1.Effectiveness of the integrated schistosomiasis control programme in Wuhan City from 2005 to 2023
Shuai WANG ; Huatang LUO ; Yang LI ; Hao WANG ; Cong LIU ; Yuelin XIONG ; Jiajing ZHANG ; Wen ZHU
Chinese Journal of Schistosomiasis Control 2025;37(2):176-183
Objective To evaluate the effectiveness of the integrated schistosomiasis control programme in Wuhan City from 2005 to 2023, so as to provide insights into precision control and elimination of schistosomiasis. Methods The integrated measures for schistosomiasis control implemented by health, agriculture, water resources, and forestry departments of Wuhan City, and the epidemiological data of schistosomiasis in Wuhan City were collected from 2005 to 2023, and the prevalence of human schistosomiasis, prevalence of Schistosoma japonicum infections in humans and bovines, areas of S. japonicum-infected snail habitats, areas of snail habitats in inner embankments, and actual areas of snail habitats were retrieved. In addition, the trends in prevalence of schistosomiasis in humans and livestock and snail status were evaluated in Wuhan City from 2005 to 2023 using Mann-Kendall test and a Joinpoint regression model. Results Mann-Kendall test revealed a tendency towards a decline in the prevalence of human schistosomiasis (Z = -4.41, P < 0.01), prevalence of S. japonicum infections in humans (Z = -4.89, P < 0.01) and bovines (Z = -4.50, P < 0.01), areas of S. japonicum-infected snail habitats (Z = -3.91, P < 0.01), areas of snail habitats in inner embankments (Z = -2.28, P = 0.02), and actual areas of snail habitats (Z = -5.95, P < 0.01) in Wuhan City from 2005 to 2023. Joinpoint regression analysis showed an average annual reduction of 8.58% in the prevalence of human schistosomiasis in Wuhan City from 2005 to 2023 [average annual percent change (AAPC) = -8.58%, 95% confidence interval (CI): (-10.02%, -6.65%), P < 0.01], with two joinpoints in 2013 and 2016, respectively, and the tendency towards a decline showed statistical significance during the period from 2013 through 2016 [annual percent change (APC) = -34.41%, 95% CI: (-40.36%, -20.01%), P < 0.01]. The prevalence of S. japonicum human infections appeared an average annual reduction of 51.91% in Wuhan City from 2005 to 2023 [AAPC = -51.91%, 95% CI: (-58.12%, -44.25%), P < 0.01], with two joinpoints in 2014 and 2017, respectively, and the tendency towards a decline showed statistical significance during the period from 2014 through 2017 [APC = -98.17%, 95% CI: (-99.17%, -90.87%), P < 0.01]. The prevalence of S. japonicum infections in bovines appeared an average annual reduction of 53.12% in Wuhan City from 2005 to 2023 [AAPC = -53.12%, 95% CI: (-59.65%, -42.44%), P < 0.01], with two joinpoints in 2011 and 2014, respectively, and the tendency towards a decline showed statistical significance during the period from 2014 through 2017 [APC = -98.63%, 95% CI: (-99.44%, -90.93%), P < 0.01]. The areas of S. japonicum-infected snail habitats appeared an average annual reduction of 47.09% in Wuhan City from 2005 to 2023 [AAPC = -47.09%, 95% CI: (-52.92%, -38.26%), P < 0.01], with two joinpoints in 2011 and 2014, respectively, and the tendency towards a decline showed statistical significance during the period from 2011 through 2014 [APC = -97.27%, 95% CI: (-98.65%, -88.06%), P < 0.01]. The areas of snail habitats in inner embankments appeared an average annual reduction of 4.45% in Wuhan City from 2005 to 2023 [AAPC = -4.45%, 95% CI: (-5.18%, -3.82%), P < 0.01], with three joinpoints in 2011, 2015 and 2018, respectively, and statistical significance was seen in the tendency towards a decline during the period from 2005 through 2011 [APC = -16.38%, 95% CI: (-20.15%, -14.25%), P < 0.01]. In addition, the actual areas of snail habitats appeared an average annual reduction of 2.65% in Wuhan City from 2005 to 2023 [AAPC = -2.65%, 95% CI: (-2.89%, -2.40%), P < 0.01], with a joinpoint in 2013, and the tendency towards a decline showed statistical significance during the period from 2013 through 2023 [APC = -4.06%, 95% CI: (-4.66%, -3.58%), P < 0.01]. Conclusions The integrated schistosomiasis control programme achieved significant effectiveness in Wuhan City from 2005 to 2023, with a tendency towards a decline in morbidity due to schistosomiasis in humans and livestock and snail status. The integrated schistosomiasis control strategy with emphasis on management of the source of S. japonicum infections should continue to be implemented to consolidate the schistosomiasis control achievements and achieve the goal of schistosomiasis elimination in the city.
