1.Neuroprotective Effects of Transcranial Magneto-acoustic Stimulation on Parkinson’s Disease Model Mice by Regulating Mitophagy and Mitochondrial Homeostasis
Shuai ZHANG ; Yan-Bin WANG ; Yi-Hao XU ; Jin-Rui MI ; Xiao-Chao LU ; Yu-Chen AN ; Ji-Zhou LIU ; Jia-Qi SUN
Progress in Biochemistry and Biophysics 2026;53(5):1457-1470
ObjectiveTranscranial magneto-acoustic stimulation (TMAS) is an emerging non-invasive neuromodulation technique that may provide a novel non-pharmacological intervention strategy for Parkinson's disease (PD). PD is characterized by the progressive degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNc), leading to motor impairments such as bradykinesia, tremor, and rigidity. Increasing evidence indicates that mitochondrial dysfunction and impaired mitochondrial quality control are central mechanisms underlying dopaminergic neuronal loss. In particular, abnormalities in mitophagy and mitochondrial fission-fusion balance contribute substantially to oxidative stress, energy metabolic failure, and neuronal injury. At present, most clinical treatments for PD mainly alleviate symptoms but do not effectively halt disease progression. Therefore, exploring new interventions targeting the core pathological mechanisms is of considerable significance. This study aims to investigate whether TMAS can improve neural damage and motor dysfunction in PD mice by regulating mitophagy and the fission/fusion dynamic balance, thereby providing theoretical and experimental support for its application in PD treatment. MethodsMale C57BL/6 mice were used in this study. A PD model was established by intraperitoneal injection of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) for 7 consecutive days. After model induction, mice in the intervention group received TMAS once daily for 14 consecutive days, whereas the corresponding control group received sham stimulation. The stimulation target was positioned over the primary motor cortex (M1). Motor performance was evaluated using the pole test and the open-field test. To verify the activation effect of TMAS on the target cortical region, c-Fos immunohistochemistry was performed in the M1. To assess nigral dopaminergic neuronal injury, tyrosine hydroxylase (TH) immunohistochemistry was used to quantify TH-positive neurons in the SNc. Mitochondrial function was evaluated by measuring reactive oxygen species (ROS) levels and adenosine triphosphate (ATP) content in the SNc. Western blot was further performed to determine the expression of mitophagy-related proteins, including PINK1, Parkin, LC3-II, and p62, as well as mitochondrial dynamics-related proteins, including Drp1 and Opa1. ResultsTMAS significantly increased the number of c-Fos-positive cells in M1 (P<0.000 1), indicating effective activation of neurons in the targeted cortical region. Compared with the control group, MPTP-treated mice exhibited marked motor dysfunction, including a significant reduction in total distance traveled in the open-field test (P<0.000 1) and mean speed (P=0.000 1), as well as significant prolongation of turn time and total climbing time in the pole test (P<0.000 1). These behavioral impairments were accompanied by a substantial loss of TH-positive dopaminergic neurons in the SNc, whereas TMAS significantly increased TH-positive neuron survival (P<0.000 1). In parallel, MPTP induced a pronounced increase in ROS levels and a significant reduction in ATP content, indicating severe mitochondrial dysfunction and energy metabolism impairment (P<0.01). TMAS treatment significantly improved motor performance, as reflected by the reversal of MPTP-induced impairment in the open-field and pole tests, and significantly reduced ROS accumulation (P<0.01) while restoring ATP production (P<0.001). At the molecular level, MPTP markedly downregulated PINK1 and Parkin, decreased p62 expression, increased LC3-II accumulation, elevated Drp1 expression, and reduced Opa1 expression, whereas TMAS significantly reversed these abnormalities, suggesting restoration of mitophagy-related mitochondrial quality control and re-establishment of mitochondrial fission-fusion balance. Collectively, these findings indicate that TMAS ameliorates MPTP-induced neurotoxicity and restores mitochondrial homeostasis and energy metabolism. ConclusionTMAS effectively attenuates neural damage and improves motor dysfunction in MPTP-induced PD mice. Its neuroprotective effects are closely associated with multidimensional regulation of the mitochondrial quality control system, including restoration of PINK1/Parkin-mediated mitophagy and rebalancing of Drp1/Opa1-related mitochondrial dynamics. Rather than acting only as a symptomatic neuromodulatory intervention, TMAS may influence a key pathological axis of PD by improving mitochondrial homeostasis in SNc and protecting nigral dopaminergic neurons. These findings provide experimental evidence supporting TMAS as a promising non-invasive physical intervention for PD.
