1.Effect of Zishen Tongguan Formula on "Gut-prostate" Axis of Rats with Chronic Non-bacterial Prostatitis Based on 16S rDNA Sequencing
Xiran LI ; Mengjiao CHEN ; Kaiping ZOU ; Chenguang ZHAO ; Xingbin DAI ; Xiaoqing ZHANG ; Shun LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):63-71
ObjectiveBased on the theory of "gut-prostate" axis, this study explored the effects and mechanisms of Zishen Tongguan formula and Cinnamomi Cortex in the formula in treating rats with chronic non-bacterial prostatitis(CNP) by detecting the levels of inflammatory factors, and the composition and structure of intestinal flora in CNP rats. MethodsEight out of 42 SD rats were randomly selected as the normal group, and the remaining rats were injected with carrageenan to prepare the CNP model. After successful modeling, 32 rats were randomly divided into the model group, Ningmitai capsule group(0.50 g·kg-1), Zishen Tongguan formula group(2.00 g·kg-1), and the Phellodendri Chinensis Cortex-Anemarrhenae Rhizoma pair group(PCC-AR group, 2.00 g·kg-1), with 8 rats in each group. The administered groups were given the corresponding medicinal solution by gavage, and the normal and model groups were intragastrically administered with an equal volume of normal saline, once a day for 14 consecutive days. The prostate tissues of rats were collected and subjected to hematoxylin-eosin(HE) staining and Masson staining to observe the pathological changes of the tissues in each group. Enzyme-linked immunosorbent assay(ELISA) was used to detect the levels of related inflammatory factors in rat serum, and 16S rDNA sequencing was used to analyze the abundance and diversity changes of gut microbiota before and after administration, and species difference analysis was performed. ResultsAll the administered groups could alleviate the inflammatory symptoms of CNP rats, increase the expression levels of anti-inflammatory factors and decrease the expression levels of pro-inflammatory factors, with the most sIgnificant effect observed in the Zishen Tongguan formula group. Compared with the normal group, the expression levels of interleukin(IL)-8, hypersensitive C-reactive protein(hs-CRP), immunoglobulin(Ig)M, secretory IgA (sIgA), and inducible nitric oxide synthase(iNOS) were sIgnificantly increased in the model group(P<0.01). Compared with the model group, the expression levels of the above inflammatory factors in all administered groups were significantly reduced(P<0.01). When compared with the PCC-AR group, the Zishen Tongguan formula group showed a significant decrease in transforming growth factor(TGF)-β1 expression level(P<0.05) and a significant increase in IgM expression level(P<0.01). The results of gut microbiota analysis showed that, compared with the PCC-AR group, at the order level, the Zishen Tongguan formula group significantly reduced the relative abundance of conditional pathogens such as Bacteroidales, Acidaminococcales, Rhodospirillales, Clostridiales, and Elusimicrobiales(P<0.01). And at the genus level, the Zishen Tongguan formula group significantly decreased the relative abundance of pathogenic microbiota such as Lachnospira and Bacteroides(P<0.01) and significantly increased the relative abundances of beneficial microbiota such as Ruminococcus and Lactobacillus(P<0.01). ConclusionZishen Tongguan formula can reduce the level of harmful intestinal bacteria, increase the level of beneficial intestinal bacteria, down-regulate the expression of serum inflammatory factors, and the small amount of Cinnamomi Cortex in the formula may play a key role in the treatment of CNP with this formula.
