1.Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements.
Yuanyuan WANG ; Shuzhen FU ; Yong SHEN ; Qingxia XU
Chinese Journal of Medical Genetics 2026;43(4):265-272
OBJECTIVE:
To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.
METHODS:
The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).
RESULTS:
Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.
CONCLUSION
The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans
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Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
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Female
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Male
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Myeloid-Lymphoid Leukemia Protein/genetics*
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Histone-Lysine N-Methyltransferase/genetics*
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Adult
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Adolescent
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Chromosomes, Human, Pair 11/genetics*
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Child
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Transcriptional Elongation Factors/genetics*
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Gene Rearrangement
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Oncogene Proteins, Fusion/genetics*
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Retrospective Studies
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Young Adult
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Middle Aged
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Prognosis
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Child, Preschool
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DNA-Binding Proteins/genetics*
2.Progress of researches on Triatoma rubrofasciata-transmitted trypanosomes
Ziyi WANG ; Yong SHEN ; Lirong HUANG ; Yuanyuan LI ; Di WU ; Qin LIU
Chinese Journal of Schistosomiasis Control 2026;38(2):213-218
Triatoma rubrofasciata is currently the most widely distributed species of Triatoma worldwide, and it is also widespread in southern China. T. rubrofasciata has been proven to transmit Trypanosoma cruzi, and is one of vectors transmitting Chagas disease, which poses a potential risk for transmission of imported Chagas disease in China. Findings from latest studies have shown that T. rubrofasciata naturally infects T. lewisi, T. conorhini, and T. rangeli, which undoubtedly increases significant risks of and challenges to trypanosomiasis control in China. This article briefly describes the species of T. rubrofasciata-transmitted trypanosomes, and summarizes the epidemiological characteristics of trypanosomiasis, so as to provide insights into T. rubrofasciata-transmitted trypanosomiasis surveillance and control, and prevention of trypanosomiasis development and transmission in China.
3.Expert Consensus on Clinical Application of Pingxuan Capsules
Yuer HU ; Yanming XIE ; Yaming LIN ; Yuanqi ZHAO ; Yihuai ZOU ; Mingquan LI ; Xiaoming SHEN ; Wei PENG ; Changkuan FU ; Yuanyuan LI
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):201-210
As a patented characteristic medicine of Yi ethnic minority, Pingxuan capsules have the effects of nourishing the liver and kidney, pacifying the liver, and subduing Yang. With the main indications of dizziness, headache, palpitations, tinnitus, insomnia, dreaminess, waist and knee soreness caused by liver-kidney deficiency and liver Yang upward disturbance, Pingxuan capsules are widely used in the treatment of posterior circulation ischemic vertigo, vestibular migraine, benign paroxysmal positional vertigo. However, the current knowledge is limited regarding the efficacy, syndrome differentiation, and safety of this medicine. On the basis of summarizing the experience of clinicians and the existing evidence, this study invites clinical experts of traditional Chinese and Western medicine, pharmaceutical experts, and methodological experts from relevant fields across China to conduct evidence-based evaluation of Pingxuan capsules. The evaluation follows the Specifications for the Development of Clinical Expert Consensus on Chinese Patent Medicines issued by the Standardization Office of the China Association of Chinese Medicine, and reaches 5 recommendations and 16 consensus suggestions. The consensus clarifies the clinical applications, efficacy, dose, course of treatment, combination of medicines, precautions, and contraindications of Pingxuan capsules in the treatment of vertigo and explains the safety of clinical application. This consensus is applicable to clinicians (traditional Chinese medicine, Western medicine, and integrated traditional Chinese and Western medicine) and pharmacists in tertiary hospitals, secondary hospitals, and community-level medical and health institutions across China, providing a reference for the rational use of Pingxuan capsules in the treatment of vertigo. It is hoped that the promotion of this consensus can facilitate the rational use of drugs in clinical practice, reduce the risk of drug use, and give full play to the advantages of Pingxuan capsules in the treatment of vertigo diseases. This consensus has been reviewed and published by the China Association of Chinese Medicine, with the number GS/CACM330-2023.