2.Application of Gas Chromatography Ion Mobility Spectrometry Technology Combined with Chemometric Methods in Identification of Foeniculi Fructus from Haiyuan Region
Xiurong TIAN ; Hao WANG ; Kejing PANG ; Penglong YU ; Xia LIU ; Mengyue SHEN ; Xianglin JIANG ; Yonghua LI ; Zhihong LI ; Hongqiong DING ; Qin YANG ; Xingying LI ; Qian XIONG ; Guochao WAN ; Yuexiang MA ; Zhenping LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):184-192
ObjectiveTo establish a geographical origin identification model for Foeniculi Fructus from Haiyuan, providing a new technical reference for the protection of Haiyuan's geo-authentic medicinal materials and its designation as a national geographical indication agricultural product. MethodsSamples of Foeniculi Fructus were collected from eight producing areas, including Minqin (Gansu), Bozhou (Anhui), Qingdao (Shandong), Dezhou (Shandong), Urumqi (Xinjiang), Nujiang (Yunnan), Gutuo (Inner Mongolia), and Haiyuan (Ningxia). Gas chromatography-ion mobility spectrometry (GC-IMS) was used to detect the volatile organic compounds (VOCs) in samples from these geographic origins. VOCs were qualitatively analyzed through dual matching with the National Institute of Standards and Technology (NIST) mass spectral database and the IMS drift time database. Using the Reporter module and Gallery Plot visualization tools within the LAV analytical platform, VOC fingerprint profiles characterizing geographic origins were constructed. A non-targeted analytical strategy was adopted, and 97 VOCs detected via GC-IMS were subjected to principal component analysis (PCA) and partial least squares discriminant analysis (PLS-DA) based on their differential distribution patterns to construct an origin identification model for Foeniculi Fructus from Haiyuan region. Key discriminative markers were screened using variable importance in projection (VIP) values greater than 1. ResultsA total of 97 VOCs were identified, including alcohols, aldehydes, ketones, esters, organic acids, terpenoids, ethers, alkenes, and benzenes. The PLS-DA model, based on VOCs data obtained by GC-IMS, effectively distinguished Foeniculi Fructus in Haiyuan region from those of other origins. During cross-validation, the model achieved a prediction parameter (Q2) of 0.976 and a goodness-of-fit parameter (R2) of 0.936, with no overfitting observed in permutation testing. Twelve key flavor markers with VIP > 1 were identified as characteristic indicators of Haiyuan origin. ConclusionA stable and highly predictive origin identification model for Foeniculi Fructus from Haiyuan was successfully established using GC-IMS technology, PLS-DA, and VIP-based marker screening. This model provides a novel technical strategy for accurately distinguishing Foeniculi Fructus in Haiyuan region from other regional varieties and offers new technical support for its protection as a geo-authentic medicinal material and a nationally designated geographical indication agricultural product in China.
