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Biomedical subjects

L O Badalian

Publications and source records attributed to L O Badalian.

At least 19 recordsLinked to original sources
PubMed1992

[Infantile facioscapulohumeral muscular dystrophy].

The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.

Adolescent↗
PubMed1991

[The preclinical DNA diagnosis of Huntington's chorea].

Presymptomatic DNA diagnosis of Huntington's chorea (HC) was made for two sons of a patient affected with the disease using amplification of the DNA fragment in the area of locus G 8 linked with HC gene. That fragment contains a polymorphous site in the area of restrictase recognition Hind III, being of information value as regards the family under examination. The familial analysis with the use of the DNA diagnosis data makes it possible to exclude the inheritance of HC gene for both the sons of the patient with a probability of 96%.

Adolescent↗
PubMed1991

[A benign variant of the course of Duchenne muscular dystrophy in a child with short stature].

The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.

Child↗
PubMed1991

[Congenital autosomal-recessive familial spastic paraplegia].

The authors describe a family living in the Dagestan where three relative sibs, girls, suffered from familial spastic paraplegia. The variety described is marked by early debut, pronounced intrafamilial polymorphism of the disease course, autosomal recessive type of inheritance which, according to the reported data, is marked by frequently occurring combination with damage to other organs and systems (the familial spastic paraplegia "plus"). The "pure" disease variety seen in autosomal recessive type of inheritance, detection of the disease symptoms since the birth indicate that the case in question is a rare clinical variety of familial spastic paraplegia.

Child↗
PubMed1991

[Effect of testenate in the treatment of epilepsy in men].

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.

Adult↗
PubMed1991

[Rapidly progressing facio-scapulo-humero-femoro-peroneal muscular dystrophy with sensorineural deafness].

The paper concerns a family in which father and sibs (two brothers and a sister) suffered from rapid-progressing myodystrophy. Clinically, the disease was marked by a debut in the pubertal period (at 12 to 13 years), derangement of the muscles of the limb girdles, proximal parts of the legs and arms, and distal parts of the legs. The given case was also characterized by the impairment of the cervical and facial muscles as well as by associated neuromuscular lesions and neurosensory hypoacusis. The case described supports the clinical pleomorphism of the facial scapulohumeral form of Landouzy-Dejerine myopathy.

Adolescent↗
PubMed1991

[A familial form of progressive muscular dystrophy with multiple contractures of the major joints].

The paper treats of a case of progressive myodystrophy coupled with multiple contractures of the large joints. In an Uzbek family placed under observation and living in the Uzbek SSR, the disease was revealed in 3 members of the family (in mother and two children). Contractures of the large joints grew on parallel with the myodystrophic process. The pattern of myodystrophy seen in the family was characterized by a number of unusual clinical features and by pronounced clinical pleomorphism. The differences of the clinical manifestations within the family lay in variability of the debut, localization and intensity of the contractures, and in the rate of the myodystrophy course.

Adolescent↗
PubMed1991

[A clinico-neurophysiological analysis and the treatment problems of the crush syndrome (based on data from the earthquake in Armenia)].

Overall 350 patients with the crush syndrome were examined. It has been shown by the clinico-neurological investigation that in long compression of the limbs followed by the development of the crush syndrome, sensitive fibers and the membrane of the axon are most of all exposed to unfavourable effects. The changes discovered as a result of the clinically intact nerves point to the diffuse impairment of the peripheral neuromotor apparatus in patients with the crush syndrome.

Armenia↗
PubMed1991

[Neuropsychological disorders in vitamin B 12 deficiency].

Vitamin B12 deficiency is often attended by neuropsychic disorders. In the geriatric population, the level of vitamin B12 is mostly reduced. However, the clinical manifestations and pathogenesis are not completely specified. The authors describe a female patients in whom vitamin B12 deficiency was coupled with manifest neuropsychic disorders. Provide a detailed depiction of the clinical status, the disease course and laboratory findings. Relate the most typical neuropsychic manifestations of vitamin B12 deficiency.

Ataxia↗
PubMed1991

[Prenatal DNA-diagnosis of Duchenne muscular dystrophy].

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.

Base Sequence↗
PubMed1991

[Hyperbaric oxygenation in the treatment of compression mononeuropathies].

105 patients with compression mononeuropathies were divided into 2 groups by duration of HBO performed under an original method. The effect of HBO treatment was assessed by changes in neurological symptoms and positive trend on ENMG. The most appreciable response was obtained in acute disease treated by 4-session short course. Longer courses of VIII-X sessions were less efficient.

Humans↗