4.Influence of different intraocular lens implantation methods on visual quality in patients with cataract
Ting SHEN ; Junjie MA ; Fengying HE ; Xiaoyan LYU ; Yuanyuan WANG
International Eye Science 2025;25(3):378-383
AIM: To observe the influence of different intraocular lens implantation methods on visual quality in patients with cataract.METHODS: Retrospective study. Totally 85 patients(113 eyes)with cataract who received phacoemulsification combined with intraocular lens implantation in the hospital June 2020 to December 2023 were selected. According to the different implanted lenses, they were divided into monofocal group(42 cases, 55 eyes)and bifocal group(43 cases, 58 eyes). The uncorrected near visual acuity(UNVA), uncorrected intermediate visual acuity(UIVA), uncorrected distance visual acuity(UDVA), best corrected near visual acuity(BCNVA), best corrected intermediate visual acuity(BCIVA), best corrected distance visual acuity(BCDVA), contrast sensitivity(CS), objective visual quality, National Eye Institute 25-item Visual Function Questionnaire(NEI-VFQ-25)scores and complications were compared between both groups of patients at 3 mo after surgery.RESULTS:At 3 mo after surgery, the UNVA(LogMAR)of the bifocal group was significantly better than that of the monofocal group(0.24±0.06 vs 0.53±0.13, P<0.001), but there were no statistical differences in UIVA, UDVA, BCNVA, BCIVA and BCDVA between the two groups(all P>0.05). The 18 c/d spatial frequency scotopic CS in the bifocal group at 3 mo after surgery was significantly lower than that in the monofocal group(0.84±0.17 vs 0.92±0.22, P<0.05), while the CS in other frequency was not statistically significant(all P>0.05); the objective scatter index(OSI)was higher in the bifocal group than that in the monofocal group(P<0.05), while OV 20% and OV 9% were lower than those in monofocal group(all P<0.05), but there were no statistically significant differences in modulation transfer function cut off(MTFcut off), Strehl ratio(SR)and OV 100% between the two groups(all P>0.05). The scores of overall visual acuity and near visual activity in the bifocal group at 3 mo after surgery were higher than those in the monofocal group(all P<0.001), but there were no statistical differences in the scores of dimensions of overall health, distance visual activity, peripheral visual acuity, color vision, dependence degree, social function, social role and mental health between the two groups(all P>0.05). Furthermore, there were no statistical significance in the incidence of complications in the two groups(P>0.05).CONCLUSION: Phacoemulsification combined with bifocal intraocular lens implantation can provide more ideal near visual acuity and visual-related quality of life for patients with cataract, but its objective visual quality is worse, The two types of intraocular lenses have their own advantages and disadvantages, and it is still necessary to choose the appropriate intraocular lens according to the actual needs of patients.
5.Influence of different intraocular lens implantation methods on visual quality in patients with cataract
Ting SHEN ; Junjie MA ; Fengying HE ; Xiaoyan LYU ; Yuanyuan WANG
International Eye Science 2025;25(3):378-383
AIM: To observe the influence of different intraocular lens implantation methods on visual quality in patients with cataract.METHODS: Retrospective study. Totally 85 patients(113 eyes)with cataract who received phacoemulsification combined with intraocular lens implantation in the hospital June 2020 to December 2023 were selected. According to the different implanted lenses, they were divided into monofocal group(42 cases, 55 eyes)and bifocal group(43 cases, 58 eyes). The uncorrected near visual acuity(UNVA), uncorrected intermediate visual acuity(UIVA), uncorrected distance visual acuity(UDVA), best corrected near visual acuity(BCNVA), best corrected intermediate visual acuity(BCIVA), best corrected distance visual acuity(BCDVA), contrast sensitivity(CS), objective visual quality, National Eye Institute 25-item Visual Function Questionnaire(NEI-VFQ-25)scores and complications were compared between both groups of patients at 3 mo after surgery.RESULTS:At 3 mo after surgery, the UNVA(LogMAR)of the bifocal group was significantly better than that of the monofocal group(0.24±0.06 vs 0.53±0.13, P<0.001), but there were no statistical differences in UIVA, UDVA, BCNVA, BCIVA and BCDVA between the two groups(all P>0.05). The 18 c/d spatial frequency scotopic CS in the bifocal group at 3 mo after surgery was significantly lower than that in the monofocal group(0.84±0.17 vs 0.92±0.22, P<0.05), while the CS in other frequency was not statistically significant(all P>0.05); the objective scatter index(OSI)was higher in the bifocal group than that in the monofocal group(P<0.05), while OV 20% and OV 9% were lower than those in monofocal group(all P<0.05), but there were no statistically significant differences in modulation transfer function cut off(MTFcut off), Strehl ratio(SR)and OV 100% between the two groups(all P>0.05). The scores of overall visual acuity and near visual activity in the bifocal group at 3 mo after surgery were higher than those in the monofocal group(all P<0.001), but there were no statistical differences in the scores of dimensions of overall health, distance visual activity, peripheral visual acuity, color vision, dependence degree, social function, social role and mental health between the two groups(all P>0.05). Furthermore, there were no statistical significance in the incidence of complications in the two groups(P>0.05).CONCLUSION: Phacoemulsification combined with bifocal intraocular lens implantation can provide more ideal near visual acuity and visual-related quality of life for patients with cataract, but its objective visual quality is worse, The two types of intraocular lenses have their own advantages and disadvantages, and it is still necessary to choose the appropriate intraocular lens according to the actual needs of patients.
