Search Results (1,877)

Cervical cancer remains a major health burden among women in sub-Saharan Africa, where screening is often limited. Persistent high-risk human papillomavirus (HR-HPV) infection is the principal cause, highlighting the need for accurate molecular diagnostics. This cross-sectional study evaluated the analytical performance of one mRNA assay, APTIMA^® HPV assay (APTIMA mRNA), and two DNA-based assays, the Abbott RealTime High Risk HPV assay (Abbott DNA) and Seegene Allplex™ II HPV28 assay (Seegene DNA), in 527 cervical samples from a South African tertiary hospital, focusing on 14 shared HR-HPV genotypes. Seegene DNA yielded the highest detection rate (53.7%), followed by Abbott DNA (48.2%) and APTIMA mRNA (45.2%). APTIMA mRNA showed a strong agreement with Abbott DNA (87.9%, κ = 0.80), 89.9% sensitivity, 91.2% NPV, and the highest accuracy (AUC = 0.8804 vs. 0.8681). The agreement between APTIMA mRNA and Seegene DNA was moderate (83.4%, κ = 0.70), reflecting target differences. Many DNA-positive/mRNA-negative cases likely represent transient infections, though some may be latent with reactivation potential, warranting a follow-up. In resource-constrained settings, prioritizing transcriptionally active infections through mRNA testing may enhance screening efficiency and reduce burden. Scalable, cost-effective assays with strong clinical utility are essential for broadening access and improving cervical cancer prevention. Further studies should assess the integration of mRNA testing into longitudinal screening algorithms. Full article

Background: Septic arthritis is an orthopedic emergency. However, optimal biomarkers and diagnostic criteria remain unclear. The study aimed to evaluate the diagnostic performance of routinely used and novel biomarkers, including serum C-reactive protein (CRP), synovial white blood cells (WBC), pentraxin-3 (PTX3), interleukin-6 (IL-6), and presepsin, in distinguishing septic from non-septic arthritis. Methods: Thirty-one patients undergoing arthrocentesis were included. Patients were categorized into septic and non-septic arthritis groups. Synovial fluid and serum samples were analyzed for five biomarkers. Diagnostic performance was assessed by calculating the area under the curve (AUC), accuracy, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: Synovial WBC demonstrated the highest diagnostic performance among single biomarkers (AUC = 0.837, p = 0.012). Among novel biomarkers, PTX3 showed the highest accuracy and sensitivity. The serum CRP and synovial WBC combination yielded an AUC of 0.853, with 100% sensitivity, 68.0% specificity, 42.9% PPV, and 100% NPV. Adding all three novel biomarkers to this combination increased the AUC to 0.887 (p = 0.004), maintaining 100% sensitivity and NPV. When individually added, PTX3 achieved 100% sensitivity and NPV, while presepsin showed the highest specificity (96.0%), PPV (75.0%), and accuracy (87.1%). Conclusions: Serum CRP and synovial WBC remain essential biomarkers for diagnosing septic arthritis; however, combining them with PTX3, IL-6, and presepsin improved diagnostic accuracy. PTX3 is best suited for ruling out septic arthritis due to its high sensitivity and NPV, whereas presepsin is more useful for confirmation, given its specificity and PPV. These results support a tailored biomarker approach aligned with diagnostic intent. Full article

