Variations in nucleotide excision repair pathway genes may predispose to initiation of cancers. However, polymorphisms of ERCC1/XPF genes and neuroblastoma risk have not been investigated before. To evaluate the relevance of polymorphisms of ERCC1/XPF genes in influencing neuroblastoma susceptibility, we genotyped four polymorphisms in ERCC1/XPF genes using a Chinese population of 393 cases and 812 controls. The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR) = 1.94, 95% confidence interval (CI) = 1.30–2.89, P = 0.0012; CC vs. AA: adjusted OR = 2.18, 95% CI = 1.45–3.26, P = 0.0002 for rs2298881, and AG vs. GG: adjusted OR = 1.31, 95% CI = 1.02–1.69, P = 0.038 for rs11615]. Moreover, XPF rs2276466 was also associated with increased neuroblastoma risk (GG vs. CC: adjusted OR = 1.66, 95% CI = 1.02–2.71, P = 0.043). In the combined analysis of ERCC1, we found that carriers with 2–3 risk genotypes were more likely to get risk of neuroblastoma, when compared to those with 0–1 risk genotype (adjusted OR = 1.75; 95% CI = 1.25–2.45, P = 0.0012). Our study indicates that common genetic variations in ERCC1/XPF genes predispose to neuroblastoma risk, which needs to be further validated by ongoing efforts.

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ADD1 Adducin 1 (a) ADRB2 b 2 -adrenergic receptor APOE Apolipoprotein E eNOS3 Endothelial nitric oxide FGB Fibrinogen b-polypeptide IL-6Interleukin-6 LTA TNF-b lymphotoxin a precursor MTHFR Methylenetetrahydrofolate reductase PAI1 Plasminogen activator inhibitor 1 TNF-a Tumour necrosis factor-a AIM The aim of our meta-analysis was to summarize quantitatively the association of genetic polymorphisms with cerebral palsy (CP).METHOD We identified 16 studies on the association of genetic polymorphisms with CP in Pubmed, Elsevier Science Direct, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, and Wanfang. Eleven of these studies (involving a total of 2533 cases and 4432 controls) were used in the current meta-analysis. A study was included if (1) it was published up to September 2010 and (2) it was a case-control study. We excluded one study of family members because the analysis was based on linkage considerations. Meta odds ratios and 95% confidence intervals based on fixed-effects models or random-effects models were dependent on Cochran's Q statistic. We examined the relationship between alleles, as well as genotypes and susceptibility to CP.

BackgroundThe Autism-Spectrum Quotient (AQ) is widely used to quantify autistic traits, which have been evaluated in the parents of individuals with autism spectrum disorders (ASD) and in the general population. This paper’s objective was to investigate the AQ's psychometric properties of the Chinese version for mainland China and to establish whether the pattern of sex differences in the quantity of autistic traits exists. We also examined the usefulness of the AQ in differentiating between individuals with ASD, schizophrenia (SCH), obsessive-compulsive disorder (OCD) and healthy controls (HC).MethodsIn this study, the psychometric properties of the AQ were assessed in 1037 parents of children with ASD and in 1040 parents of typically developing children (TDC). Additionally, 32 participants with ASD, 37 patients with SCH, 38 OCD patients and 38 healthy controls (matched for age, gender and IQ) were assessed with the AQ.ResultsThe internal consistency and test-retest reliability of the AQ and AQ subscales were within an acceptable range. Parents of ASD children scored higher than TDC parents on total AQ and AQ subscales, and TDC parents scored more than parents of ASD children on 2 items of 50. Fathers scored higher than did mothers on total AQ and four subscales, with the sole exception being the subscale attention to detail. The total AQ score of the ASD group was higher than that of the SCH, OCD and HC groups, and the total AQ score of the HC group was significantly lower than that of the SCH and OCD groups, with no differences being observed between the SCH and OCD groups.ConclusionsThe Mandarin AQ demonstrated promising psychometric properties and was a reliable instrument for quantifying autistic traits in both clinical and non-clinical samples in mainland China.

