Effect of Technology Professional Development on Students’ e-Skills and Motivation

Empirically-based and theoretical approaches to the question how to prepare young people to succeed in the conditions of global knowledge economy argue for a more pronounced role of formal education in developing students’ e-skills. Programs for developing teachers’ competencies to integrate digital media in their subject teaching can be seen as a key measure toward developing students’ e-skills through formal education. Findings from the evaluation of a large-scale program for professional development in Germany - Intel ® Teach - Advanced Online reveal that using technology in class in learner-centered contexts by teachers had a positive effect on students’ motivation and skills for using digital media and collaboration. Teachers reported less effect on students’ active participation in class

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特集 ロシア・中東欧エッセ

Serious Games and Virtual Worlds for High-level Learning Experiences

The present research aims to discuss the role of serious games and virtual worlds as emerging technologies leading to high-level learning experiences. A review of theoretical concepts for knowledge acquisition and learning is provided, focusing on the role of personal experiences and trial-anderror methods. Some of the basic characteristic of serious games and virtual worlds have been reviewed and their main advantages and limitations for elearning are discussed. Thus a model for interactive virtual environment, integrating SG&VW and e-Learning is proposed, aiming to deliver high-order learning experiences. Finally the paper discovers some of the main limitations of SG and VW in practice and provide a number of considerations for their wider integration in the learning process

Two autosomal recessive neuromuscular disorders - FRDA and LGMD2A, in a single Bulgarian pedigree

Here we report a single pedigree affected by two different recessive neuromuscular disorders, namely Friedreich ataxia (FRDA) and Limb-Girdle Muscular Dystrophy Type 2A. The molecular genetic testing showed that in this family FRDA is caused by an expanded GAA repeat in compound heterozygous state with a novel point mutation c.442C>T, p.Gln148* on the second allele of the FXN gene. This case of two siblings (male and female) is the first report of Bulgarian FRDA case carrying a point mutation in the FXN gene. The LGMD2A affected individual was found to be compound heterozygous for the two most common CAPN3 mutations for the Bulgarian population (c.550delA, p.Thr184Argfs; c.967G>T, p.Glu323*). To the best of our knowledge we are reporting the first Bulgarian family with two neurological disorders caused by mutations in genes on different chromosomes and segregating independently in the family. This single pedigree with four different mutations is an example for the high genetic heterogeneity of the Bulgarian population

PROBLEMATIC ASPECTS AND CHALLENGES AHEAD OF THE MEDICAL PROFESSIONALS WORKING IN EMERGENCY MEDICAL CARE IN BULGARIA

PURPOSE: The article aims to determine the most common problematic aspects and challenges ahead of the medical professionals working in emergency medical care in the Republic of Bulgaria. For that reason, scientific developments, reports and publications of researchers and experts have been studied and analyzed. MATERIALS AND METHODS: A survey was conducted via an interview and direct anonymous questionnaire throughout the first quarter of 2019 amongst 325 respondents. RESULTS: The medical professionals providing emergency medical care face numerous challenges that require instant and adequate measures. Options for overcoming the difficulties that medical professionals face daily are sought at all levels of the hierarchy. A lot of work is done in the direction of a real interaction between all the subjects. CONCLUSIONS: The issues of the EMC require complex, radical measures

Molecular-genetic diagnosis of a Bulgarian family with multiple endocrine neoplasia, type IIA

INTRODUCTION: Multiple Endocrine Neoplasia (MEN) is a rare autosomal dominant disease with frequency 1:30 000 and it is classified in 3 subtypes: MEN 2A (Sipple syndrome), familial medullary thyroid carcinoma (FMTC), MEN 2B. The MEN 2A subtype constitutes approximately 70%-80% of cases of MEN 2. The onset age of the MEN 2A is prior to age 35 years. MEN 2A has an increased risk for parathyroid hyperplasia or adenoma. The clinical diagnosis is suspected when at least 2 specific endocrine tumors are detected in one patient or close relatives (MTC, pheochromocytoma, parathyroid adenomas). MTC is suspected in case of increased serum levels of calcitonin. The biochemical phenotype of MTC is revealed between age 5 and 25 (mean age 15 years). The tumor formation in the neck area is between age of 15 and 20 (2). Although there is controversy surrounding the definition of CCH, its utility to identify or confirm MEN 2 has been essentially replaced by RET (REarranged during Transfection) protooncogene testing. This allows the early surgery interventions, proper genetic counseling and prenatal diagnostics.MATERIAL AND METHODS: We report on a Caucasian male with complains of general weakness and weight loss (10 kg for 2 month). The patient`s mother has been diagnosed at 47 as bilateral pheochromocytomas and struma nodosa and died at age of 51. In the index patient abdominal ultrasound examination with biopsy of adrenal glands and histological analysis revealed pheochromocytoma on the right side; elevated plasma calcitonin concentration and US scan with biopsy of thyroid tissue detected medular thyroid cancer. The index patient has two elder brothers - it turned out that one of them had been surgically treated for medular thyroid cancer in the past; bilateral pheocromocytomas were detected in the family screening process.RESULTS AND CONCLUSION: MEN 2A diagnosis was suspected and we performed sequencing of RET protooncogene. The genetic analysis of the family affected members revealed c.1902C>G, p.Cys634Trp heterozygous mutation. Unfortunately, two kids in the families of 2 of the brothers have also inherited the mutation. All adult family members were offered genetic counseling. The standard therapy and the prophylactic thyroidectomy include the surgical removal of the thyroid gland, followed by parathyroid gland autotransplantation. In case codon 634 mutation the surgery is recommended before age of 5 years. All affected relatives are going through monitoring for residual disease. The screening protocol includes plasma levels of calcitonin. The stimulation tests are more sensitive than calcitonin measurements alone so they are recommended

The role of the newborn screening programme (NSP) for the diagnosis of a 17-year-old boy with congenital Adrenal Hyperplasia (cah) due to 21 OH deficiency

A newborn boy was diagnosed with CAH via the 2010 implemented NSP in Bulgaria. The 17-OH-progesterone (17-OHP) from the 1st filter paper card (FPC) was 44.6 nmol/l, from the 2nd FPC 80 nmol/l. The examination on day 15th revealed as `only` sign slight hyperpigmentation of the scrotum. The screening suspicion `classical CAH` was confirmed by the increased serum levels of 17-OHP (normal electrolytes) and treatment with hydrocortisone was started. The MLPA analysis revealed a hemizygous del3-4, c.622T>A; p.I173N. Family history: 2nd son of relatively short parents - mother`s height - 152 cm (SDSh = -2.12), father`s height - 164 cm (SDSh= -1.96), MPH- 158 cm, SDS MPH= -2.54. The height of his older brother is 157 cm (SDSh= -3.01), while his target height of 164.5 cm (SDSh= -1.88) was markedly above the actual height. At 7 years he had initial pubarche and was the tallest boy in his class. He was taller than the average for his age until 12 years then he stopped growing. The older boy was also brought to a pediatric endocrinologist at 17 years of age. Elevated levels of 17-OHP in the serum >60 nmol/l (157.4) and on FPC:>285 nmol/l (537), together with the genetically verified CAH in the younger brother lead to the diagnosis `simple virilizing 21 OHD`, so treatment with hydrocortisone was started.Conclusion: Some of the simple virilizing forms of CAH may remain unrecognized, esp. in `index-families`. The newly implemented CAH NSP represents a useful diagnostic tool also in such cases. Ultrasound of the adrenals and testes for testicular rest tumors is important initially and during follow up