1.Mechanism study of SIRT3 alleviating oxidative-stress injury in renal tubular cells by promoting mitochondrial biogenesis via regulating mitochondrial redox balance
Yaojun LIU ; Jun ZHOU ; Jing LIU ; Yunfei SHAN ; Huhai ZHANG ; Pan XIE ; Liying ZOU ; Lingyu RAN ; Huanping LONG ; Lunli XIANG ; Hong HUANG ; Hongwen ZHAO
Organ Transplantation 2026;17(1):86-94
Objective To elucidate the molecular mechanism of sirtuin-3 (SIRT3) in regulating mitochondrial biogenesis in human renal tubular epithelial cells. Methods Cells were stimulated with different concentrations of H2O2 and divided into four groups: control (NC), 50 μmol/L H2O2, 110 μmol/L H2O2 and 150 μmol/L H2O2. SIRT3 protein expression was then measured. SIRT3 was knocked down with siRNA, and cells were further assigned to five groups: control (NC), negative-control siRNA (NCsi), SIRT3-siRNA (siSIRT3), NCsi+H2O2, and siSIRT3+H2O2. After 24 h, cellular adenosine triphosphate (ATP) and mitochondrial superoxide anion (O2•−) levels were determined, together with mitochondrial expression of SIRT3, peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α), nuclear respiratory factor 1 (NRF1), mitochondrial transcription factor A (TFAM), superoxide dismutase 2 (SOD2), acetylated-SOD2 and adenosine monophosphate activated protein kinase α1 (AMPKα1). Results The 110 and 150 μmol/L H2O2 decreased SIRT3 protein (both P<0.05). ATP and mitochondrial O2•− did not differ between NC and NCsi groups (both P>0.05). Compared to the NCsi group, the siSIRT3 group exhibited elevated O2•− level, decreased SIRT3 protein and increased expression levels of SOD2 and acetylated SOD2 protein (all P<0.05). Compared to the NCsi group, the NCsi+H2O2 group exhibited decreased cellular ATP levels, elevated mitochondrial O2•− levels, and reduced protein expression levels of SIRT3, SOD2, TFAM, AMPKα1, PGC-1α and NRF1 (all P<0.05). Compared with the siSIRT3 group, the siSIRT3+H2O2 group showed a decrease in cellular ATP levels, an increase in mitochondrial O2•− levels, a decrease in SIRT3, SOD2, TFAM, AMPKα1, PGC-1α and NRF1 protein expression levels and a decrease in acetylated SOD2 protein expression levels (all P<0.05). Compared with the NCsi+H2O2 group, the siSIRT3+H2O2 group showed a decrease in cellular ATP levels, an increase in mitochondrial O2•− levels, a decrease in SIRT3, AMPKα1, PGC-1α and NRF1, TFAM protein expression levels, and an increase in SOD2 and acetylated SOD2 protein expression levels (all P<0.05). Conclusions SIRT3 promotes mitochondrial biogenesis in tubular epithelial cells via the AMPK/PGC-1α/NRF1/TFAM axis, representing a key mechanism through which SIRT3 ameliorates oxidative stress-induced mitochondrial dysfunction.