2.Neuroprotective Effects of Transcranial Magneto-acoustic Stimulation on Parkinson’s Disease Model Mice by Regulating Mitophagy and Mitochondrial Homeostasis
Shuai ZHANG ; Yan-Bin WANG ; Yi-Hao XU ; Jin-Rui MI ; Xiao-Chao LU ; Yu-Chen AN ; Ji-Zhou LIU ; Jia-Qi SUN
Progress in Biochemistry and Biophysics 2026;53(5):1457-1470
ObjectiveTranscranial magneto-acoustic stimulation (TMAS) is an emerging non-invasive neuromodulation technique that may provide a novel non-pharmacological intervention strategy for Parkinson's disease (PD). PD is characterized by the progressive degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNc), leading to motor impairments such as bradykinesia, tremor, and rigidity. Increasing evidence indicates that mitochondrial dysfunction and impaired mitochondrial quality control are central mechanisms underlying dopaminergic neuronal loss. In particular, abnormalities in mitophagy and mitochondrial fission-fusion balance contribute substantially to oxidative stress, energy metabolic failure, and neuronal injury. At present, most clinical treatments for PD mainly alleviate symptoms but do not effectively halt disease progression. Therefore, exploring new interventions targeting the core pathological mechanisms is of considerable significance. This study aims to investigate whether TMAS can improve neural damage and motor dysfunction in PD mice by regulating mitophagy and the fission/fusion dynamic balance, thereby providing theoretical and experimental support for its application in PD treatment. MethodsMale C57BL/6 mice were used in this study. A PD model was established by intraperitoneal injection of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) for 7 consecutive days. After model induction, mice in the intervention group received TMAS once daily for 14 consecutive days, whereas the corresponding control group received sham stimulation. The stimulation target was positioned over the primary motor cortex (M1). Motor performance was evaluated using the pole test and the open-field test. To verify the activation effect of TMAS on the target cortical region, c-Fos immunohistochemistry was performed in the M1. To assess nigral dopaminergic neuronal injury, tyrosine hydroxylase (TH) immunohistochemistry was used to quantify TH-positive neurons in the SNc. Mitochondrial function was evaluated by measuring reactive oxygen species (ROS) levels and adenosine triphosphate (ATP) content in the SNc. Western blot was further performed to determine the expression of mitophagy-related proteins, including PINK1, Parkin, LC3-II, and p62, as well as mitochondrial dynamics-related proteins, including Drp1 and Opa1. ResultsTMAS significantly increased the number of c-Fos-positive cells in M1 (P<0.000 1), indicating effective activation of neurons in the targeted cortical region. Compared with the control group, MPTP-treated mice exhibited marked motor dysfunction, including a significant reduction in total distance traveled in the open-field test (P<0.000 1) and mean speed (P=0.000 1), as well as significant prolongation of turn time and total climbing time in the pole test (P<0.000 1). These behavioral impairments were accompanied by a substantial loss of TH-positive dopaminergic neurons in the SNc, whereas TMAS significantly increased TH-positive neuron survival (P<0.000 1). In parallel, MPTP induced a pronounced increase in ROS levels and a significant reduction in ATP content, indicating severe mitochondrial dysfunction and energy metabolism impairment (P<0.01). TMAS treatment significantly improved motor performance, as reflected by the reversal of MPTP-induced impairment in the open-field and pole tests, and significantly reduced ROS accumulation (P<0.01) while restoring ATP production (P<0.001). At the molecular level, MPTP markedly downregulated PINK1 and Parkin, decreased p62 expression, increased LC3-II accumulation, elevated Drp1 expression, and reduced Opa1 expression, whereas TMAS significantly reversed these abnormalities, suggesting restoration of mitophagy-related mitochondrial quality control and re-establishment of mitochondrial fission-fusion balance. Collectively, these findings indicate that TMAS ameliorates