1.Research progress in changes of intestinal flora after spinal cord injury and their effects on spinal neuroinflammation
Haixia CHEN ; Hongru LI ; Jingyi LIU ; Zhifang XU ; Shuwen LIU ; Yuan YANG ; Yang CHEN ; Yu LUO ; Yinjie CUI
Journal of Jilin University(Medicine Edition) 2024;50(6):1751-1756
		                        		
		                        			
		                        			The gut microbiota is a vast microbial ecosystem,specifically present in the organism and plays an important regulatory role in the body's health or disease state together with its metabolites.After spinal cord injury,the complex pathophysiology at the site of trauma makes axonal regeneration difficult,and the autonomic motor dysfunction induced by spinal cord injury disrupts gastrointestinal function and causes gut microbiota imbalance.The previous clinical outcomes of neurorepair strategies after spinal cord injury have not been ideal.The dysregulated gut microbiota and neuroinflammation after spinal cord injury are closely associated with the prognosis of the patients.The potential mechanisms by which the gut microbiota may influence the neuroinflammation after spinal cord injury may include the activation of gut-associated lymphoid tissue and disruption of the intestinal barrier by the imbalanced microbiota,and gut microbiota and its metabolites such as lipopolysaccharides(LPS),short chain fatty acids(SCFAs),5-hydroxytryptamine(5-HT),and tryptophan,as well as immune cells,inflammatory factors,and neurotransmitters the local inflammatory response in the spinal cord through the circulatory system.This paper revews the studies on the changes in gut microbiota after spinal cord injury and their effects on the spinal cord neuroinflammation,providing new targets and new ideas for improving the neuroinflammation after spinal cord injury.
		                        		
		                        		
		                        		
		                        	
2.Electroacupuncture improves gastrointestinal dyskinesia in rats with functional dyspepsia via PLC/IP3 pathway
Deqian YANG ; Qi CHEN ; Shuwen JIN ; Paidi XU
The Journal of Practical Medicine 2024;40(16):2284-2290
		                        		
		                        			
		                        			Objective This study aims to determine whether electroacupuncture regulates the phospholipase C(PLC)/inositol-1,4,5-trisphosphate(PLC/IP3)pathway in platelet-derived growth factor receptor α-positive(PDGFRα+)cells,thereby improving gastrointestinal motility disorders in functional dyspepsia(FD).Methods 40 SD rats were randomly divided into blank group,model group,electroacupuncture group,U73122(PLC inhibitor)group,and U73122+electroacupuncture group,with 8 rats in each group.Except for the blank group,all rats were subjected to multi-factor stress intervention to establish the FD model.After successful modeling,the U73122 group was given intraperitoneal injection of inhibitor,the electroacupuncture group was acupunctured at Zusanli and Taichong points,and the U73122+electroacupuncture group was injected with inhibitor 2 hours before acupunc-ture.Ten days later,gastrointestinal motility was tested;immunoblotting was used to detect the protein expression levels of PDGFRα,PLC,P-PLC,IP3;immunofluorescence was used to detect the average fluorescence density and co-localization expression of PDGFRα and PLC,IP3;electron microscope was used to observe the gap junction(GJ)situation in the gastric antrum area.Results After modeling,the gastrointestinal motility of rats was weakened,the protein expression levels of PDGFRα,PLC,and IP3 were significantly reduced,GJ widened,and cell morphol-ogy changed;compared with the model group,the gastrointestinal motility of rats in the electroacupuncture group,U73122 group,and U73122+electroacupuncture group was significantly improved,the expression levels of PDGFRα,PLC,P-PLC,IP3 increased,GJ was slightly tight,and cell morphology recovered;there was no significant difference in the expression levels of PDGFRα,PLC,P-PLC,IP3 in the gastric antrum of U73122 group and U73122+electroacupuncture group;PDGFRα,PLC,and IP3 had fluorescence co-localization.Conclusion Electroacupuncture can improve gastrointestinal dyskinesia in FD rats by activating the PLC/IP3 pathway in PDGFRα+cells.
		                        		
