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KMT2C mutation in sporadic cribriform morular thyroid carcinoma: A rare case report and review of literature. 散发性筛状甲状腺样癌中KMT2C突变:一例罕见病例报告及文献复习。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-02 DOI: 10.1177/03000605251326789
Yingzheng Gao, Jinwang Ding, Jingjing Xu, Jiahao Chen, Weidong Du
{"title":"<i>KMT2C</i> mutation in sporadic cribriform morular thyroid carcinoma: A rare case report and review of literature.","authors":"Yingzheng Gao, Jinwang Ding, Jingjing Xu, Jiahao Chen, Weidong Du","doi":"10.1177/03000605251326789","DOIUrl":"10.1177/03000605251326789","url":null,"abstract":"<p><p>Cribriform morular thyroid carcinoma is a rare thyroid malignancy with uncertain histogenesis. It predominantly affects young women and is strongly associated with familial adenomatous polyposis. This paper reports a rare case of sporadic cribriform morular thyroid carcinoma in a female patient in her early 50s, with somatic genetic testing revealing a <i>KMT2C</i> mutation. She presented with a solitary lesion confined to the right thyroid lobe and had no family history of familial adenomatous polyposis. Colonoscopy and germline genetic testing revealed no abnormalities. This finding suggests a potential link between <i>KMT2C</i> mutations and sporadic cribriform morular thyroid carcinoma. The clinical and imaging manifestations of this malignancy lack specificity, and the final diagnosis depends on routine pathological examination and immunohistochemical analysis. This report indicates the need for the clinical investigation of family history and genetic testing, thus contributing to the clinical realization of standardized follow-up monitoring and management.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251326789"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of hub genes related to DNA damage response in asthma via combinative bioinformatics strategy. 结合生物信息学策略鉴定哮喘DNA损伤反应相关枢纽基因。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-27 DOI: 10.1177/03000605251332204
Li He, Fangmei Lin, Yawen Zhou, Meihua Dong, Mingfang Deng, Jing Li, Nan Jia
{"title":"Identification of hub genes related to DNA damage response in asthma via combinative bioinformatics strategy.","authors":"Li He, Fangmei Lin, Yawen Zhou, Meihua Dong, Mingfang Deng, Jing Li, Nan Jia","doi":"10.1177/03000605251332204","DOIUrl":"https://doi.org/10.1177/03000605251332204","url":null,"abstract":"<p><p>ObjectiveEmerging evidence has indicated the potential role of DNA damage response in asthma pathogenesis, but the underlying mechanisms remain elusive. Therefore, this study aimed to identify key diagnostic DNA damage response-related genes in asthma and explore their regulatory networks.MethodsDifferentially expressed genes between healthy individuals and patients with asthma were identified using the Gene Expression Omnibus database. Hub DNA damage response-related differentially expressed genes were determined via protein-protein interaction network and verified through gene expression analysis. Receiver operating characteristic curve was employed to identify diagnostic genes. Transcription factor-microRNA-target gene interactions were analyzed to uncover the regulatory networks in asthma pathogenesis. In this observational study, reverse transcription quantitative polymerase chain reaction was used to validate gene expression levels in healthy individuals and patients with asthma.ResultsSix of the nine hub genes (<i>ATM</i>, <i>PCNA</i>, <i>CUL4A</i>, <i>PARP2</i>, <i>HLTF</i>, and <i>NBN</i>) were identified as key diagnostic genes. These genes may contribute to asthma progression by regulating inflammatory pathways, such as cyclic GMP-AMP synthase-stimulator of interferon genes, senescence-associated secretory phenotype, autophagy, and apoptosis. Three microRNAs and eleven transcription factors were recognized as potential regulators. Reverse transcription quantitative polymerase chain reaction confirmed the downregulation of DNA damage response genes in asthma and revealed distinct expression patterns across different asthma endotypes.ConclusionSix DNA damage response-related genes may serve as diagnostic biomarkers for asthma, and the transcription factor-microRNA-DNA damage response gene network highlights the role of DNA damage response in asthmatic inflammation.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251332204"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of preoperative complement-dependent cytotoxicity crossmatch on postoperative outcomes in kidney transplant recipients: A retrospective analysis. 术前补体依赖性细胞毒性交叉配伍对肾移植受者术后预后的影响:回顾性分析。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-27 DOI: 10.1177/03000605251332762
Chonghe Xu, Siqi Xie, Meiyi Lu, Wei Xu, Mei Zhu
