Victor McKusick of Johns Hopkins University School of Medicine,who is considered the father of Medical Genetics. Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition of congenital skeletal malformation and progressive heterotopic ossification (HO), is the most catastrophic disorder of (HO) in humans. FOP causes immobility through progressive metamorphosis of skeletal muscle and soft connective tissue into a second skeleton of heterotopic bone. FOP is extremely rare with a worldwide prevalence of approximately one in a two million.
There appears to be no ethnic, racial, gender or geographic predisposition. When observed, genetic transmission is autosomal dominant and can be inherited from either mother or father. Clinical features that define FOP patients are malformation of the great toes; and progressive HO in specific spatial patterns. There are two different type of FOP atypical and classic. FOP patients appear normal at the time of birth except for the characteristics malformation of the great toes which are present in all affected patients.
During the first decade of life, children with FOP develop painful and highly inflammatory soft tissue swellings (or flare-ups) that transform soft connective tissues, including aponeuroses, fascia, ligaments, tendons and skeletal muscles, into an armament like encasement of bone. Ribbons, sheets and plates of heterotopic bone replace skeletal muscles and connective tissues through a process of endochondral ossification that leads to permanent immobility.
The Essay on Osteoporosis Patient Bone Unmet
# Osteoporosis Osteoporosis affects millions of people in the United States. The most affecting age group are postmenopausal women and the elderly. As many as 32% of women and 17% of men up to the age of 90 will suffer at least one fracture of the hip, spine, wrist, or other susceptible bone attributable to osteoporosis (Pamela W McCoy, Dec 2001). Osteoporosis is a condition in which the bone ...
Minor trauma such as intramuscular immunizations, mandibular blocks for dental work, muscle fatigue and blunt muscle trauma from bumps, bruises, falls or influenza – like illness can trigger painful new flare-ups of FOP leading to progressive HO. Patient with atypical form of FOP have been described. Surgical attempts to remove heterotopic bone commonly lead to episodes of explosive and painful new bone growth. Classic FOP is caused by a recurrent activating mutation in the gene ACVR1/ALK2 encoding Activin A receptor type I , a bone morphogenetic protein (BMP) type I receptor.
FOP is commonly misdiagnosed as aggressive juvenile fibromatosis, lymphedema or soft tissue sarcomas. If clinical suspicion of FOP early in life on the basis of malformed great toes can lead to early clinical diagnosis and the avoidance of harmful diagnostic and treatment procedures to the patient; however plain x-rays can substantiate the presence of HO. Experts believe that 80% or more of the cases are misdiagnose and its prevalence may be much higher than known causing a great deal of pain and suffering for FOP patients and their families. At present, there is no cure for FOP.
A high-dose corticosteroids treatment is indicated as first-line treatment within the first 24 hours of a flare-up. Most patients with FOP are required lifelong assistance in performing activities of daily living to prevent falls and avoid high-risk circumstances. For patients all the restriction of activity compromises their independence and result unacceptable on most cases, but due to the progressive immobility and severe weight loss may result following ankylosing of the jaw, as well as pneumonia and right-sided heart failure from thoracic insufficiency syndrome FOP patients need assistance.
The lifespan of a patient with FOP is approximately 40 years of age and commonly die of complications of thoracic insufficiency syndrome. “Cause and cure” have always been the guiding principles in FOP research, while the mutation that causes classic FOP has been discovered, much work still remains to discover the exact genetic, cellular and molecular mechanism by which this mutation leads to the complex disease phenotype of skeletal malformations and use that knowledge to develop effective treatments and eventually a cure.
The Term Paper on Mrs Jackson Patient Treatment Doctor
The case of Dr. Lowell and Mrs. Jackson revolves around a conflict between the doctor, who advocates the implementation of a particular treatment and the patient who disagrees with the doctor and wishes to do things her own way. The doctor feels that the suggested course of action is disastrous and threatens to have the patient declared mentally incompetent. The question now is whether or not the ...
The FOP gene discovery gives people with FOP great hope for the future. UCSF Benioff Children’s Hospital http://www. ucsfbenioffchildrens. org/conditions/fibrodysplasia_ossificans_progressiva/ International Fibrodysplacia Ossificans Progresiva Association http://www. ifopa. org/what-is-fop/history-of-fop. html National Center for Biotechnology Information http://www. ncbi. nlm. nih. gov/pmc/articles/PMC2424023/
