Orthopedics

About Brittle Bone Disease

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Though there are many types of this bone disorder, it is generally called osteogenesis imperfecta (OI) or “Lobstein syndrome.” It is a connective tissue disease that hinders the body’s ability to destroy improper collagen, thus causing the actual chemistry of the bone to be altered.  In a normal bone, collagen fibrils and hydroxypatite crystals react in one way.  With brittle bone disease, the relationship between the two is changed, and it causes the bone to be brittle.

There are eight different classifications of brittle bone disease, identified separately either because of the gene where the mutation occurs, or because of the presentation of symptoms.

Type I occurs when the collagen produced is of normal quality, but not of sufficient quantity.  The characteristics of Type I are loose joints, spinal curvature, poor muscle tone, blue-gray whites of the eyes, eye protrusion, and bones that break easily.

In Type II OI, there is not enough collagen produced, and that is produced is of insufficient quality.  This is much more serious, and most sufferers of Type II die within the first year of their life.  The lungs do not develop properly, causing the infant to die of respiratory problems.

In Type III, there is a sufficient amount of collagen produced, but it is defective.  The characteristics of Type III OI are spinal curvatures, short stature, a barrel-shaped rib cage, triangular face, moderate to severe bone deformity, and easily fractured bones.  Respiratory problems are also possible with Type III OI.  The eye discoloration, loose joints, and poor muscle tone are also characteristic of Type III.

In Type IV OI, enough collagen is produced, it is not necessarily defective, but it is of insufficient quality to form healthy bones.  The characteristics of this type of the disease are similar to Type I and Type III, only the muscle tone is not necessarily poor and the joints are not necessarily loose.

In Types V, VI, VII, and VIII, the actual structure of the bone differs, or the mutated gene is different, but the characteristics can be similar to that Type IV.   In Type V the bone appears “mesh-like” under a microscope, whereas Type VI presents a “scale-like” appearance of the bone. In Type VII OI, the mutation occurs in the gene CRTAP, rather than COL1A1 or COL1A2 like in Types I, II, III, and IV.  Studies have shown that Type VII, thus far, has only been found in the Aboriginal First Nations people of Quebec.   Type VIII OI occurs in the gene LEPRE1.  There is no known cure for OI, but many clinical trials have been performed with little success.

Avoid the Hospital This Summer

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Summer is a time when you want to spend all of your time outside by pool, grilling, on the beach and doing all the other fun “summer” things. What you don’t want to spend time doing is taking your kids to the hospital because of an injury. With all of the outdoor, physical activities that go on during the summer months, pediatric injuries increase dramatically.

One of the most common injuries during the summer comes from falls. Whether kids are jumping on a trampoline or playing on the playground, hospitals see a lot of kids come in with broken bones and deep cuts from falling. To avoid a trip to the hospital, make sure there is supervision while kids are on a trampoline or playground. Also, try to find a playground that has mulch or rubber tire instead of just blacktop. This can go a long way in avoiding serious injury from a fall.
Another frequent cause of injury for kids comes from riding their bicycle. During summer vacation kids tend to spend a lot of time outside on their bikes. While this is a great form of exercise, it is important to take some safety precautions to avoid serious injury. Most injuries from bicycles are to the arms and legs but the most serious are to the head. When your kids take their bikes out make sure they always wear a helmet. Also be sure that your kids know the proper hand signals and always walk their bikes across busy streets or intersections.

While the weather is hot, a lot of people will spend time by the pool or at the beach. Near-drownings become a serious problem during the summer. Many people may not realize that a person can drown in mere inches of water. To avoid injury, or even worse – death, it is important that parents always supervise their kids while they are in the water. A strong recommendation that could possibly save a child’s life is for all parents to become CPR certified. Also, be sure that children wear proper flotation devices while enjoying the water. A few steps in safety can go a long way in making sure you have a fun, injury free summer!

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