Objective To clarify the pathogenic mutations and provide references for prevention and treatment strategies and prenatal diagnosis by gene detection in 3 pedigrees with autosomal dominant polycystic kidney disease (ADPKD). Methods The family history and clinical data of 3 ADPKD pedigrees who admitted to our department of urology during 2017 and 2020 were collected in this study. The peripheral blood samples of these family members were harvested for DNA extraction. Targeted amplification and high-throughput sequencing was used to screen suspected pathogenic mutations in probands, and then these obtained mutations were verified and analyzed in the probands and their family members by Sanger sequencing. The pathogenicity of these mutations was analyzed with bioinformation analysis and the evaluation criteria of the American Society of Medical Genetics. Results Ultrasound examination showed that all the probands from the 3 families had polycystic kidneys, at the clinical stages of G1, G3a, and G5 respectively. The deletion frameshift mutation c.5933delA (p.Asn1978fs), nonsense heterozygous mutation c.6871C>T (G2291X) and deletion frameshift mutation of c.894_897delCCCT (p.299Sfs*34) in polycystic kidney disease 1 (PKD1) gene were detected in pedigrees 1, 2 and 3, respectively. The above variants in the 3 families were in line with phenotype-genotype separation. Conclusion We identify the pathogenic variants in the 3 pedigrees of hereditary polycystic kidney disease, among which c.5933delA and c.894_897delCCCT are new mutations, and c.6871C>T is a known pathogenic mutation.

Objective:To investigate the effect of overexpression of leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1) on the proliferation, apoptosis and invasion of glioma cells and its molecular mechanism.Methods:U373 cells were cultured in dulbeeeo modified eagle medium (DMEM) medium and divided into control group and LRIG1 group. Control Group was infected with control lentivirus and LRIG1 group was infected with over-expressed lentivirus. The positive cells were screened after 48 hours. Cell proliferation was detected by cell counting kit-8 (CCK-8) and 5-Ethynyl-2’-deoxyuridine (EdU) staining, cell apoptosis was detected by flow cytometry staining, and cell invasion was detected by Transwell staining. The expression levels of the proteins associated with apoptosis and invasion was analyzed by Western blotting.Results:Compared with control group (1.24±0.21), the expression level of LRIG1 protein in LRIG1 group (2.81±0.30) significantly increased ( t=3.015, P<0.05). Compared with the control group (1.74±0.25), the light absorption value of LRIG1 group (1.12 ± 0.18) significantly decreased ( t=3.641, P<0.05). Compared with the control group [(78.65±10.58)%], the EdU positive rate [(34.02 ± 8.01)%] in LRIG1 group significantly reduced ( t=4.387, P<0.05). Compared with the control group [(5.02±1.81)%], the apoptosis rate of LRIG1 group [(25.49 ± 6.89)%] significantly increased ( t=6.914, P<0.05). Compared with the control group (88.14±9.28), the number of invasive cells (39.48±5.81) in LRIG1 group significantly decreased ( t=5.498, P<0.05). Compared with control group (0.58±0.10), the expression level of cysteinyl aspartate-specific protease (Caspase)-3 protein in LRIG1 group (1.16±0.13) significantly increased ( t=3.001, P<0.05). Compared with control group (1.18±0.18), the expression level of matrix metalloproteinase (MMP)-9 in LRIG1 group (0.44±0.11) significantly decreased ( t=3.482, P<0.05). Conclusion:Over-expression of LRIG1 can significantly inhibit the proliferation and invasion of Glioma cells and promote tumor cell apoptosis.

