Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Objective:To investigate the risk factors for bleeding at femoral artery puncture site after neurointervention and to compare the effectiveness of different hemostatic methods.Methods:Patients underwent whole brain angiography and cerebrovascular interventional therapy in the Department of Neurology, the Fourth Affiliated Hospital of Nanjing Medical University from November 2017 to May 2019 were collected retrospectively. According to the situation of femoral artery puncture site after sheath removal, the patients were divided into bleeding group and non-bleeding group. The baseline data, laboratory tests, and intraoperative data were compared between the two groups. Multivariate logistic regression analysis was used to determine the independent risk factors for bleeding at femoral artery puncture site. The hemostasis time of different diameter vascular sheath (5 F, 6 F or 8 F) under different hemostasis schemes (manual compression, vascular stapler, and vascular occluder) were analyzed. Results:A total of 721 patients performed neurointervention were included, including 264 interventional therapy and 457 whole brain angiography. Forty-six patients (6.4%) had bleeding at the puncture site after procedure, including 25 patients (3.5%) with oozing of blood, 18 (2.5%) with hematoma, and 3 (0.4%) with pseudoaneurysm. Multivariate logistic regression analysis showed that intraoperative systolic blood pressure (odds ratio [ OR] 1.025, 95% confidence interval [ CI] 1.004-1.047; P=0.021), number of punctures ( OR 1.075, 95% CI 1.053-1.097; P<0.001), heparin dose ( OR 2.142, 95% CI 1.638-3.471; P<0.001), operation time ( OR 3.727, 95% CI 2.025-6.860; P<0.001) and manual compression ( OR 3.449, 95% CI 1.230-9.669; P=0.019) were the independent risk factors for bleeding at the puncture site after operation. No matter which hemostasis scheme was used, the hemostasis time would be prolonged with the increase of the diameter of the vascular sheath, but there was a significant statistical difference in hemostasis time of different vascular sheath diameter groups only when using manual compression ( P<0.05). In addition, no matter what the diameter of vascular sheath was, the hemostasis time of using vascular stapler and vascular occluder was significantly shorter than that of manual compression, and there was statistical significance between the groups ( P<0.05). Conclusion:Reducing the number of punctures, shortening the operation time, and using different hemostatic methods for different diameter vascular sheaths can reduce the incidence of bleeding at the femoral artery puncture site.

Objective To investigate the effect of highly expressed β-catenin on the proliferative activity of and expressions of two apoptosis-related genes Bcl-2 and Bax by human skin fibroblasts induced by hydrogen peroxide (H2O2).Methods Normal human skin fibroblasts (HSFs) from child foreskin were divided into three groups:empty vector group transfected with the empty vector pcDNA3.1,H2O2 group transfected with the empty vector pcDNA3.1 followed by treatment with H2O2 (150 μ mol/L) for 2 hours,β-catenin group transfected with pcDNA3.1-β-catenin followed by treatment with H2O2 (150 μ mol/L) for 2 hours.Subsequently,methyl thiazolyl tetrazolium (MTT) assay was conducted to estimate proliferative activity of fibroblasts,flow cytometry to detect cell apoptosis,and reverse transcription (RT)-PCR and Western blot were performed to measure the mRNA and protein expressions of Bcl-2 and Bax respectively.The relative expression levels of genes were expressed as the ratios between the targets and GAPDH.Results Significant differences were found between the empty vector group,H2O2 group and β-catenin group in cellular proliferative activity (expressed as absorbance value at 570 nm:0.792 ± 0.012 vs.0.462 ± 0.012 vs.0.521 ± 0.015,P＜ 0.01) and apoptosis rate (3.407％ ± 0.217％ vs.24.555％ ± 1.793％ vs.15.360％ ± 0.755％,P＜ 0.01).Both mRNA and protein expression levels of Bcl-2 were significantly lower in the H2O2 group (0.333 ± 0.003 and 0.336 ± 0.004 respectively) than in the empty vector group (0.507 ± 0.013 and 0.514 ± 0.021,respectively,both P ＜ 0.01) and β-catenin group (0.404 ± 0.006 and 0.411 ± 0.005,respectively,both P ＜ 0.01).Increased expression levels of Bax mRNA and protein were observed in the H2O2 group compared with the empty vector group and β-catenin group (mRNA:0.451 ± 0.002 vs.0.303 ± 0.005 and 0.339 ± 0.012,protein:0.460 ± 0.008 vs.0.320 ± 0.013 and 0.346 ± 0.013,all P＜ 0.01).Conclusion High expression of β-catenin can raise proliferative activity of aging HSFs.

