1.Current Status and Strategies of Integrated Traditional Chinese and Western Medicine in the Treatment of Helicobacter pylori Infection
Xuezhi ZHANG ; Xia DING ; Zhen LIU ; Hui YE ; Xiaofen JIA ; Hong CHENG ; Zhenyu WU ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(1):111-116
This paper systematically reviews the current status of integrated traditional Chinese and western medicine in the treatment of Helicobacter pylori (Hp) infection, as well as recent progress in clinical and basic research both in China and internationally. It summarizes the advantages of traditional Chinese medicine (TCM) in Hp infection management, including improving Hp eradication rates, enhancing antibiotic sensitivity, reducing antimicrobial resistance, decreasing drug-related adverse effects, and ameliorating gastric mucosal lesions. These advantages are particularly evident in patients who are intolerant to bismuth-containing regimens, those with refractory Hp infection, and individuals with precancerous gastric lesions. An integrated, whole-process management approach and individualized, staged comprehensive treatment strategies combining TCM and western medicine are proposed for Hp infection. Future prevention and control of Hp infection should adopt an integrative Chinese-western medical strategy, emphasizing prevention, strengthening primary care, implementing proactive long-term monitoring, optimizing screening strategies, and advancing the development of novel technologies and mechanistic studies of Chinese herbal interventions. These efforts aim to provide a theoretical basis and practical pathways for the establishment and improvement of Hp infection prevention and control systems.
2.Spatiotemporal Electrical Impedance Tomography for Speech Respiratory Assessment in Cleft Palate: an Interpretable Machine Learning Study
Yang WU ; Xiao-Jing ZHANG ; Hao YU ; Cheng-Hui JIANG ; Bo SUN ; Jia-Feng YAO
Progress in Biochemistry and Biophysics 2026;53(2):485-500
ObjectiveCleft palate (CP) is a common congenital deformity often associated with velopharyngeal insufficiency (VPI), which disrupts the physiological coupling between respiration and speech. Conventional clinical assessments, such as nasometry and spirometry, provide limited static data and fail to visualize the dynamic spatiotemporal distribution of lung ventilation during phonation. This study introduces spatiotemporal electrical impedance tomography (ST-EIT) to evaluate speech-respiratory functional features in CP patients compared to normal controls (NC). The aim is to characterize multi-domain respiratory patterns and to validate an interpretable machine learning framework for providing objective, quantitative evidence for clinical assessment. MethodsSeventy-five participants were enrolled in this study, comprising 37 patients with surgically repaired CP and 38 healthy volunteers matched for age, gender, and body mass index (BMI). All subjects performed standardized sustained phonation tasks while undergoing synchronous monitoring with a 16-electrode EIT system and a pneumotachograph. A comprehensive feature engineering pipeline was developed to extract physiological parameters across 3 complementary domains. (1) Temporal domain: including inspiratory/expiratory phase duration (tPhase), time constants (Tau), and inspiratory-to-expiratory time ratios (TI/TE); (2) airflow domain: comprising mean flow, peak flow, and instantaneous flow at 25%, 50%, and 75% of tidal volume; and (3) spatial domain: quantifying global and regional tidal impedance variation (TIV), global inhomogeneity (GI), and center of ventilation (CoV). Extreme Gradient Boosting (XGBoost) classifiers were trained using 5 distinct data sources (Spirometry, Nasometry, Inspiratory-EIT, Expiratory-EIT, and fused ST-EIT). Model performance was rigorously evaluated via stratified 5-fold cross-validation, and Shapley additive explanations (SHAP) were employed to quantify global and local feature contributions. ResultsThe CP group exhibited a distinct respiratory phenotype compared to controls. In the temporal domain, CP patients showed significantly shorter inspiratory (1.60 s vs.1.85 s, P<0.001) and expiratory phase durations (2.45 s vs. 3.95 s, P<0.001), indicating a rapid, shallow breathing rhythm. In the airflow domain, while inspiratory flows were comparable, the CP group demonstrated significantly elevated mean and peak flows during the expiratory phase (P<0.001), reflecting compensatory respiratory effort. Spatially, CP patients presented significant ventilation redistribution, characterized by higher regional TIV in the right-anterior (ROI1) and left-posterior (ROI4) quadrants, but lower TIV in the left-anterior (ROI2) quadrant. In terms of diagnostic accuracy, the multi-modal ST-EIT model achieved the highest performance (AUC: 0.915±0.012, Accuracy: 0.843±0.019, F1-score: 0.872±0.017), substantially outperforming models based on spirometry (AUC: 0.721) or nasometry (AUC: 0.625) alone. Interpretability analysis revealed that spatial domain features were the most critical, contributing 53.4% to the model’s decision-making, followed by temporal (25.0%) and airflow (21.6%) features. ConclusionST-EIT successfully captures the temporal, airflow, and spatial deviations in CP speech respiration that are undetectable by conventional methods—specifically, rapid phase transitions, hyperdynamic expiratory airflow, and regional ventilation heterogeneity. This study validates ST-EIT as a robust, non-invasive, and radiation-free tool for characterizing speech-respiratory dysfunction, offering high clinical value for bedside screening, rehabilitation planning, and longitudinal monitoring of patients with cleft palate.