Background: Artificial intelligence (AI) and machine learning (ML) have been reshaping maternal, fetal, neonatal, and reproductive healthcare by enhancing risk prediction, diagnostic accuracy, and operational efficiency across the perinatal continuum. However, no comprehensive synthesis has yet been published. Objective: To conduct a scoping review of reviews of AI/ML applications spanning reproductive, prenatal, postpartum, neonatal, and early child-development care. Methods: We searched PubMed, Embase, the Cochrane Library, Web of Science, and Scopus through April 2025. Two reviewers independently screened records, extracted data, and assessed methodological quality using AMSTAR 2 for systematic reviews, ROBIS for bias assessment, SANRA for narrative reviews, and JBI guidance for scoping reviews. Results: Thirty-nine reviews met our inclusion criteria. In preconception and fertility treatment, convolutional neural network-based platforms can identify viable embryos and key sperm parameters with over 90 percent accuracy, and machine-learning models can personalize follicle-stimulating hormone regimens to boost mature oocyte yield while reducing overall medication use. Digital sexual-health chatbots have enhanced patient education, pre-exposure prophylaxis adherence, and safer sexual behaviors, although data-privacy safeguards and bias mitigation remain priorities. During pregnancy, advanced deep-learning models can segment fetal anatomy on ultrasound images with more than 90 percent overlap compared to expert annotations and can detect anomalies with sensitivity exceeding 93 percent. Predictive biometric tools can estimate gestational age within one week with accuracy and fetal weight within approximately 190 g. In the postpartum period, AI-driven decision-support systems and conversational agents can facilitate early screening for depression and can guide follow-up care. Wearable sensors enable remote monitoring of maternal blood pressure and heart rate to support timely clinical intervention. Within neonatal care, the Heart Rate Observation (HeRO) system has reduced mortality among very low-birth-weight infants by roughly 20 percent, and additional AI models can predict neonatal sepsis, retinopathy of prematurity, and necrotizing enterocolitis with area-under-the-curve values above 0.80. From an operational standpoint, automated ultrasound workflows deliver biometric measurements at about 14 milliseconds per frame, and dynamic scheduling in IVF laboratories lowers staff workload and per-cycle costs. Home-monitoring platforms for pregnant women are associated with 7–11 percent reductions in maternal mortality and preeclampsia incidence. Despite these advances, most evidence derives from retrospective, single-center studies with limited external validation. Low-resource settings, especially in Sub-Saharan Africa, remain under-represented, and few AI solutions are fully embedded in electronic health records. Conclusions: AI holds transformative promise for perinatal care but will require prospective multicenter validation, equity-centered design, robust governance, transparent fairness audits, and seamless electronic health record integration to translate these innovations into routine practice and improve maternal and neonatal outcomes. Full article

Background: Pigmented superficial skin lesions pose a persistent diagnostic challenge due to overlapping clinical and dermoscopic appearances between benign and malignant entities. While histopathology remains the gold standard, there is growing interest in non-invasive imaging models that can preoperatively stratify malignancy risk. This methodological pilot study was designed to explore the feasibility and initial diagnostic performance of a novel radiology-adapted logistic regression approach. To develop and preliminarily evaluate a new logistic model integrating both structural (lesion size, depth) and vascular (Doppler patterns) ultrasonographic features for non-invasive risk stratification of pigmented superficial skin lesions. Material and Methods: In this prospective single-center pilot investigation, 44 patients underwent standardized high-frequency grayscale and Doppler ultrasound prior to excisional biopsy. Lesion size, depth, and vascularity patterns were systematically recorded. Three logistic regression models were constructed: (1) based on lesion size and depth, (2) based on vascularity patterns alone, and (3) combining all parameters. Model performance was assessed via ROC curve analysis. Intra-observer reliability was determined by repeated measurements on a random subset. Results: The lesion size and depth model yielded an AUC of 0.79, underscoring the role of structural features. The vascularity-only model showed an AUC of 0.76. The combined model demonstrated superior discriminative ability, with an AUC of approximately 0.85. Intra-observer analysis confirmed excellent repeatability (κ > 0.80; ICC > 0.85). Conclusions: This pilot study introduces a novel logistic framework that combines grayscale and Doppler ultrasound parameters to enhance non-invasive malignancy risk assessment in pigmented superficial skin lesions. These encouraging initial results warrant larger multicenter studies to validate and refine this promising approach. Full article

Background/Objectives: Caries risk assessment is essential for the management of dental caries. There are different assessment methods with the most commonly used being CAMBRA, the Cariogram, and Caries Risk Semaphore (CRS). The aim of this study was to determine the diagnostic agreement between the three different caries risk assessment methods mentioned above. Methods: This study was conducted in the Dental Clinic of the University of Valencia by Preventive and Community Dentistry II students on patients examined during clinical practices (n = 672). Patients were evaluated to determine their caries risk using the three methods named above. A descriptive analysis of the sample was performed, and diagnostic agreement was assessed using the Kappa coefficient. Results: According to CRS, 321 patients (48%) showed high risk, 96 patients (14%) moderate risk, and 255 (38%) low risk. The highest diagnostic agreement was found between CRS and CAMBRA, with an unweighted Kappa of 0.36. Regarding risk severity assessments, the highest Kappa was also observed between CRS and CAMBRA, with a Kappa of 0.46 for low risk, 0.14 for moderate risk, and 0.40 for high risk. Conclusions: There is an important heterogeneity in the obtained results. This highlights the need to further study different caries risk assessment methods and determine their predictive capacity to choose the one that yields the best outcome. Full article

