Diagnostics最新文献

{"title":"Brain Stroke Classification Using CT Scans with Transformer-Based Models and Explainable AI.","authors":"Shomukh Qari, Maha A Thafar","doi":"10.3390/diagnostics15192486","DOIUrl":"10.3390/diagnostics15192486","url":null,"abstract":"<p><p><b>Background & Objective:</b> Stroke remains a leading cause of mortality and long-term disability worldwide, demanding rapid and accurate diagnosis to improve patient outcomes. Computed tomography (CT) scans are widely used in emergency settings due to their speed, availability, and cost-effectiveness. This study proposes an artificial intelligence (AI)-based framework for multiclass stroke classification (ischemic, hemorrhagic, and no stroke) using CT scan images from the Ministry of Health of the Republic of Turkey. <b>Methods:</b> We adopted MaxViT, a state-of-the-art Vision Transformer (ViT)-based architecture, as the primary deep learning model for stroke classification. Additional transformer variants, including Vision Transformer (ViT), Transformer-in-Transformer (TNT), and ConvNeXt, were evaluated for comparison. To improve model generalization and handle class imbalance, classical data augmentation techniques were applied. Furthermore, explainable AI (XAI) was integrated using Grad-CAM++ to provide visual insights into model decisions. <b>Results:</b> The MaxViT model with augmentation achieved the highest performance, reaching an accuracy and F1-score of 98.00%, outperforming the baseline Vision Transformer and other evaluated models. Grad-CAM++ visualizations confirmed that the proposed framework effectively identified stroke-related regions, enhancing transparency and clinical trust. <b>Conclusions:</b> This research contributes to the development of a trustworthy AI-assisted diagnostic tool for stroke, facilitating its integration into clinical practice and improving access to timely and optimal stroke diagnosis in emergency departments.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145299118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroimaging Findings and Neurocognitive Features of Patients with Ochoa Syndrome (Urofacial Syndrome)-A Prospective Experimental Study.","authors":"Aykut Akinci, Murat Can Karaburun, Mehmet Fatih Ozkaya, Muhammed Arif Ibis, Tugba Babayigit, Merve Cikili Uytun, Elif Peker, Sena Unal, Seda Kaynak Sahap, Gozde Vatansever, Sertac Ustun, Tarkan Soygur, Berk Burgu","doi":"10.3390/diagnostics15192488","DOIUrl":"10.3390/diagnostics15192488","url":null,"abstract":"<p><p><b>Background/Objectives:</b> To characterize functional brain activation during smiling and to assess cognitive profiles in patients with Ochoa (Urofacial) syndrome (UFS). <b>Materials and Methods:</b> In a block-design fMRI paradigm, participants alternated between imitating a smiling emoji and viewing a fixation cross. Images were preprocessed and analyzed in SPM12; Smile > Rest contrasts were tested with a voxelwise threshold of <i>p</i> < 0.001 (uncorrected). Cognitive levels were assessed using age-appropriate Wechsler scales administered by certified psychologists. <b>Results:</b> Six patients (mean age 20 years; 50% female) with genetically/clinically confirmed UFS were included. Smile > Rest elicited robust activation in the supplementary motor area (highest Z = 4.70), insula (largest cluster), dorsal anterior cingulate, primary motor cortex, and frontal eye fields, among others. Five patients completed cognitive testing; Full-Scale IQ ranged 50-74, consistent with mild intellectual disability to borderline intellectual functioning. <b>Conclusions:</b> During voluntary smiling, UFS patients exhibit activation patterns that overlap extensively with those reported in healthy cohorts. Nevertheless, cognitive performance was limited in this sample. Given the rarity of UFS and the small cohort, findings should be interpreted cautiously and validated in multicenter studies.