Search results for: K. R. Maksimova

Authors: Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alena S. Telepova, Alexander S. Graphodatsky, Dmitry V. Yudkin

Abstract:

A cytogenetic and molecular genetic study of the family with a male child who had mental retardation and autistic features revealed an abnormal chromosome 13 bearing an enlarged p-arm with amplified ribosomal DNA (rDNA) in a boy and his father. Cytogenetic analysis using standard G-banding and FISH with labeled rDNA probes revealed an abnormal chromosome 13 with an enlarged p-arms due to rDNA amplification in a male child, who had clinically confirmed mental retardation and an autistic behavior. This chromosome is evidently inherited from the father, who has morphologically the same chromosome, but is healthy. The karyotype of the mother was normal. Ag-NOR staining showed brightly stained large whole-p-arm nucleolus organizer regions (NORs) in a child and normal-sized NORs in his father with 13p+-NOR-amount mosaicism. qRT-PCR with specific primers showed highly increased levels of 18S, 28S and 5,8 S ribosomal RNA (rRNA) in the patient’s blood samples compared to a normal healthy control donor. Both patient’s father and mother had no elevated levels of rRNAs expression. Thus, in this case, rRNA level seems to correlate with mental retardation in familial individuals with 13p+. Our findings of rRNA overexpression in a patient with mental retardation and his parents may show a possible link between the karyotype (p-arm enlargement due to rDNA amplification), rDNA functionality (rRNA overexpression), functional changes in the brain and mental retardation. The study is supported by Russian Science Foundation Grant 15-15-10001.

Keywords: mental retardation, ribosomal DNA–rDNA, ribosomal RNA–rRNA, nucleolus organizer region–NOR, chromosome 13

Procedia PDF Downloads 228

Authors: E. V. Fakhrutdinova, K. R. Maksimova, P. B. Chursin

Abstract:

At the present stage of the society progress the health care is an integral part of both the economic system and social, while in the second case the medicine is a major component of a number of basic and necessary social programs. Since the foundation of the health system are highly qualified health professionals, it is logical proposition that increase of doctor`s professionalism improves the effectiveness of the system as a whole. Professionalism of the doctor is a collection of many components, essential role played by such personal-psychological factors as honesty, willingness and desire to help people, and motivation. A number of researchers consider motivation as an expression of basic human needs that have passed through the “filter” which is a worldview and values learned in the process of socialization by the individual, to commit certain actions designed to achieve the expected result. From this point of view a number of researchers propose the following classification of highly skilled employee’s needs: 1. the need for confirmation the competence (setting goals that meet the professionalism and receipt of positive emotions in their decision), 2. The need for independence (the ability to make their own choices in contentious situations arising in the process carry out specialist functions), 3. The need for ownership (in the case of health care workers, to the profession and accordingly, high in the eyes of the public status of the doctor). Nevertheless, it is important to understand that in a market economy a significant motivator for physicians (both legal and natural persons) is to maximize its own profits. In the case of health professionals duality motivational structure creates an additional contrast, as in the public mind the image of the ideal physician; usually a altruistically minded person thinking is not primarily about their own benefit, and to assist others. In this context, the question of the real motivation of health workers deserves special attention. The survey conducted by the American researcher Harrison Terni for the magazine "Med Tech" in 2010 revealed the opinion of more than 200 medical students starting courses, and the primary motivation in a profession choice is "desire to help people", only 15% said that they want become a doctor, "to earn a lot". From the point of view of most of the classical theories of motivation this trend can be called positive, as intangible incentives are more effective. However, it is likely that over time the opinion of the respondents may change in the direction of mercantile motives. Thus, it is logical to assume that well-designed system of motivation of doctor`s labor should be based on motivational foundations laid during training in higher education.

Keywords: motivation, quality of working life, health system, personal-psychological factors, motivational structure

Procedia PDF Downloads 328