Prognostic markers such as overall survival (OS) and tertiary lymphoid structure (TLS) ratios, alongside diagnostic signatures like primary cancer-type classification, provide critical information for treatment selection, risk stratification, and longitudinal care planning across the oncology continuum. However, extracting these signals solely from sparse, high-dimensional multi-omics data remains a major challenge due to heterogeneity and frequent missingness in patient profiles. To address this challenge, we present SeNMo, a self-normalizing deep neural network trained on five heterogeneous omics layers—gene expression, DNA methylation, miRNA abundance, somatic mutations, and protein expression—along with the clinical variables, that learns a unified representation robust to missing modalities. Trained on more than 10,000 patient profiles across 32 tumor types from The Cancer Genome Atlas (TCGA), SeNMo provides a baseline that can be readily fine-tuned for diverse downstream tasks. On a held-out TCGA test set, the model achieved a concordance index of 0.758 for OS prediction, while external evaluation yielded 0.73 on the CPTAC lung squamous cell carcinoma cohort and 0.66 on an independent 108-patient Moffitt Cancer Center cohort. Furthermore, on Moffitt’s cohort, baseline SeNMo fine-tuned for TLS ratio prediction aligned with expert annotations (p < 0.05) and sharply separated high- versus low-TLS groups, reflecting distinct survival outcomes. Without altering the backbone, a single linear head classified primary cancer type with 99.8% accuracy across the 33 classes. By unifying diagnostic and prognostic predictions in a modality-robust architecture, SeNMo demonstrated strong performance across multiple clinically relevant tasks, including survival estimation, cancer classification, and TLS ratio prediction, highlighting its translational potential for multi-omics oncology applications. Full article

Background/Objectives: Malnutrition is a common problem in children with cerebral palsy (CP). The aim of this study was to investigate the suitability and diagnostic performance of mid-upper arm circumference (MUAC) z-score in diagnosing wasting in children with CP, and its impact on diagnostic accuracy when evaluated concomitantly with additional clinical factors (birth weight, history of phototherapy). Methods: This single-center, cross-sectional study included 83 children with CP, aged 6 months–17 years, followed-up in our clinic. Anthropometric measurements (MUAC, Body Mass Index (BMI)) and clinical data (birth weight, history of phototherapy, Gross Motor Function Classification System (GMFCS)) were prospectively collected. Wasting was defined according to the BMI z-score ≤ −2 criteria. The diagnostic performance of MUAC z-score was evaluated by Receiver Operating Characteristic (ROC) analysis. The contribution of additional covariates was examined using logistic regression analysis and the backward elimination method. Results: MUAC z-score alone demonstrated good discrimination in diagnosing wasting with an Area Under the Curve (AUC) value between 0.805 and 0.821, but its sensitivity was limited (67.0%). No statistically significant difference was found in diagnostic performance between MUAC measurements of the right arm, left arm, and the unaffected arm (p > 0.050). In logistic regression analysis, MUAC z-score (p = 0.001), birth weight (p = 0.014), and a history of phototherapy (p = 0.046) were found to be significantly associated with wasting malnutrition. The simplified model including these variables yielded an AUC value of 0.876. Conclusions: MUAC z-score is a usable tool for wasting malnutrition screening in children with CP. Although its sensitivity is limited when used alone, its diagnostic accuracy increases when evaluated concomitantly with additional clinical factors such as birth weight and a history of phototherapy. This combined approach may offer clinicians a more robust tool for the early diagnosis and management of wasting malnutrition in children with CP. Full article

