World journal of radiology最新文献

{"title":"Common cystic pancreatic neoplasms: A comprehensive magnetic resonance imaging-based review of typical and atypical imaging features.","authors":"Piero Boraschi, Rosa Cervelli, Francescamaria Donati","doi":"10.4329/wjr.120526","DOIUrl":"10.4329/wjr.120526","url":null,"abstract":"<p><p>Pancreatic cystic neoplasms are being identified with increasing frequency, largely because high-resolution cross-sectional imaging is now routinely performed in a wide variety of clinical settings. Among available imaging techniques, magnetic resonance imaging (MRI), especially when combined with magnetic resonance cholangiopancreatography, plays a central role in lesion characterization thanks to its excellent soft-tissue contrast and detailed evaluation of the pancreatic ductal system. The most common pancreatic cystic neoplasms include intraductal papillary mucinous neoplasms, serous cystic neoplasms, mucinous cystic neoplasms, and solid pseudopapillary neoplasms, which together account for the majority of cystic pancreatic tumors. Many of these lesions are detected incidentally during imaging examinations performed for unrelated indications, creating an increasingly common diagnostic challenge in routine radiological practice. This review summarizes both typical and atypical MRI findings of the most common cystic pancreatic neoplasms, with particular attention to imaging features that may support differential diagnosis and influence clinical management. In particular, MRI and magnetic resonance cholangiopancreatography are essential for evaluating lesion morphology, intracystic components, and communication with the pancreatic ductal system, all of which are important for lesion characterization and risk stratification. Familiarity with the broad spectrum of MRI appearances is crucial for radiologists in order to improve diagnostic accuracy, recognize atypical presentations, and guide appropriate patient management.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 7","pages":"120526"},"PeriodicalIF":1.2,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13419483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Portal vein embolization for arterio-portal shunt closure in hepatocellular carcinoma to facilitate selective internal radiation therapy.","authors":"Xue Liu, Jin-Yan Zhao, Zhen-Yuan Xu, Shu-Qun Shen, Zhi-Jia Xu, Ye-Fa Yang, Nai-Jian Ge, Xiang-Dong Wang","doi":"10.4329/wjr.121348","DOIUrl":"10.4329/wjr.121348","url":null,"abstract":"<p><strong>Background: </strong>Selective internal radiation therapy (SIRT) has been widely used in the treatment of hepatocellular carcinoma (HCC). However, marked intrahepatic shunt (IHS) secondary to arterio-portal shunt (APS) often precludes safe SIRT administration.</p><p><strong>Aim: </strong>To evaluate the efficacy and safety of portal vein embolization (PVE) in reducing IHS and enabling SIRT therapy in HCC patients with APS.</p><p><strong>Methods: </strong>This retrospective study enrolled seven HCC patients with APS confirmed by hepatic angiography during mapping. PVE was performed to close the APS outlet and single photon emission computed tomography/computed tomography was performed to determine the distribution of (99m) technetium-labeled macroaggregated albumin. These patients meeting the criteria for SIRT subsequently underwent Yttrium-90 (Y-90) resin microspheres administration. Changes in liver function and complications were monitored during the 6-month follow-up period.</p><p><strong>Results: </strong>Complete APS occlusion was achieved in six patients (<i>n</i> = 6, 6/7). The hepatopulmonary shunt rate was below 20% (4.65%-16.95%) in five of six patients with APS occluded, and Y-90-SIRT was subsequently administered in these patients. No severe procedural complications occurred.</p><p><strong>Conclusion: </strong>PVE is a safe and effective strategy to reduce IHS in HCC patients with APS, thereby improving eligibility for SIRT.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 7","pages":"121348"},"PeriodicalIF":1.2,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13419540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computed tomography radiomics-based machine learning nomogram for preoperative prediction of glypican-3 expression in hepatocellular carcinoma.","authors":"Zi-Han Zheng, Chun-Hua Wu, Jin-Bo Hu, Jun-Feng Xu, Xin-Yue Zi, Jin-Hui Chen, Qin He, Wen-Ying Dong","doi":"10.4329/wjr.121161","DOIUrl":"10.4329/wjr.121161","url":null,"abstract":"<p><strong>Background: </strong>Hepatocellular carcinoma (HCC) is among the most common and fatal primary liver malignancies. Glypican-3 (GPC3) is a useful biomarker for HCC diagnosis and targeted therapy, but reliable noninvasive approaches for predicting GPC3 expression before surgery remain limited.