应用检验信息系统在医院检验科实现全面质量管理

本文介绍了全面质量管理的概念，并认为TQM实际上是一个数据驱动的管理活动。检验信息系统的优点就在于能够提供各种检验数据，文中阐述了如何利用检验信息系统的这一优点，使其成为医院检验科进行全面质量管理的重要工具。     

Interaction of sensory and cognitive processes during visual recognition: The role of the associative areas of the cerebral cortex

The first part of the present study used a model of Alzheimers disease in two groups of animals (three monkeys in each), given injections of neurotoxins (monkeys of group I) and physiological saline (monkeys of group II). Before injections, all monkeys were trained to discriminate stimuli containing different types of information (spatial frequency grids and geometrical figures of different colors and with different spatial relationships between objects) and to perform spatial selection. The dynamics of impairments in the characteristics of working memory were identified using delayed differentiation tasks in monkeys of both groups before injections and every two months after injections. Quantitative measures of impairments were made using the entropy of visual recognition, which characterizes uncertainty in decision-taking. The development of Alzheimers disease in rhesus macaques was characterized by a deficit of working memory, resulting from lesions to the two component processes of memory. Impairments of the first of these in monkeys of group I were manifest as a significant increase in entropy, which is associated with correct decision-taking. The magnitude of the increase depended on the type of visual information. Impairments of the second component were characterized by increases in entropy associated with refusals to take decisions and were independent of the delay duration and the type of visual information. Monkeys given injections of physiological saline showed no significant changes in these characteristics. The features of working memory were also studied in the second part of the investigation, using four groups of Rhesus macaques: intact, those with bilateral extirpation of the sulcus principalis or field 7 or both: degradation again identified two components. Entropy associated with this was increased significantly for most of the stimuli tested on monkeys of all extirpation groups as compared with intact animals. Significant differences were found in these characteristics for a number of stimuli, which depended on the location of the structures removed. The characteristics of impairments of the components of working memory resulting in the development of Alzheimers disease showed that the cholinergic mechanisms responsible for sensory processing differ from those involved in decision-taking. The structural-functional organization of the interaction of sensory and cognitive processes controlled by the motivation and attention systems is discussed, as is the role of the associative areas of the cortex.Translated from Rossiiskii Fiziologicheskii Zhurnal imeni I. M. Sechenova, Vol. 89, No. 10, pp. 1226–1239, October, 2003.     

混合遗传算法在医学图像配准中的应用

针对遗传算法和梯度算法各自的优点和缺陷,提出了遗传算法和梯度算法相结合的松散耦合和紧密耦合两种混合遗传算法,并利用基于排挤的小生境技术对其性能进行了改进,使其在搜索能力和收敛速度上都有了较大提高。利用此算法成功实现了以互信息为相似性测度的医学图像配准。计算实例结果表明,本算法能够有效克服局部极值的影响,具备较强的抗噪能力,是一个精度高、稳定性好的医学图像配准算法。     

Phenotype delineation of ZNF462 related syndrome

Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the phenotype of 10 individuals with ZNF462 loss of function variants. Herein, we present 14 new individuals with loss of function variants to the previous studies to delineate the syndrome of loss of function in ZNF462. Collectively, these 24 individuals present with recurring phenotypes that define a multiple congenital anomaly syndrome. Most have some form of developmental delay (79%) and a minority has autism spectrum disorder (33%). Characteristic facial features include ptosis (83%), down slanting palpebral fissures (58%), exaggerated Cupid's bow/wide philtrum (54%), and arched eyebrows (50%). Metopic ridging or craniosynostosis was found in a third of study participants and feeding problems in half. Other phenotype characteristics include dysgenesis of the corpus callosum in 25% of individuals, hypotonia in half, and structural heart defects in 21%. Using facial analysis technology, a computer algorithm applying deep learning was able to accurately differentiate individuals with ZNF462 loss of function variants from individuals with Noonan syndrome and healthy controls. In summary, we describe a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features.     

Probe selection algorithm for oligonucleotide array-based medium-resolution genotyping

Medium-resolution genotyping has the goal of distinguishing different subgroups instead of each element in a group. An oligonucleotide array provides an inexpensive, high-throughput method to identify differences in DNA sequence among individuals, which is fundamental for genotyping. As the cost and difficulty of designing and fabricating the oligonucleotide array dramatically increase with the number of probes used, it is therefore important to have a design with a minimum number of probes meeting the requirement of medium-resolution genotyping. The first algorithm for designing and selecting probes for oligonucleotide array-based medium-resolution typing is reported. The goal in deriving the algorithm was to select a minimum number of probes from a large probe set on the premise of minimum loss of resolution. The algorithm, which was based on entropy, conditional entropy and mutual information theory, was used to select the minimum number of probes from a large probe set. The algorithm was tested on a human leukocyte antigen (HLA) sequence data set. Thirty probes were selected from 390 probes for HLA-A, and 60 probes were selected from 767 probes for HLA-B. Although the number of probes was reduced by almost ten times, the distinguishability was reduced only a little, by 0.45% (from 99.90% to 99.45%) for HLA-A and 0.27% (from 99.84% to 99.57%) for HLA-B, respectively. This is a satisfactory and practical result.     

