No abstract

A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls (P=0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.

PURPOSE Osteoporosis is the systematic degeneration of the human skeleton, with consequences ranging from a reduced quality of life to mortality. Therefore, the prediction of osteoporosis reduces risks and supports patients in taking precautions. Deep-learning and specific models achieve highly accurate results using different imaging modalities. The primary purpose of this research was to develop unimodal and multimodal deep-learning-based diagnostic models to predict bone mineral loss of the lumbar vertebrae using magnetic resonance (MR) and computed tomography (CT) imaging. METHODS Patients who received both lumbar dual-energy X-ray absorptiometry (DEXA) and MRI (n = 120) or CT (n = 100) examinations were included in this study. Unimodal and multimodal convolutional neural networks (CNNs) with dual blocks were proposed to predict osteoporosis using lumbar vertebrae MR and CT examinations in separate and combined datasets. Bone mineral density values obtained by DEXA were used as reference data. The proposed models were compared with a CNN model and six benchmark pre-trained deep-learning models. RESULTS The proposed unimodal model obtained 96.54%, 98.84%, and 96.76% balanced accuracy for MRI, CT, and combined datasets, respectively, while the multimodal model achieved 98.90% balanced accuracy in 5-fold cross-validation experiments. Furthermore, the models obtained 95.68%–97.91% accuracy with a hold-out validation dataset. In addition, comparative experiments demonstrated that the proposed models yielded superior results by providing more effective feature extraction in dual blocks to predict osteoporosis. CONCLUSION This study demonstrated that osteoporosis was accurately predicted by the proposed models using both MR and CT images, and a multimodal approach improved the prediction of osteoporosis. With further research involving prospective studies with a larger number of patients, there may be an opportunity to implement these technologies into clinical practice.

Artificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessment. Data from a total of 268 breast cancer patients have been analysed for 16 different risk factors including genetic variant classifications. In total, 61 BRCA1, 128 BRCA2 and 11 both BRCA1 and BRCA2 genes associated breast cancer patients’ data were used to train the system using Mamdani’s Fuzzy Inference Method and Feed-Forward Neural Network Method as the model softwares on MATLAB. Sixteen different tests were performed on twelve different subjects who had not been introduced to the system before. The rates for neural network were 99.9% for training success, 99.6% for validation success and 99.7% for test success. Despite neural network’s overall success was slightly higher than fuzzy logic accuracy, the results from developed systems were similar (99.9% and 95.5%, respectively). The developed models make predictions from a wider perspective using more risk factors including genetic variation data compared with similar studies in the literature. Overall, this artificial intelligence models present promising results for BRCA variations’ risk assessment in breast cancers as well as a unique tool for personalized medicine software.

No abstract