• 【根据网络拓扑,基因表达数据和基因本体信息检测必需蛋白。】 复制标题 收藏 收藏
    DOI:10.1109/TCBB.2016.2615931 复制DOI
    作者列表:Zhang W,Xu J,Li Y,Zou X
    BACKGROUND & AIMS: :The identification of essential proteins in protein-protein interaction (PPI) networks is of great significance for understanding cellular processes. With the increasing availability of large-scale PPI data, numerous centrality measures based on network topology have been proposed to detect essential proteins from PPI networks. However, most of the current approaches focus mainly on the topological structure of PPI networks, and largely ignore the gene ontology annotation information. In this paper, we propose a novel centrality measure, called TEO, for identifying essential proteins by combining network topology, gene expression profiles, and GO information. To evaluate the performance of the TEO method, we compare it with five other methods (degree, betweenness, NC, Pec, and CowEWC) in detecting essential proteins from two different yeast PPI datasets. The simulation results show that adding GO information can effectively improve the predicted precision and that our method outperforms the others in predicting essential proteins.
    背景与目标: :蛋白质-蛋白质相互作用(PPI)网络中必需蛋白质的鉴定对理解细胞过程具有重要意义。随着大规模PPI数据可用性的提高,已经提出了许多基于网络拓扑的集中度检测方法来检测PPI网络中的必需蛋白。但是,当前大多数方法主要集中在PPI网络的拓扑结构上,而在很大程度上忽略了基因本体注释信息。在本文中,我们提出了一种新的集中度度量,称为TEO,它通过结合网络拓扑,基因表达谱和GO信息来鉴定必需蛋白质。为了评估TEO方法的性能,我们将其与其他五种方法(度,中间性,NC,Pec和CowEWC)进行比较,以检测来自两个不同酵母PPI数据集的必需蛋白质。仿真结果表明,添加GO信息可以有效地提高预测精度,并且我们的方法在预测必需蛋白质方面优于其他方法。
  • 【使用HADDOCK进行信息驱动的蛋白质-DNA对接:这是灵活性的问题。】 复制标题 收藏 收藏
    DOI:10.1093/nar/gkl412 复制DOI
    作者列表:van Dijk M,van Dijk AD,Hsu V,Boelens R,Bonvin AM
    BACKGROUND & AIMS: :Intrinsic flexibility of DNA has hampered the development of efficient protein-DNA docking methods. In this study we extend HADDOCK (High Ambiguity Driven DOCKing) [C. Dominguez, R. Boelens and A. M. J. J. Bonvin (2003) J. Am. Chem. Soc. 125, 1731-1737] to explicitly deal with DNA flexibility. HADDOCK uses non-structural experimental data to drive the docking during a rigid-body energy minimization, and semi-flexible and water refinement stages. The latter allow for flexibility of all DNA nucleotides and the residues of the protein at the predicted interface. We evaluated our approach on the monomeric repressor-DNA complexes formed by bacteriophage 434 Cro, the Escherichia coli Lac headpiece and bacteriophage P22 Arc. Starting from unbound proteins and canonical B-DNA we correctly predict the correct spatial disposition of the complexes and the specific conformation of the DNA in the published complexes. This information is subsequently used to generate a library of pre-bent and twisted DNA structures that served as input for a second docking round. The resulting top ranking solutions exhibit high similarity to the published complexes in terms of root mean square deviations, intermolecular contacts and DNA conformation. Our two-stage docking method is thus able to successfully predict protein-DNA complexes from unbound constituents using non-structural experimental data to drive the docking.
    背景与目标: :DNA的固有灵活性已阻碍了有效的蛋白质-DNA对接方法的发展。在这项研究中,我们扩展了HADDOCK(高歧义性驱动DOCKing)[C。 Dominguez,R.Boelens和A.M.J.J.Bonvin(2003)J.Am.化学Soc。 125,1731-1737]明确涉及DNA的灵活性。 HADDOCK使用非结构性实验数据来驱动刚体能量最小化,半柔性和水提纯阶段的对接。后者允许所有DNA核苷酸和蛋白质残基在预测界面处具有柔韧性。我们评估了由噬菌体434 Cro,大肠杆菌Lac头饰和噬菌体P22 Arc形成的单体阻遏物-DNA复合物的方法。从未结合的蛋白质和典型的B-DNA开始,我们正确地预测了复合物的正确空间分布以及已发布复合物中DNA的特定构象。该信息随后用于生成预先弯曲和扭曲的DNA结构的库,该库用作第二轮对接的输入。最终的顶级解决方案在均方根偏差,分子间接触和DNA构象方面与已发表的复合物具有高度相似性。因此,我们的两阶段对接方法能够使用非结构性实验数据来驱动对接,从而从未结合的成分中成功预测蛋白质-DNA复合物。
  • 【整合在线护理循证信息资源,用于中国的循证护理研究。】 复制标题 收藏 收藏
    DOI:10.1111/j.1440-172X.2012.02067.x 复制DOI
    作者列表:He M,Hu Y
    BACKGROUND & AIMS: :At present Chinese nurses could not get the up-to-date and high-quality evidences efficiently and conveniently due to language barrier and other practical difficulties. This program built a Chinese website of integrated evidence-based network information resources for EBN studies. Researchers hope to provide practical guidance and advice for nurses in non-English-speaking countries..
