1.Study on the effect and mechanism of Qiwei dongqingye powder against bronchial asthma based on transcriptomics
Jiacheng JIN ; Wenyan CHEN ; Xin LI ; Qing XU ; Hangyu WANG ; Ke ZHANG ; Pinghua SUN ; Jinhui WANG
China Pharmacy 2026;37(5):595-601
OBJECTIVE To investigate the therapeutic effect and mechanism of Qiwei dongqingye powder (QDP) on bronchial asthma in mice. METHODS The mice were divided into blank group (normal saline), model group (normal saline), dexamethasone group (2 mg/kg), and QDP low-, medium-, and high-dose groups (200, 400, 800 mg/kg), with 14 mice in each group. Except for the blank group, mice in all other groups were given ovalbumin via intraperitoneal injection followed by aerosol inhalation to induce a bronchial asthma model. During the modeling process, mice in each group were administered corresponding drug solutions or normal saline intragastrically/intraperitoneally. After the last medication, the number of cells in the bronchoalveolar lavage fluid (BALF) of the mice was observed and counted; the pathological changes of the bronchus and lung tissue were observed; the levels of malondialdehyde (MDA), nitric oxide (NO), total superoxide dismutase (T-SOD), and glutathione peroxidase (GSH-Px) in the lung tissue of the mice were determined, and the level of interleukin-17 (IL-17) in the BALF and serum was determined. Transcriptomics was employed to predict and validate the mechanism of action of QDP against bronchial asthma. RESULTS Compared with the model group, the total cell count, neutrophil count, lymphocyte count, and macrophage counts in the BALF of the QDP high-dose group were all significantly reduced ( P <0.05); the levels of MDA and NO in the lung tissue, and the levels of IL-17 in the BALF and serum were all decreased significantly ( P <0.05); the levels of T-SOD and GSH-Px were significantly increased ( P <0.05); the arrangement of lung tissue cells tended to normalize, with reduced infiltration of inflammatory cells and decreased exfoliation of bronchial simple columnar epithelial cells. The transcriptomic results revealed that the differentially expressed genes were B-cell receptor signaling pathway, nuclear factor κB (NF-κB) signaling pathway, ferroptosis signaling pathway, and others. Further validation revealed that, compared with the model group, the expression levels of NF-κB p65 and chemokine ligand 20, as well as the phosphorylation level of NF-κB inhibitor protein α, were significantly decreased in the lung tissues of the mice in all QDP groups ( P <0.05). Conversely, the protein expression of nuclear factor erythroid 2-related factor 2 (Nrf2) and heme oxygenase 1 (HO-1) were significantly increased ( P <0.05). CONCLUSIONS QDP can effectively alleviate bronchial asthma by inhibiting the NF-κB signaling pathway, activating the Nrf2/HO-1 signaling pathway, regulating oxidative stress, and reducing inflammatory responses.
2.In Vitro Anti-psoriatic Effect of Kangfuxin Liquid via Inhibiting Cell Proliferation and Migration Ability and Blocking JAK3/STAT3 Signaling Pathway
Shuai LI ; Xuan LIU ; Wenyan TANG ; Zhenqi WU ; Chunhui CHEN ; Dadan QIU ; Yi XU ; Chenggui ZHANG ; Jianquan ZHU ; Jiali ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):123-133
ObjectiveThis paper aims to explore the in vitro anti-psoriasis activity and potential mechanism of Kangfuxin liquid (KFX liquid), providing experimental evidence for the anti-psoriasis effect of KFX liquid. MethodsFirstly, the uninduced human immortalized keratinocyte cells (HaCaT cells) were divided into seven groups, namely the control group and KFX liquid groups with different doses (5, 10, 20, 40, 80, 160 g·L-1). After being treated with different concentrations of KFX liquid, the effect of KFX liquid on the normal cell proliferation was detected by using the cell counting kit-8 (CCK-8) method. Secondly, the uninduced HaCaT cells were divided into six groups, namely the control group and recombinant human