1.Notoginsenoside R1 modulates mitophagy in human cardiomyocytes viathe Pink1/Parkin pathway after hypoxia/reoxygenation
Xiaoman XIONG ; Huan WU ; Shanglin LU ; Yong WANG ; Yuhua ZHENG ; Yi XIANG ; Haiyan ZHOU ; Xingde LIU
Acta Universitatis Medicinalis Anhui 2026;61(1):53-59
ObjectiveTo investigate the mechanism by which Notoginsenoside R1 (NGR1) ameliorates hypoxia/reoxygenation (H/R)-induced injury in AC16 human cardiomyocyte cell lines through the regulation of mitophagy. MethodsCommon genes linked to hypoxia/reoxygenation injury and mitophagy were identified by intersecting data from GeneCards and MitoCarta databases. AC16 cell viability was assessed via CCK-8 assay under varying NGR1 concentrations (0, 6.25, 12.5, 25, 50, 100, 200, 300, 400, 500 μmol/L). AC16 cells were divided into the following groups: control group (Control), model group (H/R), and treatment groups (H/R + NGR1 at 100, 200 and 300 μmol/L). Mitochondrial membrane potential (ΔΨm) was measured using 5,5',6,6'-tetrachloro-1,1',3,3'-tetraethylbenzimidazolylcarbocyanine iodide (JC-1) staining. Transcriptional levels of mitophagy-related genes (Parkin, Pink1, P62) were quantified by reverse transcription-quantitative PCR (RT-qPCR). Protein expression of mitophagy-related markers (Parkin, Pink1, P62, and LC3BⅡ) was evaluated via Western blot analysis. Mitochondrial ultrastructure was visualized by transmission electron microscopy (TEM). ResultsCompared to the control group, cell viability in the H/R group significantly decreased (P<0.01). Treatment with NGR1 at concentrations above 100 μmol/L significantly enhanced the cell viability of AC16 cells compared to the H/R group (P<0.01). H/R induced a significant decrease in mitochondrial membrane potential (P<0.01), which was restored by NGR1 treatment (P<0.01). The mRNA levels of Parkin, Pink1, and P62 in the H/R group were upregulated compared to the control group (P<0.05), while NGR1 intervention downregulated their expression (P<0.05). Protein expression levels of Parkin, Pink1, and LC3BⅡ in the H/R group significantly increased, while P62 expression decreased compared to the control group (P<0.01). In contrast, different doses of NGR1 treatment significantly reduced the expression of Parkin, Pink1, and LC3BⅡ while increasing P62 expression (P<0.05). TEM revealed that the mitochondrial structure in the H/R group was severely disrupted, with fragmented and disorganized cristae, which was alleviated by NGR1. ConclusionNGR1 ameliorates H/R-induced AC16 cell injury, and its mechanism may be associated with modulating the Pink1/Parkin pathway to suppress excessive mitophagy.
2.Isochronous substitution effects of 24-hour movement behaviors on self-confidence level of junior high school students
XIONG Zhongjia, XIANG Wei, LI Jinkun, LU Changfen, LUO Xiaobing
Chinese Journal of School Health 2026;47(2):227-231
Objective:
To investigate the effects of 24 hour movement behaviors on the self confidence level of junior high school students, providing empirical evidence for optimizing physical activity intervention strategies and enhancing adolescents mental health.
Methods:
In December 2024, a stratified cluster random sampling method was used to select 350 students from 3 junior high schools in Wuhan City. The ActiGraph wGT3X-BT accelerometer was employed to monitor participants 24 hour movement behaviors, and the Children and Adolescents Self confidence Questionnaire was used to assess their self confidence levels. Compositional isotemporal substitution models were applied to analyze the substitution effects among different movement behaviors and their impact on the self confidence level of junior high school students.
