1.Intelligent blood logistics reinvention: HFMEA-applied transport pathway optimization for biopharmaceutical safety assurance
Qiming YING ; Fangfang JIN ; Fengmin XU ; Jiaji HU ; Danni SONG ; Bin WU ; Qinhong XU ; Dingfeng LYU
Chinese Journal of Blood Transfusion 2026;39(1):123-127
Objective: To explore the application effectiveness of healthcare failure mode and effect analysis (HFMEA) in optimizing intelligent blood logistics transport pathways for safety assurance. Methods: Data from 1 851 cases of intelligent blood logistics transport were collected between September 2023 and March 2025. Based on the implementation phases of HFMEA measures, the cases were divided into a control group (n=120), observation group 1 (n=219), and observation group 2 (n=1 512). Through systematic analysis of the transport processes, hazard scoring and decision tree analysis were conducted for each process, and phased optimization measures were implemented for high-risk failure modes. Results: The transport duration of intelligent blood logistics was 35.5 (20.8, 71.1) min in the control group, 25.1 (10.9, 40.7) min in observation group 1, and 9.9 (4.2, 44.5) min in observation group 2. Observation group 2 exhibited significantly shorter transport time compared to both observation group 1 and the control group, with statistically significant differences between groups (P<0.000 1). Conclusion: The implementation of HFMEA-driven measures significantly reduced intelligent blood logistics transport duration, thereby fostering the evolution of smart hospital ecosystems while enhancing healthcare service quality and operational efficiency.
2.Exosomes Treat Ischemic Stroke by Regulation of Ferroptosis Through the NRF2/SLC7A11/GPX4 Pathway in Mice
Yingtao XU ; Mengmeng WANG ; Ping LIN ; Haitao CHI ; Yi WANG ; Ying BAI
Laboratory Animal and Comparative Medicine 2026;46(1):20-31
ObjectiveA middle cerebral artery occlusion (MCAO) mouse model is established by electrocoagulation of the middle cerebral artery. The study examines the mechanism by which exosomes (EXO) derived from human amniotic mesenchymal stem cells (hAMSCs) improve ischemic stroke and regulate neural ferroptosis-related injury. MethodsThirty-two SPF-grade male C57BL/6J mice aged 6 - 8 weeks were randomly divided into four groups (n=8 per group): sham group (Sham), model group (MCAO), MCAO plus normal saline group (MCAO+NaCl), and MCAO plus exosome group (MCAO+EXO). The mouse MCAO model was established by electrocoagulation of the middle cerebral artery. Mice in the Sham group underwent exposure of the middle cerebral artery without electrocoagulation. Twenty-four hours before MCAO induction, mice in the MCAO+EXO group received a tail vein injection of 100 μL of exosomes derived from the culture supernatant of hAMSCs at a concentration of 9.5×1011 particles/mL. Mice in the MCAO+NaCl group were injected with an equal volume of normal saline via the tail vein. Twenty-four hours after model establishment, neurological deficits were evaluated using the Longa neurological deficit scoring system. Cerebral infarct volume was assessed by 2,3,5-triphenyltetrazolium chloride (TTC) staining. Hematoxylin and eosin (HE) staining was performed to evaluate morphological changes of neurons in the ischemic brain regions. The contents of ferrous iron (Fe2+), malondialdehyde (MDA), total glutathione (total GSH), oxidized glutathione (GSSG), and reduced glutathione (GSH) in the infarct core and peri-infarct regions were determined using microcolorimetric assays to evaluate differences among groups. The mRNA expression levels of ferroptosis-related factors, including nuclear factor erythroid 2-related factor 2 (NRF2), solute carrier family 7 member 11 (SLC7A11), and glutathione peroxidase 4 (GPX4) in the infarct core and peri-infarct regions were measured