		                        		
		                        		
		                        	
3.Factors influencing pulmonary infection in elderly neurocritical patients and their predictive values: a data analysis for consecutive four-year
Jia YUAN ; Ying LIU ; Di LIU ; Difen WANG ; Feng SHEN ; Xu LIU ; Shuwen LI ; Dehua HE
Chinese Critical Care Medicine 2023;35(1):66-70
		                        		
		                        			
		                        			Objective:To analyze the factors influencing pulmonary infections in elderly neurocritical patients in the intensive care unit (ICU) and to explore the predictive value of risk factors for pulmonary infections.Methods:The clinical data of 713 elderly neurocritical patients [age ≥ 65 years, Glasgow coma score (GCS) ≤ 12 points] admitted to the department of critical care medicine of the Affiliated Hospital of Guizhou Medical University from 1 January 2016 to 31 December 2019 were retrospectively analyzed. According to whether or not they had HAP, the elderly neurocritical patients were divided into hospital-acquired pneumonia (HAP) group and non-HAP group. The differences in baseline data, medication and treatment, and outcome indicators between the two groups were compared. Logistic regression analysis was used to analyze the factors influencing the occurrence of pulmonary infection.The receiver operator characteristic curve (ROC curve) was plotted for risk factors and a predictive model was constructed to evaluate the predictive value for pulmonary infection.Results:A total of 341 patients were enrolled in the analysis, including 164 non-HAP patients and 177 HAP patients. The incidence of HAP was 51.91%. According to univariate analysis, compared with the non-HAP group, mechanical ventilation time, the length of ICU stay and total hospitalization in the HAP group were significantly longer [mechanical ventilation time (hours): 171.00 (95.00, 273.00) vs. 60.17 (24.50, 120.75), the length of ICU stay (hours): 263.50 (160.00, 409.00) vs. 114.00 (77.05, 187.50), total hospitalization (days): 29.00 (13.50, 39.50) vs. 27.00 (11.00, 29.50), all P < 0.01], the proportion of open airway, diabetes, proton pump inhibitor (PPI), sedative, blood transfusion, glucocorticoids, and GCS ≤ 8 points were significantly increased than those in HAP group [open airway: 95.5% vs. 71.3%, diabetes: 42.9% vs. 21.3%, PPI: 76.3% vs. 63.4%, sedative: 93.8% vs. 78.7%, blood transfusion: 57.1% vs. 29.9%, glucocorticoids: 19.2% vs. 4.3%, GCS ≤ 8 points: 83.6% vs. 57.9%, all P < 0.05], prealbumin (PA) and lymphocyte count (LYM) decreased significantly [PA (g/L): 125.28±47.46 vs. 158.57±54.12, LYM (×10 9/L): 0.79 (0.52, 1.23) vs. 1.05 (0.66, 1.57), both P < 0.01]. Logistic regression analysis showed that open airway, diabetes, blood transfusion, glucocorticoids and GCS ≤ 8 points were independent risk factors for pulmonary infection in elderly neurocritical patients [open airway: odds ratio ( OR) = 6.522, 95% confidence interval (95% CI) was 2.369-17.961; diabetes: OR = 3.917, 95% CI was 2.099-7.309; blood transfusion: OR = 2.730, 95% CI was 1.526-4.883; glucocorticoids: OR = 6.609, 95% CI was 2.273-19.215; GCS ≤ 8 points: OR = 4.191, 95% CI was 2.198-7.991, all P < 0.01], and LYM, PA were the protective factors for pulmonary infection in elderly neurocritical patients (LYM: OR = 0.508, 95% CI was 0.345-0.748; PA: OR = 0.988, 95% CI was 0.982-0.994, both P < 0.01). ROC curve analysis showed that the area under the ROC curve (AUC) for predicting HAP using the above risk factors was 0.812 (95% CI was 0.767-0.857, P < 0.001), with a sensitivity of 72.3% and a specificity of 78.7%. Conclusions:Open airway, diabetes, glucocorticoids, blood transfusion, GCS ≤ 8 points are independent risk factors for pulmonary infection in elderly neurocritical patients. The prediction model constructed by the above mentioned risk factors has certain predictive value for the occurrence of pulmonary infection in elderly neurocritical patients.
		                        		
