1.Monitoring of mutation evolution of 128 genes in acute myeloid leukemia based on high-throughput NGS technology
Jie XIAO ; Xiaobo YAN ; Xiaoxuan WANG ; Yuquan LI ; Xing ZHANG ; Ziyuan LU ; Jixian HUANG
Journal of Leukemia & Lymphoma 2025;34(5):303-310
Objective:To investigate the patterns of mutation evolution in patients with acute myeloid leukemia (AML) during treatment and the possible clinical significances.Methods:A retrospective case series study was conducted. A total of 103 AML patients who were hospitalized at the Affiliated Yuebei People's Hospital of Medical College of Shantou University from November 2019 to August 2021 and underwent high-throughput next-generation sequencing (NGS) technology to detect the mutations of 128 AML-related genes in bone marrow samples were selected. Based on the NGS results, the somatic gene mutations in samples of patients collected at initial diagnosis (73 cases), complete remission (CR) (30 cases), non-remission (NR) (23 cases), and recurrence (12 cases) were analyzed, and the targeted drugs involved in the gene mutations detected in NR and recurrence samples were summarized.Results:The median age [ M ( Q1, Q3)] of onset for 103 patients was 58 (48, 66) years, including 64 males (61%) and 39 females (39%); 86 cases (83%) were primary AML, and 17 cases (17%) were secondary AML; at the initial diagnosis, 51 cases (50%) had normal karyotypes, 34 cases (33%) had abnormalities, and 18 cases (17.5%) were unknown. Compared with the CR samples, the mutation frequencies of FLT3 [29% (21/73) vs. 3% (1/30)], NPM1 [27% (20/73) vs. 3% (1/30)], NRAS [22% (16/73) vs. 3% (1/30)], and IDH2 [14% (10/73) vs. 0 (0/30)] were all higher in the initial diagnosis samples, and the differences were statistically significant (all P < 0.05); compared with the initial diagnosis sample, the median number of gene mutations in each CR sample was lower [4 (2, 5) vs. 7 (5, 9)], and the difference was statistically significant ( P < 0.001). However, there was no statistically significant difference in the median number of gene mutations in each patient between the initial diagnosis samples and the NR samples, the initial diagnosis samples and the recurrence samples, and the NR samples and the recurrence samples (all P > 0.05). Analysis of 14 patients with NGS data at initial diagnosis and CR showed that the same gene mutations could be detected at initial diagnosis and CR, such as DNAH23 (3 cases), USH2A (3 cases), etc; partial gene mutations were detected at initial diagnosis but were not detected at CR, including NRAS (5 cases), FLT3 (3 cases), ANKRD26 (3 cases), NPM1 (3 cases), ETV6 (3 cases), etc; ARID1B (1 case) and DNMT3A (1 case) were negative for mutations at initial diagnosis but positive upon reaching CR. Analysis of 14 patients with NGS data at initial diagnosis and NR showed that most gene mutations persisted at initial diagnosis and NR, such as DNMT3A (5 cases), NRAS (5 cases), KRAS (3 cases), RUNX1 (3 cases), etc; the mutant genes detected at initial diagnosis but not detected at NR included USH2A (2 cases), PCLO (2 cases), ATM (2 cases), FAT1 (2 cases), etc; partial gene mutations were not detected at initial diagnosis but were detected at NR, such as FAT1 (2 cases), TCF3 (2 cases), etc. Analysis of 5 patients with NGS data at CR and recurrence showed that some gene mutations were detected at both CR and recurrence, such as BCORL1 (1 case), ARID2 (1 case), SETD2 (1 case), VEGFC (1 case), etc; FLT1 (1 case) and GNAS (1 case) gene mutations were detected at CR but not detected at recurrence; at recurrence, some gene mutations that were not detected at CR were also detected, such as ANKRD26 (1 case), WT1 (1 case), etc. Among the 23 NR samples and 12 recurrence samples, the targets of drugs approved by US Food and Drug Administration or in clinical trials were detected in 14 (61%) and 5 (42%) samples respectively, including IDH1, IDH2, FLT3, KIT, KRAS, NRAS, SF3B1, U2AF1, and SRSF2. Conclusions:The number of gene mutations in AML patients during CR is significantly less than that at initial diagnosis, some gene mutations disappear when CR is achieved through treatment, but the majority of gene mutations persist during the treatment period, including NR and recurrence, suggesting that monitoring through NGS technology can help understand the evolution of gene mutations during AML treatment and discover the potential therapeutic targets.