</p><p><strong>Aim: </strong>To develop and validate a computed tomography (CT)-based radiomics model using machine learning for the preoperative prediction of GPC3 expression in HCC.</p><p><strong>Methods: </strong>This retrospective study included 103 patients with pathologically confirmed HCC who underwent contrast-enhanced CT at two centers between January 2013 and October 2023. Patients were assigned to training (<i>n</i> = 72) and testing (<i>n</i> = 31) sets using a 7:3 stratified random sampling. Regions of interest were manually delineated on non-contrast, arterial, portal venous, and delayed-phase images, followed by radiomic feature extraction. After feature selection, radiomics models were constructed using eight machine learning algorithms. Independent clinical predictors were identified by univariate and multivariate logistic regression and used to construct a clinical model. A combined model was then developed by integrating the optimal radiomics model with the clinical predictors, and a corresponding nomogram was generated. Model performance was evaluated using the area under the curve (AUC), DeLong test, net reclassification improvement, and integrated discrimination improvement. Calibration curves and decision curve analysis were used to assess the clinical utility of the nomogram.</p><p><strong>Results: </strong>Alpha-fetoprotein and total bilirubin were independent clinical predictors of GPC3 expression. After feature selection, 10 radiomic features were retained. Among the radiomics models, the random forest classifier showed the strongest predictive performance, with an AUC of 0.959 in the training set and 0.862 in the testing set. Integration of the radiomics signature with alpha-fetoprotein and total bilirubin further improved model performance, yielding AUCs of 0.979 and 0.948 in the training and testing sets, respectively. In both cohorts, the combined model showed positive reclassification gains, with net reclassification improvement > 0 and integrated discrimination improvement > 0. Calibration curves suggested a better goodness-of-fit for the clinical model. Decision curve analysis indicated that the nomogram derived from the combined model provided greater net clinical benefit across a broad range of threshold probabilities.</p><p><strong>Conclusion: </strong>A nomogram combining a random forest-based CT radiomics model with clinical predictors showed strong performance and potential clinical value for preoperative prediction of GPC3 expression in HCC.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 7","pages":"121161"},"PeriodicalIF":1.2,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13420200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of bicuspid aortic valve-associated aortopathic changes using third-generation dual-source computed tomography.","authors":"Salai Thanihaivel E, Arun Sharma, Mansi Verma, Rajesh Vijayvergiya, Manphool Singhal","doi":"10.4329/wjr.120056","DOIUrl":"10.4329/wjr.120056","url":null,"abstract":"<p><strong>Background: </strong>Bicuspid aortic valve (BAV) affects 0.5%-2% of the population and is associated with progressive aortopathy leading to life-threatening complications. Aortic size index (ASI) adjusts aortic dimensions for body surface area (BSA), potentially improving risk stratification.</p><p><strong>Aim: </strong>To characterise BAV-associated aortopathic changes using third-generation dual-source computed tomography (CT) and to derive a cohort-specific ASI threshold associated with CT-defined ascending aortic dilatation in an Indian population.</p><p><strong>Methods: </strong>This prospective cross-sectional study enrolled 100 BAV patients (age > 18 years) from July 2022 to November 2023. All patients underwent CT aortography using 192-slice third-generation dual-source CT scanner (Somatom Force, Siemens). Aortic measurements were obtained at multiple levels including annulus, sinus of Valsalva, ascending aorta, arch, and descending thoracic aorta. ASI was calculated as maximum ascending aortic diameter divided by BSA. Statistical analysis included receiver operating characteristic curve analysis and correlation coefficients.