Although individuals with autism spectrum disorders (ASD) and schizophrenia (SCH) share overlapping characteristics and may perform similarly on many cognitive tasks, cognitive dysfunctions common to both disorders do not necessarily share the same underlying mechanisms. Decision-making is currently a major research interest for both ASD and SCH. The aim of the present study was to make direct comparisons of decision-making and disorder-specific underlying neuropsychological mechanisms between the two disorders. Thirty-seven participants with ASD, 46 patients with SCH, and 80 healthy controls (HC) were assessed with the Iowa Gambling Task (IGT), which measures decision-making under ambiguity, and the Game of Dice Task (GDT), which measures decision-making under risk. The results revealed that both the ASD and SCH groups had deficits for both the IGT and the GDT compared with the HC. More importantly, in the IGT, participants with ASD displayed a preference for deck A, indicating that they had more sensitivity to the magnitude of loss than to the frequency of loss, whereas patients with SCH displayed a preference for deck B, indicating that they showed more sensitivity to the frequency of loss than to the magnitude of loss. In the GDT, the impaired performance might be due to the deficits in executive functions in patients with SCH, whereas the impaired performance might be due to the deficits in feedback processing in participants with ASD. These findings demonstrate that there are similar impairments in decision-making tasks between ASD and SCH; however, these two disorders may have different impairment mechanisms.

Autistic spectrum disorder (ASD) is a neurodevelopmental disorder and has a high prevalence in children. Recently, mitochondrial oxidative stress has been proposed to be associated with ASD. Besides, SIRT1/PGC-1α signaling plays an important role in combating oxidative stress. In this study, we sought to determine the role of SIRT1/PGC-1α signaling in the ASD lymphoblastoid cell lines (LCLs). In this study, the mRNA and protein expressions of SIRT1/PGC-1α axis genes were assessed in 35 children with ASD and 35 healthy controls (matched for age, gender, and IQ). An immortalized LCL was established by transforming lymphocytes with Epstein–Barr virus. Next, we used ASD LCLs and control LCLs to detect SIRT1/PGC-1α axis genes expression and oxidative damage. Finally, the effect of overexpression of PGC-1α on oxidative injury in the ASD LCLs was determined. SIRT1/PGC-1α axis genes expression was downregulated at RNA and protein levels in ASD patients and LCLs. Besides, the translocation of cytochrome c and DIABLO from mitochondria to the cytosol was found in the ASD LCLs. Moreover, the intracellular reactive oxygen species (ROS) and mitochondrial ROS and cell apoptosis were increased in the ASD LCLs. However, overexpression of PGC-1α upregulated the SIRT1/PGC-1α axis genes expression and reduced cytochrome c and DIABLO release in the ASD LCLs. Also, overexpression of PGC-1α reduced the ROS generation and cell apoptosis in the ASD LCLs. Overexpression of PGC-1α could reduce the oxidative injury in the ASD LCLs, and PGC-1α may act as a target for treatment.

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In the Blast Furnace (BF) process, the viscous behaviors of molten slags are essential to the efficiency and the productivity of operations. In this work, the effects of CaO/SiO 2 and Al 2 O 3 on the viscosity, activation energy for viscous flow, and break point temperature of titanium-bearing BF slags are analyzed. To connect the viscosity and the slag structure, Fourier transform infrared spectroscopy (FTIR) is performed on the as-quenched slags. It is found that the viscosity and the activation energy for viscous flow of slags decrease as the CaO/SiO 2 content increases from 1.00 to 1.20 and increase with increasing the Al 2 O 3 content from 11.00 to 15.00 wt%. As for the break point temperature, it raises when the CaO/SiO 2 and the Al 2 O 3 content increases. FTIR results reveal that the polymerization degree of complex viscous units in the slag decreases as the CaO/SiO 2 increases. However, it is opposite when the Al 2 O 3 content increases. The variation of viscosity and activation energy for viscous flow for the different CaO/SiO 2 and Al 2 O 3 content slags are explained.