3.Spatiotemporal Electrical Impedance Tomography for Speech Respiratory Assessment in Cleft Palate: an Interpretable Machine Learning Study
Yang WU ; Xiao-Jing ZHANG ; Hao YU ; Cheng-Hui JIANG ; Bo SUN ; Jia-Feng YAO
Progress in Biochemistry and Biophysics 2026;53(2):485-500
ObjectiveCleft palate (CP) is a common congenital deformity often associated with velopharyngeal insufficiency (VPI), which disrupts the physiological coupling between respiration and speech. Conventional clinical assessments, such as nasometry and spirometry, provide limited static data and fail to visualize the dynamic spatiotemporal distribution of lung ventilation during phonation. This study introduces spatiotemporal electrical impedance tomography (ST-EIT) to evaluate speech-respiratory functional features in CP patients compared to normal controls (NC). The aim is to characterize multi-domain respiratory patterns and to validate an interpretable machine learning framework for providing objective, quantitative evidence for clinical assessment. MethodsSeventy-five participants were enrolled in this study, comprising 37 patients with surgically repaired CP and 38 healthy volunteers matched for age, gender, and body mass index (BMI). All subjects performed standardized sustained phonation tasks while undergoing synchronous monitoring with a 16-electrode EIT system and a pneumotachograph. A comprehensive feature engineering pipeline was developed to extract physiological parameters across 3 complementary domains. (1) Temporal domain: including inspiratory/expiratory phase duration (tPhase), time constants (Tau), and inspiratory-to-expiratory time ratios (TI/TE); (2) airflow domain: comprising mean flow, peak flow, and instantaneous flow at 25%, 50%, and 75% of tidal volume; and (3) spatial domain: quantifying global and regional tidal impedance variation (TIV), global inhomogeneity (GI), and center of ventilation (CoV). Extreme Gradient Boosting (XGBoost) classifiers were trained using 5 distinct data sources (Spirometry, Nasometry, Inspiratory-EIT, Expiratory-EIT, and fused ST-EIT). Model performance was rigorously evaluated via stratified 5-fold cross-validation, and Shapley additive explanations (SHAP) were employed to quantify global and local feature contributions. ResultsThe CP group exhibited a distinct respiratory phenotype compared to controls. In the temporal domain, CP patients showed significantly shorter inspiratory (1.60 s vs.1.85 s, P<0.001) and expiratory phase durations (2.45 s vs. 3.95 s, P<0.001), indicating a rapid, shallow breathing rhythm. In the airflow domain, while inspiratory flows were comparable, the CP group demonstrated significantly elevated mean and peak flows during the expiratory phase (P<0.001), reflecting compensatory respiratory effort. Spatially, CP patients presented significant ventilation redistribution, characterized by higher regional TIV in the right-anterior (ROI1) and left-posterior (ROI4) quadrants, but lower TIV in the left-anterior (ROI2) quadrant. In terms of diagnostic accuracy, the multi-modal ST-EIT model achieved the highest performance (AUC: 0.915±0.012, Accuracy: 0.843±0.019, F1-score: 0.872±0.017), substantially outperforming models based on spirometry (AUC: 0.721) or nasometry (AUC: 0.625) alone. Interpretability analysis revealed that spatial domain features were the most critical, contributing 53.4% to the model’s decision-making, followed by temporal (25.0%) and airflow (21.6%) features. ConclusionST-EIT successfully captures the temporal, airflow, and spatial deviations in CP speech respiration that are undetectable by conventional methods—specifically, rapid phase transitions, hyperdynamic expiratory airflow, and regional ventilation heterogeneity. This study validates ST-EIT as a robust, non-invasive, and radiation-free tool for characterizing speech-respiratory dysfunction, offering high clinical value for bedside screening, rehabilitation planning, and longitudinal monitoring of patients with cleft palate.