</p><p><strong>Results: </strong>Mean age was 48.95 ± 13.78 years, with 64% males. Ascending aortic dilatation was present in 87% of patients, with a mean diameter of 42.79 ± 8.69 mm. Mean ASI was 25.13 ± 5.71 mm/m² with 42% having ASI > 25 mm/m² (high-risk category). ASI strongly correlated with ascending aortic diameter (rho = 0.87, <i>P</i> < 0.001). At ASI cutoff ≥ 23.8 mm/m² sensitivity was 84% and specificity 90% for predicting aortic dilatation > 40 mm. The mean measurement difference between CT and echocardiography was 11.72 ± 8.27 mm.</p><p><strong>Conclusion: </strong>In this single-centre cohort of Indian patients with BAVs, an ASI threshold of 23.8 mm/m² was associated with CT-defined ascending aortic dilatation and may serve as a cohort-specific reference for risk stratification. Because ASI is mathematically derived from ascending aortic diameter, this finding should be interpreted as a cohort-specific threshold rather than independent validation of ASI as a predictor. Third-generation dual-source CT yielded larger absolute aortic measurements than transthoracic echocardiography; this difference is likely partly methodological, reflecting non-equivalent measurement sites, measurement conventions, and inherent limitations of 2D echocardiography in BAV.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"120056"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Venous excess doppler ultrasound: What radiologists should know in 2026.","authors":"Chail Shah, Deepak Shah, Abhilash Koratala","doi":"10.4329/wjr.119110","DOIUrl":"10.4329/wjr.119110","url":null,"abstract":"<p><p>Systemic venous congestion is increasingly recognized as a key contributor to organ dysfunction and adverse outcomes, particularly in the cardiorenal and critical care settings. Elevated right-sided cardiac pressures are transmitted retrogradely to the hepatic, splanchnic, and renal venous systems, leading to impaired organ perfusion, increased interstitial pressure, and complications such as acute kidney injury. Conventional clinical markers and biomarkers of congestion lack sensitivity for detecting early or subclinical venous hypertension. In contrast, ultrasound, particularly when incorporating abdominal venous Doppler assessment, enables a more granular, physiologically grounded evaluation of congestion. The venous excess ultrasound (VExUS) score integrates inferior vena cava assessment with hepatic, portal, and intrarenal venous Doppler waveforms to provide a structured framework for grading venous congestion. VExUS has been associated with renal outcomes, and morbidity and mortality in heart failure, and dynamic changes in venous Doppler patterns appear to carry prognostic significance. This review describes the physiologic basis of venous Doppler abnormalities, outlines the components and grading of the VExUS system, and highlights common technical and interpretive pitfalls that affect reliable assessment. Particular emphasis is placed on waveform morphology, electrocardiographic correlation, and optimization of Doppler acquisition. Given that abdominal Doppler studies are frequently performed for indications unrelated to heart failure, radiologists are uniquely positioned to recognize venous congestion on routine imaging. Incorporation of VExUS principles into radiologic reporting, along with standardized acquisition and multidisciplinary education, may enhance the clinical relevance of abdominal and renal vascular examinations and support earlier, physiologically informed hemodynamic intervention. This narrative review synthesizes current evidence, discusses technical and interpretive considerations, and provides practical guidance for radiologists incorporating VExUS into practice.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"119110"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodality imaging considerations for genicular artery embolization in knee osteoarthritis.","authors":"Ramanpreet Singh, Mina S Makary","doi":"10.4329/wjr.120315","DOIUrl":"10.4329/wjr.120315","url":null,"abstract":"<p><p>Genicular artery embolization (GAE) describes a minimally invasive, catheter-directed therapy that targets abnormal hypervascular synovium and periarticular neovessels in patients with symptomatic knee osteoarthritis (OA), particularly those with inflammation-predominant disease who are poor surgical candidates or wish to defer arthroplasty. As clinical adoption expands, pre-, intra-, and post-procedure imaging has become increasingly relevant to both diagnostic and interventional radiologists. In practical