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1.

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   
2.
Research in Science Education - The aim of this paper is to show how an innovative technique can be used to introduce a method for uncovering intrinsic mechanisms that motivate changes in...  相似文献   
3.
The aim of this paper is to describe the design of chemical engineering laboratory sessions in order to focus them on the learning company approach. This is an activity carried out in the classroom similar to the activities that exist in real companies. This could lead classroom practice to a more cooperative learning and a different style of experimentation. The stated goal is to make a design that seeks to motivate students in a cooperative manner to perform their experiments self-directed and self-organised. The teaching organisation and development of participatory action research are described.  相似文献   
4.
The biological processes of photosynthesis and plant cellular respiration include multiple biochemical steps, occur simultaneously within plant cells, and share common molecular components. Yet, learners often compartmentalize functions and specialization of cell organelles relevant to these two processes, without considering the interconnections as well as the significance of the plant as an independent biological system functioning as a nested component within local and global ecosystems. Understanding connections among biological systems at macro and micro levels is important to biological literacy. This study examined preservice elementary teachers' conceptions of photosynthesis and plant cellular respiration, with attention to interconnections and systems. Participants were limited in their understanding of the processes impacting multiple ecological levels, and they held inadequate representations of interconnections between the processes. Participants' views were laden with sociological and egocentric components. They often compared plant functions with analogous human functions. Most participants viewed plants as dependent on humans while having societal use. Justifications for views included nominal knowledge of the processes; experiential authoritarian reasoning; and anthropomorphism. We discuss instructional implications in light of the findings. © 2009 Wiley Periodicals, Inc. J Res Sci Teach 46: 791–812, 2009  相似文献   
5.
When reading in the classroom, teachers may use different methods. We examined the impact of different reading conditions on comprehension. Reading aloud involved reading the text aloud for an audience. Silent reading required the students to read the text silently. Follower reading involved listening to another student read the text aloud while having the text available for individual reading. Thirty-six fifth- and sixth-grade students read texts under the three conditions and then took comprehension tests. The students performed equally well under reading aloud and silent reading. Follower reading resulted in worse comprehension. The data suggest that the follower readers focused on their individual reading, making an effort not to listen to the student reading out loud, which consumed cognitive resources. Since reading aloud in the classroom involves not only one loud reader but also a lot of follower readers, silent reading might be the smartest choice.  相似文献   
6.
Recent calls for social justice to be a key aspect of principal preparation have been made, but content related to the efficacy of dual language education has been a neglected area of educational leadership research, coursework, and principal preparation standards. We draw on scholarship focused on dual language education, social justice leadership, and the new Professional Standards for Educational Leadership to describe how principals can create dual language programs and lead for social justice and conclude with implications for preparation programs.  相似文献   
7.
Abstract

Associations of the second-to-fourth digit ratio (2D:4D), a putative marker for prenatal androgen action, and of absolute finger length, a putative marker for pubertal–adolescent androgen action, with sport performance were examined in a multinational sample of 87 world-class women épée fencers. Lower (masculinized) digit ratios correlated, although not significantly so, with better current and highest past world rankings. These correlations were significant for right-hand 2D:4D with controls for the most salient factors for 2D:4D (ethnicity) and world rankings (years of international experience, height, and weight). Longer (masculinized) fingers correlated strongly with better current and highest past world rankings; these correlations became insignificant with the same controls. Replicating previous evidence for fencers, left-handedness was much more prevalent in this sample (21%) than in the female general population, and left-handers had somewhat, but not significantly so, lower 2D:4D as well as better world rankings than right-handers. These findings extend related evidence suggestive of prenatal programming of aptitude across a variety of sports, especially running and soccer. Some known extragenital effects of prenatal testosterone that contribute to the development of efficient cardiovascular systems, good visuospatial abilities, physical endurance and speed, and to the propensity for rough-and-tumble play, apparently promote sporting success in adult life.  相似文献   
8.