by real-time quantitative PCR. Protein expression levels of NRF2, SLC7A11, and GPX4 in the infarct and peri-infarct regions of each group were analyzed by Western blotting. ResultsCompared with the MCAO group, the Longa neurological deficit score was significantly reduced in the MCAO+EXO group (P<0.01). Prominent cerebral infarction was observed in the MCAO group, whereas the infarct volume ratio was markedly decreased in the MCAO+EXO group compared with the MCAO group (P<0.001). Histopathological analysis revealed that mice in the MCAO group exhibited obvious neuronal damage, including cytoplasmic vacuolar degeneration, nuclear pyknosis and fragmentation, unclear nuclear structure, and disorganized neuronal arrangement, compared with the Sham group. In contrast, neurons in the MCAO+EXO group showed relatively preserved morphology, with intact cellular structures and large, regular nuclei located centrally within the cells. Biochemical analysis demonstrated that Fe2+ and MDA levels in the infarct core and peri-infarct regions were significantly increased in the MCAO group compared with the Sham group (P<0.001). These levels were significantly reduced in the MCAO+EXO group compared with the MCAO group (P<0.01). In addition, total glutathione (total GSH), oxidized glutathione (GSSG), and reduced glutathione (GSH) levels were markedly decreased in the MCAO group relative to the Sham group (P<0.01). Compared with the MCAO group, the MCAO+EXO group exhibited significantly increased levels of total GSH and GSH (P<0.001), while no significant change was observed in GSSG levels (P>0.05). Furthermore, both mRNA and protein expression levels of nuclear factor erythroid 2-related factor 2 (NRF2), solute carrier family 7 member 11 (SLC7A11), and glutathione peroxidase 4 (GPX4) were significantly downregulated in the MCAO group compared with the Sham group (P<0.01, P<0.001). In contrast, both mRNA and protein expression levels of NRF2, SLC7A11, and GPX4 were significantly upregulated in the MCAO+EXO group compared with the MCAO group (P<0.05). ConclusionIn the mouse MCAO model, tail vein injection of exosomes derived from hAMSCs can improve motor function, reduce infarct area, protect neuronal cell morphology, and reduce the degree of nerve injury. Exosomes may exert a protective effect by activating the NRF2/SLC7A11/GPX4 pathway and reducing ferroptosis in neuronal cells of MCAO model mice.
3.Correlation analysis of inflammatory markers (NLR/PLR/SII) with the severity of intrauterine adhesions
Ying WANG ; Xuan XU ; Longyu ZHANG ; Rong WU ; Jingjing HU ; Wenjuan YANG ; Xiao WU ; Zhaolian WEI
Acta Universitatis Medicinalis Anhui 2026;61(1):146-150
ObjectiveTo investigate the correlation between neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic immune-inflammation index (SII) and the severity of intrauterine adhesions (IUA). MethodsThe retrospective study included 380 patients who underwent transcervical resection of adhesions (TCRA) from December 2019 to March 2025. Based on the American Fertility Society (AFS) classification, patients were divided into mild (n=61), moderate (n=225), and severe (n=94) groups. NLR, PLR, and SII were calculated from preoperative blood tests. Statistical analyses included Kruskal-Wallis test and ordinal Logistic regression. ResultsNLR, PLR, and SII were significantly higher in the severe IUA group compared to the mild group (P<0.05), with SII showing the strongest predictive ability (OR=1.004, P=0.001). The number of intrauterine procedures was an independent risk factor (OR=1.27/level, P=0.016). The predictive model [Logit(P)=-0.676+0.241×operation times+0.004×SII] effectively identified severe IUA cases. ConclusionInflammatory markers (particularly SII) are correlated with IUA severity and may serve as non-invasive tools for clinical assessment.