2.The Mechanisms of Neurotransmitters and Their Receptors in Exercise Central Fatigue
Lu-Lu GUAN ; Bo-Te QI ; Du-Shuo FENG ; Jing-Wang TAN ; Meng CAO ; Yu ZOU
Progress in Biochemistry and Biophysics 2025;52(6):1321-1336
Exercise fatigue is a complex physiological and psychological phenomenon that includes peripheral fatigue in the muscles and central fatigue in the brain. Peripheral fatigue refers to the loss of force caused at the distal end of the neuromuscular junction, whereas central fatigue involves decreased motor output from the primary motor cortex, which is associated with modulations at anatomical sites proximal to nerves that innervate skeletal muscle. The central regulatory failure reflects a progressive decline in the central nervous system’s capacity to recruit motor units during sustained physical activity. Emerging evidence highlights the critical involvement of central neurochemical regulation in fatigue development, particularly through neurotransmitter-mediated modulation. Alterations in neurotransmitter release and receptor activity could influence excitatory and inhibitory signal pathways, thus modulating the perception of fatigue and exercise performance. Increased serotonin (5-HT) could increase perception of effort and lethargy, reduce motor drive to continue exercising, and contribute to exercise fatigue. Decreased dopamine (DA) and noradrenaline (NE) neurotransmission can negatively impact arousal, mood, motivation, and reward mechanisms and impair exercise performance. Furthermore, the serotonergic and dopaminergic systems interact with each other; a low 5-HT/DA ratio enhances motor motivation and improves performance, and a high 5-HT/DA ratio heightens fatigue perception and leads to decreased performance. The expression and activity of neurotransmitter receptors would be changed during prolonged exercise to fatigue, affecting the transmission of nerve signals. Prolonged high-intensity exercise causes excess 5-HT to overflow from the synaptic cleft to the axonal initial segment and activates the 5-HT1A receptor, thereby inhibiting the action potential of motor neurons and affecting the recruitment of motor units. During exercise to fatigue, the DA secretion is decreased, which blocks the binding of DA to D1 receptor in the caudate putamen and inhibits the activation of the direct pathway of the basal ganglia to suppress movement, meanwhile the binding of DA to D2 receptor is restrained in the caudate putamen, which activates the indirect pathway of the basal ganglia to influence motivation. Furthermore, other neurotransmitters and their receptors, such as adenosine (ADO), glutamic acid (Glu), and γ‑aminobutyric acid (GABA) also play important roles in regulating neurotransmitter balance and fatigue. The occurrence of central fatigue is not the result of the action of a single neurotransmitter system, but a comprehensive manifestation of the interaction between multiple neurotransmitters. This review explores the important role of neurotransmitters and their receptors in central motor fatigue, reveals the dynamic changes of different neurotransmitters such as 5-HT, DA, NE, and ADO during exercise, and summarizes the mechanisms by which these neurotransmitters and their receptors regulate fatigue perception and exercise performance through complex interactions. Besides, this study presents pharmacological evidence that drugs such as agonists, antagonists, and reuptake inhibitors could affect exercise performance by regulating the metabolic changes of neurotransmitters. Recently, emerging interventions such as dietary bioactive components intake and transcranial electrical stimulation may provide new ideas and strategies for the prevention and alleviation of exercise fatigue by regulating neurotransmitter levels and receptor activity. Overall, this work offers new theoretical insights into the understanding of exercise central fatigue, and future research should further investigate the relationship between neurotransmitters and their receptors and exercise fatigue.
3.Reliability and validity of the Chinese version of Supervision Evaluation and Supervisory Competence Scale
Hongrong ZOU ; Jun XU ; Jing WANG ; Ya ZHANG
Sichuan Mental Health 2025;38(3):279-284
BackgroundClinical supervision is a critical component in the training and professional development of psychological counselors. Scientifically evaluating the effectiveness of clinical supervision is essential, yet reliable and effective tools for such assessments are lacing in China. ObjectiveTo translate Supervision Evaluation and Supervision Competence (SE-SC) Scale into Chinese version and evaluate its reliability and validity in clinical supervision in China, so as to provide a tool for the evaluation of supervisory effectiveness. MethodsThe SE-SC scale was translated, back-translated and culturally adapted, followed by a pilot survey to develop the Chinese version of SE-SC scale. A total of 42 counselors engaged in clinical counseling and receiving supervision at a counseling center in Shanghai from July 2021 to February 2022 were selected as the study participants. Item analysis was conducted to assess item discrimination, with critical ratio method applied to determine which items retention. Hierarchical cluster analysis was performed to compare the structure of Chinese version with the original scale. Criterion-related validity and convergent validity were used to evaluate the validity of the scale, while Cronbach's α coefficient was used to assess its reliability. ResultsChinese version of SE-SC scale consisted of a total of 28 item, including six clusters. Registered supervisors scored significantly higher than internship supervisors on the total score and on clusters three, four, five and six (t=2.536, 2.747, 5.881, 3.718, 6.090, P<0.05). The total and cluster scores of the Chinese version of the SE-SC scale were positively correlated with self-rated supervision helpfulness and overall satisfaction (r=0.492~0.758, 0.412~0.815, P<0.01). The Cronbach's α coefficient for the overall scale was 0.975,with values for the six clusters were 0.938, 0.821, 0.962, 0.871, 0.884 and 0.823, respectively. ConclusionChinese version of SE-SC scale demonstrates good reliability and validity, and it can be considered as a promising assessment tool for evaluating the effectiveness of clinical supervision.