interleukin-7A (rh-IL-7A) groups with different doses (5, 10, 50, 100, 120 g·L-1). After being treated with different concentrations of recombinant human interleukin-17A (rh IL-17A) liquid, the effect of rh IL-17A on cell proliferation was detected. The optimal induction concentration was screened. Then, normal HaCaT cells were divided into a control group and KFX liquid groups with different doses (5, 10, 20, 40, 80, 160 g·L-1). Except for the control group, the other groups established psoriasis cell models with the optimal induction concentration of rh IL-17A. After being treated with different concentrations of KFX liquid, the effects of KFX liquid on the psoriasis-like HaCaT cell proliferation were investigated. Finally, the uninduced HaCaT cells were divided into six groups, namely the control group, rh IL-17A group, methotrexate (MTX) group, and KFX liquid groups with different doses (20, 40, 80 g·L-1). Except for the control group, the other groups used the optimal induction concentration of rh IL-17A to establish psoriasis cell models. After being treated with different drugs, the cell migration levels were detected through scratch assays, and real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect the relative mRNA expression levels of Ki-67 antigen (Ki67), S100 calcium-binding protein A7 (S100A7), S100 calcium-binding protein A8 (S100A8), and S100 calcium-binding protein A9 (S100A9), thereby comprehensively evaluating the in vitro anti-psoriasis activity of KFX liquid. By detecting the relative mRNA expression levels of interleukin-1β (IL-1β), interleukin-6 (IL-6), and chemokine-20 (CXCL-20) inflammatory-related factors in psoriasis-like HaCaT cells and the protein expression levels of Janus kinase 3 (JAK3), phosphorylated Janus kinase 3 (p-JAK3), signal transducer and activator of transcription 3 (STAT3), and phosphorylated signal transducer and activator of transcription 3 (p-STAT3), the mechanism was explored. ResultsCompared with that of control group, when treated with 80 g·L-1 KFX liquid for 72 h (P<0.05) and at different times with 160 g·L-1 KFX liquid, the HaCaT cell proliferation activity was significantly affected (P<0.01), while the other concentrations of KFX liquid had no significant differences in cell morphology and cell proliferation activity at different times, indicating that the KFX liquid is relatively safe for HaCaT cells and has no obvious toxic side effects. Compared with that of control group, when treated with different concentrations of rh IL-17A for 24 h, the HaCaT cell proliferation activity was significantly enhanced, and the cell activity was the strongest when the concentration was 100 μg·L-1 (P<0.05), with a density close to 100% and intact cell morphology, indicating that 100 μg·L-1 is the optimal concentration for inducing HaCaT cell proliferation. The results of the KFX liquid treatment on rh IL-17A-induced psoriasis-like cells show that the KFX liquid not only effectively inhibits the rh IL-17A-induced psoriasis-like HaCaT cell proliferation activity (P<0.01), but also significantly reduces the migration ability of rh IL-17A-induced psoriasis-like HaCaT cells (P<0.01), and the relative mRNA expression levels of Ki67, S100A7, S100A8, and S100A9 (P<0.01). Moreover, the KFX liquid can significantly reduce the relative mRNA expression levels of IL-1β, IL-6, and CXCL-20 in rh IL-17A-induced psoriasis-like cells (P<0.01), and significantly inhibit the phosphorylation levels of JAK3 and STAT3 proteins (P<0.05, P<0.01). ConclusionThe KFX liquid has no obvious toxicity to uninduced HaCaT cells. It can inhibit rh IL-17A-induced psoriasis-like HaCaT cell proliferation, reduce the cell migration ability, and has good in vitro anti-psoriasis activity. Its action mechanism may be related to downregulating the expression levels of inflammation-related cytokines in the JAK3/STAT3 signaling pathway and inhibiting the phosphorylation levels of JAK3 and STAT3 proteins.