4.Mechanistic study of Tripterygium wilfordii multiglucoside in improving nephrotic syndrome via regulating the HIF-1α/miR-155-5p/Nrf2 pathway
Yifan TAO ; Chundong SONG ; Xu WANG ; Chong ZHANG ; Ying SU ; Xidong JIA ; Haoran JIANG
China Pharmacy 2026;37(5):602-606
OBJECTIVE To study the improvement effect and mechanism of Tripterygium wilfordii multiglucoside (TWM) on nephrotic syndrome in rats. METHODS The nephrotic syndrome model was established by intravenous injection of adriamycin via the tail vein. The modeling rats were randomly divided into the model group (distilled water), prednisone group (10 mg/kg), and TWM high- and low-dose groups (10 and 5 mg/kg, respectively). Additionally, blank group (distilled water) without model induction was established. Each group consisted of 9 rats. Rats in each group were administered the corresponding drugs or distilled water by gavage, once a day, for 6 consecutive weeks. The histopathological morphology of kidney tissues in rats was observed; the levels of 24-hour urinary protein (24 h-UTP) and serum biochemical indicators [albumin (ALB), blood urea nitrogen (BUN), serum creatinine (SCr), cholesterol (CHOL), and triglyceride (TG)] in rats were determined; the levels of oxidative stress indicators [superoxide dismutase (SOD), malondialdehyde (MDA)] in kidney tissue of rats were determined; expressions of hypoxia-inducible factor-1α (HIF-1α)/microRNA-155-5p (miR-155-5p)/nuclear factor erythriod 2- related factor 2 (Nrf2) signaling pathway-related mRNA and protein in the renal tissues of rats were detected. RESULTS Compared with the blank group, the rats in the model group exhibited disordered renal tissue structure, with a small amount of glomerular necrosis and edema of the renal tubular epithelial cells. 24 h-UTP, serum levels of SCr, BUN, CHOL and TG, MDA content, mRNA and protein expressions of HIF-1α and Keap1 as well as the expression of miR-155-5p in renal tissues were increased significantly ( P <0.05). Serum level of ALB, SOD level in renal tissue as well as mRNA and protein expressions of Nrf2 were decreased significantly ( P <0.05). Compared with the model group, TWM high-dose and low-dose groups exhibited significant improvements in renal injury, with notable reversals in the levels of the above quantitative indicators ( P <0.05). CONCLUSIONS TWM can alleviate oxidative stress-induced damage and thereby improve nephrotic syndrome in rats by regulating the HIF-1α/miR-155-5p/Nrf2 signaling pathway.
5.Transcriptomic responses of Bulinus globosus to extreme temperature and drought stress
Xinyao WANG ; Dandan PENG ; Ying YANG ; Jianfeng ZHANG ; Zhiqiang QIN ; Kun YANG ; Shizhu LI ; Jing XU
Chinese Journal of Schistosomiasis Control 2026;38(1):29-37
Objective To examine the impact of extreme temperature and drought stress on the survival of Bulinus globosus, so as to provide the theoretical evidence for the genomic research of Bulinus in absence of reference genes. Methods B. globosus snail samples were collected from Kiwani Shehia in Pemba Island, Zanzibar, Tanzania, and offspring snails were obtained through laboratory breeding and reproduction. A total of 120 10-week-old B. globosus snails from the same generation were selected and randomly assigned into four groups, including the high-temperature drought (HD) group, normal temperature drought (D) group, low-temperature drought (LD) group, and the control (C) group, of 30 snails in each group. Snails in HD, D, and LD groups were placed in beakers containing dry soil at the bottom and subsequently housed in climate chambers at 35, 26 ℃, and 10 ℃, respectively, while snails in Group C were maintained in 500 mL petri dishes containing dechlorinated tap water at 26 ℃. Following 3 days of breeding, living snails in each group were collected, and soft tissues were dissected and isolated. Total RNA was extracted from snail soft tissues for library construction, followed by high-throughput sequencing on the Illumina HiSeq 4000 sequencing system. De novo transcriptome assembly was performed using the Trinity software, and the longest transcripts were selected as unigenes. Gene functional annotations of unigenes were conducted using the Diamond software against Gene Ontology (GO) knowledgebase, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway database, NCBI non-redundant (NR) protein sequences database, Protein Family (Pfam) database, and UniProtKB/Swiss-Prot (Swiss-Prot) knowledgebase. GO and KEGG enrichment analyses of differentially expressed genes (DEGs) were performed using the topGO and clusterProfiler software, respectively. In addition, four relevant genes were selected for validation using a real-time quantitative PCR (qRT-PCR) assay to verify the reliability of transcriptome sequencing results. Results Following 3 days of breeding, there were 7, 20, 28, and 30 survival B. globosus snails in HD, LD, D, and C groups, with corresponding survival rates of 23.33% (7/30), 66.67% (20/30), 93.33% (28/30), and 100.00% (30/30), respectively (χ2 = 52.72, P < 0.001). De novo transcriptome assembly generated 176 942 unigenes, with annotation rates of 0.98%, 13.49%, 26.46%, 12.48%, and 14.39% against GO knowledgebase, KEGG pathway database, NR protein sequences database, Pfam database, and Swiss-Prot knowledgebase, respectively. There were 33 up-regulated and 72 down-regulated genes in Group D, 483 up-regulated and 815 down-regulated genes in Group HD, and 245 up-regulated and 172 down-regulated genes in Group LD relative to in Group C. Following removal of overlapping genes across groups and unmatched genes, 11 candidate genes were identified. GO and KEGG analyses revealed 3 heat shock protein (HSP)-related DEGs in these 11 candidate genes, which were annotated as HSP12.2, HSP70, and HSP20 genes and were all significantly up-regulated in each treatment group. Three immune and nervous system-related DEGs were identified, and were all significantly down-regulated in each treatment group, which were involved in the neural cell adhesion molecule L1-like protein pathway, fibrinogen binding protein pathway, and leukocyte elastase inhibitor-like protein pathway. qRT-PCR assay quantified that the expression trends of four genes related to temperature and drought stress across different treatment groups were highly consistent with transcriptome sequencing data. Conclusion The survival rate of B. globosus significantly reduces under combined stresses of extreme temperature and drought, possibly due to an imbalance in its cellular homeostasis regulatory system.
6.Systematic review of predictive models for delayed graft function after kidney transplantation
Qimeng ZHU ; Wei JIANG ; Ying CHEN ; Danfeng TANG ; Yi XU ; Jian SHI
Organ Transplantation 2026;17(3):495-502
Objective To systematically review the studies on predictive models for delayed graft function (DGF) after kidney transplantation. Methods Databases including China Biology Medicine Database, China National Knowledge Infrastructure, Wanfang Database, VIP Database, PubMed, Web of Science and CINAHL were searched to collect studies on predictive models for DGF after kidney transplantation published from the establishment of each database to June 29, 2025. Two researchers screened the literatures according to the inclusion and exclusion criteria, evaluated the quality of the literatures using the prediction model risk of bias assessment tool (PROBAST), and conducted a meta-analysis of the common predictors of the models using R software. Results A total of 12 literatures were included, involving 14 predictive models with sample sizes ranging from 103 to 24 653 cases. Donor serum creatinine level, cold ischemia time, donor age and donor body mass index were the top four common predictors. All the predictive models were at high risk of bias and low in applicability. The results of meta-analysis showed that abnormal donor body mass index, advanced donor age, prolonged cold ischemia time and elevated donor serum creatinine level were all associated with an increased risk of DGF after transplantation (all P<0.01), but there was high heterogeneity among the studies. Fixed-effect model and random-effect model were used to re-pool the effect sizes separately. The results indicated that the fixed-effect model and random-effect model had good consistency in terms of donor body mass index, donor age and cold ischemia time, while there was a significant difference in the effect sizes of the two models for donor serum creatinine level. Conclusions The predictive models for DGF risk after kidney transplantation have good predictive performance, but the overall risk of bias is high. In the future, large-sample, multicenter and high-quality prospective clinical studies should be carried out to optimize the predictive models, so as to improve their predictive ability and clinical application value.
