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.Effect of pneumoperitoneum on renal function after robotic-assisted laparoscopic kidney transplantation
Shuncheng TAN ; Jianchun CUI ; Xun SUN ; Yongfeng LI ; Yonglin SONG ; Shuxin LI ; Yinrui MA ; Xingyong MA ; Yafei ZHANG
Organ Transplantation 2025;16(2):295-301
Objective To investigate the effect of pneumoperitoneum pressure during robotic-assisted kidney transplantation (RAKT) on the function of the transplant kidney. Methods The data of 243 kidney transplant recipients were retrospectively analyzed and divided into open kidney transplantation (OKT) group (n=105) and RAKT group (n=138). The RAKT group was further divided into 13 mmHg group (n=67) and 7 mmHg group (n=71) based on pneumoperitoneum pressure. The donor information, recipient's preoperative general data, intraoperative data, and postoperative recovery of the three groups were compared. In the RAKT group, the renal artery, segmental artery, interlobar artery, and venous flow velocity of the transplant kidney were measured using laparoscopic ultrasound. Results There was a statistically significant difference in donor types among the groups (P<0.05), while other donor information and recipient's preoperative general data showed no statistically significant differences (all P>0.05). There were no statistically significant differences in serum creatinine and complications at 30 days and 1 year postoperatively among the groups (all P>0.05). The OKT group and 7 mmHg group had more intraoperative urine output than the 13 mmHg group. Both RAKT groups had less intraoperative blood loss and shorter hospital stays than the OKT group, and longer operation times than the OKT group (all P<0.05). There were no statistically significant differences in operation time, intraoperative blood loss, and hospital stay between the two RAKT groups (all P>0.05). The vascular flow velocity of the transplant kidney decreased at 13 mmHg compared to 7 mmHg pneumoperitoneum pressure, but the differences were not statistically significant (all P>0.05). Conclusions Controllable pneumoperitoneum pressure has a limited impact on the vascular flow velocity of the transplanted kidney. RAKT is a safe and effective surgical method under appropriate pneumoperitoneum pressure, and choosing a lower pneumoperitoneum pressure is more conducive to the early recovery of renal function postoperatively.
3.Optical coherence tomography angiography manifestations of different degrees of nonproliferative diabetic retinopathy
Menghuan DAI ; Dongli LI ; Yixin CUI ; Lu SHEN ; Qirui LI ; Lingna RAO ; Shurong GUO ; Ling YUAN
International Eye Science 2024;24(2):307-311
AIM: To investigate the differences in varying stages of non-proliferative diabetic retinopathy(NPDR)using optical coherence tomography angiography(OCTA).METHODS: Cross-sectional study. A total of 77 cases(77 eyes)of diabetic patients were included, and they were divided into non-diabetic retinopathy(NDR; 23 eyes)and non-proliferative diabetic retinopathy(NPDR; 54 eyes)groups, further subdivided into mild NPDR(20 eyes), moderate NPDR(20 eyes), and severe NPDR(14 eyes). Foveal avascular zone(FAZ)area, superficial and deep capillary plexus densities(SSP and DSP), and visual acuity(LogMAR)were compared between NDR and NPDR groups. Furthermore, the visual acuity, FAZ area and levels of SSP and DSP were compared in different degrees of NPDR. Correlation analysis were conducted to elucidate relationships between FAZ area, visual acuity, SSP, DSP, and severity of the disease.RESULTS: Compared with the NDR group, the visual acuity(LogMAR)and macular FAZ area increased, while SSP and DSP were decreased in the NPDR group(P<0.05); there were significant differences in visual acuity, FAZ area and SSP and DSP levels in different degrees of NPDR(P<0.05). Visual acuity(LogMAR)and FAZ area displayed a positive correlation with the severity of disease, while SSP and DSP showed a negative correlation.CONCLUSION: With the progression of NPDR, the visual acuity(LogMAR)and FAZ area increased, and the SSP and DSP decreased.
4.Impact of inhaled corticosteroid use on elderly chronic pulmonary disease patients with community acquired pneumonia.
