Research Paper On Osteogenesis Imperfect

Most types of connective tissue contain fibrous strands of the protein collagen that add strength to connective tissue. Some examples of connective tissue include the inner layers of skin, tendons, ligaments, cartilage, areolar, adipose bone and fat tissue. In addition to these more recognizable forms of connective tissue, blood is also considered a form of connective tissue.

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.

58) Connective tissues that possess a large quantity of collagen fibers often provide the framework for organs such

DOI: 5/5/2015. Patient is a 53-year-old male engineer who sustained injury while lifting a 10 inches long steel bracket when he felt a pull in his lower back.

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

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

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,

The second type of tissue found in the body is connective tissue. They lie beneath the epithelial tissue helping to connect different part of the internal structure, the cells are more widely separated from each other then in epithelial tissue. The intercellular substance known as the matrix is found in considerably large amounts. Within the matrix there are usually fibres which may be a jelly like consistency or dense and rigid depending on the type, function and positioning of the tissue. Theses fibres form a supporting system for cells to attach to. The major functions of connective tissue are to transport materials, give structural support and protection. The types of connective tissue that will be explained are blood, bone, cartilage, bone, areolar tissue and adipose tissue.

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

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal

Osteogenesis Imperfecta, also known as brittle bones disease, is a disease that was found in ancient Egypt. A mummified infant’s skeleton is now housed in the British Museum in London (Bhandari 2008). Many symptoms occur when a person has the disease which varies from mild to severe depending on the person. Symptoms include malformed bones, a short small body, weakness in muscles, curved spine, hearing loss, and a triangular face. Also, the sclera, or the whites of the eyes look gray or purple. To diagnose Osteogenesis Imperfecta or OI for short, doctors look at medical history, family history, x rays, as well as doing a physical exam. OI has no cure, but the symptoms of the disease can be managed. Some treatments for OI may be pain medication,

About one quarter of all the protein in your body is collagen. It is a major structural material that forms molecular cables to strengthen the tendons and resilient sheets that support the skin and internal organs. Bones and teeth are made by adding mineral crystals to collagen. Collagen provides structure to our bodies, protecting and supporting the softer tissues and connecting them with the skeleton. But, in spite of its critical function in the body, collagen is a relatively simple protein.

Overall, articular cartilage is a very dense structure, lacking blood vessels and nerves that are found in other tissues77. Chondrocytes are the cell types embedded within cartilage, and produce the structural proteins that form the ECM. The major components of the ECM are water, type II collagens, proteoglycans, aggrecan, and noncollagenous proteins such as fibronectins115,22. The resulting osmotic pressure created within the wet and dry components of the ECM work in harmony to support the mechanical forces applied to cartilage77. The water is retained in the ECM by aggrecan, the primary structural proteoglycan which is based on a long hyaluronic acid backbone with highly charged glycosaminoglycan (GAG) side chains, such as chondroitin sulfate (CS) and keratin sulfate (KS)26. Altogether, these components are what create the depth dependent layers of cartilage: the superficial zone, the middle zone, the deep zone, and the calcified zone (Figure

Collagen is the most important protein in your body. There is over a dozen types of collagen found in the human body, as well as animals. The 5 main types that are commonly noticed are types 1, 2, 3, 5, and 10. Over 90 percent of the body is made up of type 1 collagen, which is the most prolific type of collagen found in the human body. There are a variety of different forms and functions of collagen, from head to toe of the human body. Collagen aids I the boost of metabolism, energy output of the body, protects cardiovascular health, as well as many other aspects of health in the human body.

Since the beginning of 20th century, collagen has been reviewed extensively in studies and researches. Collagen is the most abundant protein in vertebras and signifies 30% of the proteins in the body. The composition of collagen is manifested in various parts of the body like bone, skin, cartilage and blood vessel. Collagen fibre is the main structure in extracellular matrix contributing great assistance in maintaining the integrity of cells and tissues structures. The major functions of collagen include the provision of strength and elasticity, along with maintaining rigidity. Till date, 28 types of collagen have been identified and they are classified into few sub-group. A number of factors distinguish a collagen from another such as morphological characteristics, molecular compositions, distributions, and functions. Of all types of collagen, type I collagen is the most abundant form and is responsible for substituting 90% of the body’s collagen. In view of the important of collagen type I collagen in human body structures and functions, the aim of this paper is to provide in-depth information about type I collagen post-translational modification process, and diseases that are governed by it.