    背景与目标: :由于语言障碍和其他实际困难,目前中国护士无法高效,便捷地获得最新,高质量的证据。该计划建立了一个综合的基于证据的网络信息资源中文网站,用于EBN研究。研究人员希望为非英语国家的护士提供实用的指导和建议。
  • 【通过相互信息和自适应预测自动对肾脏灌注图像序列进行2D配准。】 复制标题 收藏 收藏
    DOI:10.1007/s10334-012-0337-4 复制DOI
    作者列表:Positano V,Bernardeschi I,Zampa V,Marinelli M,Landini L,Santarelli MF
    BACKGROUND & AIMS: UNLABELLED:The objective of this study was to develop an automatic image registration technique capable of compensating for kidney motion in renal perfusion MRI, to assess the effect of renal artery stenosis on the kidney parenchyma. MATERIALS AND METHODS:Images from 20 patients scheduled for a renal perfusion study were acquired using a 1.5 T scanner. A free-breathing 3D-FSPGR sequence was used to acquire coronal views encompassing both kidneys following the infusion of Gd-BOPTA. A two-step registration algorithm was developed, including a preliminary registration minimising the quadratic difference and a fine registration maximising the mutual information (MI) between consecutive image frames. The starting point for the MI-based registration procedure was provided by an adaptive predictor that was able to predict kidney motion using a respiratory movement model. The algorithm was validated against manual registration performed by an expert user. RESULTS:The mean distance between the automatically and manually defined contours was 2.95 ± 0.81 mm, which was not significantly different from the interobserver variability of the manual registration procedure (2.86 ± 0.80 mm, P = 0.80). The perfusion indices evaluated on the manually and automatically extracted perfusion curves were not significantly different. CONCLUSIONS:The developed method is able to automatically compensate for kidney motion in perfusion studies, which prevents the need for time-consuming manual image registration.
    背景与目标: 取消标签:这项研究的目的是开发一种能够在肾脏灌注MRI中补偿肾脏运动的自动图像配准技术,以评估肾动脉狭窄对肾脏实质的影响。
    材料与方法:使用1.5T扫描仪从计划进行肾脏灌注研究的20位患者中获取图像。自由呼吸的3D-FSPGR序列用于在注入Gd-BOPTA之后获取涵盖两个肾脏的冠状视图。开发了一种两步配准算法,包括使二次方差最小的预配准和使连续图像帧之间的互信息(MI)最大化的精细配准。基于MI的注册过程的起点由自适应预测器提供,该预测器能够使用呼吸运动模型预测肾脏运动。针对专家用户执行的手动注册对算法进行了验证。
    结果:自动和手动定义的轮廓之间的平均距离为2.95±0.81 mm,与手动注册程序的观察者间差异(2.86±0.80 mm,P = 0.80)没有显着差异。在手动和自动提取的灌注曲线上评估的灌注指数没有显着差异。
    结论:开发的方法能够在灌注研究中自动补偿肾脏运动,从而避免了耗时的手动图像配准。
  • 【通过感官信息实现局部和全局的协调稳定。】 复制标题 收藏 收藏
    DOI:10.1007/s002210000439 复制DOI
    作者列表:Fink PW,Foo P,Jirsa VK,Kelso JA
    BACKGROUND & AIMS: :In studies of rhythmic coordination, where sensory information is often generated by an auditory stimulus, spatial and temporal variability are known to decrease at points in the movement cycle coincident with the stimulus, a phenomenon known as anchoring (Byblow et al. 1994). Here we hypothesize that the role of anchoring may be to globally stabilize coordination under conditions in which it would otherwise undergo a global coordinative change such as a phase transition. To test this hypothesis, anchoring was studied in a bimanual coordination paradigm in which either inphase or antiphase coordination was produced as auditory pacing stimuli (and hence movement frequency) were scaled over a wide range of frequencies. Two different anchoring conditions were used: a single-metronome condition, in which peak amplitude of right finger flexion coincided with the auditory stimulus; and a double-metronome condition, in which each finger reversal (flexion and extension) occurred simultaneously with the auditory stimuli. Anchored reversal points displayed lower spatial variation than unanchored reversal points, resulting in more symmetric phase plane trajectories in the double- than the single-metronome condition. The global coordination dynamics of the double-metronome condition was also more stable, with transitions from antiphase to inphase occurring less often and at higher movement frequencies than in the single-metronome condition. An extension of the Haken-Kelso-Bunz model of bimanual coordination is presented briefly which includes specific coupling of sensory information to movement through a process we call parametric stabilization. The parametric stabilization model provides a theoretical account of both local effects on the individual movement trajectories (anchoring) and global stabilization of observed coordination patterns, including the delay of phase transitions.
