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.Effect of Qianyang Yuyin Granules on Elderly Hypertensive Patients Based on "Energy-inflammation-aging" Network
Yuan FANG ; Li LI ; Na XIONG ; Meng LI ; Yongcheng NI ; Yawei ZHENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(22):165-173
ObjectiveTo multidimensionally analyze the clinical effects of Qianyang Yuyin granules on elderly hypertensive patients through an "energy-inflammation-aging" network. MethodsRelevant datasets were retrieved from the GEO database. Gene set enrichment analysis (GSEA) was performed on the gene expression profiles of peripheral blood cells from patients with essential hypertension in dataset GSE24752. The GSEA referenced "GO gene sets" and "KEGG gene sets" to identify significantly enriched gene sets. A clinical trial was conducted using a randomized controlled study design. A total of 40 patients meeting the inclusion criteria were enrolled. The control group received standard antihypertensive treatment with angiotensin receptor blockers (ARBs) or combined calcium channel blockers (CCBs). In contrast,the treatment group received Qianyang Yuyin Granules in addition to the standard treatment for 12 weeks. Blood pressure levels and clinical efficacy were observed,and changes in energy metabolism indicators,DNA damage markers,and senescence-associated secretory phenotype (SASP) in blood were measured using ELISA before and after treatment. ResultsGSEA results indicated significant energy metabolism dysregulation in hypertensive patients. Clinical findings showed that both groups achieved blood pressure control without significant intergroup differences. In terms of clinical efficacy,the treatment group had a significantly higher effective rate compared to the control group (95% vs 65%,P0.05). After treatment,the treatment group showed a significant increase in NAD+ levels (P0.01),with higher levels compared to the control group (P0.05). The treatment group also exhibited a greater reduction in DNA damage marker 8-OHdG (P0.01) and cell adhesion factors ICAM-1 and VCAM-1 (P0.01) compared to the control group. Pro-inflammatory cytokines IL-1β and IL-6 were significantly reduced in the treatment group (P0.01),with greater reductions compared to the control group (P0.05,P0.01). Anti-inflammatory cytokines IFN-α,IL-4,and IL-10 were significantly elevated in the treatment group (P0.01),with higher levels compared to the control group (P0.01). No significant adverse reactions were reported in either group. ConclusionThe "energy- inflammation- aging" network plays an important role in the pathological mechanism of hypertension patients. Qianyang Yuyin granules may delay the aging process by increasing patients' energy metabolism levels,reducing DNA oxidative damage,and maintaining the balance of inflammatory factors.
3.Review, revision, and prospect of list of substances with both edible and medicinal values in China.
Xin-Yuan SUN ; Ya-Ping ZHENG ; Kang-Meng SUN ; Chun-Nian HE ; Pei-Gen XIAO
China Journal of Chinese Materia Medica 2025;50(2):346-355
The thought of medicine and food homology and substances with both edible and medicinal values are an important part of China's excellent traditional culture and medicine treasure, playing an important role in human diet and health maintenance for thousands of years. Substances with both edible and medicinal values are a standardized name governed by existing regulations, and many substances with both edible and medicinal values in the list lack important information such as original plants and edible and medicinal parts. Some substances change as the relevant regulations change, which confuses the use and regulation. According to the definition and inclusion conditions of substances with both edible and medicinal values in the Regulation of Substances with Both Edible and Medicinal Values Catalogue, this paper comprehensively reviewed the first batch of 87 substances with both edible and medicinal values published in 2002 by collecting information and investigating the practical application. Some substances supplemented, deleted, and revised were analyzed and discussed, and a complete revised list was compiled, encompassing a total of 90 substances, which were when combined with the 19 substances of the last three batches(published in 2019, 2023, and 2024), amounted to a total of 109 substances. In addition, the substances not currently in the published list but have both edible and medicinal values according to the latest definition were summarized, which revealed at least 27 other substances. Therefore, there were at least 136 substances with both edible and medicinal values. Additionally, the potential substances that could be included in the list of substances with edible and medicinal values were prospected, providing a focus for future expansion of the list. This paper systematically reviewed and revised the list of substances with both edible and medicinal values to lay a foundation for the regulatory authorities to revise the catalog of these substances and provide basic information for promoting the new quality productive forces in the health field and boosting the orderly and rapid development of the big health industry.
