1.miR-429-3p mediates memory decline by targeting MKP-1 to reduce surface GluA1-containing AMPA receptors in a mouse model of Alzheimer's disease.
Man LUO ; Yayan PANG ; Junjie LI ; Lilin YI ; Bin WU ; Qiuyun TIAN ; Yan HE ; Maoju WANG ; Lei XIA ; Guiqiong HE ; Weihong SONG ; Yehong DU ; Zhifang DONG
Acta Pharmaceutica Sinica B 2024;14(2):635-652
Alzheimer's disease (AD) is a leading cause of dementia in the elderly. Mitogen-activated protein kinase phosphatase 1 (MKP-1) plays a neuroprotective role in AD. However, the molecular mechanisms underlying the effects of MKP-1 on AD have not been extensively studied. MicroRNAs (miRNAs) regulate gene expression at the post-transcriptional level, thereby repressing mRNA translation. Here, we reported that the microRNA-429-3p (miR-429-3p) was significantly increased in the brain of APP23/PS45 AD model mice and N2AAPP AD model cells. We further found that miR-429-3p could downregulate MKP-1 expression by directly binding to its 3'-untranslated region (3' UTR). Inhibition of miR-429-3p by its antagomir (A-miR-429) restored the expression of MKP-1 to a control level and consequently reduced the amyloidogenic processing of APP and Aβ accumulation. More importantly, intranasal administration of A-miR-429 successfully ameliorated the deficits of hippocampal CA1 long-term potentiation and spatial learning and memory in AD model mice by suppressing extracellular signal-regulated kinase (ERK1/2)-mediated GluA1 hyperphosphorylation at Ser831 site, thereby increasing the surface expression of GluA1-containing α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). Together, these results demonstrate that inhibiting miR-429-3p to upregulate MKP-1 effectively improves cognitive and synaptic functions in AD model mice, suggesting that miR-429/MKP-1 pathway may be a novel therapeutic target for AD treatment.
2.Effect and safety of common electric knife clamp coagulation technique in thyroidectomy in rabbits
Tingting LI ; Shan LI ; Dong HOU ; Yang SONG ; Yihao WANG ; Lei WANG ; Huichao XUE
Journal of Xinxiang Medical College 2024;41(3):209-213
Objective To investigate the effect and safety of common electric knife clamp coagulation technique in rabbit thyroidectomy.Methods According to the random number table method,12 New Zealand rabbits were divided into the clamp coagulation group and the ultrasonic scalpel group,with 6 rabbits in each group.The middle part of the thyroid gland in the clamp coagulation group was severed by common electric knife clamp coagulation,while that in the ultrasonic scalpel group was severed by ultrasonic scalpel electrocoagulation.The postoperative conditions of rabbits in the two groups were observ.The severed thyroid tissue was stained with hematoxylin-eosin(HE),and its histopathology after thermal damage was observed under the light microscope.The scope of thermal damage was determined.On the 1st,3rd and 7th day after operation,the auricular venous blood of all rabbits was collected to assess the serum interleukin-6(IL-6)and C-reactive protein(CRP)levels by enzyme-linked immunosorbent assay.The rabbits were killed on the 7th day after operation,and the residual thyroid glands were removed and stained by HE.The pathological changes and inflammatory cell infiltration were observed under the light microscope.Results The rabbits in the 2 groups survived well after operation,and the operative area healed well.No obvious effusion,blood clot,bleeding,incision infection or other complications were found in the residual cavity.Under the light microscope,the surface of the incisal margin of the thyroid gland showed obvious lesions.In the injured area,some cell structures were damaged with coagulated necrosis,some follicles were ruptured,and the contents inside were solidly concentrated and deeply stained.The cytoplasmic eosinophils in parafollicular cells increased,and nuclear pyknosis,fragmentation,and even dissolution occurred.The thermal damage ranges of thyroid tissues in the ultrasonic scalpel and clamp coagulation groups were(0.72± 0.10)mm and(0.88±0.11)mm,respectively.The range of thermal damage in the clamp coagulation group was significantly greater than that in the ultrasonic scalpel group(t=-2.740,P<0.05).On the 1st,3rd and 7th day after surgery,there was no significant difference in the levels of serum CRP and IL-6 between the two groups(P>0.05).The serum IL-6 levels in both groups on the 3rd and 7th day after surgery were significantly higher than those on the 1st day after surgery(P<0.05).There was no significant difference in serum IL-6 level on the 3rd and 7rd day after surgery in the two groups(P>0.05).Thyroid follicular atrophy,glia reduction,follicular epithelial hyperplasia,collagenization and hyperplasia of interstitial fibers were observed in the residual thyroid sections of both groups.No obvious inflammatory cell infiltration was observed.Conclusion In rabbit thyroidectomy,it is safe to remove the thyroid gland using the common electric knife clamp coagulation technique.In terms of preventing thermal damage,the ultrasonic scalpel is better than the common electric knife clamp coagulation technique,but the thermal damage to thyroid tissues caused by the common electric knife clamp coagulation technique is within the safe operating range.