4.Prevalence of Schistosoma japonicum infections in wild rodents in key areas during the elimination phase
Chao LÜ ; Xiaojuan XU ; Jiajia LI ; Ting FENG ; Hai ZHU ; Yifeng LI ; Ling XU ; Zhihong FENG ; Huiwen JIANG ; Xiaoqing ZOU ; Wenjun WEI ; Zhiqiang QIN ; Yang HONG ; Shiqing ZHANG ; Jing XU
Chinese Journal of Schistosomiasis Control 2025;37(5):475-481
Objective To investigate the prevalence of Schistosoma japonicum infections in wild rodents in schistosomiasis-endemic areas of China, so as to provide insights into formulation of technical guidelines for monitoring of and the precise control strategy for S. japonicum infections in wild rodents during the elimination phase. Methods Two administrative villages where schistosomiasis was historically highly prevalent were selected each from Dongzhi County, Anhui Province, and Duchang County, Jiangxi Province as study villages. Wild rodents were captured from study villages with baited traps or cages at night in June and September, 2021. The number of rodents captured was recorded, and the rodent species was characterized based on morphologi-cal characteristics. Liver tissues were sampled from captured rodents for macroscopical observation of the presence of egg granu- lomas, and S. japonicum infection was detected simultaneously using liver tissue homogenate microscopy, examinations of mesenteric tissues for parasites, and modified Kato-Katz thick smear technique (Kato-Katz technique). A positive S. japonicum infection was defined as detection of S. japonicum eggs or adult worms by any of these methods. The rate of wild rodent capture and prevalence of S. japonicum infections in wild rodents were compared in different study villages and at different time periods, and the detection of S. japonicum infections in wild rodents was compared by different assays. Results The overall rate of wild ro- dent capture was 8.28% (237/2 861) in Dongzhi County, and the wild rodent capture rates were 9.24% (133/1 439) and 7.31% (104/1 422) in two study villages (χ2 = 3.503, P = 0.061), and were 8.59% (121/1 409) and 7.99% (116/1 452) in June and September, 2021, respectively (χ2 = 0.337, P = 0.561). The overall rate of wild rodent capture was 3.72% (77/2 072) in Duchang County, and the wild rodent capture rates were 6.91% (67/970) and 0.91% (10/1 102) in two study villages (χ2 = 51.901, P < 0.001), and were 4.13% (39/945) and 3.37% (38/1 127) in June and September, 2021, respectively (χ2 = 0.815, P = 0.365). Rattus norvegicus was the predominant rodent species captured in both counties, accounting for 70.04% (166/237) of all captured wild rodents in Dongzhi County and 88.31% (68/77) in Duchang County. No S. japonicum infection was detected in wild rodents captured in Duchang County. Nevertheless, the overall prevalence of S. japonicum infections was 51.05% (121/237) in wild rodents captured in Dongzhi County, with prevalence rates of 50.38% (67/133) and 51.92% (54/104) in two study villages (χ2 = 0.098, P = 0.755), and 54.31% (63/116) and 47.93% (58/121) in September and June, 2021, respectively (χ2 = 0.964, P = 0.326). Of 237 wild rodents captured in Dongzhi County, there were 140 (59.07%) rodents with visible hepatic egg granulomas, 117 (49.47%) tested positive for S. japonicum eggs by liver tissue homogenate microscopy, 34 (14.35%) tested positive for S. japonicum eggs with Kato-Katz technique; however, no adult S. japonicum worms were detected in mesenteric tissues. In addition, hepatic egg granulomas were found in all wild rodents tested positive for S. japonicum eggs with liver tissue homogenate microscopy. Conclusions The rate of wild rodent capture and prevalence of S. japonicum infection in wild rodents vary greatly in schistosomiasis-endemic areas of China, and the prevalence of S. japonicum infection is slightly higher in wild rodents captured in autumn than in summer. Liver tissue is recommended as the preferred sample for surveillance of S. japonicum infection in wild rodents, and a combination of macroscopical observation of hepatic egg granulomas and liver tissue homogenate microscopy may be a standard method for surveillance of S. japonicum infection in wild rodents.
