Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy.

Duchenne muscular dystrophy (DMD) is one of the most common forms of hereditary muscular dystrophies in childhood and is characterized by steady progression and early disability. It is known that physical therapy can slow down the rate of progression of the disease. According to global recommendations, pool exercises, along with stretching, are preferable for children with DMD, as these types of activities have a balanced effect on skeletal muscles and allow simultaneous breathing exercises. The present study aimed to evaluate the effectiveness of regular pool exercises in patients with Duchenne muscular dystrophy who are capable of independent movement during 4 months of training. 28 patients with genetically confirmed Duchenne muscular dystrophy, who were aged 6.9 ± 0.2 years, were examined. A 6-min distance walking test and timed tests, namely, rising from the floor, 10-meter running, and stair climbing and descending, muscle strength of the upper and lower extremities were assessed on the baseline and during dynamic observation at 2 and 4 months. Hydrorehabilitation course lasted 4 months and was divided into two stages: preparatory and training (depend on individual functional heart reserve (IFHR)). Set of exercises included pool dynamic aerobic exercises. Quantitative muscle MRI of the pelvic girdle and thigh was performed six times: before training (further BT) and after training (further AT) during all course. According to the results of the study, a statistically significant improvement was identified in a 6-min walking test, with 462.7 ± 6.2 m on the baseline and 492.0 ± 6.4 m after 4 months (p < 0.001). The results from the timed functional tests were as follows: rising from the floor test, 4.5 ± 0.3 s on the baseline and 3.8 ± 0.2 s after 4 months (p < 0.001); 10 meter distance running test, 4.9 ± 0.1 s on the baseline and 4.3 ± 0.1 s after 4 months (p < 0.001); 4-stair climbing test, 3.7 ± 0.2 s on the baseline and 3.2 ± 0.2 s after 4 months (p < 0.001); and 4-stair descent test, 3.9 ± 0.1 s on the baseline and 3.2 ± 0.1 s after 4 months (p < 0.001). Skeletal muscle quantitative MRI was performed in the pelvis and the thighs in order to assess the impact of the procedures on the muscle structure. Muscle water T2, a biomarker of disease activity, did not show any change during the training period, suggesting the absence of deleterious effects and negative impact on disease activity. Thus, a set of dynamic aerobic exercises in water can be regarded as effective and safe for patients with DMD.

[The efficacy and safety of kinesytherapy in Becker muscular dystrophy]. / Effektivnost' i bezopasnost' kinezoterapii pri myshechnoi distrofii Bekkera.

Becker muscular dystrophy (BMD) is inherited X-linked neuromuscular disease characterized by progressive fatigue, atrophy, hypotonia and muscle weakness, that is predominantly located in muscles of pelvic girdle, femurs and lower leg. There are only singular studies at present showing the efficacy of different training programs for patients with muscular dystrophy, and there are no recommendations allowing to detect the optimal motor regimen, that is effective and safe for such patients. OBJECTIVE: To evaluate the efficacy of regular dynamic aerobic exercises in children with BMD, who are able to self-sustained movement. MATERIAL AND METHODS: The number of patients equal 13 with genetically confirmed BMD at the age from 8.9 to 15.9 years were examined. All patients took the course of exercise therapy for 4 months. The course was divided into 2 stages: the preparative (51-60% of the individual functional reserve of the heart (IFRH) with 6-8 repetitions of every exercise) and the training (61-70% of the IFRH with 10-12 repetitions of every exercise). The training duration was 60 min. The motor capabilities of patients were assessed by the 6-minute walk test, timed up & go test, MFM scale (sections D1, D2, D3) at the initial stage and during dynamic observation after 2 and 4 months. RESULTS: Statistically significant positive dynamics of indicators was revealed. The average distance in the 6-minute walk test at the initial stage was 526.9±12.7 m, after 4 months was 545.2±13.0 m (p<0.05). The average uplift time at the initial stage was 3.9±0.2 s, after 2 months was 3.5±0.2 s (p<0.05). The average running time for the distance of 10 m initially was 4.3±0.1 s, after 2 months was 3.8±0.1 s (p<0.05), after 4 months was 3.8±0.1 s (p<0.05). There was some positive dynamics in the evaluation of uplift and movement capabilities (D1) by the MFM scale: initially the indicator was 87.7±1.5%, after 2 months - 93.4±1.4% (p<0.001), after 4 months - 94.5±1.3% (p<0.001). Clinically significant adverse effects were not registered during the training courses. CONCLUSION: Aerobic trainings without weight combined with exercises on a cycle machine for 4 months allow to improve movement capabilities and are not characterized by clinically significant adverse effects in children with BMD.

[Facioscapuloperoneal muscular dystrophy: correlation between a phenotype and genotype].

