1.Clinical analysis of routine testing of vaginal discharge samples in a hospital
Dinghua LIU ; Min BAI ; Jianjiang XUE ; Huan LIU ; Xuemei YU ; Wenming LI
Chongqing Medicine 2015;(19):2654-2656
Objective To analyze the routine testing of vaginal discharge samples and investigate the clinical characteristics of the vaginal micro ecology of a hospital women .Methods The data of 2 533 clinical cases were included .The vaginal infection in different ages and seasons was analyzed .The clinical usefulness of bacterial vaginosis (BV) rapid diagnostic method was estimated . Results The rate of low cleanliness samples (stage Ⅲ + Ⅳ) was significantly higher than that of StageⅠ + Ⅱsamples .Of the 2 533 cases ,the detection rates of fungus and small gram negative or gram variable rods were significantly higher among specific patho‐gens and pathogenic bacteria ,respectively .The rates of low cleanliness samples were highest at age below 20 and in the season of winter (81 .3% ,73 .0% ) ,those of fungus at age from 21 to 30 and in the season of summer (23 .9% ,23 .0% ) ,and those of small gram negative or gram variable rods at age from 31 to 40 and in the season of winter (25 .1% ,37 .3% ) .In comparison with golden method ,the sensitivity and specificity of BV BLUETM method were 80 .0% and 90 .0% ,which reflected the accuracy was 87 .5% . Conclusion Vaginal infection of a hospital women was more common in young group and in the season of winter .Fungus and small gram negative or gram variable rods were the major pathogens .BV BLUETM method could assist in the BV rapid diagnosis ,with potential false positive/negative results being fully validated .
2.Curative effect of Ruangan pills in treatment of schistosomiasis liver fibrosis
Huajie GE ; Dinghua BAI ; Xiaoling XIA ; Shating XU ; Fujun LUO ; Guanghui REN
Chinese Journal of Schistosomiasis Control 2014;(2):197-199,202
Objective To explore the efficacy,mechanism and safety of silibinin combined with Ruangan pills(a Chinese herbal preparation)in the treatment of schistosomiasis liver fibrosis. Methods A total of 200 patients with schistosomiasis liver fibrosis were randomly divided into a control group and a treatment group,and 100 patients in each group were respectively admin-istered with oral silibinin alone and oral silibinin combined with Ruangan pills,respectively. The curative effects in the two groups were evaluated in 3 months,6 months,9 months and 12 months respectively. Results The common five clinical symptoms of schistosomiasis liver fibrosis patients significantly relieved in the treatment group 12 months after the therapy,and the total effi-ciency reached more than 75%,which were significantly higher than that in the control group. In the treatment group and the con-trol group,there was no improvement in the liver B ultrasonic classification 3 months and 6 months after the therapy(P>0.05);however,in 9 months and 12 months,the liver B ultrasonic classification in the treatment group was better than that in the control group(P<0.05,P<0.01,respectively). For the four serum indexes of liver fibrosis,there was no significant differences between the two groups in 3 months,however,in 6 months,9 months,and 12 months,there was a significant improvement in the treat-ment group compared with the control group. There were no obviously adverse effects in two groups. Conclusion Silibinin com-bined with Ruangan pills has a better curative effect in the treatment of schistosomiasis liver fibrosis.
3.Diagnosis and treatment of imported African schistosomiasis
Weicheng DENG ; Dinghua BAI ; Zhijian LI ; Yong HE ; Guojian DING ; Yonghui ZHU ; Jiaxin LIU ; Qunshan JING ; Hongbo WANG ; Guanghui REN ; Yi DENG
Chinese Journal of Schistosomiasis Control 2016;28(4):472-474
This paper summarizes the clinical diagnosis and treatment of imported African schistosomiasis,in order to make the therapeutic standards. Imported African schistosomiasis includes mainly schistosomiasis haematobia and schistosomiasis mansoni in China. In order to set up the operational standards,enhance diagnostic and cure rates,and reduce the complica?tions,we review the related literature combined with our experience over years,and summarize,in this paper,the pathogenic mechanism,and key points of clinical diagnosis and treatment of schistosomiasis haematobia and schistosomiasis mansoni,so as to provide the reference for clinical doctors.
4.Management strategy and technology of medical assistance to advanced schistosomiasis patients in Hunan Province
Weicheng DENG ; Dinghua BAI ; Zhijian LI ; Yong HE ; Yi DENG ; Yonghui ZHU ; Jiaxin LIU ; Yueyun ZHANG ; Guojian DING ; Guanghui REN ; Zhihong LUO ; Xingbiao LI
Chinese Journal of Schistosomiasis Control 2016;28(5):594-595,600
The medical assistance to advanced schistosomiasis patients established by the Chinese government is a major public facility for patients with advanced schistosomiasis. Since the medical assistance to advance schistosomiasis patients in Hu?nan Province started ten years ago,a set of mature and operable programs with whole program management and related technolo?gies has been developed. The author investigated the data on medical assistance to advanced schistosomiasis patients in Hunan Province during the last 10 years(from 2006 to 2015)retrospectively,and found that the program had high therapeutic effect and high satisfaction degree of both patients and the society. In order to improve the management of the medical assistance to ad?vanced schistosomiasis patients and share our experiences of the whole program management and related technologies with the colleagues of other provinces,this paper mainly illustrates the experiences of the program,as well as the existing problems and related strategies.
5.A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application
Anhai CHEN ; Jie LING ; Xin PENG ; Xianlin LIU ; Shuang MAO ; Yongjia CHEN ; Mengyao QIN ; Shuai ZHANG ; Yijiang BAI ; Jian SONG ; Zhili FENG ; Lu MA ; Dinghua HE ; Lingyun MEI ; Chufeng HE ; Yong FENG
Clinical and Experimental Otorhinolaryngology 2023;16(4):342-358
Objectives:
. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing.
Methods:
. We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement.
Results:
. A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband.
Conclusion
. We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.