Imperfect Osteogenesis: Between Fiction and Reality
Abstract Feature films have been used as a striking learning tool in the field of health, this because certain diseases that are usually rare within the population lend themselves to developing a story based on them. Imperfect Osteogenesis also known as crystal bone disease, is a fairly diverse genetic disorder, although 90% of cases present with autosomal dominant inherited mutations, the remaining 10% corresponds to autosomal recessive mutations or of unknown cause. In the present work we have generated a compilation of relevant aspects about this disease correlating with the plot of two cinematographic works, Fragile and The Protected; this in order to analyze it as a possible tool for learning about this disease and other pathologies of a genetic nature.
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Folkestad L. Mortality and morbidity in patients with osteogenesis imperfecta in Denmark. Danish. Medical. J. 2018;65(4):1–51.
Folkestad L, Hald J, Canudas V, Gram J, Hermann A, Langdahl B, et al. Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study. J. Bone. Miner. Res. 2016;31(12):2159–2166.
Domaradzki J, Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?. Orphanet. J. Rare Dis.2022;17(1): 1-12.
Cevallos-Solórzano G, Villamagua León V, Aguirre-Fierro R, Jaramillo Suquilanda E, Chicaiza González K, Bravo Pinzón D, Bailon-Moscoso N. Mi hija, mi vida / tu vivras ma fille (2018) de Gabriel Aghion, de la medicina familiar a la biotecnología. Rev. Med. Cine. 2022;18(1):15–27.
Ike G, Anderson N. A proposal for teaching bioethics in high schools using appropriate visual education tools. Philos. Ethics. Humanit. Med.2018;13(1):1-5.
Cevallos Solórzano S, Celi Herrera M, Calva Morquecho N, Guayanay Calva Y. Virus (2013): el cine como una herramienta en la docencia, con aproximaciones médicas y moleculares. Rev Med Cine, 2021; 17(3):207-214.
Tauer JT, Robinson ME, Rauch F. Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research. JBMR Plus. 2019;3(8):1–10.
Steiner R, Basel D. COL1A1/2 Osteogenesis Imperfecta [Internet]. GeneRev®. 2021.
Marini J. Osteogénesis imperfecta. En Nelson Tratado de Pediatría 21ª Ed. Elsevier España; 2020. pp 4004–4011.
Subramanian S, Viswanathan V. Osteogenesis Imperfecta. StatPearls. 2021.
Sam J, Dharmalingam M. Osteogenesis Imperfecta. Indian. J. Endocrinol. Metab. 2017;21(6):903–908.
Herreros M, Franco R, Ascurra M. Las Osteogenesis imperfectas: revisión del tema. Pediatr. (Asunción). 2008;35(1):33–37.
Song Y, Zhao D, Li L, Lv F, Wang O, Jiang Y, et al. Health-related quality of life in children with osteogenesis imperfecta: a large sample study. Osteoporos Int. 2019;30(2):461–468.
Shapiro J. Osteogenesis imperfecta and other defects of bone development as occasional causes of adult osteoporosis. London: Academic Press. 2021. pp. 1175–1215.
Folkestad L. Mortality and morbidity in patients with osteogenesis imperfecta in Denmark. Danish. Medical. J. 2018;65(4):1–51.
Folkestad L, Hald J, Canudas V, Gram J, Hermann A, Langdahl B, et al. Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study. J. Bone. Miner. Res. 2016;31(12):2159–2166.
Domaradzki J, Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?. Orphanet. J. Rare Dis.2022;17(1): 1-12.
Cevallos-Solórzano G, Villamagua León V, Aguirre-Fierro R, Jaramillo Suquilanda E, Chicaiza González K, Bravo Pinzón D, Bailon-Moscoso N. Mi hija, mi vida / tu vivras ma fille (2018) de Gabriel Aghion, de la medicina familiar a la biotecnología. Rev. Med. Cine. 2022;18(1):15–27.
Ike G, Anderson N. A proposal for teaching bioethics in high schools using appropriate visual education tools. Philos. Ethics. Humanit. Med.2018;13(1):1-5.
Cevallos Solórzano S, Celi Herrera M, Calva Morquecho N, Guayanay Calva Y. Virus (2013): el cine como una herramienta en la docencia, con aproximaciones médicas y moleculares. Rev Med Cine, 2021; 17(3):207-214.
Coronel-Hidalgo , J., Torres-Galarza, A., Quitama-Guaman, G., Vásquez-Villavicencio, N. E., & Bailón-Moscoso, N. (2023). Imperfect Osteogenesis: Between Fiction and Reality. Journal of Medicine and Movies, 19(2), 123–133. https://doi.org/10.14201/rmc.28826
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