3.Protective effects of citicoline sodium on developmental convulsive cerebral injury in rats
Bo ZHANG ; Xiao-Dong ZHAO ; Cheng XU ; Lei SONG
The Chinese Journal of Clinical Pharmacology 2024;40(17):2528-2532
Objective To explore the protective effect and mechanism of citicoline sodium on developmental convulsive cerebral injury in rats.Method SD rats were randomly divided into control group,model group and experimental group with 10 in each group.The rat developmental convulsive model was established by intraperitoneal injection of lithium chloride,scopolamine hydrobromide and pilocarpine.After successful modeling,the rats in experimental group were intraperitoneally injected with cytidine sodium(500 mg·kg-1)once a day for one week.The control group and the model group were intraperitoneally injected with the same amount of 0.9%NaCl at the same time point.Griess detection of nitric oxide(NO)concentration in serum;enzyme-linked immunosorbent assay(ELISA)detection of interleukin-6(IL-6)and interleukin-1 β(IL-1β)content in cerebrum;biochemical detection detection of superoxide dismutase(SOD)activity and malondialdehyde(MDA)content in cerebrum;real-time quantitative polymerase chain reaction(qRT-PCR)detection of mRNA levels of inducible nitric oxide synthase(iNOS)in cerebrum;Western blot detection of protein levels of G protein-coupled receptors 39 antibody(GPR39),protein kinase B(AKT),and extracellular regulated protein kinases(ERK)in cerebrum.Results In control group,model group and experimental group,the level of IL-6 in rats cerebrum were(37.16±6.34),(119.31±19.26)and(74.52±12.37)pg·mL-1,respectively;the contents of IL-1 β were(7.46±1.25),(42.73±8.41)and(24.18±4.62)pg·mL-1,respectively;SOD activity were(384.51±34.72),(229.16±27.42)and(218.47±33.59)U·gp-1,respectively;MDA content were(1.06±0.15),(1.82±0.21)and(1.24±0.17)U·gp-1,respectively;serum NO levels were(13.62±2.06),(29.34±5.37)and(16.55±3.15)μmol·L-1,respectively;mRNA levels of iNOS were 1.00±0.15,2.19±0.24 and 1.62±0.18,respectively;protein levels of GPR39 were 0.41±0.05,1.03±0.19 and 0.74±0.08,respectively;p-AKT/AKT values were 0.46±0.07,0.13±0.04 and 0.36±0.05,respectively;p-ERK/ERK values were 0.37±0.11,0.11±0.03 and 0.42±0.05,respectively.The above indicators showed statistically significant differences between the control group and the model group(P<0.01,P<0.001);the difference between the model group and the experimental group was statistically significant(P<0.05,P<0.01,P<0.001).Conclusion Cytidine sodium can effectively alleviate the degree of developmental convulsive cerebral injury rats,inhibit inflammatory reactions,and improve oxidative stress.Its mechanism may be related to the activation of GPR39/AKT/ERK signaling pathway.
4.The role of endoplasmic reticulum stress in non-alcoholic fatty liver disease and related targeted therapies
Xiuyan LI ; Na LEI ; Hongfei SONG ; Ling ZENG ; Dong WANG ; Jie MU
Journal of Clinical Hepatology 2024;40(11):2300-2305
Non-alcoholic fatty liver disease(NAFLD)is a series of diseases characterized by hepatic steatosis and is also a metabolism-associated disease and an important factor for liver fibrosis,liver cirrhosis,and hepatocellular carcinoma.Endoplasmic reticulum is a core organelle for the regulation of lipid metabolism,and unfolded protein response is an important process of endoplasmic reticulum stress(ERS).Based on the important stress role of endoplasmic reticulum in metabolism-associated diseases,this article explores the influencing mechanism between ERS and NAFLD and reviews the research advances in lipid metabolism,inflammatory response,hepatocyte death,fibrosis,and ERS-targeted therapies in the pathological development of NAFLD.
