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Fibrodysplasia ossificans progressiva essay
Fibrodysplasia ossificans progressiva essay
Fibrodysplasia ossificans progressiva essay
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History
The history of the disease can be traced over two hundred and eighty-one years ago to the first medical record of fibrodysplasia ossificans progressiva characteristics mentioned. As stated in Kaplan research in Fibrodysplasia ossificans progressiva: an historical perspective, the disorder was first clearly described in a letter to The Royal Society of Medicine dated 14 April 1736, by London physician John Freke (Kaplan, 2005, pp. 179). In keeping with Kaplan’s research, John Freke reported a healthy teenage boy came into the hospital with large swellings on his back that began around the age of three. Furthermore, the teenage boy was noted as having swellings that arose from the vertebrae of his neck to his sacrum, and the entire rib cage appeared to be joining together in all parts of his back. Over the next hundred years, several similar medical cases were reported from all
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Physicians were baffled by the disease, and needed to establish better knowledge, prevention, and treatment for their patients.
Physical Characteristics The first physical characteristics of fibrodysplasia ossificans progressiva at birth are typically malformations of the great toe or fingers. The example in Figure 1 demonstrates the classic FOP characteristic hallux valgus, which is the inward turning of the great toes. It is stated by National Organization for Rare Disorders (NORD), these abnormalities in the great toe will be shorten, a malformed distal first metatarsal, and missing or abnormal interphalangeal joint. Furthermore, NORD explained there are pre-osseous soft tissue swellings that begin in early childhood with FOP patients. These flare-ups and swellings as seen above in Figure
Just 25 miles south of San Francisco, on the southern end of Crystal Springs Lake, lies Fioli, a spectacular historic Georgian mansion and estate surrounded by 654 acres of park land, 16 of which are designed as formal gardens adjacent to the home. It offers professionally guided or self-guided tours to the public 6 days a week and makes a wonderful day trip from San Francisco or Santa Cruz for anyone interested in history, architecture or gardening.
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).
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...
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
James Parkinson. It’s not certain how long the disease has existed but its probably been around
Today doctors can treat this disease with minimal efforts, however, during the 14th century very few weren’t sure on how this disease actually spread and therefore didn’t know how to treat it. Physicians used to practice crude and unorthodox techniqu...
to the disease. Many people who knew nothing about medicine used this as an opportunity to get
The first historical account of muscular dystrophy was identified by Sir Charles Bell in 1830. He wrote about a disease that caused weakness in boys that progressively got worse. In 1836 another scientist whose name is unknown reported about two brothers who developed muscle damage, generalized weakness. Also damaged muscle was replaced with fat and connective tissue. At the time the symptoms were thought to point to tuberculosis. During the 1850s reports of boys with progressive muscle weakness became more and more common. There were also reports of these boys losing the ability to walk and dying at an early age. In the next decade French neurologist Guillaume Duchenne gave and in depth account of 13 boys who had the most common ...
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
While scientists worked to find a cure, policyholders that conducted legislative procedures were defining and enacting the problem; policies were designed to isolate sick patients as prevention of the further spread of the disease.
The secret to providing the right treatment for potentially serious, health conditions is early diagnosis. Normally, the sooner patients
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.
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.
Bones were covered in soft material, cellular; the disease was growing quickly on bones. Scientists discovered, the ash from volcanoes, has chocked them to death and Bruno Jabage was the cause of this, samples of ash