133 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
3-oxo-3-thia-2-azabicyclo[2.2.1]hept-5-en-2-carboxylates: the first isolation and characterization
No full textMethyl and benzyl 3-oxo-3-thia-2-azabicyclo[2.2.1]hept-5-en-2-carboxylate were isolated at r.t. and characterized for the first time. Both endo and exo- isomers were observed. In suitable experimental conditions (stoichiometric amount of sodium acetate, –40°C or sodium borohydride/methyl iodide) ring opening of these compounds gave the corresponding thiosulfonates or methyl sulfides, respectivel
To the Editor— Anticoagulation in atrial fibrillation after intracranial hemorrhage: Could the hemorrhage location influence the outcome?
No full textTetrahydropyridinium bromide: useful synthon to functionalized pyridines
No full text1-benzyl-5-(ethoxycarbonyl)-2,3,4,5-tetrahydropyridinium bromide undergoes ring contraction with a
series of nucleophiles, getting 2,2-disubstitued pyrrolidines. Moreover, from some of the new 2,2-disubstitued
pyrrolidines were synthesized spiro-pyrrolidine
Chemoselective Opening of Vince Lactam Epoxide with Nitrogen Nucleophiles
No full textHere is reported the chemoselective opening of the amide bond on a Vince lactam derivative with amines, without the cleavage of the epoxide-moiety, getting five new epoxides. Also reported is the rearrangement of the epoxides into the respective five new oxazolidinones with the use of BF 3·Et2O. Crystal structures of some molecules and hydrogen bonding interactions are discussed. © 2010 Elsevier Ltd. All rights reserved
Aortic stiffness in patients with deep and lobar intracerebral hemorrhage: role of antihypertensive drugs and statins: response to letter
No full text
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
- …