Thirty four symptomatic and 17 presymptomatic (PS) patients from 21 autosomal dominant facioscapuloperoneal muscular dystrophy (FSPMD) families were found by the probe p13E-11 and enzymes EcoRI/BlnI to have DNA fragments size (DFS) between 13-35 kb (double digestion) and in other 8 PS patients - 37-39 kb, in one PS woman - 45 kb caused by deletion related to the disease and linked with chromosome 4q35. In all the families which had the same or different DFS ranging between 13-35 kb we observed similar clinical variability of phenotypes (the static muscle pattern), the severity of the disease (SD) and daily-life work disability (LD) in the families and between the families. We found no significant correlation between DFS and the phenotype, DFS and the age at onset of the disease, DFS and SD, DFS and LD. Thus, it is confirmed that the probe p13E-11 can be used for detecting DFS between 13-35 kb (or 37 kb) (double digestion) for FSPMD which are assigned with chromosome 4q35. However, in patients with typical FSHD the 4q35-linked EcoRI fragment detected by p13E-11 is usually shorter than 38 kb. Therefore, we believe that the detected DFS cannot be the criterion for establishing genetic heterogeneity of FSHD. It is possible that FSPD and FSHD are allelic diseases.

[Lower motor neuron diseases with predominantly upper limbs affection: are they independent forms or atypical variants of amyotrophic lateral sclerosis?].

We carried out an analysis of 5 sporadic cases of lower motor neuron disease with predominant affection of the proximal parts of arms in 2 patients and distal parts in 3 patients. From clinical point of view, our own observations, along with similar cases reported in the literature with predominantly affected upper limbs, different progression of the disease and denervation changes during needle EMG, can argue for clinical heterogeneity of lower motor neuron disease. There were some difficulties in establishment of a differential diagnosis between atypical variants of amyotrophic lateral sclerosis ("flail arm" syndrome) and primary muscular atrophy of adults at the early stages of the disease. We suppose that atypical variants of amyotrophic lateral sclerosis resultant from affection of lower motor neuron only ("flail arm" syndrome and distal amyotrophy), could be distinguished from amyotrophic lateral sclerosis and considered as an independent entity.

[The effect of interleukin-2 on interferon production by human lymphocytes and the importance of this test in autoimmune diseases]. / Izuchenie vliianiia interleikina-2 na produktsiiu interferona limfotsitami cheloveka i znachenie etogo testa pri autoimmunnykh zabolevaniiakh.

Interleukin-2 (IL-2) was demonstrated to induce interferon (IFN) production in the cultured lymphocytes from healthy donors and myasthenia gravis (MG) patients. Moreover, IL-2 enhanced lymphocytic IFN production in patients and healthy individuals in response to phytohemagglutinin and concanavalin A. However, in MG patients, IFN production in response to IL-2 alone or in combination with mitogens is several times lower than that in healthy donors. This lowered IFN production in MG patients is accompanied by much higher rates of lymphocytic proliferation and by considerably enhanced spontaneous lymphocytic production of C-reactive protein as compared with healthy individuals. This test may be of great value in establishing the diagnosis of an autoimmune disease, in defining its severity and in evaluating the efficiency of therapy.

Clinical variability of facioscapulohumeral muscular dystrophy in Russia.

One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of the disease, namely the facio-scapulo-humero-peroneal-femoro (posterior group of the muscles)-gluteal (gluteus maximus). Thus, the clinically and genetically homogeneous group of patients with autosomal-dominant descending with a "jump" form of facioscapulohumeral dystrophy (FSHD), called facioscapuloperoneal dystrophy (FSPD), was examined. Among the observed cases we did not come across any having the autosomal-dominant gradually descending form of FSHD, called facioscapulolimb dystrophy (FSLD), in which the pelvic and proximal lower limb muscles get weak earlier than in the peroneal group (anterior tibial) muscles. We could not reveal the "pure" facioscapulohumeral phenotype of muscle weakness in 142 examined patients. A "pure" FSHD does not exist as a nosological entity. It represents only the syndrome which characterizes the initial phase of FSLD, but not of the FSPD. It is quite probable that FSPD and FSLD which may be differentiated clinically are two different diseases connected with the mutation of allelic or even different genes. Linkage studies in FSPD and FSLD mapping genes would confirm this data.

Clinical variability of facioscapulohumeral muscular dystrophy in Russia.

