1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Mechanism of mesenchymal stromal cells reversing fibrosis of the uterine endometrium after injury
Shiqi LI ; Yue DANG ; Qingqing ZHOU ; Xin SHANG ; Jiali LIU
Journal of China Pharmaceutical University 2026;57(3):360-368
To investigate the effect of mesenchymal stromal cells (MSCs) on the fibrosis progression and endometrial regeneration in mouse models of endometrial injury, a mouse endometrial injury model was established by physical scraping combined with lipopolysaccharide (LPS) chemical induction, and the endometrium morphology and collagen deposition were evaluated by HE and Masson staining after unilateral administration of MSCs. RT-qPCR and immunofluorescence were used to detect the expression of epithelial markers Epcam and collagen I (Col1). Primary endometrial epithelial cells were isolated to assess p21 expression. Fibrosis-related genes and signaling pathways were validated using transcriptome sequencing and RT-qPCR. The experimental results showed that MSCs increased endometrial thickness and number of glands (P<0.05), up-regulated the expression of Epcam (P<0.01), while significantly reducing uterine collagen fiber deposition (P<0.05) and the expression of p21 in primary epithelial cells (P<0.0001). Transcriptomic analysis revealed that MSCs attenuated collagen deposition by modulating genes involved in the TGF-β signaling pathway. This study elucidates that MSCs facilitate uterine repair by reversing endometrial fibrosis and promoting epithelial regeneration, and their role is related to the regulation of the TGF-β/SMAD pathway and suppression of aberrant collagen accumulation.
3.Study on Quantitative Evaluation Method of Balance Ability in Cancer Patients Based on Gait Features.
Junjie LIU ; Xu ZHOU ; Chao YU ; Qingqing CAO ; Zhiming YAO ; Wanqiu ZHANG ; Ling ZHANG ; Wanqing YAO ; Ning LIN
Chinese Journal of Medical Instrumentation 2025;49(4):369-374
The importance of gait assessment in the rehabilitation of cancer patients is gradually being recognized. However, quantitative analysis of balance ability in cancer patients is still limited. A total of 102 cancer patients meeting the inclusion criteria were recruited from Hefei Cancer Hospital, Chinese Academy of Sciences. Their balance ability was evaluated using the Berg Balance Scale (BBS). Gait data were collected by an electronic walkway and an IMU sensor system, including spatial-temporal and kinematic gait features such as step length, cadence, support time, and range of motion. Recursive feature elimination was used for feature selection. Ridge, Elastic Net, SVR, RF, and AdaBoost models were used to predict balance ability scores. Five-fold cross-validation was used to evaluate the performance of these models. Results show that the SVR model achieves the best performance with fifteen features (RMSE=3.22, R 2=0.91), followed by Ridge (RMSE=3.63, R 2=0.89). A method for evaluating balance ability based on gait features is proposed, providing a quantitative tool for personalized rehabilitation interventions in cancer patients.
Humans
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Postural Balance
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Neoplasms/rehabilitation*
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Gait
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Gait Analysis
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Biomechanical Phenomena
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Female
4.The application of surgical robots in head and neck tumors.
Xiaoming HUANG ; Qingqing HE ; Dan WANG ; Jiqi YAN ; Yu WANG ; Xuekui LIU ; Chuanming ZHENG ; Yan XU ; Yanxia BAI ; Chao LI ; Ronghao SUN ; Xudong WANG ; Mingliang XIANG ; Yan WANG ; Xiang LU ; Lei TAO ; Ming SONG ; Qinlong LIANG ; Xiaomeng ZHANG ; Yuan HU ; Renhui CHEN ; Zhaohui LIU ; Faya LIANG ; Ping HAN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(11):1001-1008
5.Interleukin-33 Knockout Promotes High Mobility Group Box 1 Release from Astrocytes by Acetylation Mediated by P300/CBP-Associated Factor in Experimental Autoimmune Encephalomyelitis.
