Identification of the novel allele HLA-DRB1*1137 which probably originated from DRB1*11011: implications for mismatch with its ancestor allele at bone marrow transplantation

The identification of the new allele HLA-DRB1*1137, which was found in a Caucasian individual, is described. In the sequence analysis the new allele differs from DRB1*11011 by position 227 (T>A) which is located in exon 2. At the protein level, the new allele has one amino acid difference compared to DRB1*1101 (Phe47Tyr). Residue 47 is likely to contribute to the peptide binding site of HLA-DR11 and thus to be important for peptide binding. However, as phenylalanine and tyrosine have very similar physical and chemical features allogenicity in case of mismatch at bone marrow transplantation may be weak.     

Impaired postural compensation for respiration in people with recurrent low back pain

This study evaluated the degree to which the disturbance to posture from respiration is compensated for in healthy normals and whether this is different in people with recurrent low back pain (LBP), and to compare the changes when respiratory demand is increased. Angular displacement of the lumbar spine and hips, and motion of the centre of pressure (COP), were recorded with high resolution and respiratory phase was recorded from ribcage motion. With subjects standing in a relaxed posture, recordings were made during quiet breathing, while breathing with increased dead-space to induce hypercapnoea, and while subjects voluntarily increased their respiration to match ribcage expansion that was induced in the hypercapnoea condition. The relationship between respiration and the movement parameters was measured from the coherence between breathing and COP and angular motion at the frequency of respiration, and from averages triggered from the respiratory data. Small angular changes in the lumbopelvic and hip angles were evident at the frequency of respiration in both groups. However, in quiet standing, the LBP subjects had a greater displacement of their COP that was associated with respiration than the control subjects. The LBP group had a trend for less hip motion. There were no changes in the movement parameters when respiratory demand increased involuntarily via hypercapnoea, but when respiration increased voluntarily, the amplitude of motion and the displacement of the COP increased in both groups. The present data suggest that the postural compensation to respiration counteracts at least part of the disturbance to posture caused by respiration and that this compensation may be less effective in people with LBP.     

Presymptomatic diagnosis of SMA III by genotype analysis

Linkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I-III SMA to region 5q12-q13.3. We have performed a segregation study of SMA in Italian families using molecular probes and highly informative PCR-based polymorphic markers. In one family, a 7-year-old boy affected with type III SMA and an 8-year-old apparently healthy brother had identical haplotypes. These findings prompted us to reexamine the apparently unaffected child. His neurological exam was normal. However, the electromyography (EMG) showed a pattern consistent with chronic SMA. To our knowledge this is the first example of presymptomatic diagnosis of SMA based on genotype analysis. © 1993 Wiley-Liss, Inc.     

Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data"

The analysis by Sherman et al. (1986), its basis and results have been examined. The analysis relies on general methods, which may give acceptable results under the special conditions considered by the authors, but will usually produce more or less misleading results. The program POINTER (Lalouel & Morton 1981) is shown to be based partly on a chain of irrelevant arguments for the actual context. The so-called "conventional ascertainment rules" (Morton et al. 1983) are shown to produce misleading results in cases where their assumptions are not satisfied. The mean risk for unbalanced offspring is underestimated because of an erroneous ascertainment correction. The segregation frequencies are found to be different in three national samples, contrary to the claim by Sherman et al. Only a small proportion of all information available in the data has been utilized. Alternative and more appropriate models, hypotheses and procedures have been suggested. The frequent use of packages with computer programmes of standard statistical procedures in nonstandard situations with data from collaborative studies in human cytogenetics is discussed.     

健康婴幼儿早期教育的效果及影响因素

目的:探讨健康足月婴幼儿早期教育(简称早教)的效果及其影响因素,为开展健康足月婴幼儿早教工作提供理论和实践依据.方法:以自愿来早教中心进行早教的健康足月婴幼儿52名为实验组.另选择与其基本条件相同的婴幼儿52名为对照组.实验组除进行早教的各项培训工作外,还于培训前和培训3、6、9个月后各测评发育商(DQ)1次,以评定早教的效果.对照组无早教,于入组时和9个月后各测评DQ 1次.结果:①实验组经培训9个月后,其DQ平均值提高21.9±13.6分,高于对照组观察9个月后DQ平均值提高分3.0±3.0,差异有统计学意义(t=9.757,P＜0.001).②实验组培训前DQ值有23例低于中等水平;培训后有27例高于中等水平,其中8例DQ≥130.③多元逐步回归分析结果表明,影响DQ增加的主要因素是完成家庭训练作业的程度(R2=0.57),其次是到早教中心训练的次数(R2=0.019),再次是性别(R2=0.016).结论:早教对健康足月婴幼儿的大脑发育、智能发展、运动发育具有显著效果,是提高婴幼儿DQ的有效措施.     

Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity

Gastrointestinal stromal tumours (GISTs) are currently defined as mesenchymal tumours of the gastrointestinal tract that express KIT receptor tyrosine kinase. However, a small subgroup of tumours that fulfil the clinical and morphological criteria for GISTs lack KIT expression. So far, the biological features of these tumours have rarely been addressed. The present study describes seven gastrointestinal stromal neoplasms that presented clinicopathological features typical of GISTs but showed absence of CD117 expression as detected by immunohistochemistry. The tumours originated from the stomach (n = 5), duodenum (n = 1), and colon (n = 1), showing histologically either predominantly epithelioid (n = 3), mixed spindled and epithelioid (n = 2), or anaplastic/spindle cell (n = 2) type features. CD34 and alpha-smooth muscle actin (alpha-SMA) positivity was present in four and three tumours, respectively. Chromosomal analysis was performed in two cases, both showing losses of chromosomes 14, 22, and 1p, which is the characteristic feature of GISTs. Dual-colour interphase fluorescence in situ hybridization (FISH) analysis, utilizing chromosome 1p-, 14-, and 22-specific probes, revealed a similar cytogenetic profile in the remaining five tumour specimens. Mutational analysis of exons 9, 11, 13, and 17 of KIT, and exons 12 and 18 of PDGFRA was performed in all cases by denaturing high-pressure liquid chromatography (DHPLC) pre-screening, followed by direct sequencing. None of the tumours showed KIT mutant isoforms. Three tumours harboured PDGFRA exon 18 activating mutations; two were Asp --> Val(842) missense substitutions and one was a DIM842-844 amino acid deletion. KIT and PKC theta (protein activated in interstitial cells of Cajal and GISTs) expression was determined by western immunoblotting of the total cell lysates from three tumour biopsies. None of these three tumours expressed KIT, while all specimens showed expression of PKC theta protein. These findings indicate that there is a subgroup of KIT-negative GISTs that exhibit the same morphological, cytogenetic, and molecular features as KIT-positive tumours. While intragenic PDGFRA activating mutations are present in some of these tumours, the oncogenic events underlying the pathogenesis of the others remain unknown.     

大学生特殊完美主义量表的编制

目的:编制大学生特殊完美主义量表。方法:用探索性因素分析发展量表的初步理论结构,再用验证性因素分析证明理论结构的合理性和正确性,以此为基础编制了大学生特殊完美主义量表,并对正式问卷测量结果进行探索性因素分析和验证性因素分析。结果:探索性因素分析确定量表含5个因素,解释了总变异的57.54%;#系数、分半信度、重测信度分别为0.648～0.781,0.664～0.790,0.720～0.779;验证性因素分析显示拟合指数χ2/df,GFI,AGFI,NFI,NNFI,RMSEA,CFI,IFI分别为2.32,0.91,0.88,0.84,0.88,0.06,0.90,0.90。结论:该量表的信效度都达到了测量学的要求。     

内骨架一体化小腿假肢的生物力学研究

一体化假肢是以聚合物为材料从接受腔到假腿一体成型的新型下肢假肢，它比传统型假肢更经济、美观、轻便，具有较大的应用前景。目前的相关研究主要集中在设计与制作及少量的临床研究方面。由于一体化假肢与传统型假肢在结构上的差异，有必要对其进行应力分析。本研究的目的是开展内骨架一体化假肢的生物力学研究，本研究基于内骨架一体化小腿假肢的真实几何构型，建立三维有限元模型，计算该模型在模拟Heel OH步态时相的载荷作用下的应力分布；在保持该模型的几何形状不变的情况下，建立了三个不同壁面厚度的一体化小腿假肢的有限元模型，分析壁面厚度对一体化小腿假肢应力分布的影响；通过分别赋予模型四种不同高分子聚合物的材料力学特性值，分析不同材料的一体化假肢的应力分布特点；分别对模型施加与正常步态的五个典型时相对应的载荷，分析一体化小腿假肢在各步态时相的应力分布特点。本研究结果对一体化假肢设计有指导价值。