2.Impact of daily diet on military training injuries among high-altitude officers and soldiers
Yutong DONG ; Maolin YANG ; Yangkai ZHANG ; Junjiang YANG ; Xiaobo LI ; Mo LI ; Chen ZHANG ; Yan RUAN ; Junlei ZHANG ; Yan HU
Journal of Army Medical University 2025;47(1):30-37
Objective To explore the characteristics of military training injuries in high-altitude troops and determine the possible impact of daily diet on these training injuries in order to provide theoretical reference for scientific training and medical service support for high-altitude troops.Methods A cross-sectional scheme was adopted in this study.A self-designed Military Training Injury Questionnaire for Plateau Troops was used to survey the officers and soldiers from resident high-altitude troops in July 2024 for their training injuries,daily diet,and other situations.The obtained data were statistically analyzed.Results Among the 3 655 participants,the incidence of military training injuries was 17.87%.The subject with highest incidence was physical training(45.94%),the most common season was winter(31.39%).The most common sites of injury were waist(28.48%),knees(22.21%),and ankles(18.07%),and the most common types were sprains(28.48%),chronic fatigue injuries(18.38%)and strains(12.25%).The intake amounts of coarse grains and potatoes,bean products,aquatic products and nuts were relatively low in the daily diet of high-altitude troops.Multivariate logistic regression analysis found intake of fruit(OR=0.625,95%CI:0.508~0.768,P<0.001)and of nut(OR=0.759,95%CI:0.654~0.879,P<0.001)were correlated with the occurrence of training injury.Conclusion The occurrence pattern of military training injuries in high-altitude troops in this survey is basically consistent with that of previous reports,but the incidence rate is slightly decreased.Regular consumption of fruit and nut may be protective factors for the occurrence of training injuries.
3.Analysis of factors associated with infection and death of carbapenem-resistant Klebsiellapneumoniae
Xiao WANG ; Yihai GU ; Wei ZHANG ; Yan JIANG ; Minghui DENG ; Xuan HOU ; Mengrong ZHOU ; Hui WANG ; Xiaobo LI
Chinese Journal of Preventive Medicine 2024;58(4):545-551
To analyze the factors associated with infection and death of carbapenem-resistant Klebsiella pneumoniae (CRKP) in patients. Using a case-control study method, patients with CRKP infection from January 2019 to December 2021 in the 3201 Hospital were selected as the case group, and patients with carbapenem-susceptible Klebsiella pneumoniae (CSKP) infection in the same period were selected as the control group in a ratio of 1∶1. The study subjects were followed up for 30 days. The two groups of patients were categorized into survival and death groups based on whether they died or not, respectively, and the 30-day morbidity and mortality rates of the CRKP case group and the CSKP control group were compared. The logistic regression model was used to analyze the factors associated with CRKP infection and death after CRKP infection. This study included 59 cases in the CRKP case group and 59 in the CSKP control group. The 30-day mortality rate of CRKP-infected patients and CSKP-infected patients were 30.5% (18/59) and 5.1% (3/59), with statistically significant differences ( P<0.001). Surgery within three months prior to KP infection ( OR=17.285, P=0.001), use of carbapenems within three months prior to KP infection ( OR=11.235, P=0.002), use of more than three types of antibiotics ( OR=7.993, P=0.016), albumin<30 g/L in patients prior to KP infection ( OR=10.463, P=0.002), sex ( OR=0.078, P<0.001), and diabetes ( OR=0.076, P=0.011) were associated factors of CRKP infection. Higher age-corrected Charlson Comorbidity Index scores of patients ( OR=1.522, P=0.024) and use of carbapenems by the patients with in the first three months prior to the KP infection ( OR=4.902, P=0.029) were associated factors for the deaths of patients with CRKP. In conclusion, medical personnel should be cautious in performing invasive procedures, strictly control the use of antibiotics, and provide targeted protection and treatment for high-risk patients as soon as possible.
