Soft skills are very important in the modern world, both for communications and planning daily life and, as both employers and students claim, for career and professional activities. The development of soft skills can occur independently, but there are opportunities to teach them, including at university. Different formats can be used for this, and one of them is microlearning, using a cell phone and the student’s interaction with the teacher and the group on social networks and educational platforms. This format has been applied to two courses at ITMO University: study skills and emotional intelligence. An experiment was conducted, which showed that students who took the course in the microlearning format received the same amount of information and were able to apply it just as well as students who took the course in the classical learning format. Based on the successful use of such a format as microlearning and all its advantages described in the article, in the future it is proposed to form other courses using this learning format.
The novel HLA‐C*05:269 allele was characterized using next‐generation sequencing technology.
BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous variants have been shown to cause CH due to thyroid hypoplasia or TSH resistance. Recently more and more articles in this field have appeared in the international literature sources, while local publications are limited. The studies are necessary to understand the etiology, pathogenesis of the disease, to improve the management of these patients.AIM: To assess the frequency of incidence of pathogenic variants of the TSHR gene in children with CH due to thyroid dysgenesis. To study inheritance and phenotypic patterns of CH in families.MATERIALS AND METHODS: In this single-center interventional one-stage non-comparative study a group of CH patients was examined. The patients underwent neck ultrasound and radionuclide imaging. The examination was performed 14 days after hormone replacement therapy suspension or prior to its initiation. The structure of thyroid dysgenesis was estimated, genetic testing for mutations in the TSHR gene was performed using the NGS method.RESULTS: The study included 95 children with primary CH (75 girls; 20 boys). The patients’ median age at the time of examination was 6.2 years [4.5; 8.9], the median level of neonatal TSH was 157.5 mU/l [60.9; 257.2]. Ectopic thyroid was found in 52% of children, aplasia in 36%, hypoplasia and hemiagenesis in 10% and 2%, respectively. In 5.4% of cases (in 5 out of 95 patients), different variants of the TSH gene were detected. Two children had heterozygous p.R450H and p.D487N variants in TSHR gene, two patients was homozygous for the p.S49Afs * 9 variant, one child had compound heterozygous variants (p.A485D and p.R450H). According to ultrasound imaging, all patients had thyroid hypoplasia of varying severity. Three children underwent thyroid scintigraphy, which revealed decreased 99mТc pertechnetate uptake (0.3–0.9%).CONCLUSION: In our study, the incidence of different variants in the TSHR gene in children with CH was 5.3%. Our analysis uncovered two previously undescribed variants. Genetic testing may be able to help with making the diagnosis, patient’s management, and genetic counseling.
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