QJM: An International Journal of Medicine最新文献

{"title":"Mitochondrial DNA mutations as a potential modifier for the clinical variability of marfan syndrome.","authors":"Yuduo Wu, Xu Zhang, Zhengyang Zhang, Peng An, Yihua He, Hongjia Zhang, Yongting Luo, Junjie Luo","doi":"10.1093/qjmed/hcaf188","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf188","url":null,"abstract":"<p><p>Marfan syndrome (MFS) is an autosomal genetic disease caused by FBN1 mutation. Patients with the same FBN1 mutation type exhibit different phenotypes, which indicates additional risk factors. Mitochondrial dysfunction was observed in the aorta of both MFS patients and Marfan murine models. Single nucleotide variants in mitochondrial DNA (mtDNA) may have harmful consequences on a cell. However, the association of mtDNA mutations with MFS has been unclear. Here, we used targeted mtDNA sequencing to detect whole blood mtDNA mutations from 48 healthy controls and 77 MFS patients, including 7 mother-offspring pedigrees. Three rare mtDNA mutations, m.279T > C, m.2361G > A, and m.3316G > A, were identified in a family whose predominant phenotype was eye lesions. The MFS patients with these mutations had more severe symptoms than family members without the mutation. m.9738G > A was identified in a family whose dominant phenotype was aortic manifestation. A sporadic case with this rare mutation site has an aortic aneurysm. We also described the mutation frequency and mutation rate in MFS. The frequency of all solid variants, nonsynonymous variants, pathogenic or likely pathogenic variants and variants of uncertain significance were more abundant in MFS patients compared to the control group. The mutation rate of the coding region, MT-rRNA and MT-tRNA were higher in the MFS group. These data demonstrate frequent mitochondrial mutation in MFS and suggest that the mtDNA mutation might be a potential modifier of MFS phenotypes.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extreme Gradient Boosting-based Explainable Machine Learning Model for Predicting Significant Fibrosis in Autoimmune Hepatitis.","authors":"Zhiyi Zhang, Jing Wu, Jian Wang, Yun Chen, Renling Yao, Li Zhu, Yiguang Li, Shaoqiu Zhang, Yifan Pan, Fei Cao, Yuanyuan Li, Jiacheng Liu, Yuxin Chen, Shengxia Yin, Xin Tong, Qun Zhang, Xinrong Zhang, Yuanwang Qiu, Chuanwu Zhu, Huali Wang, Chao Wu, Rui Huang","doi":"10.1093/qjmed/hcaf215","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf215","url":null,"abstract":"<p><strong>Background: </strong>Accurate assessment of liver fibrosis is crucial for patients with autoimmune hepatitis (AIH).</p><p><strong>Aim: </strong>We developed and validated a non-invasive explainable machine-learning model for the prediction of liver fibrosis in patients with AIH.</p><p><strong>Design: </strong>A retrospective multi-center study of AIH patients with liver biopsy was conducted.</p><p><strong>Methods: </strong>Patients were randomly divided into a training set and a test set. Nine machine learning (ML) models were built, including logistic regression, k-nearest neighbors, Support vector machine, random forest, extreme gradient boosting (XGBoost), gradient boosting, Adaboost, decision tree, and Gaussian naive bayes. The best model was compared with aminotransferase to platelet ratio index (APRI) and fibrosis index based on 4 factors (FIB-4) on the test set by area under receiver operating characteristic curves (AUC). SHapley Additive exPlanation (SHAP) analysis and local interpretable model-agnostic explanations (LIME) were used for model explanation.</p><p><strong>Results: </strong>A total of 261 AIH patients with a median age of 54.0 (IQR: 47.0, 62.0) years and 82.8% of female sex were included. Among nine ML models, the XGBoost model exhibited superior predictive performance. The model achieved an AUC of 0.791 (95% confidence interval [CI]: 0.668-0.890) in the test set which was higher than APRI (AUC: 0.557, 95% CI: 0.380-0.732, P < 0.001) and FIB-4 (AUC: 0.625, 95% CI: 0.452-0.789, P < 0.001). SHAP and LIME analysis revealed that platelet was the most important predictive variable of significant liver fibrosis.