Results:
Among the 24 hour movement behaviors of junior high school students, the compositional means and proportions of moderate to vigorous physical activity (MVPA), light physical activity (LPA), sedentary behavior (SB), and sleep (SP) were 33.91 min (2.35%), 151.64 min (10.53%), 761.12 min (52.86%), and 493.33 min (34.26%), respectively. There were no statistically significant differences were found across grade, parental education level, or family economic status ( t/F =0.62,1.50,-1.22, all P >0.05). Significant differences in self confidence levels were observed between male and female junior high students ( t=3.36, P <0.05). Regarding 24 hour movement behaviors, MVPA, LPA, SB and SP exhibited statistically significant differences across gender, grade, and parental education ( Z/H =-6.76-6.15, all P < 0.05 ). Results of component linear regression analysis indicated that the proportion of MVPA time positively predicted junior high school students self confidence levels ( β =4.38), while the proportion of SP time negatively predicted self confidence levels ( β = -11.20 ) (both P <0.05). Isotemporal substitution analysis revealed that replacing 15 minutes of SB and SP with MVPA increased total self confidence scores by 1.53 and 1.97 units, respectively, while the opposite substitution decreased scores by 2.48 and 2.91 units (all P <0.05). Dose response analysis revealed an asymmetric pattern in the isochronous substitution effects between MVPA and SB/SP.
Conclusions
The overall distribution of 24 hour movement behaviors significantly impacts self confidence level of junior high school students. Insufficient MVPA may constrain the positive development of self confidence.
3.Association of traditional Chinese medicine syndromes with blood lipid profiles and cardiovascular prognosis in post-percutaneous coronary intervention atherosclerotic cardiovascular disease patients: a prospective cohort study
Huangyu XU ; Qian LI ; Haozhe XIONG ; Weidong HONG ; Xinyi ZHOU ; Xiaoyan LU ; Xiaoli LIU ; Xinrong FAN
Digital Chinese Medicine 2026;9(1):91-102
Objective:
Patients with atherosclerotic cardiovascular disease (ASCVD) following percutaneous coronary intervention (PCI) are classified as very-high-risk individuals in cardiovascular disease (CVD) risk stratification. The distribution pattern of traditional Chinese medicine (TCM) syndromes in this patient population, as well as its association with blood lipid profiles and clinical prognosis, remains unclear. The present prospective cohort study aims to investigate these correlations, thereby providing insights to enrich the research fields.
Methods:
We enrolled consecutive patients with ASCVD who underwent PCI at the Integrated Cardiology Unit of China-Japan Friendship Hospital between September 1, 2020 and December 31, 2022. Demographics and clinical characteristics, signs and symptoms defining each TCM syndrome, and fasting venous blood samples were collected at baseline and follow up or upon major adverse cardiovascular events (MACEs). We analyzed the correlation between TCM syndromes, blood lipid profiles, and MACEs, and developed a new joint prognostic model incorporating both TCM syndromes and blood lipids using logistic regression. The analyses were based on detailed baseline and one-year follow-up data.
Results:
A per-protocol analysis was performed on 586 patients with complete data ultimately. During the one-year follow-up, 174 patients (29.69%) experienced a MACE. We performed statistical analyses on comorbidities, medication, and biochemical indicators across groups defined by TCM syndrome differentiation. When comparing different TCM syndromes, no significant differences were found in age, body mass index (BMI), history of revascularization, comorbidities, family history of CVD, smoking or drinking, or statin intensity (P > 0.05). Patients with intertwined phlegm and blood stasis syndrome exhibited significantly higher levels of total cholesterol (TC, 5.27 ± 1.18 mmol/L, P < 0.001), triglyceride (TG, 1.96 ± 1.33 mmol/L, P = 0.008), low-density lipoprotein cholesterol (LDL-C, 3.35 ± 0.79 mmol/L, P < 0.001), and high-density lipoprotein cholesterol (HDL-C, 1.24 ± 0.81 mmol/L, P < 0.001) compared with those with other TCM syndromes combined. A multivariable logistic regression model was constructed to predict MACEs. The model included TCM syndrome type [with intertwined phlegm and blood stasis as a predictor, adjusted odds ratio (OR) = 1.413, 95% confidence interval (CI): 0.517 – 3.864, P = 0.501], age (adjusted OR = 0.97, 95% CI: 0.955 – 1.001, P = 0.057), male gender (adjusted OR = 0.698, 95% CI: 0.416 – 1.170, P = 0.173), TC (adjusted OR = 1.004, 95% CI: 0.513 – 1.965, P = 0.990), and LDL-C (adjusted OR = 5.825, 95% CI: 2.214 – 15.326, P < 0.001). This model demonstrated good discriminatory ability for MACEs in post-PCI ASCVD patients [the area under the receiver operating characteristic (ROC) curve (AUC) = 0.865, 95% CI: 0.816 – 0.914].
