病理性近视的家系研究

为了探讨我国病理性近视的遗传模式,对90个病理性近视大家系进行了分离分析。简单分离分析采用先验法和SEGRAN-B软件,进行拟合优度卡方检验,比较实际分离比与理论分离比的符合程度;复合分离分析运用SAGE-REGD软件进行孟德尔遗传模型(主基因、显性、隐性、共显性)和非孟德尔遗传模型(非传递、环境、一般)的拟合。结果显示,婚配类型为A*N的家系符合常染色体显性遗传,散发概率为13．8％,婚配类型为N*N的家系符合常染色体隐性遗传,散发概率为16．3％,但常染色体显性遗传不能除外,复合分离分析接受孟德尔遗传的显性、隐性、共显性和主基因模型,共显性模型的可能性最大,基因频率为0．21442999。因此,我国病理性近视存在常染色体显性和隐性遗传模式,并有一定比例的散发病例,具有遗传异质性。     

基于深度学习的阴道微生态病理图像自动诊断

阴道微生态病理图像是诊断细菌性阴道病的重要依据,但对其人工分析需要花费大量时间精力,导致诊断效率不高,因此需要寻求针对病理图像的自动诊断新方法.本文提出一种阴道微生态病理图像自动诊断模型ResLab,该模型以阴道微生态病理图像作为训练数据集,利用深度学习技术对病理图像进行端到端分析,预测Nugent评分,辅助医生进行分...     

贵金属-磁性异质结构纳米材料及其生物医学应用

异质结构纳米颗粒不仅可以同时拥有多种单组分纳米颗粒不同的性能,实现多功能化,还可能因组分间的相互耦合作用而产生单组分颗粒不具备的新性能,因而在化学化工、生物医学、能源催化等领域引起广泛关注.贵金属具有特殊的光学性质和催化活性;磁性纳米颗粒拥有优异的磁性能,因而备受研究人员关注.贵金属-磁性异质结构纳米材料集合了两种材料优异的性能,能通过不同的异质结构展现出不同的性质.本文根据异质结构的类型,将贵金属-磁性异质结构纳米材料分为核壳结构、蛋黄-壳结构和哑铃结构3种,总结了不同贵金属-磁性异质结构纳米颗粒的特性、制备方法及应用,并重点论述了其在诊疗一体化探针、多模态成像探针和刺激响应型药物载体生物医学领域上的应用.     

病理性近视与HLA的关联性研究

用ＰＣＲ－ＲＦＬＰ方法对江浙沪籍汉族５５例病理性近视眼（ＰＭ）患者的ＨＬＡⅡ类ＤＱＢ１基因的第二个外显子进行了基因分型。结果发现ＨＬＡ－ＤＱＢ１＊０２０１、＊０３０３、＊０４０１等位基因在ＰＭ患者中和正常人中的分布有显著的差异（Ｐｃ＜０．０５,ＡＦ分别为０．１６３６,０．１０９１,０．１６３６,０．１０９１ｖｓ．０．０４００,０．０３００,０．０４００,０．０２００）,可能与ＰＭ的致病相关。ＤＱＢ     

Automatic Inference of Sequence from Low-Resolution Crystallographic Data

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Automatic Background Knowledge Selection for Matching Biomedical Ontologies

Ontology matching is a growing field of research that is of critical importance for the semantic web initiative. The use of background knowledge for ontology matching is often a key factor for success, particularly in complex and lexically rich domains such as the life sciences. However, in most ontology matching systems, the background knowledge sources are either predefined by the system or have to be provided by the user. In this paper, we present a novel methodology for automatically selecting background knowledge sources for any given ontologies to match. This methodology measures the usefulness of each background knowledge source by assessing the fraction of classes mapped through it over those mapped directly, which we call the mapping gain. We implemented this methodology in the AgreementMakerLight ontology matching framework, and evaluate it using the benchmark biomedical ontology matching tasks from the Ontology Alignment Evaluation Initiative (OAEI) 2013. In each matching problem, our methodology consistently identified the sources of background knowledge that led to the highest improvements over the baseline alignment (i.e., without background knowledge). Furthermore, our proposed mapping gain parameter is strongly correlated with the F-measure of the produced alignments, thus making it a good estimator for ontology matching techniques based on background knowledge.     