4.Shaoyaotang Regulates miRNA-155-mediated SOCS1/JAK1/STAT1 Signaling Pathway to Affect Macrophage Polarization
Qi CHENG ; Bo ZOU ; Youwei XIAO ; Yiqian YU ; Ruoru HUANG ; Yan GONG ; Jiachun XIONG ; Jun XIONG ; Dichang LAI ; Dongsheng WU ; Hui CAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(13):43-52
ObjectiveTo investigate the mechanism by which Shaoyaotang regulates the miRNA-155-mediated suppressor of cytokine signaling 1 (SOCS1)/Janus kinase 1 (JAK1)/signal transducer and activator of transcription 1 (STAT1) signaling pathway and thereby affects macrophage polarization. MethodsThe cell-counting kit-8 (CCK-8) assay was used to detect the effect of drug-containing serum of Shaoyaotang at different concentrations on the viability of RAW 264.7 cells. A cell model of inflammation was established by stimulating RAW264.7 cells with lipopolysaccharide (LPS) at a concentration of 10 mg·L-1 The modeled cells were assigned by the random number table method into seven groups: LPS-induced M1 polarization (model), M1+miRNA-155 mimics, M1+miRNA-155 inhibitor, M1+Shaoyaotang-containing serum, M1+miRNA-155 mimics+Shaoyaotang-containing serum, M1+miRNA-155 inhibitor+Shaoyaotang-containing serum, and M1+blank serum. Enzyme-linked immunosorbent assay was employed to measure the levels of inflammatory factors [tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and interleukin-1β (IL-1β)]. Immunofluorescence assay was used to detect the expression of macrophage polarization markers [inducible nitric oxide synthase (iNOS) and macrophage mannose receptor 1 (CD206)]. Real-time PCR was employed to measure the expression of miRNA-155 in cells. Western blot was performed to determine the protein levels of SOCS1, STAT1, and JAK1. ResultsCompared with the LPS-induced M1 polarization (model) group, the M1+miRNA-155 mimics group showed up-regulated expression of miRNA-155, JAK1, STAT1, TNF-α, IL-6, IL-1β, and iNOS (P<0.05) and down-regulated expression of CD206 (P<0.05). In both the M1+miRNA-155 inhibitor group and the M1+Shaoyaotang-containing serum group, the expression levels of miRNA-155, JAK1, STAT1, TNF-α, IL-6, IL-1β, and iNOS were down-regulated (P<0.05), while those of SOCS1 and CD206 were up-regulated (P<0.05). Compared with the M1+miRNA-155 mimics group, the M1+miRNA-155 mimics+Shaoyaotang-containing serum group showed down-regulated expression of miRNA-155, JAK1, STAT1, TNF-α, IL-6, IL-1β, and iNOS (P<0.05) and up-regulated expression of SOCS1 and CD206 (P<0.05). Compared with the M1+miRNA-155 inhibitor group, the M1+miRNA-155 inhibitor+Shaoyaotang-containing serum group showed down-regulated expression of miRNA-155, JAK1, STAT1, TNF-α, IL-6, IL-1β, and iNOS (P<0.05) and up-regulated expression of SOCS1 and CD206 (P<0.05). ConclusionShaoyaotang regulates macrophage polarization by modulating miRNA-155 expression and interfering with the SOCS1/JAK1/STAT1 signaling pathway. The findings provide new experimental evidence for the treatment of ulcerative colitis with Shaoyaotang.
