RESUMO
The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G>A(p.G317E) and c.962C>T(p.A321V), were found in the patient. Further study showed that c.950G>A was inherited from his father and c.962C>T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.
Assuntos
Doenças dos Gânglios da Base , Choro , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Proteínas de Membrana Transportadoras , TiaminaRESUMO
Three new pregnane glycosides, 3-O-ß-D-glucopyranosyl-(1â2)-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3ß,20-diol (1), 3-O-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3ß,20-diol-20-O-ß-D-glucopyranoside (2), 3-O-α-L-arabinopyranosyl-(20R)-pregn-5-ene-3ß,20-diol-20-O-ß-D-glucopyranosyl-(1â2)-ß-D-glucopyranoside (3) were isolated along with four known compounds, 4-7, from the leaves and stems of Brucea javanica. Their structures were determined by detailed analyses of 1D- and 2D-NMR spectroscopic data. All of the compounds isolated from Brucea javanica were tested for the antifeedant activities against the larva of Pieris rapae. Compounds 1, 3, and 5 showed significant antifeedant activities after 72 h incubation.
Assuntos
Depressores do Apetite/farmacologia , Brucea/química , Borboletas/efeitos dos fármacos , Glicosídeos/farmacologia , Larva/efeitos dos fármacos , Pregnanos/farmacologia , Animais , Depressores do Apetite/química , Depressores do Apetite/isolamento & purificação , Glicosídeos/química , Glicosídeos/isolamento & purificação , Estrutura Molecular , Pregnanos/química , Pregnanos/isolamento & purificação , EstereoisomerismoRESUMO
A new cardenolide tupichinolide (1) and a new steroidal saponin tupichinin A (2), together with seven known compounds, were isolated from the rhizomes of Tupistra chinensis. Their structures were established using spectroscopic analysis and chemical methods. Compound 1 was the first cardenolide isolated from Tupistra chinensis and exhibited potent cytotoxicity against five human cancer cell lines: HL-60, SMMC-7721, A-549, MCF-7 and SW480.