</p><p><strong>Conclusions: </strong>The non-invasive interpretable XGBoost model surpasses APRI and FIB-4 for predicting significant liver fibrosis, contributing to better management of AIH patients.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unmasking Loeys-Dietz Syndrome: The Clinical Significance of a Bifid Uvula.","authors":"Saurabh Kumar Singh, Shilpi Rani, Shrividya Rao, Akkineni Krishna Prasad, Devesh Kumar","doi":"10.1093/qjmed/hcaf217","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf217","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Tuberculosis Following Disseminated TB in Pregnancy: A Case Report.","authors":"J Allen, M Abdelrahman, A Muresan, R Sugrue, L Dolan, M Fitzgibbon, J Keane, A McLaughlin","doi":"10.1093/qjmed/hcaf213","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf213","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-excited Atrial Fibrillation in Wolff-Parkinson-White Syndrome.","authors":"Samuel Chin Wei Tan, Zhen-Hua Liang, Yun-Tao Zhao","doi":"10.1093/qjmed/hcaf214","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf214","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phosphoglycerate kinase 1 as a Potential Biomarker and Therapeutic Target for Diabetic Sarcopenia.","authors":"Fangyu Li, Qingsheng Wang, Rui Li, Yuanyuan Gao, Ying Wang, Qi Chen","doi":"10.1093/qjmed/hcaf212","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf212","url":null,"abstract":"<p><strong>Background: </strong>Sarcopenia is a novel complication of type 2 diabetes mellitus (T2DM), the incidence of which is rapidly increasing. Therefore, early detection and diagnosis of diabetic sarcopenia is important to improve the quality of life of patients.</p><p><strong>Methods: </strong>Differentially expressed genes (DEGs) were identified from GEO datasets GSE76895 and GSE1428. GO and KEGG pathway analyses were conducted using DAVID and KOBAS. Hub gene of metabolic pathways were validated using gene expression and ROC curves. Hub gene expression was then validated in mouse models and human populations, and therapeutic potential was assessed.</p><p><strong>Results: </strong>The metabolic pathway is an important pathophysiological feature of T2DM and sarcopenia, with 17 genes co-enriched in this pathway. We focused on the PGK1, stained by immunofluorescence and western blot analysis revealed significantly lower expression of PGK1 in pancreatic islets and skeletal muscles of T2DM mice, with a negative correlation with the diabetic cycle. Similarly, serum levels of PGK1 were lower in T2DM patients than in healthy individuals. Overexpression of PGK1 alleviates metabolic stress and improves skeletal muscle function in diabetic sarcopenia, highlighting its potential as a therapeutic target.</p><p><strong>Conclusion: </strong>These results suggest that PGK1 may serve as a novel biomarker and potential target for diabetic sarcopenia.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telomeropathy: an often overlooked but unifying diagnosis.","authors":"Matthew Coalter, Hugo C Temperley, Ruairi J Fahy, Catherine Flynn, Michelle Lavin","doi":"10.1093/qjmed/hcaf211","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf211","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing the Effect of Acupuncture, Sham Acupuncture, and Waiting-List Control on Patients with Post-stroke Cognitive Impairment: A Randomized Clinical Trial.","authors":"Xiaolin Chen, Lili Zhang, Wenhui Mao, Jian Wen, Yuting Wang, Kaixuan Ma, Xi Nan, Xiayu Li, Hui Yang, Wei Liu, Xiaochan Tan, Lingling Luo, Geshu Du, He Bu, Yanhong Wang, Yuzheng Du","doi":"10.1093/qjmed/hcaf181","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf181","url":null,"abstract":"<p><strong>Background: </strong>There remains no global consensus on the use of acupuncture therapy in post-stroke cognitive impairment (PSCI), particularly in large sample multi-center RCTs.</p><p><strong>Aim: </strong>To determine whether acupuncture can enhance cognitive function in PSCI.