Objective To study the expression levels of aerobic glycolytic enzymes in the cerebellums and its correlation with pathogenesis of autism in patients with autism. Methods The Western blotting was used to quantita-tively examine the expression levels of aerobic glycolytic enzymes, including HK-Ⅰ, HK-Ⅱ, PFKP, PKM1/2, PKM2, GAPDH, PDH and LDHA in the cerebellums of eight patients with autism and eight age-matched controls. Results Compared to controls, PDH expression was significantly decreased [(0.715±0.342) vs.(1.028±0.203), P=0.043], while expression of other seven aerobic glycolytic enzymes remained unchanged ( P>0 . 05 ) in the cerebellums of patients with autism. Conclusion The present study has revealed a decrease in the expression of PDH in the cerebellums of patients with autism, which may be involved in the pathologic process of autism.

Objective Gamma amino butyric acid (GABA) signaling pathway related genes mRNA expression and promoter methylation of GABRB2 gene in peripheral blood were investigated to explore the mechanisms involved in schizophrenia (SZ) and antipsychotics treatment. Methods DNA was isolated from blood samples of 53 SZ patients and 53 gender-and age-matched healthy controls. 12 out of 25 SZ patients were followed 8 weeks antipsychotic treatment. The quantitative GABRB2 promoter methylation was analyzed using the high-throughput mass spectrometry on matrix-as?sisted laser desorption/ionization time-of-flight (MALDI-TOF) mass array before and after treatment. Results The GA?BRB2 promoter methylation pattern of case and control group was not significantly different (P>0.05). However, signifi?cant differences of the methylation levels of CpG_28 in the GABRB2 promoter between two groups were found in males [(0.215±0.084) vs. (0.264±0.103), P<0.05]. After 8 weeks antipsychotics treatment, a significant decrease of GABRB2 pro?moter methylatin was detected in the patients [(0.088±0.037) vs. (0.121±0.063), P<0.01]. Conclusion A down regulation of GABRB2 promoter methylation in blood of SZ patients after-treatment supports that GABRB2 promoter methylation in blood may be associated with the mechanisms of antipsychotics treatment in SZ.

Objective:To explore the clinical features of subtyp es of ADHD in DSM-Ⅳ.Method:126 children fulfilled ADHD criteria of D S M-Ⅳ were further divided into 3 subtypes:predominantly inattentive(PI,61 cases) , predominantly hyperactive-impulsive(HI,9 cases)and combined type(CT,56 cases).C om orbid mental disorders were compared among the three groups.Parents and teacher s of children in each group completed CBCL(child behavior checklist)and TRF(teach er's report form).CWISC(Wechsler intelligence scale for children,Chinese versio n )and attention tests were also applied in each group.Results:Childr e n in CT group had more conduct disorder,more externalizing,delinquent and aggres sive behaviors rating by parents and teachers,and more inattentive than children in PI group.School performance of children in PI group was better than that of the other two groups evaluated by teachers.Conclusion:ADHD CT subty pe had highest rate of comorbid conduct disorder.They have more externalizing b ehavior,more academic problems and more inattentive.This subtype may be the mos t impaired subtype.

Objective To explore the association between the polymorphisms of TSC1,TSC2,PTEN genes and autism in Chinese Han population.Methods 274 autism patients and 386 heahh controls were recruited,and SnaPshot technique was used to genotype the 13 tagSNPs of TSC1,TSC2 and PTEN genes.The allele,genotype and haplotype frequencies of the SNPs were compared using SHEsis and SNPStats softwares.Results Mter Bonferroni correction,the allele distribution of rs2809244 (TSC1) (x2 =9.537,P=0.002,adjusted P=0.016),rs1050700 (TSC1) (x2 =9.313,P=0.002,adjusted P=0.016),rs2072314(TSC2) (P＜0.01,adjusted P＜0.01) and rs8063461 (TSC2) (P＜0.01,adjusted P＜0.01)showed significant difference between two groups (P＜0.05).The genotype frequencies of rs2072314(TSC2)and rs8063461(TSC2) showed significant difference between two groups(P＜0.05).Moreover,the frequency of haplotype A-G (OR =14.548,95％ CI =5.450-38.830) in the haplotype block rs2809244-rs3761840 showed significant difference between two groups(P＜0.05),A-G significantly increases the risk of autism.The frequencies of haplotype A-A (OR=0.608,95％ CI =0.409-0.903,P=0.013),G-A (OR=7.812,95％ CI =5.338-11.459,P＜0.01)and G-G (OR=0.356,95％ CI =0.274-0.463,P＜0.01) in the haplotype block rs2074969-rs8063461 were identified,which were significant difference between two groups(P＜0.05),and AA and G-G significantly reduced but G-A increased the risk of autism.Conclusion The polymorphisms of TSC1 and TSC2 genes might associate with autism in Chinese Han population.

Objective To explore the correlation of single nucleotide polymorphism (SNP) with PTEN gene involving in mammalian target of rapamycin (mTOR) C1 signaling genes polymorphisms and autism in children.Methods A total of 97 cases with autism were enrolled from Mar.2011 to Dec.2012 in this study,who came from the child and adolescent out-patient department in Shanghai Mental Health Center of Shanghai Jiaotong University School of Medicine.Single SNP association and haplotype association analysis were performed using the family-based association test and Haploview software.Results 1.In a family-based association test,two SNPs showed significant association with autism(rs17107001 G:Z =2.982,P =0.003 ; rs2299941 G:Z =2.524,P =0.012).After the correction of false discovery rate,they all remained significant.2.Haplotype association analysis showed significant transmission disequilibrium in haplotype T-T-G and C-T-A generated from rs532678-rs17562384-rs2299941 (block2) in LD Block,and haplotype T-T-G was over transmitted to offspring(Z =-2.986,P =0.003) while haplotype C-T-A was the opposite (Z =-2.197,P =0.028).Conclusion The SNPs of PTEN genes might have a correlation with autism in children.