Objective To observe the effect of high expression of β-catenin on senescent phenotypes in normal human skin fibroblasts (NHSFs) induced by hydrogen peroxide (H2O2).Methods Cultured NHSFs were classified into three groups: β-catenin + H2O2 group transfected with a recombinant plasmid pcDNA3.1-β-catenin and treated with H2O2 of 150 μ mol/L for two hours,H2O2 group transfected with the empty vector pcDNA3.1 and treated by H2O2 of 150 μmol/L for two hours,and vector group transfected with the empty vector pcDNA3.1 and receiving no treatment.Reverse transcription (RT)-PCR and Western blot were performed to quantify the mRNA and protein expressions of β-catenin in these cells,microscopy to observe the morphological changes of cells.The activity of senescence-associated β-galactosidase (SA-β-Gal) and superoxide dismutase (SOD) as well as the level of reactive oxygen species (ROS) were detected by using commercial kits.Data were processed with the software SPSS 13.0,and analysis of variance (ANOVA) was conducted for multiple group comparisons.Results The expression of β-catenin was significantly upregulated in NHSFs transfected with the recombinant plasmid pcDNA3.1-β-catenin.Both the mRNA and protein expression levels of β-catenin described as β-catenin/ glyceraldehyde-3-phosphate dehydrogenase (GAPDH) ratio were significantly lower in the H2O2 group compared with the vector group (0.2900 ± 0.0195 vs.0.5963 ± 0.0400,0.3130 ± 0.0171 vs.0.6190 ± 0.0090,both P ＜0.05),while the protein expression level of β-catenin was statistically higher in the β-catenin + H2O2 group than in the H2O2 group (0.7953 ± 0.0074 vs.0.3130 ± 0.0171,P ＜0.05).Significant differences were observed between the vector group,H2O2 group and β-catenin+ H2O2 group in the percentage of SA-β-gal-positive cells ((2.9667 ± 0.2517)％ vs.(37.70 ± 0.9539)％ vs.(29.330 ± 0.6359)％,P ＜0.05),ROS activity ((50.9963 ±9.2688)％ vs.(109.9190 ± 11.5215)％ vs.(75.1063 ± 3.0138)％,P ＜0.05),and SOD levels ((88.0856 ±3.9181) vs.(35.5585 ± 3.4438) vs.(61.7029 ± 3.1716) U/mg,P ＜0.05).Conclusion The overexpression of β-catenin can downr_egulate the activity of SA-β-Gal and ROS level,but enhance the activity of SOD.

Objective To observe the changes of β-catenin expression in human skin fibroblasts (HSFs) after induced by oxidative stress, and to explore its possible roles in oxidative stress-induced premature senescence (SIPS) of HSFs. Methods Fibroblasts were isolated from the foreskin of a child and subjected to a primary culture. The fibroblasts of second to fourth passage were treated with various concentrations of H2O2 for 2 hours to establish an optimized model of stress-induced premature senescence, β-galactosidase assay kit was used to detect the activity of β-galactosidase in H2O2rinduced HSFs, RT-PCR and Western blot to measure the mRNA and protein expressions of β-catenin in control and senescent HSFs. Results Premature senescence of HSFs could be induced by the treatment with H2O2 of 150 μmol/L for 2 hours. The proportion of β-galactosidase-positive cells was (2.97 ± 0.25)% in control HSFs and (37.67 ± 1.53)% in senescent HSFs (P< 0.01). A significant increase was observed in the β-catenin/GAPDH protein ratio and β-catenin/GAPDH mRNA ratio in control HSFs compared with the senescent HSFs (0.62 ± 0.03 vs. 0.31 ± 0.01, t = 14.97, P < 0.01; 0.59 ± 0.04 vs. 0.29 ± 0.30, t = 10.06, P < 0.01). Conclusions The two-hour treatment with H2O2 of 150 μmol/L could induce the premature senescence of HSFs, and there is a notable decrease in the expression of β-catenin in prematurely senescent HSFs induced by oxidative stress, implying that β-catenin is an important target gene for the regulation of skin aging.

