Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia

A sample enriched for familial combined hyperlipidemia (FCHL) was examined for evidence of an association between genotype at an apolipoprotein B (apoB) elevating locus defined by complex segregation analysis and FCHL. Complex segregation analysis detected a locus with a large effect on plasma apoB levels and was used to compute the most probable genotype of family members. None of the 35 normolipidemic adults carried a copy of the allele associated with elevated apoB levels, yet 58% of the 109 adults with FCHL carried 1 (29%) or 2 (28%) copies. Two of 28 (7%) normal children had 1 copy of this allele and none had 2 copies, while 88 of 182 (48%) children with FCHL had 1 (26%) or 2 (22%) copies. Further, 4l of 48 (85%) individuals classified as having hyperapobetalipoproteinemia did not carry a copy of this “elevated apoB” allele. Therefore, the presence of the allele associated with elevation of apoB level is highly predictive of FCHL and this association cannot be explained solely by the presence of elevated apoB levels in FCHL, suggesting that the locus controlling apoB levels may play an etiologic role in FCHL. © 1993 Wiley-Liss, Inc.     

A study of the value of electrophoretic and other techniques for typing Acinetobacter calcoaceticus

Forty-four isolates of Acinetobacter calcoaceticus var anitratus collected during hospital outbreaks were studied using polyacrylamide gel electrophoresis (PAGE), plasmid analysis, antibiograms and biochemical tests to determine their degree of similarity. Reproducibility tests were also carried out on the PAGE and biochemical techniques to determine their validity when used to compare bacteria of the same type isolated intermittently. PAGE data was analysed densitometrically and isolates compared using a similarity matrix. All methods were able to subdivide the isolates, but results did not always correlate well between methods. Reproducibility data indicated that careful attention to technique is required when organisms are examined by PAGE sequentially. Results suggest that no single biotyping technique is likely to be adequate and that electrophoretic, biochemical and antibiogram data may complement one another and other epidemiological data in the typing of these organisms.     

Heart rate analysis in 24 patients treated with 150 mg amitriptyline per day

Twenty-four patients treated with 150 mg amitriptyline per day for an episode of major depression underwent a standardized heart rate analysis (HRA) before therapy and after 14 days. The battery of cardiovascular reflex tests included the determination of the coefficient of variation (CV) while resting and during deep respiration, a spectral analysis of heart rate, the heart rate response to standing, and the Valsalva manoeuvre. The results of the initial HRA did not differ from a group of 24 normal control subjects matched for age and sex. On day 14 of treatment the patients showed significantly reduced values of heart rate variability in all tests (P<0.0001), probably due to the anticholinergic side effects of amitriptyline. Heart rate increased form 78.1 to 93.6 bpm on average (P<0.0001). Abnormal CV at rest was registered in 96% of the patients; during deep respiration 29% showed abnormal CV results. An abnormal spectral analysis was found in 100% of the cases (low frequency peak: 42%, mid-frequency peak: 100%, high frequency peak: 79%). The heart rate response to standing was abnormal in 75% and the Valsalva test in 33% of the cases. Eighty-eight percent of the patients fulfilled the criteria of a cardiovascular autonomic neuropathy under the conditions of amitriptyline therapy. As yet, the consequences of these changes for the patients have not been sufficiently elucidated.     

埃塞俄比亚德布拉巴汗地区盲目分析

埃塞俄比亚德布拉巴汗市医院眼科门诊病人１４３６人中查出盲目患者１６８人，占门诊病人的１１．７％。其中双眼盲６７人，占门诊病人的４．６７％，占盲人的３９．８８％；单眼盲１０１人，占门诊病人的７．０３％，占盲人的６０．１２％。通过分析，初步找出了在埃塞的三大致盲病因，即白内障、青光眼和眼外伤。其中白内障具有重要的开盲意义。     

正常闪光视网膜电图的频域分析

应用快速傅里叶转换技术对正常视网膜电图进行频域分析，发现其ａ、ｂ波的优势频及能量集中在５－７５Ｈｚ；与ＯＰＳ波的分离点为７７ＨＺ，从而提出单纯记录ａ、ｂ波及ＯＰＳ波各自的较理想的通频带。     

Decision making in diagnostic radiology

Radiology can be more interesting if the principles of decision making are understood and used to the advantage of the radiologist, referring clinician and patient. This article seeks to revise the principles that radiologists use intuitively. Particular emphasis is placed on the importance of the pre-test probability, as it can be shown to: (i) vary with the referral pool of patients; (ii) be a major determinant of the amount of additional information gained from the test; (iii) alter the sensitivity and specificity of the test; and (iv) determine largely the significance of a positive or negative test result. An investigation helps a clinician by providing information that will move the probability of disease above an action threshold or below its exclusion threshold. If this does not occur as a result of one study, another is selected. This article also describes the factors involved in such a decision tree analysis, as well as discussing the reasons for both selecting a particular examination and deciding when a test should not be performed.     

Path analysis and sib-pair linkage

When the distance between linked loci is expressed in terms of the correlation between the identity-by-descent (idb) values of the loci, then a path model may be used to order loci with data on sib-pairs and their parents. The relationship between the recombination fraction and the correlation coefficient is developed and a method for fitting a covariance matrix predicted by a specific ordering of loci to an observed covariance matrix is proposed. © 1993 Wiley-Liss. Inc.     

Perimetric variability: Importance of criterion level

Perimetry suffers from considerable variability of results. A new technique for estimating individual criterion levels in normal subjects exposes the important role of psychological variables. The analysis depends on features peculiar to acuity perimetry. It can be accommodated in the regular examination. The results can be used to compensate for practice effects in serial examinations and to tighten the range of normal limits. The reduction in variation between normal subjects amounted to 57 per cent.     

测定血清及尿β2微球蛋白评估健康老年人肾功能的价值

测定72例健康老年人（60-84岁）和65例健康青中年人（20-50岁）血清和尿β2微球蛋白（β2m)，发现前血清β2m浓度比后明显增高（p<0.001)；老年组≥70岁尿液β2m浓度也明显增高（p<0.05)。结果表明肾小球滤过率下降随年龄增长而降低，以后再出现肾小管功能减退。本试验较血清尿素氮、肌酐和内生肌酐清除率测定更为敏感。