1.Mechanism research progress of traditional Chinese medicine in the intervention of Parkinson’s disease by regulating the Nrf2/HO-1 signaling pathway
Jialin YAO ; Lufeng BAI ; Yunxiang GUAN ; Baicheng QIAN ; Baoliang WANG
China Pharmacy 2025;36(6):764-768
Parkinson’s disease (PD) is a common chronic neurodegenerative disease with movement disorders as the main clinical manifestation. The nuclear factor-erythroid 2-related factor 2 (Nrf2)/heme oxygenase-1 (HO-1) signaling pathway is closely associated with the occurrence and progression of PD. TCM flavonoid monomers (luteolin, rutin, etc.), alkaloids (camptothecin, sinomenine, and alkaloids extracted from Uncaria rhynchophylla), terpenes (tanshinone ⅡA, carvacrol, paeoniflorin), phenols (ellagic acid, rosmarinic acid), saponins (ginsenoside RK1), and traditional Chinese medicine compounds (Wuzi yanzong pill and PD formula-2) can resist oxidative stress damage, inhibit inflammatory responses and abnormal aggregation of α-synuclein, and regulate neurotrophic factors by activating the Nrf2/HO-1 signaling pathway, thereby alleviating dopaminergic neuronal damage.
2.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*
3.Prevalence Study of GJB2,SLC26A4 and mtDNA 12S rRNA1555A>G Mutations in Hui Ethnic Group Patients with Non-Syndromic Hearing Loss from Northwest China
Jianli MA ; Baicheng XU ; Panpan BIAN ; Xiaolong YANG ; Xiaowen LIU ; Qian LI ; Yiming ZHU ; Liang ZONG ; Yali ZHAO ; Yufen GUO
Journal of Audiology and Speech Pathology 2013;(5):451-455
Objective To investigate the prevalence of GJB2 ,SLC26A4 and mitochondrial DNA 12S rRNA m .1555A>G(mtDNA 1555A>G) mutations in Hui ethic group patients with nonsyndromic hearing loss (NSHL) from Northwest China .Methods A total of 420 peripheral blood samples were collected from unrelated Hui ethic group probands with NSHL in Northwest China .Amplified the target gene by polymerase chain reaction (PCR) af-ter extracting genomic DNA from whole blood .The mtDNA 1555A>G mutation was detected by PCR -Alw26I di-gestion ,then direct sequencing was used to the positive samples of mtDNA 1555A> G ,the coding region of GJB2 gene ,exon 8 and 19 of SLC26A4 gene .Results There were 11(2 .62% ) cases caused by mtDNA 1555A>G homo-zygous mutation in 420 patients with NSHL .There were 41(9 .76% ) cases including homozygote and compound het-erozygote ,caused by GJB2 gene mutation ,which was the most frequent deafness -related gene .The allel frequency of c .235delC accounted for 6 .90% ,as well as the most frequent(51 .33% ) mutational pattern in GJB2 gene .There were 20 patients(4 .76% ) were found carring two allel mutations in SLC26A4 gene .The allel frequency of c .919 -2A>G was 5 .0% ,accounting for a total of 68 .85% in all base alterations of SLC26A4 gene ,which was the major mutant form of SLC26A4 gene .Conclusion GJB2 gene is the most common deafness -gene in Hui ethnic group pa-tients with NSHL from Northwest China ,while c .235delC is the main mutant form ,and c .919-2A>G is the hot-spot mutation of SLC26A4 gene .Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis ,genetic counseling and therapy by associated testing of three frequent hearing loss genes .

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