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QJM: An International Journal of Medicine最新文献

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Tubercular dactylitis/spina ventosa-a rare skeletal form of extrapulmonary tuberculosis. 结核性半身不遂/文胸--肺外结核的一种罕见骨骼形式。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae209
Pradeep Kumar Gunasekaran, Arushi Gahlot Saini, Manish Rohilla
{"title":"Tubercular dactylitis/spina ventosa-a rare skeletal form of extrapulmonary tuberculosis.","authors":"Pradeep Kumar Gunasekaran, Arushi Gahlot Saini, Manish Rohilla","doi":"10.1093/qjmed/hcae209","DOIUrl":"10.1093/qjmed/hcae209","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"280-281"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562809","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}
引用次数: 0
Fluorescent under ordinary blacklight in Microsporum canis infection on the hand. 在普通黑光灯下，手部感染犬疫霉菌时会发出荧光。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae216
Shintaro Kakimoto, Yukinori Harada, Taro Shimizu
{"title":"Fluorescent under ordinary blacklight in Microsporum canis infection on the hand.","authors":"Shintaro Kakimoto, Yukinori Harada, Taro Shimizu","doi":"10.1093/qjmed/hcae216","DOIUrl":"10.1093/qjmed/hcae216","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"286-287"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606125","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}
引用次数: 0
Clinical presentation of combined oxidative phosphorylation deficiency 30 (COXPD30) and mutations in the TRMT10C gene. 氧化磷酸化缺陷30 （oxpd30）与TRMT10C基因突变的临床表现
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae251
Lin Wang, Li He, Bo Zhou, Kexing Li, Xiaoliang Liu
{"title":"Clinical presentation of combined oxidative phosphorylation deficiency 30 (COXPD30) and mutations in the TRMT10C gene.","authors":"Lin Wang, Li He, Bo Zhou, Kexing Li, Xiaoliang Liu","doi":"10.1093/qjmed/hcae251","DOIUrl":"10.1093/qjmed/hcae251","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"294-296"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142922642","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}
引用次数: 0
Advancements in Gene Therapy for Lung Cancer: From Genetic Insights to Clinical Applications. 肺癌基因治疗的进展：从遗传学见解到临床应用。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcaf075
Mohammad Doroudian, Elham Abbasgholinejad, Mahdieh Soezi
{"title":"Advancements in Gene Therapy for Lung Cancer: From Genetic Insights to Clinical Applications.","authors":"Mohammad Doroudian, Elham Abbasgholinejad, Mahdieh Soezi","doi":"10.1093/qjmed/hcaf075","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf075","url":null,"abstract":"<p><p>Gene therapy represents a transformative approach in lung cancer treatment, leveraging strategies such as gene replacement, editing, and silencing to target oncogenes and restore tumor suppressor functions. Techniques like CRISPR/Cas9, RNA interference (RNAi), and viral vectors, including adenoviruses and AAVs, have shown promise in overcoming drug resistance and enhancing immune responses. Nanoparticle-based delivery systems, such as exosomes and liposomes, further improve precision and efficacy in gene delivery. Despite advancements, challenges like off-target effects, immune responses, and tumor heterogeneity persist. Clinical trials, including CAR T-cell therapies and oncolytic viruses, highlight the potential of gene therapy, yet optimizing delivery and minimizing side effects remain critical for future progress. This review underscores the evolving landscape of gene therapy in lung cancer, emphasizing its potential to revolutionize treatment paradigms.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765013","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}
引用次数: 0
Maximizing public healthcare resources in the management of waiting lists post-covid. 在 Covid 之后的候诊名单管理中最大限度地利用公共医疗资源。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae163
A M Tobin, L A Murphy, C O'Neill, G Crealey
{"title":"Maximizing public healthcare resources in the management of waiting lists post-covid.","authors":"A M Tobin, L A Murphy, C O'Neill, G Crealey","doi":"10.1093/qjmed/hcae163","DOIUrl":"10.1093/qjmed/hcae163","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"201-202"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009370","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}
引用次数: 0
