ObjectiveTo evaluate the effect and safety of Jiuxin Pill （救心丸） on exercise tolerance and quality of life in patients with stable angina pectoris （SAP）. MethodsA randomised， double-blind， placebo-controlled， multicentre study design was used to enroll 170 patients of SAP from nine centres， which were divided into 85 patients each in the trial group and control group with 1∶1 ratio. Both groups maintained the original western medicine treatment plan， and added Jiuxin Pill or placebo respectively， 2 pills （0.05 g） each time twicely for 28 days. The main outcomes were total exercise time （TED） in the exercise treadmill test and Seattle Angina Questionnaire （SAQ） scores including physical limitation （PL）， angina stability （AS）， angina frequency （AF）， treatment satisfaction （TS）， and disease perception （DP）. The secondary outcomes were exercise treadmill test indicators including heart rate recovery in 1 min （HRR1）， metabolic equivalents （METs）， maximum magnitude of ST-segment depression， and the Borg rating of perceived exertion scale， the average number of angina attacks per week， withdrawal and reduction rate of nitroglycerin， traditional Chinese medicine syndrome scores， incidence of major adverse cardiovascular events. Safety indicators were evaluated and the occurrence of adverse events during the trial was recorded. Data was collected before treatment， day 28±2 in treatment period， and follow-up at day 56 which is 28±2 days after treatment period finished. ResultsEighty-four and eighty-five patients respectively from trial group and control group were included to the full analysis set （FAS） and safety analysis set （SS）. Compared with the group before treatment and with the control group after treatment， the trial group had higher TED， HRR1， and METs， and lower maximum magnitude of ST-segment depression and Borg rating of perceived exertion scores after treatment （P＜0.01）. Compared with the group before treatment and with the control group after treatment and at follow-up， the total SAQ score and scores of AS， AF， TS and DP of the trial group after treatment and at follow-up elevated， while the average number of angina attacks per week and traditional Chinese medicine syndrome scores reduced （P＜0.01）. There was no statistically significant difference in the withdrawal and reduction rate of nitroglycerin between groups （P＞0.05）. Major adverse cardiovascular events occurred in 1 case （1/84， 1.19%） in the trial group and 1 case （1/85， 1.18%） in the control group， and the difference between groups was not statistically significant （P＞0.05）. A total of 3 cases of adverse events occurred in the trial group （3/84， 3.57%）， and a total of 6 cases of adverse events occurred in the control group （6/85， 7.06%）， and there was no statistically significant difference in the incidence of adverse events between groups （P＞0.05）. ConclusionIn the treatment of SAP， Jiuxin Pill combined with conventional western medicine can further enhance exercise tolerance， improve quality of life， and demonstrate great safety.

Objective:To analyze the influence of serological indexes on the liver cirrhosis (LC) in patients with chronic hepatitis B, and to construct a nomogram model.Methods:The clinical data of 220 patients with chronic hepatitis B in Xianning Central Hospital from January 2019 to December 2021 were retrospectively analyzed. Among them, 42 patients developed LC (LC group), and 178 cases did not develop LC (non-LC group). The patient′s fasting peripheral venous blood was taken in the morning. The platelet, red blood cell, white blood cell, fasting