4.Analysis of factors associated with infection and death of carbapenem-resistant Klebsiellapneumoniae
Xiao WANG ; Yihai GU ; Wei ZHANG ; Yan JIANG ; Minghui DENG ; Xuan HOU ; Mengrong ZHOU ; Hui WANG ; Xiaobo LI
Chinese Journal of Preventive Medicine 2024;58(4):545-551
To analyze the factors associated with infection and death of carbapenem-resistant Klebsiella pneumoniae (CRKP) in patients. Using a case-control study method, patients with CRKP infection from January 2019 to December 2021 in the 3201 Hospital were selected as the case group, and patients with carbapenem-susceptible Klebsiella pneumoniae (CSKP) infection in the same period were selected as the control group in a ratio of 1∶1. The study subjects were followed up for 30 days. The two groups of patients were categorized into survival and death groups based on whether they died or not, respectively, and the 30-day morbidity and mortality rates of the CRKP case group and the CSKP control group were compared. The logistic regression model was used to analyze the factors associated with CRKP infection and death after CRKP infection. This study included 59 cases in the CRKP case group and 59 in the CSKP control group. The 30-day mortality rate of CRKP-infected patients and CSKP-infected patients were 30.5% (18/59) and 5.1% (3/59), with statistically significant differences ( P<0.001). Surgery within three months prior to KP infection ( OR=17.285, P=0.001), use of carbapenems within three months prior to KP infection ( OR=11.235, P=0.002), use of more than three types of antibiotics ( OR=7.993, P=0.016), albumin<30 g/L in patients prior to KP infection ( OR=10.463, P=0.002), sex ( OR=0.078, P<0.001), and diabetes ( OR=0.076, P=0.011) were associated factors of CRKP infection. Higher age-corrected Charlson Comorbidity Index scores of patients ( OR=1.522, P=0.024) and use of carbapenems by the patients with in the first three months prior to the KP infection ( OR=4.902, P=0.029) were associated factors for the deaths of patients with CRKP. In conclusion, medical personnel should be cautious in performing invasive procedures, strictly control the use of antibiotics, and provide targeted protection and treatment for high-risk patients as soon as possible.
5.Current status of radiological Kashin-Beck disease among school-aged children in Chamdo City, Tibet
Jiaxiang GAO ; Hu LI ; Liyi ZHANG ; Zihao HE ; Ziyi YANG ; Zhichang LI ; Kai WANG ; Yan KE ; Qiang LIU ; Shu ZHANG ; Xiaobo CHENG ; Shuai CHAI ; Zhaoyang MENG ; Lipeng SUN ; Qunwei LI ; Hongqiang GONG ; Jianhao LIN
Chinese Journal of Orthopaedics 2024;44(1):33-40
Objective:This study aimed to explore the status of radiological Kashin-Beck disease (KBD) among school-aged children in Chamdo City, Tibet, through a 3-year monitoring survey, providing epidemiological evidence for prevention and control strategies.Methods:The target areas for this study were Luolong, Bianba, and Basu counties in Chamdo City, Tibet Autonomous Region, identified as having the most severe historical cases of KBD. Children aged 7-12 years attending school were enrolled as study subjects. Anteroposterior X-ray films of the right-hand were taken, and radiological diagnoses were made based on the "Diagnosis of Kashin-Beck Disease" criteria (WS/T 207-2010). Two experienced researchers independently reviewed the X-rays, and intra- and inter-group consistency were assessed using weighted Kappa values and percentage agreement. Cross-sectional surveys were conducted in 2017 and 2020 to describe the X-ray detection rates of KBD, and logistic regression analysis was employed to construct a predictive model of risk factors for radiological KBD cases.Results:In 2017, a total of 5,711 children aged 7-12 years in Chamdo City, Tibet, participated in the baseline cross-sectional survey (average age 9.2 years, 48.0% female), with 28 cases of radiological KBD. The age- and gender-standardized prevalence rate was 0.527%. In 2020, 6,771 participants (average age 9.3 years, 49.5% female) underwent a second cross-sectional survey, with 9 cases of radiological KBD and a standardized prevalence rate of 0.134%. Logistic regression analysis indicated that older age [ OR=2.439, 95% CI(1.299, 4.580), P=0.006] and female gender [ OR=8.157, 95% CI(1.016, 65.528), P=0.048] were independent risk factors for radiological KBD cases. Conversely, higher residential altitude, under the premise of Tibet's high altitude, was a protective factor [ OR=0.995, 95% CI(0.990, 0.999), P=0.032). Conclusion:The radiographically positive detection rate of KBD among school-aged children in Chamdo City, Tibet Autonomous Region, is at an extremely low level and showing a declining trend, reaching the historical standard in 2020. Considering the absence of positive signs in affected children, it suggests that local KBD has been effectively eliminated.
