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Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients Genet. Mol. Biol.
Scalco,Fernanda B.; Otto,Paulo A.; Brunetti,Iguatemy L.; Cruzes,Vania M.; Moretti-Ferreira,Danilo.
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group of Brazilian patients. Based on our own data and those reported previously, we present a simple method that allows the estimation of probabilities favoring the diagnosis of SLOS. We evaluated 30 patients clinically and determined their plasma levels of cholesterol and 7-dehydrocholesterol. In 11 patients, the diagnosis was confirmed by ultraviolet spectrophotometry (UV). Of 19 patients with normal...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Smith-Lemli-Opitz syndrome; Cholesterol metabolism; 7-dehydrocholesterol.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003
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Nicotine-enhanced oxidation of low-density lipoprotein and its components by myeloperoxidase/H2O2/Cl- system Anais da ABC (AABC)
Oliveira,Olga M.M.F.; Brunetti,Iguatemy L.; Khalil,Najeh M..
In this study, the effect of nicotine on the LDL oxidation by the MPO/H2O2/Cl- system and the effect of HOCl on LDL and some of its components, such as methyl linoleate, vitamin E and the amino acid tryptophan were explored. Nicotine, in micromolar concentrations, enhanced the tryptophan oxidation, either present in LDL or free, in solution. Nicotine also decreased the formation of conjugated dienes and oxygen consumption in a methyl linoleate / HOCl system, and there was evidence to suggest an increase in chlorohydrin formation. Acceleration of the vitamin E oxidation by HOCl was also observed in the presence of nicotine. These data show that the interaction of nicotine and HOCl can promote significant biochemical modifications in LDL particle and some of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Nicotine; Myeloperoxidase; Hypochlorous acid; Low-density lipoprotein; Methyl linoleate; Vitamin E; Tryptophan.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000100183
Registros recuperados: 2
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