Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature

Clinical assessments made with measuring devices are generally considered “objective” and “accurate” and are, therefore, more discriminating than subjective assessments. We show that the choice of measuring devices or non-standardized landmarks to be used with the measuring devices affect the “accuracy” of the “objective” findings. © 1994 Wiley-Liss, Inc.     

腰椎间盘疝的平片和CT影像分析（附72例手术对照）

作者报道了７２例腰椎间盘疝的平片和ＣＴ表现，并与手术结果作了对照分析，术前诊断符合率分别为ＣＴ９２．７％、平片３７．８％。并对本病平片和ＣＴ检查价值等问题进行讨论，指出平片征象以椎间隙狭窄伴前窄后宽和椎体后角骨质增生等表现意义较大，ＣＴ检查是本病定位定性诊断较可靠的检查方法，能够直观地揭示椎间盘、侧隐窝、关节突和椎管内外结构的变化，具有普通ｘ线诊断无可比拟的价值。     

注液摇篮体位CT对胃癌手术评估价值研究

目的：探讨以水作对比剂的摇篮变换体位CT检查对胃癌手术评估价值。方法：128例胃癌病人口服温开水，低张法使胃囊充盈应用摇篮技术行CT检查，进行术前CT分期并与手术病理结果对照。结果：128例胃癌中108例术前CT分期与术后临床病理分期相吻合，准确率84.4%。11例（8.6%)CT分期低于临床分期，而9例（7.0%)CT高估。CT分期对胃癌手术切除评估准确率93.8%(120/128)。＜1.0cm和≥1.0cm肿大淋巴结的检出率分别为23.1%和76.9%。根治术后送检的197个淋巴结中，CT发现167个淋巴结，敏感性为84.8%(167/197)；在112个阳性淋巴结中，有98个CT提示转移，特异性为87.5%(98/112)。结论：以水作对比剂摇篮CT扫描明显提高了胃癌术前分期准确率和手术切除评估符合率，尤其对显示肿块与周围组织器官结构的关系及肿大淋巴结摇篮体位扫描更具有明显的优越性。     

腰椎椎间盘突出症X线诊断的价值

目的　评估腰椎间盘突出症X线诊断价值。方法　对 6 0例腰椎间盘突出摄取腰椎正侧位片并进行X线分析。结果　腰椎间盘突出症X线征象 :(1)生理曲度改变和椎间隙狭窄。 (2 )椎体唇样骨质增生。 (3)游离骨块。结论　X线平片对腰椎间盘突出症的诊断仍具有重大价值。     

Use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait

Owing to the presence of outliers, an estimated 3.5% in the ridge breadth data and 1.7% in the height data, the effect of fragile X on height and ridge breadth was examined using robust statistical techniques for data collected from 54 families afflicted with this disorder. It is shown that fragile X affects ridge breadth and height in a different manner. Fragile X women had a greater mean ridge breadth than normal women, whereas there was a similar trend, but no significant difference, between normal and fragile X men. Fragile X men were shorter than normal men, but no significant difference between the mean height of normal and fragile X women was observed. However, fragile X girls were shown to grow more quickly and to stop growing earlier than normal girls. An examination of the covariance between relatives classified according to fragile X status showed that for both traits the effect of fragile X was to reduce the covariance between parents and offspring, which produced the effect of departure from an additive polygenic model of inheritance. ©1995 Wiley-Liss, Inc.     

动态增强CT检查对肾上腺腺瘤与非腺瘤的鉴别诊断价值

目的探讨动态增强CT检查技术对肾上腺腺瘤与非腺瘤的鉴别诊断价值并优选出有意义的参数，以进一步明确两者的鉴别诊断标准。资料与方法对44例共49个肾上腺肿瘤先平扫再行动态增强CT检查，观察以肿瘤的CT绝对值、绝对开始廓清率及相对开始廓清率作为标准鉴别肾上腺腺瘤与非腺瘤的诊断价值。结果延时3min，以36％的绝对开始廓清率或35％的相对开始廓清率分别与CT绝对值58HU相结合作为标准，对腺瘤有较高的诊断价值，对于腺瘤中的乏脂质性腺瘤与非腺瘤的鉴别诊断也具有同样的价值。结论以肿瘤的廓清率与延时增强后的CT绝对值作为联合标准，能明显提高腺瘤的诊断价值。     

Abnormal cerebral asymmetry and schizophrenia in a subject with Klinefelter's syndrome (XXY).

BACKGROUND: A high incidence of schizophrenia has been reported in individuals with sex chromosome aneuploides (SCAs), and extra-X aneuploidy appears to adversely affect neurodevelopment. We previously examined neurodevelopment in SCA subjects with structural magnetic resonance imaging (MRI) of the brain. We present an XXY subject who subsequently developed schizophrenia. Further examination of the MRI data was undertaken. METHODS: Graphs of MRI-determined regional brain to whole brain volume proportions and cerebral asymmetry indexes were generated for Klinefelter (n = 10) and male control subjects (n = 25) to allow inter-individual comparisons. RESULTS: The index case had reversed prefrontal and temporal lobe asymmetries, and these findings were more marked than in any other subject. CONCLUSIONS: It has been suggested that a genetic locus for schizophrenia may be found on the X chromosome and that the gene(s) concerned are implicated in the development of normal cerebral asymmetries. This case supports these arguments.     

应用FISH技术对肝癌细胞系HCC-9903X染色体变异的研究

目的：研究人肝细胞肝癌细胞系HCC－9903X染色体畸变规律。方法：建立肝细胞肝癌细胞系HCC－9903，制备其染色体标本，用X染色体着丝粒特异DNA探针，对其X染色体进行荧光原位杂交（fluorescence in situ hybridization,FISH)，检测X染色体拷贝致畸变。结果：HCC－9903肝癌细胞系染色体变异发生率高，其中X染色体改变存在规律，拷贝数增多，以4拷贝为主，X染色体扩增率达99％，结论：X染色体拷贝数增多在肝癌细胞系中发生频率很高，证明在肝癌发病及发展过程中起到某种作用，其意义值得进一步探讨。     

颞骨CT影像检查技术

本文综述了颞骨的现代影像学检查技术，HRCT是颞骨首选的影像学检查方法，对于颞骨解剖及病变的显示有很大优势。螺旋CT有多种后处理技术可应用于颞骨检查：MPR能对颞骨进行多方位观察，CPR对面神经等结构全貌显示，SSD、CTVE能够立体全方位显示解剖及病变并可进行模拟手术，VR显示内耳膜迷路及神经。MRI能够在一定程度上区分病变的病理性质，水成像技术清晰显示膜迷路。     

CT诊断晚发性维生素K缺乏症并颅内出血的研究

目的：探讨晚发性维生素K缺乏症所致颅内出血的CT表现及临床研究，旨在提高对本病的早期诊断，早期治疗，降低死亡率和致残率。方法：对58例临床可疑晚发性维生素K缺乏症并颅内出血的患者行CT检查，对二者进行分析讨论。结果：硬膜下血肿36例，合并蛛网膜下腔出血17例，脑实质内出血8例，脑室内出血5例。脑实质内出血25例，合并蛛网膜下腔出血10例，硬膜下出血8例，脑室内出血5例，硬膜外血肿3例。蛛网膜下腔出血14例。脑室内出血9例。结论：头颅CT检查是诊断本病的首选方法，既可确定出血部位及程度，同时也是对临床疗效观察和预后判断的可靠依据。