Neurology
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Comparative Study
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.
To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD). ⋯ These data provide evidence of the role of SPP1 genotype as a disease modifier in DMD and support its relevance in the selection of homogeneous groups of patients for future clinical trials.
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Comparative Study
Simulation-based education with mastery learning improves residents' lumbar puncture skills.
To evaluate the effect of simulation-based mastery learning (SBML) on internal medicine residents' lumbar puncture (LP) skills, assess neurology residents' acquired LP skills from traditional clinical education, and compare the results of SBML to traditional clinical education. ⋯ Residents who completed SBML showed significant improvement in LP procedural skills. Few neurology residents were competent to perform a simulated LP despite clinical experience with the procedure.
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To evaluate the whole-brain resting-state networks in a homogeneous group of patients with acute mild traumatic brain injury (MTBI) and to identify alterations in functional connectivity induced by MTBI. ⋯ We proved that whole-brain functional connectivity is altered early (within 4 weeks) after MTBI, suggesting that changes in functional networks underlie the cognitive deficits and postconcussive complaints reported by patients with MTBI.
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Review Case Reports
Child neurology: hemiconvulsion-hemiplegia-epilepsy syndrome.
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon outcome of prolonged focal status epilepticus in childhood. The prolonged focal motor seizure usually occurs during the course of a febrile illness and is followed by hemiplegia ipsilateral to the side of convulsions. ⋯ The clinical features of HHE syndrome were first described more than 5 decades ago but its pathophysiology remains poorly understood and the long-term cognitive outcomes are unclear. Early recognition of the syndrome may help provide patients and families with an accurate prognosis regarding the subsequent development of epilepsy.