Arch Neurol Chicago
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Arch Neurol Chicago · Jan 2008
Magnetic resonance imaging white matter hyperintensities and brain volume in the prediction of mild cognitive impairment and dementia.
To determine whether magnetic resonance imaging (MRI) white matter hyperintensities (WMH), whole-brain atrophy, and cardiovascular risk factors predict the development of cognitive decline and dementia. ⋯ These findings suggest that WMH are associated with the risk of progressing from normal to MCI. In persons whose cognitive abilities are already impaired, BPF predicts the conversion to dementia.
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Myasthenic crisis (MC) is often associated with prolonged intubation and with respiratory complications. ⋯ BiPAP is effective for the treatment of acute respiratory failure in patients with myasthenia gravis. A BiPAP trial before the development of hypercapnia can prevent intubation and prolonged ventilation, reducing pulmonary complications and lengths of intensive care unit and hospital stay.
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Arch Neurol Chicago · Dec 2007
Case ReportsFatal initial adult-onset presentation of urea cycle defect.
Ornithine transcarbamylase (OTC) deficiency presents most commonly with neonatal hyperammonemic coma. The gene is on the X chromosome, but the disease may manifest as a dominant trait. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood. ⋯ Diagnosis of late-onset presentations of urea cycle defect in adults may be delayed. Heightened awareness could lead to effective treatment.
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Sickle cell disease (SCD) is understood on a genetic and a molecular level better than most diseases. Young children with SCD are at a very high risk of stroke. The molecular pathologic abnormalities of SCD lead to microvascular occlusion and intravascular hemolytic anemia. ⋯ The inflammatory environment known to exist in SCD and the known effect of plasma free hemoglobin, released by hemolysis, of reducing available nitric oxide may contribute to the development of cerebrovascular disease. Further research may lead to more targeted therapies. We can reduce many of the big strokes that occur in these small persons by aggressively screening patients at a young age (and periodically throughout the childhood risk period) and interrupting the process with regular blood transfusions.
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Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochondrial DNA point mutations. ⋯ The prevalence of WPW syndrome among patients with MELAS syndrome and the A3243G mutation appears much higher than in the normal population and may become manifest earlier than neurologic symptoms. Patients with WPW syndrome and neurologic abnormalities consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation. Moreover, patients with MELAS syndrome should be monitored for cardiac anomalies including cardiomyopathy and WPW syndrome.