Designing Digital Therapeutic Content Using Chronic Disease Data: A Focus on Improving Urinary Dysfunction / 대한배뇨장애요실금학회지

In recent years, advancements in information and communication technologies, including artificial intelligence, big data, virtual reality, and augmented reality, have driven substantial growth in the field of digital medical diagnosis and treatment, thereby enhancing quality of life. Beginning in the mid-2010s with the advent of digital healthcare applications, and further accelerated by the impact of coronavirus disease 2019, digital therapeutic products have profoundly influenced society. Nevertheless, the expansion of digital therapeutics has encountered challenges associated with regulatory hurdles, differentiation from general digital healthcare, and the necessity for trustworthiness, which have contributed to a slower rate of progress. This study proposes a 3P content model–encompassing pre-education, prediction/diagnosis/treatment, and postmanagement–to increase the trustworthiness of digital therapeutics. The design of the 3P content model includes a fundamental structure that establishes networks with healthcare institutions, aiming to increase the reliability of data utilization and to facilitate integration with medical decision support systems. For case development, the study introduces a prototype of a mobile application that utilizes chronic disease urinary dysfunction data, demonstrating the cyclical structure inherent in the 3P content model.

Identification of Molecular Defects in Korean Patients with Marfan Syndrome

BACKGROUND AND OBJECTIVES: Marfan syndrome is an autosomal dominant heritable disease of connective tissue which is characterized by cardinal features mainly in the cardiovascular, ocular and skeletal systems. Aneurysms or dissections of the aorta are the major cardiovascular complications of the disorder causing early mortality. Mutations in the fibrillin-1 (FBN1) gene on chromosome 15q21.1 have been found to be major causes of Marfan syndrome. The purpose of this study was to characterize the molecular defect in Korean Marfan patients, thus contributing to the effort of correlating the genotype with the phenotype. SUBJECTS AND METHODS: We screened all 65 exons of the FBN1 gene in 14 subjects diagnosed as Marfan syndrome by the method of single strand conformation polymorphism-heteroduplex analysis. RESULTS: We found mutations in only 10 among 14 patients. This study identified 8 novel mutations and 2 previously reported mutations in 14 Korean Marfan patients. Two cases were nonsense mutations and 8 were missense mutations, including 3 frameshift. Seven cases of the mutations occurred in one of the 43 calcium binding epidermal growth factor-like domains within an FBN1 gene. Mutations in Marfan patients occurred variably over the whole field of this FBN1 gene. CONCLUSION: Our results will contribute to the establishment of a database of Korean Marfan patients. Extending this study and using the database will help early detection of the disease and prevention of complications.