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- Laine, Christine M., et al.
(författare)
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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- 2013
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 368:19, s. 1809-1816
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Tidskriftsartikel (refereegranskat)abstract
- This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T -> G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C -> A, p.Ser295(star). In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.
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- Tuomi, J, et al.
(författare)
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A novel classification and online platform for planning and documentation of medical applications of additive manufacturing
- 2014
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Ingår i: Surgical innovation. - : SAGE Publications. - 1553-3514 .- 1553-3506. ; 21:6, s. 553-559
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Tidskriftsartikel (refereegranskat)abstract
- Additive manufacturing technologies are widely used in industrial settings and now increasingly also in several areas of medicine. Various techniques and numerous types of materials are used for these applications. There is a clear need to unify and harmonize the patterns of their use worldwide. We present a 5-class system to aid planning of these applications and related scientific work as well as communication between various actors involved in this field. An online, matrix-based platform and a database were developed for planning and documentation of various solutions. This platform will help the medical community to structurally develop both research innovations and clinical applications of additive manufacturing. The online platform can be accessed through http://www.medicalam.info .
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| 6. |
- Huotilainen, E, et al.
(författare)
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Imaging requirements for medical applications of additive manufacturing
- 2014
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 1600-0455 .- 0284-1851. ; 55:1, s. 78-85
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Tidskriftsartikel (refereegranskat)abstract
- Additive manufacturing (AM), formerly known as rapid prototyping, is steadily shifting its focus from industrial prototyping to medical applications as AM processes, bioadaptive materials, and medical imaging technologies develop, and the benefits of the techniques gain wider knowledge among clinicians. This article gives an overview of the main requirements for medical imaging affected by needs of AM, as well as provides a brief literature review from existing clinical cases concentrating especially on the kind of radiology they required. As an example application, a pair of CT images of the facial skull base was turned into 3D models in order to illustrate the significance of suitable imaging parameters. Additionally, the model was printed into a preoperative medical model with a popular AM device. Successful clinical cases of AM are recognized to rely heavily on efficient collaboration between various disciplines – notably operating surgeons, radiologists, and engineers. The single main requirement separating tangible model creation from traditional imaging objectives such as diagnostics and preoperative planning is the increased need for anatomical accuracy in all three spatial dimensions, but depending on the application, other specific requirements may be present as well. This article essentially intends to narrow the potential communication gap between radiologists and engineers who work with projects involving AM by showcasing the overlap between the two disciplines.
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