MPTP-induced neurotoxicity and restores mitochondrial homeostasis and energy metabolism. ConclusionTMAS effectively attenuates neural damage and improves motor dysfunction in MPTP-induced PD mice. Its neuroprotective effects are closely associated with multidimensional regulation of the mitochondrial quality control system, including restoration of PINK1/Parkin-mediated mitophagy and rebalancing of Drp1/Opa1-related mitochondrial dynamics. Rather than acting only as a symptomatic neuromodulatory intervention, TMAS may influence a key pathological axis of PD by improving mitochondrial homeostasis in SNc and protecting nigral dopaminergic neurons. These findings provide experimental evidence supporting TMAS as a promising non-invasive physical intervention for PD.
3.Research Tackling Paradigm and Technological Layout Strategies Based on Erectile Dysfunction, A Clinical Dominant Disease of Traditional Chinese Medicine
Qi ZHAO ; Yun CHEN ; Baoxing LIU ; Xuejun SHANG ; Fei SUN ; Xiaozhi ZHAO ; Zhigang WU ; Chao SUN ; Peihai ZHANG ; Wanjun CHENG ; Xing ZHOU ; Zhan QIN ; Yufeng PAN ; Weiwei TAO ; Jianhuai CHEN ; Mei MO ; Xiaoxiao ZHANG ; Xing ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):291-299
To thoroughly implement the strategic deployment outlined in the Opinions of the Central Committee of the Communist Party of China and the State Council on Promoting the Inheritance and Innovative Development of Traditional Chinese Medicine regarding research on dominant diseases of traditional Chinese medicine and to uphold the development philosophy of equal emphasis on traditional Chinese medicine and western medicine,the China Association of Chinese Medicine has fully played a leading academic role by systematically organizing and conducting a series of academic youth salons on clinical dominant diseases of traditional Chinese medicine. On September 13,2024,the 36th Youth Salon on Clinical Dominant Diseases was successfully held in Nanjing,focusing on the advantages of traditional Chinese medicine and the integrative traditional Chinese medicine and western medicine in the diagnosis and treatment of erectile dysfunction (ED). The conference brought together leading experts from traditional Chinese medicine,western medicine,and interdisciplinary fields,facilitating in-depth multidisciplinary discussions that led to key consensus on optimizing traditional Chinese medicine treatment protocols for ED,researching and developing new drugs of traditional Chinese medicine,and advancing interdisciplinary development in traditional Chinese medicine. This salon systematically sorted out the clinical strengths and distinctive features of traditional Chinese medicine in the diagnosis and treatment of ED. Based on current research foundations and clinical needs,it identified key directions for future scientific layout and scientific research tackling: (1) Standardization of syndrome differentiation system of traditional Chinese medicine for ED. (2) Optimization and standardization of intervention methods of integrated traditional Chinese medicine and western medicine. (3) High-quality clinical research guided by evidence-based medicine. (4) In-depth analysis of the pharmacological mechanisms of traditional Chinese medicine in the treatment of ED. (5) Clinical translation and application promotion of new drugs of traditional Chinese medicine. (6) Interdisciplinary integration and innovation in traditional Chinese medicine. For each research direction,key focus areas,expected objectives,and clinical value were further refined,along with the establishment of a scientifically sound priority funding level evaluation system. Therefore,building on the series of salons on the ED-focused dominant diseases of traditional Chinese medicine,this paper provides standardized guidance for clinical practice of traditional Chinese medicine in ED management,effectively contributing to the high-quality development of traditional Chinese medicine. It serves as a valuable reference for national scientific and technological strategic layout, research and development decision-making in new drugs of traditional Chinese medicine,research topic planning,and clinical guideline formulation.
