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Conclusion of osteogenesis imperfecta
Conclusion of osteogenesis imperfecta
Conclusion of osteogenesis imperfecta
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Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a heritable genetic disorder that affects the connective tissue and causes bones to break easily, normally without any discernible cause. Its name, “osteogenesis imperfecta,” literally means imperfect bone formation. There are eight forms of the disease that have been identified thus far, labeled Type I through Type VIII. Each form describes how severely the person with the disease is affected. For instance, Type I is the mildest form of the disease, while Types II, III, VII, and VIII are the most severe.
People with osteogenesis imperfecta have muscle weakness, loose joints, weak tissues, fragile skin, and bones that can easily be fractured. Mild OI can cause a person with the disease to experience only a few fractures, while someone with one of the severe or lethal forms of OI can experience hundreds of fractures during the span of their lifetime, leading to bone deformities. Sometimes fractures can even occur before birth. Adults and children diagnosed with the disorder are often short in stature, have triangular-shaped faces, and can have discoloration of the sclera of the eye. The sclera is a white tissue, but a person with OI may have a blue or grey sclera. Other symptoms include a curved spine, brittle teeth, frequent nosebleeds, breathing difficulties, and hearing loss that may begin during childhood or early adulthood.
Approximately 90% of all cases of OI have an autosomal dominant pattern of inheritance, meaning that someone only needs to inherit one copy of the abnormal gene from a parent in order to have the disease. These dominant forms of osteogenesis imperfecta are caused by a mutation in the COL1A1 or COL1A2 genes. These genes encompass th...
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...if.org/site/PageServer?pagename=RS_RecessiveOI
Fast facts. (n.d.). Osteogenesis Imperfecta Foundation . Retrieved March 20, 2014, from http://www.oif.org/site/PageServer?pagename=fastfacts
Osteogenesis imperfecta. (n.d.). WebMD. Retrieved March 20, 2014, from http://www.webmd.com/children/osteogenesis-imperfecta-11141
Osteogenesis imperfecta. (n.d.). Johns Hopkins Medicine. Retrieved March 21, 2014, from http://www.hopkinsmedicine.org/healthlibrary/conditions/adult/bone_disorders/osteogenesis_imperfecta_85,P00123/
Osteogenesis imperfecta. (2014, March 17). Genetics Home Reference. Retrieved March 20, 2014, from http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
Osteogenesis imperfecta: MedlinePlus medical encyclopedia. (2014, February 26). U.S National Library of Medicine. Retrieved March 22, 2014, from http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm
I will discuss the general symptoms of these two types along with pathology, diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified into symptoms and signs that result (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.
In order to study the gene mutation that is supposed to cause Paget’s Bone Disease researchers had to have viable candidates to host the gene mutation. They found the best candidate to host the gene mutation in mice so they implanted the gene mutation in embryos of mice offspring. The researchers hypothesized that p62P394L is sufficient to induce PDB, especially since the p62 gene is responsible for encoding 62 kDa protein which functions in signaling osteoclast precursors. Results were found by fixing the first through fifth lumbar vertebra of four, eight, and twelve month old homozygote, heterozygote and WT littermates in 10% buffered formalin for 24- 48 hours. The first through fourth vertebra were then completely decalcified while the fifth was not. Longitudinal sections of both decalcified and undecalcified vertebra were cut, mounted on glass slides and stained to analyze. The mice with p62P394L had histologically normal bones, indicating that p62 mutation is not enough to induce Paget’s disease of the bone in vivo, there are additional factors necessary. Knowing osteitis deformas is due to hyper responsive multinucleated osteoclasts, it seemed a sensible suggestion. However, there are many other variables that should be factored when considering possible causes for osteoclast hyperformation. If p62P349L is present, doesn’t necessarily mean a person will get PDB, though an environmental factor such as measles could easily open up transduction pathways that could eventually lead to pagetic bone lesions. We find this study to be a stepping stone for future researchers to use in order to actually identify what causes Paget’s bone disease. (Hiruma, Kurihara, Subler, Zhou, Boykin, Zhang, Ishizuka, Dempster, Roodman & Wi...
