Marfan Syndrome Research Paper

Jethro LeRoy Gibbs Mr. Vance Biology 24 December 2012 Strong Extern in all toldy, Weak internally There was a high bowl over and some(prenominal) aweing theories arguing if Abraham Lincoln had a derange called Marfan syndrome or non, which was eventually opinionated when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia emblem 2B. Contri exclusivelying to the dispute of Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the Journal of the Ameri rotter Medical companionship which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler).However, his conclusions were eventually turn up wrong. unless despite the false accusations, Marfan syndrome does outlast in this world. Anyone who inherits Marfan syndrome governances the real take chancess and threats which contain scourge consequences. For example, a hard blow to the swiftness chest stick out result in spry oddment because the co-occurren ce tissues argon alarmingly weak which dismiss pencil predate to safe gist complications and internal haemorrh period (Schnitzer 198). Abnormalities in the skeleton, titty, and eyes all conduce to the characterization of Marfan syndrome (Schnitzer 198).Any affected or change association tissues piece of tail render or cause internal complications, especially concerning with the middle and the aorta (Marfan Syndrome), which is the most atrocious life big(a)(p) risk that stooge prove to be fatal (Jay). Marfan syndrome is an inherited overturn, characterized by nigh(prenominal)(prenominal) malfunctions including long trick out overgrowth and some(prenominal) abnormalities of the skeleton, heart, and eye, which is ca employ by a defect and contradict mutations in the fibrillin constituent or fibrillin-1 that can weaken and devastate the connective tissues end-to-end the body guaranteeing further complications.In some other words, Marfan syndrome weakens the con nective tissues, augmenting the risk of malign in bone overgrowth, the skeleton, heart, and eye and at the same succession affecting multiple crucial systems passim the body. Marfan syndrome is a no laughing matter, concord to quadruple crucial reasons its expanded history, tough causes, ancestralal description, and current research. First, Marfan syndrome was c arfully find in the late 1800 century. In 1896, a young tolerant was meticulously examined by Antoine Bernard Jean Marfan, hence the name Marfan syndrome, who find and initiatory described the distract (Keane).Marfan ascertained that the young patient had builded long, turn off digits such(prenominal) as the fingers, thumbs, and toes on the work force and feet as thoroughly as the festering of unusual long limbs (Keane). Little did he know, however, that this overturn was ca utilise by mutations in the fibrillin ingredient that encodes a significant component, connective tissues (Marfan Syndrome). But the cause was eventually discovered and set by researchers in 1991, with the jockstrap of a generous foundation, the demonstrate of Dimes ( nascency Defects), which is the secant reason why Marfan syndrome is a serious matter.Fibrillin is a protein found in distinguishable aras of the body such as the aorta, ligaments, bones, and the lungs ( pay Defects). Thus, fibrillin helps regulate a transforming growth compute called Beta that plays a crucial affair in tissue growth and reparation ( digest Defects) which helps stabilizes more significant argonas throughout the body. ancestral description flexs the third reason. Marfan syndrome can be inherited by anyone (Marfan Syndrome), devising it autosomal dominant (Jay).Autosomal dominant essentially means that one enhance can be diagnosed with the disturbance (Marfan Syndrome) and pretend a 50-50 chance of passing it on to their children (Jay). The stub line is that Marfan syndrome is a dominant genetic trait and that e veryone can inherit it to a lower place certain circumstances ( bear Defects). Finally, world the fourth reason, current research is calm under mien, despite the fact that thither is no recuperate yet. However, beginning in the socio-economic class 2007, a clinical trial began examine the effects of two different medicines in the effort to reduce the rate of forward motion of aortic complications (Birth Defects).Unfortunately, studies show that fountainhead-nigh 25 percent of cases dealing with Marfan syndrome are sporadic, or in other words, caused by a new mutation (Birth Defects). Affecting as many as one in every 10,000 to 20,000 state (Donohue), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are song their best to prevent or lessen the symptoms of Marfan syndrome and to reduce the complications as well.Marfan syndrome comes with some black factors such as the signs and symptoms, screen out covering fire and diagnosing, and the prognosis also known as the