blood glucose, alanine aminotransferase (ALT), aspartate aminotransferase (AST), triacylglycerol (TG), total cholesterol (TC), total bilirubin (TBiL), albumin, globulin, alkaline phosphatase (ALP), γ-glutamyltransferase (GGT), prothrombin time (PT), thrombin time (TT), D-dimer (D-D), alpha-fetoprotein (AFP) and C-reactive protein (CRP) were detected. Receiver operating characteristic (ROC) curve was used to analyze the efficacy of each index in predicting LC in patients with chronic hepatitis B. Multivariate Logistic regression was used to analyze the independent risk factors for LC in patients with chronic hepatitis B. The R software "rms" package was used to construct a nomogram model to predict the LC in patients with chronic hepatitis B, the correction curve was used to internally verify the prediction model, and the decision curve evaluated the efficacy of the prediction model.Results:The TBiL, ALP, GGT, PT, TT, D-D, AFP and CRP in LC group were significantly higher than those in non-LC group: (50.57 ± 5.61) μmol/L vs. (46.69 ± 3.92) μmol/L, (105.23 ± 30.60) U/L vs. (75.14 ± 26.45) U/L, (68.73 ± 19.47) U/L vs. (50.39 ± 14.21) U/L, (13.88 ± 1.98) s vs. (13.01 ± 2.10) s, (18.88 ± 2.56) s vs. (15.98 ± 2.43) s, (2.62 ± 1.04) mg/L vs. (1.34 ± 0.63) mg/L, (4.19 ± 1.95) μg/L vs. (2.66 ± 1.21) μg/L and (8.54 ± 1.22) mg/L vs. (7.47 ± 0.79) mg/L, the platelet, ALT, AST and albumin were significantly lower than those in the non-LC group: (129.63 ± 32.66) × 10 9/L vs. (183.53 ± 56.31) ×10 9/L, (131.27 ± 22.19) U/L vs. (157.57 ± 38.67) U/L, (112.76 ± 19.57) U/L vs. (125.16 ± 21.84) U/L and (29.79 ± 6.17) g/L vs. (33.52 ± 5.89) g/L, and there were statistical differences ( P<0.01 or <0.05); there were no statistical differences in red blood cell, white blood cell, fasting blood glucose, TG, TC and globulin between the two groups ( P>0.05). ROC curve analysis result showed that the area under the curve (AUC) of AFP, platelet, ALT, AST, ALP, GGT, TBiL, albumin, D-D, CRP, PT and TT for predicting LC in patients with chronic hepatitis B were 0.731, 0.798, 0.723, 0.676, 0.766, 0.762, 0.710, 0.673, 0.856, 0.759, 0.603 and 0.786, and the optimal cut-off values were 4.64 μg/L, 162.56 × 10 9/L, 155.67 U/L, 122.37 U/L, 95.17 U/L, 68.96 U/L, 49.95 μmol/L, 28.8 g/L, 1.64 mg/L, 8.55 mg/L, 12 s and 18 s. Multivariate Logistic regression analysis result showed that AFP (>4.64 μg/L), platelet (≤162.56 × 10 9/L), ALP (>95.17 U/L), GGT (>68.96 U/L), D-D (>1.64 mg/L) and TT (>18 s) were independent risk factors for LC in patients with chronic hepatitis B ( OR = 1.278, 1.428, 1.488, 1.356, 1.513 and 1.369; 95% CI 1.109 to 1.369, 1.269 to 1.623, 1.217 to 1.894, 1.127 to 1.669, 1.342 to 1.878 and 1.169 to 1.583; P<0.05 or <0.01). The AFP, platelet, ALP, GGT, D-D and TT were used as predictors to construct a nomogram model for predicting the LC in patients with chronic hepatitis B. The correction curve of the nomogram model to predict the LC in patients with chronic hepatitis B was close to the ideal curve (C-index was 0.739, 95% CI 0.615 to 0.876); the decision curve analysis result showed that the prediction model had higher clinical net benefit when the risk threshold > 0.26 than a single index, and that it had significantly additional clinical net benefit. Conclusions:The AFP, platelets, ALP, GGT, D-D and TT are independent risk factors for LC in patients with chronic hepatitis B, and the nomogram model constructed based on these factors could provide important guidance for the prevention and treatment of LC in patients with chronic hepatitis B.