5.Effect and Mechanisms of Shaoyaotang on Murine Ulcerative Colitis via Modulating Macrophage Glycolytic Reprogramming and Polarization Through HIF-1α Pathway
Yiqian YU ; Hui CAO ; Dongsheng WU ; Bo ZOU ; Ruoru HUANG ; Qi CHENG ; Youwei XIAO ; Yan GONG ; Jiachun XIONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(13):53-60
ObjectiveTo investigate the potential role and underlying mechanisms of Shaoyaotang in intervening macrophage glycolytic reprogramming in ulcerative colitis (UC). MethodsForty-eight C57BL/6 mice were randomly divided into six groups: Normal control group, model group, mesalazine group (0.39 g·kg-1), Shaoyaotang group (15.54 g·kg-1), 2-deoxy-D-glucose (2-DG) group (glycolysis inhibitor, 100 mg·kg-1), and 2-DG + Shaoyaotang combined group (100 mg·kg-1+15.54 g·kg-1). Except for the normal control group, mice in the other five groups were induced to establish UC models using dextran sulfate sodium (DSS). The normal control group was administered pure water via intragastric gavage, while the other groups received intragastric gavage of mesalazine solution, intragastric gavage of Shaoyaotang, and the 2-DG group was treated with 2-DG via intraperitoneal injection. After 7 consecutive days of treatment, colonic tissues were extracted. Hematoxylin and eosin (HE) staining was performed to evaluate histopathological changes and tissue injury in the colon. Enzyme-linked immunosorbent assay (ELISA) was used to detect the expression of interleukin-10 (IL-10) and tumor necrosis factor-α (TNF-α) in colonic tissues. Western blot analysis was employed to determine the expression levels of hypoxia-inducible factor-1α (HIF-1α), glucose transporter (GLUT1), lactate dehydrogenase A (LDHA), pyruvate kinase M2 (PKM2), and 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3) in colonic tissues. Immunofluorescence was conducted to detect the expression of CD206 and inducible nitric oxide synthase (iNOS) in colonic tissues. Liquid chromatography-mass spectrometry (LC-MS) was utilized to measure lactate and citrate levels in colonic tissues. ResultsCompared with the normal control group, mice in the model group exhibited a significant increase in disease activity index (DAI) scores, accompanied by colonic mucosal congestion, edema, and inflammatory cell infiltration, significantly elevated expression of the inflammatory cytokine TNF-α (P<0.05), significantly decreased IL-10 expression (P<0.05), significantly increased levels of HIF-1α, GLUT1, LDHA, PKM2, and PFKFB3 in colonic tissues (P<0.05), markedly elevated iNOS expression (P<0.05), significantly decreased CD206 expression (P<0.05), and significantly elevated lactate and citrate levels in colonic tissues (P<0.05). In contrast to the model group, the Shaoyaotang group, inhibitor group, and Shaoyaotang combined with inhibitor group demonstrated amelioration of mucosal injury in colonic tissues, markely decreased expression levels of the inflammatory cytokine TNF-α (P<0.05), elevated IL-10 expression levels, significantly decreased expression of HIF-1α, GLUT1, LDHA, PKM2, and PFKFB3 (P<0.05), markedly reduced iNOS expression levels (P<0.05), significantly increased CD206 expression (P<0.05) and significantly decreased lactate and citrate levels (P<0.05). ConclusionShaoyaotang ameliorates symptoms of DSS-induced UC in mice, and its therapeutic mechanism may be associated with regulating macrophage glycolytic reprogramming via modulation of the HIF-1α signaling pathway.
6.Shaoyaotang Ameliorates Ulcerative Colitis by Regulating miR-155-5p
Ruoru HUANG ; Bo ZOU ; Yu ZHANG ; Yiqian YU ; Qi CHENG ; Youwei XIAO ; Jiachun XIONG ; Yan GONG ; Dongshen WU ; Hui CAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(13):61-68
ObjectiveTo investigate the role of microRNA-155-5p (miR-155-5p) in ulcerative colitis (UC) and study the molecular mechanism of Shaoyaotang in the treatment of UC by regulating miR-155-5p. MethodsForty-eight SPF-grade male C57BL/6 mice were selected and assigned via the random number table method into 6 groups (n=8): A blank control group, a model group, a mesalazine (0.39 g·kg-1) group, a Shaoyaotang (31.08 g·kg-1) group, a Janus kinase 1 (JAK1) inhibitor (baricitinib, 10 mg·kg-1) group, and a Shaoyaotang combined with inhibitor (baricitinib 10 mg·kg-1 + Shaoyaotang 31.08 g·kg-1) group. After successful modeling of UC by gavage of 3% dextran sulphate sodium solution, each group received corresponding drug intervention for 7 days. Shaoyaotang and mesalazine were administered by gavage, and baricitinib by intraperitoneal injection. Twenty-four hours after the last administration, mice were anesthetized by intraperitoneal injection of pentobarbital sodium, and blood was collected for determination of white blood cell count and erythrocyte sedimentation rate (ESR). Mice were then sacrificed for measurement of colon length. Hematoxylin-eosin staining was used to observe colonic pathological changes and perform pathological scoring. Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) was employed to determine the relative expression of miR-155-5p in the colonic tissue, and Western blot was used to determine the protein levels of JAK1, phosphorylated JAK1 (p-JAK1), suppressor of cytokine signaling 1 (SOCS1), signal transducer and activator of transcription 1 (STAT1), and phosphorylated STAT1 (p-STAT1). ResultsCompared with the blank control group, the model group showed increased disease activity index (DAI) score and pathological score, shortened colon, upregulated relative expression of miR-155-5p and protein levels of p-JAK1 and p-STAT1, downregulated protein level of SOCS1 in the colonic tissue, prolonged time of erythrocyte sedimentation, and increased white blood cell count (P<0.01). Compared with the model group, all drug-treated groups exhibited improvements in the above indicators (P<0.01). Moreover, the Shaoyaotang group showed better therapeutic effects than the mesalazine group in regulating miR-155-5p expression, related protein levels, DAI score, and colonic pathological score (P<0.01). ConclusionShaoyaotang may downregulate miR-155-5p to relieve its inhibition on SOCS1, thereby suppressing the excessive activation of the JAK1/STAT1 signaling pathway and ultimately alleviating intestinal inflammatory damage.
7.Molecular mechanism of programmed cell death in lung cancer and progress in traditional Chinese medicine intervention.
Cheng LUO ; Bo NING ; Xin-Yue ZHANG ; Yu-Zhi HUO ; Xin-Hui WU ; Yuan-Hang YE ; Fei WANG
China Journal of Chinese Materia Medica 2025;50(3):632-643
Lung cancer is one of the most common and deadliest cancers globally, with its incidence and mortality rates rising each year. Therefore, finding new, safe, and effective alternative therapies poses a significant research challenge in this field. Programmed cell death refers to the process by which cells actively self-destruct in response to specific stimuli, regulated by genetic mechanisms. Modern research indicates that dysregulation of programmed cell death is widespread in the occurrence and progression of lung cancer, allowing cancer cells to evade death while continuing to proliferate and metastasize. Thus, inducing the death of lung cancer cells can be considered a novel therapeutic strategy for treating the disease. In recent years, research on traditional Chinese medicine(TCM) in the field of oncology has gained widespread attention, becoming a focal point. An increasing number of studies have demonstrated that TCM can inhibit the progression of lung cancer and exert anti-cancer effects by inducing apoptosis, necroptosis, pyroptosis, autophagy, and ferroptosis. This paper provided a comprehensive review of the molecular mechanisms of programmed cell death in lung cancer, along with the potential mechanisms and research advancements related to the regulation of these processes by TCM, so as to establish a theoretical foundation and direction for future basic and clinical research on lung cancer.
Humans
;
Lung Neoplasms/pathology*
;
Medicine, Chinese Traditional
;
Drugs, Chinese Herbal/therapeutic use*
;
Apoptosis/drug effects*
;
Animals
;
Autophagy/drug effects*
8.Current situation of medicinal animal breeding and research progress in sustainable utilization of resources.
Cheng-Cai ZHANG ; Jia WANG ; Yu-Jie ZHOU ; Xiao-Yu DAI ; Xiu-Fu WAN ; Chuan-Zhi KANG ; De-Hua WU ; Jia-Hui SUN ; Sheng WANG ; Lan-Ping GUO
China Journal of Chinese Materia Medica 2025;50(16):4397-4406
Traditional Chinese medicine(TCM) is the pillar for the development of motherland medicine, and animal medicine has a long history of application in China, characterized by wide resources, strong activity, definite efficacy, and great benefits. It has significant potential and important status in the consumption market of raw materials of TCM. In the context of global climate change, farming system alterations, and low renewability, the depletion of wild medicinal animal resources has accelerated. Accordingly, the conservation and sustainable utilization of wild resources of animal medicinal materials has become a problem that garners increasing attention and urgently needs to be solved. This paper summarizes the current situation of domestic and foreign medicinal animal breeding and research progress in industrial application in recent years and points out the issues related to standardized breeding, germplasm selection and breeding, and quality evaluation standards for medicinal animals. Furthermore, this paper discusses standardized breeding, quality standards, resource protection and utilization, and the search for alternative resources for rare and endangered medicinal animals. It proposes that researchers should systematically carry out in-depth basic research on animal medicine, improve the breeding scale and level of medicinal animals, employ modern technology to enhance the quality standards of medicinal materials, and strengthen the research and development of alternative resources. This approach aims to effectively address the relationship between protection and utilization and make a significant contribution to the sustainable development of medicinal animal resources and the animal-based Chinese medicinal material industry.
