Background and purpose: Alternative splicing is an important regulation mechanism of gene expression. Aberrant alternative splicing is associated with dysregulation of the cell cycle, activation of oncogenes and inactivation of the tumor suppressor genes. Thus, it is closely correlated with the pathogenesis and progression of various tumors. DNA methylation is an important part of epigenetic phenomena. Aberrant methylation of the gene promoter can result in gene silencing. Hypermethylation of tumor suppressor genes and DNA repair genes correlates with the onset of many different cancers. Additionally, DNA methylation acts as a pivotal factor for alternative splicing. Aberrant methylation disrupts the stabilization of the alternative splicing. This study investigated the promoter methylation and expression of RNA binding protein, fox-1 homolog 1 (RBFOX1) gene in esophageal squamous cell carcinoma (ESCC), and to elucidate its role in ESCC. Methods: MassARRAY approach and RT-PCR were used respectively to examine the methylation level of RBFOX1 gene and its expression at mRNA level in tumors and corresponding adjacent normal tissues. The correlation between methylation level and clinicopathological features was analyzed. Results:RBFOX1 methylation level and mRNA expression in tumor tissues were signiifcantly lower than those in corresponding adjacent normal tissues (41.8% vs 68.3%, P<0.01). No significant correlation was observed between methylation level and clinicopathological features. The cut-off (33.6%) was calculated as the mean of the normal samples to which we applied 2.5 SD. According to the cut-off value, the object of the study was divided into two groups. The methylation level lower than the cut-off was deifned as group 1;methylation level higher than the cut-off was deifned as group 2. The 5-year overall survival rates of the two groups were 57.0%and 35.7%, respectively (P=0.06);5-year progression-free survival rates were 48.7%and 28.9%, respectively (P=0.03). However, the multivariate analysis results indicated that TNM stage was the independent factor of prognosis.Conclusion: The methylation level and mRNA expression of RBFOX1 in tumor specimens are signiifcantly lower than those in corresponding adjacent normal tissues. The methylation level of the RBFOX1 promoter is not an independent factor of prognosis.

Purpose To evaluate the function of swallowing by examining the relative motion of the hyoid bone and larynx(HL)via ultrasonography,and to explore the value of HL motion ratio in the evaluation of stroke with pharyngeal dysphagia.Materials and Methods A total of 43 stroke patients with dysphagia(dysphagia group)and 43 healthy adults(healthy control group)from June 2021 to April 2022 in the Third Affiliated Hospital of Henan University of Traditional Chinese Medicine and the First Affiliated Hospital of Henan University of Traditional Chinese Medicine were enrolled.The displacement and motion time of HL were measured by ultrasonography when the participants swallowed 5 ml water.The median flow tracking algorithm was implemented in Python language to measure the displacement of the hyoid bone,the movement time of the hyoid bone,the displacement of the larynx and the movement time of larynx,and then HL movement ratio was calculated,respectively.The differences in ultrasonography measurements between the two groups were compared,and the influencing factors of stroke with dysphagia were screened out via Logistic regression analysis.Then the receiver operating characteristic curve was drawn,the area under curve and the cut-off value,sensitivity and specificity were calculated subsequently.Results The larynx motion time(static phase),the larynx displacement(elevation phase)and the HL motion ratio were significantly related to swallowing in healthy participants,with significant differences between the two groups(t=4.97,6.38,6.17,P<0.05).The results of Logistic regression analysis showed that the HL motion ratio was the influencing factor of stroke with dysphagia(OR>1,P<0.05).The optimal cut-off value of the HL motion ratio for the diagnosis of dysphagia was 0.58,leading to a sensitivity of 86.0%,a specificity of 93.0%and the area under curve of 0.967,respectively.Conclusion Ultrasonography can quantitatively evaluate the motion of the HL during swallowing,and the HL motion ratio can be considered as a parameter for the evaluation of stroke with dysphagia,providing new insights for clinical diagnosis of dysphagia.

Humans ; Autistic Disorder ; China/epidemiology* ; Cohort Studies ; Autism Spectrum Disorder/genetics* ; Asian People