ABSTRACT
Cytochemical analysis of lymphocytes' enzymes may could be an alternative method to skeletal muscle biopsy in diagnosis of mitochondrial pathology. We investigated biopsies of skeletal muscles and cytochemical status of lymphocytes in 14 children with mitochondrial pathology. Lymphocytes were investigated also in 12 health children. The data on mitochondrial state in the skeletal muscles and peripheral blood lymphocytes were comparable. The less were the size and functional activity of single mitochondria in lymphocytes, the higher was mitochondrial insufficiency in the skeletal muscle. Enzymatic status of peripheral blood lymphocytes is not less indicative of mitochondrial insufficiency in children than mitochondrial characteristics in skeletal muscles. It reflects multisystem mitochondrial insufficiency. The results obtained are determined by both mitochondrial pathological modifications and their compensatory response to pathological process.
Subject(s)
Lymphocytes/metabolism , Mitochondrial Myopathies/diagnosis , Mitochondrial Myopathies/metabolism , Muscle, Skeletal/metabolism , Calcium/metabolism , Child , Child, Preschool , Enzymes/metabolism , Humans , Lymphocytes/pathology , Mitochondrial Myopathies/pathology , Muscle, Skeletal/pathology , Predictive Value of Tests , Regression AnalysisABSTRACT
The authors' long-term experience in diagnosing and treating childhood hereditary growth and developmental disturbances, such as genetic diseases of connective tissue, amino acid metabolic disturbances, rickets-like diseases, mitochondrial abnormalities, Rett syndrome, and fragile X syndrome is presented. The findings suggest that multimodality treatment is highly effective in treating children with hereditary growth and developmental disturbances in genetic care.
Subject(s)
Developmental Disabilities , Genetic Techniques , Growth Disorders , Developmental Disabilities/diagnosis , Developmental Disabilities/genetics , Developmental Disabilities/therapy , Growth Disorders/congenital , Growth Disorders/diagnosis , Growth Disorders/therapy , HumansABSTRACT
Rett syndrome in 32 children (31 girls and 1 boy) was diagnosed according to International association on Rett syndrome. The phenomenon of the presence of special type of late-replicating chromosome X (type C) was revealed. This phenomenon may be recommended as a diagnostic test for both preclinical periods of development of the disease and in atypical cases of Rett syndrome.
Subject(s)
Rett Syndrome/diagnosis , X Chromosome , Child , Child, Preschool , DNA Probes/chemistry , DNA Replication , Female , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Pedigree , Rett Syndrome/genetics , Rett Syndrome/metabolism , Sex Chromosome AberrationsABSTRACT
Indices of both platelet serotoninergic system and the system of nerve growth factor (NGF) were examined in children with neurofibromatosis (15 patients), polygenic oligophrenia (24 patients) and Rett's syndrome (14 ones). There was an increase of both the level of blood serum autoantibodies (aAB) to NGF and the value of specific binding of 3H-imipramine (Bmax) in platelets of patients with oligophrenia. For this group of patients a significant negative correlation exists between the rate of platelet uptake of serotonin (Vmax value) and the degree of mental retardation (r = -0.425, p < 0.03). Decrease of both Vmax and activity of platelet NGF receptors was revealed in patients with neurofibromatosis. In such patients there was positive correlation between sensitivity of platelet NGF receptors to NGF (during their stimulation by test dose of purified NGF) and the degree of mental retardation (r = 0.697, p < 0.04). In patients with Rett's syndrome a significant increase of activity of platelet NGF receptors to NGF was observed. The conclusion was made on the existence of some general mechanism of intellectual defect development. Autoimmune processes considered to be such mechanism.
Subject(s)
Autoimmune Diseases/blood , Blood Platelets/metabolism , Intellectual Disability/blood , Nerve Growth Factors/blood , Neurofibromatosis 1/blood , Rett Syndrome/blood , Serotonin/blood , Adolescent , Autoantibodies/blood , Child , Child, Preschool , Female , Humans , Male , Nerve Growth Factors/immunology , Receptors, Nerve Growth Factor/blood , TritiumABSTRACT
The repair activity of DNA was studied by variola vaccine virus reactivation and induced mutagenesis tests in the peripheral blood lymphocytes of children living in areas with an increased level of ionizing radiation due to breakdown at the Chernobyl' nuclear power station. A more profound repair disturbance was revealed in children living on strictly controlled territories and born after the disaster, compared to those born before it, and children living in areas where the radiation level does not exceed background values. The disturbances were characterized by increased induced mutagenesis and decreased reactivation of the variola vaccine virus. No changes in the degree of DNA repair synthesis were registered in any of the groups studied.