		                        		
		                        		
		                        	
4.Clinical value of helium-free magnetocardiography in diagnosis of coronary heart disease
Feng XU ; Chenchen TU ; Shuwen YANG ; Ming DING ; Bin CAI ; Huan ZHANG ; Linqi LIU ; Xueyao YANG ; Shu ZHOU ; Zhao MA ; Xiantao SONG ; Hongjia ZHANG
Chinese Journal of General Practitioners 2023;22(11):1159-1166
		                        		
		                        			
		                        			Objective:To assess the clinical value of helium-free magnetocardiography(MCG) in the diagnosis of coronary artery disease(CAD).Methods:A total of 213 patients with suspected CAD undergoing MCG in Beijing Anzhen Hospital were enrolled in the study. All patients underwent coronary CT angiography/invasive coronary angiography(CCTA/ICA) within 48 hours after MCG scanning. The parameters of MCG, including magnetic field multipolarization, magnetic field unipolarization, T-wave flattened, change in magnetic field distribution at TT segment, abnormal T-peak amplitude ration of maximum to minimum, significant movement of poles, magnetic field angle deviation and abnormal distribution of positive pole were used for the evaluation of the stenosis of coronary arteries.Results:Among 213 patients, MCG scanning was completed in 193 cases(90.6%), while 20 cases were excluded for various reasons. The CCTA/ICA results were taken as gold standard, the total coincidence rate of MCG with the degree of stenosis was 88.60%(95% CI: 83.25%-92.72%), the sensitivity and specificity of MCG in the diagnosis of CAD was 89.63%(95% CI: 83.21%-94.21%) and 88.23%(95% CI:78.12%-94.78%), respectively; the positive and negative predictive value were 93.80%(95% CI:88.72%-96.68%) and 81.08%(95% CI:72.15%-87.64%), respectively. Conclusion:MCG is highly accurate in the diagnosis of CAD, it may be widely used clinically as an non-invasive method free of radiation or contrast agent.
		                        		
		                        		
		                        		
		                        	
5.Comparison of four frailty assessment tools in preoperative assessment of elderly colorectal cancer patients
Jiawei FAN ; Ying WANG ; Xiaoqing SHI ; Shuwen QIN ; Lifen MAO ; Yaling XU ; Jianhua YIN
Chinese Journal of Modern Nursing 2023;29(20):2743-2749
		                        		
		                        			
		                        			Objective:To compare the consistency of preoperative frailty assessment in elderly colorectal cancer patients using Frailty Phenotype (FP), FRAIL Scale (FS), Clinical Frailty Scale (CFS), and Edmonton Frailty Scale (EFS), and their predictive performance in predicting the postoperative complication, so as to provide reference for nurses to choose appropriate frailty assessment tools.Methods:From December 2020 to October 2021, 207 elderly patients who underwent radical surgery for colorectal cancer at the General Surgery of the First Affiliated Hospital of Soochow University were selected as the study subject by convenience sampling. FP, FS, CFS, and EFS were used to assess patients' frailty. Taking postoperative complications as the outcome indicator, the predictive performance of four frailty assessment tools was compared using the receiver operating characteristic (ROC) curve and Bayes discriminant analysis.Results:The frailty detection rates of FP, FS, CFS, and EFS in 207 elderly colorectal cancer patients were 19.8% (41/207), 11.6% (24/207), 22.2% (46/207), and 10.1% (21/207), respectively. The areas under the ROC curves of FP, FS, CFS, and EFS were 0.714, 0.643, 0.737, and 0.665, respectively, with statistically significant differences (all P<0.01). Pairwise comparison found that there were statistically significant differences in the area under the ROC curve between FP and FS, FS and CFS, CFS and EFS ( P<0.05). The cross validation accuracy of FP, FS, CFS and EFS in predicting the postoperative complication in elderly colorectal cancer patients was 78.7%, 68.6%, 76.3%, and 75.8%, respectively. Conclusions:FP and CFS have moderate predictive performance for postoperative complications in elderly colorectal cancer patients, and there is no difference in predictive performance between the two. Both CFS and FP can be used for the assessment of preoperative frailty in elderly colorectal cancer patients, but considering clinical applicability, CFS is recommended.
		                        		
