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QJM: An International Journal of Medicine最新文献

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Brachydactylia in acrodysostosis.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-03-04 DOI: 10.1093/qjmed/hcae227
Y-M Li, Y-L Yang, Y-M Qu, L-Y Wang, H-J Ma
{"title":"Brachydactylia in acrodysostosis.","authors":"Y-M Li, Y-L Yang, Y-M Qu, L-Y Wang, H-J Ma","doi":"10.1093/qjmed/hcae227","DOIUrl":"https://doi.org/10.1093/qjmed/hcae227","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557894","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
Disease modifying therapies in heart failure: an update.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-03-01 DOI: 10.1093/qjmed/hcaf060
Atsushi Tanaka, Koichi Node
{"title":"Disease modifying therapies in heart failure: an update.","authors":"Atsushi Tanaka, Koichi Node","doi":"10.1093/qjmed/hcaf060","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf060","url":null,"abstract":"<p><p>There is currently limited evidence-based disease-modifying pharmacotherapy in patients with heart failure and mildly reduced/preserved ejection fraction (HFmrEF/HFpEF), forming an unmet clinical need in contemporary heart failure care. However, according to the finding from recent clinical trials with some medications such as finerenone and glucagon-like peptide-1 receptor agonist, a clinical concept of pharmacological therapy in patients with HFmrEF/HFpEF will be updated and upgraded. Based on recent evidences, we herein aim to discuss the possible roles of those medications in the HFmrEF/HFpEF therapy and propose an emerging pharmacological strategy for this population.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557896","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
A Novel FLNA Variant Causes Spontaneous Coronary Artery Dissection.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-28 DOI: 10.1093/qjmed/hcaf055
Zhuangzhuang Yuan, Jiao Xiao, Yi Dong, Rong Xiang
{"title":"A Novel FLNA Variant Causes Spontaneous Coronary Artery Dissection.","authors":"Zhuangzhuang Yuan, Jiao Xiao, Yi Dong, Rong Xiang","doi":"10.1093/qjmed/hcaf055","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf055","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557842","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
Aortic dissection and other treatable causes of cardiogenic right sided pulmonary oedema. 主动脉夹层和其他可治疗的心源性右侧肺水肿病因。
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-28 DOI: 10.1093/qjmed/hcaf059
Oscar M P Jolobe
{"title":"Aortic dissection and other treatable causes of cardiogenic right sided pulmonary oedema.","authors":"Oscar M P Jolobe","doi":"10.1093/qjmed/hcaf059","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf059","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557891","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
From Blue to Clarity: Unravelling the Mystery of Eccrine Acrospiroma.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-28 DOI: 10.1093/qjmed/hcaf058
Soumiya Ilangovane, Ariharasudhan Varadharajan, Ramamoorthy Logamoorthy, Kaliaperumal Karthikeyan
{"title":"From Blue to Clarity: Unravelling the Mystery of Eccrine Acrospiroma.","authors":"Soumiya Ilangovane, Ariharasudhan Varadharajan, Ramamoorthy Logamoorthy, Kaliaperumal Karthikeyan","doi":"10.1093/qjmed/hcaf058","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf058","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557899","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
Ectopic, intra-thyroid parathyroid adenoma better visualised by deep learning enhanced choline PET/CT.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-24 DOI: 10.1093/qjmed/hcaf057
Kevin M Bradley, Daniel R McGowan, Lee Bartley, David Scott-Coombes, John I Rees
{"title":"Ectopic, intra-thyroid parathyroid adenoma better visualised by deep learning enhanced choline PET/CT.","authors":"Kevin M Bradley, Daniel R McGowan, Lee Bartley, David Scott-Coombes, John I Rees","doi":"10.1093/qjmed/hcaf057","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf057","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483825","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
IgG4 related disease with eosinophil extracellular traps.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-22 DOI: 10.1093/qjmed/hcaf051
Saori Amano, Sho Nishiguchi, Yasuhiro Mochida, Shinichi Teshima, Shigeharu Ueki
