publicaciones
El principal objetivo de la Fundación AHUCE es la promoción de la investigación en osteogénesis imperfecta y la correcta difusión de la información científica. En esta sección podrás consultar las investigaciones en curso y acceder a las últimas publicaciones científicas. No dudes en ponerte en contacto con el equipo de la Fundación AHUCE si quieres ampliar la información.
Investigaciones en curso
Eficacia de la terapia de ACT en formato grupal para el dolor crónico en personas con displasias óseas.
Desde la Fundación AHUCE vamos a iniciar un nuevo estudio de investigación. Queremos comprobar la eficacia de una terapia psicológica en formato grupal dirigida a mejorar la convivencia con el dolor crónico en personas adultas con una displasia ósea.
Diversas investigaciones coinciden en que el dolor crónico es una experiencia frecuente en las displasias óseas, relacionandose con un descenso en la calidad de vida, interfiriendo en las actividades del día a día.
La terapia psicológica ha demostrado ser beneficiosa para las personas con dolor. Concretamente, la terapia ACT ha obtenido el reconocimiento de terapia empíricamente validada para el tratamiento del dolor crónico.
Si tienes una displasia ósea y experimentas dolor habitualmente, podrás participar en el estudio.
Para más información, puedes acceder al díptico informativo en este ENLACE, o contactar en el correo psicologia.fundacion@ahuce.org.
Para inscribirte y poder participar en los grupos, accede a este ENLACE.
Publicaciones científicas en las que ha participado la Fundación AHUCE
Assessment of bone mineral density by fractal dimension in OI patients treated with bisphosphonates. Burgueño-Torres L, García-Boedo L, de Nova-García MJ. Assessment of bone mineral density by fractal dimension in OI patients treated with bisphosphonates. BMC Oral Health. 2025 Aug 23;25(1):1367. doi: 10.1186/s12903-025-06687-8. PMID: 40849484; PMCID: PMC12374446.
Eruptive Process in Children with Osteogenesis Imperfecta. Garcete Delvalle CS, De Nova García MJ, Mourelle Martínez MR. Eruptive Process in Children with Osteogenesis Imperfecta. Calcif Tissue Int. 2025 Feb 7;116(1):37. doi: 10.1007/s00223-025-01345-1. PMID: 39918583.
The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study. Elfituri AA, De Nova MJ, Najirad M. The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study. Orphanet J Rare Dis. 2024 Mar 8;19(1):108. doi: 10.1186/s13023-024-03096-y. Erratum in: Orphanet J Rare Dis. 2024 Apr 18;19(1):166. doi: 10.1186/s13023-024-03186-x. PMID: 38459573; PMCID: PMC10921673.
Influence of zoledronic acid and pamidronate on tooth eruption in children with osteogenesis imperfecta. Del Rio Cantero N, Mourelle Martínez MR, Sagastizabal Cardelús B, De Nova García JM. Influence of zoledronic acid and pamidronate on tooth eruption in children with osteogenesis imperfecta. Bone. 2024 May;182:117069. doi: 10.1016/j.bone.2024.117069. Epub 2024 Mar 6. PMID: 38458305.
Root resorption of primary molars and dental development of premolars in children with Osteogenesis Imperfecta medicated with bisphosphonates, grouped according to age and gender. Garcete Delvalle CS, De Nova García MJ, Mourelle Martínez MR. Root resorption of primary molars and dental development of premolars in children with Osteogenesis Imperfecta medicated with bisphosphonates, grouped according to age and gender. BMC Oral Health. 2024 Jul 28;24(1):857. doi: 10.1186/s12903-024-04557-3. PMID: 39069613; PMCID: PMC11283712.
Application of Orthopantomography in the Analysis of Bone Mineral Density in Patients with Osteogenesis Imperfecta. García-Boedo, L., Burgueño-Torres, L., & de Nova-García, M. J. (2024). Application of Orthopantomography in the Analysis of Bone Mineral Density in Patients with Osteogenesis Imperfecta. Applied Sciences, 14(5), 1954. https://doi.org/10.3390/app14051954.
Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta. Infante A, Alcorta-Sevillano N, Macías I, Cabodevilla L, Medhat D, Lafaver B, Crawford TK, Phillips CL, Bueno AM, Sagastizabal B, Arroyo M, Campino A, Gerovska D, Araúzo-Bravo M, Gener B, Rodríguez CI. Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta. Biomed Pharmacother. 2024 Jun;175:116725. doi: 10.1016/j.biopha.2024.116725. Epub 2024 May 13. PMID: 38744219.
Analysis of Craniocervical Abnormalities in Osteogenesis Imperfecta during Growth. De Nova-García, M. J., Sola, R. G., & Burgueño-Torres, L. (2024). Analysis of Craniocervical Abnormalities in Osteogenesis Imperfecta during Growth. Applied Sciences, 14(4), 1640. https://doi.org/10.3390/app14041640.