    背景与目标: 在有节奏的协调研究中,感觉信息通常是由听觉刺激产生的,在与刺激同时发生的运动周期中,时空变异性会降低,这种现象称为锚定(Byblow et al。1994)。在这里,我们假设锚定的作用可能是在可能会发生全局协调性变化(例如相变)的条件下,全局稳定协调。为了检验该假设,在双向协调范式中研究了锚定,其中在听觉起搏刺激(以及因此运动频率)在很宽的频率范围内缩放时,产生了同相或反相协调。使用了两种不同的锚定条件:单节拍器条件,其中右手指屈曲的峰值幅度与听觉刺激相吻合;双节拍器状态,其中每个手指的扭转(弯曲和伸展)与听觉刺激同时发生。锚定的反向点显示的空间变化要比未锚定的反向点低,从而在双节拍条件下产生的对称相平面轨迹要比单节拍器条件更对称。双节拍器状态的整体协调动力学也更加稳定,与单节拍器状态相比,从反相到同相的转换频率更低,且移动频率更高。简要介绍了Haken-Kelso-Bunz双手协调模型的扩展,其中包括通过我们称为参数稳定化的过程将感官信息与运动进行特定的耦合。参数稳定模型提供了对单个运动轨迹的局部影响(锚定)和观测到的协调模式的整体稳定的理论解释,包括相变的延迟。
  • 【住院的老年人和家庭护理人员对衰老,伤害和虚弱的预后信息的接受性:定性研究。】 复制标题 收藏 收藏
    DOI:10.1016/j.ijnurstu.2020.103602 复制DOI
    作者列表:Maxwell CA,Mixon AS,Conner E,Phillippi JC
    BACKGROUND & AIMS: BACKGROUND:Frailty is the leading prognosticator for poor outcomes and palliative care among older adults. Delivery of negative prognostic information entails potentially difficult conversations about decline and death. OBJECTIVE:The study aims were to: 1) examine hospitalized older adults' and family caregivers' receptivity to general (vs. individualized) prognostic information about frailty, injury, and one-year outcomes; and 2) determine information needs based on prognostic information. DESIGN:Provision of general prognostic information followed by semi-structured interview questions. We deductively analyzed qualitative data within the context of problematic integration theory. SETTING:An academic medical center in the Southeast region of the U.S. PARTICIPANTS:Purposive sampling was utilized to obtain a distribution of patients across the frailty continuum (non-frail [N=10], pre-frail [N=9], frail [9=6]). Twenty-five older adults (≥ age 65) hospitalized for a primary injury (e.g. fall) and 15 family caregivers of hospitalized patients were enrolled. METHODS:Hospitalized older patients and family caregivers were shown prognostic information about one-year outcomes of injured older adults in the form of simple pictographs. Semi-structured interview questions were administered immediately afterwards. The interviews were audio-recorded, transcribed, and analyzed using qualitative content analysis. Demographic and medical information data were used to contextualize the responses during analysis. RESULTS:Overall, participants (patients [56%], caregivers [73%]) were open to receiving prognostic information. A small number of family caregivers (N=3) expressed reservations about the frankness of the information and suggested delivery through a softer approach or not at all. Qualitative data was coded using categories and constructs of problematic integration theory. Four codes (personalizing the evidence, vivid understanding, downhill spiral, realities of aging) reflected probabilistic and evaluative orientation categories of problematic integration theory. One code (fatalism vs. hope) represented manifestations of ambivalence and ambiguity in the theory; and another code (exceptionalism) represented divergence and impossibility. Two codes (role of thought processes, importance of faith) reflected forms of resolutions as described in problematic integration theory. Information needs based on prognostic information revealed four additional codes: give it to me straight, what can I do? what can I expect? and how can I prevent decline? A consistently reported desire of both patients and caregivers was for honesty and hope from providers. CONCLUSION:This study supports the use of general prognostic information in conversations about aging, injury, frailty and patient outcomes. Incorporating prognostic information into communication aids can facilitate shared decision making before end-of-life is imminent.
    背景与目标: 背景:虚弱是老年人不良结局和姑息治疗的主要预后因素。阴性预后信息的传递带来了关于衰退和死亡的潜在困难对话。
    目的:该研究旨在:1)检查住院的老年人和家庭护理人员对虚弱,受伤和一年预后的一般(相对于个体)预后信息的接受度; 2)根据预后信息确定信息需求。
    设计:提供一般预后信息,然后提供半结构化面试问题。我们在问题积分理论的背景下演绎了定性数据。
    地点:美国东南部的学术医学中心
    参与者:采用有针对性的抽样方法来获得整个脆弱连续体的患者分布(非脆弱[N = 10],脆弱前[N = 9],脆弱[9 = 6])。招募了25名因原发性损伤(例如跌倒)住院的老年人(≥65岁),并招募了15名住院患者的家庭看护人。
    方法:以简单的象形文字形式向住院老年患者和家庭护理人员显示有关受伤的成年人一年结局的预后信息。此后立即进行半结构化面试问题。使用定性内容分析对访谈进行录音,转录和分析。人口统计和医学信息数据用于分析期间的响应情况。
    结果:总体而言,参与者(患者[56%],护理人员[73%])愿意接受预后信息。少数家庭护理员(N = 3)对信息的坦率性表示保留,并建议通过更柔和的方法或根本不采用这种方法。使用有问题的整合理论的类别和构造对定性数据进行编码。四个代码(个性化的证据,生动的理解,下坡的螺旋式增长,衰老的现实)反映了问题整合理论的概率和评估方向类别。一种代码(致命主义与希望)代表了理论中模棱两可和模棱两可的表现。另一个法则(例外主义)代表了分歧和不可能。如有问题的整合理论中所述,两个代码(思维过程,信念的重要性)反映了决议的形式。基于预后信息的信息需求显示了四个附加代码:直接给我,我该怎么办?我能期待什么?以及如何防止下降?患者和护理人员一致报告的愿望是提供者的诚实和希望。
    结论:本研究支持在有关衰老,损伤,虚弱和患者预后的对话中使用一般预后信息。将预后信息纳入交流辅助工具可以促进临终前的共同决策。
  • 【使用地理信息系统绘制老年人急诊室的出勤情况,以用于将来的健康计划。】 复制标题 收藏 收藏