5.Heat-sensitive moxibustion robot for improving depressive state in methamphetamine addicts during withdrawal period: a randomized controlled trial.
Yuexia JIANG ; Haiyan LI ; Wei HE ; Jing ZHOU ; Chunliang ZOU ; Dingyi XIE ; Rixin CHEN
Chinese Acupuncture & Moxibustion 2025;45(8):1061-1067
OBJECTIVE:
To observe the clinical efficacy of heat-sensitive moxibustion robot for improving the depressive state of methamphetamine addicts during withdrawal period.
METHODS:
A total of 60 patients with methamphetamine addiction accompanied with depressive state were randomly divided into an observation group (40 cases, 4 cases dropped out) and a control group (20 cases, 2 cases dropped out). The control group received routine health education and addiction treatment in compulsory isolation drug rehabilitation center. On the basis of the treatment in the control group, in the observation group, the heat-sensitive moxibustion robot was used to locate sensitive points at the Shenque (CV8) and Danzhong (CV17), and dual-point sparrow-pecking moxibustion was delivered for 60 min per session. The moxibustion therapy was performed 4 times in the 1st week, 3 times in the 2nd and 3rd weeks respectively, and 2 times in the 4th week, for 12 times totally. The scores of Hamilton depression scale (HAMD), self-rating depression scale (SDS), visual analogue scale (VAS) for drug craving, Hamilton anxiety scale (HAMA), self-rating anxiety scale (SAS), and Pittsburgh sleep quality index (PSQI) were observed before treatment, at the end of the 2nd and 4th weeks of treatment, and 4 weeks after the treatment completion (follow-up) in the two groups.
RESULTS:
At each time point after treatment, in the observation group, the HAMD, VAS, HAMA and PSQI scores were decreased compared with those before treatment (P<0.01, P<0.001); at the end of the 4th week of treatment and in follow-up, the SDS and SAS scores were decreased compared with those before treatment (P<0.001, P<0.01). Compared before treatment, there were no significant differences in the above scores at each time point after treatment in the control group (P>0.05). In the observation group, at each time point after treatment, the HAMD and VAS scores were lower than those in the control group (P<0.01, P<0.001, P<0.05); at the end of the 4th week of treatment and in follow-up, the SDS and HAMA scores were lower than those in the control group (P<0.05, P<0.001); at the end of the 4th week of treatment, the PSQI score was lower than that in the control group (P<0.01).
CONCLUSION
Heat-sensitive moxibustion robot effectively improves depression, anxiety and sleep quality, and reduces drug craving in methamphetamine addicts during withdrawal period.
Humans
;
Moxibustion/methods*
;
Male
;
Adult
;
Female
;
Methamphetamine/adverse effects*
;
Depression/therapy*
;
Middle Aged
;
Robotics
;
Young Adult
;
Amphetamine-Related Disorders/psychology*
;
Acupuncture Points
;
Substance Withdrawal Syndrome/psychology*
6.Processing technology of calcined Magnetitum based on concept of QbD and its XRD characteristic spectra.