Porcine Rotavirus (PoRV), a predominant causative agent of neonatal diarrhea in piglets, shares substantial genetic homology with human rotavirus and represents a considerable threat to both public health and the global swine industry in the absence of specific antiviral interventions. The VP6 protein, an internal capsid component, is characterized by exceptional sequence conservation and robust immunogenicity, rendering it an ideal candidate for viral genotyping and vaccine development. In the present study, the recombinant plasmid pET28a(+)-VP6 was engineered to facilitate the high-yield expression and purification of the VP6 antigen. BALB/c mice were immunized to generate monoclonal antibodies (mAbs) through hybridoma technology, and the antigenic specificity of the resulting mAbs was stringently validated. Subsequently, a panel of truncated protein constructs was designed to precisely map linear B-cell epitopes, followed by comparative conservation analysis across diverse PoRV strains. Functional validation demonstrated that all three mAbs exhibited high-affinity binding to VP6, with a peak detection titer of 1:3,000,000 and exclusive specificity toward PoRVA. These antibodies effectively recognized representative genotypes such as G3 and X1, while exhibiting no cross-reactivity with unrelated viral pathogens; however, their reactivity against other PoRV serogroups (e.g., types B and C) remains to be further elucidated. Epitope mapping identified two novel linear B-cell epitopes, ¹²⁸YIKNWNLQNR¹³⁷ and ¹³⁸RQRTGFVFHK¹⁴⁷, both displaying strong sequence conservation among circulating PoRV strains. Collectively, these findings provide a rigorous experimental framework for the functional dissection of VP6 and reinforce its potential as a valuable diagnostic and immunoprophylactic target in PoRV control strategies. Full article

Background: Cell-free DNA (cfDNA) has become a cornerstone of liquid biopsy applications, offering promise for early disease detection and monitoring. However, its widespread clinical adoption is limited by variability in pre-analytical processing, especially during isolation. Current extraction methods face challenges in yield, purity, and reproducibility. Methods: We developed and optimized SafeCAP 2.0, a novel magnetic bead-based cfDNA extraction kit, focusing on efficient recovery, minimal genomic DNA contamination, and PCR compatibility. Optimization involved systematic evaluation of magnetic bead chemistry, buffer composition, and reagent volumes. Performance was benchmarked against a commercial reference kit (Apostle MiniMax) using spiked oligonucleotides and plasma from patients with stage IV NSCLC. Results: The optimized protocol demonstrated superior recovery with a limit of detection (LoD) as low as 0.3 pg/µL and a limit of quantification (LoQ) of 1 pg/μL with no detectable PCR inhibition. In comparative studies, SafeCAP 2.0 showed equivalent or improved performance over the commercial kit. Clinical validation using 47 patient plasma samples confirmed robust cfDNA recovery and fragment integrity. Conclusions: SafeCAP 2.0 offers a cost-effective, high-performance solution for cfDNA extraction in both research and clinical workflows. Its design and validation address key pre-analytical barriers, supporting integration into routine diagnostics and precision medicine platforms. Full article

Objective: Physical joint examination is fundamental in rheumatoid arthritis (RA) assessment. This study evaluated the diagnostic accuracy and agreement between standardized and non-standardized physical joint examinations in RA patients using musculoskeletal ultrasound as the reference standard. Methods: We assessed the joints for tenderness and swelling, calculating sensitivity, specificity, and predictive values. Musculoskeletal ultrasound was used as the reference standard, with adjustment for imperfect reference bias. Agreement between the methods was evaluated using the average kappa coefficient. Results: A total of 1496 joints were evaluated. Without adjustment for imperfect reference bias, standardized examination showed higher sensitivity for detecting pain and swelling than non-standardized examination. Specificity was similar for pain but higher for swelling in standardized examination. After bias adjustment, standardized examination sensitivity improved for pain (93.8% vs. 77.3%; 95% CI: 0.14–0.19) and swelling (91.9% vs. 60.0%; 95% CI: 0.29–0.34). Tenderness specificity remained comparable (standardized examination: 75.4%, non-standardized examination: 76.3%), while the non-standardized examination maintained superior swelling specificity (85.7% vs. 77.1%). Standardized joint examination demonstrated significantly higher concordance than non-standardized assessment in evaluating joint tenderness; standardized assessment yielded significantly greater average kappa coefficients under both false-positive-prioritized (0.44 vs. 0.37; p = 0.01) and false-negative-prioritized scenarios (0.59 vs. 0.45; p < 0.0001). For joint swelling, standardized evaluation showed significantly higher concordance when false negatives were considered more critical (0.59 vs. 0.37; p < 0.0001), whereas differences under false-positive prioritization were not statistically significant. Conclusions: Standardization of the physical joint examination significantly improves diagnostic accuracy and agreement in detecting joint tenderness and swelling in patients with rheumatoid arthritis. Implementing a standardized physical examination protocol may enhance disease activity diagnosis and optimize clinical management of RA. Full article

