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Related Concept Videos

Fractures: Bone Repair01:27

Fractures: Bone Repair

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Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the...
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Bone Disorders01:29

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
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Related Experiment Video

Updated: Feb 27, 2026

An Efficient and Reproducible Protocol for Distraction Osteogenesis in a Rat Model Leading to a Functional Regenerated Femur
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Long-term follow-up in osteogenesis imperfecta type VI.

P Trejo1, T Palomo1, K Montpetit1

  • 1Shriners Hospital for Children and McGill University, 1003 Boulevard Decarie, Montreal, Québec, H4A 0A9, Canada.

Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
|July 10, 2017
PubMed
Summary

Osteogenesis imperfecta type VI patients treated with bisphosphonates showed improved bone density and height. However, fractures and scoliosis persisted, indicating a need for better treatments for this rare bone disorder.

Keywords:
Bone mineral densityChildrenFracturesOsteogenesis imperfectaPigment epithelium-derived factor

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Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Endocrinology
  • Orthopedics

Background:

  • Osteogenesis imperfecta (OI) type VI is a rare, severe bone fragility disorder.
  • It is caused by recessive mutations in the SERPINF1 gene.
  • Understanding long-term outcomes and treatment efficacy is crucial.

Purpose of the Study:

  • To describe long-term outcomes in patients with Osteogenesis imperfecta type VI.
  • To compare clinical phenotypes associated with different SERPINF1 mutations.
  • To evaluate the effectiveness of bisphosphonate treatment.

Main Methods:

  • Retrospective chart review of 13 individuals with OI type VI.
  • Analysis of bone mineral density (BMD), final height z-score, and vertebral body reshaping.
  • Comparison of outcomes based on treatment timing and type.

Main Results:

  • Untreated patients showed no increase in lumbar spine BMD during childhood, with growth stalling after 6-8 years.
  • Intravenous bisphosphonate treatment increased lumbar spine BMD and improved vertebral body shape.
  • Early bisphosphonate treatment (before age 6) correlated with greater final height.
  • Lower extremity fractures and scoliosis remained common despite treatment.
  • Denosumab substitution for bisphosphonates showed no clear clinical change.

Conclusions:

  • Intravenous bisphosphonate treatment improves bone density and height in OI type VI patients.
  • Despite treatment, significant fracture burden and skeletal deformities persist.
  • More effective therapeutic strategies are needed for Osteogenesis imperfecta type VI.