Objective : To investigate the effects of Lin28 overexpression on the proliferation and osteogenic differentiation of human dental pulp stem cells (hDPSCs) through mTOR signaling pathway. Methods : After transfecting lentiviral vectors of Lin28 gene in hDPSCs , the relative expression of Lin28 was detected by Real⁃time PCR. CCK⁃8 assay was applied to detect the effect on cell proliferation. qRT⁃PCR was used to research the expression levels of alkaline phosphatase (ALP) , osteopontin (OPN) and osteocalcin (OCN) . Western blot assay was processed to investigate the effects on the relative expression levels of ALP and OPN proteins. Alizarin red staining was utilized to detect the mineralized nodules. Results : Compared with the control group , the cell proliferation of transfection group was promoted (P < 0. 05) ; The mRNA and protein expression levels of ALP , OPN and OCN in transfection group were significantly lower than those in control group (P < 0. 05) , the expression level of ALP apparently decreased after the addition of mTOR inhibitor rapamycin (P < 0. 05) ; Alizarin red staining showed that the size and number of mineralized nodules formed in transfection group were markedly declined compared with empty carrier group (P < 0. 05) . Conclusion Overexpression of Lin28 can inhibit the osteogenic differentiation of hDP⁃ SCs through suppress mTOR signaling pathway.

Objective:To understand the relationship between the RNA shedding time of SARS-CoV-2 infected persons and the single nucleotide mutation of the virus, the population of infected persons, underlying diseases and other factors, so as to provide more clues for the study of SARS-CoV-2 infection dynamics.Methods:The data of epidemiology, clinical manifestations, and underlying diseases of infected persons in a cluster epidemic of COVID-19 in Jiangsu province from July to September 2021 were collected. Nasopharyngeal swab samples of cases were collected, and the whole genome of the virus was sequenced by second-generation sequencing technology. The online analysis platform was used to judge the virus type and analyze the mutation site, and Cox proportional risk model was used to analyze the relationship between the RNA shedding time of SARS-CoV-2 and various research factors.Results:There were 350 persons who finally obtained the whole genome sequence of the virus in this COVID-19 outbreak, of which 60.3% were female, the median age was 49 years old (interquartile range, IQR: 37-65 years old)), and the median time of virus shedding was 33 days ( IQR, 26-44 days). The whole-genome sequencing analysis showed that compared with the Wuhan reference strain sequence, the infected persons’ sequence had 34~41 nucleotide mutation sites, belonging to VOC/Delta variant (B.1.617.2 evolutionary branch), and C346T, C1060T, T2803C, T7513C, A29681C were the main single nucleotide polymorphisms (SNPs) of this epidemic. Cox regression analysis showed that age, underlying disease, clinical classification, vaccination, SNP T2803C and T7513C had an impact on the RNA shedding time of SARS-CoV-2. The adjusted multivariate Cox regression result showed that age [ HR=0.73, 95% CI (0.55, 0.95)] and T7513C [ HR=0.37, 95% CI (0.18, 0.77)] were still the risk factors for the extension of SARS-CoV-2 RNA shedding time. Conclusions:This study analyzed the effects of the individual factors and viral single nucleotide variations on the time of viral RNA shedding. Those who were older, suffered from hypertension, had more severe clinical symptoms, were not vaccinated or incompletely vaccinated, and had T7513C mutation in the infected virus, had a risk of a long RNA shedding time of SARS-CoV-2, which should be given special attention and follow-up after rehabilitation.

