Development and validation of the Myasthenia Gravis TeleScore (MGTS).

OBJECTIVE: The aim of our study was to validate the Myasthenia Gravis TeleScore (MGTS), a scale for the evaluation of MG patients in telemedicine. INTRODUCTION: COVID-19 pandemic has boosted telemedicine in clinical practice. It could be crucial in the care of neurological patients with chronic disease. However, there is a lack of validated disease-specific tools to evaluate MG patients in telemedicine. METHODS: The MGTS included ten items divided in four districts: ocular, generalized muscular strength, bulbar, and respiratory. Patients were assessed with two different scales: the MGTS and the INCB-MG chosen as a reference from which MGTS was partially derived. Visit in presence with INCB-MG and televisit with MGTS were performed consecutively. Televisit was conducted by another neurologist between two rooms. A blind method was adopted. The strength of correlation was determined by the correlation coefficient (r); analysis of covariance (ANOVA-Kruskal-Wallis test) was used to compare subgroups. Significance was set to p < 0.05. RESULTS: One hundred thirty-one patients were included in the study, 71 females and 60 males. The Spearman correlation coefficient between the INCB-MG scale and the MGTS was 0.825 (p < 0.001), indicating a very strong correlation between them. Different items showed different correlations from low to high (0.32 to 0.80). As expected, correlation was lower between items with different evaluation modality (anamnestic vs clinical). DISCUSSION: The MGTS demonstrated a good correlation with INCB-MG, reliability and construct validity.

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy.

BACKGROUND: Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable. AIMS: To investigate whether glucocorticoid receptor (GRL) gene polymorphisms may be responsible for glucocorticoid sensitivity in DMD. METHODS: Forty eight DMD patients treated either with prednisone or deflazacort were subjected to genetic analyses of the GRL gene. RESULTS: Mutation studies revealed an heterozygous A to G mutation at GRL cDNA position 1220 in three DMD patients resulting in an asparagine to serine amino acid change at amino acid position 363 (N363S). The N363S carrier DMD patients showed a trend towards a later age at loss of ambulation in comparison with non-carrier patients. CONCLUSIONS: These data suggest that the N363S GRL polymorphism may be implicated in the long term response to glucocorticoids.

Quality of neurology residency programmes: an Italian survey.

In recent years there has been a growing interest in medical and particularly neurological education and how this should be related to the needs for patient care. To evaluate neurological training in Italy, we conducted a survey of the residency programmes aimed at different aspects of training. The survey was conducted in the 38 neurological Italian teaching hospitals and 27 of these answered. Six of the 27 centres organized all of the scheduled teaching courses. The quality of courses was considered 'not sufficient' in 11 schools and 'good' in 12. Seminars were regularly performed in 18 centres but in 60% of these the number was <1 per week. Questionnaires to evaluate the quality of teaching were lacking in all centres. Regarding the procedures performed by each resident there was a large variation between the different schools. A regular rotation of each resident in the neurophysiology services was performed in 14 schools. Ward and out patient activity varied widely and details are given. We conclude that there is marked heterogeneity in training programmes between different centres. Some important activities such as seminars and rotation in neurophysiology are performed poorly.

Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents.

PURPOSE: To evaluate the incidence and entity of muscle damage after hyperthermic limb perfusion (HLP) with doxorubicin or melphalan, two widely used chemotherapeutic agents. METHODS: We collected muscle biopsies from eleven patients with lower limb sarcoma or melanoma immediately before and at a variable time after the chemotherapeutic procedure (mean = 49.4 days). Biopsy specimens were stained with standard histochemical and immunohistochemical methods on cryostat sections and the grade of fiber atrophy was calculated. RESULTS: Clear neurogenic alterations were present in pre-HLP biopsies of seven patients related to age and previous therapy. In six patients, the comparison between biopsies before and after HLP demonstrated worsening of preexisting neurogenic condition and appearance of mitochondrial-related damage. Reduction in type I or type II fiber diameter was present in nine patients, but no relation to doxorubicin or melphalan treatment was clear. An unexpected, large accumulation of desmin was detected in the muscle biopsy of one patient receiving doxorubicin, probably related to the mechanism of doxorubicin-induced myotoxicity. CONCLUSIONS: The observed neuromuscular toxic effects could be related to the physical or chemical conditions of HLP, in particular perfusion temperature; in addition, the present study demonstrates that preexisting neuromuscular changes, i.e. neuropathy, modulates the degree of further damage following HLP.

New therapies in muscular dystrophies.

Muscular dystrophies are a group of hereditary muscle disorders that often result in severe disability. Curative therapy is not yet available for muscular dystrophies (MD). In the near future, it is not expected that gene-replacement therapy will be available. Other strategies to decrease the rate of muscle necrosis and to increase strength in patients are necessary. Therefore the interest in symptomatic drug treatment has recently increased. A few trials have been performed on different types of muscular dystrophies, and some have generated positive results on muscle strength or muscle mass. We review the state of the art in therapy of MD and summarize the drugs that have been used and the evidence and results of such clinical trials.

Long-term cyclosporine treatment in a group of severe myasthenia gravis patients.

We evaluated cyclosporine A (CsA) treatment in 9 patients (6 female and 3 male), 16-63 years old, with severe myasthenia gravis (MG) for a mean period of 2 years (range 16-36 months). All of the patients had been previously treated either with corticosteroids or by combined immunotherapy, and 5 needed periodic plasma exchanges. The reduction of plasmapheresis cycles in the 5 patients who needed periodic plasma exchange to maintain an acceptable quality of life showed an impressive cost-benefit analysis. During CsA treatment 7 of 9 patients improved their muscle strength and functional score. In all the patients except one the corticosteroid dosage was reduced and in 7 of the 9 patients the dose reduction was over 50% with subsequent reduction of the corticosteroid side effects. The findings showed that initiation of CsA treatment increased muscle strength and reduced corticosteroid dosage. The most common CsA side effects were: a serum creatinine increase that occurred in the first 6-12 months of therapy in 8 patients, other side effects like hypertrichosis and gingival hyperplasia were present in four patients. Blood pressure increase was found in only one patient. CsA treatment may be a valuable and cost effective treatment in severe MG.