1.Clinical Advantages of Traditional Chinese Medicine in Treatment of Childhood Simple Obesity: Insights from Expert Consensus
Qi ZHANG ; Yingke LIU ; Xiaoxiao ZHANG ; Guichen NI ; Heyin XIAO ; Junhong WANG ; Liqun WU ; Zhanfeng YAN ; Kundi WANG ; Jiajia CHEN ; Hong ZHENG ; Xinying GAO ; Liya WEI ; Qiang HE ; Qian ZHAO ; Huimin SU ; Zhaolan LIU ; Dafeng LONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):238-245
Childhood simple obesity has become a significant public health issue in China. Modern medicine primarily relies on lifestyle interventions and often suffers from poor long-term compliance, while pharmacological options are limited and associated with potential adverse effects. Traditional Chinese Medicine (TCM) has a long history in the prevention and management of this condition, demonstrating eight distinct advantages, including systematic theoretical foundation, diversified therapeutic approaches, definite therapeutic efficacy, high safety profile, good patient compliance, comprehensive intervention strategies, emphasis on prevention, and stepwise treatment protocols. Additionally, TCM is characterized by six distinctive features: the use of natural medicinal substances, non-invasive external therapies, integration of medicinal dietetics, simple exercise regimens, precise syndrome differentiation, and diverse dosage forms. By combining internal and external treatments, TCM facilitates individualized regimen adjustment and holistic regulation, demonstrating remarkable effects in improving obesity-related metabolic indicators, regulating constitutional imbalance, and promoting healthy behaviors. However, challenges remain, such as inconsistent operational standards, insufficient high-quality clinical evidence, and a gap between basic research and clinical application. Future efforts should focus on accelerating the standardization of TCM diagnosis and treatment, conducting multicenter randomized controlled trials, and fostering interdisciplinary integration, so as to enhance the scientific validity and international recognition of TCM in the prevention and treatment of childhood obesity.
2.Exploring the mechanism of myofascial trigger points deactivation by Tuina via the TGF-β1/Smad3 signaling pathway
Liya TANG ; Xiaowei LIU ; Jiadong ZANG ; Yuqiao ZHANG ; Xiang FENG ; Wu LI ; Jiangshan LI
Digital Chinese Medicine 2026;9(1):103-113
Objective:
To investigate whether Tuina alleviates fibrotic symptoms in myofascial trigger points (MTrPs) by regulating transforming growth factor (TGF)-β1/Smad3 signaling pathway, thereby deactivating these points.
Methods:
This study comprised two experimental phases. In phase 1, 27 specific pathogen-free (SPF) grade female Sprague-Dawley (SD) rats were randomized into three groups: control 1, model 1, and Tuina 1 groups. Model 1 and Tuina 1 groups underwent an 8-week MTrPs modeling protocol involving blunt impact and eccentric exercise. After successful modeling, rats in Tuina 1 group received manual pressing on nodules or cord-like taut bands on the medial aspect of the left hindlimb. Pain sensitivity and tissue stiffness were evaluated via pressure pain threshold (PPT) and soft tissue tension (STT). Muscle histopathology and fibrosis were observed using hematoxylin and eosin (HE) and Masson staining. Inflammatory factors in muscle were measured by enzyme-linked immunosorbent assay (ELISA), while immunofluorescence (IF) and Western blot (WB) were used to detect the expression levels of α-smooth muscle actin (α-SMA), collagen Ⅲ, and TGF-β1. In phase 2, 45 SPF female SD rats were randomized into five groups: control 2, model 2, Tuina 2, TGF-β1 inhibitor (TI), and Tuina + TGF-β1 agonist (Tuina + TA) groups. All groups except control 2 underwent standardized MTrPs modeling. Rats in Tuina 2 group received consistent pressing manipulation. TI group received intraperitoneal injections of oxymatrine, while Tuina + TA group received intraperitoneal injections of SRI-011381 hydrochloride followed by the same pressing protocol as Tuina 2 group. WB was used to detect the expression of collagen I, collagen III, TGF-β1, and phosphorylated-Smad3 (p-Smad3)/Smad3.
