martes, 24 de abril de 2012

Saving Sydey's Bones From Breaking | Medical News and Health Information

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Saving Sydey's Bones From Breaking | Medical News and Health Information

Saving Sydey's Bones From Breaking -- Research Summary

BACKGROUND:  Osteogensis Imperfecta (also known as "brittle bone disease") is a genetic condition that is characterized by fragile bones that break easily.  People who have OI often experience fractures, muscle weakness, hearing loss, joint laxity, fatigue, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature.  Contrary to the myth that OI is caused by lack of calcium or poor nutrition, OI is actually caused by a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues.  There are 8 different types of OI and those who have a mild case can experience a few fractures, but those who have a more severe case can have hundreds of fractures in a lifetime.

FACTS TO KNOW:  The number of Americans affected with OI is thought to be 25,000-50,000.  The range is so wide because mild OI often goes undiagnosed.  Approximately 35% of children with OI are born into a family with no family history of OI. Most often this is due to a new mutation to a gene and not by anything the parents did before or during pregnancy (Source:

COMMON SYMPTOMS:  All patients with OI have weak bones, which makes them susceptible to fractures.  Classic symptoms include blue tint to the white part of the eye, hearing loss, loose joints, flat feet, and multiple bone fractures.  Symptoms in patients with a more severe case of OI include Scoliosis (S-curve spine), Kyphosis, and bowed legs and arms.

AVAILABLE TREATMENT:  There is not yet a cure for this disease, but there are available therapies to help reduce pain and complications.  Bisphosphonates are drugs that have been used to treat osteoporosis. They have proven to be very valuable in the treatment of OI symptoms, particularly in children. These drugs can increase the strength and density of bone in persons with OI. They have been shown to greatly reduce bone pain and fracture rate.  Also low impact exercise, like swimming, can help keep muscles strong and maintain strong bones.  People who have more severe cases may have to get surgery that places metal rods into the long bones of the legs to strengthen the bone and reduce risk of fracture (Source: ). 

TELESCOPING RODS:   A problem among children who have a severe case of OI and have to undergo surgery is that they are outgrowing the metal rods that are inserted to reinforce the bone.  A new device called telescoping rods grows with the patient.  The rod is inserted through multiple small incisions, usually around an inch long.  The procedure is recommended for children who have curved bones or who continually break long bones.  It does not always prevent fractures, but the rod will provide an internal splint that can reduce the risk of displacement of the bone.  The procedure allows the patient to be more active after a break occurs and it prevents prolong periods of inactivity and casting.  The Fassier-Duval rod system, approved by the US Food and Drug Administration (FDA) in 2005, is the newest telescopic rod on the market.  It was invented by an orthopedist with extensive experience caring for children with OI.   It was designed to allow for a less invasive surgery and therefore a quicker recovery (Source:  MORE

Saving Sydey's Bones From Breaking -- Research Summary | Medical News and Health Information

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Saving Sydey's Bones From Breaking -- In Depth Doctor's Interview | Medical News and Health Information

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