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Pesquisa : D04.210.500.247.222.222.347.200 [Categoria DeCS]
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Id: lil-450274
Autor: Scalco, Fernanda B; Otto, Paulo A; Brunetti, Iguatemy L; Cruzes, Vania M; Moretti-Ferreira, Danilo.
Título: Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Fonte: Genet. mol. biol;29(3):429-436, 2006. ilus.
Idioma: en.
Resumo: 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 laboratory results, 17 showed a high probability favoring the diagnosis of SLOS. The most significant signs and symptoms observed in over 2/3 of the biochemically confirmed cases were mental retardation (10/11), delayed neuropsychomotor development (10/11), syndactyly of 2nd/3rd toes (10/11), and craniofacial anomalies including microcephaly (11/11), incompletely rotated ears (8/11), palpebral ptosis (10/11), anteverted nostrils (10/11), and micrognathia (9/11). Genital anomalies were found in all male patients (6/6).
Descritores: Colesterol/metabolismo
Desidrocolesteróis
Síndrome de Smith-Lemli-Opitz/genética
-Anormalidades Múltiplas
Brasil
Diagnóstico Diferencial
Deficiência Intelectual
Limites: Humanos
Masculino
Feminino
Pré-Escolar
Criança
Responsável: BR26.1 - Biblioteca Central


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Id: lil-346482
Autor: Scalco, F. B; Cruzes, V. M; Vendramini, R. C; Brunetti, I. L; Moretti-Ferreira, D.
Título: Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;36(10):1327-1332, Oct. 2003. ilus, tab.
Idioma: en.
Resumo: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 æl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed
Descritores: Colesterol
Desidrocolesteróis
Síndrome de Smith-Lemli-Opitz/diagnóstico
-Biomarcadores
Síndrome de Smith-Lemli-Opitz/sangue
Espectrofotometria Ultravioleta
Limites: Pré-Escolar
Humanos
Masculino
Lactente
Criança
Responsável: BR1.1 - BIREME



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