Xiudi HAN ; Hong WANG ; Liang CHEN ; Yimin WANG ; Hui LI ; Fei ZHOU ; Xiqian XING ; Chunxiao ZHANG ; Lijun SUO ; Jinxiang WANG ; Guohua YU ; Guangqiang WANG ; Xuexin YAO ; Hongxia YU ; Lei WANG ; Meng LIU ; Chunxue XUE ; Bo LIU ; Xiaoli ZHU ; Yanli LI ; Ying XIAO ; Xiaojing CUI ; Lijuan LI ; Xuedong LIU ; Bin CAO
Chinese Medical Journal 2024;137(2):241-243
5.Pathogenesis and Traditional Chinese Medicine Treatment of Rheumatoid Arthritis Based on Theory of "Harmful Hyperactivity and Responding Inhibition"
Siyu LI ; Changyue SONG ; Xiaohui SU ; Jingbo WANG ; Huantian CUI ; Xiangying KONG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(23):300-307
Rheumatoid arthritis (RA) is a chronic autoimmune disease with a complex pathogenesis. Immune dysfunction, synovial inflammation, and bone destruction are the key pathological links. The theory of "harmful hyperactivity and responding inhibition" is a high-level summary of the coordinated development of things in nature and the generation and restriction of the five elements and the six factors in nature. People and all things have the same origin, and the theory of "harmful hyperactivity and responding inhibition" represents the intrinsic regulation mechanism of the human body's homeostasis, reflecting the unity of opposites of "hyperactivity" and "inhibition" and emphasizing coordination and stabilization. In the pathogenesis of RA, the excessive immune response disrupts the normal body balance, which is closely related to the process of "hyperactivity becoming harmful". Synovial inflammation, tissue hyperplasia, and bone destruction are pathological results of the dysregulation of the body's immune self-stabilization function and can be regarded as the process of "failing to inhibition". Therefore, the theory of "hyperactivity harmful hyperactivity and responding inhibition" provides a unique perspective for understanding the modern pathological mechanisms of RA. Based on the theory of "harmful hyperactivity and responding inhibition" and the pathogenesis of RA, the author analyzed the modern medical basis of RA from the perspective of traditional Chinese medicine (TCM) and revealed the intrinsic connection between TCM pathogenesis such as insufficiency of vital energy and blood, strong defensive Qi and weak nutrient Qi, and intertwined phlegm and blood stasis and modern research on autoimmune disorders, synovial inflammation, and bone destruction. With the therapeutic criterion of "harm inhibition and responsible supporting", the article summarized the mechanism of TCM in calming hyperactivity and supporting invincibility, which provided theoretical references for the clinical treatment of RA.
6.Factors affecting differentiation between Oncomelania hupensis and Tricula snails among schistosomiasis control professionals in Yunnan Province
Xiao CUI ; Jing SONG ; Chunying LI ; Hongqiong WANG ; Chunhong DU ; Meifen SHEN ; Zaogai YANG ; Xinping SHI ; Shizhu LI ; Yi DONG
Chinese Journal of Schistosomiasis Control 2024;36(5):514-520
Objective To investigate the capability for distinguishing between the morphology of Oncomelania hupensis and Tricula snails and its influencing factors among schistosomiasis control professionals in Yunnan Province, so as to evaluate the interference of Tricula snails with O. hupensis surveys. Methods O. hupensis and Tricula snails were sampled from 9 schistosomiasis-endemic counties (districts) in Yunnan Province. The capability for distinguishing between O. hupensis and Tricula snails was evaluated using online questionnaire surveys and field blind tests among schistosomiasis control professionals, and the proportions of correct judgment, misjudgment and missed judgment were calculated. Univariate and multivariate logistic regression models were created using the software SPSS 25.0, and factors affecting the proportion of correct judgments of O. hupensis snails were identified among schistosomiasis control professionals. Results Questionnaire surveys and field blind tests showed that the overall proportions of correct judgments of O. hupensis snails were 56.77% (2 305/4 060) and 68.28% (1 556/2 279) among schistosomiasis control professionals in Yunnan Province, respectively. Univariate logistic regression analysis of online questionnaire surveys identified gender [odds ratio (OR) = 1.244, 95% confidential interval (CI): (1.073, 1.441), P < 0.05], professional title [OR = 0.628, 1.741, 95% CI: (0.453, 0.871), (1.109, 2.734), both P < 0.05], working duration [OR = 0.979, 95% CI: (0.971, 0.987), P < 0.05] and classification of schistosomiasis epidemics in endemic foci [OR = 1.410, 0.293, 0.523, 95% CI: (1.103, 1.804), (0.237, 0.361), (0.416, 0.657), all P < 0.05] as factors affecting the proportion of correct judgments of O. hupensis snails among schistosomiasis