3.Application of Gas Chromatography Ion Mobility Spectrometry Technology Combined with Chemometric Methods in Identification of Foeniculi Fructus from Haiyuan Region
Xiurong TIAN ; Hao WANG ; Kejing PANG ; Penglong YU ; Xia LIU ; Mengyue SHEN ; Xianglin JIANG ; Yonghua LI ; Zhihong LI ; Hongqiong DING ; Qin YANG ; Xingying LI ; Qian XIONG ; Guochao WAN ; Yuexiang MA ; Zhenping LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(17):184-192
ObjectiveTo establish a geographical origin identification model for Foeniculi Fructus from Haiyuan, providing a new technical reference for the protection of Haiyuan's geo-authentic medicinal materials and its designation as a national geographical indication agricultural product. MethodsSamples of Foeniculi Fructus were collected from eight producing areas, including Minqin (Gansu), Bozhou (Anhui), Qingdao (Shandong), Dezhou (Shandong), Urumqi (Xinjiang), Nujiang (Yunnan), Gutuo (Inner Mongolia), and Haiyuan (Ningxia). Gas chromatography-ion mobility spectrometry (GC-IMS) was used to detect the volatile organic compounds (VOCs) in samples from these geographic origins. VOCs were qualitatively analyzed through dual matching with the National Institute of Standards and Technology (NIST) mass spectral database and the IMS drift time database. Using the Reporter module and Gallery Plot visualization tools within the LAV analytical platform, VOC fingerprint profiles characterizing geographic origins were constructed. A non-targeted analytical strategy was adopted, and 97 VOCs detected via GC-IMS were subjected to principal component analysis (PCA) and partial least squares discriminant analysis (PLS-DA) based on their differential distribution patterns to construct an origin identification model for Foeniculi Fructus from Haiyuan region. Key discriminative markers were screened using variable importance in projection (VIP) values greater than 1. ResultsA total of 97 VOCs were identified, including alcohols, aldehydes, ketones, esters, organic acids, terpenoids, ethers, alkenes, and benzenes. The PLS-DA model, based on VOCs data obtained by GC-IMS, effectively distinguished Foeniculi Fructus in Haiyuan region from those of other origins. During cross-validation, the model achieved a prediction parameter (Q2) of 0.976 and a goodness-of-fit parameter (R2) of 0.936, with no overfitting observed in permutation testing. Twelve key flavor markers with VIP > 1 were identified as characteristic indicators of Haiyuan origin. ConclusionA stable and highly predictive origin identification model for Foeniculi Fructus from Haiyuan was successfully established using GC-IMS technology, PLS-DA, and VIP-based marker screening. This model provides a novel technical strategy for accurately distinguishing Foeniculi Fructus in Haiyuan region from other regional varieties and offers new technical support for its protection as a geo-authentic medicinal material and a nationally designated geographical indication agricultural product in China.
4.Effect and mechanism of LncRNA EFRL on homocysteine-induced atherosclerosis in macrophage efferocytosis.
Jiaqi YANG ; Zhenghao ZHANG ; Fang MA ; Tongtong XIA ; Honglin LIU ; Jiantuan XIONG ; Shengchao MA ; Yideng JIANG ; Yinju HAO
Chinese Journal of Cellular and Molecular Immunology 2025;41(7):577-584
Objective To investigate the effect and mechanism of Efferocytosis Relatived LncRNA (EFRL) on homocysteine-induced atherosclerosis in macrophage efferocytosis. Methods RAW264.7 cells were cultured in vitro, and the Control group (0 μmol/L Hcy) and Hcy intervention group (100 μmol/L Hcy) were set up. After GapmeR transfection of macrophages with Hcy intervention, EFRL knockdown negative control group (Hcy combined with LNA-NC) and EFRL knockdown group (Hcy combined with LNA-EFRL) were set up. High-throughput sequencing was applied for different expression of LncRNA MSTRG. 88917.16 (EFRL), UCSC was used to analyze its conservation, CPC and CPAT were used to analyze its ability to encode proteins, and GO and KEGG were used to analyze related biological functions. The localization of LncRNA EFRL in macrophages was analyzed by nucleoplasmic separation and RNA-FISH. Quantitative real-time PCR was used to detect the expression levels of LncRNA EFRL and its target gene SPAST in Hcy-treated macrophages. The apoptosis rate of Jurkat cells induced by UV was detected by flow cytometry. In vitro efferocytosis assay combined with immunofluorescence technique was used to analyze macrophage efferocytosis. ELISA was used to detect the levels of interleukin 1β(IL-1β) and IL-18. Results The new LncRNA MSTRG.88917.16 was identified and named EFRL(Efferocytosis Relatived LncRNA). UCSC, CPC and CPAT analyses showed that LncEFRL is highly conserved and does not have the ability to encode proteins. GO and KEGG analyses suggested that LncEFRL may be involved in macrophage efferocytosis. LncRNA EFRL was localized in the nucleus of macrophages as determined by nucleoplasmic separation and RNA-FISH. In comparison to the Control group, the expression levels of LncRNA EFRL and its target gene SPAST in the Hcy group were increased. In comparison to the Control group (0 min), the apoptosis rate of the experimental group (15, 30 min) Annexin V is more than 85%. Compared with Hcy combined with LNA-NC group, Hcy combined with LNA-EFRL group had enhanced macrophage efferocytosis and reduced levels of inflammatory factors. Compared with Hcy combined with LNA-NC group, the expression level of SPAST in Hcy combined with LNA-EFRL group was decreased. Conclusion Inhibition of EFRL expression can alleviate the process of Hcy inhibiting macrophage efferocytosis, and the mechanism is related to the regulation of the downstream target gene SPAST by EFRL.