2.Effect of Zishen Tongguan Formula on "Gut-prostate" Axis of Rats with Chronic Non-bacterial Prostatitis Based on 16S rDNA Sequencing
Xiran LI ; Mengjiao CHEN ; Kaiping ZOU ; Chenguang ZHAO ; Xingbin DAI ; Xiaoqing ZHANG ; Shun LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(7):63-71
ObjectiveBased on the theory of "gut-prostate" axis, this study explored the effects and mechanisms of Zishen Tongguan formula and Cinnamomi Cortex in the formula in treating rats with chronic non-bacterial prostatitis(CNP) by detecting the levels of inflammatory factors, and the composition and structure of intestinal flora in CNP rats. MethodsEight out of 42 SD rats were randomly selected as the normal group, and the remaining rats were injected with carrageenan to prepare the CNP model. After successful modeling, 32 rats were randomly divided into the model group, Ningmitai capsule group(0.50 g·kg-1), Zishen Tongguan formula group(2.00 g·kg-1), and the Phellodendri Chinensis Cortex-Anemarrhenae Rhizoma pair group(PCC-AR group, 2.00 g·kg-1), with 8 rats in each group. The administered groups were given the corresponding medicinal solution by gavage, and the normal and model groups were intragastrically administered with an equal volume of normal saline, once a day for 14 consecutive days. The prostate tissues of rats were collected and subjected to hematoxylin-eosin(HE) staining and Masson staining to observe the pathological changes of the tissues in each group. Enzyme-linked immunosorbent assay(ELISA) was used to detect the levels of related inflammatory factors in rat serum, and 16S rDNA sequencing was used to analyze the abundance and diversity changes of gut microbiota before and after administration, and species difference analysis was performed. ResultsAll the administered groups could alleviate the inflammatory symptoms of CNP rats, increase the expression levels of anti-inflammatory factors and decrease the expression levels of pro-inflammatory factors, with the most sIgnificant effect observed in the Zishen Tongguan formula group. Compared with the normal group, the expression levels of interleukin(IL)-8, hypersensitive C-reactive protein(hs-CRP), immunoglobulin(Ig)M, secretory IgA (sIgA), and inducible nitric oxide synthase(iNOS) were sIgnificantly increased in the model group(P<0.01). Compared with the model group, the expression levels of the above inflammatory factors in all administered groups were significantly reduced(P<0.01). When compared with the PCC-AR group, the Zishen Tongguan formula group showed a significant decrease in transforming growth factor(TGF)-β1 expression level(P<0.05) and a significant increase in IgM expression level(P<0.01). The results of gut microbiota analysis showed that, compared with the PCC-AR group, at the order level, the Zishen Tongguan formula group significantly reduced the relative abundance of conditional pathogens such as Bacteroidales, Acidaminococcales, Rhodospirillales, Clostridiales, and Elusimicrobiales(P<0.01). And at the genus level, the Zishen Tongguan formula group significantly decreased the relative abundance of pathogenic microbiota such as Lachnospira and Bacteroides(P<0.01) and significantly increased the relative abundances of beneficial microbiota such as Ruminococcus and Lactobacillus(P<0.01). ConclusionZishen Tongguan formula can reduce the level of harmful intestinal bacteria, increase the level of beneficial intestinal bacteria, down-regulate the expression of serum inflammatory factors, and the small amount of Cinnamomi Cortex in the formula may play a key role in the treatment of CNP with this formula.
3.The relationship between microscopic pattern of blood stasis and renal pathological grade and related physical and chemical indexes in 800 children with Henoch-Sch?nlein purpura nephritis based on"zhengjia in the kidney collateral"
Min GAO ; Ying DING ; Ruihong WU ; Xianqing REN ; Yan XU ; Shanshan HAN ; Yanlin DAI ; Yanjie HUANG ; Xiaoqing YANG ; Shanshan XU
Journal of Beijing University of Traditional Chinese Medicine 2024;47(1):97-106
Objective We aimed to investigate the relationship between microscopic pattern of blood stasis and renal pathological grade and related physical and chemical indexes in children with Henoch-Sch?nlein purpura nephritis(HSPN).Methods We conducted a retrospective analysis of 800 HSPN children from the medical records of the First Affiliated Hospital of Henan University of Chinese Medicine.Laboratory indicators(blood routine test,urine routine test,coagulation test,liver function)and renal pathological indicators of them were collected.According to the severity of renal pathological microscopic lesions,the microscopic pattern of blood stasis was divided into three types,including choroidal discord,dead blood coagulation and intracarenal disease accumulation.The classification of renal microscopic pattern of blood stasis and the correlation between laboratory indexes and renal pathological index were analyzed by Spearman grade correlation and binary Logistic regression analysis.Results(ⅰ)There was no statistical difference of the distribution of the renal microscopic pattern of blood stasis in the different traditional Chinese medicine patterns.(ⅱ)There were significant differences in the contents or the grade of albumin and fibrinogen in the HSPN children with different microscopic pattern of blood stasis(all P<0.05).(ⅲ)The maximum area under the receiver operating characteristic(ROC)curve between fibrinogen and intracarenal disease accumulation was 0.594(95%CI from 0.540 to 0.633,P<0.001);sensitivity was 0.447,specificity was 0.725;the best threshold on the ROC curve of 0.172 was 3.755 g/L.(ⅳ)There were positive correlations between the content of fibrinogen,ISKDC grade and Bohle A grade respectively with the scores of intracarenal disease accumulation type(r=0.176,r=0.315,r=0.656;all P<0.001).(ⅴ)There were positive correlations between the content of fibrinogen,ISKDC grade and Bohle A grade respectively with the renal microscopic pattern of blood stasis(r=0.157,r=0.377,r=0.429;all P<0.001).Conclusion The microscopic renal pattern of blood stasis can not only reflect the severity of renal blood stasis,but also reflect the severity and long-term prognosis of renal diseases.Albumin and urinary protein grade can reflect the early stage of the microscopic renal pattern of the blood stasis(choroidal discord).The content of fibrinogen increases with the aggravation of renal microscopic pattern of blood stasis,reflecting the end-stage of HSPN,which has the correlation with the formation and severity of related indexes.Fibrinogen can be used as a laboratory indicator to assist in the diagnosis of irreversible lesionsin the renal pathology of HSPN children.