6.Analysis of risk factors of pleural effusion after spinal separation
Keyi WANG ; Hao QU ; Wen WANG ; Zhaonong YAO ; Xiaowei ZHOU ; Yuhong YAO ; Hengyuan LI ; Peng LIN ; Xiumao LI ; Xiaobo YAN ; Meng LIU ; Xin HUANG ; Nong LIN ; Zhaoming YE
Chinese Journal of Orthopaedics 2024;44(3):169-176
Objective:To investigate the risk factors of pleural effusion after spinal separation surgery for patients with spinal metastatic tumors.Methods:A total of 427 patients with spinal metastatic tumors from January 2014 to January 2022 in the Second Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. There were 252 males and 175 females, with an average age of 59±12 years (range, 15-87 years). All patients underwent separation surgery. Based on the chest CT within 1 month after surgery, the volume of pleural effusion was measured individually by reconstruction software. Pleural effusion was defined as small volume (0-500 ml), moderate volume (500-1 000 ml), and large volume (above 1 000 ml). Baseline data and perioperative clinical outcomes were compared between the groups, and indicators with statistically significant differences were included in a binary logistic regression analysis to determine the independent risk factors for the development of pleural effusion after isolation of spinal metastatic cancer. Receiver operating characteristic (ROC) curves were conducted to calculate the area under the curve (AUC) for each independent risk factor.Results:All patients successfully completed the operation. Among the 427 patients, there were 35 cases of large pleural effusion, 42 cases of moderate pleural effusion, and 350 cases of small pleural effusion. There were significant differences in tumor size (χ 2=9.485, P=0.013), intraoperative blood loss ( Z=-2.503, P=0.011), blood transfusion ( Z=-2.983, P=0.003), preoperative total protein ( Z=2.681, P=0.007), preoperative albumin ( Z=1.720, P= 0.085), postoperative hemoglobin ( t=2.950, P=0.008), postoperative total protein ( Z=4.192, P<0.001), and postoperative albumin ( t=2.268, P=0.032) in the large pleural effusion group versus the small and moderate pleural effusion group. Logistic regression analysis showed that decreased preoperative albumin ( OR=0.89, P=0.045) and metastases located in the thoracic spine ( OR=4.01, P=0.039) were independent risk factors for the occurrence of large pleural effusion after separation surgery. The ROC curve showed that the AUC and 95% CI for preoperative albumin, lesion location, and the combined model were 0.637 (0.54, 0.74), 0.421 (0.36, 0.48), and 0.883 (0.81, 0.92). The combined predictive model showed good predictive value. Conclusion:The volume of pleural effusion can be measured individually and quantitatively based on chest CT. Decreased preoperative albumin and metastases located in the thoracic spine are independent risk factors for the occurrence of large pleural effusion after separation surgery. The combined prediction of the two factors has better predictive efficacy.
7.Opportunities and challenges in the collaborative development of laboratory medicine and lifeomics
Xiaobo YU ; Aihua SUN ; Yan WANG ; Fuchu HE
Chinese Journal of Laboratory Medicine 2024;47(1):7-13
With the maturation of proteomics technologies in recent years, proteomics has made significant achievements in early detection of major diseases, disease classification, drug target discovery, and other fields. To explore the important role of proteomics, especially proteomics-based cutting-edge lifeomics technologies, in promoting the development of precision laboratory medicine and to discuss the opportunities and challenges faced during the clinical translation of innovative outcomes, the National Center for Protein Sciences-Beijing invited renowned experts and scholars in laboratory medicine, lifeomics, and precision medicine. The discussions revolved around the collaborative development of laboratory medicine and lifeomics, the future trends of new technologies in clinical laboratory testing, the innovation and development of lifeomics in laboratory medicine, the translational application of proteomics technologies in laboratory medicine, and the opportunities and challenges in the industrialization of proteomics achievements. All participants agreed that proteomics provides new directions and opportunities for precision diagnosis and treatment of diseases. However, close collaboration between academia, hospitals and industry is required. Additionally, challenges such as clinical applicability of equipment, standardization of detection methods and data, cost and quality control, talent cultivation, and the industrialization pathway need to be addressed.