3.In Vitro Anti-psoriatic Effect of Kangfuxin Liquid via Inhibiting Cell Proliferation and Migration Ability and Blocking JAK3/STAT3 Signaling Pathway
Shuai LI ; Xuan LIU ; Wenyan TANG ; Zhenqi WU ; Chunhui CHEN ; Dadan QIU ; Yi XU ; Chenggui ZHANG ; Jianquan ZHU ; Jiali ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):123-133
ObjectiveThis paper aims to explore the in vitro anti-psoriasis activity and potential mechanism of Kangfuxin liquid (KFX liquid), providing experimental evidence for the anti-psoriasis effect of KFX liquid. MethodsFirstly, the uninduced human immortalized keratinocyte cells (HaCaT cells) were divided into seven groups, namely the control group and KFX liquid groups with different doses (5, 10, 20, 40, 80, 160 g·L-1). After being treated with different concentrations of KFX liquid, the effect of KFX liquid on the normal cell proliferation was detected by using the cell counting kit-8 (CCK-8) method. Secondly, the uninduced HaCaT cells were divided into six groups, namely the control group and recombinant human interleukin-7A (rh-IL-7A) groups with different doses (5, 10, 50, 100, 120 g·L-1). After being treated with different concentrations of recombinant human interleukin-17A (rh IL-17A) liquid, the effect of rh IL-17A on cell proliferation was detected. The optimal induction concentration was screened. Then, normal HaCaT cells were divided into a control group and KFX liquid groups with different doses (5, 10, 20, 40, 80, 160 g·L-1). Except for the control group, the other groups established psoriasis cell models with the optimal induction concentration of rh IL-17A. After being treated with different concentrations of KFX liquid, the effects of KFX liquid on the psoriasis-like HaCaT cell proliferation were investigated. Finally, the uninduced HaCaT cells were divided into six groups, namely the control group, rh IL-17A group, methotrexate (MTX) group, and KFX liquid groups with different doses (20, 40, 80 g·L-1). Except for the control group, the other groups used the optimal induction concentration of rh IL-17A to establish psoriasis cell models. After being treated with different drugs, the cell migration levels were detected through scratch assays, and real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect the relative mRNA expression levels of Ki-67 antigen (Ki67), S100 calcium-binding protein A7 (S100A7), S100 calcium-binding protein A8 (S100A8), and S100 calcium-binding protein A9 (S100A9), thereby comprehensively evaluating the in vitro anti-psoriasis activity of KFX liquid. By detecting the relative mRNA expression levels of interleukin-1β (IL-1β), interleukin-6 (IL-6), and chemokine-20 (CXCL-20) inflammatory-related factors in psoriasis-like HaCaT cells and the protein expression levels of Janus kinase 3 (JAK3), phosphorylated Janus kinase 3 (p-JAK3), signal transducer and activator of transcription 3 (STAT3), and phosphorylated signal transducer and activator of transcription 3 (p-STAT3), the mechanism was explored. ResultsCompared with that of control group, when treated with 80 g·L-1 KFX liquid for 72 h (P<0.05) and at different times with 160 g·L-1 KFX liquid, the HaCaT cell proliferation activity was significantly affected (P<0.01), while the other concentrations of KFX liquid had no significant differences in cell morphology and cell proliferation activity at different times, indicating that the KFX liquid is relatively safe for HaCaT cells and has no obvious toxic side effects. Compared with that of control group, when treated with different concentrations of rh IL-17A for 24 h, the HaCaT cell proliferation activity was significantly enhanced, and the cell activity was the strongest when the concentration was 100 μg·L-1 (P<0.05), with a density close to 100% and intact cell morphology, indicating that 100 μg·L-1 is the optimal concentration for inducing HaCaT cell proliferation. The results of the KFX liquid treatment on rh IL-17A-induced psoriasis-like cells show that the KFX liquid not only effectively inhibits the rh IL-17A-induced psoriasis-like HaCaT cell proliferation activity (P<0.01), but also significantly reduces the migration ability of rh IL-17A-induced psoriasis-like HaCaT cells (P<0.01), and the relative mRNA expression levels of Ki67, S100A7, S100A8, and S100A9 (P<0.01). Moreover, the KFX liquid can significantly reduce the relative mRNA expression levels of IL-1β, IL-6, and CXCL-20 in rh IL-17A-induced psoriasis-like cells (P<0.01), and significantly inhibit the phosphorylation levels of JAK3 and STAT3 proteins (P<0.05, P<0.01). ConclusionThe KFX liquid has no obvious toxicity to uninduced HaCaT cells. It can inhibit rh IL-17A-induced psoriasis-like HaCaT cell proliferation, reduce the cell migration ability, and has good in vitro anti-psoriasis activity. Its action mechanism may be related to downregulating the expression levels of inflammation-related cytokines in the JAK3/STAT3 signaling pathway and inhibiting the phosphorylation levels of JAK3 and STAT3 proteins.