control professionals in Yunnan Province, and multivariate logistic regression analysis after adjustments showed that the proportion of O. hupensis snail misjudgments was 1.179 times higher among male schistosomiasis control professionals than among females [OR = 1.179, 95% CI: (1.006, 1.382), P < 0.05], and 1.474 times higher among schistosomiasis control professionals in schistosomiasis-elimination areas with snails than in areas without snails [OR = 1.474, 95% CI: (1.145, 1.898), P < 0.05], and the proportions of missed judgments of O. hupensis snails were 0.284 [OR = 0.284, 95% CI: (0.225, 0.359), P < 0.05] and 0.523 times [OR = 0.523, 95% CI: (0.412, 0.664), P < 0.05] higher among schistosomiasis control professionals in transmission-interruption areas with snails and schistosomiasis-elimination areas with snails than in schistosomiasis-elimination areas without snails. Univariate logistic regression analysis of field blind tests showed age [OR = 2.381, 95% CI: (1.677, 3.381), P < 0.05], professional title [OR = 1.688, 95% CI: (1.103, 2.582), P < 0.05], working duration [OR = 0.970, 95% CI: (0.956, 0.984), P < 0.05] and classification of schistosomiasis epidemics in endemic foci [OR = 0.262, 0.593, 95% CI: (0.188, 0.364), (0.420, 0.837), both P < 0.05] as factors affecting the proportion of correct judgments of O. hupensis snails among schistosomiasis control professionals in Yunnan Province, and multivariate logistic regression analysis after adjustments showed the proportions of missed judgments of O. hupensis snails were 0.263 [OR = 0.263, 95% CI: (0.176, 0.394), P < 0.05] and 0.604 times [OR = 0.604, 95% CI: (0.416, 0.875), P < 0.05] higher among schistosomiasis control professionals in transmission-interruption areas with snails and schistosomiasis-elimination areas with snails than in schistosomiasis-elimination areas without snails. Conclusions Schistosomiasis control professionals in Yunnan Province have a low accuracy rate for distinguishing between the morphology of O. hupensis and Tricula snails, and gender and classification of schistosomiasis epidemics in endemic foci are factors that affect their ability to distinguish. The presence of Tricula snails causes a high degree of interference with O. hupensis surveys in O. hupensis snail-infested areas of Yunnan Province. Reinforced training for distinguishing between O. hupensis and Tricula snails is required among schistosomiasis control professionals in Yunnan Province.
7.Lipid-lowering Activity of Quansanqi Tablets
Yan GUO ; Lyudong GONG ; Mengqi ZHANG ; Chengzhi ZHONG ; Haiyuan ZHANG ; Bing SHI ; Desong WU ; Tao CUI ; Zhaoyun ZHU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(6):95-103
ObjectiveTo evaluate the lipid-lowering activity of Quansanqi tablets(QSQ), an innovative new drug of Panax notoginseng. MethodMice and golden hamsters were used to establish a hyperlipidemia model by injecting egg yolk milk and feeding high-fat diets. The levels of total cholesterol (TC),triglyceride (TG),low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were detected, and liver function indicators [alanine aminotransferase (ALT), aspartate amino-transferase (AST), and alkaline phosphatase (ALP)] of golden hamsters were detected. Hematoxylin-eosin (HE) staining was used to observe the degree of liver injury. In the experiments, a normal group, a model group, an atorvastatin calcium group, and low-, medium-, and high-dose QSQ groups (0.32, 0.64, 1.28 g·kg-1 for mice, and 0.16, 0.32, 0.64 g·kg-1 for golden hamsters) were set up. ResultCompared with the normal group, the acute hyperlipidemia model mice showed increased TC, TG, and LDL-C levels (P<0.01), and the hyperlipidemia model mice showed increased TC and LDL-C levels (P<0.01). Additionally, the hyperlipidemia model golden hamsters showed increased serum TC, TG, LDL-C, ALT, AST, and ALP levels (P<0.05, P<0.01). HE staining indicated the presence of fat accumulation in the liver, accompanied by inflammatory reactions. Compared with the model group, QSQ of various doses could reduce TC, TG, and LDL-C levels in acute hyperlipidemia model mice (P<0.05, P<0.01), and the high-dose QSQ could reduce TC and LDL-C levels (P<0.01) and increase HDL-C level (P<0.05) in hyperlipidemia model mice, as well as reduce TC, TG, and LDL-C levels in hyperlipidemia model golden hamsters (P<0.05, P<0.01), especially in the first two weeks. In addition, atorvastatin calcium could further increase ALT, AST, and ALP levels (P<0.05, P<0.01) and aggravate liver function damage, while low-dose QSQ could reduce ALT, AST, and ALP (P<0.05), and medium- and high-dose QSQ did not cause further liver function damage. ConclusionQSQ have a significant lipid-lowering effect on different hyperlipidemia model animals and can improve liver function and liver injury.
