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91.
目的 检测分析被诊断为X连锁视网膜色素变性(XLRP)的三个中国家系内的基因突变。设计 基因研究。研究对象 三个中国XLRP家系共27位受试者(其中18人为男性)。方法 由同一医生收集家系成员的详细临床资料并进行眼部检查,采集三个家系的先证者及有条件采血者的外周静脉血,提取基因组DNA。应用PCR技术扩增RPGR和RP2基因的全部外显子和内含子交界区序列,包括RPGR基因15号外显子开放阅读框,产物直接测序进行突变分析。主要指标 临床特征及基因测序结果。结果 基因筛查证实了两个RPGR基因的新型无义突变(c.1541C>G;p.S514X 和 c.2833G>T;p.E945X) 及一个错义突变(c.607G>C;p.A203P)。基因型-表型的相关性分析表明家系3患者在接近ORF15下游位置存在突变,这种突变导致视锥细胞功能的早期丧失。ORF15无义突变的女性携带者临床表型重,呈现出部分显性遗传的特点。结论 本研究证实了三种RPGR基因的新型突变,这一结果扩展了RPGR的突变谱及表型谱。 相似文献
92.
Purpose
Chest wall pain is an uncommon but bothersome late complication following lung stereotactic body radiation therapy. Despite numerous studies investigating predictors of chest wall pain, no clear consensus has been established for a chest wall constraint. The aim of our study was to investigate factors related to chest wall pain in a homogeneous group of patients treated at our institution.Patients and methods
All 122 patients were treated with the same stereotactic body radiation therapy regimen of 48 Gy in three fractions, seen for at least 6 months of follow-up, and planned with heterogeneity correction. Chest wall pain was scored according to the Common Terminology Criteria for Adverse Events classification v3.0. Patient (age, sex, diabetes, osteoporosis), tumour (planning target volume, volume of the overlapping region between planning target volume and chest wall) and chest wall dosimetric parameters (volumes receiving at least 30, 40, and 50 Gy, the minimal doses received by the highest irradiated 1, 2, and 5 cm3, and maximum dose) were collected. The correlation between chest wall pain (grade 2 or higher) and the different parameters was evaluated using univariate and multivariate logistic regression.Results
Median follow-up was 18 months (range: 6–56 months). Twelve patients out of 122 developed chest wall pain of any grade (seven with grade 1, three with grade 2 and two with grade 3 pain). In univariate analysis, only the volume receiving 30 Gy or more (P = 0.034) and the volume of the overlapping region between the planning target volume and chest wall (P = 0.038) significantly predicted chest wall pain, but these variables were later proved non-significant in multivariate regression.Conclusion
Our analysis could not find any correlation between the studied parameters and chest wall pain. Considering our present study and the wide range of differing results from the literature, a reasonable conclusion is that a constraint for chest wall pain is yet to be defined. 相似文献93.
目的研究和开发支持中医和现代生物医学本体和术语集的语义标注系统。方法以MedPortal本体库和中医临床术语集等为术语资源库,设计语义标注系统工作流程和功能框架,并开发Web应用系统。结果构建了一个基于Web的中医药文献语义标注系统,支持语料库管理与维护、术语词典管理、语义标注和语义检索等功能,既可以为基于机器学习的信息抽取算法研究提供训练集,又能实现语义层面的多来源数据集成与知识融合。结论该中医药文献语义标注系统设计方案已经过实际项目验证,可为其他同类系统研发提供参考。 相似文献
94.
首都医科大学通过60年辛勤耕耘、精益求精,秉承“顶天立地”的人才培养理念,为社会培养了大批高水平的学术型与应用型医药卫生人才。回顾学校60年来本专科教育、全科医学教育、国际教育、研究生教育的人才培养成果,以总结经验并鼓舞全体首医人进一步求真务实、凝心聚力、积极进取、追求卓越,努力将学校建设成为国际一流的研究型医科大学。 相似文献
95.
Methicillin‐resistant Staphylococcus aureus eradication in young infants should include the diaper area and treat housing contacts 下载免费PDF全文
96.
97.
Rebecca L. King Albert C. Yan Debora R. Sekiguchi John K. Choi 《Journal of cutaneous pathology》2015,42(12):1012-1017
Reactive lymphoid infiltrates of the skin composed predominantly of gamma‐delta (γδ) T cells are not well described in the literature. Herein we report a case of an otherwise healthy 4‐year‐old male who presented with a waxing and waning papular rash characterized by small, discrete crusted papules spread across his trunk, face and extremities. Clinical evaluation revealed no evidence of systemic disease. Microscopic examination revealed a dermal, perivascular infiltrate of highly atypical lymphocytes with a γδ T cell phenotype, worrisome for primary cutaneous γδ T cell lymphoma. The clinical course, however, was that of a reactive condition and prompted consideration of a diagnosis of pityriasis lichenoides et varioliformis acuta (PLEVA) and lymphomatoid papulosis (LyP). In many ways, this case defies current classification schemes and seems to expand the spectrum of reactive γδ T cell infiltrates of the skin. 相似文献
98.
M. R. D. Maslin S. K. Lloyd S. Rutherford S. Freeman A. King D. R. Moore K. J. Munro 《Journal of the Association for Research in Otolaryngology》2015,16(5):631-640
Individuals with sudden unilateral deafness offer a unique opportunity to study plasticity of the binaural auditory system in adult humans. Stimulation of the intact ear results in increased activity in the auditory cortex. However, there are no reports of changes at sub-cortical levels in humans. Therefore, the aim of the present study was to investigate changes in sub-cortical activity immediately before and after the onset of surgically induced unilateral deafness in adult humans. Click-evoked auditory brainstem responses (ABRs) to stimulation of the healthy ear were recorded from ten adults during the course of translabyrinthine surgery for the removal of a unilateral acoustic neuroma. This surgical technique always results in abrupt deafferentation of the affected ear. The results revealed a rapid (within minutes) reduction in latency of wave V (mean pre = 6.55 ms; mean post = 6.15 ms; p < 0.001). A latency reduction was also observed for wave III (mean pre = 4.40 ms; mean post = 4.13 ms; p < 0.001). These reductions in response latency are consistent with functional changes including disinhibition or/and more rapid intra-cellular signalling affecting binaurally sensitive neurons in the central auditory system. The results are highly relevant for improved understanding of putative physiological mechanisms underlying perceptual disorders such as tinnitus and hyperacusis. 相似文献
99.
Benyam Kinde Harrison W. Gabel Caitlin S. Gilbert Eric C. Griffith Michael E. Greenberg 《Proceedings of the National Academy of Sciences of the United States of America》2015,112(22):6800-6806
DNA methylation at CpG dinucleotides is an important epigenetic regulator common to virtually all mammalian cell types, but recent evidence indicates that during early postnatal development neuronal genomes also accumulate uniquely high levels of two alternative forms of methylation, non-CpG methylation and hydroxymethylation. Here we discuss the distinct landscape of DNA methylation in neurons, how it is established, and how it might affect the binding and function of protein readers of DNA methylation. We review studies of one critical reader of DNA methylation in the brain, the Rett syndrome protein methyl CpG-binding protein 2 (MeCP2), and discuss how differential binding affinity of MeCP2 for non-CpG and hydroxymethylation may affect the function of this methyl-binding protein in the nervous system. 相似文献
100.