There are many well-known disabilities and osteogenesis imperfecta is not one of them. Thus, this disability will be the topic of my investigation. Although osteogenesis imperfecta, also known as brittle bone disease, is not a widely-known condition, having knowledge on this rare condition will be helpful in case I encounter a child or adult with this condition. By having knowledge on rare conditions like osteogenesis imperfecta, better care and understanding can be provided to someone who is encountering this condition. All children and families deserve patience, understanding, and knowledgeable teachers, regardless if a child’s disability is well-known or not. Osteogenesis imperfecta refers to “…a genetic disorder characterized by bones …show more content…
It usually inherited through an “…autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition” (NIH). Sometimes, the genes are mutated as well. The specific genes that are mutated are, “…the COL1A1 and COL1A2 genes…which are responsible for more than 90 percent of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body” (NIH). The severe lack of collagen causes the bones to become very, very fragile. There are also rare cases of OI where the specific affected gene(s) remain unknown. Although there are some answers to the cause of osteogenesis imperfecta, some cases remain undetermined and doctors are still researching …show more content…
I determined that they were credible because they are peer-reviewed, government endorsed and funded, they provide information for doctors and other medical providers, and the sources are written solely by doctors knowledgeable about osteogenesis imperfecta. I also briefly looked at the Osteogenesis Imperfecta Foundation website. This was another credible source because the website stated that the National Institutes of Health helped write and prepare the “Fast Facts on Osteogenesis Imperfecta” page. I found these resources after looking up “osteogenesis imperfecta” on a search
Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases. I will discuss the general symptoms of these two types along with pathology, then diagnostic factors, and the different treatments for this disorder (Smith).
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...
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 involves 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- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
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
Imagine living in a world where everything is super-sized. Imagine having to step on a stool to crawl into bed, or having to climb onto a shelf to be able to reach a light switch. Most of all, imagine having to look up to your much taller younger sister when she speaks to you. Situations like these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday.
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.
Osteogenesis imperfecta is classified by type. In 1979, Dr. David Sillence developed this classification system. Sillence’s system is based upon method of inherit...
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,
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
Osgood-Schlatter disease (OSD), a condition that affects preadolescent children, was first described concurrently by Robert Osgood, a US orthopedic surgeon, and Carl Schlatter, a Swiss surgeon in 1903 (Cakmak). Defined as a separation of the tibial tubercle apophysitis from the proximal end of the tibia, OSD appears in girls between the ages of 8 to 14 and with boys 10 to 15 (Kaya). The incidence of OSD is believed to occur in 21% of adolescents who play sports while non-athletes report only 4.5% (Kabiri). Factors such as the early involvement of children in sports, increased pressure to perform at the highest level, and decreased time between sport seasons are all factors which can lead to stress and overuse injuries (Kabiri). Recently OSD
Rickets is a bone disorder found in children that causes the bones to soften and weaken before the fusion of the growth plate. The adult version of this disease is called osteomalacia. In both adults and children it is caused by a long term and extreme vitamin D deficiency. Vitamin D allows for calcium and phosphorous to be absorbed from the gastrointestinal tract which is necessary for bones to have their mechanical properties. In children Rickets can result in bone pain, slow growth, increase risk of fractures and bone deformities, such as scoliosis, bowed legs, and thickening of the ankles, wrists, and knees.
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.
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
Osteoporosis is a disease in which the bones become so weak and brittle that even a cough can cause enough stress on the bone that it will cause the bone to facture. The most commonly broken bones are the hip, wrist, and the spine. Although it affects men and women of all races, post-menopausal Caucasian and Asian women are more commonly affected than those of other ethnicities and sexes. In fact, thirty percent of all post-menopausal women in the US and Europe will be diagnosed with Osteoporosis and at least 40 percent of those will suffer from a fracture in their lifetime.