Osteogenesis Imperfecta Essay

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

Because of this decrease, bone diseases like osteoporosis, osteopenia, and arthritis. Osteoporosis is when the bones become more brittle, the mass decreases which makes bones more likely to break. Osteoporosis is more common in women but increases the likeliness the older the body is for both men and women. “As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis” ("Osteoporosis: MedlinePlus.”). Osteopenia is the same as osteoporosis in the sense that the bones become brittle and bones are more likely to break and the mass decreases, but not as much of the mass as osteoporosis. Osteopenia is “low bone mass that is not low enough to be osteoporosis” ("Osteoporosis: MedlinePlus.”). “Bone mass or density is lost as people age, especially in women after menopause” ("Osteoporosis: MedlinePlus.”). Arthritis is a condition that generally affects the bone and tissues surrounding the bone. There are two main types of arthritis: osteoarthritis and rheumatoid arthritis. Osteoarthritis is aging in any joint on the body. When the bones in a joint are worn down, they begin to rub against each other. The rubbing from the two bones in a joint is what causes the severe pain and inflammation. Rheumatoid arthritis involves many joints mainly in the wrists, fingers, thumbs, elbows, feet, ankles, and knees. When the lining of the joints diminishes, pain and stiffness make mobility hard on the

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,

What is osteoporosis exactly? Literally, osteoporosis means “porous bone”. Derived from oste/o, meaning bone, and –porosis, meaning the condition of being porous. It is an imbalance between bone resorption and bone formation. Clinically defined as a disorder characterized by compromised bone strength leading to an increased risk of fracture (Lane, 2006). Normal bone structure includes an extracellular matrix with mineralized and non-mineralized components, which gives the bones their mechanical properties, as well as collagen and mineralized osteoid cells. Calcium concentration is extremely important is determining the compressive strength of the bone (Bethel, 2015). The structure of bone in an individual with osteoporosis has lost mineralization and collagen due to a decrease in the production of these components as a result, the bones become porous and brittle. Bone is living tissue, constantly being broken down and reformed through out life. Derived from

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

Osteogenesis imperfecta can range from mild to severe and the symptoms are different in each person, and category of the disease. Some of the symptoms that could manifest the people who suffer osteogenesis imperfecta are malformations of the bones, short stature and small body, loose joints, weak muscles, curved spine, brittle teeth, respiratory problems, failures of collagen type 1, lack of collagen, and deafness (). In addition, height is often to be normal. Fractures are not usually present at birth but appear when the patient begins to walk and falls to the ground during the growth period. Usually, the frequency of fractures decreases in adulthood, where hearing loss may

My disease diary is growth plate fracture. The growth plate or the epiphyseal plate also

Osteoclasts break down bone tissue during the remodeling of bones. The malignant infantile form happens when an infant inherits a copy of the defective gene from both of the parents. For the adult form to occur, however, only one defective gene is necessary. Most of the time, however, the inherited gene is not what causes osteopetrosis. Normally the adult form is caused by a newly formed defective gene that came about at the time of

There are two types of osteoporosis that have been identified which are primary and secondary. Osteoporotic bones are thin and brittle and are prone to fracture. The bone loss involves both compact and spongy bone. In type I osteoporosis, which occurs typically in postmenopausal women, spongy bone loss predominates, occurring most prominently in the vertebrae and distal radius (Gueldner, Burke, Smiciknas-Wright, 2000). Major complications of type I osteoporosis are crush fractures of the vertebral bodies and the distal end of the radius. Type II, or old-age, osteoporosis is characterized by a proportional loss of compact and spongy bone of the long bones (Gueldner, Burke, Smiciknis-Wright). The most serious fractures of old age are those of

     Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.

Vitamin intake is a commonly overlooked necessity in basic nutritional health. What most people do not know is that certain vitamin deficiencies can cause many health risks and problems. Many people believe that are getting all the vitamins they need from their diet, however most of the time they are not. One of the most common vitamin deficiencies is the low intake of Vitamin D. There are some vitamins that are produced by the body such as vitamin K; however some of the most important vitamins are not produced by the body. Vitamin D is one of the vitamins that our body needs to function correctly that is not naturally produced by the body. Vitamin D can be consumed through

Have you ever watched a video from the kid president? Do you know the character named Brick in the show “The Middle”? The boys who star in these shows both have something in common. They have osteogenesis imperfecta (OI). It is also known as brittle bone disease or Lobstein syndrome. OI causes the bones to be so brittle that even small movements or impacts can cause a break. These breaks are what often causes the diagnosis to come about. It can also cause the whites of a person’s eyes to turn blue and can cause hearing loss. It’s obvious that the condition can also cause chronic pain, bone deformity, small stature, spinal curvature and depression.

The major defect in Osteomalacia is a deficiency of activated vitamin D , which promotes calcium absorption from the gastrointestinal tract and facilitates mineralization of bone.