Subject(s)
DNA Repair , Lymphocytes/radiation effects , Power Plants , Radioactive Hazard Release , Case-Control Studies , Child , Gamma Rays , Humans , Intellectual Disability , Mutagenicity Tests , Radiation, Ionizing , Reference Values , Ukraine , Ultraviolet Rays , Variola virus/genetics , Variola virus/radiation effectsABSTRACT
The ability to form the adaptive response in lymphocytes of 23 children, exposed to small radiation doses as the result of Chernobyl accident was studied by hydroxylapatite chromatography of cell lysates. No correlation was found between the ability to form adaptive response and received radiation dose.
Subject(s)
Adaptation, Physiological/radiation effects , Background Radiation/adverse effects , Environmental Exposure/adverse effects , Lymphocytes/radiation effects , Child , DNA/radiation effects , Disease Susceptibility , Dose-Response Relationship, Radiation , Environmental Exposure/statistics & numerical data , Humans , Lymphocytes/physiology , Power Plants , Radioactive Hazard Release , UkraineABSTRACT
The ability of lymphocytes to form an adaptive response in cells of the children which were exposed to small radiation doses during the Chernobyl accident was studied by hydroxyapatite chromatography of cell lysates. Ten children living in the area with high radiation level (Bryansk region) and seventeen children living in the area with natural radiation level (Bryansk region too) were examined. No difference in cell ability to form adaptive response was found in both children group.
Subject(s)
Adaptation, Physiological/radiation effects , Air Pollution, Radioactive/adverse effects , Environmental Exposure/adverse effects , Power Plants , Radioactive Hazard Release , Cells, Cultured , Child , DNA/radiation effects , DNA Damage , Dose-Response Relationship, Radiation , Humans , Lymphocytes/physiology , Lymphocytes/radiation effects , Russia , UkraineABSTRACT
Computer-based genetical register "GENREG" allows to carry out a prophylactic medical examination for families with children, having hereditary diseases, multifactorial pathology and congenital developmental defects of various nature, and also epidemiological examination. Automated consultative system for pre-laboratory diagnosis of genetically determined diseases after the phenotypical manifestations "DIAGEN" allows to identify up to 1200 nosologic units; diagnostic value (or weight) of the signs according to physician's evaluation is taken into consideration. The system sorts out a narrow differential-and-diagnostic row and information about specific laboratory and functional changes for every selected diagnosis. Efficiency of the system is over 94% (after the next laboratory findings). The results of computer diagnosis and final physician's diagnosis, and also questionnaire of a child are stored in archives (files) of the "DIAGEN" system. Both of the systems are realized on PC/AT IBM-compatible computer.
Subject(s)
Databases, Factual , Diagnosis, Computer-Assisted , Genetics, Medical , Registries , Child , Congenital Abnormalities/epidemiology , Congenital Abnormalities/etiology , Diagnosis, Differential , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/epidemiology , Humans , PhenotypeABSTRACT
This article describes computer-based information-and-diagnostic system dealing with child hereditary diseases which makes in possible to organize automated consultative service on a wide range of monogene and chromosome syndromes. The system is oriented for sorting out a narrow differential-and-diagnostic row from 1200 of genetically determined diseases at the stage of pre-laboratory child examination. The choice of diagnoses in the system is based on the analysis of the likeness of phenotypical manifestation of the syndromes described in literature with the case under analysis. The system envisages information exchange with a physician in a dialogue using the natural language. The system is based on IBM-370 computer and can be operated from remote video device in the data TV transmitting mode.
Subject(s)
Expert Systems , Genetic Diseases, Inborn/diagnosis , Child , Diagnosis, Differential , Humans , PhenotypeSubject(s)
Congenital Abnormalities/therapy , Genetic Diseases, Inborn/therapy , Metabolism, Inborn Errors/therapy , Child , Combined Modality Therapy , Congenital Abnormalities/etiology , Congenital Abnormalities/genetics , Genetic Diseases, Inborn/etiology , Genetic Diseases, Inborn/genetics , Hospitals, Special/organization & administration , Humans , Metabolism, Inborn Errors/etiology , Metabolism, Inborn Errors/genetics , MoscowSubject(s)
Klippel-Feil Syndrome/complications , Neck/abnormalities , Platybasia/complications , Scapula/abnormalities , Spine/abnormalities , Synostosis/complications , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Klippel-Feil Syndrome/diagnosis , Male , Platybasia/diagnosis , Syndrome , Synostosis/diagnosisABSTRACT
The results of the activity of the Department for Congenital and Hereditary Diseases of the Moscow Research Institute of Pediatrics and Childhood Surgery of the Ministry of Public Health of the RSFSR point to the efficacy of the work of the Centre for Hereditary Pathology of that Institute in the field of the diagnosis, treatment and prevention of hereditary diseases of children. The prospects of further studies are outlined.