4.Effects of inflammation on serum hepcidin and iron metabolism related parameters in patients with type 2 diabetes mellitus:a meta-analysis
Xiaolong WEN ; Xiquan WENG ; Yao FENG ; Wenyan CAO ; Yuqian LIU ; Haitao WANG ; Xinmin CHEN
Chinese Journal of Tissue Engineering Research 2026;30(5):1294-1301
OBJECTIVE:Disorders in iron metabolism increase the risk of type 2 diabetes mellitus.Hepcidin play an important role in maintaining iron homeostasis in the body,but its level increases with increased inflammation.Changes in hepcidin and iron homeostasis and the extent of their association with inflammation in people with and without type 2 diabetes mellitus are unknown.Meta-analysis was used to evaluate the effect of inflammation on serum hepcidin and iron metabolism related parameters in patients with type 2 diabetes mellitus.METHODS:CNKI,PubMed,Web of Science and EBSCOhost databases were searched by computer to collect observational studies related to inflammatory index and hepcidin in patients with type 2 diabetes mellitus.The search time was from September 1,2000 to September 30,2024.Three researchers independently screened the literature,extracted data and evaluated the quality of the included literature.Meta-analysis was performed by Review Manager 5.3,Stata 17.0 and GraphPad Prism 8.0.2 software.RESULTS:A total of 15 articles(17 studies)involving 3 159 participants,including 1 357 patients with type 2 diabetes mellitus,were included.Meta-analysis results showed that compared with the control group,patients with type 2 diabetes mellitus had higher levels of serum hepcidin[standardized mean difference(SMD)=0.35,95%confidence interval(CI)(0.05,0.65),P<0.05],serum ferritin(SMD=0.49,95%CI(0.21,0.78),P<0.01)and serum transferrin(SMD=0.19,95%CI(0.00,0.37),P<0.05).Subgroup analysis results indicated that inflammation had a significant effect on serum hepcidin(SMD=0.76,95%CI(0.17,1.34),P<0.05)and serum ferritin(SMD=0.77,95%CI(0.06,1.47),P<0.05)in patients with type 2 diabetes mellitus.CONCLUSION:Hepcidin concentration is positively correlated with type 2 diabetes mellitus.Inflammation is one of the risk factors of type 2 diabetes mellitus.Early prevention of inflammation has certain significance in preventing iron metabolism disorder in patients with type 2 diabetes mellitus.
5.Effects of inflammation on serum hepcidin and iron metabolism related parameters in patients with type 2 diabetes mellitus:a meta-analysis
Xiaolong WEN ; Xiquan WENG ; Yao FENG ; Wenyan CAO ; Yuqian LIU ; Haitao WANG ; Xinmin CHEN
Chinese Journal of Tissue Engineering Research 2026;30(5):1294-1301
OBJECTIVE:Disorders in iron metabolism increase the risk of type 2 diabetes mellitus.Hepcidin play an important role in maintaining iron homeostasis in the body,but its level increases with increased inflammation.Changes in hepcidin and iron homeostasis and the extent of their association with inflammation in people with and without type 2 diabetes mellitus are unknown.Meta-analysis was used to evaluate the effect of inflammation on serum hepcidin and iron metabolism related parameters in patients with type 2 diabetes mellitus.METHODS:CNKI,PubMed,Web of Science and EBSCOhost databases were searched by computer to collect observational studies related to inflammatory index and hepcidin in patients with type 2 diabetes mellitus.The search time was from September 1,2000 to September 30,2024.Three researchers independently screened the literature,extracted data and evaluated the quality of the included literature.Meta-analysis was performed by Review Manager 5.3,Stata 17.0 and GraphPad Prism 8.0.2 software.RESULTS:A total of 15 articles(17 studies)involving 3 159 participants,including 1 357 patients with type 2 diabetes mellitus,were included.Meta-analysis results showed that compared with the control group,patients with type 2 diabetes mellitus had higher levels of serum hepcidin[standardized mean difference(SMD)=0.35,95%confidence interval(CI)(0.05,0.65),P<0.05],serum ferritin(SMD=0.49,95%CI(0.21,0.78),P<0.01)and serum transferrin(SMD=0.19,95%CI(0.00,0.37),P<0.05).Subgroup analysis results indicated that inflammation had a significant effect on serum hepcidin(SMD=0.76,95%CI(0.17,1.34),P<0.05)and serum ferritin(SMD=0.77,95%CI(0.06,1.47),P<0.05)in patients with type 2 diabetes mellitus.CONCLUSION:Hepcidin concentration is positively correlated with type 2 diabetes mellitus.Inflammation is one of the risk factors of type 2 diabetes mellitus.Early prevention of inflammation has certain significance in preventing iron metabolism disorder in patients with type 2 diabetes mellitus.