鼠痘的病理诊断及分析

鼠痘是由鼠痘病毒引的实验小鼠的一种烈性传染病,分为急性和慢性两型,但大部分为隐性感染。鼠痘的病理组织学特点是,出现皮疹,肝脏、脾脏、肠道、淋巴结、肾脏等出现程度不同的灶性坏死,在这些损伤部位的上皮细胞和内皮细胞出现境界清楚、周围有晕、成群存在、嗜酸性胞浆内包涵体．利用鼠痘抗体,通过免疫酶组织化学染色,可以对组织内鼠痘病毒进行定位诊断。电镜下,在肝脏等组织内可观察到鼠痘病毒颗粒。     

A Genome-Wide Association Analysis Identified a Novel Susceptible Locus for Pathological Myopia at 11q24.1

Myopia is one of the most common ocular disorders worldwide. Pathological myopia, also called high myopia, comprises 1% to 5% of the general population and is one of the leading causes of legal blindness in developed countries. To identify genetic determinants associated with pathological myopia in Japanese, we conducted a genome-wide association study, analyzing 411,777 SNPs with 830 cases and 1,911 general population controls in a two-stage design (297 cases and 934 controls in the first stage and 533 cases and 977 controls in the second stage). We selected 22 SNPs that showed P-values smaller than 10⁻⁴ in the first stage and tested them for association in the second stage. The meta-analysis combining the first and second stages identified an SNP, rs577948, at chromosome 11q24.1, which was associated with the disease (P = 2.22×10⁻⁷ and OR of 1.37 with 95% confidence interval: 1.21–1.54). Two genes, BLID and LOC399959, were identified within a 200-kb DNA encompassing rs577948. RT–PCR analysis demonstrated that both genes were expressed in human retinal tissue. Our results strongly suggest that the region at 11q24.1 is a novel susceptibility locus for pathological myopia in Japanese.     

Biomedical advances from tissue culture

The demonstration that the “dedifferentiation” of cells commonly observed in the early days of tissue culture was due to selective overgrowth of fibroblasts led to enrichment culture techniques (alternate animal and culture passage) designed to give a selective advantage to functionally differentiated tumor cells. These experiments resulted in the derivation of a large number of functionally differentiated clonal strains of a range of cell types. These results gave rise to the hypothesis that cells in culture accurately represent cells in vivo but without the complex in vivo environment. This concept has been strengthened with the development of hormonally defined culture media in combination with functionally differentiated clonal cell lines, which have augmented the potential of tissue culture studies. The use of hormonally defined media in place of serum-supplemented media demonstrates that hormonal responses and dependencies can be discovered in culture. Discoveries of hormonal dependencies of cancer cells has led to therapies targeting intracellular signaling pathways while discoveries of hormonal responses of pluripotent cells are helping to identify the potential application of stem cells. In these and other ways tissue culture technology will continue to contribute to solving problems of human health.     

Application of Random Coefficient Regression Model to Myopia Data: A Case Study

A one-year birth cohort from Northern Finland has been followed up since 1966. As a part of this study, we are in this paper concerned with analysing the progression of myopia (nearsightness) up to the age of 20 years. The random coefficient regression model was chosen for the analysis because of the large individual variation in the development of myopia. Maximum likelihood estimates for the parameters in the model were obtained via the expectation maximization (EM) algorithm. It is shown how the estimated model can be used to predict future observations for an individual using the previously recorded refractive error measurements as well as other relevant data on the patient in question.     

