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排序方式: 共有468条查询结果,搜索用时 15 毫秒
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Karly Hampshire Pierre‐Marie Martin Colleen Carlston Anne Slavotinek 《American journal of medical genetics. Part A》2020,182(8):1923-1932
Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family. 相似文献
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Kermit Zhang Eleina Cox Samuel Strom Zhuo Luan Xu Alexis Disilvestro Kelly Usrey 《American journal of medical genetics. Part A》2020,182(9):2124-2128
Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF. 相似文献
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北京申办2008奥运会,提出了要办人文奥运、绿色奥运、科技奥运,把人文奥运作为申办奥运的基本理念。体育作为一种人类活动现象,也是人类的一种文化现象,它本身包涵着深厚的人文内涵。因此,揭示和阐述体育的人文内涵,是一项有现实意义的课题,它有助于加深对“人文奥运”的理解,有助于全面认识人类体育活动。 相似文献
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A dependent group contingency strategy called Fair Play Game was applied to promote increase in number of steps during physical education classes for sixth-grade students. Results from a multiple baseline design across three classes showed that the mean number of steps for baseline vs. intervention were: Class 1: 43 vs. 64 steps/minute; Class 2: 49 vs. 81 steps/minute; Class 3: 50 vs. 87 steps/minute. Visual inspection of the graphs showed that Class 1 had an upward trend of number of steps (baseline vs. intervention) without a change in level. Classes 2 and 3 demonstrated clearer change in level of number of steps between these two phases. Social validity data showed that students increased their engagement in class and Fair Play Game is a feasible and acceptable strategy. Therefore, it can be concluded that Fair Play Game appeared to be associated with students' increase in active behaviours in physical education lessons. 相似文献
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《The Physician and sportsmedicine》2012,40(4):365-374
ABSTRACTObjectives: The present review provides a summary of basketball referees’ game activities, fitness assessment, cognitive function, and energy expenditure (EE) during official games.Methods: Analyzing the literature on basketball referees. Literature review conducted using Pub Med, WOK, SCOPUS, and Google Scholar, with search criteria including the terms ‘referees’, ‘game officials’, ‘basketball’ and performance terms such as ‘physiological’, ‘physical demands’, ‘decision-making’, and ‘mental fatigue’.Results: the relevant studies (n = 19) showed that referees cover ~5000 m during a game with mean heart rates (HR) of ~140 beats.min?1 (>75% HRmax) and oxygen uptake (VO2) of ~52 ml.min?1.kg?1 (~86.19% VO2max). The YO-YO intermittent recovery test level 1 (YO-YO-IRT1) performance has revealed a direct validity to assess the intermittent aerobic activity as it was correlated to the on-field activity of the referees. The estimated referees' EE during a game exceeds 500 kcal (~5 kcal.kg-1.h?1). The threshold of low intensity and high intensity could be considered as lower than 3.8 METs and higher than 9.8 METs, respectively. The physical abilities of referees decrease gradually with the chronological age. However, older referees (>32 years old) have a significantly better quality of officiating than young referees. The perceptual-cognitive demands of basketball refereeing are also discussed in the present review.Conclusion: Basketball referees’ game-analysis showed an intermittent activity (~1:12 ratio of high-intensity effort/recovery). The YO-YO-IRT1 could be used as a specific fitness test to estimate their aerobic capacity. The referees’ EE showed a “moderate energy intensity“ when expressed by the metabolic equivalent (~5 METs). A specific training program should be prescribed for the referees, taking into consideration their age. The cognitive processes influencing basketball referees’ decisions should be studied in further researches. 相似文献
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ABSTRACT The goal of the present study was to achieve a better understanding of the experience of playing with slip and the ways in which participants experience the Clay Slip Game and how they perceive the therapeutic qualities of the material, thus including the potential for art therapists to add the Slip Game to their toolbox. Ten experienced qualified art therapists and 48 art therapy students took part. All participants engaged in the Slip Game during the study and reported their experiences in an interview (therapists) or in written personal reflections (students). Data analysis adhered to the principles of Grounded Theory [Charmaz (2006). Constructing grounded theory: A practical guide through qualitative analysis. London: Sage Publications]. The findings indicate that the experience of the Slip Game is mainly a sensory (tactile), playful, pleasant and calming experience of making without the need to produce an end product. The experience is more internal (meditative) and stimulates feelings of regression. The therapeutic qualities of the material, as discussed by the participants, are related to the regressive and sublimative processes afforded by the material, and as a material that enables sensory, behavioural, emotional, and motor regulation. Plain-language summary Art therapy is a type of psychotherapy that uses artistic materials and creative processes in the therapeutic process. Since art materials are the primary tools through which the art therapy processes occur, therapists need to have an in-depth understanding of the art materials they offer to their clients [Moon (2010). Materials & media in art therapy: Critical understandings of diverse artistic vocabularies. New York, NY: Routledge]. Slip is a mixture of water with an additional substance that produces a thick and saline-type paste [De Montmollin (2010). The barbotine game-challenge of creativity. Antwerpen.]. It can be made by diluting and filtering any kind of clay to make it semi-fluid. Playing with slip as a distinct and separate technique was defined as a ‘game’ by Daniel De Montmollin, a ceramicist. De Montmollin created the Slip Game as a way to help people free themselves from internal and external censorship or criticism. The goal of this study was to understand the participants’ experience of the Slip Game and whether they found the process therapeutic. Forty-eight art therapy students and 10 art therapists took part in the study. After engaging in the Slip Game, the art therapists reported their experiences in an interview and the students wrote personal reflections. These were then analysed using Grounded Theory. The findings show that the participants experienced the Slip Game as mainly sensory and reported it was pleasant, calming, playful and tactile, a way of ‘making’ without the need to produce an end product. They also found the experience to be meditative, that it stimulated feelings of regression and felt that engaging with slip also improved behaviour, emotional control and fine hand-movement skills. 相似文献
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The purpose of this review is to familiarize readers with the role that addiction plays in the formation and treatment of obesity, type 2 diabetes and disorders of eating. We will outline several useful models that integrate metabolism, addiction, and human relationship adaptations to eating. A special effort will be made to demonstrate how the use of simple and straightforward nonlinear models can and are being used to improve our knowledge and treatment of patients suffering from nutritional pathology. Moving forward, the reader should be able to incorporate some of the findings in this review into their own practice, research, teaching efforts or other interests in the fields of nutrition, diabetes, and/or bariatric (weight) management. 相似文献