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145299099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal Epidural Fat as an Imaging Biomarker of Visceral Obesity: An MRI-Based Quantitative Analysis.","authors":"Nicola Marrone, Gabriele Bilancia, Domenico Romeo, Valerio D'Agostino, Federico Ponti, Francesca Salamanna, Amandine Crombé, Paolo Spinnato","doi":"10.3390/diagnostics15192490","DOIUrl":"10.3390/diagnostics15192490","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Spinal epidural lipomatosis (SEL) is increasingly recognized as a possible radiological indicator of Metabolic Syndrome (MS) and visceral adiposity. However, the precise relationship between visceral adiposity and the accumulation of epidural fat (EF) remains unclear. This study aimed to investigate the association between visceral adipose tissue (VAT) and EF thickness using quantitative MRI analyses. <b>Methods</b>: We retrospectively reviewed all MRI scans performed at our institution over a 7-month period, from May to November 2024. Two radiologists measured and recorded the VAT maximum antero-posterior diameter at the L3 level, EF maximum diameter at the L5-S1 level, spinal canal antero-posterior diameter at the L5-S1 level, and subcutaneous fat (SF) when included in the MRI images (at the L3 level) in all the MRI scans. <b>Results</b>: A cohort of 516 patients was collected (320 women and 196 men; mean age 57.31 ± 18.45 years old). In 508 patients (98.4%) SF and VAT were both measurable, while in 8 patients VAT only was assessable on MRI scans. Pearson correlation identified significant associations between EF and VAT thickness (correlation coefficient > 20%; <i>p</i> < 0.05). A linear regression model confirmed a significant, albeit modest, positive relationship between VAT and EF (R² = 5.4%). A multivariate regression model incorporating age, sex, spinal canal size, VAT, and SF improved the explanatory power (adjusted R² = 16.7%), with VAT, spinal canal diameter, and age emerging as significant predictors of EF (<i>p</i> < 0.001). <b>Conclusions</b>: Our study revealed in a large cohort of patients that EF and VAT are directly associated. On the other hand, SF resulted in not being associated with EF. These findings support the emerging concept that SEL can be a radiological phenotype of visceral obesity and, by extension, of MS. Integrating EF measurement into standard MRI interpretation may facilitate the early detection of SEL and offer additional insights into patients' underlying metabolic profile.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Squamous Metaplasia of Lactiferous Ducts (SMOLD) in a Male Patient: Clinical, Dermoscopic, and Histopathological Insights.","authors":"Beata Zagórska, Przemysław Miłosz, Jakub Żółkiewicz, Urszula Maińska, Martyna Sławińska","doi":"10.3390/diagnostics15192489","DOIUrl":"10.3390/diagnostics15192489","url":null,"abstract":"<p><p>We present the case of a 44-year-old male patient who presented to a dermatology outpatient clinic due to an asymmetric swelling of the left nipple. The patient reported a burning sensation within the area, persisting for approximately six months. Due to the inconclusive dermoscopic findings and lack of improvement following empirical treatment, a biopsy was performed. Histopathological examination revealed keratinizing squamous metaplasia of the lactiferous ducts (SMOLD).</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12524041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generational Leaps in Intrapartum Fetal Surveillance.","authors":"Lawrence D Devoe","doi":"10.3390/diagnostics15192482","DOIUrl":"10.3390/diagnostics15192482","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Electronic fetal monitoring (EFM) has been used for intrapartum fetal surveillance for over 50 years. Despite numerous trials comparing EFM with standard fetal heart rate (FHR) auscultation, it remains contentious whether continuous monitoring with standard interpretation has reliably improved perinatal outcomes, specifically lower rates of perinatal morbidity and mortality. This review examines previous attempts to improve fetal monitoring and presents future directions for novel intrapartum fetal surveillance systems. <b>Methods:</b> We conducted a chronological review of EFM developments, including ancillary methods such as fetal ECG analysis, automated systems for FHR analysis, and artificial intelligence applications. We analyzed the evolution from visual interpretation to intelligent systems and evaluated the performance of various automated monitoring platforms. <b>Results:</b> Various ancillary methods developed to improve EFM accuracy for predicting fetal compromise have shown limited success. Only a limited