[DNA-diagnosis of carriers of the Duchenne muscular dystrophy gene]. / DNK-diagnostika nositel'stva gena miodistrofii diushenna.

Duchenne muscular dystrophy carrier detection has been performed by using probes XJ1.1 (intragenic probe) and probe 754 for a girl. The carrier probability was estimated by means of a computer program GenRisk combining pedigree and DNA-probe data and turned out to be 95%.

[Prenatal DNA-diagnosis of Duchenne muscular dystrophy]. / Prenatal'naia DNK-diagnostika miodistrofii Diushenna.

Two prenatal diagnoses were carried out by the technique of intragenic polymorphous marker detecting heterozygosity in pregnant women in the families with cases of Duchenne muscular dystrophy. In both cases the DNA fragment from pERT87-15 region was amplified. This fragment includes a polymorphous site in BamHI region of recognition. DNA analyses of the families members have been made and the genetical risk has been calculated by the Bayes method. The prognoses for both fetuses are good.

[Rare case of mosaicism for chromosome 18, karyotype: 46, XX, del(18) (p11)/46, XX, i(18q)]. / Redkii sluchai mozaitsizm po khromosome 18, kariotip: 46, XX, del(18) (p11)/46,XX, i(18q).

Rare mosaicism of chromosome No 18 is described. The proposita is 5.5 years old and has two cell clones: 50% of cells are monosomic for 18p and 50% have isochromosome i18q. The ratio of these clones (1:1) is found to be similar at the age of the proposita 2.5 and 5.5 years. The proposita has some phenotypic characters of both 18p- (ptosis, epicanthus, deformed carious teeth, falled back sternum etc.) and trisomy 18q (contraction of external auditory meatus, femur luxatus congenitus etc.) syndromes. A possible mechanism for the origin of such a mosaicism is discussed.

[Mosaic variant of the translocation form of syndrome 18q-]. / Mozaichnyi variant translokatsionnoi formy sindroma 18q-.

A mosaic form of 18q-syndrome is found, apparently due to de novo translocation at the early stages of embryogenesis. About 60 per cent of cells have disbalanced chromosome set as a result of translocation between chromosomes 13 and 18 and the loss of chromosome regions 13q11 and 18q23, the rest 40 per cent of cells being normal. Clinical features of the proposita are supposed to be conditioned mainly by the loss of the chromosome protein 18q23. Deviations from a classic pattern of the syndrome may be explained by the loss of a proximal part of chromosome 13 and by the mosaic status of abnormality. The case described is considered as a unique translocation and a rare mosaic form of the 18 q-syndrome.

[Pathogenesis and diagnosis of progressive neuromuscular diseases]. / K probleme patogeneza i diagnostiki progressiruiushchikh nervno-myshechnykh zabolevanii.

On the basis of literary data and his own observations the author discusses the mechanisms of the development of progressing muscular dystrophies and methods of their diagnosis. A critical analysis of the principal modern concepts of the origin of the progressing myodystrophies (the myogenic, membrane, vascular, connective-tissue, and neurogenic ones) is presented. The results of biochemical diagnostic tests are summed up, and the importance of examining various enzymes for the verification of the disease early stages is stressed.

[Risk factors and the prevention of early organic brain lesions]. / Faktory riska i profilaktika rannikh organicheskikh porazhenii mozga.

The article deals with those risk factors which play the most significant role in the development of early organic lesions of the brain. Particular attention was paid to teratogenic influence on the fetus in the intrauterine period and during parturition. The authors have outlined the main measures for preventing intrauterine and intrapartal lesions to the nervous system and formulated the priority tasks facing researchers in this area. These are as follows: limitation of pathological impacts on the fetus, improvement in antenatal diagnosis and obstetrical methods, and the development of the differential methods of intensive care of newborns and of the diagnosis and treatment of nervous system impairments at early stages of their development. Development of a comprehensive programme involving representatives from different branches of medical science is considered necessary.

[Problems of perinatal neurology]. / Problemy perinatal'noi nevrologii

An analysis of more than 1000 cases of early organic brain lesions has demonstrated that in 54% of them the etiology of neurological disturbances was an antenatal pathology, in 38%-intranatal and in 8%-postnatal. The prevention of perinatal disorders of the nervous system is considered as a complex problem including measures of health prevention for the future mothers, control over the development of pregnancy, perfection of obstetric aid, effective measures for the prevention of tissue hypoxia and its sequalae, elaboration of methods of rehabilitative therapy, work with personnel.

