Objective To investigate the effect of PDLIM4 (PDZ and LIM domain 4) gene on the prognosis and radiosensitivity of glioma. Methods The differentially expressed genes were analyzed by bioinformatics technique using GSE53733 gene chip. The expression of PDLIM4 protein was detected by Western blot. The effects of PDLIM4 gene on glioma prognosis and glioma cell radiosensitivity were studied by using real-time fluorescence quantitative PCR, siRNA, MTT and cell flow cytometry assays. Results PDLIM4 gene had the most significant differential expression in the chip (logFC=1. 055897, P<0. 05). The PCR assay of 40 glioma cases in our hospital confirmed that expression of PDLIM4 showed obvious difference between high- and low-grade gliomas (t =4. 44, P <0. 05), which was correlated with the survival of patients (χ2 =5. 52, P<0. 05). Moreover, PDLIM4 gene was involved in radioresistance of glioma cells (t = 35.99, P < 0.05). Conclusions PDLIM4 gene expression level correlates with malignant degree and prognosis of glioma and also contributes to cell radioresistance.

OBJECTIVE: To explore the genetic basis for a child with optic atrophy and global developmental delay. METHODS: A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4). CONCLUSION The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
Female ; Humans ; Infant ; Computational Biology ; COUP Transcription Factor I/genetics* ; Genetic Testing ; Genomics ; Genotype ; Optic Atrophy/genetics*

With the promotion and popularity of minimally invasive surgery and instruments,minimally invasive technologies have been widely used in the diagnosis and treatment of liver disease. In the past decade,with the development of relevant instruments ,improvement of skills ,and perfection of theories,the concept of individualized minimal invasion and precision has been popularized. Minimally invasive liver surgery is moving toward the goal of innovation-driven high-quality development.

With the promotion and popularity of minimally invasive surgery and instruments,minimally invasive technologies have been widely used in the diagnosis and treatment of liver disease. In the past decade,with the development of relevant instruments ,improvement of skills ,and perfection of theories,the concept of individualized minimal invasion and precision has been popularized. Minimally invasive liver surgery is moving toward the goal of innovation-driven high-quality development.

Objective To investigate the expression and biological value of heme oxygenase I (HO-1) in gliomas. Methods Fifty-six patients with gliomas, admitted to and accepted surgery in our hospital from January 2010 to January 2015, were chosen in our study; WHO grade I was noted in 4 patients, grade Ⅱ in 16, grade Ⅲ in 10, and grade IV in 26 patients; patients with grade I and Ⅱ were as low-grade glioma group and patients with grade Ⅲ and IV were as high-grade glioma group. The HO-1 expression in the two groups was detected by immunohistochemistry. R-langrage survival tool was used to analyze the relation between HO-1 expression and prognosis of 1107 patients with gliomas selected from The Cancer Genome Atlas (TCGA) database. Results Significant differences of HO-1 expression were observed in different grades of gliomas (P<0.05), and HO-1 high-expression rate in the high-grade gliomas (75%) was significantly higher than that in the low-grade group (30%, P<0.05). HO-1 protein expression level in the high-grade gliomas was significantly higher than that in the low-grade group (P<0.05). Moreover, area under the curve (AUC) of the receiver operating characteristic curve was suggested that the HO-1 could be an ideal determine factor (AUC=0.747, P=0.002). Log rank analysis indicated that the accumulate survival rate in patients with low HO-1 expression was significantly higher than that in patients with high HO-1 expression (P<0.05). TCGA database analysis showed that simultaneous survival rate in patients with low HO-1 expression was significantly higher than that in patients with high HO-1 expression (P<0.05). Conclusion Expression of HO-1 is correlated with the malignant degrees and prognoses of gliomas, and it has potential to be a novel biological marker for the diagnosis and treatment of gliomas; furthermore, HO-1 could also be a target for the study and treatment of gliomas.

Objective:To explore genes related to costimulatory molecule related to the prognosis of bladder cancer,and to construct and evaluate prognosis model based on costimulatory molecule-based signature(CMS).Methods:Gene expression matrix and clinical information of bladder cancer patients were downloaded from TCGA database and GEO database(GSE31684),and costimulatory molecule-related genes were retrieved from the literature.The univariate and multivariate Cox analysis were used to screened prognostic-related genes and constructed prognostic model.Forecast accuracy of model was verified in TCGA training group,TCGA validation data group and GEO group by Kaplan-Meier survival analysis and receiver operating characteristic curve(ROC).Considering risk score and clinical characteristics,we constructed a nomogram and evaluated its performance by consistency analysis and ROC.CIBERSORT algorithm was used to analyze immune cell composition of tumor microenvironment infiltration,and gene set enrichment analysis(GSEA)was performed to explore the potential mechanism.Results:Four prognostic-related CMSs were found:TNFRSF14,CD276,ICOS and TMIGD2,of which three were included in the risk score construction.Multivariate Cox regression results showed that the risk score based on CMS was an independent prognostic factor for bladder cancer patients.Consistency analysis and ROC results showed that the nomogram had ideal prognosis prediction accuracy.Immune infiltration analysis showed that the high risk group was likely to be in immunosuppressive state.GSEA results suggested that genes in high risk group were enriched in extracel-lular matrix(ECM)receptors interaction,cell cycle and other pathways.Conclusion:TNFRSF14,CD276 and ICOS may be potential prognostic biomarkers for bladder cancer patients.CMS-based risk score and nomogram could contribute to early prognosis and choice of personalized treatment.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
Child, Preschool ; Female ; Humans ; Computational Biology ; Developmental Disabilities ; Epilepsy/genetics* ; Genetic Testing ; Homozygote