RNA, Long Noncoding/physiology*
;
Animals
;
Homocysteine
;
Mice
;
Macrophages/drug effects*
;
Humans
;
RAW 264.7 Cells
;
Atherosclerosis/chemically induced*
;
Apoptosis/genetics*
;
Phagocytosis/genetics*
;
Jurkat Cells
;
Interleukin-1beta/genetics*
;
Efferocytosis
5.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
6.Relationships between Molecular Genetics and Clinical Features of Children with Acute Myeloid Leukemia.
Fei LONG ; Hao XIONG ; Li YANG ; Ming SUN ; Zhi CHEN ; Wen-Jie LU ; Shan-Shan QI ; Fang TAO ; Lin-Lin LUO ; Jing-Pei CHEN
Journal of Experimental Hematology 2025;33(1):69-74
OBJECTIVE:
To analyze the molecular genetic spectrum of children with acute myeloid leukemia (AML), and explore its correlation with clinical characteristics and prognosis.
METHODS:
The clinical and molecular genetic data of 116 children with newly diagnosed AML in Wuhan Children's Hospital from September 2015 to August 2022 were retrospectively analyzed. The Fisher's exact test was used to analyze the correlation of gene mutations with clinical features, and Kaplan-Meier curve was used to analyze the influences of gene mutations on the prognosis.
RESULTS:
NRAS (22%), KRAS (14.9%), and KIT (14.7%) mutations were the most common genetic abnormalities in 116 children with AML. Children with KIT, CEBPA and GATA2 mutations showed a higher median onset-age than those without mutations (all P < 0.05). Children with FLT3-ITD mutation exhibited a higher white blood cell count at initial diagnosis compared to those without mutations (P < 0.05). Children with ASXL2 mutation had lower platelet count and hemoglobin at initial diagnosis than those without mutations (both P < 0.05). KIT mutations were often co-occurred with t(8;21)(q22;q22). There was no significant relationship between gene mutation and minimal residual disease (MRD) remission rate after the first and second induction therapy (P >0.05). KIT and NRAS mutations were not associated with prognosis significantly (P >0.05). The overall survival (OS) rates of children with CEBPA and FLT3-ITD mutations were superior to those without mutations, but the differences were not statistically significant (P >0.05). The 3-year OS rate of 61 children treated by allogeneic hematopoietic stem cell transplantation was 89.8%, which was significantly higher than 55.2% of those only treated by chemotherapy (P < 0.001).
CONCLUSIONS
Gene mutations are common in children with AML, and next-generation sequencing can significantly improve the detection rate of gene mutations, which can guide the risk stratification therapy. In addition, FLT3-ITD and KIT mutations may no longer be poor prognostic factors.
Humans
;
Leukemia, Myeloid, Acute/genetics*
;
Mutation
;
Prognosis
;
Retrospective Studies
;
fms-Like Tyrosine Kinase 3/genetics*
;
Child
;
Proto-Oncogene Proteins c-kit/genetics*
;
Male
;
Female
;
CCAAT-Enhancer-Binding Proteins/genetics*
;
Membrane Proteins/genetics*
;
Child, Preschool
;
Adolescent
;
GATA2 Transcription Factor/genetics*
;
GTP Phosphohydrolases/genetics*
;
Proto-Oncogene Proteins p21(ras)/genetics*
7.Analysis of Risk Factors for Mortality of Children with Severe Aplastic Anemia after Allogeneic Hematopoietic Stem Cell Transplantation.
Yan CHEN ; Hao XIONG ; Zhi CHEN ; Na SONG ; Li YANG ; Fang TAO ; Li YANG ; Zhuo WANG ; Yu DU ; Ming SUN
Journal of Experimental Hematology 2025;33(3):886-891
OBJECTIVE:
To analyze the factors associated with mortality after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with severe aplastic anemia (SAA).
METHODS:
The clinical data of 90 children with SAA who received allo-HSCT in the Department of Hematology, Wuhan Children's Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from August 2016 to July 2023 were collected. The clinical features and causes of death were analyzed retrospectively. Cox proportional hazards model was used to screen the risk factors of death.
