Analysis of diagnosis of 5 children with suspected neuronal ceroid lipofuscinosis / 中国实用儿科杂志

OBJECTIVE: To investigate diagnosis of children's neuronal ceroid lipofuscinosis(NCL),especially the significance of gene diagnosis. METHODS: The clinical data of 5 cases of suspected NCL in our hospital from January 2013 to January 2017 were retrospectively analyzed. There were 3 boys and 2 girls,2 of whom were sister and brother. The age of onset ranged from 3 years and 4 months to 8 years and 1 month,averaged 5 years and 9 months. The first visit to our hospital ranged from 3 years and 6 months to 14 years,with an average of 8 years and 1 month. DNA of peripheral blood was extracted from 4 children with abnormal imaging and their parents and brothers,and the related genes were detected.RESULTS: Four cases of children were diagnosed with NCL,and 1 case was diagnosed with hysteria;gene detection showed:case 1:TPP1 gene c.887-17 A>G was a shearing variant,and c.646 G>A was a missense mutation;case 2:TPP1 gene c.1015＿1016 del was frameshift mutation,and c.640 C>T was nonsense mutation;the nucleotide of case 3:CLN6 gene changed to c.158 T>C(p.L53 P)and c.889 C>T(p.P297 S). The parents of the 3 cases only carried one of the heterozygous variants,and the brother of case 3 had no mutation. Heterozygous mutation existed in case 4:CLN3 gene,c.1160＿1169 delCAGCCTACGTinsGC,which was not detected in the mother,and there was the deletion of the paternal sample;there was loss of heterozygosity in the exon E3-E8 of the CLN3 gene,which was the true missing from mother.Five cases were followed up for 15-60 months and there was no death. CONCLUSION: Suspected NCL patients should be checked head MRI,electroencephalogram and gene. The gene mutation leads to NCL,such as TPP1(c.887-17 A>G,c.1015＿1016 del),CLN3(c.1160＿1169 delCAGCCTACGTinsGC),CLN6[(c.158 T>C(p.L53 P) and c.889 C>T(p.P297 S)],are reported for the first time. Genotype is very important for NCL classification and prognosis.

Research development of ginkgo terpene lactones / 中国中药杂志

Ginkgo terpene lactones, as an important active ingredient from Ginkgo leaves, has high medicinal values and has been widely used in clinics. This article would review the researches both at home and abroad, including chemical composition, structure-activity relationship, analytical methods, pharmacological effects, pharmacokinetic characteristics, and so on, providing a reference for further development and utilization of ginkgo terpene lactones.

Identification of saponins from Panax notoginseng in metabolites of rats / 中国中药杂志

UPLC-QTOF-MS/MS was used to identify metabolites in rat blood, urine and feces after the administration of n-butanol extract derived from steamed notoginseng. The metabolic process of saponins came from steamed notoginseng was analyzed. The metabolites were processed by PeakView software, and identified according to the structural characteristics of prototype compounds and the accurate qualitative and quantitative changes of common metabolic pathways. Four saponins metabolites were identified based on MS/MS information of metabolites, namely ginsenoside Rh₄, Rk₃, Rk₁, Rg₅,and their 15 metabolites were verified. The metabolic pathways of the four ginsenosides in n-butanol extract included glucuronidation, desugar, sulfation, dehydromethylation, and branch loss. The metabolites of main active saponin components derived from steamed Panax notoginseng were analyzed from the perspective of qualitative analysis. And the material basis for the efficacy of steamed notoginseng was further clarified.