number of studies demonstrated that adding fetal ECG analysis to visual FHR pattern interpretation resulted in better fetal outcomes. Automated systems for FHR analysis have not consistently enhanced intrapartum fetal surveillance. However, novel approaches such as the Fetal Reserve Index (FRI) show promise by incorporating clinical risk factors with traditional FHR patterns to provide higher-level risk assessment and prognosis. <b>Conclusions:</b> The shortcomings of visual interpretation of FHR patterns persist despite technological advances. Future intelligent intrapartum surveillance systems must combine conventional fetal monitoring with comprehensive risk assessment that incorporates maternal, fetal, and obstetric factors. The integration of artificial intelligence with contextualized metrics like the FRI represents the most promising direction for improving intrapartum fetal surveillance and clinical outcomes.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145299145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Robust Semi-Supervised Brain Tumor MRI Classification Network for Data-Constrained Clinical Environments.","authors":"Subhash Chand Gupta, Vandana Bhattacharjee, Shripal Vijayvargiya, Partha Sarathi Bishnu, Raushan Oraon, Rajendra Majhi","doi":"10.3390/diagnostics15192485","DOIUrl":"10.3390/diagnostics15192485","url":null,"abstract":"<p><p><b>Background:</b> The accurate classification of brain tumor subtypes from MRI scans is critical for timely diagnosis, yet the manual annotation of large datasets remains prohibitively labor-intensive. <b>Method:</b> We present SSPLNet (Semi-Supervised Pseudo-Labeling Network), a dual-branch deep learning framework that synergizes confidence-guided iterative pseudo-labelling with deep feature fusion to enable robust MRI-based tumor classification in data-constrained clinical environments. SSPLNet integrates a custom convolutional neural network (CNN) and a pretrained ResNet50 model, trained semi-supervised using adaptive confidence thresholds (τ = 0.98 → 0.95 → 0.90) to iteratively refine pseudo-labels for unlabelled MRI scans. Feature representations from both branches are fused via a dense network, combining localized texture patterns with hierarchical deep features. <b>Results:</b> SSPLNet achieves state-of-the-art accuracy across labelled-unlabelled data splits (90:10 to 10:90), outperforming supervised baselines in extreme low-label regimes (10:90) by up to 5.34% from Custom CNN and 5.58% from ResNet50. The framework reduces annotation dependence and with 40% unlabeled data maintains 98.17% diagnostic accuracy, demonstrating its viability for scalable deployment in resource-limited healthcare settings. <b>Conclusions:</b> Statistical Evaluation and Robustness Analysis of SSPLNet Performance confirms that SSPLNet's lower error rate is not due to chance. The bootstrap results also confirm that SSPLNet's reported accuracy falls well within the 95% CI of the sampling distribution.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12524090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Severe Pelvic Organ Prolapse with Massive Perineal Hernia in a Nulliparous Woman: A Case Report and Literature Review.","authors":"Andrea Rus, Andrei Manea, Andrei Cora, Béla Szabó, Ioana Hălmaciu","doi":"10.3390/diagnostics15192481","DOIUrl":"10.3390/diagnostics15192481","url":null,"abstract":"<p><p><b>Background and Clinical Significance:</b> Advanced pelvic organ prolapse (POP) associated with perineal herniation of pelvic and abdominal organs is a sporadic occurrence in gynaecological practice. Generally, POP affects up to 50% of multiparous women at some point during their lives. Advanced forms (grade III or IV) represent less than 10% of all cases, with severe grade IV prolapse occurring in fewer than 2% of patients. <b>Case Presentation:</b> We report the case of a 48-year-old nulliparous woman with no prior surgical history and no known medical conditions at presentation. The patient presented with severe grade IV POP (Baden-Walker Classification), characterised by abdominal pain, vaginal bleeding and significant urinary incontinence. A computed tomography scan was performed, revealing an extremely large perineal hernia, containing the uterus, urinary bladder, and small bowel loops-a rare finding with only