Conclusion
The intertwined phlegm and blood stasis TCM syndrome is associated with a distinct atherogenic lipid profile characterized by elevated levels of TC and LDL-C. The prognostic model that incorporates this TCM syndrome type along with conventional lipid parameters (TC and LDL-C) shows good discriminatory ability for predicting MACEs in ASCVD patients after PCI, underscoring the potential clinical utility of integrating TCM syndrome differentiation into CVD risk assessment.
4.Latent profile analysis of regulatory emotional self-efficacy and nonsuicidal self-injury behavior among junior and senior high school students
WU Jinyi, ZHANG Wanzhu, ZHAO Wenxin, GAO Ying, DENG Xiwen, XIONG Meiqi, LU Jingjing
Chinese Journal of School Health 2026;47(3):360-364
Objective:
To explore the latent profile characteristics of regulatory emotional self-efficacy and its relationship with non-suicidal self-injurious (NSSI) behavior among junior and senior high school students, so as to provide a basis for effectively reducing NSSI behaviors.
Methods:
From April to October 2023, a total of 1 217 junior and senior high school students were selected from Tongren City, Zunyi City and Qiannan Prefecture of Guizhou Province by stratified cluster random sampling method. The Scale of Regulatory Emotional Self-efficacy and the Adolescent Self-injury Scale were administered. Latent profile analysis (LPA) was employed to explore distinct profiles of regulatory emotional self-efficacy, and the Lanza, Tan, and Bray s method (LTB) was used to analyze the relationship between these profiles and NSSI behavior.
Results:
The prevalence rate of NSSI behavior among junior and senior high school students was 28.6%. Among males, regulatory emotional self-efficacy was categorized into two types: moderate positive expression-low negative management group (59.1%, n =353) and high efficacy group (40.9%, n =244); among females, regulatory emotional self-efficacy was classified into three categories: low efficacy group (18.4%, n =114), high positive expression-low negative management group (56.3%, n =349), and high efficacy group (25.3%, n =157). There were statistically significant differences in total NSSI scores across different potential categories of regulatory emotional self-efficacy within both males and females ( Z/H = -5.75 , 57.58, both P <0.01). The differences in NSSI prevalence rates across the potential categories of regulatory emotional self-efficacy were statistically significant for both males and females ( χ 2=38.00, 69.14, both P <0.01), and among females, the differences in NSSI prevalence rates between the high efficacy group and the low efficacy group ( χ 2=60.01) and between the high efficacy group and the high positive expression-low negative management group ( χ 2=31.34) were also statistically significant (both P < 0.016 7 ). Binary Logistic regression analysis revealed that, compared with the high efficacy group within each gender, the moderate positive expression-low negative management group among males ( OR =2.36), and both the low efficacy group and the high positive expression-low negative management group among females ( OR =6.19, 2.97), were at an increased risk of engaging in NSSI (all P <0.01).
Conclusion
Different latent profiles of regulatory emotional self efficacy among junior and senior high school students are associated with NSSI behavior.
5.Epidemiological characteristics of category C intestinal infectious diseases among children and adolescents in Shenzhen from 2012 to 2024 and the association with meteorological factors
Chinese Journal of School Health 2026;47(4):553-557
Objective:
To analyze the epidemiological characteristics of category C intestinal infectious diseases among children and adolescents in Shenzhen from 2012 to 2024 and the association with meteorological factors, so as to provide a scientific basis for the targeted prevention and control of infectious diseases for children and adolescents.
Methods:
Using data from the "Infectious Disease Reporting Information Management System" of the "China Disease Prevention and Control Information System" covering the period from January 1, 2012 to December 31, 2024, the study analyzed clinical and confirmed cases of hand, foot, and mouth disease, other infectious diarrhea, and acute hemorrhagic conjunctivitis among individuals aged 6-19 years old to describe demographic and temporal characteristics. It used Joinpoint regression to calculate the average annual percent change (AAPC) and annual percent change (APC) to analyze incidence trends, and Spearman s correlation was combined to generalize linear models so as to assess the association between category C intestinal infectious diseases and meteorological factors.