Results:
In phase 1, Tuina significantly improved PPT and STT in MTrPs of rats (P < 0.01), reversed pathological damages including disorganized muscle fiber arrangement, abnormal myocyte morphology, and exacerbated fibrosis. In addition, in MTrPs of rats in model 1 group, expression levels of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB), interleukin (IL)-1β, IL-6, tumor necrosis factor (TNF)-α, and fibrosis markers (α-SMA, collagen I, and collagen III) were upregulated, and all exhibited a significant downward trend after Tuina intervention (P < 0.05 or P < 0.01). This indicates that the therapeutic effects of Tuina are directly associated with reduced local inflammation and fibrosis in MTrPs. In phase 2, compared with model 2 group, rats in TI and Tuina 2 groups had decreased expression levels of TGF-β1 and p-Smad3/Smad3 in MTrPs, alongside reduced levels of inflammatory factors (IL-1β, IL-6, NF-κB, and TNF-α) and fibrosis markers (α-SMA, collagen I, and collagen III) (P < 0.05 or P < 0.01). When co-administered with TGF-β1 agonist, the therapeutic effects of Tuina were significantly attenuated, with rebounded TGF-β1 expression and p-Smad3/Smad3 in local MTrPs, and fibrosis and inflammatory responses were re-exacerbated (P < 0.05 or P < 0.01).
Conclusion
Tuina can effectively reduce inflammatory responses and fibrosis in MTrPs tissue, and its mechanism is closely related to the inhibition of the TGF-β1/Smad3 signaling pathway, which plays a critical role in Tuina-mediated regulation of MTrPs fibrosis.
3.Mechanism of Qingre antai decoction in improving pregnancy outcomes of threatened abortion rats with blood heat syndrome based on JAK2/STAT3 and PI3K/AKT dual signaling pathways
Liya MA ; Yanduo SHEN ; Jiale ZHANG ; Liujun WU ; Bingheng XIE ; Xingfei WU ; Chen LIU ; Minghao ZHANG ; Xuelin ZHANG ; Dawei ZHANG
China Pharmacy 2026;37(9):1127-1133
OBJECTIVE To explore the mechanism by which Qingre antai decoction improves pregnancy outcomes of threatened abortion rats with blood heat syndrome. METHODS The pregnant rats were randomly divided into normal group, model group, dydrogesterone group (0.002 g/kg), and Qingre antai decoction group (44.1 g/kg), with 13 rats in each group. Except for normal group, other groups were given warming-yang Chinese medicine and corresponding drugs intragastrically, once a day, for 12 consecutive days. On the 13th day of pregnancy, a single intragastric administration of mifepristone (5 mg/kg) was performed to establish a model of threatened abortion with blood heat syndrome. On the 14th day of pregnancy, the abortion rate and uterine coefficient were calculated; the pathological morphology of pregnant uterine was observed; the serum levels of 3,5,3′-triiodothyronine (T3), thyroid hormone (T4), thyroid stimulating hormone (TSH), as well as the levels of vascular endothelial growth factor (VEGF) and nitric oxide (NO) in the pregnant uterus were all determined; the expressions of mRNA and protein related to Janus kinase 2 (JAK2)/signal transducer and activator of transcription 3 (STAT3) and phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) pathways were detected. RESULTS Compared with normal group, the model group exhibited endometrial tissue damage, a reduced number of decidual cells, and a significant presence of blood stasis within the uterus; abortion rate, the serum levels of T3, T4 and TSH, the mRNA expressions of JAK2, STAT3 and suppressor of cytokine signaling 3 (SOCS3) as well as protein expressions of p-JAK2, p-STAT3 and SOCS3 in the pregnant uterus were increased significantly ( P <0.05); uterine coefficient, the levels of VEGF and NO in pregnant uterus, mRNA expressions of VEGFR2, PI3K, AKT and endothelial nitric oxide synthase(eNOS), protein expressions of VEGFR2, PI3K and eNOS as well as phosphorylation level of AKT in the pregnant uterus were significantly reduced ( P <0.05). Compared with model group, the endometrial tissue damage and congestion in the Qingre antai decoction group were significantly improved, and the levels of the aforementioned quantitative indicators were significantly reversed ( P <0.05). CONCLUSIONS Qingre antai decoction can improve the pregnancy outcomes in rats with threatened abortion of blood heat syndrome, the mechanism of which may be associated with inhibiting JAK2/STAT3 pathway and activating PI3K/AKT pathway.