4.Correlation between serum 25-hydroxyvitamin D levels and 24-h urinary calcium excretion and hypercalciuria in Chinese adults
Li SHEN ; Hao ZHANG ; Qi LU ; Shanshan LI ; Chao GAO ; Yazhao MEI ; Hua YUE ; Xiangtian YU ; Qi YAO ; Yanan HUO ; Yuhong ZENG ; Yin JIANG ; Zhongjian XIE ; Aijun CHAO ; Xiaolan JIN ; Li MAO ; Zhenlin ZHANG
Chinese Journal of Internal Medicine 2025;64(4):318-324
Objective:To investigate the association between serum 25-hydroxyvitamin D [25(OH)D] levels and 24-h urinary calcium excretion (24-h UCaE) and hypercalciuria in Chinese adults.Methods:This cross-sectional study was conducted from March 2022 to March 2023 in nine cities in China and included 1 239 residents. Demographic characteristics were collected through questionnaires and physical examinations, fasting blood samples were assessed for bone metabolism indicators, and 24-h urine samples were used to determine the 24-h UCaE. Multiple linear regression analysis was used to explore the relationship between serum 25(OH)D and 24-h UCaE and bone metabolism indexes. The relationship between serum 25(OH)D and hypercalciuria was analyzed using a multiple logistic regression model combined with restricted cubic spline modeling.Results:The mean participant age was (47.9±18.1) years, of which 453 (36.6%) were male. The percentages of vitamin D sufficiency, insufficiency, and deficiency were 7.6% (94/1 239), 29.0% (359/1 239), and 63.4% (786/1 239), respectively. The multiple linear regression model showed that after adjusting for the covariates the 24-h UCaE gradually increased with higher levels of 25(OH)D ( P overall <0.001, P nonlinear <0.001). The logistic regression analysis revealed that compared with the vitamin D deficient group, the OR for the prevalence of hypercalciuria in the vitamin D sufficient and vitamin D insufficient groups were 3.290 (95% CI 1.745 to 6.202) and 3.742 (95% CI 2.458 to 5.697), respectively. The results of the restricted cubic spline modeling showed a positive nonlinear relationship between 25(OH)D and the prevalence of hypercalciuria ( P overall <0.001, P nonlinear <0.001). The prevalence of hypercalciuria increased when 25(OH)D was >17.00 μg/L and peaked at 26.71 μg/L, after which there was a decreasing trend in the prevalence of hypercalciuria with increasing 25(OH)D. Conclusion:Associations between serum 25(OH)D levels and urinary calcium excretion and the prevalence of hypercalciuria were observed in the Chinese adult population.