7.Mechanism of Huangqin decoction in improving ulcerative colitis based on the gut microbiota-tryptophan metabolism-aryl hydrocarbon receptor axis
Ying CHEN ; Rong XU ; Yao HE ; Ying LI ; Zhiyu ZHANG ; Zhijiu WU
China Pharmacy 2026;37(9):1173-1179
OBJECTIVE To investigate the mechanism of Huangqin decoction in improving ulcerative colitis (UC) through the gut microbiota-tryptophan metabolism-aryl hydrocarbon receptor (AhR) axis. METHODS Mice were randomly divided into normal group (normal saline), model group (normal saline), microbiota depletion-model group (normal saline), microbiota depletion-Huangqin decoction group (9.1 g/kg, by crude drug, similarly hereinafter), Huangqin decoction group and mesalazine group (positive control group, 0.4 g/kg), with 6 mice in each group. Microbiota depletion was achieved by providing free access to a mixed antibiotics for 10 days. The UC model was induced by administering 2.5% dextran sulfate sodium solution for 7 days. After successful modeling, each treatment group received corresponding drugs or normal saline intragastrically once daily for 10 days. After the final administration, body weight change ratio, disease activity index (DAI) score, and colon length were evaluated; colon pathological changes were observed; serum levels of interleukin-6 (IL-6), IL-10, IL-22, and tumor necrosis factor-α (TNF-α) were measured; the expressions of Occludin, zonula occluden-1 (ZO-1), and AhR in colon tissue were detected; fecal samples were subjected to high-throughput sequencing to analyze targeted tryptophan metabolomics. RESULTS Compared with the model group, Huangqin decoction group showed reduced infiltration of inflammatory cells in the colon tissue and restoration of the intestinal mucosal structure. Body weight change ratio, colon length, serum content of IL-10, the expressions of Occludin, ZO-1 and AhR in colon tissue and the contents of tryptophan metabolites indole-3-propionic acid (IPA), N -acetylserotonin (NAS) and indole-3-acetic acid (IAA) were all significantly increased ( P <0.05); DAI score, serum levels of IL-6, TNF-α, and IL-22 and the content of tryptophan metabolite indole-3-ethanol were significantly decreased ( P <0.05); gut microbiota structure was improved, with increased relative abundances of beneficial bacteria such as Lactobacillus , and decreased relative abundances of pathogenic bacteria such as Escherichia-Shigella . However, after antibiotic-induced microbiota depletion, although Huangqin decoction significantly increased the content of NAS in the feces of mice, the expression of AhR protein in colon tissue did not increase concurrently. CONCLUSIONS Huangqin decoction can repair the intestinal mucosal barrier in UC mice by regulating the gut microbiota and promoting the production of IPA and IAA, thereby activating AhR. This suggests that an intact gut microbiota is an important prerequisite for Huangqin decoction to exert its AhR-regulating effects.
8.Investigation of the regulatory effect of overexpressed Ptpn2 on SiO2-mediated mouse alveolar macrophages based on iTRAQ technology
Yi WEI ; Yaqian LI ; Xinjie LI ; Mengfei FENG ; Fuyu JIN ; Hong XU ; Ying ZHU
Acta Universitatis Medicinalis Anhui 2026;61(2):183-191
ObjectiveTo investigate the regulatory effect of overexpressed protein tyrosine phosphatase non-receptor type 2 (Ptpn2) on the inflammatory response of mouse alveolar macrophages (MH-S) induced by SiO₂. MethodsCells with overexpressed Ptpn2 were constructed and induced by SiO₂. The experimental groups were divided into four groups: the negative control group with an empty vector (NC), the overexpressed Ptpn2 group (P), the negative control group with an empty vector + SiO₂ induction (NS), and the overexpressed Ptpn2 + SiO₂ induction group (PS). Isobaric tags for relative and absolute quantification (iTRAQ) combined with liquid chromatography-tandem mass spectrometry (LC-MS/MS) were used to screen differential proteins, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analyses. Immunofluorescence staining was used to detect the expressions of Tumor necrosis factor (TNF) α, Gasdermin D (GSDMD), and Transforming growth factor (TGF)-β1. Western blot was used to detect the protein expression levels of PTPN2, Toll-like receptor 4 (TLR4), tumor necrosis factor-α (TNF-α), nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3), and proteins related to the TGF-β1 signaling pathway in the cells of each group. ResultsiTRAQ results identified 144 differential proteins among the four groups. GO analysis showed that in biological processes (BP), these differential proteins were mainly enriched in IκB kinase/nuclear factor-κB (NF-κB) signaling, cell activation and signal transduction involved in immune responses, and regulation of receptor signaling pathways by signal transducer and activator of transcription (STAT), etc. KEGG analysis revealed that the differential proteins were mainly enriched in Toll-like receptor signaling pathway, NF-κB signaling pathway, NOD-like receptor signaling pathway, TGF-β signaling pathway, and TNF signaling pathway. The results of immunofluorescence staining showed that compared with the NC group, the expressions of TNF α, GSDMD, and TGF-β1 in the cells of the NS group increased (P < 0.05); compared to the NS group, the expression of the aforementioned proteins in the PS group decreased in cellular proteins(P < 0.05). The results of Western blot showed that compared with the NC group, the protein expression levels of PTPN2, p-NF-κB,MyD88,TLR4,NLRP3,GSDMD,Caspase-1,IL-1β, TGF-βR1, TGF-βR,p-Smad2/3 in the NS group were significantly upregulated (P < 0.05); compared with the NS group, the expression levels of the aforementioned proteins in the PS group were significantly downregulated (P < 0.05). ConclusionOverexpression of Ptpn2 can inhibit the protein expressions of TLR4-TNF-α signaling, NLRP3 signaling, and TGF-β1 signaling closely related to inflammatory response in SiO₂-mediated MH-S macrophages.
