The purpose of the article is to introduce a systematic, three-level video analysis method for tracing the emotional aspects of a collaborative design and making process. Maker-centred learning can ...evoke strong emotions affecting students’ motivation because it involves them in externalising their ideas through conceptual, visual and material artefacts. For analysing longitudinal collaborative processes, we developed the visual Making-Process-Rug video analysis method, which enables tracing materially mediated verbal and embodied making processes. We provide examples of the method using data, where a team of seventh-grade students performing regular schoolwork were engaged in using traditional and digital fabrication technologies for inventing, designing, and making artefacts. Taking a case study perspective, we focus on a team of four students who worked on a smart product project. We analysed video recordings from the team’s 11 hours of design and making sessions on three levels: macro, intermediate and micro. The benefit of the three-level method is that it allows simultaneous analysis of social-discursive and materially embodied aspects of activities. It also enables analysing large samples of video data systematically, and focusing on both micro-level and macro-level perspectives of activity. The method for identifying emotions from video data has potential for educational research on various fields, however, the culture-specific expressions and interpretations of emotions require special attention when developing the method further.
Keywords: basic education, collaborative process, emotional expression, Making-Process-Rug, sociomateriality, video analysis method
To tackle the missing heritability of sporadic heart failure, we screened for novel heart failure-associated genetic variants in the Finnish population and functionally characterized a novel variant ...in vitro and in vivo.
Heart failure-associated variants were screened in genotyping array data of the FINRISK study, consisting of 994 cases and 20,118 controls. Based on logistic regression analysis, a potentially damaging variant in TRIM55 (rs138811034), encoding an E140K variant, was selected for validations. In HL-1 cardiomyocytes, we used CRISPR/Cas9 technology to introduce the variant in the endogenous locus, and additionally TRIM55 wildtype or E140K was overexpressed from plasmid. Functional responses were profiled using whole-genome RNA sequencing, RT-PCR and Western analyses, cell viability and cell cycle assays and cell surface area measurements. In zebrafish embryos, cardiac contractility was measured using videomicroscopy after CRISPR-mediated knockout of trim55a or plasmid overexpression of TRIM55 WT or E140K. Genes related to muscle contraction and cardiac stress were highly regulated in Trim55 E140K/− cardiomyocytes. When compared to the WT/WT cells, the variant cells demonstrated reduced viability, significant hypertrophic response to isoproterenol, p21 protein overexpression and impaired cell cycle progression. In zebrafish embryos, the deletion of trim55a or overexpression of TRIM55 E140K reduced cardiac contractility as compared to embryos with wildtype genotype or overexpression of WT TRIM55, respectively.
A previously uncharacterized TRIM55 E140K variant demonstrated a number of functional implications for cardiomyocyte functions in vitro and in vivo. These findings suggest a novel role for TRIM55 polymorphism in predisposing to heart failure.
Display omitted
•Variants in TRIM55 modify the risk of heart failure but mechanisms are unknown.•TRIM55 E140K-coding variant (rs138811034) is implicated in heart failure pathogenesis.•The variant regulates a number of genes involved in cardiac contractility and stress.•The variant has functional effects on cell cycle progression and hypertrophy.•Overexpression of the variant decreases cardiac contractility in zebrafish embryos.
Background: To investigate changes in smoking prevalence associated with social factors and existing health policies among adolescents in Russia from 1995 to 2004. Methods: In 1995 and 2004 a ...confidential questionnaire was distributed to every 9th grade student of all 10 comprehensive schools of the Pitkäranta in Republic of Karelia, Russia. In 1995, 385 children participated in the survey (response rate 95%) and 395 children (response rate 85%) in 2004. Results: Twenty-nine percent of boys smoked daily in 1995 and 31% in 2004. Daily smoking doubled from 7% to 15% for girls. Smoking in the schoolyard increased among girls. The proportion of girls who reported smoking at home with their parents’ knowledge increased. Both genders cited the ease of purchasing tobacco as a minor. Knowledge about the fast development of tobacco addiction increased statistically significantly among boys. Fewer numbers of respondents of either gender thought that young smokers look ‘cool’ and more grown up. Having a best friend who smoked was the strongest predictor for smoking for both genders. Conclusion: Smoking has increased among girls. Social environment is a predisposing factor. Anti-smoking legislation was implemented weakly. Minors purchase tobacco relatively easily. Knowledge about tobacco's harmfulness has somewhat increased but is not sufficient to deter starting smoking, especially among non-smoking girls. Adequate education of adolescents on the hazards of tobacco consumption is needed, accompanied by a more determined enforcement of health policies. The potent influence of peers should be considered when planning preventive interventions.
