An Open Medical Platform to Share Source Code and Various Pre-Trained Weights for Models to Use in Deep Learning Research

Deep learning-based applications have great potential to enhance the quality of medical services. The power of deep learning depends on open databases and innovation. Radiologists can act as important mediators between deep learning and medicine by simultaneously playing pioneering and gatekeeping roles. The application of deep learning technology in medicine is sometimes restricted by ethical or legal issues, including patient privacy and confidentiality, data ownership, and limitations in patient agreement. In this paper, we present an open platform, MI2RLNet, for sharing source code and various pre-trained weights for models to use in downstream tasks, including education, application, and transfer learning, to encourage deep learning research in radiology. In addition, we describe how to use this open platform in the GitHub environment. Our source code and models may contribute to further deep learning research in radiology, which may facilitate applications in medicine and healthcare, especially in medical imaging, in the near future. All code is available at https://github.com/mi2rl/MI2RLNet.

RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia / 임상소아혈액종양

One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis. Runt-related transcription factor 1 (RUNX1) binds to its heterodimeric partner, core binding factor beta (CBFβ), and forms a core binding factor that regulates the expression of various target genes. The association between RUNX1 germline mutations and familial platelet disorder with associated myeloid malignancy was first reported in 1999. Although this disease has various phenotypes and penetration, the most common symptom is a bleeding tendency due to thrombocytopenia and platelet dysfunction. Myelodysplastic syndromes or acute myeloid leukemia may also develop in 35-40% of cases. We identified a heterozygous mutation in the RUNX1 gene using diagnostic exome sequencing in an adolescent with chronic thrombocytopenia.The patient will be followed continuously for hematologic malignancies that may develop in the future. This case illustrates the importance of diagnosing inherited thrombocytopenia to provide adequate follow-up for hematologic malignancies and reduce unnecessary treatment.