Anti-fucosyl-GM1 ganglioside IgG and IgM autoantibodies in human serum: no link to pathology.

Anti-fucosyl-GM1 ganglioside antibodies were detected in sera of five persons: four patients with autoimmune neuropathies and more recently, IgG antibodies in one with Graves' disease (Adler et al., Autoimmunity 18, 149-152, 1994) [1]. In the latter case, we were unable to find any relation between the occurrence of antibodies and thyroid disease. Now we report a detailed study on the anti-glycolipid antibodies in this patient. We found that her serum contained not only IgG but also a high level of anti-FucGM1 IgM antibodies, with a titer stable over a period of 5 years of treatment and follow-up. The carbohydrate structure of the epitope recognized by IgG and some of IgM antibodies seems to consist of Fuc-Gal-GalNAc-Gal- or a part of this sequence. Moreover, this patient's serum contained other IgM antibodies active against FucGM1 and also asialo GM1 glycolipids. Our results indicate that anti-FucGM1 ganglioside antibodies of G and M classes occur in serum of this patient with no apparent adverse health effects.

Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation.

Our previous paper presenting electromyographic findings in patients with congenital fiber type disproportion myopathy, confirmed the myogenic character of the disease process. That group of patients was however fairly heterogenous regarding both the clinical features and the morphological changes in muscle fibers (e.g. cases with central cores). In the present study we have examined 13 children with hypotonia and muscle fiber type disproportion operated on in childhood for congenital hip dislocation. In all cases CNEMG and SFEMG with FD estimation was performed in biceps brachii and quadriceps femoris muscles. In all muscles examined either slight EMG changes indicative of myopathy or a normal EMG pattern was found. None of the patients demonstrated an evident increase in FD values. Normal FD and the recruitment pattern proportional to the force of contractures indicate that the normal number of motoneurons is preserved. Accordingly, our present findings confirm the conclusions of our previous paper.

Fiber density in congenital muscle fiber type disproportion. I. Congenital myopathies.

In 15 cases with congenital muscle fiber type disproportion, concentric needle EMG (CNEMG) and single fiber EMG (SFEMG) with fiber density (FD) estimation was performed. The aim of the work was to establish the nature of congenital muscle fiber type disproportion. In 11 cases CNEMG revealed interference pattern on maximal effort and low, polyphasic motor unit action potentials (MUAPs) of short duration indicating a myopathic lesion. In four other cases electromyographic changes were less evident. The FD values were slightly increased in 9 cases. This finding could be explained by pronounced muscle fiber splitting with subsequent ephaptic transmission or even secondary denervation and reinnervation. The most important conclusion from our pilot study is the confirmation of the fact that reinnervation with excessive sprouting is not the only mechanism responsible for muscle fiber type disproportion.

Changes in respiratory muscle function after neostigmine injection in patients with myasthenia gravis.

In sixteen patients with myasthenia gravis, the weakness of respiratory muscles, especially of expiratory, caused some disturbances in lung function. Thirty minutes after injection of neostigmine, general improvement of muscle function was accompanied by an increase of strength and endurance of respiratory muscles. The mean value of maximal inspiratory mouth pressure (PImax) increased by 33%, maximal expiratory mouth pressure (PEmax) by 23.5% and maximal voluntary ventilation (MVV) by 21%. As a consequence of these changes amelioration of lung function indices was found, vital capacity increasing on average by 13% and residual volume decreasing by 12.5%. We concluded that patients with generalized myasthenia gravis have disturbances in lung function which may be partially improved by neostigmine injection or other anticholinesterase agents.

[Spinal cord tumors simulating the clinical course of Charcot-Marie disease]. / Guzy rdzenia imitujace przebiegiem klinicznym chorobe Charcot-Marie-tooth.

The authors describe two cases of extramedullary tumours in the vertebral canal with long (7 and 15 years) course without pains and with clinical manifestations simulating Charcot-Marie-Tooth disease. It is stressed in conclusion that sporadic cases of this disease with involvement of the lower extremities only, with normal conduction velocity in the peroneal nerves should be differentiated against spinal cord tumours situated in the vertebral canal.

Is Kugelberg-Welander spinal muscular atrophy a fetal defect?