Urban areas are responsible for most of Europe’s energy demand and emissions and urgently require building retrofits to meet climate neutrality goals. This study evaluates the energy efficiency potential of three public school buildings in western Macedonia, Greece—a cold-climate region with high heating needs. The buildings, constructed between 1986 and 2003, exhibited poor insulation, outdated electromechanical systems, and inefficient lighting, resulting in high oil consumption and low energy ratings. A robust methodology is applied, combining detailed on-site energy audits, thermophysical diagnostics based on U-value calculations, and a techno-economic assessment utilizing Net Present Value (NPV), Internal Rate of Return (IRR), and SWOT analysis. The study evaluates a series of retrofit measures, including ceiling insulation, high-efficiency lighting replacements, and boiler modernization, against both technical performance criteria and financial viability. Results indicate that ceiling insulation and lighting system upgrades yield positive economic returns, while wall and floor insulation measures remain financially unattractive without external subsidies. The findings are further validated through sensitivity analysis and policy scenario modeling, revealing how targeted investments, especially when supported by public funding schemes, can maximize energy savings and emissions reductions. The study concludes that selective implementation of cost-effective measures, supported by public grants, can achieve energy targets, improve indoor environments, and serve as a replicable model of targeted retrofits across the region, though reliance on external funding and high upfront costs pose challenges. Full article

Background/Objectives: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. Methods: A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing underwent commercial panel-based sequencing (Invitae or Blueprint Genetics), clinical assessment, and multimodal imaging. Retinal images were graded using the Human Phenotype Ontology terms. Binary logistic regression was used to evaluate clinical predictors of a positive molecular diagnosis. Results: Among 140 participants (mean age 49 ± 19 years), genetic testing was undertaken, on average, 23 ± 17 years after the initial clinical IRD diagnosis. Of the 60% who received a probable molecular diagnosis, 40% require further phase testing, highlighting the limitations of singleton genetic testing. USH2A, ABCA4, and RPGR were the most common encountered genes; 67% of the probably solved participants had causative genes with targeted experimental treatments in ongoing human clinical trials. Symptom onset before the age of 30 (OR = 3.06 [95% CI: 1.34–7.18]) and a positive IRD family history (OR = 2.87 [95% CI: 1.27–6.78]) were each associated with higher odds of receiving a molecular diagnosis. Diagnostic rates were comparable across retinal imaging phenotypes (atrophy and autofluorescence patterns in widespread IRD, and the extent of dystrophy in macular IRDs). Conclusions: In an Australian IRD population without prior genetic testing, commercial panels yielded higher diagnostic rates in individuals with IRD onset before the age of 30 and those with an IRD family history. Further research is needed to understand the genetic basis of IRDs, especially isolated and late-onset cases, to improve diagnosis and access to emerging therapies. Full article

Background: As part of different navigational bronchoscopy (NVB) modalities, radial-probe endobronchial ultrasound (rEBUS) is used to confirm the peribronchial localization of peripheral pulmonary nodules (PPNs) immediately before collecting samples for histopathological analysis. Methods: This retrospective case series study presents the results of en bloc cryobiopsy of PPNs using a flexible 1.1-mm cryoprobe with different NVB modalities. For PPNs classified as adjacent or eccentric lesions by rEBUS (ES-rEBUS), the cryoprobe’s position was adjusted by 90–180° in relation to the ultrasound image of the lesion during the first and second biopsies. Results: All patients with a final histopathologically confirmed diagnosis of PPNs had positive rEBUS findings, regardless of the navigation modality, eccentric (18/42 patients, 43%) and concentric (24/42 patients, 57%) rEBUS view. In 5 out of 6 patients without a histopathological diagnosis, PPNs were not visualized by radial ultrasound. In the (ES-rEBUS) group of patients, 4 out of 18 had fewer than three biopsy samples collected per procedure, which means only an adjusted probe position has been applied, although diagnostic outcomes were achieved. Common Terminology Criteria for Adverse Events (CTCAE) grade 2 complications were reported in 10.4% of the patients, and grade 3 complications in 2% of the patients. Conclusions: Confirming the localization of nodules by rEBUS and properly adjusting the cryoprobe immediately before cryobiopsy of PPNs resulted in a diagnostic yield meeting the literature standards. Full article