emergence. First, signs and symptoms are crucial to identify as soon as possible. The symptoms of the infirmity complicate, simply are not limited to, flavorless feet, chest that sinks in or sticks out, slenderise and narrowed cheek, small lower jaw, nearsightedness, gap in the crystalline lenses of the eyes, learning disability, and scoliosis or when the spine curves to one side (Board).However, identifying the symptoms of the deflect can prove difficult (Jay) since age is a crucial factor problematic (Marfan Syndrome) and that the establishment of a specific, formal test still does not exist (Jay). In other words, doctors become aware of this disorder in people only when the marked signs occur caused by the disruption of the connective tissues. Also, the disorder is present at affinity even though it whitethorn not be diagnosed until at a later on time (Marfan S yndrome).But when the symptoms do occur, the hands, fingers, feet, and toes whitethorn be unnormally long as well as the tallness in meridian with long, thin arms and legs (Schnitzer 198). Skeletal abnormalities include a few deformities of the chest and face (Schnitzer 198). Other symptoms deals with the eyes, such as the dislocation of the eyes lenses (What is), and the lungs, which can plus the risk and trigger asthma, bronchitis, pneumonia, and collapsed lungs (Marfan Syndrome). Secondly, the diagnosis of this syndrome can be determined by some medical evaluation.Based on a clinical diagnosis, the heart, eyes, occupation vessels, spine, and skeletal system are most likely to be analyse out by medical professionals (Marfan Syndrome). When analyse a disorder, machines and methods are used to start valuable information just about the billet of it. For example, to superintend the changes in the heart and occupation vessels, chest x-rays, an electrocardiogram (ECG) and a n echocardiogram which is a emblem of machine that uses high oftenness hearty waves to produce a moving motion-picture show all may be used in the process (Marfan Syndrom).Thirdly, the outcomes may search very challenging to those who exact the disorder, but there is a feasible port to live through it all. Changes in the heart and blood vessels were collapseing in about 90 percent for those who inherit the disorder (Marfan Syndrome). Because of this change, people must restrain from heavy activities and exercise as well as strenuous competitive sports which can all place high stress on the heart and aorta (Birth Defects). Thus, intimacy in less vigorous activities such as walking, golfing, swimming, and slow-paced tennis was consider safer to do (Birth Defects).But despite the helpful guidance and brave of many programs, treatments, and changes, 50 is usually the norm age of death for those who sadly book the disorder (Schnitzer 198). Heart complications and failure is usually a cause for this. However, there defend been records and reports where patients have survived beyond the age of 50, well into their 60s (Board). Despite whether the factors are negative or not, inheriting this type of disorder requires immediate attention and possibly significant changes as well.People who inherit Marfan syndrome exit most likely face devastating changes payable to the many negative complications and the risks factors that follows. Concerning with the complications, there are four main areas where the disorder can create devastating results which include the heart, face, eyes, and chest. Heart malfunctions is the first one, which is the most serious not to deferred payment the most deadly complication of all (Jay). This is because the aorta, connected with the heart, could easily snatch up due to en monumentalment (Jay).Cardiomyopathy, which is basically the enlargement and the weaken of the heart muscle, is another problem because this could lead to heart failure (Marfan Syndrome). But the seam line for the heart complications associated with the disorder is that the large blood vessels connecting to the heart may in stages weaken and expand, which can eventually rupture causing death (Schnitzer 198). Complications in the eye, such as nearsightedness and the dislocation of the lenses, can be corrected with glasses or contact lenses however, more advanced methods may include the usage of medical lasers (Birth Defects).Other complications involve with the chest in which it may protrude outward or inbound joints where it becomes increasingly flexible and the face where patients may have a long, narrow face and the roof of the mouth may be higher than normal (Marfan Syndrome). Risk factors are another concern, closely following the complications of the disorder. For example, activities that deal such strength and vigorous life force should be avoided at all appeal for those who inherit the syndrome because of the follo wing risks, capable of damage the aorta and eyes (Jay).When someone discovers that a family genus Phallus has Marfan syndrome, it would be the best course of swear out to visit a genetic direction to discuss and ascertain who else have or may have inherit the syndrome. some other example involves with pregnancy. If a woman inherits the disorder and becomes pregnant, not only is she at extensive risk of her aorta rapidly enlarging, causing it to volley resulting in death, but she is also at risk of passing the inherited disorder to her newborn (Birth Defects).Thus it is considerably sapient when one or the other parent inherit the syndrome speaks to a genetic counselor and avoid pregnancy to avoid death in return. Despite the numerous complications and risk factors associated with the disorder, there are many feasible solutions and methods on better controlling the outcome of the situation and matter. Despite the many complications associated with Marfan syndrome, there are several ways to press brook and come up with decreed solutions using the advantage of special treatments and well-read how to prevent it. First, knowing how to fight back the disorder can be helpful.Some will need regular, medical check-ups, while other may need surgery. Otherwise, three significant steps can be taken to each detect or monitor the disorder thus preventing further complications. One, a medical trial by a cardiologist can examine the heart and other vital reed organs (Jay). Two, examination of the eye to check the position of the lens on a regular priming can prove crucial (Jay). Three, the participation of genetic counseling is recommended where patients are certified about the risks of passing the disorder on to children and are given advice to deal with the disorder (Jay).Another way to treat the syndrome is using of import blockers, which are high blood wedge medications where they help reduce the strength and frequency of heartbeats (Birth Defects). Surgery is the last abnegation against the disorder for many. Surgery is only involve when the aorta dilates or stretches too much to the result where necessary repairs need to be do to avoid extensive internal damage (Birth Defects) which can be fatal. Secondly, saloon is harder than it looks when it comes to Marfan syndrome, since the symptoms usually begins at a very early age in either childhood or adulthood.Thus, there is in truth not a successful way to prevent the disorder (Birth Defects). However, if the diagnosis can be detected at an early age, there is the opportunity where help and treatment can increase the chances of avoiding serious complications (Birth Defects). Although there are several feasible solutions and treatments that can be used to the full extent in treating the disorder, the many fatal risks are still present, and alarmingly high.The one, inherited disorder where connective tissues are consequently very weak caused by the defect in a gene called fib rillin-1 which results in many internal organ complications such as the skeleton, heart, and eyes as well as the development in the long thin limbs and digits is Marfan syndrome which can become increasingly deadly if not given the proper treatment it deserves. People who have the disorder satisfy physically, internally, and mentally. Physically, they can develop skeleton abnormalities, changing the way how they look, and develop long, thin digits making them look outstandingly tall and thin.Internally, people can suffer all kinds of damage in the heart, eyes, skin, bones, blood vessels, the aorta, and the lungs. The disorder mentally affects both the patient and their relations with others, forcing change in their lives. make up though a cure for the disorder has not been successfully discovered, treatments and versatile methods have been introduced throughout the years since its discovery by Marfan himself. And, researchers today are still try hard through their own success, failures, and teachings, hopefully opening up the gates to a cure of this devastating disorder, Marfan syndrome.Works Cited Birth Defects. March of Dimes. March of Dimes Foundation, n. d. Web. 20 Mar. 2013. . Board, A. D. A. M. Editorial. Marfan Syndrome. PubMed Health. U. S. National depository library of Medicine, 18 Jan. 0001. Web. 25 Mar. 2013. . Donohue, Paul G. , Dr. Marfan Syndrome Is a Genetic Abnormality Marfan Syndrome Is a Genetic Abnormality. Providence Journal Providence 7 Oct. 1986, speech pattern sec. C-13. ProQuest Newsstand. Web. 20 Mar. 2013. . Keane, Martin G. , and Reed E. Pyeritz. Medical circumspection of Marfan Syndrome. Circulation. American Heart Association, n. d. Web. 20 Mar. 2013. . Kugler, Mary, R. N. electric chair Lincoln and Marfan Syndrome. About. com Rare Diseases. About. com, n. d. Web. 23 Mar. 2013. . tuition About Marfan Syndrome. Learning About Marfan Syndrome. Genome. gov, n. d. Web. 25 Mar. 2013.