4.Cognitive and motor abilities in post-stroke rehabilitation patients and factors related to falls
Wei PU ; Xuezhi YANG ; Cuicui LIU ; Xiao YANG ; Xiaosong QI ; Yutian ZHANG ; Liya ZHANG
Journal of Public Health and Preventive Medicine 2026;37(4):185-188
Objective To analyze the relationship between cognitive function, motor ability and the risk of falls in patients during the rehabilitation period after stroke. Methods A total of 330 patients with stroke who received rehabilitation treatment in the hospital from February 2022 to February 2025 were classified into fall group (n=105) and non-fall group (n=225) based on the occurrence of falls during rehabilitation period. The clinical data of patients were collected, and the motor function of patients was evaluated by Fugl-Meyer scale, and the cognitive function of patients was assessed by mini-mental state examination (MMSE). Univariate and logistic multivariate regression analyses were applied to analyze the factors affecting the occurrence of falls. Spearman correlation analysis was performed to analyze the relationship between motor ability, cognitive function and risk of falls. Results The proportions of osteoporosis, malnutrition, sleep disorder and history of falls in the fall group were higher while the education level, Fugl-Meyer score and MMSE score were lower compared to the non-fall group (P<0.05). After logistic multivariate analysis, it was found that osteoporosis, malnutrition, sleep disorder, history of falls, low education level, low Fugl-Meyer score and low MMSE score were risk factors for falls in patients during post-stroke rehabilitation period (P<0.05). Correlation analysis indicated that the motor ability and cognitive function in patients during post-stroke rehabilitation period were negatively associated with the occurrence of falls (r=-0.579, -0.438, P<0.001). Conclusion The cognitive function, motor ability of patients in the post-stroke rehabilitation period are closely related to the risk of falls. Clinically, the risk of falls in patients during post-stroke rehabilitation period can be reduced by improving the motor ability and cognitive function.
5.Mechanism of Modified Shengjiangsan in Improving Diabetic Kidney Disease by Activating Mitochondrial Autophagy Based on PINK1/Parkin Signaling Pathway
Jiaxin LI ; Liya ZHOU ; Yishuo ZHANG ; Ziqiang CHEN ; Yijun HOU ; Jian SUN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):121-128
ObjectiveTo investigate the mechanism by which modified Shengjiangsan (MSJS) improves diabetic kidney disease (DKD) by activating mitochondrial autophagy. MethodsSixty SPF-grade male Sprague-Dawley rats aged 7-8 weeks were selected. A DKD model was established using a high-sugar, high-fat diet combined with intraperitoneal injection of streptozotocin (STZ). After successful modeling, the rats were randomly divided into six groups: a normal control group, a model group, low-, medium-, and high-dose MSJS groups (7.7, 15.4, 30.8 g·kg-1, respectively), and an irbesartan group (0.384 g·kg-1). Each group received either normal saline or the corresponding drug by gavage once daily for 28 consecutive days. Blood glucose, body weight, and kidney weight were recorded. Serum creatinine (SCr) and blood urea nitrogen (BUN) levels were detected using an automatic blood analyzer. Enzyme-linked immunosorbent assay (ELISA) was used to determine urinary microalbumin (mALB), and serum levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), and interleukin-6 (IL-6). Histopathological changes in renal tissues were observed using hematoxylin-eosin (HE) staining, periodic acid-Schiff (PAS) staining, and transmission electron microscopy (TEM). The expression levels of mitochondrial autophagy-related proteins in renal tissues were analyzed by Western blot. Immunofluorescence co-localization was employed to detect the co-expression of microtubule-associated protein 1 light chain 3 beta (LC3B) and cytochrome c oxidase subunit Ⅳ (COX Ⅳ). ResultsCompared with the normal control group, the model group exhibited significant increases in renal index, blood glucose, and 24-hour urinary microalbumin (24 h mALB) (P<0.05, P<0.01). The levels of serum SCr and BUN were significantly elevated (P<0.01), and the serum levels of TNF-α, IL-1β, and IL-6 were markedly upregulated (P<0.01). Histopathological examination revealed glomerular hypertrophy, mesangial expansion and increased deposition, podocyte foot process flattening and fusion, a decreased number of autophagosomes accompanied by mitochondrial swelling, vacuolar degeneration of renal tubular epithelial cells, and inflammatory cell infiltration in the renal interstitium. The expression levels of autophagy-related proteins LC3B, PTEN-induced putative kinase 1 (PINK1), and E3 ubiquitin-protein ligase (Parkin) were significantly decreased (P<0.05, P<0.01), while expression of the selective autophagy adaptor protein p62 was significantly increased (P<0.01). Immunofluorescence signal intensity