中医情志的发生机制刍议

在情志学说和脑主神明理论指导下对情志产生的生理机制作新的诠释。认为脑神的气化出入及整合作用是情志发生的生理基础 ;五脏所化的气血精津为情志发生的物质基础     

医学影像存储的色彩模式和文件格式的比较

本文介绍了不同的影像色彩模式和影像文件常见存储格式的特点及其在应用上的优缺点，分析了影像色彩模式、文件存储的格式与影像质量、用途的关系。     

一个进行性肌营养不良症家系的研究

目的寻找由DNA损伤(如突变)引起的人类表型缺陷,为人类遗传资源的收集与保藏以及人类基因结构与功能的研究打下基础。方法通过实地调查得到表型缺陷家系,然后进行系谱分析。结果得到一进行性肌营养不良家系,4代41位成员中有12例患者。结论进行性肌营养不良是由DNA损伤引起的人类表型缺陷;该病症符合常染色体显性遗传;该病的发生具有一定的外显率和表现度。     

Observations on two members of the Swedish family with congenital dyserythropoietic anaemia,type III

Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi- and multinucleate erythroblasts contained one or more nuclei which were unlabelled with ³H-thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N-glycosylation of some red cell membrane constituents.     

分娩方式对新生儿补体系统,体液免疫水平的影响

为研究分娩方式是否影响新生儿免疫状态，检测和比较了６８例妊娠足月阴道产和６４例妊娠足月部宫产分娩的新生儿脐血Ｃ３、Ｃ４及ＩｇＧ、ＩｇＡ、ＩｇＭ的含量，其结果：ＩｇＧ的的含量阴产组明显高于剖宫产组，且男婴阴道产组ＩｇＧ的信明显高于剖宫产。说明剖宫产可参降低新生儿免疫应签及抗感染能力。     

Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease

The identification of disease genes using family‐based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late‐onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (±12.53, 45–76). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome‐wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as “unknown.” Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3–q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society     

Spondylometaphyseal dysplasia: further heterogeneity

The spondylometaphyseal dysplasias are a very heterogeneous group of disorders. Only one has been clearly defined, namely, the spondylometaphyseal dysplasia — Kozlowski type, known also as the common type. This disorder is inherited as an autosomal dominant trait. In this report we describe an Arabic-Moslem kindred with spondylometaphyseal dysplasia, not of the common type, with an autosomal dominant mode of inheritance, indicating further heterogeneity.     

视觉诱发电位与优势眼

目的:研究正常儿童优势眼视觉诱发电位特征。方法:对47名正常儿童进行全视野刺激多导视觉诱发电位研究。结果:优势眼视觉诱发电位以0_z电极为代表,P_(100)潜伏期较非优势眼缩短(P<0.01),而N_(75)—P_(100)峰峰值较非优势眼增大(P<0.05)。结论:中枢神经系统存在偏利现象,这种偏利现象可能与控制视神经髓鞘优先形成的某种遗传机制有关,或是中枢神经系统突触的局部构造、突触效能的差异。