4.Efficacy and safety of oliceridine for treatment of moderate to severe pain after surgery with general anesthesia: a prospective, randomized, double-blinded, multicenter, positive-controlled clinical trial
Gong CHEN ; Wen OUYANG ; Ruping DAI ; Xiaoling HU ; Huajing GUO ; Haitao JIANG ; Zhi-Ping WANG ; Xiaoqing CHAI ; Chunhui WANG ; Zhongyuan XIA ; Ailin LUO ; Qiang WANG ; Ruifeng ZENG ; Yanjuan HUANG ; Zhibin ZHAO ; Saiying WANG
Chinese Journal of Anesthesiology 2024;44(2):135-139
Objective:To evaluate the efficacy and safety of oliceridine for treatment of moderate to severe pain after surgery with general anesthesia in patients.Methods:The patients with moderate to severe pain (numeric pain rating scale ≥4) after abdominal surgery with general anesthesia from 14 hospitals between July 6, 2021 and November 9, 2021 were included in this study. The patients were assigned to either experiment group or control group using a random number table method. Experiment group received oliceridine, while control group received morphine, and both groups were treated with a loading dose plus patient-controlled analgesia and supplemental doses for 24 h. The primary efficacy endpoint was the drug response rate within 24 h after giving the loading dose. Secondary efficacy endpoints included early (within 1 h after giving the loading dose) drug response rates and use of rescue medication. Safety endpoints encompassed the development of respiratory depression and other adverse reactions during treatment.Results:After randomization, both the full analysis set and safety analysis set comprised 180 cases, with 92 in experiment group and 88 in control group. The per-protocol set included 170 cases, with 86 in experiment group and 84 in control group. There were no statistically significant differences between the two groups in 24-h drug response rates, rescue analgesia rates, respiratory depression, and incidence of other adverse reactions ( P>0.05). The analysis of full analysis set showed that the experiment group had a higher drug response rate at 5-30 min after giving the loading dose compared to control group ( P<0.05). The per-protocol set analysis indicated that experiment group had a higher drug response rate at 5-15 min after giving the loading dose than control group ( P<0.05). Conclusions:When used for treatment of moderate to severe pain after surgery with general anesthesia in patients, oliceridine provides comparable analgesic efficacy to morphine, with a faster onset.