Yifan XIAO ; Liyan HAO ; Xinyi CAO ; Yibo ZHANG ; Qingqing XU ; Luyao QIN ; Yixuan ZHANG ; Yangxingzi WU ; Hongyan ZHOU ; Mengjuan WU ; Mingshan PI ; Qi XIONG ; Youhua YANG ; Yuran GUI ; Wei LIU ; Fang ZHENG ; Xiji SHU ; Yiyuan XIA
Neuroscience Bulletin 2025;41(7):1181-1197
High mobility group box 1 (HMGB1), when released extracellularly, plays a pivotal role in the development of spinal cord synapses and exacerbates autoimmune diseases within the central nervous system. In experimental autoimmune encephalomyelitis (EAE), a condition that models multiple sclerosis, the levels of extracellular HMGB1 and interleukin-33 (IL-33) have been found to be inversely correlated. However, the mechanism by which IL-33 deficiency enhances HMGB1 release during EAE remains elusive. Our study elucidates a potential signaling pathway whereby the absence of IL-33 leads to increased binding of P300/CBP-associated factor with HMGB1 in the nuclei of astrocytes, upregulating HMGB1 acetylation and promoting its release from astrocyte nuclei in the spinal cord of EAE mice. Conversely, the addition of IL-33 counteracts the TNF-α-induced increase in HMGB1 and acetylated HMGB1 levels in primary astrocytes. These findings underscore the potential of IL-33-associated signaling pathways as a therapeutic target for EAE treatment.
Animals
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Encephalomyelitis, Autoimmune, Experimental/metabolism*
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Astrocytes/metabolism*
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Interleukin-33/metabolism*
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HMGB1 Protein/metabolism*
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Acetylation
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Mice, Knockout
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Mice, Inbred C57BL
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p300-CBP Transcription Factors/metabolism*
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Mice
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Spinal Cord/metabolism*
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Cells, Cultured
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Female
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Signal Transduction
6.Comprehensive analysis of the antibacterial activity of 5,8-dihydroxy-1,4-naphthoquinone derivatives against methicillin-resistant Staphylococcus aureus.
Qingqing CHEN ; Yuhang DING ; Zhongyi LI ; Xingyu CHEN ; Aliya FAZAL ; Yahan ZHANG ; Yudi MA ; Changyi WANG ; Liu YANG ; Tongming YIN ; Guihua LU ; Hongyan LIN ; Zhongling WEN ; Jinliang QI ; Hongwei HAN ; Yonghua YANG
Chinese Journal of Natural Medicines (English Ed.) 2025;23(5):604-613
Given the increasing concern regarding antibacterial resistance, the antimicrobial properties of naphthoquinones have recently attracted significant attention. While 1,4-naphthoquinone and its derivatives have been extensively studied, the antibacterial properties of 5,8-dihydroxy-1,4-naphthoquinone derivatives remain relatively unexplored. This study presents a comprehensive in vitro and in vivo analysis of the antibacterial activity of 35 naturally sourced and chemically synthesized derivatives of 5,8-dihydroxy-1,4-naphthoquinone. Kirby-Bauer antibiotic testing identified three compounds with activity against methicillin-resistant Staphylococcus aureus (MRSA), with one compound (PNP-02) demonstrating activity comparable to vancomycin in minimum inhibitory concentration, minimum bactericidal concentration (MBC), and time-kill assays. Microscopic and biochemical analyses revealed that PNP-02 adversely affects the cell wall and cell membrane of MRSA. Mechanistic investigations, including proteomic sequencing analyses, Western blotting, and RT-qPCR assays, indicated that PNP-02 compromises cell membrane integrity by inhibiting arginine biosynthesis and pyrimidine metabolism pathways, thereby increasing membrane permeability and inducing bacterial death. In an in vivo mouse model of skin wound healing, PNP-02 exhibited antibacterial efficacy similar to vancomycin. The compound demonstrated low toxicity to cultured human cells and in hemolysis assays and remained stable during serum incubation. These findings suggest that PNP-02 possesses promising bioactivity against MRSA and represents a potential novel antibacterial agent.
Methicillin-Resistant Staphylococcus aureus/genetics*
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Anti-Bacterial Agents/chemistry*
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Naphthoquinones/administration & dosage*
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Animals
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Microbial Sensitivity Tests
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Mice
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Humans
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Staphylococcal Infections/microbiology*
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Molecular Structure
7.Research progress in energy metabolism design of cell factories.
Yiqun YANG ; Qingqing LIU ; Shuo TIAN ; Tao YU
Chinese Journal of Biotechnology 2025;41(3):1098-1111
Energy metabolism regulation plays a pivotal role in metabolic engineering. It mainly achieves the balance of material and energy metabolism or maximizes the utilization of materials and energy by regulating the supply intensity and mode of ATP and reducing electron carriers in cells. On the one hand, the production efficiency can be increased by changing the distribution of material metabolic flow. On the other hand, the thermodynamic parameters of enzyme-catalyzed reactions can be altered to affect the reaction balance, and thus the production costs are reduced. Therefore, energy metabolism regulation is expected to become a favorable tool for the modification of microbial cell factories, thereby increasing the production of target metabolites and reducing production costs. This article introduces the commonly used energy metabolism regulation methods and their effects on cell factories, aiming to provide a reference for the efficient construction of microbial cell factories.
