Journal of neurology
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Journal of neurology · May 2012
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. ⋯ Analysis of endplate morphology in one of the patients revealed unspecific abnormalities. Our study delineates the phenotype of CMS associated with GFPT1 mutations and expands the understanding of neuromuscular junction disorders. As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we suggest calling this condition congenital myasthenic syndrome with tubular aggregates (CMS-TA).
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Journal of neurology · May 2012
Hyperdensity on non-contrast CT immediately after intra-arterial revascularization.
Non-contrast enhanced computed tomography (NCCT) is usually performed to estimate bleeding complications immediately after procedures. However, hyperdense areas on NCCT have not yet been understood; different interpretations have been reported in the literature. It remains unclear whether NCCT performed immediately after intra-arterial revascularization (IAR) could be useful for predicting hemorrhagic transformation (HT) or clinical outcomes. ⋯ The HU value was a predictor of HT without statistical significance (area under curve of 0.629; 95% CI: 0.49-0.76; p = 0.068). In addition, an HU of >90 poorly predicted HT with a low sensitivity (23%) and a high specificity (94%). In conclusion, our results showed that although hyperdensity on NCCT images obtained immediately after IAR had a moderate predictive value for HT, there were limitations to the prediction of subsequent parenchymal hematoma and symptomatic intracranial hemorrhage, with a low specificity and a low positive predictive value.
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Journal of neurology · May 2012
Idiopathic intracranial hypertension is not benign: a long-term outcome study.
Idiopathic intracranial hypertension (IIH) primarily affects young obese females, and potentially causes visual loss and severe headache. The aim of this experiment is to examine relapse rate and long-term outcome in IIH patients. The methods involved in this experiment include a prospective controlled study of 18 newly diagnosed IIH patients followed for a mean observation period of 21.1 (±8.0) months. ⋯ Thus, the conclusions drawn are that headache was persistent, difficult to classify, and equally represented in relapse and non-relapse patients. Headache was thus a poor marker of active disease. Relapse rate was high and clinically undetectable optic disc atrophy was discovered in apparently well treated IIH patients.
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Journal of neurology · Apr 2012
Randomized Controlled TrialOccurrence and impact of delayed cerebral ischemia after coiling and after clipping in the International Subarachnoid Aneurysm Trial (ISAT).
Delayed cerebral ischemia (DCI) is an important cause of poor outcome after aneurysmal subarachnoid hemorrhage (SAH). We studied differences in incidence and impact of DCI as defined clinically after coiling and after clipping in the International Subarachnoid Aneurysm Trial. We calculated odds ratios (OR) for DCI for clipping versus coiling with logistic regression analysis. ⋯ Only for patients treated within 4 days, coiling and DCI was associated with a poorer outcome at 1 year than clipping and DCI (RERI -2.02, 95% CI -3.97 to -0.08). DCI was more common after clipping than after coiling in SAH patients in ISAT. Impact of DCI on poor outcome did not differ between clipped and coiled patients, except for patients treated within 4 days, in whom DCI resulted more often in poor outcome after coiling than after clipping.