		                        		
		                        		
		                        	
6.Lung ultrasound for the diagnosis of pneumonia in children in recent 5 years: a meta-analysis
Ningxin LUO ; Wanru CAI ; Hui XIA ; Yazhen XU ; Shuwen ZHONG ; Li ZHAO
Chinese Pediatric Emergency Medicine 2022;29(4):301-306
		                        		
		                        			
		                        			Objective:To assess the accuracy of lung ultrasound(LUS) to predict pneumonia in pediatric patients using meta-analysis.Methods:The PubMed, the Cochrane Library, EMbase databases from January 2015 to March 2020 were searched.The retrieved outcome data to evaluate the efficacy of LUS for the diagnosis of pneumonia in patients under 18 years of age were included.Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies.Meta-analysis was then conducted using MetaDisc 1.4, RevMan 5.3 and Stata 15.0 softwares.Results:Twelve diagnostic studies were included, which involved 2 484 patients.The results of meta-analysis showed that compared with the gold standard, the sensitivity, specificity, positive and negative likelihood ratios, diagnostic odds ratio of LUS were 0.90(95% CI 0.88-0.91), 0.88(95% CI 0.85-0.90), 8.64(95% CI 3.79-19.72), 0.12(95% CI 0.06-0.26) and 77.58(95% CI 28.39-211.99), respectively.The area under the summary receiver operating characteri stic curve was 0.96.Subgroup analysis showed that there was no difference in LUS′s diagnostic accuracy for pneumonia with different department, different diagnostic gold standard, and different level of sonographer training. Conclusion:Current evidence shows that LUS has a high accuracy in the diagnosis of pneumonia in children.
		                        		
		                        		
		                        		
		                        	
7.Effects of electroacupuncture at Zusanli on duodenal Caspase-1 and GSDMD of rats with functional dyspepsia
Jiabao LIU ; Shuwen JIN ; Zhaoxia KANG ; Yiming LIU ; Li ZHOU ; Feng SHEN ; Paidi XU ; Hongxing ZHANG ; Xiaoli PAN
Chinese Journal of Physical Medicine and Rehabilitation 2022;44(12):1057-1063
		                        		
		                        			
		                        			Objective:To explore any effect of electroacupuncture (EA) at the Zusanli point on the scorch death of duodenal cells in rats with functional dyspepsia (FD) and possible mechanisms.Methods:Twenty-four 7-day-old Sprague-Dawley rats were randomly divided into a blank group, a model group and an EA group, each of 8. FD was induced in both the model and EA group rats using iodoacetamide gavage with tail-clip stimulation. After successful modeling the EA group was given acupuncture at the Zusanli point and then connected with a Korean acupuncture point nerve stimulator for 2 weeks. The other 2 groups were not given any intervention. The rats′ body weight was recorded before and after the modeling, as well as 7 and 14 days later. The gastric emptying rate and the small intestine propulsion rate of the three groups were detected right after the EA intervention, and the serum expression levels of interleukin-1β (IL-1β) and interleukin-6 (IL-6) were measured using enzyme-linked immunoassays. Real-time fluorescence quantitative polymerase chain reactions were used to detect the transcription levels of IL-1β and IL-6 in the rats′ duodenums, while western blotting was employed to assess the expression of caspase-1 P20 and dermatin D (GSDMD) in their duodenums.Results:After successful modeling, the average body weight of the rats in the model and EA groups was significantly different from that in blank group, and after 7 and 14 days the average body weight of the former groups was significantly different from that of the blank group, with significant differences between the two groups as well. After the EA intervention significant differences were observed in gastric reside and small intestine propulsion rate between the EA group and the model group, as well as between the model and the blank group. After the intervention, there were significant differences between the blank group and the other two groups in the average expression of IL-1β and IL-6 in serum, IL-1β and IL-6 mRNA in the duodenum, as well as the GSDMD and caspase-1 p20 proteins in the duodenum. There were significant differences between the model and EA groups in all of the above measurements.Conclusions:EA at the Zusanli point can significantly reduce the level of scorch death in the duodenum of FD rats, as well as relieve low-grade duodenal inflammation and the clinical symptoms of FD. Its mechanism may be related to the down-regulation of the expression of caspase-1 P20 and GSDMD-N protein, and of inflammatory factors such as IL-1β and IL-6, relieving low-grade duodenal inflammation.
		                        		