RESULTS:
Only 9 children died with a median time of 6.3(2.6, 8.3) months among the 90 children with SAA after allo-HSCT. Among the 5 deaths due to infection, 3 were pulmonary infection, including 2 cases of cytomegalovirus pneumonia. One case developed septic shock due to gastrointestinal infection. One case experienced graft failure, which was complicated by bloodstream infection, and developed septic shock. Three cases died of transplantation-associated thrombotic microangiopathy (TA-TMA). One case died of gastrointestinal graft-versus-host disease (GVHD). The results of multivariate analysis showed that post-transplant +60 d PLT≤30×109/L (HR=7.478, 95%CI : 1.177-47.527, P =0.033), aGVHD Ⅲ-Ⅳ (HR=7.991, 95%CI : 1.086-58.810, P =0.041), and TA-TMA occurrence (HR=13.699, 95%CI : 2.146-87.457, P =0.006) were independent risk factors for post-transplant mortality.
CONCLUSION
Allo-HSCT is an effective therapy for SAA in children. Post-transplant +60 d PLT≤30×109/L, aGVHD Ⅲ-Ⅳ, and TA-TMA occurrence are independently associated with post-transplant mortality, which may be helpful for early detection of potential high-risk children and optimization of clinical diagnostic and treatment strategies.
Humans
;
Anemia, Aplastic/therapy*
;
Hematopoietic Stem Cell Transplantation/adverse effects*
;
Risk Factors
;
Retrospective Studies
;
Child
;
Transplantation, Homologous
;
Male
;
Female
;
Graft vs Host Disease
;
Child, Preschool
;
Proportional Hazards Models
;
Adolescent
;
Infant
8.Clinical Analysis of Cutaneous Chronic Graft-Versus-Host Disease Post-Allogeneic Hematopoietic Stem Cell Transplantation in Childhood.
Yu-Xian WANG ; Hao XIONG ; Zhi CHEN ; Li YANG ; Fang TAO ; Yu DU ; Zhuo WANG ; Ming SUN ; Shan-Shan QI ; Lin-Lin LUO
Journal of Experimental Hematology 2025;33(5):1461-1467
OBJECTIVE:
To investigate the clinical features and risk factors associated with cutaneous chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children.
METHODS:
A retrospective analysis was conducted on the clinical data of children who underwent allo-HSCT in the Wuhan Children's Hospital from August 1, 2016, to December 31, 2023, and were regularly followed up for 1 year or more. The differences in clinical features between children with and without cutaneous cGVHD were compared, and the risk factors affecting the occurrence of cutaneous cGVHD were analyzed.
RESULTS:
During the study period, 296 children received allo-HSCT. Until December 31, 2024, follow-up showed that 20 children (6.8%) developed cutaneous cGVHD, which manifested as cutaneous lichenification, hyperpigmentation, keratosis pilaris, sclerotic changes, and hair or nail involvement. According to their skin lesion area and degree of grading, 5 cases were mild, 10 cases were moderate, and 5 cases were severe. Multivariate logistic regression analysis revealed that female donors and previous acute GVHD were risk factors for the development of cutaneous cGVHD after allo-HSCT. All 20 children were treated with glucocorticoid ± calcineurin inhibitors (tacrolimus/cyclosporine) as first-line therapeutic agents. Only 1 child improved after first-line treatment. The remaining 19 children treated with a second-line regimen of combination interventions based on individualized status, including 10 children who could not tolerate hormonotherapy or first-line treatment, and showed no significant improvement after 3 months, as well as 9 children with multi-organ cGVHD. After comprehensive second-line treatment, 17 children showed improvement in cutaneous symptoms. There were 3 deaths, including 1 due to primary disease recurrence and 2 due to pulmonary infections.
CONCLUSION
The skin is the first manifestation and most common organ involved in cGVHD in children. Cutaneous cGVHD severely affects the daily activities of transplanted children and requires prolonged immunosuppressive therapy, but has a favorable prognosis. First-line treatments for adults are not applicable to children who usually require a combination treatment with multiple drugs.
Humans
;
Graft vs Host Disease/etiology*
;
Hematopoietic Stem Cell Transplantation/adverse effects*
;
Retrospective Studies
;
Risk Factors
;
Female
;
Child
;
Skin Diseases/etiology*
;
Chronic Disease
;
Transplantation, Homologous
;
Male
;
Child, Preschool
;
Adolescent
10.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
;
Cochlear Implantation
;
Prognosis
;
Hearing Loss/surgery*
;
Consensus
;
Connexin 26
;
Mutation
;
Sulfate Transporters
;
Connexins/genetics*

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