Objective:To investigate the effects of miR-4295 on proliferation, invasion and epithelial mesenchymal transition of glioma cells by targeting leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1).Methods:120 cases gliomas and adjacent tissues from June 2018 to April 2020 were selected as the research objects. The expression level of miR-4295 in gliomas and adjacent tissues was analyzed by fluorescence quantitative polymerase chain reaction (PCR). MiR-4295 silencing cell line (experimental group) and control cell line (control group) were established by lentivirus in U251 glioma cell line. The proliferation ability of the two groups was analyzed by cell counting kit-8 (CCK-8). The invasion ability was analyzed by Transwell. The expression of epithelial mesenchymal markers in the control group and the experimental group was analyzed by Western blotting. The miR-4295 gene was analyzed by bioinformatics and double luciferase reporter gene, and the expression level of cell target protein in control group and experimental group was analyzed by Western blotting. T test was used to compare the data between groups, and the difference was statistically significant ( P<0.05). Results:The expression of miR-4295 in gliomas (1.29±0.20) was significantly higher than that in adjacent tissues (2.81±0.19, t=2.809, P<0.05). Compared with the control group (1.07±0.15), the expression level of miR-4295 in the experimental group (0.38±0.11) significantly reduced ( t=2.441, P<0.05). Compared with the control group (1.61±0.25), the 48 h absorbance value (1.22±0.18) of the experimental group significantly reduced ( t=2.091, P<0.05). Compared with the control group [ (89.27±9.10) cells], the number of invasive cells in the experimental group [ (32.49±5.94) cells] significantly decreased ( t=4.109, P<0.05). The expression levels of N-cadherin and Vimentin in the experimental group (0.30±0.11, 0.37±0.12) were significantly lower than those in the control group (1.13±0.13, 1.20±0.19, t=3.091, 2.861, P<0.05). Bioinformatics and double luciferase reporter gene showed that LRIG1 was the target gene of miR-4295. The relative expression level of LRIG1 in the adjacent tissues (1.05±0.22) was significantly lower than of tumor tissues (0.23±0.11, t=3.021, P<0.05). Compared with the control group (0.35±0.13), the relative expression level of LRIG1 in the experimental group significantly increased (0.89±0.17, t=2.198, P<0.05). Conclusion:MiR-4295 regulates the proliferation, invasion and epithelial mesenchymal transition of glioma cells by targeting LRIG1.

Objective The purpose of this study was to evaluate the relationship between neuron specific enolase (NSE) and hand-foot-mouth disease (HFMD) combined with encephalitis in order to provide advanced evidence for clinical prevention and treatment.Methods CNKI,Wanfang Database,VIP,PubMed,EMBase,Cochrane Library and other databases were searched for relevant studies published up to July 2016.The Review Manager 5.3 software and Stata 12.0 software were used for meta-analysis.Results Seven studies were eligible for the current meta-analysis,including 448 encephalitis cases and 466 pure HFMD cases.The meta-analysis showed that the SMD (95％ CI) of NSE level (μg/l) for HFMD combined with encephalitis cases VS HFMD only cases were:samples comes from serum (SMD =1.97,95％ CI:1.75-2.19,P＜0.001),cerebrospinal fluid (SMD =2.62,95％ CI:2.36-2.89,P＜0.001).Conclusion Our study indicated that NSE level elevated significantly for children infected with HFMD combined with encephalitis.There was strong association between them.We can determine the changes of condition for patients with HFMD by detecting serum NSE.

壳聚糖（chitosan）是从甲壳类生物的贝壳中提取出来的一种可生物降解的多糖，具有良好的生物相容性，对包裹的分子有很好的结合和保护作用，对生物体无毒、相容性好，且很容易制成不同途径给药的基因治疗载体［1］。在表面覆盖吐温‐80的纳米微粒，能很好地透过血‐脑屏障，对颅内肿瘤治疗具有很好前景。值得注意的是，纳米粒能够用配体进行表面修饰，如抗体片段，可进行靶向治疗。EphA2属于受体酪氨酸激酶家族，EphrinA1是其特异性的配体。在成人各种正常上皮细胞中，EphA2几乎不表达，在能够形成血管的胶质瘤中EphA2高表达明显［2］。以树突状细胞为基础的免疫治疗是一种非常有前景的新疗法，具体做法是使DCs负载肿瘤相关抗原，有效激发机体CTLs的抗肿瘤免疫反应，达到靶向性杀伤肿瘤细胞而不伤害正常细胞的目的。本研究内容主要为高性能壳聚糖包裹EphrinA1结合绿脓杆菌毒素PE38杀伤胶质细胞瘤血管生长造成肿瘤缺血、缺氧性坏死，同时联合免疫调节剂GM‐CSF在体内完成DCs抗原负载并产生DCs疫苗。

目的研究人脐带间充质干细胞转染外源基因后的细胞生物学特性。方法培养人脐带间充质干细胞并免疫荧光鉴定。用脂质体法转染pEGFP-C1-SDF-1转入3代的HUCMSCs细胞,应用抗生素G418筛选2周后挑取转基因抗性细胞集落扩大培养。激光共聚焦显微镜下观察转染的细胞。结果培养的细胞经免疫荧光检测为HUCMSCs,pEGFP-C1-SDF-1表达载体转染到MSCs,24h后细胞免疫荧光检测可见SDF-1融合蛋白表达。结论研究结果为建立和优化HUCM-SCs细胞转染外源基因平台奠定了工作基础。