Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

We describe the case of a young woman affected by debilitating chorea and rapidly progressive cognitive decline. While her original diagnosis was multiple sclerosis, we performed a full instrumental and genetic assessement, though which we identified multiple genetic variants, including a novel variant of the APP gene. We propose some possible mechanisms by which such variants may contribute to neuroinflammation and ultimately lead to this devastating clinical course.

Web of the carotid artery: An under-recognized cause of ischemic stroke.

Ischemic stroke has rarely been reported in association with a web of the carotid artery. We describe here an additional case of ischemic stroke caused by a carotid web in a young healthy woman. Detection of this vascular abnormality required the use of CT angiography and cerebral digital subtraction angiography. Although there is little evidence regarding the optimal management of this condition, under medical treatment with dual antiplatelet therapy our patient remained free of recurrent stroke events. This case report study illustrates that the web of the carotid artery is an uncommon cause of stroke which should always be considered and ruled out, especially in young patients with otherwise cryptogenic stroke. Clinicians should be aware of this condition, which represents a diagnostic and therapeutic challenge.

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1.

The electromechanical delay during muscle contraction and relaxation can be partitioned into mainly electrochemical and mainly mechanical components by an EMG, mechanomyographic, and force combined approach. Component duration and measurement reliability were investigated during contraction and relaxation in a group of patients with myotonic dystrophy type 1 (DM1, n = 13) and in healthy controls (n = 13). EMG, mechanomyogram, and force were recorded in DM1 and in age- and body-matched controls from tibialis anterior (distal muscle) and vastus lateralis (proximal muscle) muscles during maximum voluntary and electrically-evoked isometric contractions. The electrochemical and mechanical components of the electromechanical delay during muscle contraction and relaxation were calculated off-line. Maximum strength was significantly lower in DM1 than in controls under both experimental conditions. All electrochemical and mechanical components were significantly longer in DM1 in both muscles. Measurement reliability was very high in both DM1 and controls. The high reliability of the measurements and the differences between DM1 patients and controls suggest that the EMG, mechanomyographic, and force combined approach could be utilized as a valid tool to assess the level of neuromuscular dysfunction in this pathology, and to follow the efficacy of pharmacological or non-pharmacological interventions.

Ballooning-induced bradycardia during carotid stenting in primary stenosis and restenosis.

INTRODUCTION: We compared the incidence of intraprocedural bradycardia and hypotension during carotid artery stenting in patients with primary carotid artery stenosis and those with prior ipsilateral carotid endarterectomy. METHODS: A total of 213 carotid stenting procedures were performed in our institution in a 4-year period. The mean degree of stenosis was 78% (range 60-99%). Of these 213 procedures, 43 were performed for carotid restenosis, 9 after stenting and 34 after endarterectomy, and 170 for primary stenosis. Atropine was selectively administrated if patients suffered bradycardia (a decrease in heart rate to <50% or an absolute heart rate of <40 bpm) or hypotension (systolic blood pressure <90 mmHg). We compared the group of patients with primary stenosis (n=170) and the group of patients with restenosis after carotid endarterectomy (n=34) in relation to intraprocedural hypotension or bradycardia/need for atropine administration. RESULTS: Hypotension occurred in 49 patients with primary stenosis and 2 patients with restenosis. The difference was statistically significant. Atropine was administered for bradycardia to 58 patients with primary stenosis and 3 patients with restenosis. The difference was statistically significant. CONCLUSION: Intraprocedural bradycardia and hypotension occur more frequently in patients with primary carotid artery stenosis.