Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Humanistic caring for patients in the operating room refers to providing the whole process of caring medical services for patients in the operating room. In order to standardize humanistic caring services for patients in the operating room of medical institutions, improve the comprehensive service level of the operating room, and enhance the surgical experience of patients, the Chinese Association for Life Care released the group standard " Humanistic Caring Management Standards for Patients in the Operating Room" in December 2023. This article interpreted the basic requirements for humanistic caring of patients in the operating room, the environment and facilities for humanistic caring, the procedures and measures for humanistic caring, and the quality management framework, aiming to assist administrators and clinical practitioners across various levels of medical institutions in accurately understanding and effectively implementing the standard, and to provide essential textual reference and practical guidance for promoting the application of the standard.

Objective To explore the clinical efficacy of modified anteromedia approach with superior extensor retinaculars and traditional anteromedia combined with posterolateral approach in the treatment of Rüedi-Allg?wer type Ⅲ Pilon fractures.Methods In this study selected 56 patients with Rüedi-Allg?wer type Ⅲ Pilon fractures treated in our hospital from January 2020 to January 2022,all of whom met the inclusion and exclusion criteria,27 in the experimental group and 29 in the control group.Both groups underwent open reduction and internal fixation of Pilon fractures.The experimental group used a modified anteromedial approach to preserve the supraspinatus,while the control group used a traditional anteromedial combined with posterolateral approach to cut off the supraspinatus.The general clinical data,operation time,intraoperative blood loss,postoperative drainage volume,fracture reduction quality,early pain VAS score,complications and ankle function evaluation of the experimental group and the control group were compared in detail,and the early clinical efficacy of the two surgical methods was analyzed and compared.Results There were no significant differences in age,gender,body mass index(BMI),complications,injury mechanism and the time from admission to operation between the experimental group and the control group(P>0.05).Experimental group:operation time(115.92±12.23)min,intraoperative blood loss(129.25±16.15)mL,postoperative drainage volume(82.44±25.57)mL,fracture healing time(17.89±2.39)w;Control group:operation time(172.75±15.09)min,intraoperative blood loss(177.24±14.36)mL,postoperative drainage volume(115.06±21.95)mL,fracture healing time(19.93±3.75)w.The operative time and fracture healing time of the experimental group were less than those of the control group(P<0.05),and the intraoperative blood loss and postoperative drainage volume of the experimental group were less than those of the control group,the difference was statistically significant(P<0.05).The Buewell-Charnley fracture reduction radio-logical evaluation criteria were used to evaluate the fracture reduction,and the rate of good reduction was 96.29%in the experimental group and 93.10%in the control group.There was no statistical significance in the anatomical reduction between the two groups(P>0.05).Visual analog scale(VAS)was used to evaluate postoperative pain,and pain VAS scores of the experimental group were lower than those of the control group at 3 days,1 week and 4 weeks after surgery(P<0.05).Both groups were followed up for at least 12 months after surgery,and the incidence of postoperative complications in the experimental group was lower than that in the control group(P<0.05).The AOFAS score of the experimental group was higher than that of the control group at 3 months,6 months and 12 months after surgery(P<0.05).Conclusion Improvement on the medial approach retains the superior extensor retinaculum,relative to the combined surgical approach to cut off the superior extensor retinacu-lum treatment Rüedi-Allg?wer Ⅲ Pilon fractures,with shorter operation time,less intraoperative blood loss,less postoperative complications and other advantages.The functional recovery of the ankle joint in the modified antero-medial approach preserving the superior extensor retinaculum was better than that in the combined approach cutting the superior extensor retinaculum.

Objective To explore the clinical efficacy of modified anteromedia approach with superior extensor retinaculars and traditional anteromedia combined with posterolateral approach in the treatment of Rüedi-Allg?wer type Ⅲ Pilon fractures.Methods In this study selected 56 patients with Rüedi-Allg?wer type Ⅲ Pilon fractures treated in our hospital from January 2020 to January 2022,all of whom met the inclusion and exclusion criteria,27 in the experimental group and 29 in the control group.Both groups underwent open reduction and internal fixation of Pilon fractures.The experimental group used a modified anteromedial approach to preserve the supraspinatus,while the control group used a traditional anteromedial combined with posterolateral approach to cut off the supraspinatus.The general clinical data,operation time,intraoperative blood loss,postoperative drainage volume,fracture reduction quality,early pain VAS score,complications and ankle function evaluation of the experimental group and the control group were compared in detail,and the early clinical efficacy of the two surgical methods was analyzed and compared.Results There were no significant differences in age,gender,body mass index(BMI),complications,injury mechanism and the time from admission to operation between the experimental group and the control group(P>0.05).Experimental group:operation time(115.92±12.23)min,intraoperative blood loss(129.25±16.15)mL,postoperative drainage volume(82.44±25.57)mL,fracture healing time(17.89±2.39)w;Control group:operation time(172.75±15.09)min,intraoperative blood loss(177.24±14.36)mL,postoperative drainage volume(115.06±21.95)mL,fracture healing time(19.93±3.75)w.The operative time and fracture healing time of the experimental group were less than those of the control group(P<0.05),and the intraoperative blood loss and postoperative drainage volume of the experimental group were less than those of the control group,the difference was statistically significant(P<0.05).The Buewell-Charnley fracture reduction radio-logical evaluation criteria were used to evaluate the fracture reduction,and the rate of good reduction was 96.29%in the experimental group and 93.10%in the control group.There was no statistical significance in the anatomical reduction between the two groups(P>0.05).Visual analog scale(VAS)was used to evaluate postoperative pain,and pain VAS scores of the experimental group were lower than those of the control group at 3 days,1 week and 4 weeks after surgery(P<0.05).Both groups were followed up for at least 12 months after surgery,and the incidence of postoperative complications in the experimental group was lower than that in the control group(P<0.05).The AOFAS score of the experimental group was higher than that of the control group at 3 months,6 months and 12 months after surgery(P<0.05).Conclusion Improvement on the medial approach retains the superior extensor retinaculum,relative to the combined surgical approach to cut off the superior extensor retinacu-lum treatment Rüedi-Allg?wer Ⅲ Pilon fractures,with shorter operation time,less intraoperative blood loss,less postoperative complications and other advantages.The functional recovery of the ankle joint in the modified antero-medial approach preserving the superior extensor retinaculum was better than that in the combined approach cutting the superior extensor retinaculum.

