Objective To achieve the fusion expression of the entire human beta-defensin-3(hBD-3) gene. Method We synthesized two oligonucleotide primers accor ding to the codon preference of Escherichia coli. The gene was cloned into p GEX -4T-2 to establish the pGEX-4T-2-hBD-3 as the fusion expression vector by PCR. Transformed into E.coli strain DH5α, the express vector was induced an d ex pressed by IPTG. The fusion protein GST-hBD-3 was obtained by repeated cycles of freezing and thawing, cut by thrombin to attain the recombinant hBD-3 protei n. Result The result of the antibacterial peptide agarose diffu sion assay shows the antibacterial activity of the rhBD-3 against the S.aureu s exists, and it reaches 0.843U. Conclusion The fusion expr ession of the hBD-3 gene is successful.

Objective To summarize the first experience with ultrasound-guided percutaneous ab lation treatment (PAT) for recurrent hepatoblastoma (HB) after liver resection in children.Methods From August 2013 to April 2015,PAT was used to treat 6 children with a total of 9 recurrent HB,including 5 patients with 8 tumors in the liver and 1 patient with 1 tumor in the lung.The mean size of ablated tumors was (1.5 ± 0.8) cm,and the tumor size range was 0.7 cm to 3.1 cm.Results Four patients were performed percutaneous radiofrequency ablation (RFA) for recurrent HB;and 2 patients were performed percutaneous ethanol injection (PEI).Ablation success was achieved in all patients (6/6,100％).The complete ablation rate after the first ablation session was 88.9％ (8/9) on a tumor-by-tumor basis.Only 1 patient developed a fever with temperature ＞ 39 ℃;it was resolved by conservative therapy.During the follow-up period of 5-30 months,3 patients died to tumor progression.The 1-and 2-year overall survival rates after ablation were 83.3％ and 41.7％,respectively.Conclusions PAT is a safe and promising therapy for children with recurrent HB after liver resection,and further investigation in large-scale randomized clinical trials is required to determine its role in the treatment of this disease.

OBJECTIVE: To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants. METHODS: Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing. RESULTS: The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic. CONCLUSION Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.
China ; Ectodermal Dysplasia ; genetics ; Facies ; Failure to Thrive ; genetics ; Genetic Association Studies ; Genetic Variation ; Heart Defects, Congenital ; genetics ; Heterozygote ; Humans ; Infant ; MAP Kinase Kinase 1 ; genetics ; Male ; Mutation ; Whole Exome Sequencing