Results:
From 2012 to 2024, a cumulative total of 61 019 cases of hand, foot, and mouth disease among children and adolescents, 58 498 cases of other infectious diarrhea, and 6 377 cases of acute hemorrhagic conjunctivitis were reported. The AAPC in the incidence rates of these three diseases was 19.19%, 31.03% and 31.48 %, respectively(all P <0.05). Notably, the incidence of hand, foot, and mouth disease increased significantly after 2022 (APC= 133.66 %, P <0.01). The temporal distribution showed that hand,foot,and mouth disease was most prevalent in May,June and July (seasonal index of 2.39,3.64,1.97), other infectious diarrhea was most prevalent in February,March and December (seasonal index of 1.22,1.25,1.47), and acute hemorrhagic conjunctivitis peaked in September and October (seasonal index of 4.22,2.16). Monthly average temperature could increase the risk of hand,foot,and mouth disease( β = 0.18 ,95% CI =0.11-0.25); as monthly average wind speed increased, the incidence of other infectious diarrhea ( β =-0.86, 95% CI = -1.50 to -0.22) and acute hemorrhagic conjunctivitis ( β =-1.32, 95% CI =-2.60 to -0.05) both decreased (all P < 0.05 ).
Conclusions
Among children and adolescents in Shenzhen, category C intestinal infectious diseases remain prevalent throughout the year;the number of reported hand, foot, and mouth disease cases has shown an upward trend in recent years.Temperature and wind speed significantly affect the number of reported cases of three types with category C intestinal infectious diseases.
6.Effect of Highly Expressed lysophosphatidyllecithin acyltransferase 4 on Proliferation of Pancreatic Cancer
Haoming LU ; Jin HUANG ; Yixi WU ; Jiayin LU ; Zhenpei LI ; Xiuying XIONG ; Jiawen YE ; Xia YANG
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(3):401-409
ObjectiveTo investigate the expression level of lysophosphatidyllecithin acyltransferase 4 (LPCAT4) in pancreatic cancer and its effect on the proliferation of pancreatic cancer cells. MethodsIn this study, the differentially expressed genes of patients with KRAS mutant and wild-type pancreatic cancer were analyzed by online database LinkedOmics. The LPCAT4 expression in pancreatic cancer tissues was analyzed online by the University of Alabama at Birmingham Cancer Data Analysis (UALCAN), Sangerbox and gene expression profile interaction analysis 2 (GEPIA2). Kaplan-Meier Plotter database was used to explore the correlation between LPCAT4 and the prognosis of patients with pancreatic cancer. The expression of LPCAT4 in human pancreatic cancer cells were detected by quantitative real-time PCR and Western blot analysis. LPCAT4 was knocked down in the high-expressing SW1990 cell line and overexpressed in the low-expressing MIA PaCa-2 cell line. The effects of LPCAT4 expression on cell proliferation were assessed using CCK-8 and EdU assays. STRING and GEPIA2 databases were used to obtain LPCAT4 binding and coexpressed genes in tumors, which were then analyzed by GO and KEGG. ResultsAnalysis of the LinkedOmics online database revealed a significant upregulation of LPCAT4 in patients with KRAS mutant pancreatic cancer compared to patients with KRAS wild-type pancreatic cancer. The online analysis of GEPIA2, UALCAN and Sangerbox 3.0 showed that the expression of LPCAT4 was higher in pancreatic cancer than in normal tissues. Analysis of the Kaplan-Meier Plotter database revealed that high LPCAT4 expression was associated with poorer prognosis in pancreatic cancer patients.Western blot and qPCR results showed that expression of LPCAT4 in pancreatic cancer cell lines was significantly higher than in normal pancreatic ductal epithelial cells. Knockdown of LPCAT4 in SW1990 cells inhibited proliferation, while overexpression in MIA PaCa-2 cells promoted proliferation. Enrichment analysis indicated that LPCAT4 was closely related to sulfur metabolism. ConclusionsLPCAT4 is highly expressed in pancreatic cancer and is associated with poor prognosis of patients. It plays a significant regulatory role in the proliferation of pancreatic cancer cells, with its expression level closely correlated with cell proliferation capacity. These findings reveal the critical role of LPCAT4 in the malignant progression of pancreatic cancer and provide important evidence for its potential as a therapeutic target.
