Introduction
Osteogenesis imperfecta, also known as “brittle bones disease,” is a rare genetic disorder that affects the body’s production of type I collagen, which is the major protein of the body’s connective tissue. Generally, people affected with OI either have too little of type I collagen, or the quality of it is poor. Collagen defects account for about 85%.1 However, proteins in the bones may be affected in some of the more uncommon forms of OI. Because of this defect, people with OI have fragile bones, which break easily without an apparent cause.
Discussion
It is estimated that one out of 12,000 to 15,000 babies are born with OI.1 Males and females of all races and ethnicities are equally affected with OI. At this time, the exact number of Americans with OI is unknown, but the estimated range is between 20,000 and 50,000 people.2
Typically, the genetic defect is dominant and involves the COL1A1 and COL1A2 genes. There have been over 800 mutations of these genes discovered, and they are located on chromosomes 7 and 17.3 Because the majority of OI cases are from a dominant mutation, there is a 50% chance that a person with OI will pass it on to his or her children. Although, the majority of children with OI inherit the defective gene from one of their parents, the severity and symptoms can vary greatly between parents and their offspring. Sometimes, children with OI are born into a family with no history of the disorder. This percentage is approximately 35%.4 Estimates suggest that 7% of children with unexplained fractures have an underlying medical condition.
Osteogenesis imperfecta is classified by type. In 1979, Dr. David Sillence developed this classification system. Sillence’s system is based upon method of inherit...
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...Medication may also be given. The type of medication is called bisphosphonates, which are given by mouth or intravenously. Bisphosphonates reduce bone resorption. Studies are still being done on this treatment option. There is also research being done on possible stem cell treatment for OI.
Prognosis
Depending on the severity and number of symptoms, the prognosis for someone with OI can vary. The two most frequent causes of death for someone with OI are respiratory failure and accidental trauma. OI is a lifelong disease, but most adults and children tend to lead productive lives.
Conclusion
Osteogenesis imperfecta is a chronic disorder, and living with the condition can be stressful at times. However, those affected with OI tend to lead happy and successful lives. Unfortunately, the disorder is incurable. Hopefully, with continued research, a cure will be developed.
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...
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.
Osteoporosis is a condition, in which bones are weak from deterioration, loss of bone mass, and quality-bone strength. Osteoporosis usually triggers postmenopausal women (women who have not had their period for a whole year), or older men and women. Some risks both older men and women endure when experiencing Osteoporosis are decrease of calcium and bone fractures. These symptoms or effects can all be caused by weight loss, smoking, age, ethnicity, genetics, medications, bone structure, and certain diseases that can later on contribute to Osteoporosis, such as rheumatoid arthritis. Osteoporosis may be prevented by going to drug therapy to stop alcoholism and smoking, a sufficient amount of calcium intake, and exercising; such as jogging, walking,
Osteoporosis is a serious disease that leads to a faster than normal loss of the bone density, which puts the bone at a higher risk for fractures. In order to understand the causes of Osteoporosis, it is important to understand how bones are formed. Bone is a living tissue that is made mainly of collagen, calcium phosphate, and calcium carbonate. The mixture of collagen and calcium gives the bone strength and flexibility. The body deposits new bones and removes old ones; moreover, there are two types of bone cells that control the reproduction of bones. Cells called osteoclasts breakdown bone tissues thus, damaging the bone. Once the damaged bone is removed, cells called osteoblasts, use minerals including calcium and phosphate from the blood stream to make new healthy bone tissues. In order for osteoblasts and osteoclasts to work properly, hormones such us thyroid, estrogen, testosterone, and growth hormones are
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
The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
...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.
Osteogenesis imperfecta (OI) is commonly known as the brittle bone disease. Unlike most ailment, osteogenesis imperfecta is a rare disease that caused by genetic mutation. This certain disease cause the bones to be extremely fragile and fracture easily with little or no physical force, thus the common name “brittle bone.” Besides weak and fragile bones, people who have osteogenesis imperfecta have weak muscles and bone deformities. Osteogenesis imperfecta is not a simple genetic disease that have few symptoms; it have eight different types in which each type have different signs and symptoms. Type I, II, III, and IV are the most common type of osteogenesis imperfecta, the other four types, according to the website
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.
Fractures are life-threatening to aged people having the metabolic bone disease OSTEOPOROSIS, in which bones become porous and brittle. A person, mostly women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of some bones, often results in bone deformity; in addition, some girls with this disease physically mature so early that they are capable of pregnancy and childbirth at the age of seven.
Osteomyelitis is an infection of the bone or bone marrow. Osteomyelitis is a very destructive disease that affects the skeletal system. Most commonly affected bones of the skeletal system are the long bones. Osteomyelitis can be caused from a broken bone, or even from a hospital stay. The total prevalence of osteomyelitis in the general population is about 1 in 5,000 patients, while in newborns it is about 1 in 1,000. (Mantero) This paper will explain the types, causes, individuals at risk, signs and symptoms, diagnosis, treatment, and prognosis of osteomyelitis.
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.