isolated cases reported in the medical literature. Surgical treatment involved a total intracapsular hysterectomy with right-sided adnexectomy and colpoperineorrhaphy. After the surgery, the overall status of the patient was good. However, less than two months later, she returned, complaining of a recurrence of the initial pathology, and was diagnosed with grade II/III POP recurrence despite having no connective tissue disorders or other classical predisposing factors such as pregnancies, pelvic surgery history or obstetric trauma. The case was further complicated by a femoral neck fracture, stage V chronic kidney disease, COVID-19 pneumonia, and a <i>Clostridium difficile</i> infection. All these complications led to the postponement of the gynaecological reintervention procedure. <b>Conclusions:</b> We emphasise the significant challenges in managing this kind of perineal hernia, under unusual conditions and without common risk factors. A personalised, multidisciplinary approach is required, including careful follow-up to prevent early recurrence.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimising Multimodal Image Registration Techniques: A Comprehensive Study of Non-Rigid and Affine Methods for PET/CT Integration.","authors":"Babar Ali, Mansour M Alqahtani, Essam M Alkhybari, Ali H D Alshehri, Mohammad Sayed, Tamoor Ali","doi":"10.3390/diagnostics15192484","DOIUrl":"10.3390/diagnostics15192484","url":null,"abstract":"<p><p><b>Background/Objective</b>: Multimodal image registration plays a critical role in modern medical imaging, enabling the integration of complementary modalities such as positron emission tomography (PET) and computed tomography (CT). This study compares the performance of three widely used image registration techniques-Demons Image Registration with Modality Transformation, Free-Form Deformation using the Medical Image Registration Toolbox (MIRT), and MATLAB Intensity-Based Registration-in terms of improving PET/CT image alignment. <b>Methods</b>: A total of 100 matched PET/CT image slices from a clinical scanner were analysed. Preprocessing techniques, including histogram equalisation and contrast enhancement (via imadjust and adapthisteq), were applied to minimise intensity discrepancies. Each registration method was evaluated under varying parameter conditions with regard to sigma fluid (range 4-8), histogram bins (100 to 256), and interpolation methods (linear and cubic). Performance was assessed using quantitative metrics: root mean square error (RMSE), mean squared error (MSE), mean absolute error (MAE), the Pearson correlation coefficient (PCC), and standard deviation (STD). <b>Results</b>: Demons registration achieved optimal performance at a sigma fluid value of 6, with an RMSE of 0.1529, and demonstrated superior computational efficiency. The MIRT showed better adaptability to complex anatomical deformations, with an RMSE of 0.1725. MATLAB Intensity-Based Registration, when combined with contrast enhancement, yielded the highest accuracy (RMSE = 0.1317 at alpha = 6). Preprocessing improved registration accuracy, reducing the RMSE by up to 16%. <b>Conclusions</b>: Each registration technique has distinct advantages: the Demons algorithm is ideal for time-sensitive tasks, the MIRT is suited to precision-driven applications, and MATLAB-based methods offer flexible processing for large datasets. This study provides a foundational framework for optimising PET/CT image registration in both research and clinical environments.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12524259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145299135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Cost-Effective Screening Inflammation Indicator for Atopic Dermatitis Suitable for Primary Care and Self-Assessment.","authors":"Chengbin Ye, Xuyang Zhou, Ying Zou","doi":"10.3390/diagnostics15192483","DOIUrl":"10.3390/diagnostics15192483","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Atopic dermatitis (AD), a chronic inflammatory skin condition, significantly impairs quality of life but remains underdiagnosed in primary care. Blood-cell-count-derived inflammatory indices are emerging as cost-effective biomarkers, but their pathological relevance to AD is limited and requires further discussion. <b>Methods</b>: We developed