5.Study on the value of hierarchical management model of performance objectives in the process management of medical equipment procurement
Yusong QIAN ; Hongpeng LI ; Yunqian LI ; Xiaoqing LI ; Xuan DAI ; Jing GAO ; Xiulan TIAN
China Medical Equipment 2024;21(7):149-154
Objective:To construct a hierarchical management model of performance objectives,and to explore its application value in the management of medical equipment procurement process.Methods:The procurement performance evaluation indicators were screened from the medical equipment procurement declaration level,process level,use level and disposal level,and the comprehensive evaluation model was developed by entropy weight method and data envelopment analysis(DEA)method to form the process management plan at the level of personnel,system,data and equipment.A total of 717 sets of medical equipment purchased by Beijing Youan Hospital from 2019 to 2022 were selected,and the conventional management mode(348 units)and hierarchical management mode(369 units)were used for management according to different performance objectives evaluation methods.The performance objectives achievement,the quality of procurement process management and the satisfaction of clinical allocation management of medical equipment procurement under different management modes were compared.Results:The 369 units of equipment under the hierarchical management model included operating room equipment,laboratory equipment,inpatient treatment equipment,disinfection supply equipment and other medical equipment,and the performance objectives achievement of the procurement were(96.10±3.46)%,(96.76±2.65)%,(95.59±2.52)%,(96.06±2.34)%and(96.88±1.75)%,respectively,which were higher than those of the management model,the difference was statistically significant(t=2.663,2.801,2.858,4.111,3.548,P<0.05)The effective ratio of DEA in the comprehensive evaluation of the medical equipment procurement declaration level,process level,use level and disposal level under the hierarchical management model were 96.7%,98.6%,94.6%and 99.7%,respectively,which were higher than those of the conventional management model,the difference was statistically significant(x2=10.983,9.327,7.270,12.309,P<0.05).The satisfaction of clinical departments with the procurement and use of medical equipment under the hierarchical management model were(95.82±2.83)%and(97.25±1.96)%,respectively,which were higher than those of the conventional management model,the difference was statistically significant(t=5.575,5.248,P<0.05).Conclusion:The hierarchical management model can effectively implement the performance objectives of medical equipment procurement,improve the management quality of medical equipment procurement process,improve satisfaction of clinical departments and management personnel after procurement,and ensure the quality of equipment operation.
6.The value of a decision tree model based on multiparametric MRI in the diagnosis of parotid tumors
Gongxin YANG ; Xiaoqing DAI ; Ling ZHU ; Xiaofeng TAO
Chinese Journal of Radiology 2024;58(5):503-509
Objective:To establish a diagnostic decision tree model for parotid tumors closely related to clinical treatment decisions based on multiparametric MRI and to explore and validate its clinical value in parotid tumor diagnosis.Methods:This study was a cross-sectional study that retrospectively collected MRI data from 461 patients with pathologically confirmed parotid tumors from June 2018 to December 2022 at the Ninth People′s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, including 364 cases of benign tumors, 82 cases of malignant epithelial tumors, and 15 cases of lymphoma. Stratified random sampling was performed according to pathological results to divide the data into a training set (326 cases) and a validation set (135 cases). In the training set, there were 256 cases of benign tumors, 59 cases of malignant epithelial tumors, and 11 cases of lymphoma, while in the validation set, there were 108 cases of benign tumors, 23 cases of malignant epithelial tumors, and 4 cases of lymphoma. Based on MRI and clinical features, a decision tree model was established using the Chi-squared Automatic Interaction Detector (CHAID) algorithm, and the model was used for classification diagnosis. The diagnostic accuracy for benign tumors, malignant epithelial tumors, and lymphoma was calculated, and receiver operating characteristic curves were plotted to evaluate the diagnostic performance for each tumor type individually.Results:In the training set, four optimal diagnostic indicators for tumors were obtained through the CHAID algorithm, including tumor capsule, shape, apparent diffusion coefficient value, and time-signal curve type. A decision tree model was established based on these indicators. The overall diagnostic accuracy of the model for benign tumors, malignant epithelial tumors, and lymphoma was 90.8% (296/326) in the training set and 94.1% (127/135) in the validation set. The area under the curve for independent diagnosis of benign tumors, malignant epithelial tumors, and lymphoma in the training set was 0.964, 0.957, and 0.980, respectively, while in the validation set, it was 0.958, 0.944, and 0.992, respectively.Conclusion:The decision tree predictive model based on multi-parameter MRI demonstrates high efficacy in diagnosing benign tumors, malignant epithelial tumors, and lymphoma of the parotid gland.