Humanistic caring for patients in the operating room refers to providing the whole process of caring medical services for patients in the operating room. In order to standardize humanistic caring services for patients in the operating room of medical institutions, improve the comprehensive service level of the operating room, and enhance the surgical experience of patients, the Chinese Association for Life Care released the group standard " Humanistic Caring Management Standards for Patients in the Operating Room" in December 2023. This article interpreted the basic requirements for humanistic caring of patients in the operating room, the environment and facilities for humanistic caring, the procedures and measures for humanistic caring, and the quality management framework, aiming to assist administrators and clinical practitioners across various levels of medical institutions in accurately understanding and effectively implementing the standard, and to provide essential textual reference and practical guidance for promoting the application of the standard.

Objective:To explore the effect of miR-1249-5p on the proliferation, metastasis and cell cycle of PC-3 cell in prostate cancer.Methods:The relationship between the expression level of miR-1249-5p and the overall survival of prostate cancer patients was analyzed using OncoMir Cancer Database (OMCD). The human prostate cancer cell line PC-3 was divided into two groups: miR-1249-5p group and negative control group. Mediated by Lipofectamine 2000, miR-1249-5p mimics liposome complex or negative miRNA liposome complex were transfected into PC-3 cell at logarithmic growth stage. Real-time quantitative polymerase chain reaction (RT-qPCR) was used to detect the expression of miR-1249-5p in PC-3 cell of two groups. Colony formation assay was used to detect the changes of the proliferation ability of PC-3 cell in the two groups. Transwell experiment was used to detect the changes of PC-3 cell invasion in the two groups, and the cell cycle changes of the two groups of PC-3 were detected by flow cytometry. The miRNA prediction software miRGator was used to predict the target gene of miR-1249-5p. RT-qPCR and Western blotting were used to detect the target gene expression of miR-1249-5p. Measurement data were expressed as mean±standard deviation ( ± s), and t-test was used for comparison between two groups. Results:Compared with prostate cancer patients with low miR-1249-5p expression, prostate cancer patients with higher miR-1249-5p expression had longer overall survival, and the difference was statistically significant ( P<0.01). The expression level of miR-1249-5p in the miR-1249-5p group (10.74±1.19) was significantly higher than that of the negative control group (1.56±0.27), the difference was statistically significant ( P<0.01). The number of colonies formed in the miR-1249-5p group (35.86±6.94) was significantly less than that in the negative control group (88.94±11.66), and the difference was statistically significant ( P<0.01). The number of transmembrane cells [(25.01±6.83)/high power field of view] in the miR-1249-5p group was significantly less than that of the negative control group [(82.76±8.35)/high power field of view], and the difference was statistically significant ( P<0.01). The proportion of cells in the G 0-G 1 phase in the miR-1249-5p group [(50.79±6.61)%] was significantly higher than that in the negative control group [(27.09±2.30)%], the difference was statistically significant ( P<0.01), and PC-3 cell were inhibited in the G 0-G 1 phase. Neural precursor cell expressed developmentally down-regulated 9 ( NEDD9) may be the target gene of miR-1249-5p. Compared with the negative control group, the NEDD9 gene expression in the miR-1249-5p group was significantly lower than that of the negative control group, the difference was statistically significant ( P<0.01). Conclusion:miR-1249-5p can inhibit the proliferation, metastasis and cell cycle of PC-3 cell in prostate cancer, which may be achieved by negatively regulating the expression of proto-oncogene NEDD9.