6.Analysis of risk factors for allogeneic blood transfusion and construction of a prediction model in patients with ovarian cancer undergoing cytoreductive surgery
Jia CAO ; Wenyan CHEN ; Panpan MA ; Jin ZHAO ; Hongyue TANG ; Jianhui LIU ; Ruili GENG
Chinese Journal of Blood Transfusion 2026;39(8):1026-1032
Objective: To explore the independent risk factors of allogeneic blood transfusion during perioperative period of cytoreductive surgery in patients with ovarian cancer, and to construct a predictive model to facilitate clinical risk assessment and optimize perioperative blood management. Methods: Clinical data of 156 patients who underwent cytoreductive surgery for ovarian cancer in our hospital from January 2020 to December 2025 were retrospectively collected. The patients were divided into transfusion group (n=51) and non-transfusion group (n=105) according to whether they received allogeneic blood transfusion during perioperative period. The 1∶1 propensity score matching (PSM) was used to correct the confounding factors. Independent sample t test or Mann-Whitney U test was used for measurement data, and chisquare test was used for enumeration data. Variables with P<0.05 in univariate analysis were included in binary logistic regression for multivariate analysis to determine independent risk factors. A nomogram model for perioperative allogeneic blood transfusion risk prediction was constructed based on independent risk factors. Bootstrap method (100 samples) was used for internal calibration verification. ROC curve was used to evaluate the discrimination efficiency, and decision curve analysis (DCA) was used to evaluate the clinical net benefit of the model. Results: After propensity matching, the baseline data of the two groups were balanced and comparable. Multivariate logistic regression analysis showed that preoperative prothrombin time (PT) (OR=2.666, 95%CI 1.249~5.693, P=0.011), preoperative hemoglobin (Hb) (OR=0.953, 95%CI 0.923~0.984, P=0.003), intraoperative blood loss (OR=1.004, 95%CI 1.001-1.006, P=0.004), preoperative anemia grade (OR=3.052, 95%CI 1.007-9.252, P=0.049) were independent influencing factors of perioperative allogeneic blood transfusion. The nomogram model based on the above four factors was significant (LR χ
=58.617, P<0.001), and the internal calibration curve showed that the predicted probability of the model was in good agreement with the actual probability (mean absolute error=0.042). The area under the ROC curve (AUC) was 0.890, indicating good discrimination efficiency. DCA showed that the clinical net benefit of the model was better than that of the unified transfusion/non-transfusion strategy in the 0-0.45 risk threshold range. Conclusion: Intraoperative blood loss, preoperative PT, preoperative Hb and preoperative anemia grade are independent risk factors for perioperative allogeneic blood transfusion in patients undergoing cytoreductive surgery for ovarian cancer. The nomogram model based on the above factors has good predictive efficacy and clinical hierarchical decision-making value, which can provide reference for clinical implementation of individualized blood management for high-risk patients and reduction of unnecessary blood transfusion rate.
7.Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis
Jian LIU ; Hongchun ZHANG ; Chengxiang WANG ; Hongsheng CUI ; Xia CUI ; Shunan ZHANG ; Daowen YANG ; Cuiling FENG ; Yubo GUO ; Zengtao SUN ; Huiyong ZHANG ; Guangxi LI ; Qing MIAO ; Sumei WANG ; Liqing SHI ; Hongjun YANG ; Ting LIU ; Fangbo ZHANG ; Sheng CHEN ; Wei CHEN ; Hai WANG ; Lin LIN ; Nini QU ; Lei WU ; Dengshan WU ; Yafeng LIU ; Wenyan ZHANG ; Yueying ZHANG ; Yongfen FAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(4):182-188
The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis (GS/CACM 337-2023) was released by the China Association of Chinese Medicine on December 13th, 2023. This expert consensus was developed by experts in methodology, pharmacy, and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine (CACM) and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine (pulmonary diseases) and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung, acute bronchitis, and acute attack of chronic bronchitis from the aspects of applicable populations, efficacy evaluation, usage, dosage, drug combination, and safety. It is expected to guide the rational drug use in medical and health institutions, give full play to the unique value of Qinbaohong Zhike oral liquid, and vigorously promote the inheritance and innovation of Chinese patent medicines.