6.Prognostic value of circulating plasma cell in newly diagnosed multiple myeloma treated with bortezomib, lenalidomide, and dexamethasone
Ruoru LIU ; Ye YAO ; Yuanyuan JIN ; Lu LIU ; Qinglin SHI ; Xuxing SHEN ; Lijuan CHEN
Chinese Journal of Hematology 2025;46(9):833-838
Objective:To investigate the prognostic value of circulating plasma cell (CPC) in patients with newly diagnosed multiple myeloma (NDMM) undergoing induction therapy with bortezomib, lenalidomide, and dexamethasone (VRD) regimen.Methods:This study retrospectively analyzed clinical data of 152 patients with NDMM treated with the VRD regimen as induction therapy in the Hematology Department of Jiangsu Provincial People’s Hospital from January 2019 to March 2024. The clinical characteristics, efficacy, and prognosis of patients with high and low CPC proportions are compared. The prognosis of patients in the CPC-positive group, CPC-negative conversion group, and CPC-negative group was analyzed.Results:This study included 152 patients with NDMM, comprising 76 males and 76 females, with a median age at onset of 62 (40–77) years. Compared with the group with CPC proportion of <0.105%, patients with CPC proportion of ≥0.105% demonstrated a higher proportion of International Staging System (ISS) stage Ⅲ ( P<0.001), Revised ISS stage Ⅲ ( P=0.023), HGB≤100 g/L ( P=0.015), β 2-microglobulin ≥3.5 g/L ( P<0.001), shorter median progression-free survival (PFS) period (24 months vs 52 months, P<0.001), and shorter median overall survival (OS) period (52 months vs not achieved, P=0.005). Patients in the CPC-negative group demonstrated a longer median PFS period (not reached vs 41 months vs 19 months, P<0.001) and median OS period (not reached vs not reached vs 26 months, P<0.001) compared with patients in the CPC-negative conversion group and CPC-positive group. Multivariate analysis revealed CPC proportion of ≥0.105% ( HR=3.79, 95% CI: 1.95–7.38, P<0.001), positive CPC after induction therapy ( HR=3.54, 95% CI: 1.41–8.87, P=0.007), and cytogenetic high risk ( HR=3.69, 95% CI: 1.85–7.37, P<0.001) as independent risk factors affecting the PFS of patients. Meanwhile, CPC of ≥0.105% ( HR=3.50, 95% CI: 1.29–9.48, P=0.014) and positive CPC after induction therapy ( HR=4.12, 95% CI: 1.13–15.03, P=0.032) are independent risk factors affecting the OS of patients. Conclusion:Patients with NDMM demonstrating high CPC expression have a worse prognosis, with CPC level as an independent prognostic factor.