and LC3B-COX Ⅳ co-expression were both diminished. Compared with the model group, the MSJS treatment groups and the irbesartan group showed significant reductions in renal index, blood glucose, and 24 h mALB (P<0.05, P<0.01). The serum SCr and BUN levels decreased significantly (P<0.05) and TNF-α, IL-1β, and IL-6 levels were significantly downregulated (P<0.05, P<0.01). Histopathological damage was alleviated, including reduced glomerular hypertrophy, decreased mesangial deposition, and attenuated podocyte foot process fusion. The number of autophagosomes increased, and mitochondrial swelling was improved. The expression levels of LC3B, PINK1, and Parkin in renal tissues were significantly upregulated, whereas p62 expression was significantly downregulated (P<0.05, P<0.01) in MSJS groups. Immunofluorescence signal intensity was enhanced, and LC3B-COX Ⅳ co-expression was increased. ConclusionMSJS alleviates the inflammatory response in DKD rats and exerts renal protective effects by regulating the PINK1/Parkin signaling pathway and activating mitochondrial autophagy.
6.Mechanism of Modified Shengjiangsan in Improving Diabetic Kidney Disease by Activating Mitochondrial Autophagy Based on PINK1/Parkin Signaling Pathway
Jiaxin LI ; Liya ZHOU ; Yishuo ZHANG ; Ziqiang CHEN ; Yijun HOU ; Jian SUN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):121-128
ObjectiveTo investigate the mechanism by which modified Shengjiangsan (MSJS) improves diabetic kidney disease (DKD) by activating mitochondrial autophagy. MethodsSixty SPF-grade male Sprague-Dawley rats aged 7-8 weeks were selected. A DKD model was established using a high-sugar, high-fat diet combined with intraperitoneal injection of streptozotocin (STZ). After successful modeling, the rats were randomly divided into six groups: a normal control group, a model group, low-, medium-, and high-dose MSJS groups (7.7, 15.4, 30.8 g·kg-1, respectively), and an irbesartan group (0.384 g·kg-1). Each group received either normal saline or the corresponding drug by gavage once daily for 28 consecutive days. Blood glucose, body weight, and kidney weight were recorded. Serum creatinine (SCr) and blood urea nitrogen (BUN) levels were detected using an automatic blood analyzer. Enzyme-linked immunosorbent assay (ELISA) was used to determine urinary microalbumin (mALB), and serum levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), and interleukin-6 (IL-6). Histopathological changes in renal tissues were observed using hematoxylin-eosin (HE) staining, periodic acid-Schiff (PAS) staining, and transmission electron microscopy (TEM). The expression levels of mitochondrial autophagy-related proteins in renal tissues were analyzed by Western blot. Immunofluorescence co-localization was employed to detect the co-expression of microtubule-associated protein 1 light chain 3 beta (LC3B) and cytochrome c oxidase subunit Ⅳ (COX Ⅳ). ResultsCompared with the normal control group, the model group exhibited significant increases in renal index, blood glucose, and 24-hour urinary microalbumin (24 h mALB) (P<0.05, P<0.01). The levels of serum SCr and BUN were significantly elevated (P<0.01), and the serum levels of TNF-α, IL-1β, and IL-6 were markedly upregulated (P<0.01). Histopathological examination revealed glomerular hypertrophy, mesangial expansion and increased deposition, podocyte foot process flattening and fusion, a decreased number of autophagosomes accompanied by mitochondrial swelling, vacuolar degeneration of renal tubular epithelial cells, and inflammatory cell infiltration in the renal interstitium. The expression levels of autophagy-related proteins LC3B, PTEN-induced putative kinase 1 (PINK1), and E3 ubiquitin-protein ligase (Parkin) were significantly decreased (P<0.05, P<0.01), while expression of the selective autophagy adaptor protein p62 was significantly increased (P<0.01). Immunofluorescence signal intensity and LC3B-COX Ⅳ co-expression were both diminished. Compared with the model group, the MSJS treatment groups and the irbesartan group showed significant reductions in renal index, blood glucose, and 24 h mALB (P<0.05, P<0.01). The serum SCr and BUN levels decreased significantly (P<0.05) and TNF-α, IL-1β, and IL-6 levels were significantly downregulated (P<0.05, P<0.01). Histopathological damage was alleviated, including reduced glomerular hypertrophy, decreased mesangial deposition, and attenuated podocyte foot process fusion. The number of autophagosomes increased, and mitochondrial swelling was improved. The expression levels of LC3B, PINK1, and Parkin in renal tissues were significantly upregulated, whereas p62 expression was significantly downregulated (P<0.05, P<0.01) in MSJS groups. Immunofluorescence signal intensity was enhanced, and LC3B-COX Ⅳ co-expression was increased. ConclusionMSJS alleviates the inflammatory response in DKD rats and exerts renal protective effects by regulating the PINK1/Parkin signaling pathway and activating mitochondrial autophagy.