7.Surgical approaches to varicocele: a systematic review and network meta-analysis.
Lin-Jie LU ; Kai XIONG ; Sheng-Lan YUAN ; Bang-Wei CHE ; Jian-Cheng ZHAI ; Chuan-Chuan WU ; Yang ZHANG ; Hong-Yan ZHANG ; Kai-Fa TANG
Asian Journal of Andrology 2025;27(6):728-737
Surgical methods for varicocele remain controversial. This study intends to evaluate the efficacy and safety of different surgical approaches for treating varicocele through a network meta-analysis (NMA). PubMed, Embase, Cochrane, and Web of Science databases were thoroughly searched. In total, 13 randomized controlled trials (RCTs) and 24 cohort studies were included, covering 9 different surgical methods. Pairwise meta-analysis and NMA were performed by means of random-effects models, and interventions were ranked based on the surface under the cumulative ranking curve (SUCRA). According to the SUCRA, microsurgical subinguinal varicocelectomy (MSV; 91.6%), microsurgical retroperitoneal varicocelectomy (MRV; 78.2%), and microsurgical inguinal varicocelectomy (MIV; 76.7%) demonstrated the highest effectiveness in reducing postoperative recurrence rates. In this study, sclerotherapy embolization (SE; 87.2%), MSV (77.9%), and MIV (67.7%) showed the best results in lowering the risk of hydrocele occurrence. MIV (82.9%), MSV (75.9%), and coil embolization (CE; 58.7%) were notably effective in increasing sperm motility. Moreover, CE (76.7%), subinguinal approach varicocelectomy (SV; 69.2%), and SE (55.7%) were the most effective in increasing sperm count. SE (82.5%), transabdominal laparoscopic varicocelectomy (TLV; 76.5%), and MRV (52.7%) were superior in shortening the length of hospital stay. The incidence rates of adverse events for MRV (0), SE (3.3%), and MIV (4.1%) were notably low. Cluster analyses indicated that MSV was the most effective in the treatment of varicocele. Based on the existing evidence, MSV may represent the optimal choice for varicocele surgery. However, selecting clinical surgical strategies requires consideration of various factors, including patient needs, surgeon experience, and the learning curve.
Humans
;
Male
;
Embolization, Therapeutic/methods*
;
Microsurgery/methods*
;
Randomized Controlled Trials as Topic
;
Sclerotherapy/methods*
;
Treatment Outcome
;
Urologic Surgical Procedures, Male/methods*
;
Varicocele/surgery*
8.Clinical and drug sensitivity characteristics of invasive non-typhoidal Salmonella enteritis in children aged 0-6 years in Chengdu, China, 2022-2023.
Ling-Rong YANG ; Chun-Ting ZHOU ; Jing GUO ; Yu-Lu WU ; Fu XIONG
Chinese Journal of Contemporary Pediatrics 2025;27(3):315-320
OBJECTIVES:
To investigate the clinical characteristics and drug resistance profile of invasive non-typhoidal Salmonella (NTS) enteritis in children in Chengdu, China, providing a reference for rational drug use and empirical treatment in clinical practice.
METHODS:
A retrospective analysis was conducted on the clinical data of 130 children with invasive bacterial enteritis due to NTS identified by fecal bacterial culture and the results of drug sensitivity tests for NTS in Chengdu from January 2022 to December 2023.
RESULTS:
NTS infections were mainly observed from April to September (113 cases, 86.9%), with a peak in August (36 cases, 27.7%). Children aged <36 months accounted for 86.2% (112/130) of all cases, and the main symptoms were diarrhea (130 cases, 100%), fever (123 cases, 94.6%), and hematochezia (112 cases, 86.2%). The 130 NTS isolates exhibited a sensitivity rate of 64.6% to ceftriaxone and 63.8% to cefotaxime, and a sensitivity rate of >90.0% to piperacillin-tazobactam and nitrofurantoin (nitrofurans). The detection rate of multidrug-resistant strains was 48.5% (63/130), and the clinical efficacy of third-generation cephalosporins used in 38 patients (29.2%) was inconsistent with the results of drug sensitivity tests.
