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1.
Genet Mol Res ; 14(2): 3862-8, 2015 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-25966156

RESUMO

To investigate the value and essentiality of 6- and 24-h delay hepatobiliary scintigraphy in the differential diagnosis of biliary atresia (BA), we retrospectively analyzed 197 infants (121 boys/76 girls; age range, 3-205 days; average age, 63.9 days) admitted to Jiangxi Children's Hospital for persistent jaundice (> 2 weeks), hepatosplenomegaly, and abnormal liver function. After receiving anti-inflammatory treatment and cholagogic pre-treatment for 7-10 days without a clear diagnosis, the children underwent 99mTc-labeled diethylacetanilide-iminodiacetic acid hepatobiliary scintigraphy. BA and infant hepatitis syndrome were diagnosed in 107 and 90 infants, respectively after laparoscopic cholangiography, surgical pathology, or 6-month clinical follow-up. The diagnostic efficiencies of hepatobiliary scintigraphy for BA were evaluated within 50 min and at 6 and 24 h. The areas under the receiver operating characteristic curves within 50 min, at 6 and 24 h were 0.696, 0.829 , and 0.779 , suggesting poor diagnostic value within 50 min, but improvement at 6 and 24 h. The compliance rate of 6- and 24-h imaging for BA diagnosis was 89.34% (176/197; paired chi-square test Kappa value, 0.77; P > 0.05), signifying high consistency. The diagnostic efficiency values of 6-/24-h imaging for BA diagnosis were sensitivity (90.65/89.72%), specificity (74.44/78.89%), accuracy (83.25/84.77%), positive and negative predictive values (80.83/83.48% and 87.01/86.59%), with no significant difference (P > 0.05). To provide optimal treatment in early BA, the- 6-h hepatobiliary scintigraphy had practical value, especially when combined with tomographic or dynamic imaging; 24-h delay imaging was deemed unnecessary because it was not significantly superior.


Assuntos
Ductos Biliares/diagnóstico por imagem , Atresia Biliar/diagnóstico por imagem , Fígado/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Cintilografia , Estudos Retrospectivos
2.
Genet Mol Res ; 13(2): 2574-89, 2014 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-24446340

RESUMO

To understand the relationships between single nucleotide polymorphisms (SNPs) in the waxy gene and starch parameters in common rye, we performed sequence characterization, enzyme activity testing, amylopectin/amylose ratio evaluation, starch property testing, and correlation analysis. Specific primers were used to clone waxy from 20 rye cultivars. Sequence analysis showed that waxy was 2852 bp, including 11 exons, and sequence similarity across the 20 cultivars was over 98%. The Waxy protein showed >95% similarity with those from wheat, rice, and barley, the closest genetic relationship being with wheat Wx-A type. Waxy had multiple SNPs, most of which were located in the exons. Amino acid variants were found to be mainly distributed in the catalytic domain in an imbalanced state. Multi-factor correlation analysis revealed significant correlation among starch pasting parameters in rye flour. The Waxy protein activity was significantly negatively correlated with the amylose content and amylopectin/amylose ratio. However, pasting parameters, Waxy enzyme activity, and amylopectin/amylose content ratio were not correlated. The correlation of SNPs, the key catalytic site of Waxy, with starch parameters and enzyme activity suggested that both starch pasting parameters and Waxy protein activity were influenced by No. 260 amino acid (aa). Further, the 141 and 152 aa loci were found in the enzyme-catalyzing domain of Waxy. Interestingly, Waxy enzyme activity was also influenced by the 363 aa locus in the pliable region. These results provide important theoretical regarding the high-throughput quality identification of noodle starch, functional studies, directional selection, and molecular markers of wheat Wx subunits.


Assuntos
Amilose/genética , Filogenia , Proteínas de Plantas/genética , Sintase do Amido/genética , Amido/química , Amilose/química , Hordeum/genética , Oryza/genética , Proteínas de Plantas/química , Polimorfismo de Nucleotídeo Único , Secale , Análise de Sequência de DNA , Sintase do Amido/química , Triticum/genética
3.
Genet Mol Res ; 10(4): 3455-62, 2011 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-22180065

RESUMO

Complementary DNA (cDNA) is valuable for investigating protein structure and function in the study of life science, but it is difficult to obtain by traditional reverse transcription. We employed a novel strategy to clone human leukemia inhibitory factor (hLIF) gene cDNA from genomic DNA, which was directly isolated from the mucous membrane of mouth. The hLIF sequence, which is 609 bp long and is composed of three exons, can be acquired within a few hours by amplifying each exon and splicing all of them using overlap-PCR. This new approach developed is simple, time- and cost-effective, without RNA preparation or cDNA synthesis, and is not limited to the specific tissues for a particular gene and the expression level of the gene.


Assuntos
Clonagem Molecular/métodos , DNA Complementar/genética , DNA Complementar/isolamento & purificação , Genoma Humano/genética , Fator Inibidor de Leucemia/genética , Mucosa Bucal/metabolismo , Sequência de Aminoácidos , Sequência de Bases , Éxons/genética , Humanos , Fator Inibidor de Leucemia/química , Dados de Sequência Molecular , Fases de Leitura Aberta/genética , Splicing de RNA/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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