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21.

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   
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23.
This article discusses teacher autonomy in the case of the Swedish teaching profession since the 1980s. It is argued that deregulation, decentralization, and marketization reforms of the 1990s have indeed increased teacher autonomy, but in some respects also led to a increase of complexity in the Swedish school system. In order to handle this complexity, the state intensified a standardization of schooling, which restricts teacher autonomy today. Relevant the paper's understanding is that teacher autonomy is always about control, exerted internally by the profession itself and facilitated externally by state standards. The article argues that the restriction of teacher autonomy in recent times is also related to a simplified understanding of the phenomenon in the reforms of the 1990s.  相似文献   
24.
Interest is a central learning prerequisite for teaching. The article deals with a survey among 1600 primary school pupils in forms 2, 3 and 4 (ages 7–10) in the German federal state of Bavaria who were interviewed on their interest in geographical topics and working methods. They were given a questionnaire including 40 items to indicate their individual interest on a five-point Likert scale. The results show that the subscale ‘natural disaster' generates the highest interest, followed by ‘phenomena of geoscience' and ‘people and peoples'. The interest in all three subscales decreases with increasing age. Furthermore, several gender-specific differences occur. Among the working methods, experimenting, films and computers hold the first three places whilst again showing significant differences concerning age group as well as gender.  相似文献   
25.
The purpose of this paper is to analyze the impact of a series of contextual and organizational factors on the success of 800 cooperative agreements between Spanish firms and research organizations, run between 1995 and 2000. Findings show that the most outstanding factors are, in the case of firms, commitment, previous links, definition of objectives and conflict, whereas for research organizations previous links, communication, commitment, trust and the partners’ reputation are more relevant. These study not only provides a comprehensive theoretical model to analyze the success of these agreements but is useful both for improving management of cooperation and for fostering collaboration both at a national an international level.  相似文献   
26.
The article presents an analysis of how diversity is defined and attended to in Swedish schools. The research reported has been carried out as a case study of categorizing practices that concern the uses of neuropsychiatric diagnoses, notably ADHD. The data were collected as part of a larger study. The interaction over a two-year period between the parents of a boy (William, aged 5.5 years) and representatives of the school (school psychologist, principal, teacher etc.) has been analysed. It is shown that parents and professionals provide different accounts of William’s difficulties. The parents, while not denying that their son causes problems in class, argue that the boy will mature and that the problems will disappear. The representatives of the school try to convince the parents that a neuropsychiatric examination of the boy will be beneficial to all parties. The long process of negotiation can be understood as a rhetorical drama, where the category ‘ADHD’ serves as the resolution of a complex institutional problem in the modern welfare state.  相似文献   
27.
Basic numerical representations are seen as the building block for the successful development of more complex numerical and arithmetic competencies. Extending previous studies focusing on improving basic numerical representations by means of embodied training schemes, the current study focused on an embodied training of children’s place-value understanding. In this vein, 49 secondgraders were trained on solving a number line estimation task by stepping on different fields of a dance mat allowing for separate estimations of tens and units with more effort needed to step on the tens. In a partially randomized cross-over design, two control conditions were used to controll for training effects caused exclusively by the numerical content trained or the use of the dance mat. Interestingly, results revealed specific training effects after both the embodied and the control conditions. However, training effects were significantly more pronounced after the embodied training, thereby providing further evidence for the benefit of an embodied training of the place-value structure of the Arabic number system.  相似文献   
28.
29.
Ovarian cancer is the leading cause of death from gynecological malignancies in women. The primary challenge is the detection of the cancer at an early stage, since this drastically increases the survival rate. In this study we investigated the dielectrophoretic responses of progressive stages of mouse ovarian surface epithelial (MOSE) cells, as well as mouse fibroblast and macrophage cell lines, utilizing contactless dielectrophoresis (cDEP). cDEP is a relatively new cell manipulation technique that has addressed some of the challenges of conventional dielectrophoretic methods. To evaluate our microfluidic device performance, we computationally studied the effects of altering various geometrical parameters, such as the size and arrangement of insulating structures, on dielectrophoretic and drag forces. We found that the trapping voltage of MOSE cells increases as the cells progress from a non-tumorigenic, benign cell to a tumorigenic, malignant phenotype. Additionally, all MOSE cells display unique behavior compared to fibroblasts and macrophages, representing normal and inflammatory cells found in the peritoneal fluid. Based on these findings, we predict that cDEP can be utilized for isolation of ovarian cancer cells from peritoneal fluid as an early cancer detection tool.  相似文献   
30.
OBJECTIVES: To examine the effects of different forms of family violence at two developmental stages by assessing a sample of 110 Israeli children, drawn from the case files of Israeli family service agencies, studied longitudinally in both middle childhood and adolescence. METHODS: Information about the children's adjustment was obtained from parents, teachers, and the children themselves when the children averaged 10.6 and 15.9 years of age using the Child Behavior Checklist (CBCL), Teacher Report Form (TRF), Youth Self-Report (YSR), and Children's Depression Inventory (CDI). Information about the history of family violence was obtained from the mothers, fathers, children, and social workers. RESULTS: The results paint a mixed picture of the effects of family violence on children and adolescents. The relationship between concurrent behavior problems and abuse group varied by informant and study phase, although they were strongest when children were the informants. Predictions regarding the relationship between early abuse and later adjustment were only partially confirmed. Different informants did not agree about which groups of children were most adversely affected, there was little stability over time in the pattern of reported effects, and children were more likely than other informants to report levels of maladjustment that varied depending on recent or concurrent exposure to family violence. Many families changed their abuse status over time, and children who were new victims at follow-up had the most internalizing problems. Girls were found to be at more risk for internalizing and externalizing behavior problems than boys. CONCLUSIONS: Multiple informants are necessary to evaluate and assess the effects of family violence on children's behavior. Younger children may be more susceptible to the effects of family violence than older children, but problems manifest by some children may not carry over to adolescence. Changes in family and parenting practices, as well as in children's capacity to appraise and cope with family violence may help mitigate the adverse effects of family violence.  相似文献   
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