1,721,060 research outputs found
Autonomic nervous system alterations in Rett syndrome
No full textRett syndrome (RTT) is a severe developmental-neurological disorder characterized by profound and progressive loss of intellectual functioning. Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are present in the majority of cases of RTT. The high incidence of sudden death in RTT and the suspect that autonomic nervous system alterations might be the underlaying pathogenetic mechanism have spurred efforts, in the last decade, for the study of the autonomic nervous system in Rett girls. Recently, many studies were performed in mice with Mecp2 mutations to know the pathophysiology of autonomic nervous system alterations observed in RTT. Neurometabolic alterations observed in RTT include reduced levels of dopamine, serotonin, noradrenaline, choline acetyltransferase, nerve growth factor (NGF), substance P, glutamate and other aminoacids and their receptor levels in the brain. Breathing irregularities with various respiratory patterns were described in RTT suggesting autonomic nervous system alterations. In RTT a loss of physiological heart rate variability associated with an increase of adrenergic tone is also observed. Pharmacological manipulation of brainstem neurotransmitters and neurotrophic drugs, as acetyl-L-carnitine, have been suggested in the treatment of autonomic alterations of Rett children. Recently, the principle of reversibility in a mouse model was established, raising the possibility that neurological defects seen in this model and related human disorders are not irrevocable. © 2009 Bentham Science Publishers Ltd
To the Editor— Anticoagulation in atrial fibrillation after intracranial hemorrhage: Could the hemorrhage location influence the outcome?
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Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?
No full textThere is a higher incidence of sudden death in patients with Rett syndrome than individuals in the general population. Previous studies have implicated cardiac dysautonomia and a long QT interval as causative factors. Because carnitine plays a critical role in cellular metabolism and may have beneficial effects on cardiac and nerve function, we investigated the effects of long-term treatment with acetyl-L-carnitine on heart rate variability and electrocardiographic abnormalities in 10 girls with Rett syndrome and compared the results with 12 control patients (girls with Rett syndrome who were not treated). The age range of the subjects was 2-21 years. The study design called for the evaluation of heart rate variability, corrected QT interval, and QTc dispersion. In the 10 Rett girls treated with acetyl-L-carnitine, a significant increase in heart rate variability was observed. To explain these results, we hypothesize that acetyl-L-carnitine has a neurotrophic action on the cardiac autonomic nervous system. This effect may reduce the risk of sudden death in patients with this syndrome
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant
No full textIncidence of sudden death in Rett syndrome is greater than that of the general population, and cardiac electrical instability is a prime suspect cause. The objective of the present study was the evaluation of heart rate variability, a marker of autonomic activity, in females affected by classic Rett syndrome and atypical variants for a possible explanation of the higher risk for sudden death observed in these subjects. Our study showed that girls with classic Rett syndrome had significantly lower heart rate variability and longer corrected QT intervals than in atypical Rett syndrome and age-matched healthy girls. Reduction of heart rate variability progresses with age and with the clinical stage of the syndrome. These results suggest the possible role of the progressive cardiac dysfunction in the sudden death associated with Rett syndrome
Aortic stiffness in patients with deep and lobar intracerebral hemorrhage: role of antihypertensive drugs and statins: response to letter
No full textThrombolytic treatment of cardiac myxoma-induced ischemic stroke: a review
No full textPrimary cardiac tumors are uncommon, with an autopsy frequency of 0.001%-0.28%: 75% of them are benign, and 50-75% of these are myxomas. Often the first neurological manifestations of a cardiac myxoma include transient ischemic attacks and ischemic strokes. Although thrombolytic therapy represents the gold standard for acute ischemic stroke treatment, its safety and effectiveness in stroke patients with myxoma is unknown. From the analysis of the literature on thrombolysis in ischemic stroke patients with myxoma we report clinical evidence supporting the use of thrombolytics, and the application of thrombolysis in this setting of patients. 23 previous reports presented patients with acute ischemic stroke and associated cardiac myxoma treated with thrombolytic therapy: 16 patients were treated with intravenous thrombolysis, 4 patients with intra-arterial thrombolysis and 3 patients were treated with bridging therapy (intravenous alteplase followed by local mechanical thrombolysis). Our review showed that the possible risk of major bleeding in these patients resulted in limited and small hemorrhages; furthermore patients who developed cerebral hemorrhage did not deteriorate clinically: waiting for further confirmation and additional data from a future register, these observations may suggest that, notwithstanding a possible publication bias, i.v. thrombolytic therapy may be a safe treatment in these patients. © 2014 Bentham Science Publishers
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