Journal of clinical neuromuscular disease
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J Clin Neuromuscul Dis · Dec 2010
Comparative StudyPlasma exchange after initial intravenous immunoglobulin treatment in Guillain-Barré syndrome: critical reassessment of effectiveness and cost-efficiency.
To assess whether intravenous immunoglobulin (IVIG) followed by plasma exchange (PE) is more effective for patients with Guillain-Barré syndrome compared with IVIG alone. ⋯ We found no association between PE after IVIG and improved short-term outcomes of patients with Guillain-Barré syndrome, but there was an association with an increase in cost and duration of hospitalization. There was no association between the timing of PE after IVIG and the short-term outcome. Prospective studies are needed to clarify whether the cost/benefit ratio favors the routine use of this therapeutic approach.
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J Clin Neuromuscul Dis · Dec 2010
Review Case ReportsIatrogenic femoral neuropathy: two cases and literature update.
Iatrogenic femoral neuropathy is an uncommon surgical or obstetric complication that may be underreported. It results from compression, stretch, ischemia, or direct trauma of the nerve during hip arthroplasty, self-retaining retractor use in pelvicoabdominal surgery, lithotomy positioning for anesthesia or labor, and other more rare causes. ⋯ We describe two illustrative cases related respectively to lithotomy positioning and self-retaining retractor use. The variability in clinical presentation of iatrogenic femoral nerve lesions, some new insights in their diverse pathophysiology, and in the diagnostic and treatment options are discussed with an update from the literature.
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J Clin Neuromuscul Dis · Sep 2010
Case ReportsAdult-onset acid maltase deficiency with isolated axial muscle involvement.
We report a patient with acid maltase deficiency who presented with subacute respiratory failure as the first symptom without significant extremity weakness. ⋯ It is essential to examine axial muscles during electromyography if a patient presents with respiratory failure of unclear etiology even if the clinical examination does not show significant weakness in the extremities and electromyographic findings in the extremities are unremarkable.
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J Clin Neuromuscul Dis · Jun 2010
Case ReportsCharcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.
We describe a previously asymptomatic patient who developed acute onset sensory symptoms which gradually resolved spontaneously. Neurologic examination revealed pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the myelin protein zero gene (Leu144fs). This case suggests that this novel myelin protein zero mutation, as others reported previously, also results in a mild phenotype with late-onset neurologic symptoms and may be accompanied by remitting sensory disturbances.
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J Clin Neuromuscul Dis · Mar 2010
The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales.
To evaluate the reliability and validity of the PedsQL 3.0 Neuromuscular Module (NMM) in assessing health-related quality of life in the Duchenne muscular dystrophy (DMD) population for use as a secondary outcome measure in phase III clinical trials. ⋯ The PedsQL NMM is a reliable measure of disease-specific health-related quality of life in the DMD population and may be used as an outcome measure in clinical trials.