    DOI:10.1136/emermed-2018-207952 复制DOI
    作者列表:O'Mahony E,Ní Shé É,Bailey J,Mannan H,McAuliffe E,Ryan J,Cronin J,Cooney MT
    BACKGROUND & AIMS: OBJECTIVES:This study aimed to assess the pattern of use of EDs, factors contributing to the visits, geographical distribution and outcomes in people aged 65 years or older to a large hospital in Dublin. METHODS:A retrospective analysis of 2 years of data from an urban university teaching hospital ED in the southern part of Dublin was reviewed for the period 2014-2015 (n=103 022) to capture the records of attenders. All ED presentations by individuals 65 years and older were extracted for analysis. Address-matched records were analysed using QGIS, a geographic information systems (GIS) analysis and visualisation tool to determine straight-line distances travelled to the ED by age. RESULTS:Of the 49 538 non-duplicate presentations in the main database, 49.9% of the total are women and 49.1% are men. A subset comprised of 40 801 had address-matched records. When mapped, the data showed a distinct clustering of addresses around the hospital site but this clustering shows different patterns based on age cohort. Average distances travelled to ED are shorter for people 65 and older compared with younger patients. Average distances travelled for those aged 65-74 was 21 km (n=4177 presentations); for the age group 75-84, 18 km (n=2518 presentations) and 13 km for those aged 85 and older (n=2104 presentations). This is validated by statistical tests on the clustered data. Self-referral rates of about 60% were recorded for each age group, although this varied slightly, not significantly, with age. CONCLUSIONS:Health planning at a regional level should account for the significant number of older patients attending EDs. The use of GIS for health planning in particular can assist hospitals to improve their understanding of the origin of the cohort of older ED patients.
    背景与目标: 目的:本研究旨在评估在都柏林一家65岁或以上的老年人中,急诊室的使用方式,促成就诊的因素,地理分布和结局。
    方法:对都柏林南部城市大学教学医院ED的2年数据进行回顾性分析,回顾性分析了2014-2015年期间(n = 103 022)的数据,以记录与会者的记录。提取了所有65岁及65岁以上的ED演示文稿进行分析。使用QGIS(一种地理信息系统(GIS)分析和可视化工具)对地址匹配的记录进行了分析,以确定随年龄推移到达ED的直线距离。
    结果:在主数据库中49到538个非重复的展示中,女性占49.9%,男性占49.1%。由40到801组成的子集具有地址匹配的记录。映射后,数据显示医院地点周围的地址存在明显的聚类,但是该聚类显示了基于年龄组的不同模式。与年轻患者相比,65岁及65岁以上老年人到ED的平均距离较短。 65-74岁年龄段的平均旅行距离为21公里(n = 4177次演讲);对于75-84岁年龄段的人群来说,每18千米(n = 2518场)和13千米(85岁及以上的人群(n = 2104场)。这可以通过对聚类数据进行统计测试来验证。每个年龄组的自我推荐率约为60%,尽管随着年龄的增长而变化不大,但变化不大。
    结论:区域一级的健康规划应考虑到参加急诊急诊的老年患者的数量。尤其是在健康计划中使用GIS可以帮助医院提高对老年ED患者队列起源的了解。
  • 【卫生信息交换的状况:六个国家的比较。】 复制标题 收藏 收藏
    DOI:10.7189/jogh.09.020427 复制DOI
    作者列表:Payne TH,Lovis C,Gutteridge C,Pagliari C,Natarajan S,Yong C,Zhao LP
    BACKGROUND & AIMS: Background:Health information exchange (HIE) is frequently cited as an important objective of health information technology investment because of its potential to improve quality, reduce cost, and increase patient satisfaction. In this paper we examine the status and practices of HIE in six countries, drawn from a range of higher and lower income regions. Methods:For each of the countries represented - China, England, India, Scotland, Switzerland, and the United States - we describe the state of current practice of HIE with reference to two scenarios: transfer of care and referral. For each country we discuss national objectives, barriers and plans for further advancing clinical information exchange. Results:The countries vary widely in levels of adoption of EHRs, availability of health information in electronic form suitable for HIE, and in the information technology infrastructure to be used for transmission. Common themes emerged, however, including an expectation that information will be exchanged rather than gathered anew, the need for incentives to promote information exchange, and concerns about data security and patient confidentiality. Conclusions:Although the ability to transfer health information to where it is most needed is nearly always mentioned as an advantage of HIE adoption, there are wide differences in the degree to which this has been achieved to support the scenarios used in this study. Nevertheless, these differences indicate varying stages of progress along a comparable pathway, with similar barriers being identified in the countries described. In some cases, these have been partially surmounted while elsewhere work is needed. We reflect on contextual factors influencing the status and direction of HIE efforts in different global regions and their implications for progress.