8.A Preliminary Proteomic Study of Peitu Qingxin Granules for the Treatment of Atopic Dermatitis
Junfeng LIU ; Kai ZHANG ; Xiumei MO ; Saiya WANG ; Fenggen YAN ; Siqi YE ; Jinjing JIA ; Yu ZHANG ; Dacan CHEN ; Xiaobo YU
Traditional Chinese Drug Research & Clinical Pharmacology 2024;35(2):191-199
Objective A serum proteomic approach was used to explore the targets of action of Peitu Qingxin Granules(composed of Rhizoma Atractylodis Macrocephalae,Forsythiae Fructus,Imperatae Rhizoma,Pseudostellariae Radix,etc.)in the treatment of atopic dermatitis.Methods Five patients with atopic dermatitis were selected and treated with Peitu Qingxin Granules for 12 weeks,and five healthy volunteers were used as controls.The clinical core evaluation indexes of atopic dermatitis patients after treatment,including Eczema Area and Severity Index/Scoring Atopic Dermatitis(EASI/SCORAD),Pruritus Score,Patient-Oriented Eczema Measure(POEM),and quality of life index,were assessed.Serum samples were examined using data-independent acquisition-mass spectrometry(DIA-MS)technology,and serum differential proteins between atopic dermatitis patients and healthy people,as well as serum differential proteins in atopic dermatitis patients before and after treatment with Peitu Qingxin Granules were screened according to P<0.05 and Fold Change>1.2.GO function enrichment analysis and KEGG pathway enrichment analysis were performed on the differential proteins.Results(1)Compared with the pre-treatment period,the clinical core evaluation indexes of patients with atopic dermatitis,including the EASI/SCORAD,Pruritus Score,POEM,and quality-of-life index,were significantly improved after treatment,and the differences were all statistically significant(P<0.05,P<0.01).(2)A total of 28 differential proteins were analyzed in the healthy control group and atopic dermatitis group,of which 12 proteins expressions were increased and 16 proteins were decreased,including ALAD(δ-aminolevulinic acid dehydrogenase),LTA4H(leukotriene A-4 hydrolase),CA1(carbonic anhydrase 1),F11(coagulation factor XI),and LCP1(lymphocyte cytoplasmic protein 1),etc..The main signaling pathways involved are PI3K-AKT signaling pathway,lipids and atherosclerosis,ECM-receptor interaction,platelet activation,NF-κB signaling pathway,and neutrophil extracellular trap formation.(3)A total of 12 different proteins were analyzed in atopic dermatitis patients before and after treatment with Peitu Qingxin Granules,of which 8 proteins were increased and 4 proteins were decreased,including ALAD,FGA(fibrinogen α-chain),IGHV3-64D,and IGHV3-38.They were mainly involved in signaling pathways such as lipids and atherosclerosis,complement pathway,Staphylococcus aureus infection,NF-κB signaling pathway,fluid shear stress and atherosclerosis.(4)The expressions of three protein targets including ALAD,FGA and IGHV3-64D,were significantly down-regulated in patients with atopic dermatitis and significantly up-regulated after treatment with Peitu Qingxin Granules.Conclusion The differentially expressed proteins ALAD,FGA and IGHV3-64D may be the action targets of Peitu Qingxin Granules in the treatment of atopic dermatitis,which lays the foundation for further experimental validation.