Jute, a vital lignocellulosic fiber crop with substantial industrial and ecological relevance, continues to suffer considerable yield and quality degradation due to pervasive foliar pathologies. Traditional diagnostic modalities reliant on manual field inspections are inherently constrained by subjectivity, diagnostic latency, and inadequate scalability across geographically distributed agrarian systems. To transcend these limitations, we propose DERIENet, a robust and scalable classification approach within a deep ensemble learning framework. It is meticulously engineered by integrating three high-performing convolutional neural networks—ResNet50, InceptionV3, and EfficientNetB0—along with regularization, batch normalization, and dropout strategies, to accurately classify jute leaf diseases such as Cercospora Leaf Spot, Golden Mosaic Virus, and healthy leaves. A key methodological contribution is the design of a novel augmentation pipeline, termed Geometric Localized Occlusion and Adaptive Rescaling (GLOAR), which dynamically modulates photometric and geometric distortions based on image entropy and luminance to synthetically upscale a limited dataset (920 images) into a significantly enriched and diverse dataset of 7800 samples, thereby mitigating overfitting and enhancing domain generalizability. Empirical evaluation, utilizing a comprehensive set of performance metrics—accuracy, precision, recall, F1-score, confusion matrices, and ROC curves—demonstrates that DERIENet achieves a state-of-the-art classification accuracy of 99.89%, with macro-averaged and weighted average precision, recall, and F1-score uniformly at 99.89%, and an AUC of 1.0 across all disease categories. The reliability of the model is validated by the confusion matrix, which shows that 899 out of 900 test images were correctly identified and that there was only one misclassification. Comparative evaluations of the various ensemble baselines, such as DenseNet201, MobileNetV2, and VGG16, and individual base learners demonstrate that DERIENet performs noticeably superior to all baseline models. It provides a highly interpretable, deployment-ready, and computationally efficient architecture that is ideal for integrating into edge or mobile platforms to facilitate in situ, real-time disease diagnostics in precision agriculture. Full article

Background/Objectives: Deep models have achieved remarkable progress in the diagnosis of skin lesions but face two significant drawbacks. First, they cannot effectively explain the basis of their predictions. Although attention visualization tools like Grad-CAM can create heatmaps using deep features, these features often have large receptive fields, resulting in poor spatial alignment with the input image. Second, the design of most deep models neglects interpretable traditional visual features inspired by clinical experience, such as color–texture and edge features. This study aims to propose a novel approach integrating deep learning with traditional visual features to handle these limitations. Methods: We introduce the edge- and color–texture-aware bag-of-local-features model (ECT-BoFM), which limits the receptive field of deep features to a small size and incorporates edge and color–texture information from traditional features. A non-rigid reconstruction strategy ensures that traditional features enhance rather than constrain the model’s performance. Results: Experiments on the ISIC 2018 and 2019 datasets demonstrated that ECT-BoFM yields precise heatmaps and achieves high diagnostic performance, outperforming state-of-the-art methods. Furthermore, training models using only a small number of the most predictive patches identified by ECT-BoFM achieved diagnostic performance comparable to that obtained using full images, demonstrating its efficiency in exploring key clues. Conclusions: ECT-BoFM successfully combines deep learning and traditional visual features, addressing the interpretability and diagnostic accuracy challenges of existing methods. ECT-BoFM provides an interpretable and accurate framework for skin lesion diagnosis, advancing the integration of AI in dermatological research and clinical applications. Full article