    背景与目标: 背景:健康信息交换(HIE)经常被认为是健康信息技术投资的重要目标,因为它具有提高质量,降低成本和提高患者满意度的潜力。在本文中,我们从六个高收入和低收入地区中考察了六个国家中HIE的现状和实践。
    方法:对于代表的每个国家(中国,英格兰,印度,苏格兰,瑞士和美国),我们参考两种情况描述了HIE的当前实践状况:护理转移和转诊。对于每个国家,我们都讨论了进一步推进临床信息交换的国家目标,障碍和计划。
    结果:各国在采用电子病历的水平,适用于HIE的电子形式的健康信息的可获得性以及用于传输的信息技术基础设施方面差异很大。然而,出现了共同的主题,包括期望交换信息而不是重新收集信息,对促进信息交换的激励措施的需求以及对数据安全性和患者机密性的担忧。
    结论:尽管几乎总是提到将健康信息传输到最需要的地方的能力,这是采用HIE的优势,但在支持本研究中所用方案的程度上却存在很大差异。然而,这些差异表明,在可比的道路上,进展阶段各不相同,在上述国家中也发现了类似的障碍。在某些情况下,这些已被部分覆盖,而其他地方则需要进行工作。我们思考影响全球不同地区HIE努力的状态和方向的背景因素及其对进展的影响。
  • 【有效危机管理的挑战:使用信息和通信技术来协调紧急医疗服务和急诊团队。】 复制标题 收藏 收藏
    DOI:10.1016/j.ijmedinf.2008.08.003 复制DOI
    作者列表:Reddy MC,Paul SA,Abraham J,McNeese M,DeFlitch C,Yen J
    BACKGROUND & AIMS: OBJECTIVE:The purpose of this study is to identify the major challenges to coordination between emergency department (ED) teams and emergency medical services (EMS) teams. DESIGN:We conducted a series of focus groups involving both ED and EMS team members using a crisis scenario as the basis of the focus group discussion. We also collected organizational workflow data. RESULTS:We identified three major challenges to coordination between ED and EMS teams including ineffectiveness of current information and communication technologies, lack of common ground, and breakdowns in information flow. DISCUSSION:The three challenges highlight the importance of designing systems from socio-technical perspective. In particular, these inter-team coordination systems must support socio-technical issues such as awareness, context, and workflow between the two teams.
    背景与目标: 目的:本研究的目的是确定急诊科(ED)团队与急诊医疗服务(EMS)团队之间协调的主要挑战。
    设计:我们以危机情景为焦点小组讨论的基础,进行了包括ED和EMS团队成员在内的一系列焦点小组讨论。我们还收集了组织工作流数据。
    结果:我们确定了ED和EMS团队之间的协调面临的三个主要挑战,包括当前信息和通信技术的无效性,缺乏共同点以及信息流崩溃。
    讨论:这三个挑战从社会技术的角度突出了设计系统的重要性。特别是,这些团队间的协调系统必须支持社会技术问题,例如两个团队之间的意识,环境和工作流程。
  • 【有先天性心脏缺陷的青少年:患者和父母对遗传信息和遗传风险的看法。】 复制标题 收藏 收藏
    DOI:10.1017/S1047951119002646 复制DOI
    作者列表:Crawford CA,Vujakovich CE,Elmore L,Fleming E,Landis BJ,Spoonamore KG,Ware SM
    BACKGROUND & AIMS: :Congenital heart defects (CHDs) occur in 8 of 1000 live-born children, making them common birth defects in the adolescent population. CHDs may have single gene, chromosomal, or multifactorial causes. Despite evidence that patients with CHD want information on heritability and genetics, no studies have investigated the interest or knowledge base in the adolescent population. This information is necessary as patients in adolescence take greater ownership of their health care and discuss reproductive risks with their physicians. The objectives of this survey-based study were to determine adolescents' recall of their own heart condition, to assess patient and parent perception of the genetic contribution to the adolescent's CHD, and to obtain information about the preferred method(s) for education. The results show that adolescent patients had good recall of their type of CHD. Less than half of adolescents and parents believed their CHD had a genetic basis or was heritable; however, adolescents with a positive family history of CHD were more likely to believe that their condition was genetic (p = 0.0005). The majority of patients were interested in receiving additional genetics education and preferred education in-person and in consultation with both parents and a physician. The adolescents who felt most competent to have discussions with their doctors regarding potential causes of their heart defect previously had a school science course which covered topics in genetics. These results provide insight into adolescents' perceptions and understanding about their CHD and genetic risk and may inform the creation and provision of additional genetic education.
    背景与目标: :先天性心脏缺陷(CHD)发生在1000个活产儿中的8个中,使其成为青少年人群中常见的先天性缺陷。 CHD可能具有单一基因,染色体或多因素原因。尽管有证据表明冠心病患者希望获得遗传性和遗传学方面的信息,但尚无研究调查青少年人群的兴趣或知识库。由于青春期患者对医疗保健拥有更大的所有权并与医生讨论生殖风险,因此此信息是必要的。这项基于调查的研究的目的是确定青少年对自身心脏病的回忆,评估患者和父母对遗传因素对青少年冠心病的认知,并获得有关首选教育方法的信息。结果表明,青春期患者对CHD类型的记忆良好。不到一半的青少年和父母认为他们的冠心病具有遗传基础或可遗传。然而,患有冠心病家族史的青少年更有可能认为他们的病情是遗传性的(p = 0.0005)。大多数患者有兴趣接受额外的遗传学教育和当面首选的教育,并与父母和医师会诊。那些最有能力与他们的医生就其心脏缺陷的潜在原因进行讨论的青少年,以前曾参加过学校科学课程,内容涉及遗传学主题。这些结果提供了对青少年对冠心病和遗传风险的看法和理解的洞察力,并可能为创建和提供额外的遗传教育提供信息。
  • 【应对未来:信息系统设计中试点实施的混乱。】 复制标题 收藏 收藏
    DOI:10.1177/1460458217712058 复制DOI
    作者列表:Hertzum M,Manikas MI,Á Torkilsheyggi A
    BACKGROUND & AIMS: :Pilot implementation is a method for avoiding unintended consequences of healthcare information systems. This study investigates how learning from pilot implementations is situated, messy, and therefore difficult. We analyze two pilot implementations by means of observation and interviews. In the first pilot implementation, the involved porters saw their improved overview of pending patient transports as an opportunity for more self-organization, but this opportunity hinged on the unclear prospects of extending the system with functionality for the porters to reply to transport requests. In the second pilot implementation, the involved paramedics had to print the data they had entered into the system because it had not yet been integrated with the electronic patient record. This extra work prolonged every dispatch and influenced the paramedics' experience of the entire system. We discuss how pilot implementations, in spite of their realism, leave room for uncertainty about the implications of the new system.