5.Trends and factors associated with overweight and obesity among primary and secondary school students in Tianjin from 2019 to 2023
Chinese Journal of School Health 2024;45(8):1176-1180
Objective:
To understand trends and related factors influencing overweight and obesity among primary and secondary school students in Tianjin, so as to provide a basis for formulating overweight and obesity prevention and control strategies.
Methods:
In September of each year from 2019 to 2023, a survey was conducted among 197 707 primary and secondary school students in 16 districts of Tianjin through a stratified random cluster sampling method. Physical examination was carried out in accordance with the Technical Standard for Physical examination for Student, and overweight and obesity survey was carried out. Basic information, smoking, drinking, diet, physical exercise, and sleep status were collected through questionnaire surveys.
Results:
The detection rates of overweight and obesity among primary and secondary school students in Tianjin from 2019 to 2023 were 39.07%, 43.33%, 41.54%, 43.92%, and 40.24%, respectively,showing an increasing trend(χ2trend=7.96,P<0.01). The detection rates of overweight increased in both vocational high schools and suburban counties (χ2trends=9.08, 47.18, P<0.01). The detection rates of obesity increased among both male and female students, in primary and vocational high schools and suburban counties (χ2trends=108.34, 15.99, 7.32, 10.95, 14.75, P<0.01). Multivariate Logistic regression analysis showed that smoking, drinking, unhealthful diet, and lack of proper physical exercise had a higher risk of obesity among primary and secondary school students (OR=1.26, 1.13, 1.08, 1.21, P<0.05). Stratified analysis showed that the risk of obesity was higher among boys with unhealthful and moderate lifestyle habits, as well as primary school students with unhealthful lifestyle habits (OR=1.15, 1.11, 1.27, P<0.05). Boys, girls and primary school students with unhealthful lifestyle habits, girls and ordinary high school students with moderate lifestyle habits had higher risk of being overweight (OR=1.14, 1.32, 1.21, 1.18, 1.40, P<0.05).
Conclusions
The detection rates of overweight and obesity among primary and secondary school students in Tianjin shows an increasing trend. Comprehensive lifestyle should be implemented to better prevent and control the risk of overweight and obesity.
6.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
7.Detection of five tick-borne pathogens in Maanshan City,Anhui Province,China
Guo-Dong YANG ; Kun YANG ; Liang-Liang JIANG ; Ming WU ; Ying HONG ; Ke-Xia XIANG ; Jia HE ; Lei GONG ; Dan-Dan SONG ; Ming-Jia BAO ; Xing-Zhou LI ; Tian QIN ; Yan-Hua WANG
Chinese Journal of Zoonoses 2024;40(4):308-314
Here,5 important pathogens carried by ticks in Maanshan City,Anhui Province,China were identified.In to-tal,642 ticks were collected from 13 villages around Maanshan City and identified by morphological and mitochondrial COI genes.The 16S rRNA gene of Francisella tularensis,ssrA gene of Bartonella,16S rRNA,ompA and ompB genes of Rickett-sia,16S rRNA and gltA genes of Anaplasma,and groEL and rpoB genes of Coxiella were sequenced.Reference sequences were retrieved from a public database.Phylogenetic trees were constructed with MEG A1 1.0 software.In total,36 Rickettsiae isolates were detected in 640 Haemaphysalis longicornis ticks,which included 20 isolates of Rickettsia heilongjian-gensis,16 of Candidatus Rickettsia jingxinensis,2 of Ana-plasma bovis,and 186 of Coxiella-like endosymbiont.R.hei-longjiangensis HY2 detected in this study and Anhui B8 strain,Ca.R.jingxinensis QL3 and those from Shanxi Prov-ince and Jiangsu Province,A.bovis JX4 and those from Shanxi Province were clustered on the same branch.Overall,17 ticks had combined infections and none of the 5 bacteria were detected in two Amblyomma testudinarium ticks.This is the first report of Ca.R.jingxinensis detected in H.longicornis ticks from Anhui Province.It is recommended that the two types of Rickettsia that cause spotted fever and A.bovis should be reported to local health authorities to initiate appropriate prevention and control measures.
