Kids that are diagnosed with Marfan syndrome can not play sports or do exercise, which makes them feel left out and different from the other kids, which also makes the parents feel angry, sad, and guilty because they gave there child this disease. The most serious problem with Marfan syndrome is the weakness of the wall of aorta. People with Marfan syndrome should have regular eye exams beginning at an early age near. The name of my disease is Marfan Syndrome. It is also known as Marfan's. Antoine marfan discovered it in 1896. It's found in both genders, and all ethnic groups. Marfan syndrome is an Autosomal Dominant disorder.
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Doctor Marfan described these findings as spider like impressions, which is still viewed today in the majority of Marfan syndrome patients. The mother of his first patient noticed her daughter was born with many abnormalities at birth and she became increasingly curious as her daughter got older. After studying this patient,. Marfan Syndrome by jordan Martinez this disease is interesting to me because i have a friend diagnosed with this disease. If you take a quick glance at him you could detail tell that he has unusual body features. These are conditions to being diagnosed with Marfan syndrome. The conditions and features applied with Marfan syndrome. They are tall, skinny they have long toes and fingers they have a dent on their chest. Marfan syndrome is a connective tissue disorder that is defective and does not act as it should. Marfan syndrome can also affect many other body systems the heart, lungs, skin, blood vessels, and nervous system. Marfan syndrome is caused by a defect (mutation) in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue.
The understanding of Marfan syndrome has evolved over the pdf past few decades. Many diseases are named after the primary researcher or the person who discovered the disease and proclaimed medical notifications of the disorder. It is named after a french pediatric practitioner. Antoine bernard jean Marfan. Doctor Marfan was the first doctor to record his findings and make publications of the syndrome in 1896. Marfan discovered the disorder in the late 1890s while studying a five year old pediatric patient. He noticed her fingers and toes were very thin and unusually elongated for her age.
Because connective tissue is such an important part of your body, marfan syndrome may disrupt development and function in several sites. Most common are professional your heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. Marfan syndrome is caused by a dominant gene, which means one of your parents also has the gene and passed it to you. The severity of the disease will vary depending on writing the type of mutation, which affects the production of a protein call fibrillin. Marfan syndrome 1 the discovery of marfan syndrome biology 1 Marfan syndrome page 2 During this past spring semester we have covered many systems of the body in biology. Covering the endocrine system I learned of a disorder called Marfan syndrome that affected former president Abraham Lincoln.
This disease is typically diagnosed through genetic testing of the blood and the identification. Marfain Syndrome: causes and Effects Essay. Antoine, marfan (1858-1942) was a french physician who became interested in pediatrics when he deputized for a colleague at Paris's Hospital for Sick Children in the late 1800s. It was in the course of his clinical studies in 1896 that he described the main features of a syndrome that later was given his name. Later observers noted that Marfan's patients are often tall and thin, with a long and narrow face, and may have a curved spine and a protruding or sunken breastbone. Most serious, it was found that the heart valves in Marfan's patients tend to leak, and the aorta-the body's largest artery-tends to enlarge and may suddenly and fatally burst. Marfan syndrome is an inherited disorder that affects connective tissue, which supports your organs and other structures in your body.
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The principal features affect the cardiovascular system, eyes and skeleton. This condition affects the connective protein that forms the structural support for tissues outside the cell. This disease is a result plan of a faulty makeup of chromosomes. Marfan, syndrome ) is an autosomal-dominant disorder, only one copy of a faulty gene is necessary to cause manifestation of the trait (Polzin, 2005). Recent advances and further development in the study of genetics have traced this disease to certain gene mutations.
The most common being the fibrillin and tgfbr1 (Transforming Growth Factor, beta receptor 1) genes. Without early detection and attentive surveillance of mfs, mortality and morbidity increase significantly. In washington the article written by Elizabeth Gonzales, she discusses diagnostic criteria, genetic factors, and emerging theories of mfs. The article discusses the prevalence of the disease and reports that it affects about 1 in 10,000 people. It is equally common in all ethnicities, social classes, and countries (.
Production of abnormal fibrillin-1 monomers from the mutated gene disrupts the formation of multiple polymers of fibrillin-1 and. Marfan Syndrome research Paper.2012 Strong Externally, weak internally There was a high debate and many aweing theories arguing if Abraham Lincoln had a disorder called. Marfan syndrome or not, which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine neoplasia type. Contributing to the dispute. Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the journal of the American Medical Association which diagnosed Abraham Lincoln that he had. However, his conclusions were eventually proven wrong.