    背景与目标: :试点实施是一种避免医疗保健信息系统意外后果的方法。这项研究调查了如何从试点实施中学习,定位,凌乱并因此而困难。我们通过观察和访谈的方式分析了两个试点实施方案。在第一个试点实施中,参与的搬运工将他们对待处理患者运输的总体了解提高为更多自我组织的机会,但是这种机会取决于对系统进行扩展以使搬运工能够响应运输请求的功能的不明确前景。在第二个试点实施中,所涉及的护理人员必须打印他们输入到系统中的数据,因为该数据尚未与电子病历集成在一起。这项额外的工作延长了每次派遣的时间,并影响了整个系统的护理人员的经验。我们将讨论试点实施方案,尽管其具有现实性,但如何为新系统的含义带来不确定性。
  • 【[与巴西死亡率信息系统中的工作质量事故记录相关的因素]。】 复制标题 收藏 收藏
    DOI:10.1590/0102-311X00218318 复制DOI
    作者列表:Galdino A,Santana VS,Ferrite S
    BACKGROUND & AIMS: :This study aimed to identify factors associated with the quality of fatal work accident records in the Brazilian Mortality Information System in individuals 18 to 65 years of age from 1998 to 2013. The quality of the record of possible causal relationship between accidents and the work , a field that appears on death certificates and is exclusive to accidents among external causes, was analyzed with two variables: (1) record "ignored" (R-IGN, yes/no); (2) missing or inconsistent records (R-AUS, yes/no). A total of 665,531 deaths were located, of which 67.7% of the records showed poor quality. Factors associated with record "ignored" were: male sex; white skin color; schooling less than university; non-blue-collar workers or non-farmers; death certificate issued by the Forensic Medical Office (IML); Southeast and Northeast regions of the country; and death in hospital. Missing or inconsistent records were associated with: age greater than 34 years; non-white skin color; no schooling; all regions of Brazil except the Southeast; death in hospital or at home; police report as the source of information; and death certificate issued by the IML. The factors independently associated with poor quality of completion of the field included individual dimensions, source issuing the death certificate, place of death, and geographic variables. The findings reveal the need to improve the quality of death records in hospitals, the IML, and police reports, besides training and supervising teams throughout Brazil. :Este estudo teve como objetivo identificar fatores associados à qualidade do registro de acidentes de trabalho fatais no Sistema de Informações sobre Mortalidade (SIM), ocorridos com pessoas de 18 a 65 anos, entre 1998 e 2013, no Brasil. A qualidade do registro da possível relação causal de acidentes com o trabalho , campo existente em declarações de óbitos, exclusivo para acidentes dentre as causas externas, foi analisada com duas variáveis: (1) registro “ignorado” (R-IGN, sim/não); (2) registros ausentes ou inconsistentes (R-AUS, sim/não). Foram encontrados 665.531 óbitos dentre os quais 67,7% dos registros de eram de má qualidade. Fatores associados a registro “ignorado” foram: sexo masculino; cor da pele branca; escolaridade menor que a superior; não operários ou não agricultores; atestante Instituto Médico Legal (IML); regiões Sudeste e Nordeste; e óbito em hospital. Registros ausentes ou inconsistentes se associaram: à idade acima de 34 anos; à cor da pele não branca; a sem escolaridade; a todas as regiões, exceto à Sudeste; a óbito em hospital ou no domicílio; a boletim de ocorrência como fonte; e a atestante IML. Esses fatores, independentemente associados à má qualidade de preenchimento do campo , compreendiam dimensões individuais, da fonte de emissão, do local do óbito e geográficas. Isso revela a necessidade de melhoria da qualidade de declarações de óbito em hospitais, IML e boletins de ocorrência, treinando e supervisionando equipes em todo o Brasil. :El objetivo de este estudio fue identificar factores asociados a la calidad del registro de accidentes de trabajo fatales en el Sistema de Información sobre Mortalidad (SIM), ocurridos con personas de 18 a 65 años, entre 1998 y 2013, en Brasil. La calidad del registro de la posible relación causal de accidentes con el trabajo , campo existente en las declaraciones de fallecimiento, exclusivo para accidentes entre las causas externas, se analizó con dos variables: (1) registro “ignorado” (R-IGN, sí/no); (2) registros ausentes o inconsistentes (R-AUS, sí/no). Se encontraron 665.531 óbitos entre los cuales un 67,7% de los registros de eran de mala calidad. Los factores asociados al registro “ignorado” fueron: sexo masculino; color de piel blanco; escolaridad menor que la superior; no obreros o no agricultores; con atestado del Instituto Médico Legal (IML); región sudeste y nordeste; y fallecimiento en hospital. Los registros ausentes o inconsistentes se asociaron a: edad por encima de 34 años; color de piel no blanca; sin escolaridad; todas las regiones, excepto la sudeste; fallecimiento en hospital o en el domicilio; boletín de ocurrencia como fuente; y con atestado IML. Estos factores independientemente asociados a la mala calidad en la cumplimentación del campo incluían dimensiones individuales, de la fuente de emisión, del lugar del fallecimiento y geográficas. Esto revela la necesidad de mejora en la calidad de las declaraciones de óbito en hospitales, IML y boletines de ocurrencia, entrenando y supervisando equipos en todo Brasil.