Energy Metabolism/physiology*
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Metabolic Engineering/methods*
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Adenosine Triphosphate/metabolism*
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Industrial Microbiology/methods*
8.Study on the relationship between inflammation index and the severity of cerebral small vessel disease
Qingqing WANG ; Shaoying WANG ; Hongjing WANG ; Lidi WANG ; Jingbing LI ; Cuiqing LIU
International Journal of Laboratory Medicine 2025;46(3):271-275
Objective To investigate the relationship between inflammation index and the severity of cere-bral small vessel disease.Methods A total of 168 patients with cerebral small vessel disease who were admit-ted to the Eighth People's Hospital of Hebei from August 2019 to October 2022 were selected as the study ob-jects.The study subjects were divided into cerebral small vessel disease with light burden(light burden group)and cerebral small vessel disease with medium-heavy burden(medium-heavy burden group)according to the total imaging burden score of cerebral small vessel disease.The basic data and systemic immune-inflam-matory index(SII),neutrophil to lymphocyte ratio(NLR),platelet to lymphocyte ratio(PLR),and monocyte to lymphocyte ratio(MLR)were compared between the two groups.Spearman correlation analysis was used to evaluate the correlation between SII,NLR,PLR and MLR and the total imaging burden score of cerebral small vessel disease,and the influence of SII,NLR,PLR and MLR on the medium-heavy burden of cerebral small vessel disease was further analyzed by multivariate Logistic regression.Receiver operating characteristic(ROC)curves were plotted to analyze the predictive value of SII,NLR,PLR and MLR in the severity of cere-bral small vessel disease.Results The age,smoking history,hypertension history,neutrophil,platelet,SII,NLR,PLR and MLR in medium-heavy burden group were significantly higher than those in light burden group,and lymphocyte was significantly lower than that in light burden group,with statistical significance(P<0.05).Spearman correlation analysis showed that SII(r=0.377),NLR(r=0.516),PLR(r=0.486)and MLR(r=0.391)were positively correlated with the total imaging burden score of cerebral small vessel disease(P<0.001).Multivariate Logistic regression analysis showed that age,neutrophil,platelet,SII,NLR,PLR and MLR were independent risk factors for medium-heavy burden in cerebral small vessel disease,and lymphocyte was independent protective factor for medium-heavy burden in cerebral small vessel disease(P<0.05).ROC curve analysis results showed that the area under the curve of SII,NLR,PLR and MLR separately detected were 0.720(95%CI:0.646-0.787),0.802(95%CI:0.733-0.859),0.784(95%CI:0.714-0.843)and 0.728(95%CI:0.654-0.794),respectively.The area under the curve of the combined detection of the four indexes was higher than that of the single detection of each index(P<0.05).Conclusion The combined detection of SII,NLR,PLR and MLR has high predictive value for the severity of cerebral small vessel dis-ease,and is worthy of clinical promotion.
