Examinando por Autor "Salinas Calle, Jennifer Estrella"
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- ÍtemAcceso AbiertoDiagnóstico y manejo de la Osteogénesis Imperfeta(Universidad Católica de Cuenca., 2023) Salinas Calle, Jennifer Estrella; Capote Llanares , Miguel Ángel; 0350198099Background: Within genetic diseases, osteogenesis imperfecta, also known as brittle bone disease, is among those of the skeletal system with low frequency. It is a condition that disrupts the integrity and quality of collagen networks forming the bone matrix, making individuals prone to bone deformities and fractures. The significance of this work lies in enhancing medical students' understanding of diseases with strong physical and psychological implications; additionally, it aims to broaden their knowledge of the diagnosis and treatment of genetic diseases associated with the osteoarticular system, preparing them for future professional practice. Objective: To analyze diagnostic and therapeutic methods for osteogenesis imperfecta through a comprehensive literature review, to disseminate current guidelines of this disease within the medical community. Methodology: This work is a qualitative literature review project with a descriptive scope; various digital medical databases will support it to explore publications from 2019-2023. Conclusions: Osteogenesis imperfecta is emphasized as a potentially highly disabling disease for the patients and their families. Diagnosis involves a combination of clinical evaluation, personal and family history, laboratory tests, and imaging studies. Treatment requires a multidisciplinary approach involving a specialized medical team with expertise in diverse areas.