Objective:To investigate the expression of long non-coding RNA (lncRNA) COX10-AS1 in renal cell carcinoma tissues and cell lines and its effect on proliferation and migration of renal cancer cells.Methods:Fluorescence real-time quantitative PCR (qRT-PCR) was used to detect the expression of COX10-AS1 in surgical specimens that have been diagnosed as renal cancer tissues and adjacent tissues by pathology, renal cancer cell lines (786-O, CaKi-1, A498, ACHN) and normal renal tubular epithelium cell line (HK-2). The ACHN cells with the lowest expression were divided into a control group (transfected with a negative control plasmid carrying nonsense sequences) and an experimental group (transfected with a plasmid carrying COX10-AS1 sequences). The expression level of COX10-AS1 was detected by qRT-PCR in two groups of cells. The proliferation and migration ability of ACHN cells were detected by MTS assay and cell scratch assay. The expression of MFN2 mRNA was detected by qRT-PCR. The expressions of MFN2 and Ras-NF-κB signaling pathway proteins were detected by Western blotting. The measurement data were expressed as mean±standard deviation ( Mean± SD), the comparison between the two groups used the t-test, and the comparison among multiple groups adopts the one-way analysis of variance. Results:The expression of COX10-AS1 in renal cell carcinoma was significantly lower than that in adjacent tissues ( P<0.01), The expression of COX10-AS1 in renal cell carcinoma cells was significantly lower than that in renal tubular epithelial cells ( P<0.05), the expression of COX10-AS1 was the lowest in ACHN cells( P<0.01), the above differences were statistically significant compared with the control group, the expression of COX10-AS1 in ACHN cells of experimental group was significantly increased ( P<0.01), the above differences were statistically significant compared with the control cells, the proliferation of ACHN cells in the experimental group was significantly decreased ( P<0.05), and the cell migration ability was significantly decreased ( P<0.01). Compared with the control cells, the expression of MFN2 mRNA in ACHN cells of experimental group was significantly increased ( P<0.01). The expression levels of MFN2 were significantly up-regulated ( P<0.01), and Ras-NF-κB signaling pathway proteins were significantly down-regulated ( P<0.05), the above differences were statistically significant. Conclusions:The expression of COX10-AS1 is decreased in renal cell carcinoma tissues and cell lines. COX10-AS1 may inhibit the proliferation and migration of ACHN cells by promoting the expression of MFN2 gene.

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

Objective To evaluate the short-term and long-term effect of comprehensive traditional Chinese medical therapy for regulating spleen and stomach in treating tinnitus. Methods Telephone follow-up was carried out in 333 cases of qualified tinnitus outpatients and inpatients from the First Affiliated Hospital of Guangzhou University of Chinese Medicine admitted from January of 2008 to December of 2014. All of the included patients were treated by comprehensive traditional Chinese medical therapy for regulating spleen and stomach. The degree of tinnitus was evaluated by Tinnitus Effect Questionnaire(TEQ) on the first visit and the last visit and during follow-up, and then the TEQ scores were analyzed by statistical methods. Results On the first visit, the mean TEQ scores were 11.17 ± 3.11. On the last visit, the mean treatment course was 33.64 ± 37.07 days, and the mean TEQ scores were 9.57 ± 3.43; 5 cases were cured, 25 were markedly effective, 79 were effective, 224 were ineffective, and the total effective rate was 32.73%. The interval of the first follow-up to the first visit averaged 32.89 ± 8.53 months, and the mean TEQ scores were 5.35 ± 3.71 during the interval; 20 cases were cured, 21 were markedly effective, 39 were effective, 43 were ineffective, and the total effective rate was 65.04%. The interval of the second follow-up to the first visit averaged 57.48 ± 7.91 months, and the mean TEQ scores were 3.42 ± 3.39 during the interval; 37 cases were cured, 21 were markedly effective, 26 were effective, 39 were ineffective, and the total effective rate was 68.29%. Conclusion Comprehensive traditional Chinese medical therapy for regulating spleen and stomach has certain effect in treating tinnitus, and the long-term effect is satisfactory.

Objective To evaluate the effect on salvage treatment of sudden deafness with comprehensive Chinese medicine therapy. Methods Fifty-three sudden deafness patients failing in conventional western medicine treatment were given comprehensive Chinese medicine therapy, and the salvage treatment followed by oral use of Chinese medicine, intravenous injection of Chinese patent medicine, acupoint injection, ear acupoint plastering, acupoint application, acupuncture, sound healing, and massage. The therapeutic effect and the relief of major accompanying symptoms were evaluated after treatment, and the relationship of disease course with clinical efficacy was also investigated. Results (1) After treatment, 4 cases were cured, 9 were markedly effective, 13 were effective, 27 were ineffective, and the total effective rate was 49.06%. (2) Except for the 2 excluded cases, the major accompanying symptoms such as tinnitus, auricular distress, and vertigo were relieved to various degrees in other cases. ( 3) Twenty-two patients had a course of disease within 14 days, and the total effective rate for them was 72.73%. A total effective rate of 32.26% was achieved in 31 cases with disease course over 14 days. It is indicated that the therapeutic effect for patients with a disease course less than 14 days was superior to that with a disease course over 14 days (P<0.01). Conclusion Comprehensive Chinese medicine therapy exerts inspiring therapeutic effect on salvage treatment of sudden deafness, and earlier intervention results into better effect.