[Problems in antenatal neurology]. / Problemy antenatal'noi nevrologii.

This is a review of the current state of research in the area of antenatal diagnosis and prevention of nervous system diseases. The author assesses the diagnostic value of the cytogenetic, biochemical and immunological methods of analysis of the amniotic fluid as well as the role of fetal ultrasonography in detecting intrauterine damage to the nervous system. The problem of the influence of adverse factors during antenatal ontogenesis is reviewed from the contemporary point of view. Much attention is given to the effect on the fetus of the drugs used by the pregnant woman. The cardinal tasks facing investigators working in the field of the early ontogenesis of the nervous system are also formulated.

[Electroneuromyography in pediatric clinical neurology]. / Elektroneiromiografiia v detskoi nevrologicheskoi klinike.

The diagnostic effectiveness of electroneuromyography in nervous and neuromuscular diseases at various periods of childhood is analyzed. The electroneuromyographic characteristics of the "floppy child" syndrome, natal traumatic humeral plexitis, syndromes of the strio-pallidar system affection and neuromuscular diseases are presented with reference to age.

[Multiple traumatic intracranial hematomas in children]. / Mnozhestvennye travmaticheskie vnutricherepnye gematomy u detei.

Of 32 children with traumatic intracranial hematomas 11 had multiple hematomas. The latter were characterized by a faster development of the compression syndrome with signs of intracranial hypertension and secondary stem symptoms. "Clear intervals" were more frequent in children than adults. Computer-aided tomographic examination is a valuable method in the diagnosis of multiple hematomas.

[Current problems of alcoholic embryo- and fetopathy]. / Sovremennye problemy alkogol'noi émbrio- i fetopatii.

The authors consider the least studied questions of alcoholic embryo- and fetopathy in the mechanism of the teratogenic action of alcohol on the development of the embryo and fetus and emphasize the importance of the time of damage, genotype, and additional effects of the environment. On the basis of analysis of the literature and their own data the authors have identified the most important manifestations of the fetal alcohol syndrome at different stages of the child development. The questions of the differential diagnosis are also discussed.

[Lipid metabolism disorder in ataxia-telangiectasia]. / Narushenie obmena lipidov pri ataksii-teleangiéktazii

A clinico-morphological study of ataxia-teleangiectasia permits to establish the depth and distribution of lesions. Morphological findings indicate to lesions mainly in the extrapyramidal system, cerebellum, subcortical structures and in the stem structures and spinal cord. Besides, there were changes in the hemispheres in the form of cell atrophy, demyelinization, degeneration and gliosis. Demyelinization was found in the posterior and lateral columns of the spinal cord; in the extrapyramidal conductive paths. A study of lipid metabolism in 14 patients with ataxia-teleangiectasia also demonstrated an increase of lipid content in myelin, free cholesterol, etherconnected cholesterol, triglycerides and diglycerides in the plasma. There was a correlation between the degree of the nervous system demyelinization and an increased level of the main fractions in the lipid spectrum. In some patients following a transplantation of a neonatal thymus-sternum complex there was a drop in the previously increased content of the lipid fractions. The authors discuss some problems of the pathogenesis of ataxiateleangiectasia.

[Minimal brain dysfunction in children (neurologic aspect)]. / Minimal'naia mozgovaia disfunktsiia u detei (nevrologicheskii aspekt).

The paper contains some data of a dynamical study of 108 children with early organic brain lesions. Starting from the neonate period, in 29 cases (26,8%) there was a stable focal neurological symptomatology, in 42 (38,9%)--symptoms of neuropsychic abnormalities were not found. In 37 cases (34,3%) there was a neurological and psychopathological symptomatology, typical for minimal brain dysfunction. The studies indicate a certain role of the organic factor in the etiology and clinical signs of minimal brain dysfunction in infants. The conclusion is made that there is a necessity for a thorough neurological examination of infants with pathology in the perinatal period with slight neurological changes or considered to be practically normal. Early treatment and prevention of clinical signs in minimal brain dysfunction is stressed.

