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Neuromuscular Diseases

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No 2 (2013)
View or download the full issue PDF (Russian)
https://doi.org/10.17650/2222-8721-2013-0-2

LECTURES AND REVIEWS

6-19 1236
Abstract

Botulinum toxin (BoNT) is a bacterial neurotoxin presented with seven serotypes that inhibit neurotransmitter release from nerve endings. The serotypes of BoNT are antigenically dissimilar, act via different, but interconnected mechanisms, and are not interchangeable. The activity of BoNT is associated with impaired neuroexocytosis occurring in several steps: from the binding of BoNT to its specific receptor on the axon terminal membrane to the proteolytic enzymatic cleavage of SNARE substrate. The effect of BoNT is considered to be restricted to the peripheral nervous system, but when given in particularly high doses, it has been recently shown to affect individual brain structures. In addition, by modulating peripheral afferentation, BoNT may influence the excitability of central neuronal structures at both spinal and cortical levels. Only BoNT serotypes A and B are used in clinical practice and aesthetic medicine. The type A has gained the widest acceptance as a therapeutic agent for more than 100 abnormalities manifesting themselves as muscular hyperactivity, hyperfunction of endocrine gland, and chronic pain. The effect of BoNT preparations shows itself 2-5 days after injection, lasts 3 months or more, and gradually decreases with as a result of pharmacokinetic and intracellular reparative processes. Biotechnology advances and potentialities allow purposefully modification of the protein molecular structure of BoNT, which expands the use and efficiency of performed therapy with neurotoxins. Recombinant technologies provide a combination of major therapeutic properties of each used BoNT serotype and expand indications for recombinant chimeric toxins.

20-26 865
Abstract

Low back pain (LBP) is one of the most common clinical syndromes associated with the high rate of temporary disability and sizable material costs. The choice of adequate therapy for LBP requires that primary diseases that can be responsible for the occurrence of pain should be excluded. While choosing an analgesic, there must be a balance between its efficacy and the possible risk for undesirable side effects. One of the drugs that have proven effective in treating patients with LBP is ketoprofen (ketonal), the diversity of whose formulations allows maximally individualized therapy.

27-34 1176
Abstract

The paper considers techniques for the neurophysiological diagnosis of radiculopathies, such as needle electromyography, motor and sensor nerve, F-waves, and H-reflex studies. Data on the sensitivity of the used methods are presented. Recommendations for neurophysiologists are given with regard to the specific features of different methods and the interpretation of results.

ORIGINAL REPORTS

35-38 891
Abstract

Peripheral neuromuscular apparatus lesion is a common complication of chronic alcohol intoxication. Alcohol-induced skeletal muscle disease
is least studied now. A comprehensive clinical, neurophysiological, and morphological examination was made in 42 patients with chronic alcohol
intoxication during this study. All the patients underwent skeletal muscle biopsy followed by muscle fiber morphometry. There was both selective type 2 muscle fiber atrophy and diffuse types 1 and 2 muscle fiber atrophic changes. The clinical manifestations of skeletal muscle disease corresponded to the degree of an atrophic process. There was impairment in the main components of protein synthesis at both intracellular and systemic regulation levels.

39-44 1094
Abstract

A comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2I
types and LGMD those patients who have mutations in CAPN3 and FKRP was detected. The absence of a particular symptom, allowing for the
differentiation of these genetic variants on clinical level. An algorithm for molecular genetic investigation of patients according to age at onset and some clinical symptoms. The proposed algorithm can significantly reduce the economic and time costs during expensive standing DNA analysis.

CLINICAL DISCUSSION

45-52 13588
Abstract

Dercum’s disease (Dercum’s syndrome, neurolipomatosis) is a rare and inadequately studied chronic disease that is characterized by subcutaneous fatty deposits in different parts of the trunk and accompanied by compression-ischemic neuropathy of the cutaneous branches of peripheral nerves with pain syndrome, pathological fatigue, and obesity. The most common site of subcutaneous deposits is the upper extremities, elbows, anterior abdominal wall, buttocks, thighs, and knees. However, Dercum’s disease is systemic and can be manifested by a wide range of symptoms and it frequently recurs, including after surgical removal of lipomas. The paper presents a case of the late diagnosis of neurolipomatosis in a 23-year-old male. It considers the etiology, pathogenesis, and diagnosis of the disease and current approaches to its treatment. A better understanding of the characteristic clinical syndrome of painful lipomatosis will assist in the early diagnosis of the disease and in the prevention of inadequate therapy cases.

CONFERENCES, SYMPOSIUMS, MEETINGS



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ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)