Modeling Species Distributions from Heterogeneous Data for the Biogeographic Regionalization of the European Bryophyte Flora

The definition of biogeographic regions provides a fundamental framework for a range of basic and applied questions in biogeography, evolutionary biology, systematics and conservation. Previous research suggested that environmental forcing results in highly congruent regionalization patterns across taxa, but that the size and number of regions depends on the dispersal ability of the taxa considered. We produced a biogeographic regionalization of European bryophytes and hypothesized that (1) regions defined for bryophytes would differ from those defined for other taxa due to the highly specific eco-physiology of the group and (2) their high dispersal ability would result in the resolution of few, large regions. Species distributions were recorded using 10,000 km² MGRS pixels. Because of the lack of data across large portions of the area, species distribution models employing macroclimatic variables as predictors were used to determine the potential composition of empty pixels. K-means clustering analyses of the pixels based on their potential species composition were employed to define biogeographic regions. The optimal number of regions was determined by v-fold cross-validation and Moran’s I statistic. The spatial congruence of the regions identified from their potential bryophyte assemblages with large-scale vegetation patterns is at odds with our primary hypothesis. This reinforces the notion that post-glacial migration patterns might have been much more similar in bryophytes and vascular plants than previously thought. The substantially lower optimal number of clusters and the absence of nested patterns within the main biogeographic regions, as compared to identical analyses in vascular plants, support our second hypothesis. The modelling approach implemented here is, however, based on many assumptions that are discussed but can only be tested when additional data on species distributions become available, highlighting the substantial importance of developing integrated mapping projects for all taxa in key biogeographically areas of Europe, and the Mediterranean peninsulas in particular.     

Collaborative Mining and Interpretation of Large-Scale Data for Biomedical Research Insights

Biomedical research becomes increasingly interdisciplinary and collaborative in nature. Researchers need to efficiently and effectively collaborate and make decisions by meaningfully assembling, mining and analyzing available large-scale volumes of complex multi-faceted data residing in different sources. In line with related research directives revealing that, in spite of the recent advances in data mining and computational analysis, humans can easily detect patterns which computer algorithms may have difficulty in finding, this paper reports on the practical use of an innovative web-based collaboration support platform in a biomedical research context. Arguing that dealing with data-intensive and cognitively complex settings is not a technical problem alone, the proposed platform adopts a hybrid approach that builds on the synergy between machine and human intelligence to facilitate the underlying sense-making and decision making processes. User experience shows that the platform enables more informed and quicker decisions, by displaying the aggregated information according to their needs, while also exploiting the associated human intelligence.     

NIH小鼠纤维腺瘤流行病学及病理学诊断

目的对本单位封闭群NIH小鼠发生的皮下肿瘤进行诊断。方法统计发病率、发病体重、分娩胎次等信息,并切除肿瘤组织制作病理切片。结果该肿瘤发病率为1.32%,病理切片诊断为纤维腺瘤。结论本单位饲养繁殖的NIH小鼠发生皮下肿瘤诊断为纤维腺瘤,其发病原因需进一步研究探索。     

基于独立元分析和非线性指数分析的脑电信号中伪迹分量的自动去除

脑电(electroencephalography,EEG)信号中不可避免地存在着眼动、心跳、肌电信号以及线性噪声等伪迹干扰,这些伪迹的存在极大地影响了脑电信号分析的准确性,因此在进行脑电信号分析前需要去除伪迹干扰。为了有效地去除伪迹,结合独立元分析和非线性指数分析,提出一种自动识别并去除脑电信号中伪迹分量的方法。该方法还可同时用于提取脑电信号中的基本节律如!波等。相应的模拟与实际脑电数据的实验结果表明所提议的方法具有很好的识别和去除脑电信号伪迹分量的性能。     