Animals
;
Breeding
;
China
;
Medicine, Chinese Traditional
;
Conservation of Natural Resources
9.Expert consensus on digital restoration of complete dentures.
Yue FENG ; Zhihong FENG ; Jing LI ; Jihua CHEN ; Haiyang YU ; Xinquan JIANG ; Yongsheng ZHOU ; Yumei ZHANG ; Cui HUANG ; Baiping FU ; Yan WANG ; Hui CHENG ; Jianfeng MA ; Qingsong JIANG ; Hongbing LIAO ; Chufan MA ; Weicai LIU ; Guofeng WU ; Sheng YANG ; Zhe WU ; Shizhu BAI ; Ming FANG ; Yan DONG ; Jiang WU ; Lin NIU ; Ling ZHANG ; Fu WANG ; Lina NIU
International Journal of Oral Science 2025;17(1):58-58
Digital technologies have become an integral part of complete denture restoration. With advancement in computer-aided design and computer-aided manufacturing (CAD/CAM), tools such as intraoral scanning, facial scanning, 3D printing, and numerical control machining are reshaping the workflow of complete denture restoration. Unlike conventional methods that rely heavily on clinical experience and manual techniques, digital technologies offer greater precision, predictability, and efficacy. They also streamline the process by reducing the number of patient visits and improving overall comfort. Despite these improvements, the clinical application of digital complete denture restoration still faces challenges that require further standardization. The major issues include appropriate case selection, establishing consistent digital workflows, and evaluating long-term outcomes. To address these challenges and provide clinical guidance for practitioners, this expert consensus outlines the principles, advantages, and limitations of digital complete denture technology. The aim of this review was to offer practical recommendations on indications, clinical procedures and precautions, evaluation metrics, and outcome assessment to support digital restoration of complete denture in clinical practice.
Humans
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Denture, Complete
;
Computer-Aided Design
;
Denture Design/methods*
;
Consensus
;
Printing, Three-Dimensional
10.Outcomes of identifying enlarged vestibular aqueduct (Mondini malformation) related gene mutation in Mongolian people
Jargalkhuu E ; Tserendulam B ; Maralgoo J ; Zaya M ; Enkhtuya B ; Ulzii B ; Ynjinlhkam E ; Chuluun-Erdene Ts ; Chen-Chi Wu ; Cheng-Yu Tsai ; Yin-Hung Lin ; Yi-Hsin Lin ; Yen-Hui Chan ; Chuan-Jen Hsu ; Wei-Chung Hsu ; Pei-Lung Chen
Mongolian Journal of Health Sciences 2025;87(3):8-15
Background:
Hearing loss (HL) is one of the most common sensory disorders,
affecting over 5-8% of the world's population. Approximately half of HL cases are
attributed to genetic factors. In hereditary deafness, about 75-80% is inherited
through autosomal recessive inheritance, and common pathogenic genes include
GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading
cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged
vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646).
DFNB4 is characterized by sensorineural hearing loss combined with EVA or less
common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to
thyroid goiter. Currently, it is known that EVA is associated with variants in the
SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant
mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and
c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G
in Han Taiwanese and Han Chinese. On the other hand, there has been no study
of hearing loss related to SLC26A4 gene variants among Mongolians, which is the
basis of our research.
Aim:
We aimed to identify the characteristics of the SLC26A4 gene variants in
Mongolian people with Enlarged vestibular aqueduct and Mondini malformation.
Materials and Methods:
In 2022-2024, We included 13 people with hearing loss
and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea
with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National
Taiwan University Hospital.
Results:
Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic
SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19%
(5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8%
(2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C
(p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years
old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4:
c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing
loss.
Conclusions
1. 26 variants of bi-allelic SLC26A4 gene mutation were detected
in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was
the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A
(p.V239D) were detected.
2. Our study shows that whole-exome sequencing (WES) can identify gene
mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

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