1.The Current Status of Research on The Association Between TMEM43 Gene and Hearing Loss
Progress in Biochemistry and Biophysics 2025;52(2):269-278
		                        		
		                        			
		                        			Transmembrane proteins (TMEM) are a type of membrane protein. Most proteins in this family are located in the phospholipid bilayer of the cell membrane, while a smaller portion is found in the membranes of cellular organelles. Transmembrane protein 43 (TMEM43) is a member of the TMEM protein family and is encoded by the TMEM43 gene. This protein consists of 400 amino acids and has 4 transmembrane domains and 1 membrane-associated domain. TMEM43 is localized to various biological membranes within the cell, such as the cell membrane and nuclear membrane, where it forms transmembrane channels for various ions. Additionally, TMEM43 is expressed in many species, showing high genetic similarity, especially with the four transmembrane domains being highly conserved. Current studies on the TMEM43 gene are still in its early stages, mainly focusing on its association with arrhythmogenic right ventricular cardiomyopathy (ARVC) and cancer. However, recent studies suggest that pathogenic mutations in TMEM43 may cause auditory neuropathy spectrum disorder (ANSD). Patients with TMEM43 p.Ser372Ter exhibited late-onset progressive ANSD. Impact of TMEM43 pathogenic mutations on individual hearing was likely mediated through effects on gap junction (GJ) structures on glia-like supporting cells (GLS), cell membranes. The TMEM43 p.Arg372Ter pathogenic mutation primarily affected the structure and function of TMEM43 protein, leading to premature termination of protein translation and the production of a truncated protein. Abnormal TMEM43 protein significantly reduced K+ influx in GLS cells, disrupting the endolymphatic K+ circulation and cochlear microenvironment homeostasis. When K+ circulation was obstructed, the endocochlear potential (EP) became abnormal, impairing the physiological function of hair cells and potentially leading to hearing impairment. However, it is important to note that studies on the mechanism is limited, and more experimental evidence is needed to confirm this hypothesis. Currently, there is a significant gap in research on TMEM43 and hearing loss, with many issues remaining unresolved. While TMEM43 has been studied in relation to hearing loss in humans, zebrafish, mice, and rats, the research is still preliminary. Detailed investigations into the molecular pathogenic mechanisms, the impact of mutations on hearing damage, and related therapeutic strategies are needed. Additionally, as a newly identified hearing loss-related gene, the mutation frequency and incidence of hearing disorders associated with TMEM43 have not been effectively quantified. For example, the ClinVar database listed 829 mutation sites for the TMEM43 gene, with only three mutations related to auditory neuropathy: c.605A>T (p.Asn202Ile), c.889T>A (p.Phe297Ile), and c.1114C>T (p.Arg372Ter). Aside from the aforementioned TMEM43 c.1114C>T (p.Arg372Ter) mutation observed in patients, the other two mutations were experimentally induced and have not been found in patients. Consequently, these mutations have been classified as unknown significance. We reviewed the current understanding of TMEM43 and hearing loss, analyzed its role in ear development and sound conduction, and explored the impact of TMEM43 gene variations on hearing loss, aiming to provide new insights for future research and precision medicine related to TMEM43. 
		                        		
		                        		
		                        		
		                        	
2.Discovery and investigation of six polio vaccine derived viruses in Guangzhou City
Min CUI ; Chunhuan ZHANG ; Wei ZHANG ; Jun LIU ; Jialing LI ; Jianxiong XU ; Wenji WANG ; Qing HE ; Lihong NI ; Xuexia YUN ; Huanying ZHENG
Journal of Public Health and Preventive Medicine 2025;36(2):22-25
		                        		
		                        			
		                        			Objective  To understand the surveillance situation of poliovirus in Guangzhou from 2011 to 2024, and to further strengthen polio surveillance and ensure the continued maintenance of a polio-free status.  Methods  An analysis was conducted on the discovery and investigation results of six cases of vaccine-derived poliovirus (VDPV) detected in Guangzhou.  Results  A total of 6 VDPV incidents were reported in Guangzhou from 2011 to June 2024, among which 5 incidents were from sewage sample testing in the Liede Sewage Treatment Plant in Guangzhou, all of which were confirmed as VDPV, with 1 for type I, 1 for type II, and 3 for type III. In addition, one confirmed HFMD case was identified as a type VDPV II carrier. No presence of any wild poliovirus (WPV), VDPV cases, or circulating VDPV (cVDPV) was reported.  Conclusion  Guangzhou City has maintained a high level of vigilance and effectiveness in the monitoring and prevention of polio. Continuously strengthening the construction of the polio monitoring network, optimizing vaccination strategies, and comprehensively improving public health awareness are still the focus of the prevention and control work in the future.
		                        		