8.Malaria control knowledge and behaviors and their influencing factors among residents in Banlao Township, Cangyuan County, Yunnan Province
Chunli DING ; Jianwei XU ; Zurui LIN ; Shiyan XU ; Xin CUI ; Weijiang SUN ; Guangqiang TIAN ; Chunhua LI ; Zongsheng LUO ; Yaowu ZHOU ; Yaming YANG
Chinese Journal of Schistosomiasis Control 2023;35(1):44-50
Objective To investigate the awareness of malaria-related knowledge, the use of mosquito nets and their influencing factors among residents in Banlao Township, Cangyuan County, Yunnan Province.. Methods In August 2020, 19 settlement sites in Banlao Township, Cangyuan County, Lincang City, Yunnan Province were selected as study areas, and permanent residents at ages of 10 years and older were enrolled for a questionnaire survey, including residents’ demographics, family economic status, malaria control knowledge and use of mosquito nets. In addition, the factors affecting the use of mosquito nets in the night prior to the survey were identified using multivariate logistic regression analysis. Results A total of 320 questionnaires were allocated, and all were recovered (a 100% recovery rate). There were 316 valid questionnaires, with an effective recovery rate of 98.75%. The 316 respondents included 152 men and 164 women and 250 Chinese respondents and 66 foreign respondents. The awareness of clinical syndromes of malaria was significantly higher among Chinese residents (71.60%) than among foreign residents (50.00%) (χ2 = 11.03, P < 0.01), and the proportions of Chinese and foreign residents sleeping under mosquito nets were 46.00% and 69.70% on the night prior to the survey, respectively (χ2 = 11.73, P < 0.01). Multivariate logistic regression analysis identified ethnicity group and type of residence as factors affecting the use of mosquito nets in the night prior to the survey. Conclusions The awareness of malaria control knowledge, the coverage and the use of mosquito nets were low among residents in Banlao Township, Cangyuan County, Yunnan Province. Targeted health education is recommended to improve the awareness of malaria control knowledge and self-protection ability. In addition, improving the allocation of long-lasting mosquito nets and health education pertaining to their uses and increasing the proportion of using mosquito nets correctly is needed to prevent re-establishment of imported malaria.
9.Progress of research on the role of Atoh1 gene in the regeneration of mammalian auditory hair cells.
Rongjie CUI ; Shiyu ZHOU ; Yunlong LI
Chinese Journal of Medical Genetics 2023;40(5):614-617
Atoh1 gene encodes a helix-loop-helix transcription factor which is involved in the generation and differentiation of mammalian auditory hair cells and supporting cells, and regulation of the proliferation of cochlear cells, therefore plays an important role in the pathogenesis and recovery of sensorineural deafness. This study reviews the progress of the Atoh1 gene in hair cell regeneration, with the aim of providing a reference for the study of hair cell regeneration gene therapy for sensorineural deafness.
Animals
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Humans
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Basic Helix-Loop-Helix Transcription Factors/genetics*
;
Hair Cells, Auditory/physiology*
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Transcription Factors
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Hearing Loss, Sensorineural
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Cell Differentiation
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Deafness
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Regeneration/genetics*
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Mammals
10.Development and application syndromic surveillance and early warning system in border area in Yunnan Province.
Xiao Xiao SONG ; Le CAI ; Wei LIU ; Wen Long CUI ; Xia PENG ; Qiong Fen LI ; Yi DONG ; Ming Dong YANG ; Bo Qian WU ; Tao Ke YUE ; Jian Hua FAN ; Yuan Yuan LI ; Yan LI
Chinese Journal of Epidemiology 2023;44(5):845-850
Objective: To establish a dynamic syndromic surveillance system in the border areas of Yunnan Province based on information technology, evaluate its effectiveness and timeliness in the response to common communicable disease epidemics and improve the communicable disease prevention and control in border areas. Methods: Three border counties were selected for full coverage as study areas, and dynamic surveillance for 14 symptoms and 6 syndromes were conducted in medical institutions, the daily collection of information about students' school absence in primary schools and febrile illness in inbound people at border ports were conducted in these counties from January 2016 to February 2018 to establish an early warning system based on mobile phone and computer platform for a field experimental study. Results: With syndromes of rash, influenza-like illness and the numbers of primary school absence, the most common communicable disease events, such as hand foot and mouth disease, influenza and chickenpox, can be identified 1-5 days in advance by using EARS-3C and Kulldorff time-space scanning models with high sensitivity and specificity. The system is easy to use with strong security and feasibility. All the information and the warning alerts are released in the form of interactive charts and visual maps, which can facilitate the timely response. Conclusions: This system is highly effective and easy to operate in the detection of possible outbreaks of common communicable diseases in border areas in real time, so the timely and effective intervention can be conducted to reduce the risk of local and cross-border communicable disease outbreaks. It has practical application value.
Humans
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Influenza, Human
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Sentinel Surveillance
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Syndrome
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China
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Cell Phone

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