独立分量分析在乳腺钼靶X片感兴趣区域提取中的应用

为乳腺癌早期诊断和乳腺X线影像微钙化点计算机辅助检测的前期预处理,本研究提出基于独立分量分析（ICA）的自动提取新算法并且将其应用于乳腺图像感兴趣区域的自动提取.其具体思路是：（1）将乳腺区域图像提取成等大的子图像作为待测乳腺图像感兴趣区域;（2）将ICA应用于乳腺图像感兴趣区域得到基图像;（3）将待识别乳腺图像感兴趣区域在基图像所构成的子空间进行投影求得待测乳腺图像感兴趣区域的特征矢量;（4）用人工神经网络分类方法进行乳腺图像感兴趣区域的模式判别.对临床实际病例的试验结果表明,该方法的检出率为91%,与同类研究检出率相当.本研究方法简单有效,并具有较高的智能性,为ROI的自动提取提供了新的研究思路.     

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

Primrose syndrome is a congenital malformation syndrome characterized by intellectual disability, developmental delay, progressive muscle wasting, and ear lobe calcification. Mutations in the ZBTB20 gene have been established as being accountable for this syndrome. In this study, a novel de novo ZBTB20 mutation, NM_001164342.2:c.1945C>T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a female patient presenting a typical Primrose phenotype. Because the present patient exhibited recurrent otitis media, detailed immunological examinations were performed in this study and subnormal immunoglobulin levels were firstly identified in a Primrose patient. Anatomical anomaly of the inner ear has never been reported in this patient and WES data did not include any relevant variants causally linked with the immunologic defect. Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. Because subnormal levels of IgG2 in this patient might be caused by an unrelated and still uncharacterized genetic cause, further studies are required to prove the causal link between aberrant ZBTB20 function and immunodeficiency.     

Other genomic disorders and congenital heart disease

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.     

Linkage relationships between a major gene for catechol-o-methyltransferase activity and 25 polymorphic marker systems

Segregation analysis has provided evidence suggesting the existence of a major gene for catechol-o-methyltransferase (COMT) activity in man. Five large families (4 Caucasian, 1 black), with a total of 1,189 individuals, were ascertained as part of a genetic study of blood pressure. Erythrocyte COMT activity and status at 25 polymorphic genetic marker loci were determined on more than 518 individuals in these pedigrees. Genetic linkage analysis of COMT with each of the 25 marker loci was performed in two ways: (1) using parameter estimates from segregation analysis of untransformed COMT activity, and (2) using parameter estimates from segregation analysis of the power transformation of the COMT activity that maximized the likelihood of the genetic hypothesis in each family. Tight and close linkage were excluded at 21 and 15 loci, respectively. A lod score of 1.27 at θ = 0.1 was found between the loci for COMT activity and phosphogluconate dehydrogenase (PGD). Transformation of the data had little effect on the outcome of the linkage analysis.     

The osmotic behaviour of toad skin epithelium (Bufo viridis)

The effect of saline adaptation on the intracellular Na, K, Cl, P concentrations and dry weight content of the toad skin epithelium (Bufo viridis) was studied using the technique of electron microprobe analysis. The measurements were performed on isolated abdominal skins either directly after dissection or after additional incubation in Ussing-type chambers.Adaptations of the toads to increasing NaCl concentrations for 7 days resulted in increased blood plasma osmolarity and a parallel increase in the cellular electrolyte, P and dry weight concentrations of the epithelium, the K increase representing the most significant fraction of the intracellular osmolarity increase. No evidence was obtained to show that the nucleus and cytoplasm reacted differently from each other and all living epithelial cell types basically showed the same response.Incubation of the isolated skins under control conditions showed a drastic inhibition of the transepithelial Na transport after adaptation to high salinities. In spite of the large variations in the transport rate almost identical intracellular electrolyte concentrations were observed. In tap water adapted toads the average cellular concentrations were 8.8 mmole/kg wet weight for Na, 109.6 for K, 41.5 for Cl, and 135.3 for P, respectively. Incubation of the skin with Ringer's solution of different osmolarities demonstrated that the epithelial cells are in osmotic equilibrium with the inner bathing solution. The results are consistent with the view that the osmotic adaptation is mainly accomplished by the movement of water.This work was supported by grants from the Deutsche Forschungsgemeinschaft and the Stiftung Volkswagenwerk     

HIV/AIDS主要临床测查工具简评

HIV/AIDS给患者带来了心理、生理、社会、家庭等多方面的问题 ,心理学家和临床工作者根据临床经验修订和编制了多方面的临床测查工具 ,本文着重介绍了情绪、症状、心理卫生方面心理测量学指标较好的几个测查工具 ,以供国内学者研究之用     

一种用ICA去除瞬态诱发耳声发射伪迹的新方法

如何去除伪迹是瞬态诱发耳声发射检测中一个关键的问题。本研究提出了一种用ICA去除伪迹的新方法。首先用四组线性增长的刺激声在耳道内录音 ,得到的波形是瞬态诱发耳声发射和伪迹的混叠。因为伪迹和瞬态诱发耳声发射是统计独立的 ,而且伪迹随刺激声的变化线性增长 ,而瞬态诱发耳声发射随刺激声的变化非线性增长 ,逐渐趋于饱和 ,所以它们在混叠信号中具有不同的混叠系数。用ICA算法可以将各独立分量及混叠矩阵估计出来 ,伪迹是其中的一个独立分量。然后将伪迹的波形置零后再进行一次混叠 ,便达到了去除伪迹的目的。最后通过与传统的DNLR方法比较 ,证明这种方法是有效的     

藏猪白细胞介素4基因Cdna的克隆及序列分析

目的：克隆藏猪白细胞介素4基因cDNA。方法：从体外ConA刺激70小时的藏猪外周血淋巴细胞中提取总RNA，应用RT-PCR技术扩增，pMD-T载体连接，常规转化后，进行酶切及序列测定进行鉴定。结果：研究表明克隆得到的IL-4基因cDNA与成华猪的IL-4同源性达到99％，与长白杂交猪的同源率为98％。结论：从藏猪外周血淋巴细胞中成功地分离到IL-4基因。     

原发性肝癌患者抑郁症状与不成熟防御机制的关系

目的：了解原发性肝癌（PLC）患者的抑郁症状和不成熟防御机制（IDM）的水平，探讨PLC患者的抑郁症状与IDM的关系。方法：采用流调用抑郁自评量表（CES－D）和防御式方式问卷（DSQ）对PLC患者和健康组各100例进行调查。结果：1）PLC患者中49％可能或肯定有抑郁症状，其中23％肯定有抑郁症状，其发生率高于健康组；2）PLC组的CES－D总分高于健康组；3）PLC组比健康组采用较多分裂和潜意显现机制，采用较少抱怨机制；4）肯定有抑郁症状者比无抑郁症状者采用较多IDM；5）两组CES－D总分与IDM均分呈显著正相关，Pearson r为0.473-0.776，其中PLC组为0．473。结论：抑郁症状是PLC患者常见的负性情绪，医护人员应引起重视，并指导患者采用成熟的防御机制代替不成熟防御机制，预防并减轻患者的抑郁症状，以提高患者的生活质量。