But despite the false accusations, marfan syndrome does exist in this world. Marfan syndrome faces the real risks and threats which contain devastating consequences. For example, a hard blow to the upper chest can result in immediate death because the connective tissues are alarmingly weak which can lead to serious heart complications and internal bleeding (Schnitzer 198). Abnormalities in the skeleton, heart, and eyes all contribute to the characterization. Marfan syndrome (Schnitzer 198). Any affected or damaged connective tissues can create or cause internal complications, especially concerning with the heart and the aorta (. Marfan, syndrome which is the most serious life. Marfan, syndrome, wesley thompson Jim Hutchins biomedical Core 1110 november 19, 2011. Marfan syndrome is a variable, autosomal-dominant disorder in the connective tissue with distinct physical characteristics.
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It is distributed worldwide, has a high prevalence rate and has pleiotropic manifestations, meaning one gene influences multiple traits that do not seem to be related. Mutations of the fbn1 gene on the 15th chromosome (more specifically chromosome 15q21.1) cause. The fbn1 gene is coded to make a glycoprotein called fibrillin-1. This protein is an essential component of microfibrils that are major structural and regulatory components in the extracellular matrix (Keane pyeritz, 2009,. Fibrillin-1 binds to other fibrillin-1 proteins and also to other molecules to form threadlike filaments called microfibrils. These microfibrils constitute the structural components of the suspensory ligament of the lens and serve gps as bases for elastin in the aorta and other connective tissues Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. These are not just critical to structural formation, but they also store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body.
Currently there is no cure for Marfan Syndrome, however geneticists are attempting to further expand their knowledge of both the fibrillin gene, and the specifics of the syndrome? S occuring mutations, so in the future they will be able to more decisively identify marfans for quicker life treatment, and possibly one day arrive at a cure. Apa, mla, chicago, marfan syndrome. Retrieved 20:22, july 17, 2018, from. M, (December 31, 1969). m, ml (accessed July 17, 2018). You may also find These documents Helpful. Marfans, syndrome, marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait.
may be detected through a routine ultrasonography. A prompt diagnosis of Marfan Syndrome in infants can facilitate management and counseling for an affected individual, and usually result in a much longer, more comfortable life. Following diagnosis of Marfan Syndrome, there are several different ways in which doctors go about treating the different symptoms of the disease. In general, afflicted individuals are cautioned not to partake in rigorous activities such as contact sports, or heavy lifting, as the danger of the increased blood pressure could lead to the sudden splitting of the aorta, the number one cause of death. Regular checkups, including heart tests and aorta examinations using ultrasound also help to detect early problems before they become life-threatening. Medication for high blood pressure, called beta blockers, are also prescribed to patients with Marfans to help reduce strain on the aorta, the march Of Dimes Birth Defects foundation, 1993). In the case of aortic dilation an operation can be performed in which the faulty valve, along with a section of the aorta, is replaced with an artificial valve attached to a four-inch synthetic tube. For symptoms such as spinal curvature braces can be implemented, for crowded teeth, an orthodontal work. And for cases of a detached retina, individuals have the option of corrective laser surgery.
Ocular attributes of affected individuals include myopia, increased axial globe length, corneal flatness, and subluxation of the lenses (ectopia lentis). And cardiovascular features include mitral valve prolapse, mitral regurgitation, dilatation of the aortic root, and aortic regurgitation. As to date, there is no single conclusive test to diagnose marfan Syndrome. Doctors familiar with the syndrome? S symptoms may successfully diagnose. Marfan following testing of the heart, aorta, eyes, or other body parts, however due to both the diversity of the symptoms and their range in severity, its detection is often difficult. In a study performed on young infants, in which Marfan was successfully diagnosed within the first three months, it assignment was found that serious cardiac pathology may be present at birth, often with congenital contractures present as well, (Morse,1990). Some other findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses.
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Marfan Syndrome Essay, research Paper, marfan Syndrome is an autosomal dominant disorder, affecting approximately one in ten-thousand people. Its affects both males and females equally, and is equally prevalent in all races. About one in four affected individuals are the result of new mutations, however in most cases the syndrome is inherited from one parent with the disorder. In 1991 the cause of Marfan Syndrome was traced to a defective gene on chromosome. This gene, with normal functioning, tells the body to produce fibrillin, a protein and an essential component of connective tissue the march Of Dimes Birth. All occurrences of Marfan Syndrome are thought to be the result of a mutation of the fibrillin-1 gene (omim entry 154700) with the varying afflictions hypothesized to be the result of alterations in the synthesis, secretion, or matrix incorporation of the molecule, (Mcgookey. The effects of Marfan Syndrome are located in the ocular, skeletal and cardiovascular systems of the body cummings, 1998). Syndrome shows pleotrophism and clinical variability, there are several commonalities among phenotypes of affected individuals. For the skeletal system these include increased height, disproportionately long limbs and digits, anterior chest deformity, mild to moderate joint laxity, vertebral column essays deformity (scoliosis and thoracic lordosis and a narrow, highly arched palate with crowding of the teeth.