733 research outputs found

    MODIFICATIONS IN THE MITOTIC AND AMITOTIC DIVISION OF TETRACYCLINE TREATED LYMPHOCYTES, IN VITRO

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    CONCERNING THE ROLE OF GENETIC COUNSELLING IN DIAGNOSTIC SPECIFYING OF ANOMALIES OF SEXUAL DEVELOPMENT

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    URGENT DIAGNOSIS IN PRACTICAL GENETIC COUNSELLING

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    PRENATAL DIAGNOSTICS IN THE GENETIC COUNSELING - VARNA

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    The authors report data from the follow-up of 167 pregnancies in the Medical Genetic Counseling in Varna for the period 1996-2001. In 44% of the cases a primary prevention was aimed. It was established that parental age was the most common indication for prenatal diagnostics (PD) - in 29% of the pregnancies. It was followed by the effects of drugs and/or infectious agents (in 14%), impaired reproduction (in 12%), neural tube defects (in 11%), chromosomal diseases (in 8%), multiple anomalies (in 7%) and single gene disease (in 3%). PD under the indication of'other diseases' was carried out in 16% of the pregnancies. Data were compared to those reported by the authors for the period 1983-1987. It is emphasized that PD is a unique preventive method of a high social value

    COMPARATIVE STUDY ON THE EFFECT OF TETRACYCLINE AND TETRAOLEANE ON CULTIVATED HUMAN LYMPHOCYTES

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    MOLECULAR GENETIC TESTS - A BASIC APPROACH FOR INVESTIGATING THE GENOME OF T H E POPULATION

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    Fundamental importance of molecular genetic tests in solving clinical problems is outlined. Relations between genetic counseling and laboratory for molecular pathology in putting molecular genetic tests into practice are focused. Authors look at the possibilities for immediate application of DNA analysis according to the degree of exploration of different genes, determining monogenic diseases. Attention is paid to the methods for direct and indirect DNA analysis used postnatally and prenatally both for diagnosis and prevention. Definition of 'informative' risk family is given, being an object for indirect methods of DNA analysis. Molecular genetic tests are shown as basis for research, genetic investigations of the populations and the diseases spread in them and for creating and applying mass and selective diagnostic and preventing screening programs that aim at ameliorating the human genome and decreasing the number of patients with socially significant hereditary diseases

    GENETIC COUNSELING - AN APPROACH FOR SOLVING DIAGNOSTIC PROBLEMS IN CLINICAL PRACTICE

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    The authors report five clinical cases in which the geneticist in the genetic counseling has come across family history and pedigree data for a certain type of inheritance of the disease in the concrete family and that has been the reason for changing the clinical diagnosis. In the first case report the primary diagnosis of tu cerebri was changed to Marfan syndrome. In the second case report the diagnosis of idiopathic osteoporosis was changed to osteogenesis imperfecta, an  autosomal dominant form. In the third case report the diagnosis of Friedreich ataxia was denied and clinical thinking was focused on autosomal dominant forms of neurodegenerative entities. In the fourth case report the diagnosis of Duchenne muscular dystrophy (Є-recessive disease) was not confirmed and further tests were directed to eventually finding autosomal dominant forms of progressive muscular dystrophies. In fifth case report the primary diagnosis of'diversions in the endocrine status' was not confirmed because an autosomal dominant anhydrotic ectodermal dysplasia was found out. It was pointed out that geneticist's efforts in these and other similar cases contributed to a more precise diagnosis or even changed the primary diagnosis. This optimized the work in the clinical settings and made the prevention of some hereditary diseases possible

    Leukocyte Profile of Blood of Cows at Using “Leucozav” Against Leucosis of Cattle

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    The development of specific medical forms for fighting against the tumor disease (cancer) of people and animals has the extremely important value. The preparation «ZG-2011» («Leucozav») was invented in 2000-2006 by research associates of SSI “State center of innovative biotechnologies” that forms in inoculated animals the specific anti-viral immunity that protects cattle from being infected by the leucosis causative agent. Analogues of this preparation in Ukraine are absent. The main aim of the study is the determination of “Leucozav” influence on morphologic parameters of blood (leukocyte profile) of clinically healthy cows and ones, infected by leucosis.The object of the study was blood of cattle (milk herd), considered as unfavorable as to leucosis.Blood samples were studied before administering “Leucozav” and after that. Serological and immunological research methods were used.At the experiment it was studied, that «Leucozav» administration to infected animals normalizes leukocytes number and the ratio of their separate forms in blood of cows. In blood samples, taken of healthy cows, the preparation administration doesn\u27t influence the leukocyte profile.This experiment gives grounds to recommend the newly created preparation«Leucozav» to cows with leucosis, because it normalizes the number of leukocytes and their ration in separate forms in blood of RID-positive cows that react positively at the immune diffusion reaction in the agar gel at the study of leucosis of cattle
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