8.Invasion and Metastasis in Colorectal Cancer Mediated by Traditional Chinese Medicine via Cell Signaling Pathway: A Review
Min GUO ; Wenyan YU ; Naicheng ZHU ; Yuwei YAN ; Chen ZHONG ; Xiudan CHEN ; Nanxin LI ; Guojuan WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(4):323-330
Colorectal cancer is a common and malignant tumor in the digestive tract. Invasion and metastasis of cancer cells are key factors leading to the high mortality rate and postoperative recurrence of colorectal cancer. Chemotherapy is the main treatment method for preventing recurrence of this disease. However, there are many toxic side effects in clinical application, which seriously hinder the treatment process. Therefore, it is imperative to search for efficient and low-toxicity drugs. Traditional Chinese medicine (TCM) has a long history of treating colorectal cancer and offers advantages such as safety, effectiveness, multiple targets, multiple pathways and minimal toxic side effects, which have made it increasingly popular worldwide. According to TCM, the pathogenesis of colorectal cancer is rooted in both deficiency and excess. TCM formulas mainly focus on tonifying the body to address the invasion and metastasis of colorectal cancer, such as Jianpi compound, Jianpi Xiaoai decoction, and Bushen Jiedu Sanjie decoction. TCM monomers, such as emodin, berberine, and tanshinone, mainly focus on clearing heat and removing toxin, circulating blood and transforming stasis, and resolving swelling and dispersing nodules. Signaling pathways play a crucial role for analyzing invasion and metastasis, and research has shown that pathways such as Wnt/β-catenin, phosphatidylinositol-3 kinase/protein kinase (PI3K/Akt), Janus kinase 2/signal transduction and transcription activating factor 3 (JAK2/STAT3), nuclear factors-κB (NF-κB), vascular endothelial growth factor (VEGF) play important roles in the invasion and metastasis of colorectal cancer. The invasion and metastasis of colorectal cancer can be inhibited via regulating the key proteins and related factors in these pathways. In this review, we searched various literature databases, such as PubMed, China National Knowledge Infrastructure (CNKI), and VIP, using keywords such as "colorectal cancer", "signaling pathway", "invasion and metastasis", and "traditional Chinese medicine", to summarize and analyze the relevant pathways of TCM compounds and monomers against invasion and metastasis of colorectal cancer published in the past five years. The review aims to provide new insights and references for in-depth research on the therapy for invasion and metastasis of colorectal cancer and new drug development.
9.Expert consensus on prognostic evaluation of cochlear implantation in hereditary hearing loss.
Xinyu SHI ; Xianbao CAO ; Renjie CHAI ; Suijun CHEN ; Juan FENG ; Ningyu FENG ; Xia GAO ; Lulu GUO ; Yuhe LIU ; Ling LU ; Lingyun MEI ; Xiaoyun QIAN ; Dongdong REN ; Haibo SHI ; Duoduo TAO ; Qin WANG ; Zhaoyan WANG ; Shuo WANG ; Wei WANG ; Ming XIA ; Hao XIONG ; Baicheng XU ; Kai XU ; Lei XU ; Hua YANG ; Jun YANG ; Pingli YANG ; Wei YUAN ; Dingjun ZHA ; Chunming ZHANG ; Hongzheng ZHANG ; Juan ZHANG ; Tianhong ZHANG ; Wenqi ZUO ; Wenyan LI ; Yongyi YUAN ; Jie ZHANG ; Yu ZHAO ; Fang ZHENG ; Yu SUN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):798-808
Hearing loss is the most prevalent disabling disease. Cochlear implantation(CI) serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system(Favorable, Marginal, Poor). The consensus focuses on common hereditary non-syndromic hearing loss(such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1) and syndromic hereditary hearing loss(such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome), which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans
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Cochlear Implantation
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Prognosis
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Hearing Loss/surgery*
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Consensus
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Connexin 26
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Mutation
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Sulfate Transporters
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Connexins/genetics*
10.Diversity of the Duffy blood group gene among ethnic Hui population in Henan Province
Wenyan CUI ; Hecai YANG ; Cunquan KONG ; Yongkui KONG ; Yunfei YOU ; Yujing LIU ; Jinhua LIU ; Maocai CHEN ; Yulin ZHANG
Chinese Journal of Medical Genetics 2025;42(3):274-281
Objective:To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods:Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects. Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing. Distribution of the predicted phenotype and genotype frequency were determined, and the linkage between Duffy haplotypes and variation sites was analyzed. Genetic diversity, natural selection pressure, and population genetic characteristics were evaluated. This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University (Ethics No. 202223).Results:The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+ b-). Three novel SNPs in the FY*01 allele were identified, with a total frequency of 13.33%, among which FY*01.NEW1 (c.199C>T) was the most common. A total of 32 variant sites were identified, with 28 located in intronic regions, indicating that genetic diversity was primarily concentrated in introns. The Duffy blood group gene was under negative selection pressure ( dN/ dS < 1, Tajima′s D, Fu and Li′s D*& F* significantly deviated from 0), suggesting overall conservation. The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui, Xinjiang Kazakh, Inner Mongolia Mongolian, and Yuncheng Han populations, but significantly different from those of most Han and other ethnic groups ( P<0.05). Conclusion:This study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis, genetic diversity study, and novel mutation identification.

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