{"title":"IgG4 related disease with eosinophil extracellular traps.","authors":"Saori Amano, Sho Nishiguchi, Yasuhiro Mochida, Shinichi Teshima, Shigeharu Ueki","doi":"10.1093/qjmed/hcaf051","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf051","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477093","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
Acute mitral regurgitation diagnosed by right-sided unilateral pulmonary edema.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-21 DOI: 10.1093/qjmed/hcaf054
Shimpei Kajie, Tomohiro Moriya, Tetsuya Kishigami
{"title":"Acute mitral regurgitation diagnosed by right-sided unilateral pulmonary edema.","authors":"Shimpei Kajie, Tomohiro Moriya, Tetsuya Kishigami","doi":"10.1093/qjmed/hcaf054","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf054","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468978","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
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-21 DOI: 10.1093/qjmed/hcaf017
Hongyun Zhang, Jun He, Yanling Teng, Qingxin Shi, Fang Liu, Can Peng, Siyuan Linpeng, Yingdi Liu, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu
{"title":"Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.","authors":"Hongyun Zhang, Jun He, Yanling Teng, Qingxin Shi, Fang Liu, Can Peng, Siyuan Linpeng, Yingdi Liu, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu","doi":"10.1093/qjmed/hcaf017","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf017","url":null,"abstract":"<p><strong>Background: </strong>Current noninvasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) mainly targets the detection of chromosome aberrations but not dominant single-gene disorders (dSGDs).</p><p><strong>Aim: </strong>This prospective pilot study aims to evaluate the clinical utility of a plasma cfDNA and targeted next-generation sequencing-based NIPT approach for dSGDs (NIPT-dSGD), with a particular focus on neurodevelopmental disorders (NDDs).</p><p><strong>Methods: </strong>The NIPT-dSGD method targeted 34 genes, including 25 correlated to NDDs and nine correlated to Noonan spectrum, skeletal, craniosynostosis, and other syndromic disorders. Retrospective samples first validated NIPT-dSGD and then performed for a prospective cohort of 567 pregnant women seeking NIPT-dSGD. The testing results were compared to invasive prenatal or postnatal genetic diagnosis by whole-exome sequencing and Sanger sequencing.</p><p><strong>Results: </strong>Of the 535 samples with qualified NIPT-dSGD analysis, 11 (2.1%) had one pathogenic or likely pathogenic variant in one of the 34 genes. Three of the 11 variants were paternally inherited, and eight were de novo. Five positive cases had normal ultrasound parameters, and three of them had disease-causing variants in NDD genes. Particularly, one family had two pregnancies with de novo variants of two different genes (GRIN2B: c.1606G>A and ARID1B: c.6100A>G). NIPT-dSGD did not generate any false-positive or negative results, achieving 100% of sensitivity (95% CI, 71.7%-100%) and 100% of specificity (95% CI, 99.0%-100%).</p><p><strong>Conclusions: </strong>NIPT-dSGD provides accurate genetic testing for de novo and paternally inherited variants of dominant genes, including those that do not cause any ultrasound abnormalities, which could assist clinicians and families in better pregnancy management.</p>","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468982","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
Sarcoid ichthyosis with tiger-man sign: a new "tigerfish" syndrome in sarcoidosis?
IF 7.3 4区 医学
QJM: An International Journal of Medicine Pub Date : 2025-02-21 DOI: 10.1093/qjmed/hcaf056
Etienne Rivière, Valentine Horiot, Ghoufrane Tlili, Charles Mesguich, Fanny Bletzung, Félix Blaison, Claire Tinevez, Carine Greib, Emmanuel Ribeiro, Estibaliz Lazaro, Jean-François Viallard
{"title":"Sarcoid ichthyosis with tiger-man sign: a new \"tigerfish\" syndrome in sarcoidosis?","authors":"Etienne Rivière, Valentine Horiot, Ghoufrane Tlili, Charles Mesguich, Fanny Bletzung, Félix Blaison, Claire Tinevez, Carine Greib, Emmanuel Ribeiro, Estibaliz Lazaro, Jean-François Viallard","doi":"10.1093/qjmed/hcaf056","DOIUrl":"https://doi.org/10.1093/qjmed/hcaf056","url":null,"abstract":"","PeriodicalId":20806,"journal":{"name":"QJM: An International Journal of Medicine","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468985","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
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