the Atopic Inflammation Index (AII), a novel blood-cell-based biomarker reflecting AD pathogenesis, and initially assessed its levels in AD patients and healthy controls using clinical samples from Shanghai, China. We then analyzed data from the NHANES (National Health and Nutrition Examination Survey) 2005-2006 cohort (<i>n</i> = 6855) to verify the AII-AD association and compared AII's diagnostic performance with IgE and eosinophils. <b>Results</b>: Clinical analysis showed a nonlinear association between AII and AD severity. AII effectively distinguished AD patients (including mild cases) from healthy controls (<i>p</i> < 0.001) without elevation in psoriasis or urticaria, unlike eosinophils. In NHANES 2005-2006 (<i>n</i> = 720 AD cases, 10.5%), AII levels were higher in AD compared to non-AD patients (2.33 [1.39-4.09] vs. 2.03 [1.19-3.49], <i>p</i> = 0.007) and remained independently associated after adjustment (OR = 1.03, 95%CI = 1.01-1.04, <i>p</i> = 0.003), while IgE/eosinophils showed non-significant trends. Restricted cubic splines confirmed linear prediction (<i>p</i> = 0.006), and subgroup analyses supported consistency (<i>P</i>-interaction > 0.05). AII outperformed eosinophils (AUC:0.568 vs. 0.546, <i>p</i> = 0.025) with improved detection (sensitivity 0.361→0.614). Sensitivity analysis confirmed robustness after excluding medications, chronic diseases and adult populations. <b>Conclusions</b>: AII is stable and reliable in screening and diagnosing AD, offering a low-cost, practical solution for primary care. This verifies the feasibility of integrating existing detection indicators into new biomarkers, providing valuable inspiration for precision medicine research.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rapid Identification of Carbapenemase Genes Directly from Blood Culture Samples.","authors":"Ghada A Ziad, Deena Jalal, Mohamed Hashem, Ahmed A Sayed, Sally Mahfouz, Ahmed Bayoumi, Maryam Lotfi, Omneya Hassanain, May Tolba, Youssef Madney, Lobna Shalaby, Mervat Elanany","doi":"10.3390/diagnostics15192480","DOIUrl":"10.3390/diagnostics15192480","url":null,"abstract":"<p><p><b>Background/Objectives:</b> The rapid identification of carbapenemase genes directly from positive blood culture (BC) samples shortens the time needed to initiate optimal antimicrobial therapy for Carbapenemase-Producing Enterobacterales (CPE) infections. Several commercial automated PCR systems are available for detecting CPE resistance genes but are expensive. The Xpert^® Carba-R assay (Cepheid GeneXpert System) has high sensitivity and specificity for the detection of carbapenamase genes from bacterial colonies or rectal swabs, with an affordable price. This assay was not used for positive BC testing of CPE resistance genes. Whole-Genome Sequencing (WGS) for resistance genes can be used as the gold standard at a research level. In this study, we evaluated the performance of the Xpert^® Carba-R assay for the early detection of carbapenamase genes directly from positive BCs, using WGS as the gold standard. <b>Methods:</b> A prospective observational study was conducted at Children's Cancer Hospital-Egypt (CCHE-57357). All positive BCs underwent direct gram staining and conventional cultures. A total of 590 positive BCs containing Gram-negative rods (GNRs) were identified. The Xpert^® Carba-R assay was used to detect carbapenemase genes directly from the positive BC bottle compared with WGS results. <b>Results:</b> Among the 590 GNR specimens, 178 were found to carry carbapenemase genes using the Xpert^® Carba-R assay, with results obtained in approximately one hour. The main genotypes detected were <i>bla</i>_NDM, <i>bla</i>_OXA-48-like, and dual <i>bla</i>_NDM/<i>bla</i>_OXA-48-like at 27%, 29%, and 33%, respectively. The agreement between Xpert^® Carba-R assay and WGS results was almost perfect for the genotype resistance pattern of isolates and individual gene detection. <b>Conclusions:</b> The use of the Xpert^® Carba-R assay directly from BC bottles was an easy-to-use, time-saving, affordable tool with high accuracy in identifying carbapenemase genes and, thus, shortens the time needed to initiate optimal antimicrobial therapy for CPE infections.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145299258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}