ABSTRACT
The review on problem tapetoretinal degeneration (TD) which represents serious enough and incurable disease revealed with frequency 1 : 3500-5000 in general population is presented. The most often reason of occurrence TD are mutations in RHO, RDS and RPE65 genes. The precise interrelation of pigmentary degenerations of a retina and mutations in genes RHO, RDS and RPE65 will allow to develop approaches of DNA--diagnostics of hereditary dystrophies of a retina so frequently meeting in clinical practice of the ordinary ophthalmologist, and also to pass at medical genetics consultation from probability estimations of risk of disease to unequivocal. Also the molecular analysis of genes changes in the providing correct functioning of photoreceptors and pigmentary epithelium of a retina and determining pathological changes at TD, will allow to approach to understanding of the physiological and pathological processes proceeding in a retina and by that will serve becoming and development pathogenic to caused therapy TD closer.
Subject(s)
Carrier Proteins/genetics , Eye Proteins/genetics , Intermediate Filament Proteins/genetics , Membrane Glycoproteins/genetics , Mutation , Nerve Tissue Proteins/genetics , Retinitis Pigmentosa/genetics , Rhodopsin/genetics , Animals , Carrier Proteins/metabolism , DNA Mutational Analysis , Eye Proteins/metabolism , Genetic Counseling , Humans , Intermediate Filament Proteins/metabolism , Membrane Glycoproteins/metabolism , Nerve Tissue Proteins/metabolism , Peripherins , Photoreceptor Cells, Vertebrate/metabolism , Photoreceptor Cells, Vertebrate/pathology , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/metabolism , Retinitis Pigmentosa/pathology , Rhodopsin/metabolism , Risk Factors , cis-trans-IsomerasesABSTRACT
Congenital deafness is a severe, incurable and hardly correctable inherited disease. Mutations in GCB2 and GJB6 genes are most prevalent causes of deafness and occur in patients with hereditary and sporadic deafness all over the world. Some ethnic groups exhibit high rate of heterozygous carriage of most frequent GJB2 mutations (35delG, 167delT, 235delC). Definite association of hereditary deafness and mutational alterations in genes of connexins 26, 30 and 31 shows high informative value of molecular-genetic methods which diagnose hereditary deafness, carriage of mutations in GJB2, GJB3 and GJB6 genes, provide definite probability of the disease in medico-genetic consulting. Further progress in genetics of hereditary hearing loss will raise efficacy of deafness diagnosis at early stages of fetal development and prevent birth of babies with congenital defects of sound perception.
Subject(s)
Auditory Perceptual Disorders/genetics , Auditory Perceptual Disorders/metabolism , Connexins/genetics , Auditory Perceptual Disorders/ethnology , Connexin 26 , Connexin 30 , Ethnicity/statistics & numerical data , Hair Cells, Auditory, Outer/metabolism , Humans , Point Mutation/genetics , Polymorphism, Genetic/geneticsABSTRACT
A system of self-control of the patients nutrition using the V. S. Vorobyov calculator was introduced to prevent early complications in diabetes mellitus patients, 112 patients were followed up during 5 months. 35 of them were administered insulin, 65 sugar-reducing drugs per os, and 12 patients were given diets. Introduction of the self-control system in the nutrition of diabetes mellitus patients made it possible to achieve stable compensation in 89.4% patients, reduction of the dose or withdrawal of oral sugar-reducing drugs, and reduction of the insulin dose. It is suggested to devise a unified system for training diabetes mellitus patients, with a special section on training self-control methods in nutrition.