9.Efficacy and safety of Babaodan Capsule in patients with chronic hepatitis B virus infection comorbid with gallbladder polyps
Qianqian NIU ; Huan CHEN ; Ying ZHENG ; Chunyan GOU ; Chen XU ; Li LI ; Xinxin WANG ; Jianping LIU ; Zhaolan LIU ; Xiuhui LI
Journal of Clinical Hepatology 2026;42(2):304-311
ObjectiveTo investigate the efficacy and safety of Babaodan Capsule (BBD) in the treatment of patients with chronic hepatitis B virus (HBV) infection with damp-heat in the liver and gallbladder comorbid with gallbladder polyps. MethodsA randomized, double-blinded, placebo-controlled single-center trial was conducted among 120 patients with chronic HBV infection who were admitted to Beijing YouAn Hospital, Capital Medical University, from August 2020 to April 2023, and they were divided into treatment group (BBD) and control group (placebo), with 60 patients in each group. The course of treatment was 24 weeks, and follow-up assessments were conducted every 4 weeks. The primary outcome measures were the number and maximum diameter of gallbladder polyps (assessed by ultrasound), and the secondary outcome measures included traditional Chinese medicine (TCM) syndrome score, blood lipid levels, and liver function parameters. The independent-samples t test or the Wilcoxon rank-sum test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups; the Wilcoxon rank-sum test was used for comparison of ranked data between two groups; the generalized estimating equation was used to analyze repeated measures data. ResultsAfter 8 weeks of treatment, the treatment group had a significantly smaller diameter of polyps and a significantly lower number of polyps than the control group (Z=-1.76 and -1.80, both P<0.05), and after 24 weeks of treatment, the treatment group had a significantly higher polyp reduction rate than the control group (30.51% vs 10.91%, P<0.05). The subgroup analysis showed that patients receiving combined antiviral therapy, male patients, patients with a diameter of polyps of <5 mm, and patients with multiple polyps tended to achieve significantly greater benefits. At week 8 of treatment, the treatment group had a significantly better TCM syndrome score than the control group (Z=-2.35, P<0.05); after treatment, compared with the control group, the treatment group had a significantly greater increase in high-density lipoprotein (Z=-1.85, P<0.05) and significantly lower levels of alanine aminotransferase (Z=-2.06, P <0.05), aspartate aminotransferase (Z=-2.13, P<0.05), total bilirubin (Z=-2.12, P<0.05), and direct bilirubin (Z=-3.09, P<0.05). No serious adverse events were reported in either group. ConclusionBBD can effectively reduce the size of gallbladder polyps, improve TCM syndrome score, and reduce the level of bilirubin in patients with chronic HBV infection with damp-heat in the liver and gallbladder, with a favorable safety profile, and it may be more suitable for patients receiving combined antiviral therapy and specific subgroups (male patients, patients with a diameter of polyps of <5 mm, and patients with multiple polyps.
10.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

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