Search Results (68)

In this study, we address the question of whether a waveguide with absorbing sidewalls can be considered pseudo free space and if the free-space transfer function is valid in such a medium. We test this hypothesis by applying a phase retrieval algorithm based on the free-space transfer function. First, optical measurements are carried out to measure the optical properties of a stack of thin films and select the parameters of simulations. Next, the propagation of light in a waveguide was simulated in COMSOL, and the phase of a wave was retrieved in MATLAB. Analysis was performed both for free-space conditions, and for a waveguide with absorbing sidewalls. The cross-correlation between the distributions of intensity under both conditions was about 0.40. The RMS error of the wave retrieved under free-space conditions was 0.378 rad, while that in the case of absorbing sidewalls was 0.323 rad, indicating successful retrieval. The successfully recovered phase of the input wave suggests that a waveguide with absorbing sidewalls can be approximated as pseudo free space and the free-space transfer function may be valid. These results may be used in future studies on how to shorten the phase retrieval of two-dimensional objects. Full article

Background: Chest X-rays are rapidly gaining prominence as a prevalent diagnostic tool, as recognized by the World Health Organization (WHO). However, interpreting chest X-rays can be demanding and time-consuming, even for experienced radiologists, leading to potential misinterpretations and delays in treatment. Method: The purpose of this research is the development of a RadAI model. The RadAI model can accurately detect four types of lung abnormalities in chest X-rays and generate a report on each identified abnormality. Moreover, deep learning algorithms, particularly convolutional neural networks (CNNs), have demonstrated remarkable potential in automating medical image analysis, including chest X-rays. This work addresses the challenge of chest X-ray interpretation by fine tuning the following three advanced deep learning models: Feature-selective and Spatial Receptive Fields Network (FSRFNet50), ResNext50, and ResNet50. These models are compared based on accuracy, precision, recall, and F1-score. Results: The outstanding performance of RadAI shows its potential to assist radiologists to interpret the detected chest abnormalities accurately. Conclusions: RadAI is beneficial in enhancing the accuracy and efficiency of chest X-ray interpretation, ultimately supporting the timely and reliable diagnosis of lung abnormalities. Full article

Background/Objectives: Accurately correlating mammographic findings with corresponding histopathologic features is considered one of the essential aspects of mammographic evaluation, guiding the next steps in cancer management and preventing overdiagnosis. The objective of this study was to evaluate patterns of mammographic microcalcifications and their association with histopathological findings related to various breast tumors. Methods: 110 out of 3603 women had microcalcification of BIRADS 3 or higher and were subjected to stereotactic/ultrasound (USG) guided biopsies, and hook-wire localization excision procedures. Ultrasound and mammography images were reviewed by experienced radiologists using the standard American College of Radiology Breast-Imaging Reporting and Data System (ACR BI-RADS). Results: Our study showed that features with a high positive predictive value (PPV) of breast malignancy were heterogeneous (75%), fine linear/branching pleomorphic microcalcifications (66.7%), linear (100%), and segmental distributions (57.1%). Features that showed a higher risk of association with ductal carcinoma in situ (DCIS) were fine linear/branching pleomorphic (odds ratio (OR): 3.952), heterogeneous microcalcifications (OR: 3.818), segmental (OR: 5.533), linear (OR: 3.696), and regional (OR: 2.929) distributions. Furthermore, the features with higher risks associated with invasive carcinoma had heterogeneous (OR: 2.022), fine linear/branching pleomorphic (OR: 1.187) microcalcifications, linear (OR: 6.2), and regional (OR: 2.543) distributions. The features of associated masses in mammograms that showed a high PPV of malignancy had high density (75%), microlobulation (100%), and spiculated margins (75%). Conclusions: We concluded that specific patterns and distributions of microcalcifications were indeed associated with a higher risk of malignancy. Those with fine linear or branching pleomorphic and segmental distribution were at a higher risk of DCIS, whereas those with heterogeneous morphology with a linear distribution were at a higher risk of invasive carcinoma. Full article