    背景与目标: :这项研究旨在确定与1998年至2013年间18至65岁的巴西人死亡信息系统中的致命工作事故记录质量有关的因素。事故与工作之间可能因果关系的记录质量< acidtrab>是出现在死亡证明上的字段,是外部原因导致的事故专有的字段,已通过两个变量进行了分析:(1)记录“忽略”(R-IGN,是/否); (2)记录缺失或不一致(R-AUS,是/否)。总共发现了665,531人死亡,其中记录中有67.7%的质量较差。与记录“被忽略”相关的因素是:男性;皮肤色白;上大学少于上学;非蓝领工人或非农民;法医办公室(IML)颁发的死亡证明;该国的东南和东北地区;和医院死亡。丢失或不一致的记录与以下因素有关:年龄大于34岁;非白色肤色;没有上学;除东南部外,巴西所有其他地区;在医院或家中死亡;警察报告作为信息来源;和由IML颁发的死亡证明。与田地完工质量差相关的独立因素包括个人规模,签发死亡证明的来源,死亡地点和地理变量。调查结果表明,除了在巴西各地的培训和监督小组外,还需要改善医院,IML和警察报告中的死亡记录质量。
    :Este estudo teve como objetivo具有同等资格的法人资格,所以,Sorsema deInformaçõessobre Mortalidade(SIM),ocorridos com pespesasas de an an an an an an an an an an an an do an do a 1998 de 2013。合格的因果关系的资格证明书,,因应法律的要求而作废,由于酸味的排他性,因应法律效力,所以:(-IG(1) sim /não); (2)注册人或注册人不一致(R-AUS,sim /não)。 665.531眼的孔雀眼67.7%的酸度为dos registros de 。 Fatores associados注册了一个“ ignorado”论坛:sexo masculino;科尔达佩莱布兰卡; escolaridade menor que上级;农业;农业;农业墨西哥法律学会(IML);注册Sudeste e Nordeste;医院。登记处或登记处之间的关系不一致:àidade acima de 34 anos; àcor da pelenãobranca;一学期的特别宴会;礼节,苏德斯特节;一家没有住所的医院; boletim deocorrênciacomo fonte; e Atestante IML。埃斯·法托雷斯(Esses fatores),独立营地商协会(acidaccb),独立人士,大字体商,地方地理协会。医院是必不可少的医院设施,IML和牛肝菌必不可少,监督和装备巴西的设施是必不可少的。
    :在事故发生时因事故原因而被判刑的公证人协会(SIM),在18个月至65个月间发生的人身事故发生在巴西,发生在1998年,2013年,巴西。发生事故的因果关系登记簿,《酸事故》,因果证明存在,因果关系除外,变量:(1)“ ignorado”(“ ignorado”(“ ignorado”) IGN,sí/ no); (2)注册人不一致或不一致(R-AUS,sí/ no)。配气量665.531从67.7%下降到酸度。损失因素登记簿“ ignorado” fueron:sexo masculino;皮埃尔·布兰科escolaridad menor que la Superior;没有杂乱无章的农业;墨西哥法律研究所(IML);北部和北部地区您在fallecimiento的医院。修订本:a edad por encima de 34años;皮埃尔·布兰卡色罪恶escolaridad;除苏德斯特外,托斯拉斯地区;联邦医院法医中心; Boletínde ocurrencia como fuente; y con atestado IML。独立的因果关系和因果关系而定的集体诉讼法,包括个人,德丰西省,卢加尔省,法属省和地方法院。巴西的Esto revela la mecesa la laclaridad de Lasclaraciones,IML和Boletines de Ocurrencia,Entrenando y Supervisando equipos en Todo Brasil。
  • 【根据接收者的角色,儿童的选择性信息共享。】 复制标题 收藏 收藏
    DOI:10.1080/00221325.2020.1712319 复制DOI
    作者列表:Danovitch JH
    BACKGROUND & AIMS: :Two experiments investigate whether children ages 5 through 10 (n = 121) take into account an individual's role when choosing what information to share or with whom to share it. In Experiment 1, children heard statements about an unfamiliar animal's behavior and appearance. They then chose one statement to share with each of two characters with different job descriptions. Seven-year-olds consistently shared the information that aligned with each character's role, but 5-year-olds and a subset of 9-year-olds did not. Experiment 2 showed that children's decisions about what to share were not driven by their personal preferences for the information they were sharing. In addition, when children were provided with a single fact and had to choose with whom to share it, 7- and 9-year-olds shared information with the recipient for whom it was most relevant. Together, the findings suggest that by age 7, children can use information about an individual's occupational role in order to infer what information to share.