[Treatment of progressive muscular dystrophy]. / Lechenie bol'nykh progressiruiushchei myshechnoi distrofiei

The paper summarizes experience in treating 306 patients with progressive muscular dystrophy during different phases of the disease. The treatment was made with due consideration for a disturbed protein metabolism, a decreased permeability of the membrane in muscular filaments, a normalization of the metabolic product supply from the blood, improvement of the blood flow and cardio-vascular and respiratory insufficiency. The treatment was carried out in the form of a continuous use in in- and out-patient conditions of a session of anabolic hormones, vascular dilatative drugs, anticholinesterase preparations, amino acids, vitamins, drugs facilitating the cardio-vascular and respiratory activity. Besides, the patients were treated by oxygenobarotherapy, muscular electrostimulation by currents of sound frequencies, remedial gymnastics, massage, hypdrotherapy, etc. The authors propose typical treatment complexes. A follow-up study of patients who received a full course of therapy during three years demonstrated its effectiveness which was expressed by the absence of clinical signs of progressiveness.

[Rate of excitation spread along a peripheral nerve in healthy infants in the 1st year of life and in infants who have had intrauterine hypoxia and asphyxia at birth]. / Skorost' rasprostraneniia vozbuzhdeniia po perifericheskomu nervu u zdorovykh detei pervogo goda zhizni i u detei, perenesshikh vnutriutrobnuiu gipoksiiu i asfiksiiu pri rozhdenii.

The velocity in the extension of excitation through the peripheral nerves was studied in 99 normal babies of the first year and in 135 children with intrauteral hypoxia and asphyxia during delivery. In children with perinatal lesions of the CNS there were changes in the absolute volumes of the velocity of excitation and the rate of its increase compared with the group of normal children. The data correlate with the results of histological studies of the peripheral nerve.

[Clinical systematization and diagnosis of polyneuropathies]. / O klinicheskoi sistematizatsii i diagnostike polinevropatii.

The authors proposed a working scheme for the clinical classification of polyneuropathies according to which the latter ones are divided into primary idiopathic and combined hereditary forms, and secondary ones resulting from infectious, toxic, vascular, metabolic, and physical factors. The authors also worked out the clinical and electroneuromyographic criteria for the diagnosis (including the differential one) of the following disorders: Charcot-Marie's neural amyotrophy, the Roussy-Levy syndrome, sensory polyneuropathy with acroosteolysis, toxic vegetative polyneuropathies, and secondary lesions of the peripheral nervous system in patients with diabetes mellitus and collagenous diseases.

[Static disorders in hereditary ataxias]. / Staticheskie narusheniia pri nasledstvennykh ataksiiakh.

Static disorders elicited by the adequate methods of the assessment of equilibrium (stabilography) and gait (plantography) in hereditary ataxias have been analyzed. These techniques of examination make it possible to quantitatively estimate motor disorders, supplement clinical findings and provide an opportunity for objective evaluation of the efficacy of the conducted therapy.

[Febrile convulsions: diagnosis, treatment and ambulatory follow-up]. / Febril'nye sudorogi: diagnostika, lechenie, dispansernoe nabliudenie.

The authors review the current aspects of the etiology and pathogenesis of febrile seizures, hereditary predisposition to the given state. Give a detailed description of the problems of the diagnosis and differential diagnosis of febrile seizures, their outcomes, possibilities of transformation to epilepsy. Special attention is paid to different approaches to the drug treatment of children suffering from febrile seizures as well as to the problems of the children's follow-up.

[Effect of testenate in the treatment of epilepsy in men]. / Izuchenie éffekta testenata v lechenii épilepsii u muzhchin.

The paper is concerned with the mechanisms of the effect of hormones on convulsive preparedness of the brain. A study was made of the effect of the androgenous hormonal drug testenat on the clinical course of epilepsy. Testenat was found to be an effective drug decreasing the rate of epileptic seizures, transforming generalized convulsive attacks to partial, reducing the gravity and duration of the ++post-paroxysmal period. The mechanisms by which testenat affects the bioelectric activity of the brain at the cellular level are under discussion.

[Problems of classification of cerebral palsy in childhood]. / Voprosy klassifikatsii detskikh tserebral'nykh paralichei.

The article summarizes the results of many-year studies of the authors in the field of research into childhood cerebral paralyses, which have made it possible to introduce some alterations in the classification of this disease used in the USSR.