		                        		
		                        		
		                        	
3.Perspective of Calcium Imaging Technology Applied to Acupuncture Research.
Sha LI ; Yun LIU ; Nan ZHANG ; Wang LI ; Wen-Jie XU ; Yi-Qian XU ; Yi-Yuan CHEN ; Xiang CUI ; Bing ZHU ; Xin-Yan GAO
Chinese journal of integrative medicine 2024;30(1):3-9
		                        		
		                        			
		                        			Acupuncture, a therapeutic treatment defined as the insertion of needles into the body at specific points (ie, acupoints), has growing in popularity world-wide to treat various diseases effectively, especially acute and chronic pain. In parallel, interest in the physiological mechanisms underlying acupuncture analgesia, particularly the neural mechanisms have been increasing. Over the past decades, our understanding of how the central nervous system and peripheral nervous system process signals induced by acupuncture has developed rapidly by using electrophysiological methods. However, with the development of neuroscience, electrophysiology is being challenged by calcium imaging in view field, neuron population and visualization in vivo. Owing to the outstanding spatial resolution, the novel imaging approaches provide opportunities to enrich our knowledge about the neurophysiological mechanisms of acupuncture analgesia at subcellular, cellular, and circuit levels in combination with new labeling, genetic and circuit tracing techniques. Therefore, this review will introduce the principle and the method of calcium imaging applied to acupuncture research. We will also review the current findings in pain research using calcium imaging from in vitro to in vivo experiments and discuss the potential methodological considerations in studying acupuncture analgesia.
		                        		
		                        		
		                        		
		                        			Calcium
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		                        			Acupuncture Therapy
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		                        			Acupuncture
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		                        			Acupuncture Analgesia/methods*
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		                        			Acupuncture Points
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		                        			Technology
		                        			
		                        		
		                        	
4.Association between the risk of tuberculosis outbreak in schools and the visit interval of index cases
ZHANG Xiaolong, CUI Caiyan, FU Ying, WANG Feixian, LI Yun, JIANG Jun
Chinese Journal of School Health 2024;45(1):138-141
		                        		
		                        			Objective:
		                        			To analyze the relationship between the risk of tuberculosis outbreaks in schools and the visit interval of index cases, so as to provide a scientific reference for predicting the risks of tuberculosis outbreak and making preventive measures.
		                        		
		                        			Methods:
		                        			A total of 630 index cases from school tuberculosis outbreaks were studied during January, 2015 to December, 2022. Data on demographics, consultation history, etiological diagnosis, and methods of detection were collected. Restricted Cubic Splines (RCS), unconditional Logistic regression, and the receiver operating characteristic curve (ROC curve) were used for analysis.
		                        		
		                        			Results:
		                        			The RCS fitted curve showed that the risk of a tuberculosis outbreak linearly increased when the consultation interval for etiologically negative patients exceeded 5.79 days, or for etiologically positive patients exceeded 8.37 days. After multi factor adjustment, for every additional day in the visit interval of the index case, the odds ratio ( OR ) value for a high risk outbreak was 1.10 (95% CI =1.07-1.13)( P <0.05). When analyzed by tertiles of visit intervals, compared to an interval of <14 days, the  OR  values (95% CI ) for high risk outbreaks in schools with intervals of 14-<28 days and ≥28 days were 10.32(3.04-35.10) and 82.58( 28.42 -239.95), respectively( P <0.01), indicating a trend of increasing outbreak risk with longer visit intervals. Based on the ROC curve analysis, the optimal threshold for predicting a high risk school tuberculosis outbreak was 23.5 days, with an area under the curve ( AUC ) of 0.93 (95% CI =0.89-0.98).
		                        		
		                        			Conclusion
		                        			An extended visit interval of index cases is a good early warning indicator for high risk tuberculosis outbreaks in schools and could be considered a key factor in early intervention and risk control strategies.
		                        		