Objective To investigate the relationship between cognitive function of first-episode schizophrenic patients and dopamine D1 receptor gene. Methods A total of 112 first-episode schizophrenic patients and 60 healthy controls were evaluated with Wechsler adult intelligence scale ( WAIS-R), Wechsler memory scale (WMS) and Wisconsin card sort test (WCST) ,and genotyped one polymorphism (rs4532) within DRD1 gene using TaqMan SNP genotyping assay. Results There were no significant differences on the frequencies of the genotypes and alleles of rs4532 polymorphism between patients with schizophrenia and normal controls ( x2 =2.90, P=0.35; x2 = 0.01, P= 0. 93 ). There were significant differences in all index of WCST between two groups (P ＜0.01 ). Patients with rs4532G allele had worse WCST performance than those without G allele ((60.9 ± 13.2)%vs (44.9 ±21.3)%, t=4.79, P=0.00002). Conclusion Rs4532 polymorphism of DRD1 gene may be associated with executive function impairment in schizophrenic patients.

There are trillions of microbes in human gut, which are related to health and diseases closely.In recent years, with the popularization of the concept of microbiome-gut-brain axis, the influence of intestinal microbiota on central nervous system diseases has drawn increasing attention.Gastrointestinal symptoms are common in children with autism spectrum disorder(ASD), and some studies have also indicated that correcting the dysbiosis of gut microbiome can not only improve the gastrointestinal problems, but also alleviate the symptoms of autism to some extent.Therefore, the relationship between intestinal microbes and ASD has attracted researchers′ attention.This review focuses on several kinds of gut microbesmicrotes that have been extensively studied to reveal the relationship between the microbesmicrotes and autism spectrum disorders and their potential pathogenic or protective mechanisms.

Objective To investigate the clinical and histopathologic features of patients with primary gastrointestinal malignant lymphoma ( PGIML). Methods The clinical and histopathologic data of 22 patients with PGIML were reviewed and analyzed retrospectively. All cases were confirmed with histological specimen obtained from endoscopic biopsies or surgery. Results Abdominal pain was the most common presenting symptom, seen in 15 of 22 patients (68.2% ). The incidence of PGIML was highest in stomach, seen in 12 of 22 patients (54. 5% ). Modularity of the mucosal surface was the most common endoscopic finding, seen in 15 of 21 patients (71. 4% ). The positive rate of endoscopic biopsy for the diagnosis of PGIML was 52. 6% (10/19 biopsy cases). All cases were non-Hodgkins lymphomas ( NHL). Twenty cases were muco-sa associated lymphoid tissue (MALT) lymphoma, and 13 of 20 cases were extra-nodal marginal zone B-cell lymphoma of MALT. Conclusions Abdominal pain is the most common symptom and the stomach was the most common location in PGIML. Extra nodal marginal zone B-cell lymphoma of MALT is the main histopathologic feature. The prognosis of PGIML is related to the surgical procedure and the post operative chemotherapy.

Objective: To establish the method of percutaneous endoscopic gastrostomy(PEC) and percutaneous endoscopic jejunostomy (PEJ) for enteral nutrition. Methodes: PEG tubes were placed in 114 patients with Pull method. On the foundation of PEG, PEJ tubes were placed in 26 patients by pushing endoscopy to send tubes through Treitz ligment with usingthe the clip. Results: All PEG insertion was performed successfully. PEJ tubes were placed successfully with a new method in 26 patients. 15 patients had a little blooding and 8 patients had slight infection. 21 patients had respiratory tract infection and had been cured by using antibiotic. There was no severe complication. Conclusion: PEG is simple、safe、efficient. The new method of PEJ is feasible.

Objective To explore the relationships between neuronal nicotinic acetylcholine receptor subunit gene polymorphisms and type 2 diabetes in Chinese han schizophrenics.Methods Five single nucleotide polymorphisms(SNPs )of CHRNA3 (rs1317286),CHRNA4 (rs1044396),CHRNA 7 (rs6494212) and CHRNA5 (rs16969968,rs684513) gene were analyzed in a sample of 346 schizophrenics with type 2 diabetes and 360 schizophrenics without type 2 diabetes.The five markers were genotyped by the TaqMan fluorogenic detection method with the ABI7900.Results There were no significant differences in alleles and genotypes distribution of the five genes between two groups (P＞0.05).For the CHRNA 7(rs6494212),there were significant difference in genotypes (P=0.039) and alleles distribution (P＜0.021) between two groups in male patients.The haplotypes constructed by markers of CHRNA5 were not associated with the 2 diabetes in Chinese Han male schizophrenics.The interaction analysis revealed a significant association between models made up by rs1317286,rs1044396,rs6494212,rs684513and 2 diabetes in Chinese Han male schizophrenics (P=0.002).Conclusion The CHRNA7(rs6494212) gene may be one of common susceptible genes for 2 diabetes in Chinese Han male schizophrenics.There is a significant association between models made up by rs131726rs1044396,rs6494212,rs684513 and schizophrenics with type 2 diabetes.