Objective:To investigate the safety and efficacy of total pelvic exenteration (TPE) for treating late complications of radiation-induced pelvic injury.Methods:This was a descriptive case series study. The inclusion criteria were as follows: (1) confirmed radiation-induced pelvic injury after radiotherapy for pelvic malignancies; (2) late complications of radiation-induced pelvic injury, such as bleeding, perforation, fistula, and obstruction, involving multiple pelvic organs; (3) TPE recommended by a multidisciplinary team; (4) patient in good preoperative condition and considered fit enough to tolerate TPE; and (5) patient extremely willing to undergo the procedure and accept the associated risks. The exclusion criteria were as follows: (1) preoperative or intraoperative diagnosis of tumor recurrence or metastasis; (2) had only undergone diversion or bypass surgery after laparoscopic exploration; and (3) incomplete medical records. Clinical and follow-up data of patients who had undergone TPE for late complications of radiation-induced pelvic injury between March 2020 and September 2022 at the Sixth Affiliated Hospital of Sun Yat-sen University were analyzed. Perioperative recovery, postoperative complications, perioperative deaths, and quality of life 1 year postoperatively were recorded.Results:The study cohort comprised 14 women, nine of whom had recto-vagino-vesical fistulas, two vesicovaginal fistulas, one ileo-vesical fistula and rectal necrosis, one ileo-vesical and rectovaginal fistulas, and one rectal ulcer and bilateral ureteral stenosis. The mean duration of surgery was 592.1±167.6 minutes and the median blood loss 550 (100–6000) mL. Ten patients underwent intestinal reconstruction, and four the Hartmann procedure. Ten patients underwent urinary reconstruction using Bricker's procedure and 7 underwent pelvic floor reconstruction. The mean postoperative hospital stay was 23.6±14.9 days. Seven patients (7/14) had serious postoperative complications (Clavien-Dindo IIIa to IVb), including surgical site infections in eight, abdominopelvic abscesses in five, pulmonary infections in five, intestinal obstruction in four, and urinary leakage in two. Empty pelvis syndrome (EPS) was diagnosed in five patients, none of whom had undergone pelvic floor reconstruction. Five of the seven patients who had not undergone pelvic floor reconstruction developed EPS, compared with none of those who had undergone pelvic floor reconstruction. One patient with EPS underwent reoperation because of a pelvic abscess, pelvic hemorrhage, and intestinal obstruction. There were no perioperative deaths. During 18.9±10.1 months of follow-up, three patients died, two of renal failure, which was a preoperative comorbidity, and one of COVID-19. The remaining patients had gradual and significant relief of symptoms during follow-up. QLQ-C30 assessment of postoperative quality of life showed gradual improvement in all functional domains and general health at 1, 3, and 6 months postoperatively (all P<0.05). Conclusions:TPE is a feasible procedure for treating late complications of radiation-induced pelvic injury combined with complex pelvic fistulas. TPE is effective in alleviating symptoms and improving quality of life. However, the indications for this procedure should be strictly controlled and the surgery carried out only by experienced surgeons.

Objective:To investigate the safety and efficacy of total pelvic exenteration (TPE) for treating late complications of radiation-induced pelvic injury.Methods:This was a descriptive case series study. The inclusion criteria were as follows: (1) confirmed radiation-induced pelvic injury after radiotherapy for pelvic malignancies; (2) late complications of radiation-induced pelvic injury, such as bleeding, perforation, fistula, and obstruction, involving multiple pelvic organs; (3) TPE recommended by a multidisciplinary team; (4) patient in good preoperative condition and considered fit enough to tolerate TPE; and (5) patient extremely willing to undergo the procedure and accept the associated risks. The exclusion criteria were as follows: (1) preoperative or intraoperative diagnosis of tumor recurrence or metastasis; (2) had only undergone diversion or bypass surgery after laparoscopic exploration; and (3) incomplete medical records. Clinical and follow-up data of patients who had undergone TPE for late complications of radiation-induced pelvic injury between March 2020 and September 2022 at the Sixth Affiliated Hospital of Sun Yat-sen University were analyzed. Perioperative recovery, postoperative complications, perioperative deaths, and quality of life 1 year postoperatively were recorded.Results:The study cohort comprised 14 women, nine of whom had recto-vagino-vesical fistulas, two vesicovaginal fistulas, one ileo-vesical fistula and rectal necrosis, one ileo-vesical and rectovaginal fistulas, and one rectal ulcer and bilateral ureteral stenosis. The mean duration of surgery was 592.1±167.6 minutes and the median blood loss 550 (100–6000) mL. Ten patients underwent intestinal reconstruction, and four the Hartmann procedure. Ten patients underwent urinary reconstruction using Bricker's procedure and 7 underwent pelvic floor reconstruction. The mean postoperative hospital stay was 23.6±14.9 days. Seven patients (7/14) had serious postoperative complications (Clavien-Dindo IIIa to IVb), including surgical site infections in eight, abdominopelvic abscesses in five, pulmonary infections in five, intestinal obstruction in four, and urinary leakage in two. Empty pelvis syndrome (EPS) was diagnosed in five patients, none of whom had undergone pelvic floor reconstruction. Five of the seven patients who had not undergone pelvic floor reconstruction developed EPS, compared with none of those who had undergone pelvic floor reconstruction. One patient with EPS underwent reoperation because of a pelvic abscess, pelvic hemorrhage, and intestinal obstruction. There were no perioperative deaths. During 18.9±10.1 months of follow-up, three patients died, two of renal failure, which was a preoperative comorbidity, and one of COVID-19. The remaining patients had gradual and significant relief of symptoms during follow-up. QLQ-C30 assessment of postoperative quality of life showed gradual improvement in all functional domains and general health at 1, 3, and 6 months postoperatively (all P<0.05). Conclusions:TPE is a feasible procedure for treating late complications of radiation-induced pelvic injury combined with complex pelvic fistulas. TPE is effective in alleviating symptoms and improving quality of life. However, the indications for this procedure should be strictly controlled and the surgery carried out only by experienced surgeons.