Two mechanisms have been suggested to explain stretching-induced maximum force depression: a mechanical alteration in the stretched muscle and an impairment of neural activation. Electrical stimulation allows standardization of the level of muscle activation without being limited by neural control. The aim of this study was to evaluate the stretching-induced changes in the electrical and mechanical properties of muscle during electrically elicited contractions. Twelve participants (age 22 +/- 1 years; body mass 75 +/- 2 kg; stature 1.79 +/- 0.02 m; mean +/- standard error) underwent six electrical stimulations of the medial gastrocnemius muscle before and after stretching. During the contractions, surface electromyogram (EMG) and mechanomyogram (MMG) were recorded simultaneously together with force. After stretching we found: (i) no differences in EMG parameters; (ii) MMG amplitude decreased by 4 +/- 1% (P < 0.05); and (iii) the peak force, the peak rate of force development, and the acceleration peak of force development decreased by 12 +/- 3%, 14 +/- 1%, and 24 +/- 5%, respectively (P < 0.05). In conclusion, acute passive stretching did not change EMG properties but altered the mechanical characteristics of the contracting muscle. Indeed, muscle force-generating capacity and stiffness of the muscle-tendon unit were significantly impaired.  相似文献   
9.
The last Arabic diplomatic document in Barcelona's Crown of Aragon Archive (ACA) that is still to be edited and studied is ACA Arabic doc. 164. The document is a preliminary draft of the commercial and peace treaty drawn up in 1430 by Alfons the Magnanimous, King of Aragon, Naples and Sicily (1396-1458), and the Mamluk Sultan al-Ashraf Sayf al-Din Barsbāy (825-841/1422-1437), signed in Rhodes (Ramadān 7 833/30 May 1430, ACA Arabic doc. 145), and published in 1939 by Ruíz Orsatti. Document 164 contained 111 folios, which were not in order, and for this reason specialists called it the "accursed riddle". The document was probably prepared for discussion during the summer of 1429, a few months before the definitive version was signed. It is longer than the final agreement, and contains an additional Chapter (33) which has not been published to date. Little documentary evidence of diplomatic negotiation between Muslim and Christian powers in Medieval times has survived, and this chapter provides us with a highly unusual example. In the first part of this study the document is described and its contents outlined. In sections 2 and 3 we edit and analyse the contents of the additional Chapter 33 and the Explicit that goes with it, which is absent from Ruíz Orsatti's version. We then present some historical data regarding the Catalan embassy to Rhodes, which will shed light on the diplomatic negotiations that concern us and the historical reasons for the censoring of Chapter 33.  相似文献   
10.
Maximal strength, power, muscle cross-sectional area, maximal and submaximal cycling endurance characteristics and serum hormone concentrations of testosterone, free testosterone and cortisol were examined in three groups of men: weightlifters (n = 11), amateur road cyclists (n = 18) and age-matched controls (n = 12). Weightlifters showed 45-55% higher power values than road cyclists and controls, whereas the differences in maximal strength and muscle mass were only 15% and 20%, respectively. These differences were maintained when average power output was expressed relative to body mass or relative to muscle cross-sectional area. Road cyclists recorded 44% higher maximal workloads, whereas submaximal blood lactate concentration was 50-55% lower with increasing workload than in controls and weightlifters. In road cyclists, workloads associated with blood lactate concentrations of 2 and 4 mmol.l-1 were 50-60% higher and occurred at a higher percentage of maximal workload than in weightlifters or controls. Basal serum total testosterone and free testosterone concentrations were lower in elite amateur cyclists than in age-matched weightlifters or untrained individuals. Significant negative correlations were noted between the individual values of maximal workload, workloads at 2 and 4 mmol.l-1 and the individual values of muscle power output (r = -0.37 to -0.49), as well as the individual basal values of serum total testosterone and free testosterone (r = -0.39 to -0.41). These results indicate that the specific status of the participants with respect to training, resistance or endurance is important for the magnitude of the neuromuscular, physiological and performance differences observed between weightlifters and road cyclists. The results suggest that, in cycling, long-term endurance training may interfere more with the development of muscle power than with the development of maximal strength, probably mediated by long-term cycling-related impairment in anabolic hormonal status.  相似文献   
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