Search results for "osteogenesis imperfecta"

Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand.

2018

Wnt signaling is important for proper embryonic development, shaping cell fate and migration, stem cell renewal, and organ and tissue formation. Here, Luther et al. investigated the role of Wnt1 in osteoporosis. Patients with early-onset osteoporosis and with WNT1 mutations had low bone turnover and high fracture rates, and loss of Wnt1 activity caused fracture and osteoporosis in mice. Inducing Wnt1 in bone-forming cells increased bone mass in aged mice, and this process did not require Lrp5, a co-receptor involved in Wnt signaling. This study identifies Wnt1 as an anabolic (bone building) factor and suggests that it might be a therapeutic target for osteoporosis.WNT1 mutations in humans a…

Association between ribs shape and pulmonary function in patients with Osteogenesis Imperfecta

2019

Graphical abstract

Hydroxylation of collagen type I: evidence that both lysyl and prolyl residues are overhydroxylated in osteogenesis imperfecta

1995

The composition of the collagens secreted into the media of fibroblast cultures of 39 patients with osteogenesis imperfecta (OI) was the same in controls and OI cultures. An abnormal migration pattern of collagens upon SDS-PAGE was evident in one third of the cultures investigated. Lysyl and prolyl hydroxylation of HPLC-purified alpha 1(I) chains was elevated in about 60% of cultures. The degree of hydroxylation was highest in the lethal forms. The extent of lysyl and prolyl hydroxylation showed a strong correlation (r = 0.74, P < 0.001). While high levels of hydroxylation are frequently observed in OI patients, a direct correlation between lysyl or prolyl hydroxylation and fracture rate or…

Outcome of COVID19 in Patients With Osteogenesis Imperfecta: A Retrospective Multicenter Study in Saudi Arabia

2022

BackgroundAlthough genetic diseases are rare, children with such conditions who get infected with COVID-19 tend to have a severe illness requiring hospitalization. Osteogenesis imperfecta (OI) is a rare genetic disorder of collagen resulting in fractures and skeletal deformities. Kyphoscoliosis, restrictive lung disease, and pneumonia worsen the prognosis of patients with OI. The use of bisphosphonate improves bone mineral density (BMD) and reduces fractures in OI. There is no literature describing the impact of COVID-19 in patients with OI.MethodologyA retrospective multi-center study was performed in three hospitals in Jeddah and Riyadh, Saudi Arabia, from March 1st, 2020, until August 31…

Pathological mandibular fracture after simple molar extraction in a patient with osteogenesis imperfecta treated with alendronate

2009

Osteogenesis imperfecta (OI), is a heterogeneous group of inherited disorders of connective tissue characterized by bone fragility. Patients with this disease frequently suffer fractures, over 80% of the extremities due to the more intensive mechanical load. Fractures of the facial bones occur very infrequently. Several studies have proved that bisphosphonate therapy may be effective in reducing fracture risk in OI patients. We report here an unusual case of pathological mandibular fracture following simple molar extraction in an adult patient with OI type I and oral alendronic acid treatment. Extraction was atraumatical and without bone removal . Fracture was treated by internal fixation b…

Sonographic diagnosis of lethal osteogenesis imperfecta in the second trimester: case report and review.

1986

Implant-supported fixed prostheses in a Patient with Osteogenesis Imperfecta : a 4-year follow-up

2017

Osteogenesis Imperfecta (OI) is a rare autosomal dominant connective tissue disorder in wich, the bone quality and density is affected. OI includes some metabolic disorders and have a wide range of clinical presentations. In Osteogenesis Imperfecta bone has a very low density and it is a disorder currently treated with bisphosphonates. Quality and quantity of bone is important for establishment of osseointegration in dental implants. There are few reported cases in the literature. This is a case report of a 61 year-old man with grade IV OI, rehabilitated with implant-supported fixed prostheses in the posterior right and left mandible, whithout bone grafts. At the 4-year follow-up, clinical …

Osteogénesis imperfecta y educación física: Un caso inédito de inclusión educativa

2018

The main objective of this work is to investigate the inclusive treatment experienced by a student with Osteogenesis Imperfecta and their peers in an undergraduate course with contents related to physical education. Data collection was performed over a semester through informal conversations with the lecturer, in depth and semi-structured interviews, and an open-response questionnaire. The study reveals the stigma suffered by the student, both personal and academic (especially in physical education classes), and the ignorance and insecurity demonstrated by future teachers about this disease and how to perform an inclusive treatment in their classes. The adjustments made by the lecturer of t…

Osteogenesis imperfecta and hyperplastic callus formation: light- and electron-microscopic findings.

1993

In rare cases of osteogenesis imperfecta, an "overshoot" growth of new bone may occur, which, clinically gives the impression of a tumour. This condition is known as hyperplastic callus formation. Morphology showed an excessive mixed desmal-chondral osteoneogenesis. Atypical collagen fibrils in non-callus tissue represent an indicator for this callus formation in individual patients.

Die intraoperative Hyperpyrexie bei Osteogenesis imperfecta-Betroffenen

2000

The aim of this study was to evaluate the influence of different types of anesthesia upon the intra- and postoperative body temperature in osteogenesis imperfecta patients. The development of an intraoperative hyperpyrexia of unknown origin is a typical phenomenon in patients with osteogenesis imperfecta. Body temperatures of up to 40 degrees C are known to complicate the operation. Therefore, in a retrospective study, the pre-, intra- and postoperative body temperature curves of 45 operations under different anaesthesias were measured. Group A underwent a common balanced anaesthesia with the volatile anaesthetic Enfluran in combination with Fentanyl, while group B was operated on under tot…