The aims of this study were to investigate the expression of prolyl 4-hydroxylase subunit alpha-1 (P4HA1) and its relationship with clinicopathological features in lung cancer (LC), breast cancer (BC), and head and neck cancer (HNSC) and to discuss the possibility of P4HA1 being a potential diagnostic and prognostic biomarker. Data on the RNA expression profile, protein expression profile, and relevant clinical information were downloaded from The Cancer Genome Atlas (TCGA) and The Human Protein Atlas databases. The relationship between P4HA1 mRNA expression and clinicopathological features was evaluated. Survival analysis was performed to assess overall survival (OS) and relapse-free survival (RFS). The multivariate Cox regression model was employed to analyze the independent prognostic factors. Finally, protein-protein interaction networks were constructed and enrichment analysis was performed to identify the latent P4HA1-related terms and pathways. This study showed that P4HA1 was upregulated in three types of tumor tissues (p < 0.05) and high P4HA1 was significantly relevant to the clinical features of patients with LC, BC, or HNSC. Survival analysis indicated that patients with high P4HA1 had unfavorable clinical outcomes. Multivariate analysis showed that the high P4HA1 expression was an independent prognostic factor for poor OS and RFS in LC and HNSC patients. Bioinformatic analysis was performed to predict P4HA1-interacted proteins and further evaluate possible signal pathways. In the current study, the rising P4HA1 was identified in LC, BC, and HNSC and significantly correlated with the clinicopathological features of patients. High P4HA1, suggesting poor clinical outcomes, could be used as an early diagnostic and prognostic biomarker for patients with aforementioned tumors.

目的 观察针灸联合艾灸治疗颞下颌关节紊乱综合征(TDM)的临床疗效.方法 随机收集因颞下颌关节紊乱综合征就诊的70例患者,随机分为观察组及对照组各35例.观察组采用电灸及艾灸,对照组采用止痛药及局部热敷;比较两组治疗前后颞下颌关节疼痛度及张口度以评估临床治疗疗效.结果 治疗后疼痛数字评分法(NRS)得分:观察组(2.12±1.01)分,对照组(3.43±1.81)分;治疗后张口度:观察组(37.61±3.06) mm,对照组(33.42±3.77)mm.观察组治疗后NRS得分和张口度的改善均优于对照组,组间差异均有统计学意义(分别为P=0.02,P=0.002).结论 电灸联合艾灸治疗颞下颌关节紊乱综合征疗效显著,能改善患者的疼痛及张口受限症状.

Marfan syndrome is a heritable autosomal-dominant connective tissue disorder and it was typically caused by mutations in FBN1. However, the synonymous mutation was seldom recorded to be related to Marfan syndrome. Hereon, Multiplex ligation-dependent probe amplification failed to detect a copy number variant involving FBN1 but a synonymous mutation c.4773A > G (p.Gly1591Gly) was identified by NGS in exon 39. RNA was extracted from patient's aortic tissue and reverse polymerase chain reaction demonstrated the presence of a shortened mRNA transcript. Results of minigene models indicated that c.4773A > G was bona fide responsibility for the aberrant splicing pattern, and artificial mutations of c.4773A > C and c.4773A > T also gave rise to fragments with exon 39 entire skipped. Together, the novel synonymous mutations in c.4773 position (A > G, C, T), middle of exon 39 of FBN1 gene, was found to be associated with Marfan syndrome by altering the splicing pattern of pre-mRNA.