A deep vein thrombosis caused by 20209C>T mutation in homozygosis of the prothrombin gene in a Caucasian patient     

Silvia Izquierdo álvarez  Eva Barrio Ollero  Francisco Miguel Llinares Sanjuan  Fabiola Lorente Martínez  María Teresa Calvo Martín 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2014,24(1):159-166

Introduction:

Additional nucleotide substitutions in the 3′-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient.

Case and methods:

The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after immobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be determined using the PTH-FV-MTHFR StripAssay (Vienna Lab).

Results:

Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip.

Conclusion:

The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the patient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.  相似文献   

Telesio and celestial novelties     

Luís Miguel Carolino 《Endeavour》2013

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US higher education in a budgetary vortex��1992�C2007: tracing the positioning of academe in the context of growing inequality     

Miguel de Oliver  Felecia M. Briscoe 《Higher Education》2011,62(5):607-618

Through comparative statistical data of public investment trends in higher education, the institution of higher education in the US is contemporarily contextualized within the growing milieu of disparity. Specifically, this study focuses on the period from 1992 to 2007 to see if a mitigation of the growing economic disparity projected per the Kuznets curve was reflected in the prioritization of higher education support needed to preserve the social mobility of the workforce. Through the analysis of higher educational expenditure within the budgetary priorities of the 50 states from 1992 to roughly the present, this paper reveals that, in absolute terms or by disproportional emphasis, the institutional repositioning of higher education necessary for a Kuznets curve readjustment of disparity has not occurred.  相似文献   

Forensic child sexual abuse evaluations: assessing subjectivity and bias in professional judgements     

Everson MD  Sandoval JM 《Child abuse & neglect》2011,35(4):287-298

Objectives

Evaluators examining the same evidence often arrive at substantially different conclusions in forensic assessments of child sexual abuse (CSA). This study attempts to identify and quantify subjective factors that contribute to such disagreements so that interventions can be devised to improve the reliability of case decisions.

Methods

Participants included 1106 professionals in the field of child maltreatment representing a range of professional positions or job titles and years of experience. Each completed the Child Forensic Attitude Scale (CFAS), a 28-item survey assessing 3 forensic attitudes believed to influence professional judgments about CSA allegations: emphasis-on-sensitivity (i.e., a focus on minimizing false negatives or errors of undercalling abuse); emphasis-on-specificity (i.e., a focus on minimizing false positives or errors of overcalling abuse); and skepticism toward child and adolescent reports of CSA. A subset of 605 professionals also participated in 1 of 3 diverse decision exercises to assess the influence of the 3 forensic attitudes on ratings of case credibility.

Results

Exploratory factor analysis identified 4 factors or attitude subscales that corresponded closely with the original CFAS scales: 2 subscales for emphasis-on-sensitivity and 1 each for emphasis-on-specificity and skepticism. Attitude subscale scores differed significantly by sample source (in-state trainings vs. national conferences), gender, years of experience, and professional position, with Child Protective Service workers unexpectedly more concerned about overcalling abuse and more skeptical of child disclosures than other professionals—a pattern of scores associated with an increased probability of disbelieving CSA allegations. The 3 decision exercises offered validation of the attitude subscales as predictors of professional ratings of case credibility, with adjusted R²s for the three exercises ranging from .06 to .24, suggesting highly variable effect sizes.

Conclusions

Evaluator disagreements about CSA allegations can be explained, in part, by individual differences in 3 attitudes related to forensic decision-making: emphasis-on-sensitivity, emphasis-on-specificity, and skepticism toward child reports of abuse. These attitudes operate as predispositions or biases toward viewing CSA allegations as likely true or likely false. Several strategies for curbing the influence of subjective factors are highlighted including self-awareness of personal biases and team approaches to assessment.  相似文献   

Resilience does not predict academic performance in gross anatomy     

Rodrigo Enrique Elizondo‐Omaña  María de los Angeles García‐Rodríguez  José Miguel Hinojosa‐Amaya  Eliud Enrique Villarreal‐Silva  Rosa Ivette Guzmán Avilan  Juan José Bazaldúa Cruz  Santos Guzmán‐López 《Anatomical sciences education》2011,4(1):56-56

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面向中华古籍阅读推广与文化传播的VR系统模型构建与实现     

张宁  Miguel Baptista Nunes  李俊炀  张伟波 《图书情报工作》2021,65(13):12-24

[目的/意义] 旨在借助VR媒介技术,克服或弱化普通读者在古籍阅读中存在的古籍获取不便和古汉语理解、专业知识、特定文化背景知识、阅读动力不足的问题,促进古籍阅读推广与文化传播。[方法/过程] 利用文献调研方法分析梳理认知科学和教育技术领域相关理论,提出VR古籍系统设计原则与模型,基于单个案例分析,设计、开发、测试系统原型,最后利用实验方法以问卷方式收集评估数据,验证设计原则、模型的有用性。[结果/结论] 研究成果包括VR古籍系统设计原则、VR古籍系统理论模型、首例VR古籍系统应用原型、VR古籍系统使用理论,可为后续从事VR古籍系统研究与设计的科研人员和设计人员借鉴使用。  相似文献   

