Objective:To explore the expression of nectin-4 and vanin-1 in esophageal squamous cell carcinoma(ESCC)and its influence on the malignant biological behaviors of ESCC cells,as well as the underlying mechanisms.Methods:Transcriptome sequencing combined with GO and KEGG enrichment analysis was used to identify the downstream target gene(vanin-1)regulated by nectin-4.The mRNA expression of vanin-1 in ESCC tissues was studied using the Timer2.0 database,and the mRNA and protein expression of vanin-1 in normal esophageal epithelial HET-1 and ESCC cells was detected by qPCR and Western blot,identifying ESCC KYSE-410 and KYSE-510 cells with the most significant differential expression.The expression of vanin-1 in KYSE-410 and KYSE-510 cells was knocked down using siRNA.The effects of vanin-1 knockdown on cell proliferation,migration,and invasion were measured using CCK-8 assay,wound healing assay,and Transwell chamber assay.Furthermore,KEGG and GO enrichment analyses were conducted for vanin-1-related signaling pathways.Immunohistochemistry was performed to compare the expression of vanin-1 between ESCC tissues and adjacent non-tumor tissues.Results:Timer2.0 database analysis and qPCR results showed that vanin-1 was highly expressed in both ESCC tissues and cell lines(both P<0.01).WB assay also confirmed high expression of vanin-1 protein in ESCC cells(P<0.01).siRNA successfully knocked down vanin-1 expression in KYSE-410 and KYSE-510 cells.Knockdown of vanin-1 significantly inhibited the proliferation,migration,and invasion capabilities of KYSE-410 and KYSE-510 cells(P<0.05 or P<0.01 or P<0.001 or P<0.000 1).KEGG and GO enrichment analysis suggested that vanin-1 might function through pathways related to pantothenic acid and coenzyme A synthesis metabolism.Immunohistochemistry results indicated that vanin-1 was highly expressed in ESCC tissues(P<0.000 1).Conclusion:Vanin-1 is highly expressed in ESCC tissues and promotes the proliferation,migration,and invasion of KYSE-410 and KYSE-510 cells through the nectin-4/vanin-1 axis.Targeting vanin-1 might offer a new therapeutic strategy for ESCC.

Objective: To investigate the correlation between clinical phenotype, electroencephalogram (EEG) characteristics and genotype in children with Angelman syndrome(AS). Methods: A total of 103 children with AS at Department of Neurology, Children′s Hospital of Fudan University from June 2017 to June 2018, were included in this study.The information of clinical characteristics, EEG manifestations, genotypes as well as the epileptic outcome were collected retrospectively.The correlations between clinical phenotype, genotype, and epileptic outcome were evaluated. Results: (1) Of the 103 cases, 48 were male (46.6%) and 55 were female (53.4%). (2) Genotypes on AS critical region were maternal chromosome 15q11.2-q13 [86.4%(89/103 cases)], paternal uniparental disomy [3.9%(4/103 cases)], imprinting defects [1.9%(2/103 cases)], and mutations in the maternal copy of UBE3A [7.8%(8/103 cases)]. (3) Apparent happy demeanor or smile and general developmental delay were observed in all AS children.Dyskinesia accounted for 98.1% (101/103 cases), followed by oral movement or suck disorders [97.1%(100/103 cases)] and abnormal posture [67.0%(69/103 cases)]. The proportion of acquired small head circumfe-rence or microcephaly, flat occiput or occipital groove and wide-spaced teeth were 61.2%(63/103 cases), 85.4%(88/103 cases) and 44.7%(46/103 cases), respectively.(4) Behavioral problems like fascination with water, sleep problems and feeding difficulties were found in 86.4%(89/103 cases), 89.3%(92/103 cases) and 85.5%(88/103 cases) of the children, respectively.Sleep disorders [94.4%(84/89 cases) vs.57.1%(8/14 cases)] and feeding difficulties [93.3%(83/89 cases) vs.35.7%(5/14 cases)] were more frequently seen in children with maternal absence group, compared those with no absence, and the differences were statistically significant (all P<0.05). (5) Epilepsy was present in 77.7% (80/103 cases) of children with onset age varying from 8 to 72 months and 80.8% (59/73 cases) were developing seizures prior to 3 years old.Children with maternal absence showed more multiple seizure types than those with no absence[41.7%(32/68 cases) vs.0(0 case)], and the difference was statistically significant(P<0.05). Children with well-controlled epilepsy had more atonic seizure, compared with those with poorly controlled seizure [48.3%(14/29 cases) vs.18.5%(4/27 cases)], and the difference was statistically significant(P<0.05). Conclusions Sleep disorders, feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence.Atonic seizure is easier to be controlled over other types of seizures.

