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.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
4.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.
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.Advances in traditional Chinese medicine treatment of non-alcoholic fatty liver disease via farnesoid X receptor.
Huan-Huan ZHAO ; Ji CUI ; Jin-Jia ZHANG ; Jia-Xin CHEN ; An-Hua SHI ; Xiao-Song ZHU
China Journal of Chinese Materia Medica 2023;48(24):6582-6591
Non-alcoholic fatty liver disease(NAFLD) is a chronic metabolic condition with rapidly increasing incidence, becoming a public health issue of worldwide concern. Studies have shown that farnesoid X receptor(FXR)-based modulation of downstream targets can improve liver function and metabolic status in the patients with NAFLD and may be a potential drug target for treating this di-sease. Great progress has been achieved in the development of drugs targeting FXR for the treatment of NAFLD. A number of studies have explored the traditional Chinese medicine and their active ingredients for the treatment of NAFLD via FXR considering the high safety and efficacy and mild side effects. This paper systematically describes the mechanism of traditional Chinese medicines in the treatment of NAFLD via FXR and the downstream targets, aiming to provide precise targets for the drug development and clinical treatment of NAFLD.
Humans
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Non-alcoholic Fatty Liver Disease/metabolism*
;
Liver
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Medicine, Chinese Traditional/adverse effects*
;
Receptors, Cytoplasmic and Nuclear/metabolism*
8.Incidence and prognosis of olfactory and gustatory dysfunctions related to infection of SARS-CoV-2 Omicron strain: a national multi-center survey of 35 566 population.
Meng Fan LIU ; Rui Xia MA ; Xian Bao CAO ; Hua ZHANG ; Shui Hong ZHOU ; Wei Hong JIANG ; Yan JIANG ; Jing Wu SUN ; Qin Tai YANG ; Xue Zhong LI ; Ya Nan SUN ; Li SHI ; Min WANG ; Xi Cheng SONG ; Fu Quan CHEN ; Xiao Shu ZHANG ; Hong Quan WEI ; Shao Qing YU ; Dong Dong ZHU ; Luo BA ; Zhi Wei CAO ; Xu Ping XIAO ; Xin WEI ; Zhi Hong LIN ; Feng Hong CHEN ; Chun Guang SHAN ; Guang Ke WANG ; Jing YE ; Shen Hong QU ; Chang Qing ZHAO ; Zhen Lin WANG ; Hua Bin LI ; Feng LIU ; Xiao Bo CUI ; Sheng Nan YE ; Zheng LIU ; Yu XU ; Xiao CAI ; Wei HANG ; Ru Xin ZHANG ; Yu Lin ZHAO ; Guo Dong YU ; Guang Gang SHI ; Mei Ping LU ; Yang SHEN ; Yu Tong ZHAO ; Jia Hong PEI ; Shao Bing XIE ; Long Gang YU ; Ye Hai LIU ; Shao wei GU ; Yu Cheng YANG ; Lei CHENG ; Jian Feng LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(6):579-588
Objective: This cross-sectional investigation aimed to determine the incidence, clinical characteristics, prognosis, and related risk factors of olfactory and gustatory dysfunctions related to infection with the SARS-CoV-2 Omicron strain in mainland China. Methods: Data of patients with SARS-CoV-2 from December 28, 2022, to February 21, 2023, were collected through online and offline questionnaires from 45 tertiary hospitals and one center for disease control and prevention in mainland China. The questionnaire included demographic information, previous health history, smoking and alcohol drinking, SARS-CoV-2 vaccination, olfactory and gustatory function before and after infection, other symptoms after infection, as well as the duration and improvement of olfactory and gustatory dysfunction. The self-reported olfactory and gustatory functions of patients were evaluated using the Olfactory VAS scale and Gustatory VAS scale. Results: A total of 35 566 valid questionnaires were obtained, revealing a high incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain (67.75%). Females(χ2=367.013, P<0.001) and young people(χ2=120.210, P<0.001) were more likely to develop these dysfunctions. Gender(OR=1.564, 95%CI: 1.487-1.645), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), oral health status (OR=0.881, 95%CI: 0.839-0.926), smoking history (OR=1.152, 95%CI=1.080-1.229), and drinking history (OR=0.854, 95%CI: 0.785-0.928) were correlated with the occurrence of olfactory and taste dysfunctions related to SARS-CoV-2(above P<0.001). 