		                        		
		                        		
		                        	
8.Investigation on influenza vaccination status of household registration chronic disease management patients in Qingpu district
Kaiyou YE ; Yuheng WANG ; Siyuan WANG ; Sen WANG ; Wenjiang ZHONG ; Huifen YANG ; Shuwen WANG ; Zhouli WU ; Minna CHENG ; Ruifang XU ; Jinjiang ZHAO ; Na WANG
Chinese Journal of Microbiology and Immunology 2021;41(7):555-559
		                        		
		                        			
		                        			Objective:To analyze the influenza vaccination status of chronic disease management patients in Qingpu district of Shanghai and the vaccination characteristics of different characteristic populations, so as to provide scientific basis for improving the influenza vaccination rate of chronic disease patients in the community.Methods:By comparing the data of Shanghai chronic disease management information system, immunization planning information system and medical association platform, 89 453 subjects who met the inclusion and exclusion criteria in Qingpu district were selected as the research objects. The vaccination coverage rate of the study subjects was calculated according to gender, age group, urban and rural distribution, occupation, chronic disease type and quantity, and the vaccination coverage rate of different subgroups was compared to analyze the influencing factors of vaccination coverage rate.Results:Most of the 89 453 patients with chronic diseases were 60 years old and above (71.93%). Patients with hypertension, diabetes, chronic obstructive pulmoriary disease (COPD) and three chronic diseases accounted for 87.12%, 28.67%, 8.71% and 1.83%, respectively. Influenza vaccination coverage in the 2016/2017 flu season was low, at 0.32%. Influenza vaccination coverage rate of women (0.37%) was higher than that of men (0.27%), which was 1.41 times respectively(95% CI: 1.16, 1.72) that of men patients. The coverage rate of influenza vaccination for the 70-79 year-old group was the highest (0.74%), which was 1.74 times respectively(95% CI: 1.39, 2.19) that of 60-69 year-old patients. The vaccination coverage rate of government departments and institutions was the highest (1.14%), which was 12.58 times respectively(95% CI: 4.52, 34.99) that of retirees. The vaccination rate of COPD patients (3.68%) was 2.50 times (95% CI: 1.66, 3.77) higher than that of patients without COPD.Conclusions:Influenza vaccination rate for chronic disease management patients in Qingpu district of Shanghai is low. Gender, occupation, age and types of chronic diseases are the influencing factors. Patients with chronic disease management should be included in the priority vaccination targets for influenza vaccines, and vaccination intervention for occupational chronic diseases such as non-retired agriculture and forestry patients, especially male patients, should be strengthened to improve influenza vaccination coverage rate.
		                        		
		                        		
		                        		
		                        	
9.Risk factors for death in elderly patients admitted to intensive care unit after elective abdominal surgery: a consecutive 5-year retrospective study
Shuwen LI ; Tianhui HE ; Feng SHEN ; Difen WANG ; Xu LIU ; Jingcheng QIN ; Chuan XIAO ; Wei LI ; Qing LI ; Daixiu GAO
Chinese Critical Care Medicine 2021;33(12):1453-1458
		                        		