8.Investigation on the quality management of intravenous therapy in 1 926 hospitals
Fangfang DONG ; Lei WANG ; Wei GAO ; Jingzhi GENG ; Wenyan SUN ; Yu WANG ; Qiaofang YANG ; Yuanyuan SONG ; Chunyan LI
Chinese Journal of Nursing 2024;59(20):2447-2455
Objective To investigate the current state of quality management on intravenous therapy in secondary and tertiary hospitals in China.This study aims to provide a reference for the development of relevant policies,promoting the professionalization,standardization,and homogenization of intravenous therapy.Methods By a convenience sampling method,intravenous therapy nursing managers from secondary and tertiary hospitals in 31 provinces,autonomous regions,and municipalities were selected as survey participants in November 2023.A self-designed questionnaire was used for the survey.Results A total of 2 129 questionnaires were collected,of which 1,926 were valid,resulting in a response rate of 90.47%.Among the 1926 hospitals,1 733(89.98%)had established quality evaluation standards for intravenous therapy,and 1 734(90.03%)conducted regular quality inspections for intravenous therapy or peripherally inserted central catheter(PICC)insertion and maintenance.Additionally,1 604 hospitals(83.28%)had established protocols for handling and reporting intravenous therapy or PICC-related complications,and 1 574 hospitals(81.72%)regularly collected and analyzed data related to intravenous therapy or PICC insertion and maintenance.Moreover,371 hospitals(19.26%)had implemented intravenous therapy information management systems.Regarding various types of intravenous therapy documents,the highest rate of document types was informed consent forms,with a compliance rate of over 80.00%,followed by insertion records and catheter maintenance records,respectively.The lowest rate was complication management records,with a compliance rate of less than 50.00%.For catheter maintenance protocols,the highest compliance rate was for maintenance procedures,at over 85.00%,followed by insertion procedures.Except for PICCs,the compliance rate for establishing catheter removal and complication management procedures for other types of catheters was less than 65.00%.In terms of quality management of intravenous therapy,there are significant differences between secondary and tertiary hospitals.Conclusion The quality evaluation standards for intravenous therapy are relatively comprehensive,but the informatization of intravenous therapy quality management is still underdeveloped.Furthermore,there is a need to further standardize the documentation and procedures related to intravenous therapy,and there are differences in the level of intravenous therapy management among hospitals of different levels.
9.HbA1c comparison and diagnostic efficacy analysis of multi center different glycosylated hemoglobin detection systems.
Ping LI ; Ying WU ; Yan XIE ; Feng CHEN ; Shao qiang CHEN ; Yun Hao LI ; Qing Qing LU ; Jing LI ; Yong Wei LI ; Dong Xu PEI ; Ya Jun CHEN ; Hui CHEN ; Yan LI ; Wei WANG ; Hai WANG ; He Tao YU ; Zhu BA ; De CHENG ; Le Ping NING ; Chang Liang LUO ; Xiao Song QIN ; Jin ZHANG ; Ning WU ; Hui Jun XIE ; Jina Hua PAN ; Jian SHUI ; Jian WANG ; Jun Ping YANG ; Xing Hui LIU ; Feng Xia XU ; Lei YANG ; Li Yi HU ; Qun ZHANG ; Biao LI ; Qing Lin LIU ; Man ZHANG ; Shou Jun SHEN ; Min Min JIANG ; Yong WU ; Jin Wei HU ; Shuang Quan LIU ; Da Yong GU ; Xiao Bing XIE
Chinese Journal of Preventive Medicine 2023;57(7):1047-1058
Objective: Compare and analyze the results of the domestic Lanyi AH600 glycated hemoglobin analyzer and other different detection systems to understand the comparability of the detection results of different detectors, and establish the best cut point of Lanyi AH600 determination of haemoglobin A1c (HbA1c) in the diagnosis of diabetes. Methods: Multi center cohort study was adopted. The clinical laboratory departments of 18 medical institutions independently collected test samples from their respective hospitals from March to April 2022, and independently completed comparative analysis of the evaluated instrument (Lanyi AH600) and the reference instrument HbA1c. The reference instruments include four different brands of glycosylated hemoglobin meters, including Arkray, Bio-Rad, DOSOH, and Huizhong. Scatter plot was used to calculate the correlation between the results of different detection systems, and the regression equation was calculated. The consistency analysis between the results of different detection systems was evaluated by Bland Altman method. Consistency judgment principles: (1) When the 95% limits of agreement (95% LoA) of the measurement difference was within 0.4% HbA1c and the measurement score was≥80 points, the comparison consistency was good; (2) When the measurement difference of 95% LoA exceeded 0.4% HbA1c, and the measurement score was≥80 points, the comparison