		                        		
		                        		
		                        	
5.Prognostic significance of MyD88L265P and CD79B mutations in primary central nervous system lymphoma
Hao-Yun JIANG ; Qi-Qi JIN ; Li-Tian ZHANG ; Cui-Cui LI ; Ning-Ning YUE ; Chong-Yang WU
Medical Journal of Chinese People's Liberation Army 2024;49(1):57-63
		                        		
		                        			
		                        			Objective To analyze the relationship between MyD88L265P and CD79B mutations in tumor tissue and the prognosis of primary central nervous system lymphoma(PCNSL).Methods 18 PCNSL patients with normal immune function(no history of HIV infection and immunosuppressants administration)who were diagnosed by craniotomy or stereotaxic biopsy in the Second Hospital of Lanzhou University from August 2018 to November 2020 were retrospectively analyzed.Real-time quantitative PCR and first-generation sequencing techniques were respectively used to detect MyD88L265P and CD79B mutations in tumor tissues of 18 PCNSL patients.Univariate analysis and Cox regression multivariate analysis were performed for indicators that may be associated with first progression-free survival(PFS)and overall survival in PCNSL.Results The mutation rate of MyD88L265P was 38.9%,the mutation rate of CD79B was 33.3%,and the co-mutation rate of MyD88L265P/CD79B was 27.8%in PCNSL tissue of 18 patients.Univariate analysis showed that the PCNSL patients with multiple lesions,deep involvement of lesions,and tissue CD79B mutation had a statistically significant shorter time of PFS(P<0.05).Multivariate analysis showed that deep lesion involvement(HR=0.135,95%CI 0.023-0.799,P<0.05)and CD79B mutation(HR=0.149,95%CI 0.028-0.800,P<0.05)in PCNSL tissue were independent prognostic factors for PCNSL patients.Conclusion The frequency of MyD88L265P and CD79B mutations was high in tumor tissues of 18 PCNSL patients,and these two gene mutations may be associated with poor prognosis of PCNSL,especially CD79B mutation.
		                        		
		                        		
		                        		
		                        	
6.Neonatal-onset primary mitochondrial disease caused by nuclear gene mutations: a report of 4 cases
Qingyang CUI ; Yun SHANG ; Yazhou SUN ; Guimei SANG ; Wen LI ; Xiaori HE ; Xiaoyun GONG
Chinese Journal of Neonatology 2024;39(1):34-37
		                        		
		                        			
		                        			Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.
		                        		
		                        		
		                        		
		                        	
7.Exploration on the molecular mechanism of Sanhuang Yishen Capsules for the treatment of diabetes based on network pharmacology and experimental verification
Xiaofeng MENG ; Hailong BAI ; Yun BIAN ; Aizu ZHANG ; Fengsheng TIAN ; Ronggang CUI ; Yang SU ; Juan LI
International Journal of Traditional Chinese Medicine 2024;46(10):1330-1337
		                        		
		                        			
		                        			Objective:To explore the material basis and potential mechanism of Sanhuang Yishen Capsules in the treatment of diabetes through network pharmacology, molecular docking and experimental verification.Methods:The active components and targets of Sanhuang Yishhen Capsules were screened using China Natural product chemical composition database and SymMap database, and the related targets of T2DM were screened by GeneCards database. The "Chinese materia medica-active component-target" network was constructed, and the intersection genes were enriched by GO and KEGG using R language. Key active components were selected for molecular docking verification with potential core targets. 60 rats were divided into normal group, model group, and Sanhuang Yishen Capsules group according to random number table method, with 15 rats in each group. In addition to the normal group, the diabetic rat model was prepared in the other groups, and the corresponding drugs were intragastric in each group for 8 weeks. The levels of fasting blood glucose (FBG), fasting insulin (FINS) and insulin resistance index (HOMA-IR) were measured by radioimmunoassay. Western blotting was used to detect protein expressions of epidermal growth factor receptor (EGFR), epidermal growth factor (EGF), Akt serine/threonine kinase 1 (AKT1), recombinant tumor protein p53 (TP53), and recombinant caspase 3 (CASP3).Results:A total of 160 active components and 298 targets of Sanhuang Yishen Capsules, 2194 targets related to T2DM, and 166 intersection targets were obtained. GO and KEGG analyzed a series of biological reaction processes mainly involved in signal transduction, oxidative stress, apoptosis, etc., and mainly involved in the regulation of P13K/Akt, P53, CASP3 and other targets. The results of molecular docking showed that the main active components obtained by screening had strong binding with the target. Compared with model group, FBG, FINS, HOMA-IR, TP53 and CASP3 in Sanhuang Yishen Capsules group decreased ( P<0.05), EGFR, EGF and Akt1 proteins increased ( P<0.05). Conclusion:The mechanism of Sanhuang Yishen Capsules for the treatment of may be related to the regulation of EGF/EGFR/P13K/Akt signaling pathway, TP53 signaling pathway, CASP3 signaling pathway, PPARG signaling pathway, ESR1 signaling pathway, PTGS2 signaling pathway, CAT signaling pathway and CTNNB1 signaling pathway.
		                        		