普鲁士蓝纳米粒子在生物医学诊断和治疗中的应用及进展

随着生物医学诊断和治疗的持续深入研究,出现了多种医学诊断和治疗新方法,为人类的健康提供了更大的保证,其中纳米生物技术在生物医学诊断和治疗中的应用日益增多,基于纳米技术,开发传统材料的生物医学新应用成为了人们的研究热点。普鲁士蓝是一种历史悠久的蓝色染料,其制备过程简单、绿色、成本低,化学结构稳定,具有优良的物理、化学、光学以及磁性等性能,已经在许多领域得到了广泛的应用。近年来,普鲁士蓝开始在生物医学诊断和治疗领域中崭露头角,它已经成功的被开发为新型的核磁共振造影剂和光声成像造影剂,并且在药物输送系统和光热治疗等领域也开始占有一席之地,开发基于纳米技术的普鲁士蓝的生物医学应用已经成为极具吸引力的研究方向。本文对普鲁士蓝在生物医学诊断和治疗中的应用及进展进行综述。     

Mueller矩阵在生物医学检测方面应用的实验研究

Mueller矩阵是公认的能很好地表述介质偏振特性的一种方法,由于散射光偏振在生物组织无创伤诊断技术等诸多领域中的重要应用价值,对组织散射特性的Mueller矩阵的研究成为国际上组织光学的热点之一。研究设计了一种新的测量Mueller矩阵的实验装置:斜入射正接收装置,并推导出一组后续数据处理的算法。由此所获得的Mueller矩阵空间分布图的清晰度不亚于其它所报道的,并且测量方法具有结构简单、方便、准确等优点。实验结果表明:入射角影响Mueller矩阵空间分布图;随着介质浓度的增大,随机介质后向散射Mueller矩阵各元素的空间分布图样减小;同时列举了真实生物组织样品(肌肉组织)的后向散射Mueller矩阵的实测结果,由此证明各向异性生物组织的后向散射Mueller矩阵各元素的空间分布图样与纤维的走向有关。     

基于深度学习的肝脏病理图像中肝脂肪变性分级研究

摘要 目的：设计基于深层神经网络模型用来分析肝脏全景病理切片图像（Whole slide images, WSI）的肝脂肪变性分级方法,以实现对非酒精性脂肪性肝病（Non-alcoholic fatty liver disease, NAFLD）病程的辅助诊断。方法：结合临床诊断,以非酒精性脂肪肝活动度积分（NAFLD activity score, NAS）为评价标准,将肝脂肪变性程度分为无、轻度、中度和重度等四级病程,本研究采用多示例学习的策略构建并训练深度神经网络模型,将训练获得的人工智能模型用来实现计算机自动化诊断肝脏病理切片中肝脂肪变性程度分级。结果：通过使用本研究中的人工智能方法可以在3分钟内对一张WSI进行完整的分析,得到该病患肝脏病理切片中肝脂肪变性分级,训练获得的人工智能模型的AUC为0.97,肝脂肪变性分级的平均准确率为78.18%,macro-F1 score、macro-Precision和macro-Recall分别为79.49、82.03和77.10,其结果展示获得的人工智能模型已满足可辅助临床诊断的水平。结论：本研究基于深度学习技术开发的人工智能方法初步实现快速自动化诊断肝脂肪变性分级,展现了其潜在的临床使用价值。     

Autofluorescence Spectroscopy and Imaging: A Tool for Biomedical Research and Diagnosis

Native fluorescence, or autofluorescence (AF), consists in the emission of light in the UV-visible, near-IR spectral range when biological substrates are excited with light at suitable wavelength. This is a well-known phenomenon, and the strict relationship of many endogenous fluorophores with morphofunctional properties of the living systems, influencing their AF emission features, offers an extremely powerful resource for directly monitoring the biological substrate condition. Starting from the last century, the technological progresses in microscopy and spectrofluorometry were convoying attention of the scientific community to this phenomenon. In the future, the interest in the autofluorescence will certainly continue. Current instrumentation and analytical procedures will likely be overcome by the unceasing progress in new devices for AF detection and data interpretation, while a progress is expected in the search and characterization of endogenous fluorophores and their roles as intrinsic biomarkers.Key words: Endogenous-fluorophores, energeticmetabolism, functionality-monitoring