Multigene panel testing for hereditary breast and ovarian cancer is becoming a standard in medical care. Recent studies highlight the importance of pathogenic variants in genes with moderate or low penetrance. 255 consecutive breast cancer cases who met the criteria for genetic testing were approached by next-generation sequencing. From 104 pathogenic mutations identified, 21 were in moderate-risk genes, three in low-risk genes and eight in the group with insufficient evidence genes. The most frequent PVs in moderate-risk genes were in the CHEK2 gene—Checkpoint kinase 2 gene (13 cases), the ATM gene—Ataxia-telangiectasia Mutated gene (six cases), BARD1—BRCA1-associated ring domain 1 gene (one case) and RAD 51C–radiation sensitive 51 Paralog C—(one case) genes. Among the low-risk genes, we identified only three pathogenic mutations (two in MSH1 gene—melanocyte-stimulating hormone gene—and one in MLH1 gene—MutL homolog 1 gene). Reporting on low-risk mutations and those with insufficient evidence regarding breast cancer risk is valuable to enable a more comprehensive view of genetic factors influencing disease development and improve screening protocols, tailor diagnostic strategies, and individualize treatment plans. This approach also enhances our understanding of BC risk in various populations, potentially leading to new insights into genetic contributions to cancer and the refinement of risk models for patient care. Full article

This paper proposes a digital predictive peak current control (PPCC) strategy for superbuck converters. The proposed strategy incorporates a current predictor to calculate the output current and a peak current controller to calculate the required duty ratio for the next switching cycle. The duty ratio is precalculated ahead of a switching cycle, which creates a switching cycle for signal samplings and digital calculations. At the end of the next switching cycle, the output current peak value is regulated to match the reference value. The proposed strategy regulates the output current peak value to the reference value within two switching cycles. This increases the current loop bandwidth to π/T rad/s, which optimizes the transient performance. Moreover, a new damping parameter design method based on the damping ratio is given. Furthermore, a simplified version is proposed to facilitate digital realization. This version directly calculates the required duty ratio, which significantly reduces digital calculations. Finally, the experimental results demonstrate the effectiveness of the proposed control strategy in improving the transient performance of the superbuck converter. Full article

Background and Objectives: Despite the well-established role of the BRCA and mismatch repair (MMR) genes in DNA damage repair pathways, a substantial proportion of familial cancer cases still lack pathogenic variants in those genes. Next Generation Sequencing (NGS) panels have emerged as a powerful tool to identify hereditary cancer at-risk individuals and subsequently provide them with accurate management. Materials and Methods: Families harbouring PVs in RAD50, RAD51C, RAD51D, and BRIP1 were identified by analysing a cancer-predisposing genes panel using Ion S5 system technology. A retrospective cohort of 155 families tested only for the BRCAs of MMR genes were reanalysed, prompted by an increase in familial cases or new cancer diagnoses among index cases. Results: We identified 40 families through molecular reanalysis (33 with Hereditary Breast and Ovarian Cancer (HBOC) and 7 with Lynch Syndrome (LS)), with positive test results among 155 families lacking BRCA or MMR mutations. The most frequently mutated genes after ATM and CHEK2 were BRIP1, RAD51D, and RAD51C with 16, 13, and 9 positive families, respectively. The phenotype–genotype correlations not only revealed ovarian and HER-negative breast cancer predispositions but also other cancer types, particularly lung and gastric, and individuals with a second or third distinct cancer episode. Conclusions: Broader ranges of malignancies, including gastric, lung, and bladder, have been identified among BRIP1, RAD51D, and RAD51C positive families. The results generated using NGS provide a comprehensive genetic landscape in each patient that could explain the diversity of phenotypes shown in PV families that, combined with non-genetic factors, might enable accurate surveillance and personalized treatments. NGS reanalysis doubled our diagnostic yield and was a good strategy to identify hereditary cancer families that would otherwise be overlooked. Full article