One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of the disease, namely the facio-scapulo-humero-peroneal-femoro (posterior group of the muscles)-gluteal (gluteus maximus). Thus, the clinically and genetically homogeneous group of patients with autosomal-dominant descending with a "jump" form of facioscapulohumeral dystrophy (FSHD), called facioscapuloperoneal dystrophy (FSPD), was examined. Among the observed cases we did not come across any having the autosomal-dominant gradually descending form of FSHD, called facioscapulolimb dystrophy (FSLD), in which the pelvic and proximal lower limb muscles get weak earlier than in the peroneal group (anterior tibial) muscles. We could not reveal the "pure" facioscapulohumeral phenotype of muscle weakness in 142 examined patients. A "pure" FSHD does not exist as a nosological entity. It represents only the syndrome which characterizes the initial phase of FSLD, but not of the FSPD. It is quite probable that FSPD and FSLD which may be differentiated clinically are two different diseases connected with the mutation of allelic or even different genes. Linkage studies in FSPD and FSLD mapping genes would confirm this data.

[Electromyography in the evaluation of the functional state of the internal neuromuscular apparatus of the larynx in myasthenia]. / Elektromiografiia v otsenke funktsional'nogo sostoianiia vnutrennego nervno-myshechnogo apparata gortani pri miastenii.

Using needle transcutaneous electromyography of internal laryngeal muscles and kalymin tests, 40 patients with myasthenia of different forms were examined. It was found that patients with generalized and local pharyngeal-facial forms of the disease developed latent generalization of myasthenic injury. Characteristic changes can be used to determine the degree of disorders in the internal nervous-muscular apparatus of the larynx.

[Laser correlation spectroscopy of the blood serum in assessing the efficacy of hemosorption with myasthenia patients]. / Lazernaia korreliatsionnaia spektroskopiia syvorotki krovi v otsenke éffektivnosti gemosorbtsii u bol'nykh miasteniei.

In 30 patients with myasthenia the authors studied the dynamic of changes of subfraction content of the blood serum using the method of laser correlation spectroscopy. Significant changes of the blood serum homeostasis have been revealed in the process of hemosorption. The obtained results make it possible to develop objective criteria for indications to hemosorption as well as for the assessment of the efficacy of therapy.

[The characteristics of the oxygen-transport function of hemoglobin in myasthenia patients]. / Osobennosti kislorodtransportnoi funktsii gemoglobina u bol'nykh miasteniei.

A study is presented of the oxygen-transport function of hemoglobin in 50 patients suffering of myasthenia. Age of the patients: from 18 to 70 years. The patients showed increased level of the erythrocytic 2,3-DPG which is a sensitive index of the state of tissue oxygenation and changes of the kinetics of oxygen by hemoglobin. The obtained results permit to evaluate the mechanisms of development of respiratory insufficiency in patients with myasthenia, favours adequate assessment of the severity grades of the disease, help to plan pathogenetic treatment.

Comparison of HLA antigen spectrum in atherosclerosis of various localization.

The spectrum of HLA antigens was studied in 619 control subjects and 357 patients with atherosclerosis of various localization (coronary, cerebral, and lower limbs arteries). Comparative analysis has shown both agreement and differences to exist between patient groups depending on atherosclerosis localization. Significant differences were also found in the level of various lipid components. A relationship between HLA antigens and lipid markers was demonstrated, especially between locus B and C antigens and HDL cholesterol level. The authors believe the findings can be utilized to determine predisposition to atherosclerosis of various localization.

[Indicators of lipid peroxidation and erythrocyte membrane permeability in patients with myasthenia gravis]. / Pokazateli perekisnogo okisleniia lipidov i pronitsaemost' éritrotsitarnykh membran u bol'nykh miasteniei.

Twenty-five patients suffering from myasthenia with no thymectomy were examined for lipid peroxidation (LPO) and erythrocytic membrane permeability. A study was also made of spontaneous and induced LPO, the level of diene conjugates and permeability of the erythrocytic membranes in mixtures of isotonic urea and sodium chloride solutions of varying volumetric concentrations. LPO activation which was coupled with an increase of erythrocytic membrane permeability was revealed. The data obtained point to the impairment of membrane apparatus function in patients with myasthenia and allow recommending the use of the membrane-stabilizing therapy.

[Myasthenic crises]. / Miastenicheskie krizy.

The authors analyze the course of myasthenia complicated by the development of the myasthenic crisis, provide the data obtained over the recent 5 years by the clinic of nervous diseases of the Leningrad Institute of Advanced Medical Training, review the causes leading to the development of the myasthenic crisis, its clinical manifestations, discuss the problems of the diagnosis and treatment.

[Lambert-Eaton myasthenic syndrome in bronchogenic carcinoma]. / Miastenicheskii sindrom Lamberta-Itona pri bronkhogennykh kartsinomakh.

Six patients with Lambert-Eaton myasthenic syndrome were analyzed for the character of the initial symptoms, the clinical course and typical lesions on electrophysiological and x-ray studies. The given myasthenic syndrome often anticipates tumor symptoms and patients, as a rule, are seen for a long time by neuropathologists with a diagnosis of myasthenia. The data of ours indicate a real opportunity of the use of neurological and electromyographic criteria for goal-oriented search of bronchogenic carcinoma at the earlier stages of its development.