China
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Humans
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Drugs, Chinese Herbal/standards*
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Plants, Medicinal/chemistry*
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Medicine, Chinese Traditional
4.Chemical consitituents and hypoglycemic activity of Qinhuai No. 1 Rehmannia glutinosa
Meng YANG ; Zhi-you HAO ; Xiao-lan WANG ; Chao-yuan XIAO ; Jun-yang ZHANG ; Shi-qi ZHOU ; Xiao-ke ZHENG ; Wei-sheng FENG
Acta Pharmaceutica Sinica 2025;60(1):205-210
Eight compounds were isolated and purified from the ethyl acetate part of 70% acetone extract of
5.Anti-hepatic fibrosis effect and mechanism of Albiziae Cortex-Tribuli Fructus based on Nrf2/NLRP3/caspase-1 pathway.
Meng-Yuan ZHENG ; Jing-Wen HUANG ; Si-Chen JIANG ; Ze-Yu XIE ; Yi-Xiao XU ; Li YAO
China Journal of Chinese Materia Medica 2025;50(15):4129-4140
This study aims to explore whether Albiziae Cortex-Tribuli Fructus can exert an anti-hepatic fibrosis effect by regulating the nuclear factor E2-related factor 2(Nrf2)/NOD-like receptor protein 3(NLRP3)/cysteine protease-1(caspase-1) pathway and analyze its potential mechanism. In the in vivo experiment, a mouse model of hepatic fibrosis was established by subcutaneous injection of carbon tetrachloride. The levels of alanine aminotransferase(ALT), aspartate aminotransferase(AST), collagen type Ⅳ(ColⅣ), laminin(LN), procollagen type Ⅲ(PCⅢ), and hyaluronic acid(HA) in the serum of mice were measured using a fully automated biochemical analyzer and ELISA. Hematoxylin and eosin(HE) and Masson staining were used to observe inflammation and collagen fiber deposition in the liver tissue. Western blot and RT-qPCR were employed to detect the protein and mRNA expression of collagen type Ⅰ(collagen Ⅰ), α-smooth muscle actin(α-SMA), Nrf2, NLRP3, gasdermin D(GSDMD), and caspase-1 in the hepatic tissue. In the in vitro experiment, human hepatic stellate cells(HSC-LX2) were pretreated with Nrf2 agonist or inhibitor, followed by the addition of blank serum, AngⅡ + blank serum, and AngⅡ + Albiziae Cortex-Tribuli Fructus-containing serum for intervention. Western blot was used to detect the protein expression of Nrf2, NLRP3, GSDMD, caspase-1, α-SMA, GSDMD-N, and apoptosis-associated speck-like protein(ASC) in cells. DCFH-DA fluorescence probe was used to detect the cellular ROS levels. The results from the in vivo experiment showed that, compared with the model group, Albiziae Cortex-Tribuli Fructus significantly reduced the serum levels of AST, ALT, ColⅣ, LN, PCⅢ, and HA, reduced the infiltration of inflammatory cells and collagen fiber deposition in the liver tissue, significantly upregulated the protein and mRNA expression of Nrf2 in the liver tissue, and significantly downregulated the protein and mRNA expression of collagen I, α-SMA, NLRP3, GSDMD, and caspase-1 in the liver tissue. The results from the in vitro experiment showed that Nrf2 activation decreased the protein expression of NLRP3, GSDMD, caspase-1, α-SMA, GSDMD-N, ASC, and ROS levels in HSC-LX2, while Nrf2 inhibition showed the opposite trend. Furthermore, Albiziae Cortex-Tribuli Fructus-containing serum directly decreased the expression of the above proteins and ROS levels. In conclusion, Albiziae Cortex-Tribuli Fructus can effectively improve hepatic fibrosis, and its mechanism of action may involve inhibiting pyroptosis through the regulation of the Nrf2/NLRP3/caspase-1 pathway.