Twelve children who had developed Kugelberg-Welander (K-W) spinal muscular atrophy (SMA) before the age of six years were investigated. Electrophysiological, histochemical, ultrastructural, and biochemical studies demonstrated features of immature muscle fibers suggesting a fetal defect as in the Werdnig-Hoffmann (W-H) form of SMA. Comparison with known patterns of human myogenesis and of experimental denervation of immature muscle suggested that the defect in K-W SMA probably takes place in fetal life at a stage later than in W-H SMA. In contrast to W-H SMA, a considerable percentage of mature fibers of normal structure and diameter were present. The immature fibers impair the normal development of muscle cells by preventing the increase in number of mature fibers and causing an overloading of the normal fibers with consequent hypertrophy and eventually destructive changes. This is the pattern in K-W disease that distinguishes the juvenile form of SMA from W-H disease.

[Case of extraocular muscle paralysis with changes of the ragged-red fiber type]. / Przypadek porazenia miesni zewnetrznych oczu ze zmianami typu "regged-red fibers" w miesniach.

The authors describe a case of progressive paresis of the extraocular muscles in a 57-year-old woman followed up since 1974. There were no abnormalities in the biochemical investigations, EEG, EMG, ECG, pneumoencephalography and tests for myasthenia. Only in fragments of the biceps brachii muscle histological and histochemical investigations showed mitochondrial changes of the type of "ragged-red fibres". The authors review the literature pertinent to different syndromes of paralysis of the external eye muscles. This is the first case published in the Polish literature.

Evaluation of results of thymectomy in myasthenia gravis.

The results of thymectomy carried out in 150 cases of myasthenia gravis are discussed. In a group of 123 cases followed for 1 to 5 years after the operation, full remission was observed in 24.4% of cases, significant improvement in 36.6%, slight improvement in 24.4% and no improvement in 8.1%, while deterioration occurred in 1.6% of patients. No correlation was found between the result of the operation and the age and sex of patients, but better results were achieved in those treated surgically rather soon after the onset of symptoms. This correlation was particularly evident in the group with full remissions. The results obtained in the cases without thymic tumors were better than in the cases with tumors. No correlation was noted between the results of the operation and the histological characteristics of the thymus in the group with thymic hyperplasia and in the group with thymic atrophy. The surgically treated group (150 cases), compared with the conservatively treated group (75 cases), showed the superiority of the surgical method (lower rate of death and deterioration, higher rate of improvement and remission). In discussing the indications for surgical treatment the authors emphasize that advances in anaesthesiology in recent years have reduced the risk of operation. It is suggested that the indications for surgical treatment should be expanded and operations should be performed as early as possible after the onset of clinical manifestations without regard to the age and sex of the patient. Operation should not be considered in cases belonging to group 1, 2a (sometimes 2b) only, with duration of the disease over 8-10 years and with little or no progression of the process, if the presence of a thymic tumor has been excluded.

Development of chequerboard pattern in human foetal skeletal muscle.

The study was undertaken to race the histochemical and electron microscopic development patterns of human myogenesis from the 9th to the 26th week of foetal life. Particular attention was paid to the possibility of appearance of metabolic or structural differences between individual skeletal muscle fibres in early periods of myogenesis. The 9th week of foetal life is the period when primitive myotubes are formed. Irregular distribution of the ATPase (pH 9-4) activity observed at this time is due to differences in the structure of fusing myoblasts. The early myotubes show a high activity of the oxidative enzymes and lack of phosphorylase. Conversion of immature muscle cells into structurally mature fibres begins between the 20th and the 24th week. The latter fibres exhibit a uniform activity of all the studied enzymes and thus resemble the intermediate type of fibres of mature muscles. From about the 26th week on the typical mosaic pattern of the enzymatic activity is observed. All the differences in enzymatic activity which appear in fibers prior to their full morphologicaal maturity result from differences in developmental stages of the fibres at the given moment. The present study also suggests that there are no morphological or metabolic differences between individual humanskeletal muscle fibres prior to their metabolic differentiation into types which occurs after their innervation.

Surgical treatment of myasthenia by thymectomy.

From 1967 to 1973 Thymectomies for Myasthenia gravis have been done at the Zakopane Chest Surgery Hospital. Preoperative duration of the disease was some 2 1/2 years. Histological types: Thymoma 6, Thymus persistens 61, malignant lymphatical growth 1. Postoperatively 9 patients had a myasthenic, 6 a cholinergic crisis. These and other respiratory troubles made necessary 14 prolonged intubations and 6 tracheostomies. Depending on the clinical picture small doses of cholinergic drugs were given. Lethality was 1.5%. Long-term results (1/2-6 years p.o.):22.6% needed no drug therapy, and 62.9% only in small doses, 6.5% showed subjective improvement and 6.5% no change.