5.Study of dosimetric comparison of auto plan and fall back plan of radiotherapy after breast conserving surgery for breast cancer based on Ethos adaptive radiotherapy system
Chao LI ; Lu CAO ; Weixiang QI ; Longyan DUAN
China Medical Equipment 2025;22(3):10-16
Objective:To compare and research dosimetric differences between auto plan and fall back plan in Ethos adaptive radiotherapy system in radiotherapy after breast conserving surgery for breast cancer,and explore the clinical value of two techniques under the Ethos platform in the radiotherapy after breast conserving surgery.Methods:The data of a total of 15 patients with breast cancer,who received radiotherapy after breast conserving surgery for breast cancer at Ruijin Hospital,Shanghai Jiao Tong University School of Medicine in 2022,were selected.Based on the Ethos planning system,the auto plans of the average score of 7 fields(7F_IMRT),9 field(9F_IMRT)and 12 field(12F_IMRT),as well as a fall back plan of 12 fields,were designed respectively for each patient.The dosimetric differences of conformity index(CI)and homogeneity index(HI)of dose distribution of target region,and the dose of organs at risk(OAR)were compared and evaluated.Results:The fall back plan can improve dose distribution of target region,and the average HI value of the dose of target region of 15 patients was 0.020±0.005,which was superior to those[7F_IMRT(0.065±0.015),9F_IMRT(0.024±0.004)and 12F_IMRT(0.024±0.0045)]of 3 kinds of auto plans,and the differences of them between two kinds of plans were significant(F=12.687,3.638,4.885,P<0.05).In 8 patients with breast cancer at left side,the mean dose(Dmean),volume percentages in receiving 5,10,20,30 Gy doses(V5Gy,V10Gy,V20Gy,V30Gy)in the affected side of lung in fall back plan were better than those in auto plan,and the differences of them between two kinds of plans were significant(F=24.31,64.59,18.02,7.32,5.74,P<0.05).The average Dmean of receiving dose of heart,V5Gy,V10Gy and V30Gy of fall back plan were respectively(244.83±53.93)cGy,(9.64±2.94)%,(4.28±2.0)%and(0.51±0.5)%,which were better than those of three kinds of auto plans,and the differences of them between two kinds of plans were significant(F=10.17,12.05,4.59,3.95,P<0.05).The Dmean and V5Gy of the health side of lung,and Dmean of health side of breast in fall back plan were better than those in three kinds of auto plans,and the differences of them between two kinds of plans were significant(F=27.99,6.26,35.89,P<0.05).In 7 patients with breast cancer at right side,the Dmean,V5Gy,V10Gy,V20Gy and V30Gy of affected side of lung in fall back plan were better than those of three kinds of auto plans,and the differences of them between two kinds of plans were significant(F=3.43,3.85,2.32,2.36,3.59,P<0.05).The Dmax,Dmean and V5Gy of heart in fall back plan were all better than those of three kinds of auto plans,and the differences of them between two kinds of plans were significant(F=10,10.22,3.96,P<0.05).The Dmean and V5Gy of health side of lung,and the Dmean of health side of breast in fall back plan were better than those in three kinds of auto plans,and the differences of them between two plans were significant(F=20.87,4.17,59.83,P<0.05).Conclusion:Compared with auto plan of Ethos system of 7F_IMRT,9F_IMRT and 12F_IMRTB,the homogeneity of target region of the Fall Back plan is better,and the doses of lung and heart of affected side of that are lower,and the doses of other OAR all were within the requirement of clinical limitation.Fall back plan has higher clinical application value in radiotherapy after breast conserving surgery for breast cancer.
6.Emd-D inhibited ovarian cancer progression via PFKFB4-dependent glycolysis and apoptosis.
Xin ZHAO ; Chao CHEN ; Xuefei FENG ; Haoqi LEI ; Lingling QI ; Hongxia ZHANG ; Haiying XU ; Jufeng WAN ; Yan ZHANG ; Baofeng YANG
Chinese Journal of Natural Medicines (English Ed.) 2025;23(4):431-442
Ovarian cancer poses a significant threat to women's health, necessitating effective therapeutic strategies. Emd-D, an emodin derivative, demonstrates enhanced pharmaceutical properties and bioavailability. In this study, Cell Counting Kit 8 (CCK8) assays and Ki-67 staining revealed dose-dependent inhibition of cell proliferation by Emd-D. Migration and invasion experiments confirmed its inhibitory effects on OVHM cells, while flow cytometry analysis demonstrated Emd-D-induced apoptosis. Mechanistic investigations elucidated that Emd-D functions as an inhibitor by directly binding to the glycolysis-related enzyme PFKFB4. This was corroborated by alterations in intracellular lactate and pyruvate levels, as well as glucose transporter 1 (GLUT1) and hexokinase 2 (HK2) expression. PFKFB4 overexpression experiments further supported the dependence of Emd-D on PFKFB4-mediated glycolysis and SRC3/mTORC1 pathway-associated apoptosis. In vivo experiments exhibited reduced xenograft tumor sizes upon Emd-D treatment, accompanied by suppressed glycolysis and increased expression of Bax/Bcl-2 apoptotic proteins within the tumors. In conclusion, our findings demonstrate Emd-D's potential as an anti-ovarian cancer agent through inhibition of the PFKFB4-dependent glycolysis pathway and induction of apoptosis. These results provide a foundation for further exploration of Emd-D as a promising drug candidate for ovarian cancer treatment.