7.Genome-wide DNA methylation and mRNA transcription analysis revealed aberrant gene regulation pathways in patients with dermatomyositis and polymyositis.
Hui LUO ; Honglin ZHU ; Ding BAO ; Yizhi XIAO ; Bin ZHOU ; Gong XIAO ; Lihua ZHANG ; Siming GAO ; Liya LI ; Yangtengyu LIU ; Di LIU ; Junjiao WU ; Qiming MENG ; Meng MENG ; Tao CHEN ; Xiaoxia ZUO ; Quanzhen LI ; Huali ZHANG
Chinese Medical Journal 2025;138(1):120-122
8.Vonoprazan-based quadruple therapy is non-inferior to esomeprazole-based quadruple therapy for Helicobacter pylori eradication: A multicenter, double-blind, randomized, phase 3 study.
Zhiqiang SONG ; Qin DU ; Guoxin ZHANG ; Zhenyu ZHANG ; Fei LIU ; Nonghua LU ; Liqun GU ; Shingo KURODA ; Liya ZHOU
Chinese Medical Journal 2025;138(22):2938-2946
BACKGROUND:
Owing to the high prevalence of antibiotic resistance in Helicobacter pylori ( H. pylori ) in China, bismuth-containing quadruple therapies have been recommended for H. pylori eradication. This study compared the efficacy and safety of quadruple regimens containing vonoprazan vs . esomeprazole for H. pylori eradication in a patient population in China.
METHODS:
This was a phase 3, multicenter, randomized, double-blind study. Patients with confirmed H. pylori infection were randomized 1:1 to receive quadruple therapy for 14 days: amoxicillin 1000 mg and clarithromycin 500 mg after meals, bismuth potassium citrate 600 mg before meals, plus either vonoprazan 20 mg or esomeprazole 20 mg before meals, all twice daily. The primary outcome was the eradication rate of H. pylori , evaluated using a 13 C urea breath test at 4 weeks after treatment. The non-inferiority margin was at 10%.
RESULTS:
The study included 510 patients, 506 of whom completed the follow-up assessment. The primary analysis revealed eradication rates of 86.8% (210/242) and 86.7% (208/240) for vonoprazan and esomeprazole therapy, respectively (treatment difference: 0.1%; 95% confidence interval [CI]: -5.95, 6.17; non-inferiority P = 0.0009). Per-protocol analysis showed eradication rates of 87.4% for vonoprazan and 86.3% for esomeprazole (treatment difference: 1.2%; 95% CI: -5.03, 7.36; non-inferiority P = 0.0004). Vonoprazan and esomeprazole were well tolerated, with similar safety profiles.
CONCLUSION:
Vonoprazan was found to be well-tolerated and non-inferior to esomeprazole for eradicating H. pylori in patients from China.
TRIAL REGISTRATION
ClinicalTrials.gov , NCT04198363.