This study presents a framework for designing symmetry-aware cooperative controllers to synchronize two SCARA LS3-B401S robots, ensuring precision, adaptability, and fault tolerance in flexible manufacturing environments. Four control strategies—Proportional–Integral–Derivative (PID), Adaptive Sliding Mode Control (ASMC), Adaptation-Enabled Neural Network (ANN), and Inverse-Dynamics with Disturbance Observer (ID-DO)—were evaluated through high-fidelity MATLAB/Simulink simulations (fixed 1 ms step size, ode4 solver), using dynamic SolidWorks 2022 models validated under realistic perturbations, including ±0.0005 rad sensor noise and ±5% mass variation. Among the strategies, the ANN controller—implemented as an 8-10-4 multi-layer perceptron—achieved the highest performance, consistently reducing trajectory errors by over 99%, maintaining symmetry deviations below 0.001 rad, and recovering from ±0.08 rad disturbances in 0.12 s. Its stabilization time averaged 0.247 s across joints, and energy consumption dropped to 0.01 J/s, representing a 98% improvement over PID. Despite a higher computational load (12.5 MFLOPS, 2.80 ms per iteration), GPU acceleration brought execution times below 1.4 ms, ensuring compliance with industrial 5 ms control cycles. These results establish a scalable foundation for next-generation multi-robot systems, with planned physical validation on SCARA LS3-B401S robots equipped with high-resolution encoders and advanced processors. By leveraging symmetry-driven coordination ($S=I$), the proposed framework supports resilient, sustainable, and high-precision manufacturing, aligned with the goals of Industry 5.0. Full article

Background/Objectives: No prior studies have attempted to identify a biomarker for initial brain metastasis velocity (iBMV), with limited studies attempting to correlate genomic data with the development of brain metastases. Methods: Patients with non-small-cell lung cancer (NSCLC) who underwent next-generation sequencing (NGS) were identified in our departmental database. iBMV was calculated by dividing the number of BMs by the interval of time between primary cancer and BM diagnosis. Two-sample t-testing was used to identify mutations statistically associated with iBMV (p < 0.1). A value of +1 was assigned to each mutation with a positive association (“deleterious genes”), and a value of −1 to each with an inverse association (“protective genes”). The sum of these values was calculated to define iBMV risk scores of −1, 0 and 1. Pearson correlation test was used to determine the association between iBMV risk score and calculated iBMV, and a competing risk analysis assessed for death as a competing risk to the development of BMs. Results: A total of 312 patients were included in the analysis, 218 of whom (70%) developed brain metastases. “Deleterious genes” included ARID1A, BRAF, CDK4, GNAQ, MLH1, MSH6, PALB2, RAD51D, RB1 and TSC1; “protective genes” included ARAF, IDH1, MYC, and PTPN11. iBMV risk scores of 1, 0 and −1, predicted an 88%, 61% and 65% likelihood of developing a BM (p < 0.01). A competing risk analysis found a significant association between iBMV risk scores of 1 vs. 0 and 1 vs. −1, and the likelihood of developing a BM using death as a competing risk. Overall survival (OS) at 1 and 2 years for patients with iBMV risk scores of 1, 0 and −1 was 72% vs. 84% vs. 85% and 46% vs. 69% vs. 70% (p < 0.02). Conclusions: Development of a genomic signature for iBMV via non-invasive liquid biopsy appears feasible in NSCLC patients. Patients with a positive iBMV risk score were more likely to develop brain metastases. Validation of this signature could lead to a biomarker with the potential to guide treatment recommendations and surveillance schedules. Full article

Next-generation passive optical networks (NG-PONs) are considered an essential solution for optical architectures, owing to the benefits of energy savings, service transparency, supporting several subscribers, and cost-effectiveness. In this work, a linearly polarized (LP [0,1]) modal bidirectional NG-PON using a graded-index multimode fiber (GIMMF) and free space optics (FSO) is realized. Four downlink/four uplink wavelengths are utilized under the impact of GIMMF nonlinearity, lens losses, and noise with a 100 m FSO link under clear air and weak turbulence. The results depict that a reliable 5.5 km range is obtained at an aggregate symmetric data rate of 40 Gbps. Also, the minimum focal length and lens reflectance of 0.085 m and 12–14.5% in the downlink as well as 0.08 m and 17–19% in the uplink are required, respectively, for a 10⁻⁹ bit error rate over a 5 km range. It is also realized that the generated LP modes offer an optimum power fraction of 0.52 to ~1 × 10⁻¹¹ in the downlink and 0.53 to 1 × 10⁻¹⁰ in the uplink and phase values of 0.23 to 4.79 rad in the downlink and 0.96 to 5.81 rad in the uplink direction. Compared to other systems, the proposed design shows optimum performance and offers a −25.47 dB gain, a 28.84 dB noise figure, a −18.46 dBm output signal, and a 30.51 dB optical signal-to-noise ratio. Full article