An evolving Learning Management System for new educational environments using 2.0 tools     

Miguel Á. Conde  Francisco J. García-Peñalvo  María J. Rodríguez-Conde  Marc Alier  María J. Casany  Jordi Piguillem 《Interactive Learning Environments》2014,22(2):188-204

The tools used in learning processes are in a continuous state of flux. One of the most significant changes is the application of Information and Communications technologies (ICTs) to educational contexts. This provides new possible ways to carry out learning activities, new learning services, the possibility to use new kinds of contents and activities, etc. However, ICTs have not provided as many advantages as they were supposed to, so changes are necessary. In this context, a new set of tools, Web 2.0, offers a new way to understand the Web, in which the user is the centre. Further, users can cooperate in order to define contents. This concept is also applied in technology-mediated learning but there are important problems when one tries to integrate such tools and concepts with existing systems. This paper explores the integration of these tools in traditional learning environments, the various possibilities and their advantages and drawbacks. After that, an interoperability scenario is described and two experiences are presented to show how 2.0 tools can be integrated in learning activities, and its effect in educational process.  相似文献   

Developing an audiovisual notebook as a self‐learning tool in histology: Perceptions of teachers and students          下载免费PDF全文

Antonio Campos‐Sánchez  Juan‐Antonio López‐Núñez  Giuseppe Scionti  Ingrid Garzón  Miguel González‐Andrades  Miguel Alaminos  Tomás Sola 《Anatomical sciences education》2014,7(3):209-218

Videos can be used as didactic tools for self‐learning under several circumstances, including those cases in which students are responsible for the development of this resource as an audiovisual notebook. We compared students' and teachers' perceptions regarding the main features that an audiovisual notebook should include. Four questionnaires with items about information, images, text and music, and filmmaking were used to investigate students' (n = 115) and teachers' perceptions (n = 28) regarding the development of a video focused on a histological technique. The results show that both students and teachers significantly prioritize informative components, images and filmmaking more than text and music. The scores were significantly higher for teachers than for students for all four components analyzed. The highest scores were given to items related to practical and medically oriented elements, and the lowest values were given to theoretical and complementary elements. For most items, there were no differences between genders. A strong positive correlation was found between the scores given to each item by teachers and students. These results show that both students' and teachers' perceptions tend to coincide for most items, and suggest that audiovisual notebooks developed by students would emphasize the same items as those perceived by teachers to be the most relevant. Further, these findings suggest that the use of video as an audiovisual learning notebook would not only preserve the curricular objectives but would also offer the advantages of self‐learning processes. Anat Sci Educ 7: 209–218. © 2013 American Association of Anatomists.  相似文献   

Active relatives and health-related physical fitness in European adolescents: The HELENA Study     

M Martín-Matillas  FB Ortega  JR Ruiz  D Martínez-Gómez  G Vicente-Rodríguez  A Marcos  L Béghin  A Kafatos  M González-Gross  M Zaccaria  D Molnár  S De Henauw  M Sjöström  LA Moreno  MJ Castillo On Behalf Of The Helena Study 《Journal of sports sciences》2012,30(13):1329-1335

Abstract High physical fitness in childhood and adolescence is positively associated with favourable health-related outcomes. Our aim was to examine the relationship between relatives' (father, mother, brother, sister, and best friend) physical activity engagement and encouragement on adolescents' physical fitness. Adolescents were part of the HELENA study, a multi-centre study conducted in 10 cities from nine European countries in 2006-2008. Participants were 3288 adolescents (48% boys, 52% girls) aged 12.5-17.5 years with valid data on at least one of the three fitness variables studied: muscular strength (standing long jump), speed/agility (4×10 m shuttle run), and cardiorespiratory fitness (20 m shuttle run). The adolescents reported their relatives' physical activity engagement and encouragement. Analysis of covariance showed that relatives' physical activity engagement (father, mother, brother, and best friend) was positively related to cardiorespiratory fitness (P?相似文献   

The impact of national research funds: A regression discontinuity approach to the Chilean FONDECYT     

José Miguel Benavente  Alessandro Maffioli 《Research Policy》2012,41(8):1461-1475

This paper analyses the role of national research funds in promoting scientific production in emerging economies. The study focuses on the impact of the Chilean National Science and Technology Research Fund (FONDECYT). The analysis uses data drawn from international sources of bibliometric information combined with the administrative records of the program's executing unit. To measure the program's impact, we implement a regression discontinuity (RD) design on principal researchers who applied for funding between 1988 and 1997 considering as outcomes both quantity (publications up to 2002) and quality (citations up to 2005) of their scientific production. Our results show significant and positive impact in terms of publications, but no impact in terms of quality of scientific production in the proximity of the program's threshold ranking.  相似文献