{"title":"Impact of preoperative complement-dependent cytotoxicity crossmatch on postoperative outcomes in kidney transplant recipients: A retrospective analysis.","authors":"Chonghe Xu, Siqi Xie, Meiyi Lu, Wei Xu, Mei Zhu","doi":"10.1177/03000605251332762","DOIUrl":"https://doi.org/10.1177/03000605251332762","url":null,"abstract":"<p><p>ObjectivesThe aim of the present study was to compare the differences in clinical outcomes within 6 months postoperatively between a complement-dependent cytotoxicity <10% group of low-risk kidney transplant patients and a complement-dependent cytotoxicity ≥10% group of relatively high-risk patients.MethodsThe clinical data of 330 patients who underwent kidney transplantation were retrospectively analyzed. The patients were divided into three groups according to the results of complement-dependent cytotoxicity crossmatch: (a) group 1 (complement-dependent cytotoxicity ≥10%); (b) group 2a (5% ≤ complement-dependent cytotoxicity < 10%); and (c) group 2b (complement-dependent cytotoxicity <5%). The clinical outcomes were compared between the three groups.ResultsSignificant differences were noted in serum creatinine levels and estimated glomerular filtration rate between groups 2a and 2b on days (D) 1, 2, 3, and 7 (P < 0.005). From postoperative D1 to month (M) 6, a significant difference (P < 0.05) was noted in urea levels between the three groups. On D3, blood glucose levels were significantly lower in group 2b than in group 2a (P < 0.001); at M6, group 2b exhibited lower blood glucose levels than group 1 (P = 0.043). On D2, group 2b had a lower neutrophil percentage than group 1 (P < 0.05), which was significantly different from those of groups 1 and 2a on D3 (P < 0.05). The percentage and absolute number of lymphocytes in group 2b were significantly higher than those in group 1 (P < 0.01) on D1 and D2. The percentage and absolute number of lymphocytes were significantly higher in group 2b than in groups 1 and 2a on D3 and D7 (P < 0.05).ConclusionsComplement-dependent cytotoxicity <10%, particularly complement-dependent cytotoxicity <5%, was associated with superior attributes compared with complement-dependent cytotoxicity ≥10% in terms of most aspects of postoperative recovery and low incidence of adverse events. However, delayed graft function rate was highest in the complement-dependent cytotoxicity of 5%-10% group. The source of donor kidneys was the most important factor influencing delayed graft function, and a larger cohort with a longer follow-up period may be needed to verify the tendency.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251332762"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of the 13-valent pneumococcal vaccine on Streptococcus pneumoniae serotypes and antibiotic susceptibility in children. 13价肺炎球菌疫苗对儿童肺炎链球菌血清型及抗生素敏感性的影响
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-30 DOI: 10.1177/03000605251336064
Zhang Shengxin, Yuan Lin, Chen Lei, Zhang Yan, Liu Huaying, Lou Qing
{"title":"Impact of the 13-valent pneumococcal vaccine on <i>Streptococcus pneumoniae</i> serotypes and antibiotic susceptibility in children.","authors":"Zhang Shengxin, Yuan Lin, Chen Lei, Zhang Yan, Liu Huaying, Lou Qing","doi":"10.1177/03000605251336064","DOIUrl":"https://doi.org/10.1177/03000605251336064","url":null,"abstract":"<p><p>ObjectiveTo examine the impact of the 13-valent pneumococcal vaccine on <i>Streptococcus pneumoniae</i> serotypes and antibiotic susceptibility in children to inform the prevention and treatment of <i>S. pneumoniae</i> infections.MethodsWe analyzed and compared <i>S. pneumoniae</i> serotypes and antibiotic susceptibility between children vaccinated with 13-valent pneumococcal vaccine (vaccinated group) and unvaccinated children (control group).ResultsWe collected 167 <i>S. pneumoniae</i> strains that met the study requirements from 60 children (35.92%) in the vaccinated group and 107 (64.08%) children in the control group. The antibiotic susceptibility test revealed no significant difference in susceptibility to oral penicillin (a β-lactam) or penicillin injection between the two groups. Of the third-generation cephalosporins, susceptibility to ceftriaxone and cefotaxime differed significantly among children with meningitis between the two groups (<i>P</i> < 0.05) but not among children without meningitis. In total, 167 strains were susceptible to vancomycin. Neither of the groups were susceptible to erythromycin.ConclusionsThe majority of the <i>S. pneumoniae</i> serotypes isolated from children in Xiamen were covered by the 13-valent pneumococcal vaccine. The isolated <i>S. pneumoniae</i> strains were highly resistant to erythromycin and tetracycline but remained susceptible to vancomycin. Children vaccinated with the 13-valent pneumococcal vaccine may benefit from parenteral third-generation cephalosporins after developing pneumococcal meningitis.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251336064"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Renal artery rupture with lethal outcome in a patient with neurofibromatosis type 1: Case report and review of literature. 1型神经纤维瘤病患者肾动脉破裂致死亡:病例报告及文献复习。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-29 DOI: 10.1177/03000605251335853