7.Prognostic value of high-risk cytogenetic abnormalities inmultiple myeloma
Xuxing SHEN ; Jiapei YU ; Rui GUO ; Ying XU ; Yuanyuan JIN ; Qinglin SHI ; Lijuan CHEN
Chinese Journal of Hematology 2025;46(10):958-962
To retrospectively analyze the clinical data of 465 newly diagnosed patients with multiple myeloma (NDMM) admitted to the First Affiliated Hospital of Nanjing Medical University from December 2016 to December 2024, and compare the prognostic value of high-risk cytogenetic abnormalities (HRCAs) in NDMM patients under mSMART 3.0 and mSMART 4.0 risk stratification systems. The results showed that in both stratification systems, the prognosis of high-risk patients was worse than that of standard-risk patients. Moreover, a higher number of HRCAs was associated with a worse prognosis. The mSMART 4.0 system, which considers the coexistence of various cytogenetic abnormalities, provides a more precise definition of HRCA than mSMART 3.0. It demonstrates a superior ability to differentiate between different categories of cytogenetic risk.
8.Clinical characteristics of 103 children with drug-induced hypersensitivity syndrome: a retrospective study
Lei JIAO ; Yuan LIANG ; Yang WANG ; Chunping SHEN ; Xin XIANG ; Zhe XU ; Yuanyuan XIAO ; Li LI ; Ying LIU ; Bin ZHANG ; Zigang XU ; Lin MA
Chinese Journal of Dermatology 2025;58(10):936-942
Objective:To investigate clinical characteristics, treatment approaches, and prognosis of drug-induced hypersensitivity syndrome (DIHS) in children.Methods:A retrospective analysis was performed on clinical data from pediatric inpatients with DIHS in Department of Dermatology, Beijing Children's Hospital from 2009 to 2023. The clinical data included demographic characteristics, clinical manifestations, laboratory findings, treatment regimens, and outcomes.Results:A total of 103 children with DIHS were included, comprising 54 males (52.4%) and 49 females (47.6%), with ages ( M [ Q1, Q3]) of 2.3 (1.2, 4.5) years. Primary causative drugs were antibiotics (52 cases, 45.2%), antiepileptic drugs (41 cases, 35.7%), and nonsteroidal anti-inflammatory drugs (19 cases, 16.5%), with a median latency period of 12 days. All patients presented with rashes, including 72 (69.9%) with maculopapular rashes, 69 (67.0%) with edema (including 46 with facial edema). Lip involvement occurred in 25 cases (24.3%), and mucosal involvement was noted in 11 cases (10.7%). Additionally, 102 (99.0%) patients had fever, and 79 (76.7%) presented with lymphadenectasis. Eosinophilia was present in 64 cases (62.1%). Among 84 patients tested for atypical lymphocytes, 51 (60.7%) showed elevated percentages of atypical lymphocytes. Liver involvement was noted in 94 cases (91.3%), followed by pulmonary involvement in 31 (30.1%), gastrointestinal symptoms in 25 (24.3%), cardiac involvement in 14 (13.6%), renal involvement in 10 (9.7%), and pancreatic involvement in 7 cases (6.8%). Among 82 patients tested for blood immunocytes, 49 (59.8%) showed decreased percentages of B lymphocytes, and 69 (84.1%) showed decreased percentages of natural killer cells. Of 88 patients tested for serum immunoglobulins, 40 (45.5%) showed decreased IgA levels. Among 20 patients tested for serum cytokines, 15 (75.0%), 15 (75.0%), 13 (65.0%), and 12 (60.0%) showed elevated levels of interleukin (IL) -5, IL-6, IL-10, and interferon-γ, respectively. All patients received systemic glucocorticoid therapy, among whom 86 additionally received intravenous immunoglobulin therapy, 4 received Janus kinase inhibitors, and 3 received dupilumab. Five patients died, 9 developed hemophagocytic lymphohistiocytosis, 6 developed bronchiolitis obliterans, and 5 experienced long-term immune-related sequelae. Conclusions:Among these children with DIHS, antibiotics were the most common causative drugs, and the latency period could be shorter than 2 weeks. In addition to the common involvement of the liver and lungs, gastrointestinal and cardiac impairments were relatively frequent, while renal involvement was rare. Immunological features included decreased percentages of B lymphocytes and natural killer cells, reduced IgA levels, and elevated levels of cytokines such as IL-5, IL-6, IL-10, and interferon-γ.