terms, inflammation-predominant disease refers to knees with prominent synovitis-related magnetic resonance imaging (MRI) findings despite less advanced irreversible structural destruction, whereas structure-predominant disease is characterized by extensive cartilage loss, large bone marrow lesions, meniscal maceration, and advanced radiographic degeneration. Although no prospectively validated imaging cutoff exists for routine GAE candidate selection, current studies suggest that moderate-to-large effusion-synovitis (the combined appearance of joint fluid and synovial thickening on non-contrast MRI) (grade 2-3), greater overall MRI lesion burden (≥ 4 abnormalities), and extensive full-thickness cartilage loss may help distinguish these phenotypes. Synovial enhancement and effusion-synovitis on MRI are the findings most consistently expected to improve, whereas structural hallmarks of OA often persist and may be misinterpreted as treatment failure. Early marrow or subchondral signal alterations have also been reported after embolization and require cautious follow-up interpretation. This review summarizes contemporary evidence on pre-, intra-, and post-procedure imaging, semiquantitative MRI scoring systems, and common post-GAE interpretive pitfalls.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"120315"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Value of dual energy computed tomography with material decomposition algorithm in assessing intestinal creeping fat in Crohn's disease.","authors":"Li-Wei Dong, Hui-Juan Chen, Chao-Chao Chen, Cheng Lan","doi":"10.4329/wjr.122056","DOIUrl":"10.4329/wjr.122056","url":null,"abstract":"<p><strong>Background: </strong>While next-generation dual-energy computed tomography (DECT) has demonstrated utility for fat quantification in various clinical applications, its potential to characterize intestinal creeping fat (CrF) and to correlate these imaging finding with specific molecular pathways in Crohn's disease (CD) remains poorly studied.</p><p><strong>Aim: </strong>To assess the value of DECT with the material decomposition (MMD) algorithm in quantifying CrF in patients with CD, and to explore the impact of CrF on intestinal inflammation, fibrosis, adipogenesis, and expression of mucosal barrier-related genes.</p><p><strong>Methods: </strong>Patients with active or quiescent CD and healthy controls were included for clinical, endoscopic, and DECT imaging assessments. The MMD algorithm was used to quantify CrF. Inflammatory and fibrotic changes were scored histologically. Expression of tumor necrosis factor-α, transforming growth factor-β, peroxisome proliferator-activated receptor gamma 2, and occludin was measured by immunohistochemistry and quantitative real-time polymerase chain reaction.</p><p><strong>Results: </strong>DECT provided high-quality images and allowed quantification of CrF. CrF volume was significantly higher in active CD patients than in healthy controls (104.67 ± 26.51 <i>vs</i> 17.24 ± 5.16, <i>P</i> < 0.05). In quiescent CD, CrF volume decreased compared with active CD (32.69 ± 11.42 <i>vs</i> 104.67 ± 26.51, <i>P</i> < 0.05) but remained above control levels (<i>P</i> < 0.05). These changes correlated strongly with clinical and pathological indicators, including CDAI (<i>r</i> = 0.927), endoscopic score (<i>r</i> = 0.904), histologic inflammation score (<i>r</i> = 0.917), and fibrosis score (<i>r</i> = 0.932). Furthermore, CrF volume was positively correlated with peroxisome proliferator-activated receptor gamma 2 expression (<i>r</i> = 0.917) and negatively correlated with occludin expression (<i>r</i> = -0.926).</p><p><strong>Conclusion: </strong>DECT with the MMD algorithm can effectively quantify intestinal CrF in CD. The quantified CrF correlates well with clinical, endoscopic, histopathological, and molecular indicators of disease activity and intestinal barrier dysfunction. This approach may serve as a useful noninvasive tool for assessing CD.