Comparison of clinical characteristics of patients with different types of laryngopharyngeal reflux disease / 中华耳鼻咽喉头颈外科杂志

Objective: To compare the clinical characteristics of patients with different type of laryngopharyngeal reflux disease in order to study the effect of non-acid reflux on laryngopharyngeal reflux disease. Methods: From January 2015 to January 2020, 349 inpatients or outpatients suspected of having laryngopharyngeal reflux underwent 24-hour multichannel intraluminal impedance pH monitoring (MII-pH). There were 303 male and 46 female patients, with an average age of 56.03 years old ranged from 25 to 81 years old. The reflux symptom index (RSI)and reflux findings score(RFS)were recorded before MII-pH monitoring. The number of acid reflux events and non-acid reflux events in hypopharynx were counted. It was defined mainly acid reflux type when the ratio of acid reflux to all reflux events was greater than 50%, mainly non-acid reflux type when the ratio of non-acid reflux to all reflux events was greater than 50%. The clinical characteristics of patients with different type of reflux were compared. SPSS 19.0 software was used for statistical analysis, and multiple independent samples were compared between groups. The quantitative data were analyzed by multivariate analysis of variance, and the counting data were analyzed by chi-square test, the difference was statistically significant when P<0.05. Results: The 24-hour MII-pH showed that there were 90 patients with no reflux events, 51 patients with mainly acid reflux type, 198 patients with mainly non-acid reflux type and 10 patients with equal acid reflux events and non-acid reflux events. Statistics showed that the RSI(10.72±4.40), RFS(7.70±2.73) and the average number of reflux events(0) in the group without reflux events were significantly lower than those in patients with mainly acid reflux type (RSI 13.16±6.62,RFS 10.08±3.03,average number of reflux events 5.33±3.15,P<0.05) and mainly non-acid reflux type(RSI 13.25±5.54,RFS 8.81±2.54,average number of reflux events 7.93±5.26, P<0.05). There was no significant difference in RSI between the mainly non-acid reflux type group and the mainly acid reflux type group, but the RFS of the mainly non-acid reflux type group was significantly lower than that of the mainly acid reflux type group. The average number of reflux events in the mainly non-acid reflux group was significantly higher than that in the mainly acid reflux type group (P<0.05). Conclusion: The results show that non-acid reflux plays a certain role in laryngopharyngeal reflux disease, but the effect of acid reflux is greater.

Second generation sequencing detection breast cancer susceptibility gene variants for risk prediction and clinical treatment / 中国肿瘤临床

Objective:To investigate the function of breast cancer susceptibility gene variants in predicting breast cancer risk and guid-ing clinical treatment through DNA sequencing. Methods:This study involved 146 patients, 71 high-risk cases, and 55 healthy people, totaling 272 cases. The subjects were treated in Tianjin Medical University Cancer Institute and Hospital from November 2013 to July 2015. Genomic DNA was sequenced by a second generation sequencing platform. All exon areas of six common breast cancer suscepti-bility genes (BRCA1, BRCA2, PTEN, STK11, TP53, and RAP1) were sequenced through amplicon sequencing method. Meaningful vari-ants including single nucleotide variants (SNVs), insertion-deletions (InDels) and nonsense mutations were selected and statistical methods, such as t test andχ2 test, were used to analyze the statistical differences in incidence rates among three groups. Results:A total of 177 meaningful variants were confirmed, including 50 SNVs, 8 nonsense mutations, and 9 InDels. Among the variants, 31 were recorded in the Exome Aggregation Consortium (ExAC), 40 were noted in ClinVar database, and 21 were not encoded in the present da-tabase, which were defined as new variants in this study. Conversely, 57 variants (85.1%) were found in breast cancer patients and high-risk cases, and the incidence of axillary lymph node metastasis (P=0.010) and pathological stages (P=0.002) in mutation positive patients were both higher than mutation negative patients. Moreover, the percentage of family history of cancer (P=0.005) and triple negative breast cancer (P=0.009) were both higher in patients carrying pathogenic mutations than in nonpathogenic patients. Conclu-sion:Breast cancer susceptibility gene variants may not only be a tool used to predict the risk of getting breast cancer but also a mean-ingful guideline for the clinical treatment and prognosis evaluation.