CONCLUSIONS
The peak of invasive NTS enteritis in children aged 0-6 years occurs in August in the Chengdu area, with a relatively high incidence rate in children aged <36 months. The situation of drug resistance is severe for NTS, and piperacillin-tazobactam may be an effective option for treating multidrug-resistant NTS infections in children, while nitrofuran antibiotics might be used to treat such infections.
Humans
;
Infant
;
Child, Preschool
;
Enteritis/microbiology*
;
Retrospective Studies
;
Male
;
Salmonella Infections/microbiology*
;
Female
;
Child
;
Salmonella/drug effects*
;
Infant, Newborn
;
Microbial Sensitivity Tests
;
Anti-Bacterial Agents/therapeutic use*
9.Prognostic significance of molecular minimal residual disease before and after allogeneic hematopoietic stem cell transplantation in children with acute myeloid leukemia.
Xiu-Wen XU ; Hao XIONG ; Jian-Xin LI ; Zhi CHEN ; Fang TAO ; Yu DU ; Zhuo WANG ; Li YANG ; Wen-Jie LU ; Ming SUN
Chinese Journal of Contemporary Pediatrics 2025;27(6):675-681
OBJECTIVES:
To investigate the prognostic value of molecular minimal residual disease (Mol-MRD) monitored before and after allogeneic hematopoietic stem cell transplantation (HSCT) in pediatric acute myeloid leukemia (AML).
METHODS:
Clinical data of 71 pediatric AML patients who underwent HSCT between August 2016 and December 2023 were analyzed. Mol-MRD levels were dynamically monitored in MRD-positive patients, and survival outcomes were evaluated.
RESULTS:
No significant difference in the 3-year overall survival (OS) rate was observed between patients with pre-HSCT Mol-MRD ≥0.01% and <0.01% (77.3% ± 8.9% vs 80.4% ± 7.9%, P=0.705). However, patients with pre-HSCT Mol-MRD <1.75% had a significantly higher 3-year OS rate than those with Mol-MRD ≥1.75% (86.6% ± 5.6% vs 44.4% ± 16.6%, P=0.020). The median Mol-MRD level in long-term survivors was significantly lower than in non-survivors [0.61% (range: 0.04%-51.58%)] vs 10.60% (range: 1.90%-19.75%), P=0.035]. Concurrent flow cytometry-based MRD positivity was significantly higher in non-survivors (80% vs 24%, P=0.039). There was no significant difference in the 3-year overall survival rate between patients with Mol-MRD ≥0.01% and those with <0.01% at 30 days post-HSCT (P=0.527). For children with Mol-MRD <0.22% at 30 days post-HSCT, the 3-year overall survival rate was 80.4% ± 5.9%, showing no significant difference compared to those with molecular negativity (87.0% ± 7.0%) (P=0.523).
CONCLUSIONS
Patients with pre-HSCT Mol-MRD <1.75% or post-HSCT Mol-MRD <0.22% may achieve long-term survival outcomes comparable to Mol-MRD-negative cases through HSCT and targeted interventions.
Humans
;
Hematopoietic Stem Cell Transplantation
;
Neoplasm, Residual
;
Leukemia, Myeloid, Acute/genetics*
;
Child
;
Male
;
Female
;
Child, Preschool
;
Prognosis
;
Adolescent
;
Infant
;
Transplantation, Homologous
10.Analysis and clinical characteristics of SLC26A4 gene mutations in 72 cases of large vestibular aqueduct syndrome.
Yuqing LIU ; Wenyu XIONG ; Yu LU ; Lisong LIANG ; Kejie YANG ; Li LAN ; Wei HAN ; Qing YE ; Min WANG ; Yuan ZHANG ; Fangying TAO ; Zuwei CAO ; Wei HUANG ; Xue YANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(7):603-609
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


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