7.Clinical efficacy of hyaluronic acid injection solution combined with hyaluronic acid injection filler on rejuvenation of infraorbital region
Chinese Journal of Medical Aesthetics and Cosmetology 2024;30(4):382-386
Objective:To explore the clinical efficacy of hyaluronic acid injection solution combined with hyaluronic acid injection filler in the rejuvenation of infraorbital region.Methods:From June 2019 to September 2021, there were 6 males and 66 females, aged from 18 to 42 years, with the average 32 years, received a combination of hyaluronic acid injection solution and hyaluronic acid injection filler to improve the deformity of the infraorbital depression in Beijing Rongyi Medical Aesthetic Clinic. According to the classification of suborbital depression, there were 42 cases of gradeⅠ, 23 cases of gradeⅡ and 7 cases of grade Ⅲ. For grade Ⅰ patients, the tear trough and/or nasojugal groove were filled with sodium hyaluronate compound solution. For grade Ⅱ and Ⅲ patients, the tear trough and/or nasojugal groove were filled with sodium hyaluronate complex solution, and the mid-cheek groove and orpalpebromalar groove were filled with hyaluronic acid injection filler. Photographs were taken before treatment, 3 months and 6 months after treatment, and then subjective and objective assessments were performed.Results:All patients were followed up for 6 months after treatment, and the deformity of the infraorbital depression was significantly improved. The improvement score was 8.28±1.60 at 3 months and 6.36±1.13 at 6 months. The satisfaction score was 8.72±1.68 ( t=25.25, P<0.05) at 3 months and 7.00±2.03 ( t=13.71, P<0.05) at 6 months. The satisfaction rate was 94.4% at 3 months and 75% at 6 months after treatment, and there were no complications such as embolism, hematoma and displacement. Conclusions:Combining hyaluronic acid injection solution with hyaluronic acid injection filler is satisfactory for the treatment of infraorbital depression malformation.
8.Risk factors for postoperative complications Clavien-Dindo classification≥gradeⅡ after lung cancer surgery
Xiaoqing LIAO ; Zhang CHEN ; Wei DAI ; Xing WEI ; Yang3 PU ; Chao LIN ; Wenhong FENG ; Yuanqiang ZHANG ; Yunfei MU ; Rui ZHANG ; Shaohua XIE ; Xin WANG ; Qiuling SHI ; Qiang LI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2023;30(08):1151-1157
Objective To investigate the risk factors for postoperative complications Clavien-Dindo classification≥grade Ⅱ after lung cancer surgery. Methods The patients who underwent lung cancer surgery in a multicenter observational study from November 2017 to January 2020 were included. The Clavien-Dindo classification of postoperative complications was analyzed. Logistic regression was used to identify the risk factors for complications≥ gradeⅡ. Results A total of 388 patients were enrolled, including 203 males and 185 females with a mean age of 56.14±10.36 years. The incidence of postoperative complications was 25.52% (99/388) after lung cancer surgery and the incidence of complications≥gradeⅡ was 20.10% (78/388). The five most common postoperative complications were pneumonia (6.96%), prolonged pulmonary air leak (>7 days, 5.67%), incision dehiscence (4.64%), arrhythmia (3.87%), and postoperative pleural effusion (3.35%). Multivariate analysis showed that open surgery [reference: uniportal thoracoscopic surgery, OR=2.18, 95%CI (1.01, 4.70), P=0.047], extended resection [reference: sublobar resection, OR=2.86, 95%CI (1.11, 7.19), P=0.030; reference: lobectomy, OR=2.20, 95%CI (1.10, 4.40), P=0.026] and operative time≥3 h [OR=2.07, 95%CI (1.12, 3.85), P=0.021] were independent risk factors for postoperative complications≥gradeⅡ after lung cancer surgery. Conclusion Surgical approach, extent of resection and operative time are independent influencing factors for postoperative complications≥gradeⅡ after lung cancer surgery.