44.62% (4 391/9 840) of the patients who had not recovered their sense of smell and taste also suffered from nasal congestion, runny nose, and 32.62% (3 210/9 840) suffered from dry mouth and sore throat. The improvement of olfactory and taste functions was correlated with the persistence of accompanying symptoms(χ2=10.873, P=0.001). The average score of olfactory and taste VAS scale was 8.41 and 8.51 respectively before SARS-CoV-2 infection, but decreased to3.69 and 4.29 respectively after SARS-CoV-2 infection, and recovered to 5.83and 6.55 respectively at the time of the survey. The median duration of olfactory and gustatory dysfunctions was 15 days and 12 days, respectively, with 0.5% (121/24 096) of patients experiencing these dysfunctions for more than 28 days. The overall self-reported improvement rate of smell and taste dysfunctions was 59.16% (14 256/24 096). Gender(OR=0.893, 95%CI: 0.839-0.951), SARS-CoV-2 vaccination status (OR=1.334, 95%CI: 1.164-1.530), history of head and facial trauma(OR=1.180, 95%CI: 1.036-1.344, P=0.013), nose (OR=1.104, 95%CI: 1.042-1.171, P=0.001) and oral (OR=1.162, 95%CI: 1.096-1.233) health status, smoking history(OR=0.765, 95%CI: 0.709-0.825), and the persistence of accompanying symptoms (OR=0.359, 95%CI: 0.332-0.388) were correlated with the recovery of olfactory and taste dysfunctions related to SARS-CoV-2 (above P<0.001 except for the indicated values). Conclusion: The incidence of olfactory and taste dysfunctions related to infection with the SARS-CoV-2 Omicron strain is high in mainland China, with females and young people more likely to develop these dysfunctions. Active and effective intervention measures may be required for cases that persist for a long time. The recovery of olfactory and taste functions is influenced by several factors, including gender, SARS-CoV-2 vaccination status, history of head and facial trauma, nasal and oral health status, smoking history, and persistence of accompanying symptoms.
Female
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Humans
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Adolescent
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SARS-CoV-2
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Smell
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COVID-19/complications*
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Cross-Sectional Studies
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COVID-19 Vaccines
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Incidence
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Olfaction Disorders/etiology*
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Taste Disorders/etiology*
;
Prognosis
9.Expert consensus on the prevention and treatment of adverse reactions in subcutaneous immunotherapy(2023, Chongqing).
Yu Cheng YANG ; Yang SHEN ; Xiang Dong WANG ; Yan JIANG ; Qian Hui QIU ; Jian LI ; Shao Qing YU ; Xia KE ; Feng LIU ; Yuan Teng XU ; Hong Fei LOU ; Hong Tian WANG ; Guo Dong YU ; Rui XU ; Juan MENG ; Cui Da MENG ; Na SUN ; Jian Jun CHEN ; Ming ZENG ; Zhi Hai XIE ; Yue Qi SUN ; Jun TANG ; Ke Qing ZHAO ; Wei Tian ZHANG ; Zhao Hui SHI ; Cheng Li XU ; Yan Li YANG ; Mei Ping LU ; Hui Ping YE ; Xin WEI ; Bin SUN ; Yun Fang AN ; Ya Nan SUN ; Yu Rong GU ; Tian Hong ZHANG ; Luo BA ; Qin Tai YANG ; Jing YE ; Yu XU ; Hua Bin LI
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(7):643-656
10.Effects of granulocyte macrophage colony-stimulating factor, nerve growth factor and interleukin-17 on autoimmune prostatitis
Shicheng FAN ; Yuanquan ZHU ; Shengbin LI ; Yongbo CHU ; Qingpeng CUI
Journal of Modern Urology 2023;28(10):894-899
【Objective】 To investigate the significance of granulocyte macrophage colony-stimulating factor (GM-CSF), nerve growth factor (NGF) and interleukin-17 (IL-17) in the prostate tissue of rats with experimental autoimmune prostatitis(EAP). 【Methods】 EAP rat models were established and divided into control group, EAP group, anti-GM-CSF group (blocking control group) and anti-GM-CSFEAP group (blocking EAP group). Pain behaviors were tested. The pathological changes were observed with HE staining. The mRNA and protein expressions of GM-CSF, NGF and IL-17 were detected with RT-PCR and Western blot. 【Results】 Pain test showed the anti-GM-CSF group had less chronic pelvic pain than the EAP group. HE staining showed the anti-GM-CSF group had less tissue inflammatory response. The EAP inflammation score was higher in the control group than in the anti-GM-CSF group. Immunohistochemistry showed GM-CSF was positive in the EAP group (mainly in the nucleus). RT-PCR and Western blot results showed the mRNA and protein expressions of IL-17 and NGF significantly decreased 50 days after EAP in the anti-GM-CSF group. 【Conclusion】 Increased expressions of GM-CSF, NGF and IL-17 in prostate tissue of EAP rats may be important inflammatory mediators of chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS);decreased expressions of NGF and IL-17 after resistance against GM-CSF indicate that GM-CSF may be a potential therapeutic target for CP/CPPS.

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