Significance of skin temperature changes in surface electromyography

Summary Differing results have been reported concerning the direction and quantity of the electromyogram (EMG) amplitude response to changes in tissue temperature. The EMG signals from the soleus muscle of six healthy human subjects were therefore recorded during dynamic exercise (concentric contractions) at ambient temperatures of 30°C and 14°C. The mean skin temperature above the muscle investigated was 32.9° C and 21.7° C, respectively. The core temperature, estimated by rectal temperature, was unchanged. The cooling of the superficial tissues caused approximately a doubling of the EMG amplitude. For the probability level 0.9 in the amplitude probability distribution function, the average signal level increased from 73 V to 135 V (P=0.02). The average mean power frequency of the EMG signal was reduced from 142 Hz to 83 Hz (P=0.004). The amplitude increase was not due to shivering but other possible explanations are presented. As the changes in T _sk investigated were within the range which may occur normally during the working hours, it was concluded that T _sk should be carefully controlled in vocational EMG studies.     

Brain mapping analysis in patients with hepatic encephalopathy

Summary Topographical analysis of cerebral electrical activity was performed in 44 patients with hepatic encephalopathy. These patients were classified in 5 groups according to clinical criteria. Eight healthy subjects were used as a control group. All were studied in an awake, eyes closed, condition and some [Control Group (CG), Group 0 (G0), Group 1 (G1) and Group 2 (G2)] also in an awake, eyes open, condition. The awake, eyes closed, maps showed marked differences in the power spectral density (PSD) of the different bands, when comparing normal subjects with patients with several degrees of hepatic encephalopathy. These differences were related to the degree of clinical involvement, mainly in the alpha and delta PSD bands. The combination of a decreased alpha PSD, increased delta PSD, and decreased mean dominant frequency (MDF) allowed a clear discrimination between the different clinical groups. The differences observed between awake, eyes closed, and awake, eyes open, conditions were especially helpful to discriminate between CG subjects and G0, G1 and G2 patients.     

A new physical assay method for tobacco mosaic virus using a radioactive virus recovery standard and the first derivative of the ultraviolet absorption spectrum

A new physical assay method for tobacco mosaic virus is described which incorporates two improvements on previous procedures. Losses of up to 75% of virus during extraction are corrected by adding a trace of radioactive virus to leaf samples before homogenization, and determining percentage recovery of radioactivity in final virus preparations. Estimation of virus concentration in partially purified preparations is from the first derivative (dA/d lambda) of the ultraviolet absorption spectrum, using a pronounced signal from the tryptophan fine-structure absorption band at 285-293 nm. This method is highly insensitive to ultraviolet-absorbing contaminants, which cause errors and increase variation between replicates, when estimation of virus concentration is by normal measurement of ultraviolet absorption (A260). The method can be applied to at least some other viruses.     

人体熵流的数学模型

伊·普利高津的耗散结构理论中，有一个著名的总熵变公式ｄｓ＝ｄｓｅ＋ｄｓｉ把上述公式用于人体研究，国内外尚未见报导。在前人对人体热力学系统研究的基础上，本文建立了一个人体熵流的数学模型，为进一步展开研究，提供了有力工具并奠定了可靠的理论基础。     

运用变性高效液相色谱对肺炎克雷伯菌产ESBL进行基因分型

目的 通过运用变性高效液相色谱（DHPLC）技术对前期研究已确认产超广谱β-内酰胺酶（ESBL）的肺炎克雷伯菌临床分离株TEM型质粒进行基因分型,试图建立一种方便快捷的用于ESBL分子诊断及其流行病学监测的新方法.方法 利用PCR技术从肺炎克雷伯菌临床分离株中扩增出TEM型质粒的编码序列,扩增产物运用DHPLC技术进行分析,分析提示,异常的样本通过测序确定其基因突变的类型,最后通过比对确定其基因型.结果 共分析了101例肺炎克雷伯菌临床分离株,全部样本均扩增出TEM型质粒的编码序列,经过DHPLC分析,52例（51.4%）样本表现为单一的洗脱峰,其形态与TEM-1标准菌株的峰型相一致,测序确定它们的碱基序列亦相一致,不存在变异,为TEM-1型;49例（48.6%）样本表现为异常的洗脱峰,它们均为双峰,形态一致,但异源双链峰的高度有差异,测序结果表明它们均存在四种相同的基因突变,在NCBI网站比对后确定为TEM-116;测序结果还提示,部分样本中TEM-1和TEM-116混合存在,其比例的不同表现为DHPLC时异源双链峰高度的差异;文献检索表明,本次确定的TEM-116为一新的基因亚型,为国内首次报道.结论 DHPLC具有简便快捷、高通量和自动化的特点,重复性好,不仅可对已知突变作出即时诊断,还可发现新的基因亚型,不失为一种较好的ESBL分子诊断方法及其流行病学监测手段.