Humans
;
Esomeprazole/therapeutic use*
;
Double-Blind Method
;
Helicobacter Infections/drug therapy*
;
Male
;
Female
;
Middle Aged
;
Helicobacter pylori/pathogenicity*
;
Pyrroles/therapeutic use*
;
Sulfonamides/therapeutic use*
;
Adult
;
Clarithromycin/therapeutic use*
;
Amoxicillin/therapeutic use*
;
Aged
;
Anti-Bacterial Agents/therapeutic use*
;
Pyrrolidines/therapeutic use*
;
Drug Therapy, Combination
;
Proton Pump Inhibitors/therapeutic use*
9.Research on the construction of FFT-CNN-based MDLM system of medical equipment
Su ZHANG ; Min ZHANG ; Yaxiang SHI ; Liya HUANG
China Medical Equipment 2025;22(4):117-122
Objective:To construct a multi-dimensional life-cycle management(MDLM)of medical equipment based on fast Fourier transform-convolutional neural network(FFT-CNN),so as to provide data support for the life-cycle management of medical equipment and its multi-dimensional derivation.Methods:The MDLM system of medical equipment was constructed by setting display layer of comprehensive information,data extension layer of multi business,data layer of life cycle of equipment,data acquisition layer.The FFT-CNN algorithm was adopted to mapping characteristic data of operating medical equipment as business data of hospital,and then,they were derived to operational management indicators of hospital from 6 dimensions included carbon trajectory,operation and maintenance trajectory,benefit trajectory,safety trajectory,performance trajectory and assessment trajectory.The data prober of artificial internet of things(AIoT),and pattern recognition and indicator derivation of FFT-CNN were adopted to conduct comprehensively digital transformation management for life-cycle of medical equipment.The management data that MDLM system were applied in the medical equipment of Baoying People's Hospital from August 2023 to April 2024 were selected to compare the efficiency of maintaining magnetic resonance(MR)equipment of hospital before and after the system was applied.Results:The MDLM system of medical equipment realized the life-cycle management for medical equipment in eight stages included demand,procurement,installation,archiving,operation,monitoring,maintenance and scrapping,and realized the use of"the extended data of energy consumption management,operation and maintenance management,efficiency management,safety management,performance management and assessment management that derived from the indicators of 6 dimensions"in conducting routine management for medical equipment of hospital.The average repair time of the failure of MR equipment of hospital has been decreased from 6.8 hours before the system was applied to 2.3 hours after it was applied,which significantly improved the efficiency of operation and maintenance,and the availability efficiency of the equipment.Conclusion:The FFT-CNN-based MDLM system of medical equipment has established special database of life-cycle management for medical equipment,which can provide multi-dimensionally objective,complete and relevant data support for lean management for medical equipment of hospital,and can improve the efficiency of operating and maintaining equipment.
10.Clinical characteristics of germline mutations in patients with myelodysplastic neoplasms
Xiaozhen LIU ; Yudi ZHANG ; Lingxu JIANG ; Chen MEI ; Li YE ; Liya MA ; Xinping ZHOU ; Hongyan TONG
Chinese Journal of Hematology 2025;46(6):537-543
Objective:To investigate the clinical characteristics and prognostic significance of germline mutations in patients with myelodysplastic neoplasms (MDS) .Methods:Clinical data from 407 patients with MDS [male, 252; female, 155; median age, 64 (range, 19-85) years] diagnosed at the First Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. The clinical features and prognostic effects of germline mutations were evaluated.Results:The prevalence of germline mutations in patients with MDS was 5.9% (24/407), peaking at 20.0% in the group aged 21-30 years. The spectrum of germline mutations comprised DDX41 (9 cases, 2.2%), TP53 (3 cases, 0.7%), and single cases of RUNX1, TET2, MPL, CBL, ATRX, CEBPA, ETV6, IDH1, KDM5C, SBDS, GNAS, and CTC1. Patients with germline mutations exhibited significantly lower peripheral WBC counts than those without (1.87×10 9/L vs 2.50×10 9/L, P=0.018), but showed comparable median overall survival (21.3 months vs 21.1 months, P=0.97). Patients with DDX41 germline mutations, compared with those with other germline mutations, had a significantly older median age (65 vs 54 years, P=0.010), lower WBC counts (1.51×10 9/L vs 2.31×10 9/L, P=0.040), increased mean corpuscular volume (111.80 fl vs 97.25 fl, P=0.003), and a higher prevalence of normal karyotypes (100.0% vs 53.3%, P=0.022). The most frequently co-occurring somatic mutations in DDX41 germline mutation carriers were ASXL1, TET2, and RUNX1. Conclusion:In this study, the detection rate of germline mutations in MDS patients was 5.9% (24/407), peaking at 20% in the group aged 21-30 years. DDX41 and TP53 were the most prevalent germline mutations. DDX41 mutation carriers displayed distinct clinical characteristics; however, germline mutations overall showed no significant prognostic effect.


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