De-Wen ZENG ; Jing-Wei ZHOU ; Tian-Xing HE ; Yu-Mei CHEN ; Huan-Huan XU ; Jian FENG ; Yue YANG ; Xin CHEN ; Jia-Liang ZOU ; Lin CHEN ; Hong-Ping CHEN ; Shi-Lin CHEN ; Yuan HU ; You-Ping LIU
China Journal of Chinese Materia Medica 2025;50(9):2391-2403
Guided by the concept of quality by design(QbD), this study optimizes the calcination and quenching process of calcined Magnetitum and establishes the XRD characteristic spectra of calcined Magnetitum, providing a scientific basis for the formulation of quality standards. Based on the processing methods and quality requirements of Magnetitum in the Chinese Pharmacopoeia, the critical process parameters(CPPs) identified were calcination temperature, calcination time, particle size, laying thickness, and the number of vinegar quenching cycles. The critical quality attributes(CQAs) included Fe mass fraction, Fe~(2+) dissolution, and surface color. The weight coefficients were determined by combining Analytic Hierarchy Process(AHP) and the criteria importance though intercrieria correlation(CRITIC) method, and the calcination process was optimized using orthogonal experimentation. Surface color was selected as a CQA, and based on the principle of color value, the surface color of calcined Magnetitum was objectively quantified. The vinegar quenching process was then optimized to determine the best processing conditions. X-ray diffraction(XRD) was used to establish the characteristic spectra of calcined Magnetitum, and methods such as similarity evaluation, cluster analysis, and orthogonal partial least squares-discriminant analysis(OPLS-DA) were used to evaluate the quality of the spectra. The optimized calcined Magnetitum preparation process was found to be calcination at 750 ℃ for 1 h, with a laying thickness of 4 cm, a particle size of 0.4-0.8 cm, and one vinegar quenching cycle(Magnetitum-vinegar ratio 10∶3), which was stable and feasible. The XRD characteristic spectra analysis method, featuring 9 common peaks as fingerprint information, was established. The average correlation coefficient ranged from 0.839 5-0.988 1, and the average angle cosine ranged from 0.914 4 to 0.995 6, indicating good similarity. Cluster analysis results showed that Magnetitum and calcined Magnetitum could be grouped together, with similar compositions. OPLS-DA discriminant analysis identified three key characteristic peaks, with Fe_2O_3 being the distinguishing component between the two. The final optimized processing method is stable and feasible, and the XRD characteristic spectra of calcined Magnetitum was initially established, providing a reference for subsequent quality control and the formulation of quality standards for calcined Magnetitum.
X-Ray Diffraction/methods*
;
Drugs, Chinese Herbal/chemistry*
;
Quality Control
;
Particle Size
7.Efficacy evaluation of repeated transcranial magnetic stimulation combined with bipolar depression triple therapy in reducing female adolescents' non-suicidal self-injury.
Yun SHEN ; Jing LI ; Ke ZOU ; Kuanwei YANG ; Yanping SHU ; Zhong ZHENG
Journal of Biomedical Engineering 2025;42(2):288-292
In order to explore effective ways to reduce non-suicidal self-injury (NSSI) among female adolescents, a total of 45 female adolescent patients with NSSI in West China Hospital of Sichuan University and Guizhou Second Provincial People's Hospital from June 2021 to June 2024 were selected randomly that divided into groups A, B and C, with 15 cases in each group. Group A was treated with repeated transcranial magnetic stimulation (rTMS) and bipolar depression triple therapy, and group B was treated with bipolar depression triple therapy to compare the effectiveness and safety. Group C received bipolar depression triple therapy combined with sham stimulation which only produced stimulating sounds but no stimulating magnetic field as a control in the study. After treatment, the Hamilton Anxiety Score (HAMA), Hamilton Depression Score (HAMD) and Nurses' Global Assessment of Suicide Risk (NGASR) in group A were significantly lower than those in group B and C ( P < 0.01). rTMS combined with bipolar depression triple therapy has a definite effect on reducing NSSI in female adolescents, which can reduce the incidence rate of short-term NSSI behavior in patients.
Humans
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Female
;
Adolescent
;
Self-Injurious Behavior/prevention & control*
;
Transcranial Magnetic Stimulation/methods*
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Bipolar Disorder/therapy*
;
Combined Modality Therapy
;
Treatment Outcome
8.Prefrontal dysfunction and mismatch negativity in adolescent depression: A multimodal fNIRS-ERP study.
Hongyi SUN ; Lin ZHANG ; Jing LI ; Zhenhua LI ; Jiaxi HUANG ; Zhong ZHENG ; Ke ZOU
Journal of Biomedical Engineering 2025;42(4):701-706
Early identification of adolescent depression requires objective biomarkers. This study investigated the functional near-infrared spectroscopy (fNIRS) activation patterns and mismatch negativity (MMN) characteristics in adolescents with first-episode mild-to-moderate depression. We enrolled 33 patients and 33 matched healthy controls, measuring oxyhemoglobin (Oxy-Hb) concentration in the frontal cortex during verbal fluency tasks via fNIRS, and recording MMN latency/amplitude at Fz/Cz electrodes using event-related potentials (ERP). Compared with healthy controls, the depression group showed significantly prolonged MMN latency [Fz: (227.88 ± 31.08) ms vs. (208.70 ± 25.35) ms, P < 0.01; Cz: (223.73 ± 29.03) ms vs. (204.18 ± 22.43) ms, P < 0.01], and obviously reduced Fz amplitude [(2.42 ± 2.18) μV vs. (5.65 ± 5.59) μV, P = 0.03]. A significant positive correlation was observed between MMN latencies at Fz and Cz electrodes ( P < 0.01). Oxy-Hb in left frontopolar prefrontal channels (CH15/17) was significantly decreased in patient group ( P < 0.05). Our findings suggest that adolescents with depression exhibit hypofunction in the left prefrontal cortex and impaired automatic sensory processing. The combined application of fNIRS and ERP techniques may provide an objective basis for early clinical identification.