9.Application of online merge offline mode based on advanced intelligent virtual simulation experimental platform in clinical skills teaching
Chao ZHANG ; Yuanyuan SHEN ; Sen CHEN
Basic & Clinical Medicine 2025;45(10):1387-1391
Objective To evaluate the application of an online merge offline mode(OMO)based on an advanced intelligent virtual simulation experimental platform in clinical skills teaching.Methods Two classes were random-ly selected from the clinical medicine major of Hubei Medical University in 2021 and divided into a control group and an experimental group.The control group adopted the traditional lecture-based learning(LBL)teaching mode,while the experimental group adopted the advanced intelligent virtual simulation experimental platform OMO teaching mode for pilot teaching and effect evaluation.Results After implementing the OMO teaching mode of the advanced intelligent virtual simulation experimental platform,the clinical skill operation level,learning efficiency,and teaching effect satisfaction of the experimental group students were higher than those of the control group(P<0.05).Conclusions Based on the advanced intelligent virtual simulation experimental platform,the OMO teaching mode deeply integrates information technology and clinical skills training,effectively enhances the practical ability and learning efficiency of medical students,and provides a scalable innovative path for the digital transformation of medical education.
10.Identification of shared key genes and pathways in osteoarthritis and sarcopenia patients based on bioinformatics analysis.
Yuyan SUN ; Ziyu LUO ; Huixian LING ; Sha WU ; Hongwei SHEN ; Yuanyuan FU ; Thainamanh NGO ; Wen WANG ; Ying KONG
Journal of Central South University(Medical Sciences) 2025;50(3):430-446
OBJECTIVES:
Osteoarthritis (OA) and sarcopenia are significant health concerns in the elderly, substantially impacting their daily activities and quality of life. However, the relationship between them remains poorly understood. This study aims to uncover common biomarkers and pathways associated with both OA and sarcopenia.
METHODS:
Gene expression profiles related to OA and sarcopenia were retrieved from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) between disease and control groups were identified using R software. Common DEGs were extracted via Venn diagram analysis. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were conducted to identify biological processes and pathways associated with shared DEGs. Protein-protein interaction (PPI) networks were constructed, and candidate hub genes were ranked using the maximal clique centrality (MCC) algorithm. Further validation of hub gene expression was performed using 2 independent datasets. Receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of key genes for OA and sarcopenia. Mouse models of OA and sarcopenia were established. Hematoxylin-eosin and Safranin O/Fast Green staining were used to validate the OA model. The sarcopenia model was validated via rotarod testing and quadriceps muscle mass measurement. Real-time reverse transcription PCR (real-time RT-PCR) was employed to assess the mRNA expression levels of candidate key genes in both models. Gene set enrichment analysis (GSEA) was conducted to identify pathways associated with the selected shared key genes in both diseases.
RESULTS:
A total of 89 common DEGs were identified in the gene expression profiles of OA and sarcopenia, including 76 upregulated and 13 downregulated genes. These 89 DEGs were significantly enriched in protein digestion and absorption, the PI3K-Akt signaling pathway, and extracellular matrix-receptor interaction. PPI network analysis and MCC algorithm analysis of the 89 common DEGs identified the top 17 candidate hub genes. Based on the differential expression analysis of these 17 candidate hub genes in the validation datasets, AEBP1 and COL8A2 were ultimately selected as the common key genes for both diseases, both of which showed a significant upregulation trend in the disease groups (all P<0.05). The value of area under the curve (AUC) for AEBP1 and COL8A2 in the OA and sarcopenia datasets were all greater than 0.7, indicating that both genes have potential value in predicting OA and sarcopenia. Real-time RT-PCR results showed that the mRNA expression levels of AEBP1 and COL8A2 were significantly upregulated in the disease groups (all P<0.05), consistent with the results observed in the bioinformatics analysis. GSEA revealed that AEBP1 and COL8A2 were closely related to extracellular matrix-receptor interaction, ribosome, and oxidative phosphorylation in OA and sarcopenia.
CONCLUSIONS
AEBP1 and COL8A2 have the potential to serve as common biomarkers for OA and sarcopenia. The extracellular matrix-receptor interaction pathway may represent a potential target for the prevention and treatment of both OA and sarcopenia.
Sarcopenia/genetics*
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Osteoarthritis/genetics*
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Computational Biology/methods*
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Humans
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Protein Interaction Maps/genetics*
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Animals
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Mice
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Gene Expression Profiling
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Gene Ontology
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Transcriptome
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Male
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Signal Transduction/genetics*
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Gene Regulatory Networks

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