Animals
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NF-E2-Related Factor 2/genetics*
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Liver Cirrhosis/genetics*
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Mice
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Drugs, Chinese Herbal/administration & dosage*
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Caspase 1/genetics*
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Male
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NLR Family, Pyrin Domain-Containing 3 Protein/genetics*
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Signal Transduction/drug effects*
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Humans
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Liver/metabolism*
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Mice, Inbred C57BL
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Plant Extracts
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Tribulus
6.Central nervous system infection:Expert consensus on imaging examination standards(2024 edition)
Chen QIAO ; Ting LIU ; Jianming CAI ; Qing LU ; Weijun SITU ; Meng ZHENG ; Zhenying XIA ; Yuan QU ; Ting LIANG ; Guangping ZHENG ; Hongkai ZHANG ; Shengyuan LAI ; Hongjun LI
Chinese Journal of Medical Imaging Technology 2025;41(6):857-860
Imaging examination is a crucial part in diagnosis and treatment of central nervous system infection(CNSI),involving complex imaging sequences and parameters.This consensus was jointly written by multiple CNSI imaging experts in China,aimed to standardize imaging examination of CNSI.
7.Glutamine signaling specifically activates c-Myc and Mcl-1 to facilitate cancer cell proliferation and survival.
Meng WANG ; Fu-Shen GUO ; Dai-Sen HOU ; Hui-Lu ZHANG ; Xiang-Tian CHEN ; Yan-Xin SHEN ; Zi-Fan GUO ; Zhi-Fang ZHENG ; Yu-Peng HU ; Pei-Zhun DU ; Chen-Ji WANG ; Yan LIN ; Yi-Yuan YUAN ; Shi-Min ZHAO ; Wei XU
Protein & Cell 2025;16(11):968-984
Glutamine provides carbon and nitrogen to support the proliferation of cancer cells. However, the precise reason why cancer cells are particularly dependent on glutamine remains unclear. In this study, we report that glutamine modulates the tumor suppressor F-box and WD repeat domain-containing 7 (FBW7) to promote cancer cell proliferation and survival. Specifically, lysine 604 (K604) in the sixth of the 7 substrate-recruiting WD repeats of FBW7 undergoes glutaminylation (Gln-K604) by glutaminyl tRNA synthetase. Gln-K604 inhibits SCFFBW7-mediated degradation of c-Myc and Mcl-1, enhances glutamine utilization, and stimulates nucleotide and DNA biosynthesis through the activation of c-Myc. Additionally, Gln-K604 promotes resistance to apoptosis by activating Mcl-1. In contrast, SIRT1 deglutaminylates Gln-K604, thereby reversing its effects. Cancer cells lacking Gln-K604 exhibit overexpression of c-Myc and Mcl-1 and display resistance to chemotherapy-induced apoptosis. Silencing both c-MYC and MCL-1 in these cells sensitizes them to chemotherapy. These findings indicate that the glutamine-mediated signal via Gln-K604 is a key driver of cancer progression and suggest potential strategies for targeted cancer therapies based on varying Gln-K604 status.