The evolutionary history of the Caribbean candelabrum octocorals from the genus Eunicea (Plexauridae: Octocorallia) remains unknown despite their high diversity and abundance in reef environments. Understanding the evolutionary relationships between and within the Eunicea species is critical to accurately measuring the group diversity. Furthermore, this group has a high potential for cryptic diversity and new species, particularly given the rich morphological variability. Conventional molecular markers, however, have not provided a precise positioning for the species inside the genus. Here, we provide the first phylogenomic reconstruction of these candelabrum octocorals employing NextRAD, a reduced-representation sequencing technique, to generate thousands of SNPs. We include 15 morphospecies sampled between valid and new species throughout the Caribbean. At large, the phylogeny is well supported and resolved. In total, 13 species-level clades are discernible, including two lineages with demonstrated genetic and morphological variation that are considered and described as two new species, Eunicea criptica sp. nov. and E. colombiensis sp. nov., both previously assigned as E. clavigera and the second as the “thick morphotype”, thereby increasing the diversity of the group. Understanding the magnitude of species diversity within Eunicea is essential for directing conservation initiatives and clarifying the biological processes in reef ecosystems. Full article

Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition genes among high—risk hereditary breast cancer patients from Southern Italy. We employed next-generation sequencing (NGS) to analyze 254 individuals selected through genetic counseling. Pathogenic or likely pathogenic variants were identified in 13% (34/254) of patients, with 54% of these variants occurring in non-BRCA1/2 genes. Notably, we observed a recurrent BRCA1 c.4964_4982del founder mutation, underscoring the importance of population-specific genetic screening. The spectrum of variants extended beyond BRCA1/2 to include PALB2, ATM, TP53, CHEK2, and RAD51C, highlighting the genetic heterogeneity of breast cancer susceptibility. Variants of uncertain significance were detected in 20% of patients, emphasizing the ongoing challenge of variant interpretation in the era of multi-gene panel testing. These findings not only enhance our understanding of the genetic landscape of breast cancer in Southern Italy but also provide a foundation for developing more targeted, population-specific approaches to genetic testing and counseling, ultimately contributing to the advancement of precision medicine in oncology. Full article

Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to colorectal cancer (CRC). However, the molecular basis of SPS, especially in cases presenting family history of SPS and/or polyps and/or CRC in first-degree relatives (SPS-FHP/CRC), is still poorly understood. In a previous study, we proposed the existence of two molecular entities amongst SPS-FHP/CRC families, proximal/whole-colon and distal SPS-FHP/CRC, according to the preferential location of lesions and somatic events involved in tumor initiation. In the present study, we aimed to investigate these distinct subgroups of SPS patients in a larger cohort at the germline level and to identify the genetic defects underlying an inherited susceptibility for these two entities. Next-generation sequencing was performed using multigene analysis with a custom-designed panel in a Miseq platform in 60 SPS patients (with and without/unknown FHP/CRC). We found germline pathogenic variants in 6/60 patients (ATM, FANCM, MITF, RAD50, RAD51C, and RNF43). We also found variants of unknown significance (VUS), with prediction of probable damaging effect in 23/60 patients (ATM, BLM, BRCA1, FAN1, ERCC2, ERCC3, FANCA, FANCD2, FANCL, MSH2, MSH6, NTHL1, PALB2, PDGFRA, PMS2, PTCH1, RAD51C, RAD51D, RECQL4, TSC2, WRN, and XRCC5 genes). Most variants were detected in gene coding for proteins of the Fanconi Anemia (FA) pathway involved in the DNA Interstrand-Cross Link repair (ICLR). Notably, variants in ICLR genes were significantly more frequent in the proximal/whole-colon than in the distal subgroup [15/44 (34%) vs 1/16 (6%), p = 0.025], as opposed to the non-ICLR genes that were slightly more frequent in the distal group [8/44 (18%) vs. 5/16 (31%), p > 0.05]. Germline defects in the DNA-ICLR genes may contribute to increased serrated colorectal polyps/carcinoma risk in SPS patients, particularly in proximal/whole-colon SPS. The inclusion of DNA-ICLR genes in the genetic diagnosis of SPS patients, mainly in those with proximal/whole-colon lesions, should be considered and validated by other studies. In addition, patients with germline defects in the DNA-ICLR genes may be more sensitive to treatment with platinum-based therapeutics, which can have implications in the clinical management of these patients. Full article