		                        		
		                        		
		                        	
8.Advances in Biochemical Sensor Devices Based on Two-dimensional Material Field Effect Transistors
Cui-Yun KOU ; Yi-Yu LUO ; Hai-Guo HU ; Yu BAO ; Zhi-Nan GUO ; Li NIU
Chinese Journal of Analytical Chemistry 2024;52(2):157-165
		                        		
		                        			
		                        			Field effect transistor(FET)biochemical sensors show great potential in the fields of environmental monitoring,food safety,disease diagnosis and clinical treatment due to their low noise,low power consumption,label-free,easy integration and miniaturization characteristics.Two-dimensional(2D)materials,as a new generation of channel materials for FET biochemical sensors,have atomic-level thickness,high carrier mobility,high specific surface area and tunable bandgap,which can further improve the performance of FET biochemical sensors,extend their application areas,and promote the rapid development of FET biochemical sensors.This review focused on the development and latest progress of 2D material-based FET biochemical sensors,along with the challenges and prospects of 2D material-based FET biochemical sensors,which aimed to provide new device design conceptions and promote the further development of biochemical sensing technology.
		                        		
		                        		
		                        		
		                        	
9.Applying the Electrical Impedance Tomography to Assess Lung Regional Ventilation Distribution in ICU Patients After Cardiac Surgery and Exploring Its Preliminary Values
Wenjia LIU ; Runshi ZHOU ; Zunzhu LI ; Longxiang SU ; Wenbo CUI ; Yun LONG ; Huaiwu HE
Medical Journal of Peking Union Medical College Hospital 2024;15(3):573-579
		                        		
		                        			
		                        			 To apply electrical impedance tomography (EIT) technology to assess the lung regional ventilation distribution in patients admitted to the intensive care unit (ICU) after a cardiac surgery, and to analyze its value of predicting patients' short-term prognosis. Data from 46 patients admitted to ICU after a cardiac surgery from January to November 2023 were retrospectively collected. Using EIT, we assessed the lung regional ventilation of four regions of interest (ROI) and analyzed its influence on patients' length of stay in ICU, mechanical ventilation duration and tracheal intubation duration. A total of 46 patients were selected, including 29 males and 17 females, with an average age of (58.2±9.5) years.The patients who received a cardiac surgery equal to or over 5 hours had worse ventilation in the dorsal region (ROI 4) ( The length of a cardiac surgery influences patients' lung ventilation, which further impacts patients' prognosis. EIT can be used as a bedside tool to assess patients' lung ventilation and inform corresponding clinical interventions to improve patients' prognosis.
		                        		
		                        	
10.Differentiation and Treatment of Co-morbidity of Osteoporosis and Knee Osteoarthritis based on the Concept of "Wei (痿) and Bi (痹) Unity"
Yushi CUI ; Hongfei WU ; Yun GAO ; Runmin LAI ; Xingping ZHANG ; Shuai ZHANG ; Mingyuan WANG ; Yamin LI
Journal of Traditional Chinese Medicine 2024;65(15):1565-1570
		                        		
		                        			
		                        			Osteoporosis and knee osteoarthritis often co-occur and are closely related in terms of epidemiology, clinical symptoms, pathogenesis and other aspects. Therefore, it is necessary to manage the co-morbidity and treat the two as a whole. Based on the overall relationship between wei (痿) and bi (痹) in TCM, it is believed that osteoporosis and knee osteoarthritis have marrow loss and bone atrophy as the core pathogenesis of co-morbidity, and microfractures as the central pathological link. The overall treatment is rooted in boosting kidney, supplementing marrow and strengthening the bones. According to the pathological manifestations of microfractures in the process of co-morbidity, and the different deficiency and excess characteristics of wei and bi, it can be divided into three types, "wei emerging with mild bi", "wei and bi progressing simultaneously", and "emphasis on both wei and bi", for treatment. In terms of "wei emerging with mild bi", that is the early stage of osteoporosis, the traditional Daoyin (导引) is the main therapy. For "wei and bi progressing simultaneously", it can be divided into three stages further, including the onset stage, remission stage, and recovery stage of knee pain, treated with Taohong Siwu Decoction (桃红四物汤), Bushen Huoxue Formula (补肾活血方) and self-made Bushen Qianggu Formula (补肾强骨方) as the main formula respectively. For "emphasis on both wei and bi", the proven formula, Qianggu Zhitong Formula (强骨止痛方), is taken as the main prescription. 
		                        		
		                        		
		                        		
		                        	
            

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