URGENT DIAGNOSIS IN PRACTICAL GENETIC COUNSELLING

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THE COMPUTER SIMULATION OF THE MOLECULAR STRUCTURE OF SELENIUM ELECTROPHOTOGRAPHIC LAYER

The modern selenium electrophotographic photosensor is a multilayer system in which different properties of various layers are attained by changes in the material molecular structure without any changes in its chemical composition. The models of the selenium molecular structure at different distances from the surface of the electrophotographic layer are considered. The changes of the bond length, the bond angle and the dihedral angle distributions are analysed for various parts of the layer. The correlation between the form of the third peak of RDF and the short range order parameters of selenium is defined

PRENATAL DIAGNOSTICS IN THE GENETIC COUNSELING - VARNA

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

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

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

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 (Ð¥-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