RESUMO
Background and Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease caused by mutations in the CYP27A1. The purpose of this study is to determine the clinical characteristics, neuroimaging and mutation detect in a family with CTX systematically. Methods: Collecting history materials and detecting the routine clinical biochemical tests and imaging examination, and for the first time taking the whole body positron emission tomography (PET)-CT examination for probed in the world to research abnormal metabolism activities in CTX. To observe the effect of treatment with chenodeoxycholic acid(CDCA) and stains before and after the intervention, using serum lipid level detection and neuropsychological evaluation. Genetic testing was carried out to screen the nine exons and exon-intron boundaries about 200-300bq of CYP27A1. Results: A 37-year-old woman with typical clinical characteristics of CTX. Magnetic resonance imaging (MRI) of brain showed bilateral lesions in the dentate nucleus of the cerebellum, then, PET images revealed multiple abnormal hypermetabolism areas at distal tendon, and multifocal areas of hypometabolism in bilateral sides of cerebellar hemispheres, the frontal lobe and temporal lobe. Histopathology reveals accumulation of xanthomacells and dispersed lipid crystal clefts in xanthomas. In genetic analysis, it shown an insertion of cytosine (77-78insC) located in the first exon of CYP27A1 in the proband. Conclusions: We found that a Chinese patient presented a typical clinical feature of CTX along with clear correlation on both structural and functional imaging had a novel mutation in the CYP27A1 gene (AU)
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Assuntos
Humanos , Xantomatose Cerebrotendinosa/complicações , Transtornos Mentais/complicações , Neuroimagem Funcional , Tomografia Computadorizada por Raios X , Esteroide Hidroxilases/análise , Tempo de ReaçãoRESUMO
Darunavir es un nuevo inhibidor de la proteasa del virus de la inmunodeficiencia humana (VIH) que ha demostradotener una gran utilidad en el tratamiento de los pacientes infectados por el VIH. Darunavir se metaboliza por el citocromo P450 hepático, por lo que su administración con dosis bajas de ritonavir resulta en un marcado incremento en la exposición a éste y permite reducir el número de comprimidos y de dosis diarias. Tanto darunavir como ritonavir actúan como inhibidores a la vez que sustratos del citocromo CYP3A4, por lo que son susceptibles de presentar interacciones medicamentosas con un amplio número de fármacos comúnmente usados en los pacientes infectados por el VIH. El objetivo de esta revisión es el de resumir los principales estudios llevados a cabo para evaluar dichas interacciones y servir de guía para el manejo del tratamiento con darunavir/ritonavir en lapráctica clínica
Darunavir is a new HIV protease inhibitor that has beenshown to be highly useful in HIV-infected patients. Thisdrug is primarily metabolized by the liver through thecytochrome P450 3A4 (CYP3A4) isozyme and consequentlycoadministration with low doses of ritonavir markedlyincreases exposure and allows both daily doses and pillburden to be reduced. Both darunavir and ritonavir act asinhibitors and substrates of CYP3A4 and may thereforepresent pharmacological interactions with a large numberof drugs commonly used in HIV-infected patients. Thepresent review aims to summarize the main studies thathave evaluated drug interactions and to providerecommendations on treatment with darunavir/ritonavir inclinical practice
Assuntos
Humanos , Antirretrovirais/farmacocinética , Infecções por HIV/tratamento farmacológico , Inibidores da Protease de HIV/farmacocinética , Interações Medicamentosas , Esteroide Hidroxilases/antagonistas & inibidoresRESUMO
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