SEM/EDS Analysis of Tubules and Mineral Deposition in the Dentin of Children with Osteogenesis Imperfecta. Martín-Vacas, A., Vera-González, V., Ramírez-Castellanos, J., González-Gil, D., & de Nova García, M. J. (2023). SEM/EDS Analysis of Tubules and Mineral Deposition in the Dentin of Children with Osteogenesis Imperfecta. Applied Sciences, 13(22), 12451. https://doi.org/10.3390/app132212451
Influence of the Severity of Osteogenesis Imperfecta on Cranial Measurements. De Nova-García MJ, Sola RG, Burgueño-Torres L. Influence of the Severity of Osteogenesis Imperfecta on Cranial Measurements. Children (Basel). 2023 Jun 8;10(6):1029. doi: 10.3390/children10061029. PMID: 37371261; PMCID: PMC10297655.
Exploring the relationship between personality and chronic pain in adults with osteogenesis imperfecta: A cross-sectional study Muñoz Cortés R, Soriano Pastor JF, Monsalve Dolz V. Medicine (Baltimore). 2023 Sep 29;102(39):e35352. doi: 10.1097/MD.0000000000035352. PMID: 37773867; PMCID: PMC10545165.
Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: A cross-sectional study Muñoz Cortés R, Soriano Pastor JF, Monsalve Dolz V. Medicine (Baltimore). 2022 Oct 7;101(40):e30256. doi: 10.1097/MD.0000000000030256. PMID: 36221335; PMCID: PMC9542837.
Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy. Martín-Vacas A, de Nova MJ, Sagastizabal B, García-Barbero ÁE, Vera-González V. Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy. Healthcare (Basel). 2022 Aug 2;10(8):1453. doi: 10.3390/healthcare10081453. PMID: 36011110; PMCID: PMC9408206.
Evaluation of the Severity of Malocclusion in Children with Osteogenesis Imperfecta. De Nova-García MJ, Bernal-Barroso F, Mourelle-Martínez MR, Gallardo-López NE, Diéguez-Pérez M, Feijoo-García G, Burgueño-Torres L. Evaluation of the Severity of Malocclusion in Children with Osteogenesis Imperfecta. J Clin Med. 2022 Aug 19;11(16):4862. doi: 10.3390/jcm11164862. PMID: 36013101; PMCID: PMC9410483.
Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life. Alcorta-Sevillano N, Infante A, Macías I, Rodríguez CI. Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life. Int J Mol Sci. 2022 Dec 22;24(1):184. doi: 10.3390/ijms24010184. PMID: 36613624; PMCID: PMC9820162.
Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy. Infante A, Cabodevilla L, Gener B, Rodríguez CI. Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy. Front Cell Dev Biol. 2022 Feb 9;10:830928. doi: 10.3389/fcell.2022.830928. PMID: 35223854; PMCID: PMC8865676.
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: Infante A, Gener B, Vázquez M, Olivares N, Arrieta A, Grau G, Llano I, Madero L, Bueno AM, Sagastizabal B, Gerovska D, Araúzo-Bravo MJ, Astigarraga I, Rodríguez CI. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial. Clin Transl Med. 2021 Jan;11(1):e265. doi: 10.1002/ctm2.265. PMID: 33463067; PMCID: PMC7805402.
Cutting Edge Endogenous Promoting and Exogenous Driven Strategies for Bone Regeneration. Macías I, Alcorta-Sevillano N, Infante A, Rodríguez CI. Cutting Edge Endogenous Promoting and Exogenous Driven Strategies for Bone Regeneration. Int J Mol Sci. 2021 Jul 20;22(14):7724. doi: 10.3390/ijms22147724. PMID: 34299344; PMCID: PMC8306037.
Deciphering the Relevance of Bone ECM Signaling. Alcorta-Sevillano N, Macías I, Infante A, Rodríguez CI. Deciphering the Relevance of Bone ECM Signaling. Cells. 2020 Dec 7;9(12):2630. doi: 10.3390/cells9122630. PMID: 33297501; PMCID: PMC7762413.
A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. Ríos-Rodenas M, de Nova J, Gutiérrez-Díez MP, Feijóo G, Mourelle MR, Garcilazo M, Ortega-Aranegui R. A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. J Clin Exp Dent. 2015 Feb 1;7(1):e153-8. doi: 10.4317/jced.52126. PMID: 25810828; PMCID: PMC4368004.
Otras publicaciones científicas
Current situation of osteogenesis imperfecta in Spain: results from a Delphi study. Sagastizabal, B., Calvo, I., Martínez-Ferrer, À. et al. Current situation of osteogenesis imperfecta in Spain: results from a Delphi study. Orphanet J Rare Dis 19, 239 (2024). https://doi.org/10.1186/s13023-024-03248-0
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers. Westerheim, I., Hart, T., van Welzenis, T. et al. Orphanet J Rare Dis 19, 128 (2024). https://doi.org/10.1186/s13023-024-03126-9.