occipital lobes. Applying the technique of ictal-interictal single-photo emission computed tomography subtraction, the authors were able to localize the focal ictal-hyperperfusion on left precentral cortex adjacent to the lesions that correspond to the anatomical distribution of left face motor area.     

Identifying incident cases of parkinsonism among veterans using a tertiary medical center.

To better understand the impact of incident Parkinson's disease (PD) on the Veteran's Health Administration (VHA) and to develop methods applicable to future epidemiological research, we performed a medical record review study at a tertiary referral VHA medical center. Searching the local data base, we identified 782 veterans with diagnostic codes for PD or secondary parkinsonism (SP) between 1998 and 2000. Based on structured medical record review, a movement disorders specialist confirmed diagnoses for incident parkinsonism cases. Among the 782, 191 incident parkinsonism cases were identified (100 PD, 75 SP, and 16 Parkinson's Plus). Incident PD cases were older at diagnosis (74.5 vs. 70.4 yr; P < 0.05) and more likely to be white (81% vs. 62; P < 0.07) than incident SP cases. Diagnostic codes were insufficient to distinguish between incident PD and SP (positive predictive value, 57% and 39%, respectively), and VHA sources failed to identify 21% of confirmed deaths among the incident PD cohort by November 2004. Although the large number of incident cases identified suggests PD is an important cause of disability among elderly VHA users, observed limitations of VHA sources for identifying incident PD cases and determining their vital status should be considered when designing future studies.     

高产、大分子透明质酸突变菌株NUF-036的选育

对兽疫链球菌NUF-035进行紫外诱变,得到突变菌株NUF-036,使透明质酸的产量从1.8 g/L提高到3.0 g/L,相对分子质量从2.1×10~6提高到3.2×10~6,突变株经多次传代,透明质酸产量及相对分子质量保持稳定.     

蚌埠市某高中学生亚健康状况及其影响因素分析

目的了解蚌埠市高中学生的亚健康状况,探讨其影响因素,为开展相关健康教育工作提供参考依据。方法整群选取蚌埠市某高中在校学生1409名,采用自编问卷进行调查,所得数据采用SPSS10.0进行统计分析。结果亚健康状况检出率为58.34%,不同性别学生亚健康状况检出率差异无统计学意义,不同年级学生亚健康状况检出率差异有统计学意义（P〈0.01）。亚健康的主要危险因素为经常熬夜、正在减肥、缺乏体育锻炼、学习压力大、学习成绩不理想、睡眠不足等12项。结论蚌埠市高中学生亚健康问题较为突出。应积极采取有效措施,提高学生的健康水平。     

基因定量检测方法研究进展

基因定量检测已经成为研究基因组变异以及由于基因重组所引起的相关疾病的重要手段。大片段的基因组的重复和缺失可以引起致病突变。使用PCR和测序等定性检测方法很难探测到杂合状态的缺失和重复,因此探寻高效、可靠、灵敏的基因定量检测方法是当务之急。在过去的几年中已经相继出现了一些自动高效的技术方法。现在可用的基因定量方法大致可以分成3类:DNA印迹技术,细胞遗传学方法和以PCR扩增为基础的定量。本文对基因定量的最新进展作一综述,探讨其优缺点以期对定量研究方法的选择有所帮助。     

Income-related health inequality in Belgium: a longitudinal perspective

This paper provides new evidence on the degree of income-related inequality in self-assessed health in Belgium. First of all, we combine the time dimension, which has been shown to be very important in the analysis of inequality, and the use of the recently developed interval regression approach to transform a categorical health variable in a continuous one. Second, we measure how the long-run inequality differs from the short-run inequality. Finally, we decompose this health-related income mobility index as well as the long-run concentration index (CI) itself into its contributors. Using data from the panel survey of Belgian households (1994–2002), we find that health is pro-rich distributed and that its inequality is underestimated by 9.45% when neglecting the dynamics of individuals over time. Income, education, job status and age are the most important contributors in the CI and the difference between the short-run and long-run inequality.      

东方人苯丙酮尿症的分子遗传学—苯丙氨酸羟化酶基因中一终止突变与单体型4的连锁不平衡性

应用聚合酶链反应(PCR)方法扩增苯丙氨酸羟化酶(PAH)基因的每个外显子及其侧翼的内含子,并克隆到M 13载体中进行序列分析。发现中国人苯丙酮尿症(Phenylketonuria,PKU)患者的PAH基因外显子3中有1个Arg~(111)→Ter~(111)的点突变,此突变与东方人最常见的突变单体型4呈连锁不平衡。此突变占中国人PAH等位基因的10％左右,但不存在于高加索人群中,表明在种族分化过程中PAH基因位点发生了互不相关的突变事件。