9.Clinical application value of three-dimensional visualization technology in the precise diagnosis and treatment of locally advanced differentiated thyroid cancer
Hai YAN ; Jian ZHU ; Dan WANG ; Changrui LIU ; Yixin LIU ; Dongliang ZHAI ; Yuanyuan LIU ; Yuan LI ; Qingqing HE
International Journal of Surgery 2025;52(1):19-27
Objective:To investigate the feasibility and effectiveness of three-dimensional visualization technology in the precise diagnosis and treatment of locally advanced differentiated thyroid cancer(DTC).Methods:A retrospective analysis was conducted on the clinical data of 196 patients with locally advanced DTC treated at the 960th Hospital of the PLA from December 2021 to August 2023. The cohort included 71 male and 125 female patients, with a mean age of 43.7 years (rangd from 18 to 77 years). All patients underwent neck-enhanced CT scans and were divided into two groups: the study group( n=102), which underwent preoperative three-dimensional visualization of CT data, and the control group( n=94), which did not. Baseline data for both groups were matched using SPSS27.0 with 1∶1 propensity score matching (PSM) and the caliper value was 0.02. A total of 49 patients were included in each group, including 35 first-time surgeries and 14 reoperation. Among the 70 first-time surgeries, 29 patients underwent robotic surgery and 41 underwent open surgery. Among the 28 reoperations, 4 underwent robotic surgery and 24 underwent open surgery. In the study group, three-dimensional visual models were used to comprehensively evaluate the tumor and metastatic lesion size, spatial location, and adjacent relationship with surrounding organs, surgical treatments were guided by these models, whereas the control group relied on two-dimensional imaging for guidance. The clinical data were statistically analyzed using SPSS27.0. Results:All operations were successfully completed. There were no statistical differences in baseline data between the two groups( P>0.05). Among first-time surgeries, the study group showed shorter operation times [175(145, 200) min vs 205(182, 249) min, P<0.001], a lower incidence of postoperative chyle leak (0 vs 8.57%, P=0.027), a higher rate of robotic surgery (48.57% vs 34.28%, P=0.225), a greater number of harvested lymph nodes [46(40, 62) vs 37(28, 56), P=0.032], a greater number of cervical lymph node metastasis[15(7, 22) vs 5(1, 14), P=0.004] and a larger diameter of metastasis lymph nodes[12(10, 16) mm vs 4(1, 10) mm, P<0.001]. There were no significant differences in intraoperative blood loss, postoperative drainage days and incidence of hypoparathyroidism( P>0.05). During the reoperation, the study group had shorter operation times[103.5(95.0, 122.5) min vs 146.50(133.25, 172.25) min, P<0.001], less intraoperative blood loss[12.50(8.75, 22.50) mL vs 30.00(17.50, 35.00) mL, P=0.021], fewer postoperative drainage days[5.00(4.00, 6.00) d vs 6.00(5.00, 7.25) d, P=0.016] and a lower incidence of hypoparathyroidism(7.14% vs 42.86%, P=0.038).The robotic surgery rate was higher in the study group (21.42% vs 7.14%, P=0.596). There were no significant differences in lymph node dissection numbers, metastatic lymph node counts, or chyle leak incidences between the two groups ( P>0.05). No acute bleeding or incision infection occurred in any patient postoperatively. Conclusion:Three-dimensional visualization technology is an effective preoperative assessment method for evaluating the resectability of tumors and metastases lesions in locally advanced DTC. It enhances the accuracy and safety of surgery for locally advanced DTC.
10.Exploration of the application of vehicle-mounted 5G remote mobile robotic surgical system in thyroid surgery
Meng WANG ; Wen TIAN ; Qingqing HE ; Guolou LI ; Jian ZHU ; Xiaodong MA ; Wei WEI ; Qiongqiong TAN ; Jinzhi HU ; Yingying WANG ; Peng ZHOU ; Gang WANG ; Yixin LIU ; Hejun WANG ; Yu LIU ; Lihu LIU
International Journal of Surgery 2025;52(1):28-32
Objective:To investigate the feasibility and safety of implementing a domestic vehicle-mounted remote mobile robotic surgical system in thyroid surgery applications, integrated with 5G communication technology.Methods:Using the main system located on the vehicle-mounted mobile robot operating platform of the 960th Hospital of PLA Joint Logistics Support Force and the slave system of Weifang Traditional Chinese Hospital, the remote radical thyroidectomy 5G communication technology, and analyze the clinical and information transmission data of two female patients who underwent remote mobile robot thyroid cancer surgery on October 21, 2024 at Weifang Traditional Chinese Medicine Hospital.Results:The remote radical thyroidectomy was conducted by the robosurgeons utilizing a vehicle-mounted mobile robotic surgical system, and the procedure was successfully completed without necessitating intermediate open surgery. The operation durations for patient 1 and patient 2 were 135 minutes and 108 minutes, respectively, with 7 and 13 lymph nodes dissected, respectively. The average delay in surgical data transmission was recorded at 61.9 milliseconds, with no instances of signal interruption or frame loss. The procedure proceeded smoothly, without any jamming, and the audio and video transmissions were consistently clear. Follow up for 21 days after surgery showed no complications such as hoarseness, skin damage, or lymphatic fistula.Conclusion:The implementation of a vehicle-mounted remote mobile robotic surgery system for thyroid surgery has demonstrated safety and feasibility. Furthermore, the utilization of the 5G network offers rapid data transmission and minimal latency, closely approximating the therapeutic efficacy of traditional robotic thyroidectomy.

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