Jisun Lee, Yook Kim
{"title":"Renal artery rupture with lethal outcome in a patient with neurofibromatosis type 1: Case report and review of literature.","authors":"Jisun Lee, Yook Kim","doi":"10.1177/03000605251335853","DOIUrl":"https://doi.org/10.1177/03000605251335853","url":null,"abstract":"<p><p>Neurofibromatosis type 1 is an autosomal dominant disorder. The vasculopathy of neurofibromatosis type 1 may rarely comprise stenosis, occlusion, aneurysm, pseudoaneurysm, and arteriovenous deformity, and it often presents as rupture of an undiagnosed lesion, which highly increases mortality in young patients with neurofibromatosis type 1. A female patient in her early 30s who had neurofibromatosis type 1 presented to our hospital with extensive and progressive bleeding of a ruptured renal artery pseudoaneurysm caused by trauma. Complete total embolization of the renal artery was performed using several microcoils and a mixture of n-butyl cyanoacrylate and iodized oil. Despite combined endovascular and surgical management tailored to the patient's condition, she died from uncontrolled bleeding. Endovascular treatment is widely regarded as a safe and less invasive option for managing vascular complications in neurofibromatosis type 1. However, it may be insufficient in rapidly progressive cases. Considering the vascular fragility and recurrence of hemorrhagic shock, earlier surgical intervention, including nephrectomy, should have been more strongly considered. This case highlights the limitations of repeated endovascular management alone and suggests that prompt surgical exploration is warranted when pseudoaneurysm rupture is suspected, even in seemingly stable patients. Ultimately, this case underscores the need for heightened clinical vigilance and early surgical decision-making in the treatment of neurofibromatosis type 1 and rapidly evolving vascular injuries.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251335853"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12041696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Isolated neurological symptoms of Wilson's disease manifesting as focal epileptic seizures without hepatic involvement: Insights from a case report. 威尔逊氏病的孤立神经症状表现为局灶性癫痫发作而不累及肝脏:来自病例报告的见解。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-11 DOI: 10.1177/03000605251328574
Ayham Qatza, Ahmad Almohamed, Rima Alassaad, Saja Karaja, Ghina Hamsho, Ghiath Alassad
{"title":"Isolated neurological symptoms of Wilson's disease manifesting as focal epileptic seizures without hepatic involvement: Insights from a case report.","authors":"Ayham Qatza, Ahmad Almohamed, Rima Alassaad, Saja Karaja, Ghina Hamsho, Ghiath Alassad","doi":"10.1177/03000605251328574","DOIUrl":"https://doi.org/10.1177/03000605251328574","url":null,"abstract":"<p><p>Patients with Wilson's disease, an autosomal recessive disorder caused by <i>ATP7B</i> mutations, present with hepatic and neurological symptoms, including tremors, chorea, personality changes, and rare manifestations such as neuropathy, autonomic dysfunction, headache, and epilepsy. This report describes the case of a 14-year-old man born to consanguineous parents who presented with focal seizures and oromandibular dystonia. A neurological exam revealed left upper limb hypotonia. An electroencephalogram showed right hemisphere epileptiform activity, and magnetic resonance imaging indicated bilateral basal ganglia hyperintensities. An ophthalmological exam revealed an incomplete Kayser-Fleischer ring. Laboratory tests confirmed Wilson's disease with low serum ceruloplasmin (3 mg/dL) and elevated urinary copper excretion (1226 mcg/24 h) levels. Treatment included penicillamine (250 mg/day) and zinc (50 mg bi-daily), along with clonazepam for seizures. Routine follow-ups were recommended. This case highlights the importance of recognizing neurological presentations in patients with Wilson's disease for timely diagnosis and management.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251328574"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alpha-fetoprotein and carbohydrate antigen 19-9 as prognostic biomarkers in acute liver failure: A retrospective study. 甲胎蛋白和碳水化合物抗原19-9作为急性肝衰竭预后的生物标志物:一项回顾性研究。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-30 DOI: 10.1177/03000605251332808