</p><p><strong>Design and methods: </strong>This RCT was conducted from December 2019 to February 2024. A total of 360 participants were recruited and randomly assigned to manual acupuncture (MA), sham acupuncture (SA), or waiting-list control (WC) groups in a 1:1:1 ratio. This study utilized centralized randomization with allocation concealment by Minimpy software and was executed in five hospitals located in Tianjin, Changchun, Changsha, Baotou, and Changzhi, China. The MA group underwent 36 acupuncture sessions for 12 weeks. Participants were observed for a further 24 weeks without any intervention. The primary outcome was measured by MoCA scale. Secondary outcomes were evaluated by MMSE, CDR, NPI, FAQ, WHOQOL-BREF, and Aβ-42. Statistical analysis was conducted by t-tests, the Kruskal-Wallis test, one-way ANOVA, and linear mixed-effects model.</p><p><strong>Results and conclusion: </strong>307 of the 360 patients were analyzed. The MA group showed significant improvement in MoCA scores compared to the SA and WC groups, with increases of 2.21 [95% CI, 1.28 to 3.13; P < 0.001] and 2.76 [95% CI, 1.74 to 3.77; P < 0.001] at week 36. The results derived from the MMSE, CDR, NPI, FAQ, and WHOQOL-BREF indicate that acupuncture therapy may enhance cognitive function and overall quality of life, although it does not appear to affect Aβ-42 levels when contrasting the MA group with the SA or WC groups. Acupuncture therapy could significantly improve cognitive function in adults with PSCI.</p><p><strong>Trial registration: </strong>Chinese Clinical Trial Registry: ChiCTR2000033801.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Traditional Chinese medicine versus flunarizine for the preventive treatment of episodic migraine: a randomized controlled clinical trial.","authors":"Lu Liu, Qiuyi Chen, Luopeng Zhao, Tianli Lyu, Limin Nie, Quan Miao, Yuhan Liu, Libin Zheng, Feiyu Fu, Yuxi Luo, Chenxi Zeng, Chengcheng Zhang, Peiyue Peng, Yixin Zhang, Yong Fu, Yonglie Zhao, Hongzhi Qiao, Xue Wu, Bin Li","doi":"10.1093/qjmed/hcaf210","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf210","url":null,"abstract":"<p><strong>Background: </strong>The prophylactic effects of traditional Chinese medicine (TCM) for migraine without aura are uncertain.</p><p><strong>Aim: </strong>This study aimed to evaluate the efficacy and safety of TCM compared with flunarizine as a prophylactic treatment for episodic migraine in adults.</p><p><strong>Design and methods: </strong>In this randomized clinical trial (4-week treatment and 12-week follow-up), participants were allocated in a 1:1 ratio to receive either TCM (acupuncture: three sessions/week; Chinese herbal medicine: two packets per day) or flunarizine (10 mg per day). The primary outcome was the mean change from baseline in monthly migraine days (MMDs) during weeks 1-4.</p><p><strong>Results and conclusion: </strong>Of 343 patients screened, with 212 (mean age, 46.1 [SD 8.9] years; 162 [76.4%] female) were included in the intention-to-treat analyses. Baseline characteristics were cpmparable between groups. The TCM group demonstrated a significantly greater reduction in MMDs than the flunarizine group during both weeks 1-4 and weeks 5-16, with a difference of -0.64 days (95% CI: -1.07 to -0.20; P = 0.004) during weeks 1-4. and -1.13 days (95% CI: -1.48 to -0.78; P < 0.001) during weeks 5-16. These findings indicate that TCM is effective in preventing episodic migraine, with superior efficacy to flunarizine after 4 weeks of treatment, and sustained benefits for 16 weeks. TCM may therefore be considered an optional preventive therapy for episodic migraine without aura. These results support its use in patients unwilling to take, or unresponsive to, prophylactic drugs, and suggest its consideration in future clinical guidelines.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"H capsulatum in the peripheral blood in disseminated histoplasmosis.","authors":"Oscar M P Jolobe","doi":"10.1093/qjmed/hcaf208","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf208","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":6.4,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}