This study included 468 patients and aimed to use multimodal ultrasound radiomic technology to predict the malignancy of TI-RADS 4-5 thyroid nodules. First, radiomic features are extracted from conventional two-dimensional ultrasound (transverse ultrasound and longitudinal ultrasound), strain elastography (SE), and shear-wave-imaging (SWE) images. Next, the least absolute shrinkage and selection operator (LASSO) is used to screen out features related to malignant tumors. Finally, a support vector machine (SVM) is used to predict the malignancy of thyroid nodules. The Shapley additive explanation (SHAP) method was used to intuitively analyze the specific contributions of radiomic features to the model’s prediction. Our proposed model has AUCs of 0.971 and 0.856 in the training and testing sets, respectively. Our proposed model has a higher prediction accuracy compared to those of models with other modal combinations. In the external validation set, the AUC of the model is 0.779, which proves that the model has good generalization ability. Moreover, SHAP analysis was used to examine the overall impacts of various radiomic features on model predictions and local explanations for individual patient evaluations. Our proposed multimodal ultrasound radiomic model can effectively integrate different data collected using multiple ultrasound sensors and has good diagnostic performance for TI-RADS 4-5 thyroid nodules. Full article

Early diagnosis of lung cancer can significantly improve patient outcomes. We developed a Growth Predictive model based on the Wasserstein Generative Adversarial Network framework (GP-WGAN) to predict the nodule growth patterns in the follow-up LDCT scans. The GP-WGAN was trained with a training set (N = 776) containing 1121 pairs of nodule images with about 1-year intervals and deployed to an independent test set of 450 nodules on baseline LDCT scans to predict nodule images (GP-nodules) in their 1-year follow-up scans. The 450 GP-nodules were finally classified as malignant or benign by a lung cancer risk prediction (LCRP) model, achieving a test AUC of 0.827 ± 0.028, which was comparable to the AUC of 0.862 ± 0.028 achieved by the same LCRP model classifying real follow-up nodule images (p = 0.071). The net reclassification index yielded consistent outcomes (NRI = 0.04; p = 0.62). Other baseline methods, including Lung-RADS and the Brock model, achieved significantly lower performance (p < 0.05). The results demonstrated that the GP-nodules predicted by our GP-WGAN model achieved comparable performance with the nodules in the real follow-up scans for lung cancer diagnosis, indicating the potential to detect lung cancer earlier when coupled with accelerated clinical management versus the current approach of waiting until the next screening exam. Full article

The tyrosine kinase domain of the FMS-Like tyrosine kinase 3 (FLT3-TKD) is recurrently mutated in acute myeloid leukemia (AML). Common molecular techniques used in its detection include PCR and capillary electrophoresis, Sanger sequencing and next-generation sequencing with recognized sensitivity limitations. This study aims to validate the use of droplet digital PCR (ddPCR) in the detection of measurable residual disease (MRD) involving the common FLT3-TKD mutations (D835Y, D835H, D835V, D835E). Twenty-two diagnostic samples, six donor controls, and a commercial D835Y positive control were tested using a commercial Bio-rad^® ddPCR assay. All known variants were identified, and no false positives were detected in the wild-type control (100% specificity and sensitivity). The assays achieved a limit of detection suitable for MRD testing at 0.01% variant allelic fraction. Serial samples from seven intensively-treated patients with FLT3-TKD variants at diagnosis were tested. Five patients demonstrated clearance of FLT3-TKD clones, but two patients had FLT3-TKD persistence in the context of primary refractory disease. In conclusion, ddPCR is suitable for the detection and quantification of FLT3-TKD mutations in the MRD setting; however, the clinical significance and optimal management of MRD positivity require further exploration. Full article