Osteogenesis imperfecta as a cause of respiratory failure. 导致呼吸衰竭的成骨不全症。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae205
Masahiro Kashiura, Hiroyuki Tamura, Hideto Yasuda, Takashi Moriya
{"title":"Osteogenesis imperfecta as a cause of respiratory failure.","authors":"Masahiro Kashiura, Hiroyuki Tamura, Hideto Yasuda, Takashi Moriya","doi":"10.1093/qjmed/hcae205","DOIUrl":"10.1093/qjmed/hcae205","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"279"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473297","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}
引用次数: 0
ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling. ALG8-CDG：分子和产前表型研究进展促进产前诊断和遗传咨询。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcaf006
Yanlin Huang, Lihua Yu, Juan Zhu, Yunan Wang, Rui Zhang, Jianhong Chen, Cuiqing Huang, Ling Li, Hongke Ding, Jian Lu, Yan Zhang, Li Du
{"title":"ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.","authors":"Yanlin Huang, Lihua Yu, Juan Zhu, Yunan Wang, Rui Zhang, Jianhong Chen, Cuiqing Huang, Ling Li, Hongke Ding, Jian Lu, Yan Zhang, Li Du","doi":"10.1093/qjmed/hcaf006","DOIUrl":"10.1093/qjmed/hcaf006","url":null,"abstract":"<p><strong>Background: </strong>ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.</p><p><strong>Methods: </strong>We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.</p><p><strong>Results: </strong>Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction. Umbilical cord blood biochemistry demonstrated fetal anemia, coagulation disorders, and abnormal liver and kidney function. Autopsy confirmed fetal hydrops and associated anomalies. A novel compound heterozygous mutation comprising the missense variant c.754T>C (p.Ser252Pro) and a partial exonic deletion (deletion of exons 1-2) in the ALG8 gene was identified in fetus P2.</p><p><strong>Conclusions: </strong>This study represents the first prenatal diagnosis of ALG8-CDG, comprehensively delineating the prenatal phenotypic spectrum. Prenatal ultrasound, umbilical cord blood biochemistry, and placental pathology findings aid in the assessment of prenatal manifestations, invaluable for prenatal diagnosis, genetic counseling, and potential interventions in future patients.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"264-272"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142953990","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}
引用次数: 0
Post-kidney transplantation EBV-related brainstem encephalitis. 肾移植后ebv相关脑干脑炎。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcaf003
Jianzhao Zhai, Huiyu Zhong, Minjin Wang
{"title":"Post-kidney transplantation EBV-related brainstem encephalitis.","authors":"Jianzhao Zhai, Huiyu Zhong, Minjin Wang","doi":"10.1093/qjmed/hcaf003","DOIUrl":"10.1093/qjmed/hcaf003","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"300-302"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142953993","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}
引用次数: 0
Malignant acanthosis nigricans as a dermatological indicator of gastric adenocarcinoma: a case report. 恶性黑棘皮病作为胃腺癌的皮肤病指标：1例报告。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcae252
Yihao Peng, Cheng Zhi Lv, Kai Huang, Shuang Zhao, Mingxin Li
{"title":"Malignant acanthosis nigricans as a dermatological indicator of gastric adenocarcinoma: a case report.","authors":"Yihao Peng, Cheng Zhi Lv, Kai Huang, Shuang Zhao, Mingxin Li","doi":"10.1093/qjmed/hcae252","DOIUrl":"10.1093/qjmed/hcae252","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"297-299"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927962","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}
引用次数: 0
Monoclonal gammopathy of renal significance: overlap of AL amyloidosis and immunotactoid glomerulopathy. 肾脏意义的单克隆伽玛病：AL淀粉样变性和免疫球蛋白样肾小球病的重叠。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-04-01 DOI: 10.1093/qjmed/hcaf026
Takeshi Kashio, Taro Horino, Kenichi Yagyu, Yuki Osakabe, Satoshi Inotani, Yoshio Terada
{"title":"Monoclonal gammopathy of renal significance: overlap of AL amyloidosis and immunotactoid glomerulopathy.","authors":"Takeshi Kashio, Taro Horino, Kenichi Yagyu, Yuki Osakabe, Satoshi Inotani, Yoshio Terada","doi":"10.1093/qjmed/hcaf026","DOIUrl":"10.1093/qjmed/hcaf026","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":"306-307"},"PeriodicalIF":7.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034094","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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