Humans
;
Spectroscopy, Near-Infrared/methods*
;
Adolescent
;
Prefrontal Cortex/physiopathology*
;
Evoked Potentials/physiology*
;
Depression/physiopathology*
;
Female
;
Male
;
Oxyhemoglobins
;
Electroencephalography
9.Two cases of creatine deficiency syndrome caused by GAMT gene mutations and literature review.
Ting-Ting ZHAO ; Zou PAN ; Jian-Min ZHONG ; Hai-Yun TANG ; Fei YIN ; Jing PENG ; Chen CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(3):340-346
OBJECTIVES:
To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by GAMT gene mutations.
METHODS:
A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024.
RESULTS:
The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the GAMT gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial.
CONCLUSIONS
GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.
Child
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Female
;
Humans
;
Male
;
Creatine/deficiency*
;
Guanidinoacetate N-Methyltransferase/deficiency*
;
Intellectual Disability/genetics*
;
Mutation
;
Retrospective Studies
;
Rhabdomyolysis/genetics*
;
Language Development Disorders
;
Movement Disorders/congenital*
10.Genetic and clinical characteristics of children with RAS-mutated juvenile myelomonocytic leukemia.
Yun-Long CHEN ; Xing-Chen WANG ; Chen-Meng LIU ; Tian-Yuan HU ; Jing-Liao ZHANG ; Fang LIU ; Li ZHANG ; Xiao-Juan CHEN ; Ye GUO ; Yao ZOU ; Yu-Mei CHEN ; Ying-Chi ZHANG ; Xiao-Fan ZHU ; Wen-Yu YANG
Chinese Journal of Contemporary Pediatrics 2025;27(5):548-554
OBJECTIVES:
To investigate the genomic characteristics and prognostic factors of juvenile myelomonocytic leukemia (JMML) with RAS mutations.
METHODS:
A retrospective analysis was conducted on the clinical data of JMML children with RAS mutations treated at the Hematology Hospital of Chinese Academy of Medical Sciences, from January 2008 to November 2022.
RESULTS:
A total of 34 children were included, with 17 cases (50%) having isolated NRAS mutations, 9 cases (27%) having isolated KRAS mutations, and 8 cases (24%) having compound mutations. Compared to children with isolated NRAS mutations, those with NRAS compound mutations showed statistically significant differences in age at onset, platelet count, and fetal hemoglobin proportion (P<0.05). Cox proportional hazards regression model analysis revealed that hematopoietic stem cell transplantation (HSCT) and hepatomegaly (≥2 cm below the costal margin) were factors affecting the survival rate of JMML children with RAS mutations (P<0.05); hepatomegaly was a factor affecting survival in the non-HSCT group (P<0.05).
CONCLUSIONS
Children with NRAS compound mutations have a later onset age compared to those with isolated NRAS mutations. At initial diagnosis, children with NRAS compound mutations have poorer peripheral platelet and fetal hemoglobin levels than those with isolated NRAS mutations. Liver size at initial diagnosis is related to the prognosis of JMML children with RAS mutations. HSCT can improve the prognosis of JMML children with RAS mutations.
Humans
;
Leukemia, Myelomonocytic, Juvenile/therapy*
;
Mutation
;
Male
;
Female
;
Child, Preschool
;
Retrospective Studies
;
Child
;
Infant
;
GTP Phosphohydrolases/genetics*
;
Membrane Proteins/genetics*
;
Adolescent
;
Hematopoietic Stem Cell Transplantation
;
Proportional Hazards Models
;
Proto-Oncogene Proteins p21(ras)/genetics*
;
Prognosis

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