To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia.
Purpose: Our aim was to assess the efficacy and safety of miniaturized percutaneous nephrolithotomy (mPCNL) versus standard PCNL (sPCNL) to provide higher-level evidence. Materials and Methods: Eligible randomized controlled trials were identified from electronic databases. The data analysis was performed by the Cochrane Collaboration's software RevMan 5.3. Results: A total of 1,219 patients from 9 articles published between 2004 and 2019 were included. Compared with those who received sPCNL, patients who received mPCNL experienced a higher stone-free rate (SFR) (odds ratio [OR], 1.43; 95% confidence interval [CI], 1.03-1.99; p=0.03), lower transfusion rates (OR, 0.33; 95% CI, 0.17-0.63; p=0.0007), and lower drops in hemoglobin (mean difference [MD],-0.72; 95% CI,-1.04 to-0.40; p<0.00001), but the operative time seemed to be significantly longer (MD, 10.98; 95% CI, 3.64-18.32; p=0.003). Of note, there was no significant difference between the two groups regarding the SFR (p=0.09) for renal calculi ≥2 cm. In addition, the meta-analysis results showed no significant differences between the groups regarding urine leakage (p=0.60), postoperative fever (p=0.71), impaired ventilation (p=0.97), or total complications (p=0.29) with no heterogeneity between trials. These results remain unaffected with regard to renal calculi ≥2 cm. Conclusions: Our findings suggested that mPCNL had a higher SFR than sPCNL and there was no significant difference between the two groups for renal stones ≥2 cm. Besides, mPCNL tended to be associated with significantly less bleeding and a lower transfusion rate, but the duration of the procedure seemed to be significantly longer.
Previous neuroimaging studies of autism spectrum disorder (ASD) have focused on subjects with IQ > 70 or ASD without considering IQ levels. It remains unclear whether differences in brain anatomy in this population are associated with variations in clinical phenotype. In this study, 19 children with low functioning autism (LFA) and 19 children with high functioning autism (HFA) were compared with 27 healthy controls (HC). We found increased gray matter volume (GMV) in the left inferior temporal gyrus in subjects with both HFA and LFA and increased GMV of left middle temporal gyrus BA21 was found only in the LFA group. A significant negative correlation was found between the left inferior temporal gyrus (LITG) and the score of repetitive behavior in the HFA group.
The aim of the study is to compare the spatial working memory and visual perception between children with autism spectrum disorder (ASD) and typically developing control (TDC). Furthermore, this study validated whether this impairment was a feature of autism in general population with different autism-like traits (ALTs). This study contains two parts: case-control study and community population study. The ASD group and the control group were enlisted voluntarily (ASD group, n = 52; control group, n = 32). In the population study, we recruited 2994 children. Based on the scores of Autism Spectrum Quotient (AQ), children were divided into two groups (higher ALTs n = 122, lower ALTs n = 122). The participants completed the cognition tasks focusing on spatial working memory, visual-motor integration, and Intelligence. Analysis of covariance (ANCOVA) was conducted, with potential confounders IQ, age, and gender were controlled. Pearson correlations were computed by controlling the IQ and age as covariate to better understand the relations between visual perception, spatial working memory, and autism-like traits. In the case-control study, the results of cognition tasks focusing on the spatial working memory and visual perception indicated underperformance in children with ASD. In the community population study, we found that individuals with higher ALTs performed worse than children with lower ALTs in spatial working memory. Pearson correlation analysis suggested that a correlation between SWM total errors and visual perception was identified both in the children with ASD and in community population (ASD group, r =-0.592, p<0.001; general population, r =-0.201, p = 0.003). It suggested that spatial working memory deficit was a characteristic of autism, and may be distributed across the general population. Furthermore, we speculated a correlation between spatial working memory and visual perception in children with ASD and in general population.
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