Rui Qi, Xin Wang, Zhidan Kuang, Xueyi Shang, Fang Lin, Dan Chang, Jinsong Mu
{"title":"Alpha-fetoprotein and carbohydrate antigen 19-9 as prognostic biomarkers in acute liver failure: A retrospective study.","authors":"Rui Qi, Xin Wang, Zhidan Kuang, Xueyi Shang, Fang Lin, Dan Chang, Jinsong Mu","doi":"10.1177/03000605251332808","DOIUrl":"https://doi.org/10.1177/03000605251332808","url":null,"abstract":"<p><p>ObjectiveTo investigate the clinical significance of alpha-fetoprotein and carbohydrate antigen 19-9 as potential predictors of outcomes in patients with acute liver failure.MethodsWe conducted a retrospective analysis of 208 patients with acute liver failure admitted to the intensive care unit between 2009 and 2023. Serum alpha-fetoprotein and carbohydrate antigen 19-9 levels were measured on Days 1 and 3, and their prognostic value was evaluated using logistic regression and receiver operating characteristic curve analyses. Patients were stratified by etiologies to assess biomarker performance across different causes of acute liver failure.ResultsNonsurvivors had significantly lower alpha-fetoprotein levels and higher carbohydrate antigen 19-9 levels than survivors on Days 1 and 3 (all <i>p </i><<i> </i>0.05). Alpha-fetoprotein levels increased over time in both groups, whereas carbohydrate antigen 19-9 levels increased in nonsurvivors and decreased in survivors. The combination of carbohydrate antigen 19-9 with the Model for End-Stage Liver Disease score significantly improved prognostic accuracy, with an area under the curve value of 0.828, compared with 0.784 for alpha-fetoprotein combined with Model for End-Stage Liver Disease score. Etiology-specific analysis revealed that carbohydrate antigen 19-9 showed the best predictive performance in acetaminophen-induced acute liver failure (area under the curve value = 0.885), whereas alpha-fetoprotein showed better predictive performance in viral hepatitis-associated acute liver failure (area under the curve value = 0.880).ConclusionsAlpha-fetoprotein is a protective prognostic factor, whereas carbohydrate antigen 19-9 enhances outcome prediction, particularly when combined with Model for End-Stage Liver Disease score. Etiology-specific biomarker performance supports tailored prognostic approaches in the management of acute liver failure.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251332808"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IgA nephropathy, non-cirrhotic portal fibrosis, and POEMS syndrome: A rare combination in the long-term follow-up of Sjögren's syndrome. IgA肾病、非肝硬化门脉纤维化和POEMS综合征:Sjögren综合征长期随访中一种罕见的组合。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-30 DOI: 10.1177/03000605251332903
Xiuhong Wang, Lina Zhang, Tong Zhang, Bozhi Lin, Jing Xu, Meixiang Zhang, Zhicheng Liu
{"title":"IgA nephropathy, non-cirrhotic portal fibrosis, and POEMS syndrome: A rare combination in the long-term follow-up of Sjögren's syndrome.","authors":"Xiuhong Wang, Lina Zhang, Tong Zhang, Bozhi Lin, Jing Xu, Meixiang Zhang, Zhicheng Liu","doi":"10.1177/03000605251332903","DOIUrl":"https://doi.org/10.1177/03000605251332903","url":null,"abstract":"<p><p>Sjögren's syndrome is a heterogeneous autoimmune disorder that may be associated with systemic manifestations involving multiple organs. We herein reported a rare combination of immunoglobulin A nephropathy; non-cirrhotic portal fibrosis; and polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes (POEMS) syndrome in a 15-year follow-up of a female patient initially diagnosed with Sjögren's syndrome. The patient had excessive lymphoproliferation featured by lymphadenopathy and hyperglobulinemia. The diagnoses of immunoglobulin A nephropathy and non-cirrhotic portal fibrosis were confirmed by renal and liver biopsies. She received prolonged corticosteroids and immunosuppressive drugs, which improved immunoglobulin A nephropathy but did not hinder the progression of portal fibrosis, leading to intractable variceal bleeding. The patient died of repeated hematemesis despite endoscopic variceal ligation. Valuable pathological information of multi-organ involvement as well as detailed clinical course were presented to facilitate further understanding of this rare entity. Excessive lymphoproliferation might play an important role in the progression of systemic complications in Sjögren's syndrome, which requires prolonged immunosuppression and organ-specific treatment.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251332903"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Machine learning analysis of FOSL2 and RHoBTB1 as central immunological regulators in knee osteoarthritis synovium. FOSL2和RHoBTB1作为膝骨关节炎滑膜中枢免疫调节因子的机器学习分析。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-27 DOI: 10.1177/03000605251333646