9.Analysis of clinical characteristics and risk factors for nosocomial mortality in patients with liver cirrhosis combined with atrial arrhythmia
Jieya REN ; Meimei YAN ; Xinting LI ; Hui LIU ; Nuer TANG ; Rongjiong ZHENG ; Xiaobo LU
Chinese Journal of Hepatology 2024;32(5):453-460
Objective:To analyze and explore the clinical characteristics and risk factors related to nosocomial mortality in patients with liver cirrhosis combined with atrial arrhythmia.Methods:252 hospitalized patients with liver cirrhosis combined with atrial arrhythmia from January 2014 to December 2021 were enrolled, and their clinical characteristics were analyzed. The above-mentioned patients were divided into groups according to their nosocomial mortality rate. Among them, 45 nosocomial mortality cases were classified as the mortality group, and 207 survival cases were classified as the survival group. The differences in clinical data and laboratory data between the two groups were compared. The risk factors for nosocomial mortality in patients with liver cirrhosis combined with atrial arrhythmia were analyzed. The t-test, or rank-sum test, was used to compare measurement data. The chi-square test, or Fisher's exact probability method, was used to compare enumeration data. Multivariate analysis was performed by the logistic regression method.Results:Among the 252 cases, the male-to-female ratio was the same (male/female ratio: 126/126). The age range was 26 to 89 (66.77±10.46) years. Han ethnicity accounted for 79.5%. The main type of atrial arrhythmia was atrial fibrillation ( P ?0.001). The main cause of liver cirrhosis was post-hepatitis B cirrhosis (56.3%). There were 57/72/123 cases of CTP grade A/B/C. The CTP and Model for End-Stage Liver Disease (MELD) scores were 10.30±1.77 and 18.0(11.0, 29.0), respectively. The nosocomial mortality rate was 17.9% (45/252). The overall incidence rate of complications in all patients was 89.28%, with complications occurring in the following order: 71.4% ascites, 71.0% hypersplenism, 64.7% spontaneous peritonitis, 64.3% esophageal gastric varices, 32.5% hepatorenal syndrome, 32.1% hepatic encephalopathy, and 26.2% esophageal gastric variceal bleeding. The incidence rate of new-onset atrial fibrillation in the nosocomial mortality group was 73.3%, which was much higher than the 44.0% rate in the survival group ( P ?0.05). Multivariate logistic regression analysis showed that new-onset atrial fibrillation ( OR=2.707, 95% CI 1.119?~?6.549), esophageal-gastric varices ( OR=3.287, 95% CI 1.189?~?9.085), serum potassium ( OR=3.820, 95% CI 1.532?~?9.526), and MELD score ( OR=1.108, 95% CI 1.061~1.157) were independent risk factors for nosocomial mortality in patients with liver cirrhosis combined with atrial arrhythmia. Conclusion:Patients with cirrhosis combined with atrial arrhythmias have more severe liver function damage and are more likely to develop complications such as ascites, hypersplenism, and hepatorenal syndrome. New-onset atrial fibrillation, esophageal-gastric varices, hyperkalemia, and a high MELD score are risk factors for nosocomial mortality in patients with liver cirrhosis combined with atrial arrhythmia, so more attention should be paid to corresponding patients for timely symptomatic treatment.
10.Investigation on a suspected outbreak of carbapenem-resistant Acinetobacter baumannii nosocomial infection in an intensive care unit
Mei HUANG ; Xiaobo GUI ; Ya YANG ; Feng LU ; Juanxiu QIN ; Yan LI ; Shuyi ZHANG ; Wenqin ZHOU ; Xiaofang FU ; Haiqun BAN
Shanghai Journal of Preventive Medicine 2024;36(5):435-438
ObjectiveTo investigate a suspected outbreak of carbapenem-resistant Acinetobacter baumannii (CRAB) nosocomial infection in an intensive care unit (ICU) and provide scientific evidence for prevention and control of multi-drug resistant nosocomial infection. MethodsClinical and epidemiological data of 4 patients with CRAB infection were retrospectively investigated in the ICU of Renji Hospital in November 2021. Environmental hygiene monitoring and multilocus sequence typing (MLST) were conducted and intervention measures were taken. ResultsA total of 4 cases with CRAB infection were identified, among which 1 case was determined to be community-acquired and3 cases were hospital-acquired. The isolated strains shared the same drug resistance, and were all classified into ST368 type. In the surface and hand samples (n=40), 2 CRAB strains were detected in the air filter beside the bed of the first case, with a detection rate of 5%. After adopting comprehensive prevention and control strategies, including environmental cleaning and disinfection, hand hygiene, staff management and training, and supervision, no similar case with CRAB infection was found. ConclusionThis suspected outbreak of CRAB nosocomial infection may be induced by inadequate environmental cleaning and disinfection, and inadequate implementation of hand hygiene. Timely identification, investigation, and targeted measures remain crucial to effective control of possible nosocomial infection.

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