Objective: To explore the comprehensive effects of folic acid (FA), riboflavin (RF) and MTHFR C677T polymorphism on genomic stability. Method: Cytokinesis-block micronucleus assay was used to detect the effects of different concentration combination of FA (20 and 200nmol/L, i.e. LF and HF) , RF (1 and 500 nmol/L, i.e. LR and HR) and MTHFR C677T polymorphism on genomic stability of 9 d cultured human lymphocytes. Results: The genetic damage was significantly higher in LFHR group regardless the genotype (P

12 ?mol/L.

Objective To assess the safety and efficacy of mycophenolate mofetil (MMF) combined with low dose corticosteroid in the treatment of adults with minimal change nephrotic syndrome and concomitant HBsAg positive (MCNS-HBsAg). Methods Thirty adults with MCNS-HBsAg were enrolled in this prospective study and were assigned to two groups. The MMF group (n=14) received low dose of prednisone combined with MMF (MMF 1.0 to 2.0 g/d patients of Pred group versus 35.7% patients of MMF group. 43.8% patients of Pred group versus 21.4% patients of MMF group received lamivudine therapy. Elevation of alanine aminotransferase(ALT) ocurred in 50% patients of Pred group and 28.6% patients of MMF group. The complete remission (CR) rate after 24 weeks treatment was 11/14 in Pred group versus 10/12 in MMF group. 6/11 patients of the Pred group and 4/10 patients of the MMF group who achieved CR experienced relapses during follow-up. Conclusions Use of MMF combined with low dose prednisone is as effective as conventional prednisone regimen in treating adults with MCNS-HBsAg. The MMF protocol seems to be superior in HBV reactivation to conventional prednisone protocol.

The research team on the National Key Scientific Program of China: "Transcriptomic regulation and molecular mechanism research of polygenic tumor at different stages" has focused on the field of transcriptomics of 4 common polygenic tumors, including nasopharyngeal carcinoma(NPC), breast cancer, colorectal cancer, and glioma. Extensive laboratory work has been carried out on the expression and regulation of tumor transcriptomics; identification of tumor suppressor/susceptible genes; mechanism of tumor epigenetics including miRNAs, and comparative study of specific gene/protein cluster of tumor transcriptomics and proteomics. Genes including SPLUNC1, LTF, BRD7, NOR1, BRCA1/2, PALB2, AF1Q, SOX17, NGX6, SOX7, and LRRC4 have been identified as the key transcriptional regulation genes during the stage of tumor initiation and invasion. Accordingly,the NPC gene signal regulation network of "SPLUNC1-miR-141-target genes", the breast cancer interaction signal pathway of "miR-193b-uPA",the glioma signal network of "miR-381- LRRC4-MEK/ERK/AKT", and the miRNA-target gene network of colorectal cancer metastasis related gene NGX6 have been thoroughly elucidated. These fruitful Results imply that the changes of key molecules in crucial signal pathway will cause severe dysfunction in signal transduction and gene regulation network in polygenic tumors, indicating that in the category of pathogenesis,these tumors may further classify as the "Disease of gene signal transduction and gene regulation network disorder". The researches have laid solid foundation for revealing the molecular mechanism and transcriptomic regulation of polygenic tumors at different stages.
Animals ; Brain Neoplasms ; genetics ; pathology ; Breast Neoplasms ; genetics ; pathology ; Colorectal Neoplasms ; genetics ; pathology ; Gene Expression Regulation, Neoplastic ; Gene Regulatory Networks ; Glioma ; genetics ; pathology ; Humans ; MicroRNAs ; genetics ; Multifactorial Inheritance ; Nasopharyngeal Neoplasms ; genetics ; pathology ; Neoplasm Proteins ; genetics ; Neoplasm Staging ; Neoplasms ; genetics ; Transcription, Genetic ; Transcriptome ; Tumor Suppressor Proteins ; genetics

【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.