Value of serum gamma-glutamyl transpeptidase combined with direct bilirubin in the diagnosis of biliary atresia in infants / 中国当代儿科杂志

OBJECTIVE@#To study the value of serum gamma-glutamyl transpeptidase (GGT) combined with direct bilirubin (DB) in the diagnosis of biliary atresia.@*METHODS@#A total of 667 infants with cholestasis who were hospitalized and treated from July 2010 to December 2018 were enrolled as subjects. According to the results of intraoperative cholangiography and follow-up, they were divided into biliary atresia group with 234 infants and cholestasis group with 433 infants. The two groups were compared in terms of age of onset, sex, and serum levels of total bilirubin (TB), DB, alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bile acid (TBA), and GGT. A receiver operating characteristic (ROC) curve analysis was performed for indices with statistical significance, and the area under the ROC curve (AUC) and the optimal cut-off value for diagnosis were calculated.@*RESULTS@#The biliary atresia group had a significantly younger age of onset than the cholestasis group (P0.05), while the biliary atresia group had significantly higher serum levels of TB, DB, TBA, and GGT than the cholestasis group (P<0.05). GGT combined with DB had the highest AUC of 0.892 (95% confidence interval: 0.868-0.916) in the diagnosis of biliary atresia. At the optimal cut-off values of 324.0 U/L for GGT and 115.1 μmmol/L for DB, GGT combined with DB had a sensitivity of 79.8% and a specificity of 83.2% in the diagnosis of biliary atresia.@*CONCLUSIONS@#GGT combined with DB has high sensitivity and specificity in the diagnosis of biliary atresia and can be used as an effective indicator for diagnosis of biliary atresia in infants.

Protective effects of glycyrrhizic acid against lupus nephritis in MRL/lpr mice / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate protective effect of glycyrrhizic acid (GA) against lupus nephritis in MRL/lpr mice and explore its underlying mechanisms.</p><p><b>METHODS</b>Forty MRL/lpr mice were randomized equally into blank control group, dexamethasone (1.5 mg/kg) group, GA (20 mg/kg) group, and GA (40 mg/kg) group with corresponding treatments for 7 days, with 10 wild-type mice as the control group. Serum levels of uric acid and creatinine and inflammatory cytokines in the serum and kidney were tested after the treatments using enzyme-linked immunosorbent assays (ELISA). The pathological changes in the kidneys were detected using HE staining, and the protein expressions of NLRP3, ASC, caspase-1, IL-1β, p-NF-κB, NF-κB, p-IκBα, and IκBα were detected with Western blotting.</p><p><b>RESULTS</b>GA obviously decreased serum levels of uric acid and creatinine, decreased inflammatory cytokines in the serum and kidney, ameliorated renal pathologies and inhibited the expressions of NLRP3, ASC, caspase-1, IL-1β, p-NF-κB, and p-IκBα proteins in MRL/lpr mice.</p><p><b>CONCLUSION</b>GA has protective effects against lupus nephritis in MRL/lpr mice.</p>

Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients.</p><p><b>METHODS</b>The primary mtDNA mutations (3460A, 11778A and 14484C) of 156 patients (110 probands and 46 maternal relatives with LHON) were detected by mutation-specific priming polymerase chain reaction, heteroduplex-single strand conformation polymorphism polymerase chain reaction, restriction fragment length polymorphisms and measurement of DNA sequence. The clinical features were analyzed by retrospective study.</p><p><b>RESULTS</b>The 11778A mutation was found in 100 probands (90.9%), the 3460A mutation was found in 2 (1.8%), and the 14484C was found in 8 (7.3%) of the 110 probands. The visual acuity at onset of the disease was 0.01 or worse in 44 (17.6%) of 250 eyes with the 11778A mutation, but in none of 79 eyes with the 14484C mutation. The visual acuity was 0.1 or better in 76 (29.6%) of 250 eyes with the 11778A mutation, but in 49 (87.3%) of 56 eyes with the 14484C mutation. And 6.8% of 250 eyes with the 11778A mutation recovered a mean final visual acuity of 0.03, whereas 50% of 56 eyes with the 14484C mutation recovered a mean final visual acuity of 0.8.</p><p><b>CONCLUSION</b>In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.</p>

The SNPs analysis of encoding sequence of interacting factor gene in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen the variations of TG interacting factor(TGIF) gene in encoding sequence in Chinese high myopia patients and normal controls and to analyze the SNPs of TGIF gene encoding sequence in Chinese population.</p><p><b>METHODS</b>Genomic DNA was collected from 204 probands with high myopia and 112 unrelated persons without high myopia. The coding sequences of TGIF gene in 316 subjects were analyzed by using exon-by-exon PCR heteroduplex-SSCP analysis and sequencing.</p><p><b>RESULTS</b>There were 3 types of SNP and one single nucleotide mutation in the coding sequence of TGIF gene: IVS-2 nt350 G --> T(36/204), codon140 CCA --> CCG; Pro140Pro codon163 CCG --> CTG;Pro163Leu and codon126 GTG --> GCG; Val126Ala(1/204). The SNPs of codon140 CCA --> CCG and codon163 CCG --> CTG were composed of 3 alleles and 5 genotypes in Chinese population which abide by Hardy-Weinberg law.</p><p><b>CONCLUSION</b>There was no evidence to prove that mutations in the TGIF gene are responsible for the high myopia in Chinese. Three SNPs of coding sequence TGIF gene in Chinese population abide by Hardy-Weinberg law.</p>