Female
;
Humans
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Ovarian Neoplasms/physiopathology*
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Phosphofructokinase-2/genetics*
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Apoptosis/drug effects*
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Glycolysis/drug effects*
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Animals
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Cell Line, Tumor
;
Mice
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Cell Proliferation/drug effects*
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Emodin/administration & dosage*
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Mice, Nude
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Mice, Inbred BALB C
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Hexokinase/metabolism*
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Xenograft Model Antitumor Assays
7.Traumatic ectopic testis with torsion:A case report and literature review
Qi-chao CHEN ; Zheng-cheng SHENG ; Hao-wei HE ; Xiu-juan MENG ; Ping ZHANG ; Jin-lu SUN ; Wei ZHANG
National Journal of Andrology 2025;31(3):226-228
Objective:To investigate the clinical diagnosis,treatment and prognosis of traumatic ectopic testis with torsion.Methods:We retrospectively analyzed the clinical data on a case of traumatic ectopic testis with torsion and reviewed relevant litera-ture.Results:After diagnosed with traumatic ectopic testis with torsion,the patient underwent exploratory operation for confirmation of orchiocatabasis,followed by testicular reduction and fixation.Follow-up visit at 1 month after surgery showed good blood supply and no obvious testicular atrophy.Conclusion:Traumatic ectopic testis with torsion is an extremely rare emergency condition,for which color Doppler ultrasonography is an effective means of examination.Once suspected of or confirmed with the problem,the patient should receive exploratory surgery,testicular reduction and fixation within 6 hours,and close postoperative observation.
8.Comparison of bowel preparation for colonoscopy between oral sulfate solution and polyethylene glycol electrolytes powder:a cohort study based propensity score matching
Lijun ZHENG ; Tiantian GUO ; Ruixiao ZHANG ; Yuemei WANG ; Yueying LI ; Chao ZHANG ; Huiyan LI ; Hao XU ; Qi YANG
China Journal of Endoscopy 2025;31(4):18-24
Objective To compare the efficacy,acceptability and safety of a low-volume magnisium sodicum potassium sulfate oral sulfate solution(OSS)with polyethylene glycol(PEG)electrolytes powder in bowel preparation for colonoscopy.Methods A prospective,single-blinded and single-center cohort study was conducted.The ambulatory and hospitalized 1 037 patients who underwent colonoscopy from April 2023 to January 2024 were enrolled.Participants were divided into OSS group(639 cases)and PEG group(398 cases),according to the bowel cleansing drugs taken orally.After propensity score matching(PSM),each group included 385 cases.The success rate of bowel preparation,scores of Boston bowel preparation scale(BBPS),medication taste,patients'satisfaction and the occurrence of adverse events were compared.Results The success rate of bowel preparation in the OSS group was 96.4%(371/385),higher than the 91.7%(353/385)in the PEG group,and the difference was statistically significant(P<0.05).The total and segmented BBPS scores of the OSS group were higher than those of the PEG group,the differences were statistically significant(P<0.05).The medication taste and patients satisfaction of the OSS group were significantly better than those of the PEG group,the differences were statistically significant(P<0.05).There was no statistically significant difference in incidence of adverse reactions between the two groups(P=0.800).Conclusion Compared to PEG,OSS has a better intestinal cleaning effect,medication taste,and patients satisfaction.In addition,OSS has security that is not inferior to PEG.
