Neurology
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Case Reports
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia. ⋯ The combination of episodic dysfunction and permanent deficit could depend on the variety of functions of calcium channels and their distribution in the nervous system.
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To compare complications of surgical clipping and coil embolization in the treatment of unruptured aneurysms. ⋯ Endovascular coil embolization resulted in fewer adverse outcomes than surgery for unruptured cerebral aneurysms treated at the university hospitals studied. Although these results should be seen as preliminary, the magnitude of difference and current predominance of surgery appear to justify a randomized trial.
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To describe the frequency and clinical course of terminal extubation in the neurological intensive care unit, to identify factors that influence the decision to withdraw life support, and to evaluate the experiences of surrogate decision-makers. ⋯ Forty-three percent of our non-brain-dead patients who died were terminally extubated. The duration of survival after extubation exceeded 24 hours in one third, and was not predicted by level of consciousness. Two thirds of patients were treated with opioids for agonal respiratory distress. Most surrogate decision-makers were comfortable and satisfied with the process of withdrawing care.
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To determine whether proton MRS (1H-MRS) neurochemical measurements predict neuropsychological outcome of patients with traumatic brain injury (TBI). ⋯ 1H-MRS provides a rapid, noninvasive tool to assess the extent of diffuse injury after head trauma, a component of injury that may be the most critical factor in evaluating resultant neuropsychological dysfunction. 1H-MRS can be added to conventional MR examinations with minimal additional time, and may prove useful in assessing injury severity, guiding patient care, and predicting patient outcome.