Hypophosphatasia is a rare genetic bone disorder characterized by osteoblast hyperactivity and bone remodeling with loss of, or incomplete, mineral deposition. It is comparable to osteomalacia and rickets, but maintains a unique set of characteristic identifiers (Mornet 2008; Brickley and Ives 2008). Also called, Rathbun’s Syndrome, hypophosphatasia can be autosomal dominant or autosomal recessive depending on the individual. Severe forms are usually transmitted as autosomal recessive with a recurrence risk of 25 percent, while milder forms can be transmitted as either autosomal dominant or autosomal recessive, with between 25-50 percent recurrence rates (Mornet 2008). Hypophosphatasia has an incidence rate of 1 in 100,000 live births (Brickley and Ives 2008; Wendling et al. 2001). In half of all cases, the condition is fatal.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involve the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood-
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Osteogenesis Imperfecta (OI) is a disease that is commonly referred to as brittle bone disease. Children with OI tend to have more fragile bones than children who are not affected and are very susceptible to bone fractures. With the correct support and proper management, the patient and their family can live relatively normal and happy lives.
Osteoporosis is a condition, which advances with age, resulting in fragile, weak bones due to a decrease in bone mass. Externally osteoporotic bone is shaped like normal bone, however it’s internal appearance differs. Internally the bone becomes porous due to a loss in essential minerals, including phosphate and calcium. The minerals are loss more quickly than they can be replaced and in turn cause the bones to become less dense and weak. The bones become prone to fracture, due to their weakness. Therefore the awareness of the disease tends to occur after a fracture has been sustained. The bones most commonly affected are the ribs, wrist, pelvis and the vertebrae.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
...a casein-free diet was 19.9ng⁄mL, for participants not on a casein-free diet it was 19.6ng⁄mL, and for controls it was 17ng⁄mL. There were no differences in the measurements of 25 (OH) D in all groups. About sixty-one percent, fifty-four children, had concentrations of less than 20ng⁄mL. This is the minimum concentration recommended by the American Academy of Pediatrics to ensure good bone health. These children could be at risk for problems associated with vitamin D deficiency. This includes concerns with bone health and calcium and phosphorus metabolism. Children with autism spectrum disorder are limited to what activities they can do and usually are not exposed to much sunlight causing them to be at a greater risk. Understanding the needs and taking preventive measures for children with autism will help reduce the risk of health problems as they enter adulthood.
The big picture. Where the two schools of medicine differ is in philosophy. Doctors of osteopathy "treat people, not just symptoms," says Karen Nichols, dean of the Chicago College of Osteopathic Medicine. "The course list looks exactly the same, but the M.D.'s focus is on discrete organs. The osteopathic focus is that all of those pieces are interrelated. You can't affect one with out affecting another." That means paying more than simple lip service to the idea of the "whole" patient: It means that diagnosis and treatment rely on an examination of a person's environment and family and general situation as well as his or her body. Not surprisingly, about 65 percent of the nation's 52,000 licensed osteopaths (by comparison, the country boasts at least 900,000 M.D.'s) are primary-care physicians. The American Association of Colleges of Osteopathic Medicine has a description of osteopathic training, as well as short profiles of 20 schools, at www.aacom.org. The D.O. programs and their contact information are listed in the directory section of this book.
Congenital defects also may have genetic bases, as in families who have extra fingers or toes or in the disease osteogenesis imperfecta, in which children have such brittle bones that many are fractured. Disorders of growth and development include several kinds of dwarfism and gigantism. Bones or limbs may develop deformity as the result of known causes, such as the infection poliomyelitis, or unknown or variable causes, such as curvature of the spine (SCOLIOSIS) or CLUBFOOT. Infections Infections of bone, called osteomyelitis, are usually caused by pus-producing bacteria, especially Staphylococcus and Streptococcus.
Osteopenia can be seen as beginning stage of osteoporosis. Osteopenia is classified when bone density is lower than normal but not so low that it can be classified as being osteoporosis. It can be caused by several different diseases, conditions, or may be something that is natural to the person who has it. It can also be caused by eating disorders, and metabolism disorders. Chemotherapy and medicines such as steroids are also known to be causes as well as being exposed to radiation.
Although your bones are usually very strong, they consist of living tissue that continually breaks down and rebuilds. As you age, it’s possible for old bone to break down faster than the building of new bone. Osteoporosis is a disease that occurs in the bones. The bones are part of the skeletal system which contains a total of 206 bones. Osteo means bones and porosis means porous. This disease causes the bones to become weak and brittle. Some victims of this disease are not aware that anything is wrong because in the beginning osteoporosis is subtle and painless until a bone breaks. According to (Gronholz, 2008) 30 million women and 10 million men, 50 years and older are diagnosed with osteoporosis in the United States. These people are at