		                        			
		                        			Objective:To investigate the risk factors that were associated with the death of elderly patients who were admitted to the intensive care unit (ICU) after elective abdominal surgery, and to find reliable and sensitive predictive indicators for early interventions and reducing the mortality.Methods:A retrospective case-control study was conducted. The clinical data of elderly (age≥65 years old) patients after elective abdominal surgery admitted to the ICU of the Affiliated Hospital of Guizhou Medical University from January 1st 2016 to December 31st 2020 were collected, including the patient's gender, age, body mass index (BMI), medical history, American Society of Anesthesiologists (ASA) grades, surgical classification, intraoperative blood loss, duration of operation, interval time between end of operation and admission to the ICU, acute physiology and chronic health evaluationⅡ(APACHEⅡ) score and the worst laboratory examination results within 24 hours of ICU admission, the first blood gas analysis in ICU, the duration of invasive mechanical ventilation, and the length of ICU stay. Postoperative abdominal infection was evaluated by the pathogenic culture of peritoneal drainage fluid and clinical symptoms and signs. The patients were divided into death group and survival group based on clinical outcomes, and clinical data were compared between the two groups. Binary multivariate Logistic regression analysis was used to screen the risk factors of death, and the receiver operator characteristic curve (ROC curve) was plotted to analyze the predictive values of these risk factors.Results:A total of 226 elderly patients with elective abdominal surgery were admitted to the ICU of our hospital during the past 5 years, of whom, two patients who did not undergo laboratory examinations within 24 hours of admission to the ICU were excluded. Finally, 224 patients met the criteria, with 158 survivors and 66 deaths. Univariate analysis showed that: compared with survival group, APACHEⅡscore, blood lactate acid (Lac) and the proportion of postoperative abdominal infection were higher in death group [APACHEⅡ score: 27.5 (25.0, 31.3) vs. 23.0 (18.0, 27.0), Lac (mmol/L): 2.9 (1.8, 6.6) vs. 1.8 (1.1, 2.8), the proportion of postoperative abdominal infection: 65.2% (43/66) vs. 35.4% (56/158), all P < 0.01], prothrombin time (PT), activated partial thromboplastin time (APTT) and interval time between end of surgery and admission to ICU were longer [PT (s): 17.20 (14.50, 18.63) vs. 14.65 (13.90, 16.23), APTT (s): 45.15 (38.68, 55.15) vs. 39.45 (36.40, 45.70), interval time between end of surgery and admission to ICU (hours): 39.2 (0.7, 128.9) vs. 0.7 (0.3, 2.0), all P <0.01], postoperative hemoglobin (Hb), platelet count (PLT), prealbumin (PA), mean arterial pressure (MAP) and oxygenation index (PaO 2/FiO 2) were lower in death group [Hb (g/L): 95.79±23.64 vs. 105.58±19.82, PLT (×10 9/L): 138.5 (101.0, 177.5) vs. 160.5 (118.5, 232.3), PA (g/L): 80.88±43.63 vs. 116.54±50.80, MAP (mmHg, 1 mmHg = 0.133 kPa): 76.8±19.1 vs. 91.6±19.8, PaO 2/FiO 2 (mmHg): 180.0 (123.5, 242.5) vs. 223.5 (174.8, 310.0), all P < 0.05]. Binary multivariate Logistic regression analysis showed that APACHEⅡscore [odds ratio ( OR) = 1.187, 95% confidence interval (95% CI) =1.008-1.294, P < 0.001], interval time between end of operation and admission to ICU ( OR = 1.005, 95% CI = 1.001-1.009, P = 0.016) and postoperative abdominal infection ( OR = 2.630, 95% CI = 1.148-6.024, P = 0.022) were independent risk factors for prognosis in these patients. MAP ( OR = 0.978, 95% CI = 0.957-0.999, P = 0.041) and PaO 2/FiO 2 ( OR = 0.994, 95% CI = 0.990-0.998, P = 0.003) were protective factors for the patients' prognosis. Lac, Hb, PLT, PA, PT and APTT had no predictive value for the prognosis of elderly patients admitted to ICU after elective abdominal surgery [ OR value and 95% CI were 1.075 (0.945-1.223), 1.011 (0.99-1.032), 1.000 (0.995-1.005), 0.998 (0.989-1.007), 1.051 (0.927-1.192) and 1.003 (0.991-1.016), respectively, all P > 0.05. ROC curve analysis showed that APACHEⅡscore, interval time between end of operation and admission to the ICU and the postoperative abdominal infection had certain predictive values for the prognosis of elderly patients, the area under ROC curve (AUC) were 0.755, 0.732 and 0.649 respectively, all P < 0.001; When the cut-off of APACHEⅡscore and interval time between end of operation and admission to the ICU were 24.5 scores and 2.15 hours, the sensitivity were 78.8% and 66.7%, respectively, and the specificity were 62.0% and 76.6%, respectively. The combined predictive value of the three variables was the highest, which AUC was 0.846, the joint prediction probability was 0.27, the sensitivity was 83.3%, and the specificity was 75.3%. Conclusion:APACHEⅡscore, interval time between end of surgery and admission to ICU, and postoperative abdominal infection may be independent risk factors for the death of elderly patients who were admitted to the ICU after elective abdominal surgery, there would be far greater predictive values when the three variables were combined.
		                        		
		                        		
		                        		
		                        	
10.Genetic analyzing for a Chinese intellectual disability pedigree with ARX gene mutation
Lina CUI ; Shuwen XIN ; Aolong YUAN ; Jingshang LYU ; Rongxiang LI ; Shaozhe YANG ; Jing XU ; Xuna XING ; Yaya YANG ; Jiajia YANG ; Xiuhong FU
Chinese Journal of Laboratory Medicine 2021;44(3):228-232
		                        		
		                        			
		                        			Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.
		                        		
		                        		
		                        		
		                        	
            
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