9.Analysis on molecular mechanism of Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus in the treatment of ovarian cancer based on network pharmacology and experimental verification
Jie ZHANG ; Xiaoqing GAO ; Hongjin WU ; Weiwei DAI ; Cong QI
International Journal of Traditional Chinese Medicine 2023;45(12):1532-1541
Objective:To study the main active components and potential mechanism of the treatment of ovarian cancer by Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus based on network pharmacology and in vitro cell experiments.Methods:TCMSP and SwissTargetPrediction databases were used to retrieve and collect the active components and targets of Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus, and four databases including GeneCards, OMIM, DrugBank and DisGeNET were used to search the targets related to ovarian cancer. After screening the common potential targets of Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus and ovarian cancer, the STRING database was used to realize the construction of PPI network interacting with the proteins of the two common targets. DAVID database was used for GO and KEGG enrichment analysis. Cytoscape 3.9.0 software was used to construct the "active component-target-pathway" network. Finally, the key targets and pathways were validated in vitro. MTT method was used to detect the proliferation inhibition rate of human ovarian cancer SKOV3 cells with different concentrations of Quercetin and sitosterol. Human ovarian cancer SKOV3 cells were divided into control group, Quercetin group and sitosterol group according to the random number table method. After corresponding drug intervention for 48 hours, the effects of Quercetin and sitosterol on SKOV3 cell cloning ability were detected by clone formation experiment, the levels of Akt1, VEGFA, Caspase-3 mRNA in each group were detected by PCR, and the protein expressions of PI3K, Akt, p-Akt, Caspase-3, and VEGFA in cells were detected by Western blot.Results:Through screening, 29 effective chemical components in Scutellariae Barbatae Herba and 3 effective chemical components in Cremastrae Pseudobulbus Pleiones Pseudobulbus were obtained, including 2 components in total. 291 drug-related targets, 1969 potential targets of ovarian cancer were acquired. There were 137 common targets of "Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus" and the drug-disease intersection of ovarian cancer. Through GO functional analysis, 930 items were obtained, involving 722 biological processes, 76 cellular components and 132 molecular functions. KEGG enrichment analysis involved 169 signaling pathways, including tumor pathway, PI3K-Akt signaling pathway, P-53 signaling pathway, IL-17 signaling pathway, etc. In vitro experiment results showed that cell proliferation inhibition rate increased and cell cloning ability decreased in Quercetin and sitosterol groups; The levels of Akt1 and VEGFA mRNA in Quercetin group and sitosterol group decreased ( P<0.01 or P<0.05), the expression of Caspase-3 mRNA and protein increased ( P<0.01), and the expressions of PI3K, p-Akt and VEGFA protein decreased ( P<0.01). Conclusion:Scutellariae Barbatae Herba - Cremastrae Pseudobulbus Pleiones Pseudobulbus inhibits the occurrence and development of ovarian cancer through multi target and multi pathway synergistic effects, and can induce SKOV3 cell apoptosis by regulating the expressions of key genes such as AKT1, VEGFA, Caspase-3, and PI3K/Akt pathway.
10.Clinical, muscle pathology and molecular genetic analysis of myofibrillar myopathy 3 associated with MYOT gene mutation
Guiguan YANG ; Xiaoqing LYU ; Wei LI ; Tingjun DAI ; Dandan ZHAO ; Chuanzhu YAN ; Pengfei LIN
Chinese Journal of Neurology 2023;56(12):1361-1370
Objective:To analyze the clinical phenotypic characteristics, muscle pathology, genetic mutations and related proteins of myofibrillar myopathy 3 caused by mutation in MYOT gene, and to conduct a literature review and summary of this disease. Methods:A retrospective analysis of the clinical phenotypic characteristics, muscle pathology and genetic test results of a patient with myofibrillar myopathy 3 caused by mutation in MYOT gene diagnosed in Qilu Hospital of Shandong University in December 2018 was conducted. Whole exon sequencing was applied to conduct high-throughput screening of pathogenic genes in the patient. After finding candidate pathogenic mutation, Sanger sequencing was applied to verify the mutation sites in the patient and family members. Meanwhile, functional verification was carried out on the mutation sites found in MYOT gene, and the relevant literature was reviewed. Results:The patient was a 47-year-old woman with weakness in her lower limbs for 8 years. Electromyography showed myogenic changes. The muscle pathology suggested that there was deposition of abnormal substances and rimmed vacuoles within some muscle fibers. Gene testing showed that the patient was a carrier of the MYOT gene c.170C>T (p.Thr57Ile) heterozygous mutation, and her son and daughter also carried the same mutation at the same site. The son of the patient had an elevated creatine kinase level and spontaneous potential was occasionally observed on electromyography, while the daughter had no abnormalities. Two younger brothers did not carry the mutation. Protein functional studies suggested that the mutation of MYOT gene c.170C>T mutation can lead to the change of partial spatial structure of myotilin, and the abnormal aggregation of p62 protein and myotilin was involved in the pathogenesis of the disease. Literature review revealed that c.170C>T (p.Thr57Ile) mutation has only been reported in foreign populations. This is the first detailed report on the clinical phenotype, muscle pathology and gene function of MYOT-related myofibrillar myopathy type 3 in China. Conclusions:The clinical manifestations of myofibrillar myopathy type 3 caused by MYOT gene mutation are heterogeneous, mainly manifested as muscle weakness in the distal or proximal extremities. Muscle pathology reveals abnormal protein deposits and rimmed vacuoles within some muscle fibers. Accurate diagnosis of the disease depends on gene detection. The co-localization of p62 protein and myotilin protein provides a new idea for the diagnosis and molecular mechanism research of the disease.

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