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

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.     

Teaching Prospect Theory with the Deal or No Deal Game Show

Recent evidence indicates that decision makers are more sensitive to potential losses than gains. Loss aversion psychology has led behavioural economists to look beyond expected utility by developing prospect theory. We demonstrate this theory using the Deal or No Deal game show.     

If I experience formative assessment whilst studying at university,will I put it into practice later as a teacher? Formative and shared assessment in Initial Teacher Education (ITE)

The aim of this article is to analyse whether having experience of formative assessment during their initial teacher education courses (ITE) influences graduates’ subsequent practice as teachers. That is, if the assessment methods that university students are subject to during their learning process are then actually employed by them during their professional practice as schoolteachers. To address this issue, questionnaires were issued and focus groups were held with a sample of ITE graduates. The main results of the study are that: (1) formative and shared assessment (FSA) is not used a great deal during ITE, but is highly valued; (2) some graduates have implemented FSA in their practice as teachers, following their experience on their ITE course; and (3) significant variables are found regarding the implementation of FSA in schools (possible resistance from colleagues and/or pupils’ parents, etc.).     

The effects of syllable instruction on phonemic awareness in preschoolers

Purpose

Preschooler instruction for speech sound awareness typically teaches a progression of speech units from sentences to phonemes, ending at simple first phoneme activities. This study investigates the effects of teaching advanced tasks of phoneme blending and segmenting with and without the larger speech unit of the syllable.

Method

Thirty-nine 4-5-year-old typically developing children received twice-weekly small-group instruction in three conditions: two weeks of syllable tasks then four weeks of multiple phoneme tasks (SP), four weeks of multiple phoneme tasks only (MP), or an active control condition of first phoneme instruction (FP).

Results

The conditions SP and MP showed large significant gains on blending and segmenting and no significant differences on first phoneme isolating compared to the FP condition. A comparison of SP and MP did not show significant differences on phoneme blending and segmenting, but SP showed significantly more confusion during early sessions of phoneme instruction.

Conclusion

This preliminary evidence suggests that preschoolers can improve understanding of phoneme blending and segmenting, without first being taught syllable blending and segmenting, and with no negative effects on first sound awareness. These findings support a more efficient way of teaching preschoolers awareness of the individual sounds of speech. Replication with a larger sample, including children at-risk for literacy difficulties, is recommended before firm conclusions should be drawn.     

Reporting Mobile Social Media Use: How Survey and Experience Sampling Measures Differ

Quantifying the ubiquitous, ephemeral, and highly diverse patterns of mobile social media (MSM) use is a challenge for communication research. Most researchers employ retrospective survey measurement, thus depending on the accuracy of users’ memories and generalizations. Alternatively, some researchers rely on in-situ measurement, being less dependent on users’ memories and generalizations, but requiring random situation samples. To assess differences and similarities between these two measurement approaches we analyzed whether characteristics (duration and frequency of a usage episode, habit, elaboration, and gratifications) of MSM use (regarding Facebook, WhatsApp, and YouTube) vary between retrospective survey and mobile experience sampling measurement. We observe a consistent pattern of higher estimates in retrospect as compared to individual averages of in-situ reports. The absolute magnitude of these differences varies considerably between platforms and characteristics studied. Nonetheless, for most constructs and platforms we find low significant positive correlations between retrospective and aggregated in-situ values.     

The Expression of Depressive Symptomatology in Korean American Undergraduates: Sex and Generational Differences

This study examined the influence of acculturation and perception of the university environment on the depressive symptomatology of 228 Korean American undergraduates, with a focus on sex and generational differences. Perceptions of the university environment and perceived barriers were positive predictors of depressive symptomatology in respective regression equations by sex and generation. Study limitations and counseling practice implications are discussed.