Objective:To investigate the status quo and related issues of reception of pediatric patients by general practitioners in community health centers in Longhua District of Shenzhen through qualitative and quantitative studies.Methods:In qualitative study, 10 general practitioners (GPs) from community health centers in Longhua District of Shenzhen were selected by the purpose sampling method for personal in-depth interviews. The interview contents were recorded and transcribed, then coded by Nvivo software. Theme frame analysis method was used for data sorting and theme extraction. Based on the results of qualitative interviews, the questionnaire was developed and distributed through the electronic questionnaire platform. The contents of the questionnaire included general information, the situation of pediatric patient reception in community health centers, the willingness and ability of GPs to receive children, the existing problems and the measures to promote receiving pediatric patients in community health centers.Results:The results of personal in-depth interviews with 10 GPs showed that the obtained information reached saturation. Through repeated reading, induction and analysis of the interview data, four themes were extracted: ① GPs in community health centers received a large number of pediatric outpatients with common diseases; ② GPs in community health centers are willing to receive child patients, but they were lack of ability; ③ there were many problems of pediatric patients reception in community health centers; ④ training and incentive policies would help to promote child patient reception in community health centers. A total of 223 electronic questionnaires were collected, 219 of which were valid for analysis. All the community health centers in Longhua District received pediatric patients, the number accounted for 20%-60% of the total outpatients; 84.5%(185/219)of the responders were willing to receive child patients, 65.8% (144/219)of them assumed that the consulting ability was average. The main problems for GPs to receive pediatric patients were "insufficient training" (76.7%,168/219) and "lack of consulting ability" (55.3%,121/219). The important measures to promote GPs to receive child patients were to improve their own clinical competence (94.1%,206/219), to have clinical faculty with pediatric background mentoring at the community health center (74.9%,164/219), to improve the supporting facilities (42.9%,94/219) and continuous professional support (38.8%,85/219).Conclusion:The status quo of pediatric patient reception in the community of Shenzhen Longhua District is generally satisfactory. The main problems in this aspect are insufficient training for general practitioners and lack of clinical competence, which should be strengthened and improved in the future.