    背景与目标: :两个实验调查了5岁至10岁(n = 121)的儿童在选择共享哪些信息或与谁共享信息时是否考虑了个人的角色。在实验1中,孩子们听到了关于不熟悉的动物的行为和外表的陈述。然后,他们选择了一条陈述,以与两个具有不同职务说明的角色共享。 7岁的孩子始终共享与每个角色的角色相关的信息,但5岁的孩子和9岁的孩子却没有。实验2表明,孩子对共享内容的决定不是由他们对共享信息的个人偏好所驱动。此外,当为孩子提供一个事实并不得不选择与谁共享时,7岁和9岁的孩子会与与之最相关的接收者共享信息。这些发现共同表明,到7岁时,儿童可以使用有关个人职业角色的信息,以便推断出可以共享的信息。
  • 【通过信息细化进行代谢网络分类和知识发现。】 复制标题 收藏 收藏
    DOI:10.1016/j.compbiolchem.2019.107187 复制DOI
    作者列表:Martino A,Giuliani A,Todde V,Bizzarri M,Rizzi A
    BACKGROUND & AIMS: :Graphs are powerful structures able to capture topological and semantic information from data, hence suitable for modelling a plethora of real-world (complex) systems. For this reason, graph-based pattern recognition gained a lot of attention in recent years. In this paper, a general-purpose classification system in the graphs domain is presented. When most of the information of the available patterns can be encoded in edge labels, an information granulation-based approach is highly discriminant and allows for the identification of semantically meaningful edges. The proposed classification system has been tested on the entire set of organisms (5299) for which metabolic networks are known, allowing for both a perfect mirroring of the underlying taxonomy and the identification of most discriminant metabolic reactions and pathways. The widespread diffusion of graph (network) structures in biology makes the proposed pattern recognition approach potentially very useful in many different fields of application. More specifically, the possibility to have a reliable metric to compare different metabolic systems is instrumental in emerging fields like microbiome analysis and, more in general, for proposing metabolic networks as a universal phenotype spanning the entire tree of life and in direct contact with environmental cues.
    背景与目标: :Graphs是强大的结构,能够从数据中捕获拓扑和语义信息,因此适合于对大量现实世界(复杂)系统进行建模。因此,近年来,基于图形的模式识别备受关注。本文提出了一种图形领域的通用分类系统。当可用模式的大多数信息都可以在边缘标签中编码时,基于信息粒度的方法就具有很高的判别力,并且可以识别语义上有意义的边缘。拟议的分类系统已在已知代谢网络的整个有机体(5299)上进行了测试,既可以完美地反映基础分类学,又可以识别大多数判别性代谢反应和途径。图(网络)结构在生物学中的广泛传播使所提出的模式识别方法在许多不同的应用领域中非常有用。更具体地说,在微生物组分析等新兴领域,拥有可靠的度量标准来比较不同代谢系统的可能性非常重要,并且更广泛地说,对于将代谢网络作为跨越整个生命树并与环境线索直接接触的通用表型提出建议。
  • 【Dandy-Walker变体的一个案例:使用互补技术来获取准确诊断信息的多学科团队方法的重要性。】 复制标题 收藏 收藏
    DOI:10.1259/bjr/77399621 复制DOI
    作者列表:Lavanya T,Cohen M,Gandhi SV,Farrell T,Whitby EH
    BACKGROUND & AIMS: :Dandy-Walker malformation is a rare abnormality of the central nervous system (CNS) with a reported incidence of 1 in 25,00-35,00 live births and a slight female predominance. It accounts for 1-4% of cases of antenatally detected hydrocephalus. Dandy Walker variant forms part of the spectrum of Dandy Walker malformation. It is characterized by partial agenesis of the vermis, resulting in communication between the fourth ventricle and the cisterna magna. Dandy Walker malformation demonstrates an enlarged posterior fossa, with high insertion of the torcula herophili, as well as other features. In the diagnostic workup, ultrasound is reliable and accurate for making the diagnosis. In utero, fetal MRI can be used to confirm the diagnosis and also to identify any associated abnormalities. In cases of termination of pregnancy, autopsy will offer the diagnosis and provide additional information to assess the risk for future pregnancies and to help in counselling the parents. Autopsy is considered the gold standard for accurate diagnosis of the fetal abnormality. We report the unexpected finding of complete absence of the cerebellum due to maceration at autopsy, even though it was clearly demonstrated (but abnormal) on the antenatal ultrasound scan and MRI, as well as on post-mortem MRI. To the best of our knowledge, this has not been reported previously. Our case demonstrates the relevance of MRI when approaching a post-mortem examination with CNS malformation, and indicates that the "gold standard" might not always be autopsy.
    背景与目标: :Dandy-Walker畸形是中枢神经系统(CNS)的罕见异常,据报道25,00-35,00例活产中有1例发生,女性占少数。它占产前检测到的脑积水病例的1-4%。 Dandy Walker变体构成了Dandy Walker畸形谱的一部分。它的特征是the部的部分发育不全,导致第四脑室和大水罐之间的连通。丹迪·沃克畸形表现为后颅窝扩大,伴有肥大的托氏菌插入,以及其他特征。在诊断过程中,超声波对于进行诊断是可靠且准确的。在子宫内,胎儿MRI可用于确认诊断并识别任何相关异常。在终止妊娠的情况下,尸检将提供诊断并提供其他信息,以评估未来怀孕的风险并帮助为父母提供咨询。尸检被认为是准确诊断胎儿异常的金标准。我们报告了出乎意料的发现,即尸体解剖中的浸渍完全导致了小脑的完全不存在,即使在产前超声扫描和MRI以及验尸MRI上已明确证实(但异常)。据我们所知,以前尚未对此进行报告。我们的病例证明了进行CNS畸形的验尸检查时MRI的相关性,并表明“黄金标准”可能并不总是尸检。

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