In this case-control study, the relationship between M196R (676 T-->G) variant in exon 6 of tumor necrosis factor receptor type 2 ( TNFR2 ) gene and genetic susceptibility of acne vulgaris in Han Chinese was investigated. A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was adopted to analyze the single nucleotide polymorphisms (SNPs) of TNFR2 M196R gene, and to examine the association between acne vulgaris and the polymorphisms in TNFR2 M196R gene. The relationship between different genotypes and the susceptibility of acne vulgaris was analyzed. The results showed that there was significant difference in the frequency of the genotype M/R+R/R in the TNFR2 M196R genetic polymorphisms between acne vulgaris patients and healthy controls (chi(2)=4.343; P=0.037; OR=1.899; 95% CI: 1.036-3.445); and there was significant difference in the allele (R) frequency between acne vulgaris patients and healthy controls (chi(2)=5.588; P=0.018; OR=1.838; 95% CI: 1.105-3.057). It was concluded that the high frequency of 196R allele in the functional M196R polymorphism of TNFR2 is a risk factor for acne vulgaris in Han Chinese.

In this case-control study,the relationship between M196R(676 T→G)variant in exon6 of tumor necrosis factor receptor type 2(TNFR2)gene and genetic susceptibility of ache vulgaris in Han Chinese was investigated.A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique was adopted to analyze the single nucleotide polymorphisms(SNPs)of TNFR2 M 196R gene,and to examine the association between ache vulgaris and the polymorphisms in TNFR2 M196R gene.The relationship between different genotypcs and the susceptibility of acne vulgaris was analyzed.The results showed that there was significant differencein the frequency of the genotype M/R+R/R in the TNFR2 M196R genetic polymorphisms between acne vulgaris patients and healthy controls(X2=4.343; P=0.037; OR=1.899; 95% CI: 1.036-3.445);and there was significant difference in the allele(R)frequency between acne vulgaris patients and healthy controls(X2=5.588; P=0.018; OR=1.838; 95% CI: 1.105-3.057).It was concluded that the high frequency of 196R allele in the functional M196R polymorphism of TNFR2 is a risk factor for acne vulgaris in Han Chinese.

Objective To investigate the clinical pathological features and imaging findings of primary pulmonary sarcomatoid carcinoma. Methods Fifteen patients with a pathologically verified primary pulmonary sarcomatoid carcinoma were reviewed retrospectively. Fourteen patients had CT examinations and I0 of them had contrast-enhanced CT scan. Nine patients had chest plain films. Results Of 15 patients, 14 were peripheral and 1 was central, diameters ranging from 2.5 cm to 9.5 cm. Five located in the upper, 3 in the middle and 4 in the lower lobe of the right lung. The other 3 located in the upper left lobe. All cases presented with a spheroid solid lung mass on chest plain film and CT examinations. Three had irregular eccentric cavities. Six were well demarcated, 2 were ill defined, 4 were lobulated and 3 were speculated. The central case had obstructive pneumonia and showed ill defined. Ten showed irregular peripheral heterogeneous contrast enhancement. The center part of the tumor showed no enhancement or inhomogeneous enhancement. Seven had thoracic wall or pleural invasion, 4 had hilar or mediastinal lymphopathy and 2 had metastasis. Histopathologically, 8 were pleomorphic carcinoma, 2 were spindle cell carcinoma, 3 were giant cell carcinoma and 3 were pulmonary blastomas. Conclusion The X-ray and CT findings of the primary pulmonary sarcomatoid carcinoma are not specific. The clinicopathologic features were the evidence of diagnosis.

Objective: To observe the morphologic changes of pituitary adrenocorticotrophic hormone (ACTH) cells in Wistar rats at different altitudes, and clarify the mechanism of stress reaction to hypoxia in ACTH cells. Methods: Wistar rats were divided into three groups and moved to different altitudes (1700 m, 3100 m, 4050 m). After 12 days, changes of ACTH cells were observed by using immunohistochemisty, image analysis and electron microscopy. Results:The ratio (R) of immunoreactive cell area to scanned area and mean optical density (A) increased at higher altitude with statistically different R values between groups of 1700 m and 4050 m (P

This paper thoroughly expounds the structure,working principle,and maintenance methods of SDS-20 blood dialysis system.