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"122056"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor: Hemodynamic role in hepatic encephalopathy pathogenesis following transjugular intrahepatic portosystemic shunt placement.","authors":"John Halphen, Yash S Dayal, Cameron Laurie, Mohadese Ahmadzade, David Wynne, Mohammad Ghasemi-Rad","doi":"10.4329/wjr.120177","DOIUrl":"10.4329/wjr.120177","url":null,"abstract":"<p><p>Hepatic encephalopathy (HE) is a common complication following transjugular intrahepatic portosystemic shunt (TIPS) placement and is thought to result from reduced hepatic detoxification of neurotoxins. However, Zhuang <i>et al</i> in the <i>World Journal of Radiology</i> demonstrate that this understanding may be incomplete through exploration of the pathophysiology from a hemodynamic perspective. They found significant changes in cerebral blood flow (CBF) and spontaneous brain activity following TIPS. Initially, CBF increased in specific areas within the first month, followed by a return to baseline at three months. These CBF changes coincided with increased spontaneous brain activity that persisted in some areas, suggesting compensation for functional loss in other regions. Together with the fact that serum ammonia remained unchanged in this cohort and prior work showing that, after three months, HE risk returns to pre-TIPS levels, these results suggest that HE may develop in individuals susceptible to these hemodynamic and adaptive changes, warranting further research.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"120177"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor: Beyond the liver - integrating emerging predictors in hepatic encephalopathy after transjugular intrahepatic portosystemic shunt.","authors":"Cristian Lindner, Andrés Concha, David Clemo","doi":"10.4329/wjr.119600","DOIUrl":"10.4329/wjr.119600","url":null,"abstract":"<p><p>We read with great interest the prospective study by Zhuang <i>et al</i> published in the recent issue of the <i>World Journal of Radiology</i>, regarding the cerebral blood flow changes following transjugular intrahepatic portosystemic shunt creation provides a vital hemodynamic correlate to the pathogenesis of hepatic encephalopathy. However, this letter argues that cerebrovascular alterations should not be interpreted in isolation but rather as the downstream consequence of broader systemic dysregulation. We highlight the critical role of emerging predictors such as sarcopenia, shunt magnitude, and portal vein anatomy, in modulating the neurotoxic burden within the gut-liver-brain axis. By integrating these systemic variables with cerebral hemodynamic metrics, we propose a multidimensional approach to improve risk stratification. This perspective is essential for developing personalized transjugular intrahepatic portosystemic shunt planning strategies that minimize hepatic encephalopathy risk while maintaining shunt efficacy.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"119600"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel <i>PSEN1</i> (<i>Q223 L</i>) mutation causes early-onset Alzheimer's disease: A case report.","authors":"Jie Li, Fen-Li Zhou, Juan-Juan Chen, Zhi-Jian Lin, Xin Shi, Guo-Gao Zhang, Hong-Jie Yang, Meng-Jie Dong, Li Yi, Jun Hu, Xu-Hui Chen","doi":"10.4329/wjr.116652","DOIUrl":"10.4329/wjr.116652","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the <i>PSEN1</i>, <i>PSEN2</i>, and <i>APP</i> genes are known to cause Alzheimer's disease (AD). Among these, <i>PSEN1</i> mutations are the most frequent causes of autosomal dominant early-onset AD (EOAD). Patients harboring pathogenic mutations often exhibit considerable clinical heterogeneity. Identifying novel mutations and analyzing their associations with clinical cases is crucial for advancing our understanding of the pathogenesis of AD.</p><p><strong>Case summary: </strong>This report describes the clinical presentation of a family with EOAD. The proband was a 43-year-old Chinese female who presented with a three-year history of cognitive decline for 3 years. Magnetic resonance imaging demonstrated diffuse cerebral cortical atrophy. Next-generation sequencing identified a novel heterozygous c.668A>T mutation in <i>PSEN1</i>, which resulted in a p.Gln223 Leu. cerebrospinal fluid biomarker analysis revealed abnormal levels of amyloid and tau, indicative of underlying Alzheimer's pathology. Furthermore, ¹⁸F-flortaucipir (AV-1451) positron emission topography and ¹⁸F-florbetapir (AV-45) positron emission topography imaging demonstrated extensive cerebral amyloid beta and tau deposition.</p><p><strong>Conclusion: </strong>We report a novel pathogenic <i>PSEN1</i> mutation, <i>Q223 L</i>, identified for the first time in a Chinese family with EOAD.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"18 6","pages":"116652"},"PeriodicalIF":1.2,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13324751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148377077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}