Publications by authors named "Ebba A E Ghyczy"
Article Synopsis
- - Osteogenesis Imperfecta (OI), or "brittle bone disease," is a rare genetic disorder that causes fragile bones and potential deformities due to defects in collagen type I, requiring comprehensive care throughout a patient's life stages.
- - Treatment primarily focuses on supportive measures, including medications like bisphosphonates and various orthopedic surgeries, which have shown positive results, especially in children, but there is a notable lack of guidelines for adults transitioning from pediatric care.
- - A systematic review of existing literature emphasizes the need for a multifaceted approach by various medical specialists to enhance the transition from pediatric to adult care for OI patients, stressing the importance of education, personalized plans, and ongoing follow-up.
Article Synopsis
- - Osteogenesis imperfecta (OI) is a genetic disorder affecting collagen type I, leading to fragile bones and a heightened risk of eye diseases due to collagen's role in various eye tissues.
- - The sclera, which contains a significant amount of collagen type I, is crucial for eye structure and has a unique fiber arrangement that may provide support to the optic nerve; however, the effects of abnormal collagen on this tissue are not fully understood.
- - This study used polarization-sensitive optical coherence tomography (PS-OCT) to analyze collagen fiber orientation in the sclera near the optic nerve in individuals with OI compared to healthy individuals, showing that the orientation patterns were similar between the two groups.
Purpose: Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI.
View Article and Find Full Text PDFIn the field of rare bone diseases in particular, a broad care team of specialists embedded in multidisciplinary clinical and research environment is essential to generate new therapeutic solutions and approaches to care. Collaboration among clinical and research departments within a University Medical Center is often difficult to establish, and may be hindered by competition and non-equivalent cooperation inherent in a hierarchical structure. Here we describe the "collaborative organizational model" of the Amsterdam Bone Center (ABC), which emerged from and benefited the rare bone disease team.
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