Objective:To investigate the effect of preoperative hemoglobin (Hb) level on the risk of developing acute kidney injury (AKI) after percutaneous coronary intervention (PCI) in patients with acute myocardial infarction (AMI).Methods:A retrospective study was conducted. The hospitalized patients diagnosed with AMI who underwent PCI from May 2015 to May 2020 in the department of cardiology in the Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University were enrolled. According to the serum creatinine (SCr) level before and after interventional therapy, the patients were divided into an AKI group and a non-AKI group. The difference in patients' Hb levels between the AKI and non-AKI groups was compared. Univariate and multivariate Logistic regression analyses were used to analyze the effects of Hb levels on the risk of AKI after interventional therapy in patients with AMI. Kaplan-Meier survival curve was used to evaluate the effects of Hb levels on patients with AMI in all-cause death in the hospital.Results:A total of 922 AMI patients were enrolled in this study, of which 165 patients (17.9%) developed AKI. Compared with the non-AKI group, female patients in the AKI group had a higher proportion [35.8% (59/165) vs. 26.9% (204/757)], older (age: 69.78±14.56 vs. 66.61±13.44), with a lower rate of smoking [42.4% (70/165) vs. 51.7% (391/757)] and a higher prevalence of hypertension [73.3% (121/165) vs. 63.5% (481/757)], however, the patients in AKI group also had a worse cardiac function [the proportion of Killip grade 3 or above was higher: 33.9% (56/165) vs. 13.9% (105/757)], lower Hb level (g/L: 127.61±22.18 vs. 132.79±19.45), and there were less patients using angiotensin converting enzyme inhibitor/angiotensin Ⅱreceptor blocker [ACEI/ARB, 60.0% (99/165) vs. 74.5% (564/757)] and more patients using diuretics [24.8% (41/165) vs. 17.7% (134/757)] in AKI group, the differences were statistically significant (all P < 0.05). Compared with non-AKI group, patients in AKI group had a longer operation time [operation time > 60 minutes: 4.2% (7/165) vs. 1.5% (11/757)] and received more contrast media during the operative procedure [contrast media > 100 mL: 16.4% (27/165) vs. 3.6% (27/757)], the individuals had a higher rate of intra-operative hypotension [16.4% (27/165) vs. 8.2% (62/757)], and more patients were implanted more than 2 stents [8.5% (14/165) vs. 3.6% (27/757), all P < 0.05]. Univariate Logistic regression analysis suggested that each 1 g/L increase in preoperative Hb level was associated with a 1.2% decrease in the risk of postoperative AKI [odds ratio ( OR) = 0.988, 95% confidence interval (95% CI) was 0.980-0.996, P = 0.003]. Meanwhile, for every 1 standard deviation increase in preoperative Hb level, the risk of postoperative AKI decreased by 22.1% ( OR = 0.779, 95% CI was 0.661-0.918, P = 0.003). The patients were divided into low, medium and high concentration groups according to Hb levels (Hb levels were < 110 g/L, 110-150 g/L, ≥ 150 g/L, respectively), and multivariate Logistic regression analysis showed that the risk of AKI was significantly reduced in the high concentration group compared with that in the low concentration group ( OR = 0.463, 95% CI was 0.241-0.888, P = 0.020). The Kaplan-Meier survival curve analysis indicated that the short term survival after coronary intervention in AMI patients with low Hb concentration was significantly lower than that in patients with medium and high Hb concentration (Log-Rank: χ2= 23.215, P < 0.001). Conclusions:Preoperative lower Hb level is an independent risk factor for postoperative AKI in AMI patients. AMI patients with lower Hb levels have an increased risk of all-cause mortality within 1 month after AMI.

Objective:To investigate the pediatricians' needs in the contents of continuing medical education (CME), and the influencing factors of participating in CME, so as to provide references for improving their vocational ability.Methods:Questionnaire survey was carried out for the pediatricians from county-level medical institutions in the nine provinces of China. The questionnaire contents included: basic information, CME contents needs, and influencing factors of participating in CME. SPSS 22.0 was used for chi-square test.Results:A total of 465 questionnaires was recovered, among which 463 were qualified, with a pass rate of 99.6%. Research showed that ① In terms of competency training needs, pediatricians had higher training demand for ability of diagnosis and treatment of children's diseases, pediatrics basic skills and skills related to children's health care, etc. Pediatricians with junior or intermediate title had higher training demand for ability of self-learning and access to learning resources ( P < 0.01); and pediatricians with senior title had higher training demand for teaching ability ( P < 0.05). ② In terms of pediatrics specialty content training needs, pediatricians had higher demand for neonatology, infectious, respiratory, critical medicine, developmental behavior and digestion in order. ③ Regarding the influencing factors of CME, too few opportunities to participate in training, too busy to have time to participate, and defects in curriculum arrangement were the main factors affecting the CME participation of pediatricians. Conclusion:Pediatricians with different professional title had different training needs for CME contents. Lack of CME resources, contradiction between work and study, and curriculum arrangement deficiencies might be the main influencing factors affecting the CME participation of pediatricians working at county-level medical institutions.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.