Objective:To explore the application value of transcranial magnetic stimulation combined with language training for children with language retardation.Methods:100 children with language retardation who were treated in our hospital from March 2015 to March 2016 were selected as the research object.They were divided into control group and observation group according to the random number table method,50 cases in each group.The control group was treated with routine language training,while the observation group was treated with transcranial magnetic stimulation combined with language training.The treatment of the two groups were 3 months.The therapeutic effects were evaluated by the language development in Chinese children assessment method and the changes of developmental quotient before and after treatment were evaluated by the neuropsychological development test for children.Results:The effective rate of the observation group was 98.0％,which was significantly higher than 87.0％ of the control group (P＜0.05).Compared with before treatment,the language development quotient and development quotient of the two groups after treatment for 1,2 and 3 months were significantly improved,and the observation group was significantly better than the control group (P＜0.05).The normal rate of the observation group was 80.0％,which was significantly higher than 66.0％ of the control group (P＜0.05).Conclusion:The effect oftranscranial magnetic stimulation combined with language training is ideal,which can effectively improve the developmental quotient of children with language retardation,and it is worth promoting in clinical practice.

OBJECTIVETo analyze chromosome aberration in a child with mental retardation and abnormalities and its parents.

METHODSChromosome G banding, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization and single nucleotide polymorphisms array were employed for analysis.

RESULTSKaryotype analysis revealed that the child was 46,XX and the father was 46,XY, while the mother was 46,XX, add (12)(p13). Subtelomeric region analysis with MLPA displayed that the child has reduced ACP1 gene copy number in 2p25 region and increased SLC6A12,KDM5A gene copy numbers in 12p11 region. SNP-array has fine mapped the duplication to 12p13.33-p12.3, a 15.142 Mb region, and a deletion to 2p25.3 for 3.194 Mb, which resulted in duplication of 9 genes including SLC6A12 as well as deletion of 11 genes including SNTG2, respectively. FISH analysis revealed that the child was 46,XX,ish,der(2),t(2;12)(p25;p13)mat, or partial monosomy 2p25 and partial trisomy 12p13. In addition,the mother was a carrier with cryptic balanced translocation chromosome, 46,XX,isht(2;12) (p25;p13). Mental abnormalities and retardation of the child may be attributed to heterozygous deletion of SNTG2, MYT1L genes and duplication of SLC6A12 gene.

CONCLUSIONCombined use of MLPA, FISH and SNP-array can facilitate accurate diagnosis of cryptic rearrangement at genomic level.

Adolescent ; Adult ; Carrier Proteins ; genetics ; Child ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 12 ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Female ; Gene Rearrangement ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Male ; Pedigree ; Protein Tyrosine Phosphatases ; genetics ; Proto-Oncogene Proteins ; genetics ; Translocation, Genetic ; Trisomy ; Young Adult

Objective: To investigate the effects of miRNA on the expression of paraoxonase 1 (PON1) and its clinical application in the patients with nonalcoholic steatohepatitis (NASH). Methods: Bioinformatics methods were used to analyze and predict PON1 related regulation on miRNA. PON1 luciferase reporter gene vectors were constructed and the activity of dual luciferase was analyzed. The up/down-regulated levels of miRNA in HepG2 cells of different groups were detected by real-time fluorescence quantitative PCR (qRT-PCR), and the levels of PON1 protein in HepG2 cells were detected by western blot. The levels of miR140-5p in the serum of healthy people and NASH patients were also analyzed by qRT-PCR. Results: According to the prediction of TargetScan database, miR140-5p may bind complementarily to the end of PON13′-UTR. The analysis for the activity of dual luciferase reporter gene showed that miR-140-5p mimic significantly downregulated the fluorescence of wild type PON1 vector (P＜0.01). The results of qRT-PCR demonstrated that miR-140-5p mimic group showed high overexpression (P＜0.01) compared with the normal cell control group and the negative mimic control group, while miR-140-5p inhibitor group appeared corresponding low expression (P＜0.05). western blot results suggested that the transfection of miR140-5p mimic significantly down-regulated the expression of PON1 (P＜0.01) while miR140-5p inhibitor up-regulated this expression (P＜0.01). Compared with the healthy control group, the level of miR140-5p was decreased in the serum of NASH patients, and the difference was statistically significant (P＜0.01). Conclusion miR140-5p may be involved in the progression of nonalcoholic steatohepatitis through regulation for the posttranscriptional gene expression of PON1.