Early detection of knee osteoarthritis (OA) is of great interest to orthopaedic surgeons, rheumatologists, radiologists, and researchers because it would allow physicians to provide patients with treatments and advice to slow the onset or progression of the disease. Early detection can be achieved by identifying early changes in selected features of degenerative articular cartilage (AC) using non-invasive imaging modalities. Magnetic resonance imaging (MRI) is becoming the standard for assessment of OA. The aim of this paper was to review the influence of MRI on the selection, detection, and measurement of AC features associated with early OA. Our review of the literature indicates that the changes associated with early OA are in cartilage thickness, cartilage volume, cartilage water content, and proteoglycan content that can be accurately, consistently, and non-invasively measured using MRI. Choosing an MR pulse sequence that provides the capability to assess cartilage physiology and morphology in a single acquisition and advanced multi-nuclei MRI is desirable. The results of the review indicate that using an ultra-high magnetic strength, MR imager does not affect early OA detection. In conclusion, MRI is currently the most suitable modality for early detection of knee OA, and future research should focus on the quantitative evaluation of early OA features using advances in MR hardware, software, and data processing with sophisticated image/pattern recognition techniques.
Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in oncology. Laboratory-based experimental methods for assessing these effects are time-consuming and often impractical, highlighting the importance of in-silico tools for variant impact prediction. However, the performance metrics of currently available tools on breast cancer missense variants from benchmarking databases have not been thoroughly investigated, creating a knowledge gap in the accurate prediction of pathogenicity. In this study, the benchmarking datasets ClinVar and HGMD were used to evaluate 21 Artificial Intelligence (AI)-derived in-silico tools. Missense variants in breast cancer genes were extracted from ClinVar and HGMD professional v2023.1. The HGMD dataset focused on pathogenic variants only, to ensure balance, benign variants for the same genes were included from the ClinVar database. Interestingly, our analysis of both datasets revealed variants across genes with varying penetrance levels like low and moderate in addition to high, reinforcing the value of disease-specific tools. The top-performing tools on ClinVar dataset identified were MutPred (Accuracy = 0.73), Meta-RNN (Accuracy = 0.72), ClinPred (Accuracy = 0.71), Meta-SVM, REVEL, and Fathmm-XF (Accuracy = 0.70). While on HGMD dataset they were ClinPred (Accuracy = 0.72), MetaRNN (Accuracy = 0.71), CADD (Accuracy = 0.69), Fathmm-MKL (Accuracy = 0.68), and Fathmm-XF (Accuracy = 0.67). These findings offer clinicians and researchers valuable insights for selecting, improving, and developing effective in-silico tools for breast cancer pathogenicity prediction. Bridging this knowledge gap contributes to advancing precision medicine and enhancing diagnostic and therapeutic approaches for breast cancer patients with potential implications for other conditions.