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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.
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   
5.
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   
6.
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   
7.
ObjectiveThis study sought to analyze the prospective association between vigorous-intensity physical activity (VPA) and health-related outcomes in children and adolescents.MethodsStudies reporting associations between device-measured VPA and health-related factors in children and adolescents aged 3–18 years were identified through database searches (MEDLINE, EMBASE, and SPORTDiscus). Correlation coefficients were pooled if outcomes were reported by at least 3 studies, using DerSimonian-Laird random effects models.ResultsData from 23 studies including 13,674 participants were pooled using random effects models. Significant associations were found between VPA at baseline and overall adiposity (r = −0.09, 95% confidence interval (95%CI): –0.15 to –0.03; p = 0.002; I2 = 89.8%), cardiometabolic risk score (r = –0.13, 95%CI: –0.24 to –0.02, p = 0.020; I2 = 69.6%), cardiorespiratory fitness (r = 0.25, 95%CI: 0.15−0.35; p < 0.001; I2 = 57.2%), and total body bone mineral density (r = 0.16, 95%CI: 0.06 to 0.25; p = 0.001; I2 = 0%).ConclusionVPA seems to be negatively related to adiposity and cardiometabolic risk score and positively related to cardiorespiratory fitness and total body bone mineral density among children and adolescents at follow-up. Therefore, our findings support the need to strengthen physical activity recommendations regarding VPA due to its health benefits in children and adolescents.  相似文献   
8.
This paper explores the changes in intergenerational mobility seen in Spain during the last century. It examines educational and occupational mobility, paying particular attention to the existence of a differentiated gender effect. The magnitude of the historical changes that have taken place in Spain during the twentieth century and the scarcity of studies in this field increase the value of this paper. More specifically, the paper seeks to describe how the situation has changed with the social–economic and education policy developments in democratic Spain, especially with regards to women. The main results show that while educational mobility has improved, there has been no such significant change in occupational mobility.  相似文献   
9.
10.
The ideas used by some 13 year old pupils to explain the properties of substances and their changes are analysed and discussed in this paper. A significant number of pupils use explanations which have been categorised as substantialisation of properties. This categorisation has been justified in this paper on the basis of a study of the history of science. An analysis of the consistency with which students use this type of explanation, and factors favouring its use, has been carried out.  相似文献   
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