Biomedical subjects
Publications and source records attributed to M N Meriggioli.
The authors report 10 patients with idiopathic dermatomyositis treated with mycophenolate mofetil in combination with corticosteroids. Successful steroid taper without disease relapse was achieved in six patients; however, in three patients, treatment was associated with opportunistic infections, leading to death in one patient. The disproportionately high rate of opportunistic infections in this group is considered.
The authors report a prospective pilot trial of etanercept in corticosteroid-dependent autoimmune myasthenia gravis. Eleven patients were enrolled, with eight completing the 6-month trial. Two patients were withdrawn owing to disease worsening, and one patient was withdrawn because of an erythematous skin rash. Six of the eight patients who completed the trial improved, based on quantitative measures of muscle strength and lowering of corticosteroid requirement.
The authors report a retrospective analysis of the use of mycophenolate mofetil (MyM) in 85 patients with autoimmune myasthenia gravis. The Myasthenia Gravis Foundation of America (MGFA) postintervention status (PIS) was used to characterize the treatment response in each patient. Sixty-two patients (73%) achieved a PIS status indicating improvement. Quantitative strength testing performed on the majority of patients before and after treatment also improved. Side effects to MyM were observed in 27% of patients but required discontinuation in only 6%.
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Monomelic amyotrophy is a sporadic juvenile-onset disease that presents with gradual onset of weakness and atrophy in the hand muscles unilaterally. Generally, this disease is considered a 'benign' and non-progressive motor neuron disease, which stabilizes within five years of onset. We discuss a case that illustrates that monomelic amyotrophy may rarely exhibit late clinical progression to the lower extremities after a prolonged period of disease stability.
Treatment with interferon-alpha (IFN-alpha) has been associated with the occurrence of a number of autoimmune disorders. We report a case of chronic inflammatory demyelinating polyneuropathy (CIDP) occurring in a patient with a chronic viral hepatitis C infection who received a novel, long-acting form of IFN-alpha. After withdrawal of the interferon treatment, this patient responded to a single extended course of plasma exchange that resulted in a complete clinical remission of symptoms without relapse.
A-waves are generally considered a nonspecific finding of unclear electrodiagnostic and clinical significance. We systematically identified A-waves during routine F-wave studies and defined them as supramaximally elicited reproducible intermediate to late responses that are clearly separate from the M-responses. In patients with A-waves, we noted electrophysiologic diagnoses, the nerve in which the A-wave was identified, the presence of A-waves in multiple nerves, and A-wave morphology. In 54 of 1,258 studies performed, A-waves were present in one or more nerves. Electrophysiologic diagnoses in patients with A-waves included diffuse axonal neuropathy (11.5%), demyelinating neuropathy (66.7%), motor neuron disease (6.5%), radiculopathy (3.6%), mononeuropathy (3.9%), and normal (tibial nerve only) 0.7%. A-waves were abnormal when found in any nerve except the tibial nerve. They were particularly prevalent and present in multiple nerves in acquired and hereditary demyelinating neuropathies, and they more often had a complex morphology. We postulate that demyelination is the crucial underlying pathophysiologic correlate of the supramaximally stimulated A-wave.
We report a patient with myasthenia gravis (MG) who had marked clinical benefit in response to treatment with mycophenolate mofetil as documented by serial quantitative measures of strength and muscle fatigue. Our patient had experienced either adverse side effects or a suboptimal response to the usual immunosuppressive agents used in MG. Mycophenolate mofetil was used in combination with cyclosporine and prednisone and allowed for significant reductions in dosage of these immunosuppressants. We conclude that mycophenolate mofetil deserves further study as a therapeutic agent in MG. In particular, its role as a steroid-sparing agent and as a drug to be used in combination immunotherapy in more severe or refractory cases of MG should be investigated.
The term continuous motor unit activity (CMUA) may be used to refer to the involuntary, sustained activity of motor units caused by hyperactivity of peripheral motor nerves. CMUA has been reported in association with acquired neuropathies such as chronic inflammatory demyelinating polyneuropathy. The precise mechanism responsible for the excess muscle activity is not defined, but the activity is believed to originate in the peripheral nerves, perhaps at sites of focal demyelination. We describe a case of an acquired, demyelinating neuropathy associated with distal motor conduction block in which CMUA was observed in muscles innervated by blocked axons. Despite the prolonged disease duration of nearly 40 years, marked clinical and electrophysiological improvement as well as resolution of the CMUA were observed following immunosuppressive therapy. A relationship between the chronic motor conduction block and the excess muscle activity is postulated.
We report a patient with adult-onset spinal muscular atrophy (SMA) of the scapulohumeral type with neurogenic muscle hypertrophy (NMH) in markedly weakened biceps muscles in association with continuous complex repetitive discharges (CRDs). This is an apparently unique case due to the bilaterality of the NMH associated with CRDs as well as the well-circumscribed symmetric upper extremity distribution of the hypertrophy. The possible mechanisms of NMH in association with spontaneous motor activity are discussed.
X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.
Miyoshi myopathy is a rare autosomal recessive distal myopathy characterized by early and prominent involvement of the posterior compartment of the legs. We describe two patients with the clinical diagnosis of Miyoshi myopathy who demonstrated marked inflammatory changes on muscle biopsy of clinically less affected muscles. This report illustrates the importance of recognizing the marked variability in histopathology of Miyoshi myopathy which may include an inflammatory infiltrate on muscle biopsy which mimics the histopathologic picture of an inflammatory myopathy.
Coexistent peripheral neuropathy and connective tissue disease is fairly common, possibly because immune-mediated factors are often present in both disorders. Awareness of the association between the two conditions can be important during diagnostic evaluation, because neuropathy is sometimes the presenting feature of previously unrecognized connective tissue disease. In this article, the authors examine clinical findings in vasculitic, nonvasculitic, and treatment-related neuropathy, concentrating on the essentials of diagnosis and treatment.
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