Glutamine/metabolism*
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Myeloid Cell Leukemia Sequence 1 Protein/genetics*
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Humans
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Proto-Oncogene Proteins c-myc/genetics*
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Cell Proliferation
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Signal Transduction
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Neoplasms/pathology*
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F-Box-WD Repeat-Containing Protein 7/genetics*
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Cell Survival
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Cell Line, Tumor
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Apoptosis
8.Construction and Optimization of Alzheimer's Disease Classification Model Based on Brain Mixed Function Network Topology Parameters and Machine Learning
Xiao-yu HAN ; Xiu-zhu JIA ; Yang LI ; Meng-ying LOU ; Yong-qi NIE ; Xin-ping GUO ; Lu YU ; Zhi-yuan LI ; Lian-zheng SU
Progress in Modern Biomedicine 2025;25(11):1770-1778
Objective:To explore the interrelationship between brain functional networks and features in functional magnetic resonance imaging(fMRI)of patients with Alzheimer's disease(AD),and to construct mixed-function networks(MFN),and apply them in machine learning classification models to improve the accuracy of AD classification.Methods:102 AD patients and 227 healthy subjects in the Alzheimer's Neuroimaging Initiative(ADNI)dataset were retrospectively analyzed.The partial correlation brain network of the blood oxygen level dependent(BOLD)signal was calculated and fused with low-frequency wave amplitude(ALFF),fractional low-frequency wave amplitude(fALFF)and local consistency(ReHo)features to construct MFN.Network topology parameters were extracted,and a variety of machine learning classification models were constructed based on MFN topological parameters,accuracy,precision,recall and area under the curve(AUC)were used to evaluate the predictive efficiency of the models.Results:By constructed MFN and calculated intra group to inter group ratio(IIGR),35 features could be obtained from ALFF,fALFF and ReHo feature topological parameter analysis,after rank sum test and FDR correction,there were statistical differences among 28 features(P<0.05).The classification results show that,all the five classifiers have high classification performance on the test data set.The accuracy,precision and recall rates of random forest(RF),adaptive lifting algorithm(AdaBoost),guided aggregation algorithm(Bagging)and support vector machine(SVM)were all 99.7%,and the AUC values were up to 100%,99.5%,99.1%and 99.5%,respectively.The accuracy(98.5%),precision(98.5%),recall(98.5%),and AUC(99.1%)of the multi-layer perceptron(MLP)were slightly lower than other models,but remained excellent.It was worth noting that RF has the highest AUC value of all models at 100.0%,while Bagging has the lowest AUC value(99.1%)in the integrated approach.The results of performance comparison show that,MFN classification model can significantly improve the recognition and classification of AD disease,and greatly improve the performance of various indicators of the classifier.The results showed that,MFN classification model was superior to intelligent classification based fusion,DBN-based multitask learning,PVT-TSVM,unsupervised learning and clustering,SVM and SVM of degree 3 polynomial kernel function in key indicators such as accuracy(99.13%),AUC(99.42%),recall rate(99.46%)and specificity(99.42%)with plasma proteins,machine learning algorithms.It was further proved that MFN classification model has good generalization ability and robustness in AD disease classification.Conclusion:The AD classification model constructed based on brain mixed function network topology parameters and machine learning can improve the accuracy of AD classification.
9.Application of interprofessional cooperative simulation in teaching emergency care for shock patients for ICU undergraduate nursing students
Bin HE ; Sixuan DU ; Yuju QIN ; Yunsheng YUAN ; Ling YI ; Zheng YANG ; Siya MENG ; Wenhong LI ; Yihua KUANG
Chinese Journal of Medical Education Research 2025;24(11):1567-1572
Objective:To explore the effectiveness of interprofessional cooperative simulation in teaching emergency care for shock patients among intensive care unit (ICU) undergraduate nursing students.Methods:An interprofessional cooperative simulation-based teaching faculty team was established for ICU undergraduate nursing students, and a shock case library was developed. Using convenience sampling, 32 ICU undergraduate nursing students in 2022 were selected as the control group and received conventional simulation-based teaching, with students rotating through roles as nurses, standardized patients, doctors, and family members. In the experimental group, 34 ICU undergraduate nursing students in 2023 and 24 ICU clinical medicine interns were recruited to act as doctors for interprofessional cooperative simulation-based teaching. Each group was divided into subgroups, with each subgroup consisting of 4-5 nursing students. One group completed simulation-based training per month for a total of 8 sessions, with each session lasting 3 hours. The teaching adopted the on-site "tidal ward" in situ simulation, and the scenarios included patient history collection and health assessment, shock emergency care, nursing evaluation, and health education. The differences between the two groups of nursing students were compared in terms of ICU exit theoretical assessment score, objective structured clinical examination skill assessment score, and satisfaction with simulation-based teaching. SPSS 22.0 was used for independent samples t test and Mann-Whitney U test. Results:The experimental group achieved significantly higher scores in theoretical assessment (84.65±8.06), total score of satisfaction with simulation-based teaching (101.00±5.13), and clinical learning and multiprofessional team dimensions (47.32±3.35) compared to the control group ( P<0.001). The experimental group achieved higher scores in objective structured clinical examination skill assessment (81.40±7.22), guiding feedback and reflection (37.50±3.04), and judgmental thinking and clinical reasoning (16.00±2.03) compared to the control group, though the differences were not significant ( P=0.977, 0.668, and 0.636). Conclusions:Interprofessional cooperative simulation enhances the shock patient emergency care abilities and satisfaction with simulation-based teaching for undergraduate nursing students.