Epidemiological and genetic linkage studies have indicated a strong genetic basis for development of inflammatory bowel disease (IBD) which was recently supported by discovery of the Crohn's disease ...(CD) susceptibility gene termed NOD2/CARD15. We carried out a genome-wide linkage study in Finnish IBD families, providing a particular advantage to map susceptibility genes for ulcerative colitis (UC) within a genetic isolate. Initially, 92 IBD families with 138 affected sib-pairs (ASPs), were genotyped for 429 markers spaced at approximately 10 cM intervals. Next, the loci on chromosomes 2p13-11, 11p12-q13, and 12p13-12 were high-density mapped in the extended family cohort of 130 families with 173 ASPs. In this study, the most significant lod scores were observed for the UC families on chromosome 2p11 (D2S2333), in the vicinity of the REG gene cluster which is strikingly overexpressed in the IBD mucosa. The maximum two-point lod score was 3.34 (dominant model), and the corresponding NPL score 2.61. For UC, the second highest two-point NPL score of 2.00 was observed at proximal 12p13, where also some evidence for linkage disequilibrium emerged (P=0.07 and P=0.007 for the basic and extended IBD cohorts, respectively). The highest two-point NPL score for the CD families was 2.34 at D12S78 (12q23) with significant evidence for linkage disequilibrium (P=0.004), and for the mixed (MX) families 2.07 at D4S406 near the linkage peak reported previously. This study confirmed several of the IBD loci that have previously been reported and gives evidence for new IBD loci on chromosomes 2p11, 11p12-q13, 12p13-12, 12q23, and 19q13.
In inflammatory bowel diseases (IBD), certain chromosomal candidate loci have been repeatedly identified by independent studies in different populations. To investigate the contribution of the loci ...on chromosomes 1, 3, 7, 12, 14, and 16 to the susceptibility of IBD in Finnish population, where the predominant feature is the excess of ulcerative colitis (UC) families compared to Crohn's disease (CD) families, we carried out linkage analyses using 93 Finnish, multiply-affected IBD families. We observed nominal evidence for linkage to chromosome 3p21, consistent with earlier reports. The lod scores peaked at D3S2432, with a maximum two-point lod score of 1.68 (P=0.0027). In addition, we studied whether risk of IBD is associated with functional variants of two positional candidate genes; the chemokine receptor CCR5 gene on chromosome 3p21 and the interleukin-4 receptor alpha-subunit gene (IL4RA) on chromosome 16. We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). In conclusion, our study, carried out in a genetically homogenous population, suggests that chromosome 3 may contain a susceptibility gene for IBD.
Objective. The two forms of inflammatory bowel disease (IBD), Crohn's disease (CD) and ulcerative colitis (UC), are thought to arise because of an interplay of unfavorable genetic and exogenous ...factors. During a genome-wide linkage study of IBD, we observed a nominal linkage to chromosome 11p12-q13 that was further confirmed upon fine density mapping. This chromosomal region contains a functional IBD candidate gene coding for tumor necrosis factor receptor-associated factor 6 (TRAF6), a signal transducer regulating innate and adaptive immunity as well as bone homeostasis. Material and methods. Using denaturing high-performance liquid chromatography (dHPLC) and DNA sequencing, all exons and exon-intron boundaries of the TRAF6 gene in probands of 95 IBD families were initially screened; this material comprised 20 CD, 39 UC and 36 mixed families. Results. No nucleotide changes in the coding sequence of TRAF6 were detected, but a single-base insertion/deletion polymorphism in a polythymine stretch (containing 8 or 7 thymines, respectively) in intron 3 was identified. However, examination of an extended material of 290 unrelated CD patients, 416 UC patients and 320 healthy blood donors failed to show any association with this 7T/8T variation and IBD, nor was this polymorphism related to specific clinical features in IBD. Conclusions. Our study tends to exclude a good positional and functional candidate gene, TRAF6, as an IBD predisposing gene and lends support to the idea that the function of TRAF6 is important enough not to permit structural alterations of this mediator.
PDF