Kun Gao, Zhenyu Huang, Zhouwei Liao, Yanfei Wang, Dayu Chen
{"title":"Machine learning analysis of FOSL2 and RHoBTB1 as central immunological regulators in knee osteoarthritis synovium.","authors":"Kun Gao, Zhenyu Huang, Zhouwei Liao, Yanfei Wang, Dayu Chen","doi":"10.1177/03000605251333646","DOIUrl":"https://doi.org/10.1177/03000605251333646","url":null,"abstract":"<p><p>BackgroundKnee osteoarthritis is a debilitating disease with a complex pathogenesis. Synovitis, which refers to inflammation of the synovial membrane surrounding the joint, is believed to play an important role in the development and progression of knee osteoarthritis. To better understand the molecular mechanisms underlying knee osteoarthritis, we conducted a comprehensive analysis of gene expression in knee osteoarthritis synovium using machine learning.MethodsDifferentially expressed genes between knee osteoarthritis and control synovial tissues were analyzed using the GSE55235 dataset. We employed several machine learning algorithms, including least absolute shrinkage and selection operator and support vector machine-recursive feature elimination, to screen for key genes. Then, we validated the key genes using an external dataset (GSE51588) and an in vitro knee osteoarthritis animal model. CIBERSORT was used to compare immune cell infiltration levels between knee osteoarthritis and control synovial tissues and determine their relationship with the key genes. Finally, we performed a Connectivity Map analysis to screen for potential small-molecule compounds. Moreover, we conducted single-cell RNA sequencing analysis using knee joint tissues to annotate different subtypes of cells.ResultsA total of 930 differentially expressed genes were identified. Least absolute shrinkage and selection operator regression and support vector machine-recursive feature elimination identified <i>FOSL2</i> and <i>RHoBTB1</i> as key genes. The expression levels of both genes were further validated in the GSE51588 dataset as well as verified through an in vitro experiment involving a knee osteoarthritis mouse model. Multiple significant correlation pairs were found between the immune cell infiltration levels. We unveiled the genetic basis of knee osteoarthritis using genome-wide association study and specific signaling pathways through gene set enrichment analysis. The GeneCards database was used to obtain 3032 pathogenic genes associated with knee osteoarthritis, and we found that <i>RHoBTB1</i> expression was significantly negatively correlated and <i>FOSL2</i> expression was significantly positively correlated with interleukin-1β expression. We predicted several small-molecule compounds based on Connectivity Map analysis. Finally, single-cell RNA sequencing analysis revealed the expression levels of the two key genes in chondrocytes and tissue stem cells.Conclusion<i>FOSL2</i> and <i>RHoBTB1</i> may play key roles in the pathogenesis of knee osteoarthritis, exhibiting correlations with immune cell infiltration levels. These findings indicate that these genes have potential as therapeutic targets. However, further research and validation are necessary to confirm their exact roles and therapeutic potential in knee osteoarthritis.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251333646"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Eosinophilic fasciitis following postpartum: A rare case report. 产后嗜酸性筋膜炎1例。
IF 1.4 4区 医学
Journal of International Medical Research Pub Date : 2025-04-01 Epub Date: 2025-04-25 DOI: 10.1177/03000605251332195
Guozheng Zhang, Xingjian Xu, Xiaowei Han, Weitao Huang
{"title":"Eosinophilic fasciitis following postpartum: A rare case report.","authors":"Guozheng Zhang, Xingjian Xu, Xiaowei Han, Weitao Huang","doi":"10.1177/03000605251332195","DOIUrl":"https://doi.org/10.1177/03000605251332195","url":null,"abstract":"<p><p>Eosinophilic fasciitis is a rare connective tissue disease characterized by increased levels of peripheral blood eosinophils and infiltration in the myofascia. The diagnosis of eosinophilic fasciitis is primarily based on clinical manifestations, laboratory tests, and pathological biopsy, with the exclusion of other possible causes of fasciitis and eosinophil increase. Herein, we report a case of postnatal eosinophilic fasciitis occurring in a woman in her 20s, who developed the condition in her right forearm. The patient, who was postpartum, showed considerable recovery after conservative treatment with the corticosteroid prednisone.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 4","pages":"3000605251332195"},"PeriodicalIF":1.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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