Osteogenesis Imperfecta Jayson Garcia
Eng 102
April 29th 2016
APA Medical Paper
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
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Not all attributes are obvious for every situation. The lion's share of instances of OI (conceivably 85-90 %) are created by a predominant change in a quality coding for sort I collagen (Types I, II, III, and IV in the accompanying rundown). Sorts VII and VIII are recently recognized structures that are acquired in a passive way. The qualities bringing about these two sorts have been recognized. Sorts V and VI don't have a sort 1 collagen change, however the qualities bringing about them have not yet been recognized. The general components of each referred to sort of OI are as per the …show more content…
Most breaks happen before puberty.Some of the cases in regards to this careful sort present typical or close ordinary stature. Additionally some different cases may demonstrate different qualities, for example, free joints ,muscle weakness,sclera (whites of the eyes) for the most part have a blue, purple, or dark tint,triangular face.Tendency toward spinal ebb and flow might be the reason for the bone disfigurement missing or insignificant bended back shape, fragile teeth is likewise conceivable because of the shortcoming of all .
Listening to misfortune is conceivable, regularly starting in mid 20s or 30s.Collagen structure is ordinary, yet the sum is not as much as should be expected. All cases exhibit a little sum missing of collagen that is the reason the greater part of the general population in this cases present twisting in body structure
Sort II
Most serious structure with regards to Osteogenesis Imperfecta , the greater part of these cases are endless in great conditions, which means the vast majority of the cases wind up in premature birth by the guardians or unnatural birth cycle by nature . In any case, a portion of the uncommon cases that do survive present breathing challenges much of the time deadly at or soon after birth, regularly because of respiratory
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).
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.
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
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).”
But after the early stage, your bones may become weak. These signs include: back pain, shortness of breath, shrinkage in height and bad, irregular posture. Many people don’t start showing signs until they have broken a bone, such as a wrist bone or a hip bone. There are two different types of Osteoporosis. There is Juvenile Osteoporosis (which is very rare), it occurs in children that is due to medication or medical conditions. Premenopausal Osteoporosis which happens to older women before menopause. There are three different ways to check for Osteoporosis. The first one is a painless bone density scan called a dual energy X-ray absorptiometry (DXA) (Stang, 2016). The second one is a digital x-ray radiogrammetry (DXR), it is like the DXA but uses less technology. And the last one is ultrasounds. Ultrasound scans are also used to screen for osteoporosis but it is not able to get a good reading like the others, so this method isn’t used as often. If you break a bone the doctor will try these types of x-ray to see if it was caused by
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
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.
a baby ranging from low birth weight and abnormalities to death. There are a few government
Scoliosis is a progressive disease. In its early stages a mild rotation and rib deformity is detected. As it progresses more vertebrae rotate, causing the ribs to crowd together on one side of the chest and to spread apart on the opposite side. The disease is usually first identified in persons 10 to 17 years old. Most cases occur in girls and become apparent during the rapid growth phase of puberty. Conditions also include shoulder unleveling, waistline discrepancies, acute headaches, shortness of breath, rib hump, chronic fatigue, and mood swings.
There are three different types of kyphosis; postural kyphosis, Scheuermann's kyphosis, and congenital kyphosis. It’s estimated that these affect 4-8% of the general population. Postural kyphosis is the most common and is usually noticed around adolescence. It is brought on by poor posture causing weakening in the muscle and ligaments. In this kyphosis the vertebrae is shaped correctly and there is not much of a noticeable curve. It is easily corrected by reversing muscular imbalances.
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.
In its nature, collagen is like the backbone of the skin and is responsible for its elasticity and structure. It’s also responsible for replacement of dead skin cells with new ones giving the skin a radiant
Children with orthopedic problems might born with disability or acquire problems with their joints, bones or muscles later in life. Orthopedic problems can be the result of diseases, deformities, surgeries or injuries the child may face in life. Some genetic or birth problem that a child can face that would be consider an orthopedic issues would be, osteogenesis imperfect, cerebral palsy, spina bifida, muscular dystroph...