Objective To investigate the association of the rs 2118181 polymorphism of FBN-1 gene ( encoding Fibrillin-1 ) and the risk of acute aortic syndrome ( AAS ) in Chinese Han population. Methods Genomic DNA was extracted from the blood of 206 patients suffering AAS and 209 individual-matched controls.The dideoxy chain termination method was used to determine the genotypes of rs 2118181 single nucleotide polymorphisms .Results The TT frequency of rs 2118181 genotype was significantly higher in the patients with AAS , especially with Intramural Haematoma ( IMH ) than in the controls ( 62.1%, 70.4% vs.52.5%, P<0.05).Carriers of CT or CC genotype had a less risk for AAS , especially for IMH, compared with carriers of TT genotype.The odds ratio were 0.66 (95%CI:0.45-0.98, P=0.040) and 0.46 (95%CI:0.24-0.87, P=0.016) respectively.After adjusting for age, sex, body mass index, hypertension , body mass index , smoking , diabetes mellitus , the odds ratio for AAS was 0.66 ( 95% CI:0.44-0.99 , P=0.048 ) .However , there was no significant difference on the frequencies of rs 2118181 genotype between the two subgroups of classical aortic dissection and intramural haematoma . Conclusions The rs2118181 polymorphism of FBN-1 gene is correlated to the sporadic AAS , especially to IMH, in Chinese Han population .The carriers of TT genotype are vulnerable to AAS , especially to IMH , compared with the non-carriers.

Objective: To access the risk for smoking on morbidity of acute ST-segment elevation myocardial infarction (STEMI) at different gender and age population. Methods: A case-control study was conducted in 2026 STEMI patients and 2026 control subjects with matched gender and age (±2 years) in our hospital from 2010-01-14 to 2016-02-27. The relationship between smoking and STEMI morbidity was analyzed. Results: Smoking was an important risk factor for STEMI morbidity in male gender and it was negatively related to age, as STEMI in young male smokers (≤45 years): adjusted OR=7.000, 95% CI 4.235-11.570; in middle age male smokers (46-59 years):adjusted OR=5.296, 95% CI 3.904-7.185 and in elder male smokers (≥60 years): adjusted OR=4.686, 95% CI 2.860-4.751. Conclusion: Smoking is a major risk factor for STEMI morbidity, while it is different from age and gender; the young male smokers have the highest risk to suffer from STEMI.

ObjectiveTo investigate the expression and activity of histone deacetylase (HDAC) in prostate cancer.Methodshe pathological samples of 37 cases of PCa were collected. The mean age of the patients was 73 (53 - 88 ) years, the preoperative t-PSA was 81.69 ( 3.13 - 2000 ) ng/ml, Gleason score: 13 cases were ≤7, 24 cases were ＞7. Twenty-seven cases of BPH were set as controls. The mean age of the BPH patients was 69 (52 - 84) years, the preoperative t-PSA was 10.93 ( 1.11 - 55.07 ) ng/ml.Western blotting and colorimetric Assay kits were used to determine the HDAC expression and activity. The difference of HDAC activity in benign prostatic hyperplasia and prostate cancer was statistically analyzed.The correlation of the HDAC expression level and values of PSA and Gleason score was also assessed.ResultsHDACs were over-expressed in most cases of prostate cancer, the expression rates were HDAC1 :57％, HDAC2: 68％, HDAC3: 84％ and HDAC4: 73％, respectively. The HDAC activity (P ＜0.05)was significantly different between the prostate cancer and benign prostatic hyperplasia groups. The expression level of HDAC did not correlate with the values of PSA and Gleason score.ConclusionsHDAC was highly expressed and strongly active in prostate cancer. The results suggest that HDAC might be a potential target for the management of prostate cancer patients.