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).
There are three types of osteopetrosis, each varies in its severity. The first type is called malignant infantile osteopetrosis. This type is the most severe. The next type is called mild autosomal recessive, or the intermediate type. This type is not as severe as the malignant form, but it can still have a lot of complications and symptoms. The last type is the autosomal dominant type or the adult type. This is the mildest version of the disease; indeed many with this type are asymptomatic (“Osteopetrosis,” 2008).
Malignant infantile osteopetrosis is autosomal recessive, present from birth, and the most severe form of osteopetrosis. Because this type is recessive, the disease does not manifest unless the person receives the same defective gene from the mother and the father. If both parents are carriers for the recessive gene, there is a 25% chance that a child will be infected with the malignant form of osteopetrosis (“Osteopetrosis,” 2008). The gene that is responsible for this disease is located “on the long arm of chromosome 11 (llq12-q13)” (“Osteopetrosis, p. 4).
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...rieved November 27, 2011, from http://aafp.org
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Kolb, M.D., A. E. (n.d.). What is Osteopetrosis?. Mason Shaffer Foundation || Save a Life ... Donate Cord Blood. Retrieved November 27, 2011, from http://masonshafferfoundation.org
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Stocks, M.D., M. S., Wang, M.D., W. C., Thompson, M.D., J. W., Stocks, M.D., M. C., & Horwitz, M.D., E. M. (n.d.). Malignant infantile osteopetrosis. Archives of Otolaryngology—Head & Neck Surgery, a monthly peer-reviewed medical journal published by AMA. Retrieved November 27, 2011, from http://archoto.com
Osteoporosis comes from the latin word meaning “porous bone”. If you were to look closely at a bone you could see there are these small spaces on the bone which is good, now if you look at someone who suffers from osteoporosis you will see these spaces are much larger. As these spaces become larger it takes away from the strength and integrity of the bone making it grow weak and thin. Osteoporosis is most common in women over the age of 50 and gives them a higher risk of fractures and or breaks especially common in the hips. While we know osteoporosis comes from a number of things it can be broken down to age, the hormonal changes most commonly seen in menopause and a lower intake of Vitamin D and Calcium. Age is the unpreventable factor that doctors or you cannot change. Hormonal changes can be fixed with supplements or hormone therapy along with ones intake of Vitamin D and Calcium. Hormone therapy, estrogen alone or the combination of estrogen and progestin have been proven to prevent and aide in the treatment of osteoporosis in
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...
The gene which is responsible for this disease, FGFR3, is located on chromosome 4 at 16.3, which is on the short arm near the telomere (4). Under normal circumstances, this gene forms fibroblast growth receptor 3 which interacts with a protein to begin a stream of signals that contribute to bone development and maintanence; it is also thought that this gene is also important in other tissue development (6, 7, 10-12). Some of the known pathways involved with FGFR3 are STAT1/3, STAT5, MEK1, ERK1, and MAP kinase signaling. Chondrogenesis and osteogenesis are two processes managed by these pathways and are greatly affected by a mutation (13-15). The sections of these pathways that involve and are affected by the mut...
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
There are many different diseases that can affect our skeletal system and Osteoporosis is one of them. Osteoporosis lessens bone strength and bone density (amount of bone mineral in bone tissue), which will lead to fragile bones. It mainly affect the hips, ribs, spine, and wrists. Male or female, at any age, can get this but it is mostly occurs in older women (Team, 2016). Osteoporosis is very common, there are more than 3 million cases a year. There are many causes/risk factors, symptoms, and some treatment cases. About 54 million Americans have Osteoporosis and low bone mass (Foundation, 2016).
The genetic bone disorder, which has no cure, causes scar-like tissue to develop in place of normal bone, affecting the bone and causing it to deform or fracture, according to the Mayo Clinic. The boy's left arm and leg were the first place they discovered a problem.
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 decreased 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, and aerobics.
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
SPECIFIC PURPOSE: To inform my audience on what osteosarcoma is, how it is treated, and Zach Sobiech’s story.
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.
At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase. Specifically, it replaces the amino acid
Bone cancer can be hereditary even though it is a “rare type of cancer,” (McCoy 1). There are six different types of bone cancer including “Osteosarcoma, Chondrosarcoma, Ewing sarcoma, Fibrosarcoma, Giant cell tumor, and Chordoma.” (McCoy 1) Each type of bone cancer specifies different locations in the body. Bone cancer is either called “primary (starts in bone tissue) or secondary (it traveled to the bone from another area of the body),” (McCoy 1) “The main cause of bone cancer is unknown”, according to McCoy, but “genetics play a major role in some cases” (McCoy 1). Symptoms to watch out for this type of cancer include “deep bone pain severe enough to wake you up, fever or night sweats, pain at the tumor location, unexplained weight loss,
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.