10.Clinical and pathological features of 52 patients with myofasciitis
Chongzhu FAN ; Qingyue YUAN ; Meng YU ; Yiming ZHENG ; Wei ZHANG ; Zhaoxia WANG ; Yawen ZHAO ; Yun YUAN
Chinese Journal of Neurology 2025;58(12):1259-1267
Objective:To describe the clinical and pathological features of patients with myofasciitis.Methods:The clinical manifestations and auxiliary examination (laboratory, electromyogram, imaging and muscle biopsy) results of 52 patients with myofasciitis diagnosed by pathology at Peking University First Hospital from August 2002 to December 2024 were collected and analyzed.Results:Among the 52 patients (33 males and 19 females), the age of disease onset was (34.4±16.4) years (6.0-73.0 years) and the disease duration was 17.7 (0.3, 120.0) months; the main symptoms included myalgia in the distal limbs (28 cases, 53.8%), diffuse cutaneous or muscle sclerosis (21 cases, 40.4%), muscle weakness (22 cases, 42.3%) and limited joint activity (23 cases, 44.2%); 12 patients (23.1%) were combined with other diseases. All patients had no history of vaccination. Laboratory examinations showed that 80.8% (21/26) of patients had elevated C-reactive protein, 80.0% (20/25) had elevated erythrocyte sedimentation rate, and 26.5% (9/34) had elevated creatine kinase. Among 19 patients undergoing electromyography, 6 cases showed myogenic changes, 4 cases showed neurogenic changes, 1 case showed both myogenic and neurogenic changes, and 8 cases showed no obvious abnormality. Myofascial edema was observed in all 15 patients who underwent muscle magnetic resonance imaging, with partial involvement of adjacent muscles in some cases. According to myopathological changes, the 52 patients were divided into macrophagic myofasciitis in 41 cases (78.8%), lymphocytic myofasciitis in 7 cases (13.5%), and eosinophilic fasciitis in 4 cases (7.7%). Among the 52 patients, fibroblast proliferation in the myofascia was present in 39 cases (75.0%), subfascial muscle fiber atrophy in 28 cases (53.8%), and scattered muscle fiber necrosis and regeneration in 15 cases (28.8%). Major histocompatibility complex class Ⅰexpression on muscle fibers was positive in 89.5% (34/38) of patients, and membrane attack complex deposition on muscle fibers and/or capillary walls was present in 39.5% (15/38) of patients. Among 25 patients with follow-up, all received low-dose oral glucocorticoids, and 7 additionally received methotrexate, intravenous immunoglobulin, or hydroxychloroquine. During follow-up, 22 patients showed clinical improvement, 1 patient remained stable, and 2 patients died.Conclusions:Non-vaccine-associated macrophagic myofasciitis is the most common pathological subtype of myofasciitis. A few patients are concomitant with other diseases. Muscle magnetic resonance imaging is helpful in the diagnosis of the disease. Most patients respond to immunosuppressive treatment.

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