9.Application effect of gasless endoscopic thyroidectomy via axillary approach in early thyroid tumor
Yan HE ; Mian ZHOU ; Tong SHI ; Qi ZHANG ; Xiao-chao ZHU
Journal of Regional Anatomy and Operative Surgery 2025;34(4):329-332
Objective To explore the effects of gasless endoscopic thyroidectomy via axillary approach on neck function and aesthetic effect in patients with early thyroid tumor.Methods A prospective study was conducted on 116 patients with early thyroid tumor admitted to our hospital from December 2020 to December 2023.They were divided into the observation group and the control group according to block random method,with 58 cases in each group.Patients in the control group underwent open thyroidectomy,while patients in the observation group underwent gasless endoscopic thyroidectomy via axillary approach.The surgical indicators,neck function,cosmetic effect,and complications of patients in the two groups were compared.Results Compared with the control group,the observation group had a longer surgical time(P<0.05),less intraoperative bleeding and postoperative drainage volume(P<0.05).There were statistically significant differences in terms of the time point,inter-group and interaction effects of the neck injury index and the time point and inter-group effects of swallowing disorder index of patients between the two groups(P<0.05).Compared with 3 days after surgery,the neck injury index and swallowing disorder index at 6 months and 12 months after surgery of patients in both groups decreased(P<0.05),and the neck injury index and swallowing disorder index at 6 months and 12 months after surgery of patients in the observation group were lower than those in the control group(P<0.05).Compared with the control group,the observation group had better cosmetic effects(P<0.05).The total incidence of complications of patients in the observation group was lower than that in the control group(P<0.05).Conclusion Gasless endoscopic thyroidectomy via axillary approach has better efficacy for early thyroid tumor,which can effectively improve neck function and aesthetic effect,promote the recovery of patients,and has high safety and patient satisfaction.
10.Analysis of SRSF2 Gene Mutation in Patients with Chronic Myelomonocytic Leukemia
Chang-Rui TAO ; Bi-Tao XIAO ; Pin WU ; Zhi-Qi WANG ; Hong-Ying CHAO
Journal of Experimental Hematology 2025;33(1):20-24
Objective:To characterize the occurrence of SRSF2 mutations in chronic myelomonocytic leukemia(CMML)patients and their correlation with other gene mutations and some clinical characteristics.Methods:The clinical data of 43 CMML patients diagnosed in Changzhou No.2 People's Hospital and Wuxi No.2 People's Hospital were retrospectively analyzed,and gene mutations detection was performed using next-generation sequencing(NGS).Results:Among the 43 CMML patients the SRSF2 mutation detection rate was 39.5%(17/43).These mutations clustered collectively at the proline 95 residue in the splicing factor SRSF2.The other genes with mutation rate greater than 15%were ASXL1(48.8%),TET2(41.9%),NRAS(30.2%),RUNX1(25.6%),and SETBP1(16.3%).Among SRSF2-mutated patients,the most common co-mutation was ASXL1,followed by TET2.The median age of SRSF2 mutant patients was significantly higher than that of the wild type(68 vs 51.5,P<0.001),but there was not statistically significant differences in gender,peripheral leukocytes,hemoglobin,platelets,karyotype,and blast cell compared to the wild-type(all P>0.05).Notably,4 out of the 6 SRSF2mutASXL1mut CMML patients developed leukemia transformation,and 1 out of 10 SRSF2wt ASXL1wt CMML patients developed leukemia transformation,with statistically significant difference in leukemia transformation rates(66.7%vs 10%,P=0.036).Conclusion:SRSF2 mutations have a high incidence in CMML,occurring frequently in older patients,and often coexisting with ASXL1 and TET2 mutations.Patients with CMML carrying both SRSF2mutASXL1mut double mutations have a higher risk of acute leukemia transformation.

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