consistency was relatively good; (3) The measurement score was less than 80 points, the comparison consistency was poor. The difference between the results of different detection systems was tested by paired sample T test or Wilcoxon paired sign rank sum test; The best cut-off point of diabetes was analyzed by receiver operating characteristic curve (ROC). Results: The correlation coefficient R2 of results between Lanyi AH600 and the reference instrument in 16 hospitals is≥0.99; The Bland Altman consistency analysis showed that the difference of 95% LoA in Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180) was -0.486%-0.325%, and the measurement score was 94.6 points (473/500); The difference of 95% LoA in the Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant II) was -0.727%-0.612%, and the measurement score was 89.8 points; The difference of 95% LoA in the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT) was -0.231%-0.461%, and the measurement score was 96.6 points; The difference of 95% LoA in the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT) was -0.469%-0.479%, and the measurement score was 91.9 points. The other 14 hospitals, Lanyi AH600, were compared with 4 reference instrument brands, the difference of 95% LoA was less than 0.4% HbA1c, and the scores were all greater than 95 points. The results of paired sample T test or Wilcoxon paired sign rank sum test showed that there was no statistically significant difference between Lanyi AH600 and the reference instrument Arkray HA8180 (Z=1.665,P=0.096), with no statistical difference. The mean difference between the measured values of the two instruments was 0.004%. The comparison data of Lanyi AH600 and the reference instrument of all other institutions had significant differences (all P<0.001), however, it was necessary to consider whether it was within the clinical acceptable range in combination with the results of the Bland-Altman consistency analysis. The ROC curve of HbA1c detected by Lanyi AH600 in 985 patients with diabetes and 3 423 patients with non-diabetes was analyzed, the area under curve (AUC) was 0.877, the standard error was 0.007, and the 95% confidence interval 95%CI was (0.864, 0.891), which was statistically significant (P<0.001). The maximum value of Youden index was 0.634, and the corresponding HbA1c cut point was 6.235%. The sensitivity and specificity of diabetes diagnosis were 76.2% and 87.2%, respectively. Conclusion: Among the hospitals and instruments currently included in this study, among these four hospitals included Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180), Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant Ⅱ), the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT), and the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT), the comparison between Lanyi AH600 and the reference instruments showed relatively good consistency, while the other 14 hospitals involved four different brands of reference instruments: Arkray, Bio-Rad, DOSOH, and Huizhong, Lanyi AH600 had good consistency with its comparison. The best cut point of the domestic Lanyi AH600 for detecting HbA1c in the diagnosis of diabetes is 6.235%.
Pregnancy
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Child
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Humans
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Female
;
Glycated Hemoglobin
;
Cohort Studies
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Diabetes Mellitus/diagnosis*
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Sensitivity and Specificity
;
ROC Curve
10.Genetic characteristics and survival analysis of 27 cases of juvenile myelomonocytic leukemia.
Juan Juan LI ; Tao HU ; Jun Hui LI ; Zhao Xia ZHANG ; Shun Qiao FENG ; Xiao Dong SHI ; Lei ZHANG ; Jinh CAO ; Ze Liang SONG ; Meng Ze HU ; Do Xiao ZHONG ; Mei YUE ; Wei FAN ; Rui Hong TANG ; Bing Han ZOU ; Rong LIU
Chinese Journal of Pediatrics 2023;61(1):56-60
Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ2=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ2=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ2=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.
Male
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Female
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Child
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Humans
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Child, Preschool
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Leukemia, Myelomonocytic, Juvenile/therapy*
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Retrospective Studies
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Survival Analysis
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Mutation
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Hematopoietic Stem Cell Transplantation


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