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Marfan syndrome research paper
Marfan syndrome research paper
Marfan syndrome research paper
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Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition. According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the condition occurs …show more content…
According to “Heart Disease and Marfan Syndrome” (n.d.), if the disease is suspected, the doctor will perform a physical exam of the eyes, heart and blood vessels, and muscle and skeletal system. After, a history of symptoms and information about family members will be obtained to determine if you have it. A chest x-ray, an electrocardiogram, and an echocardiogram can also be used to evaluate the heart and blood vessels to detect heart rhythm problems. A transesophageal echocardiogram may also be used, along with an MRI, CT scan, or a slit lamp eye exam to check for dislocated lenses. The various symptoms of Marfan syndrome allow doctors to diagnose the condition and provide treatments that can help the
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
Stargardt disease or also known as fundus flavimaculatus, is an inherited form of macular degeneration that causes vision loss in an accelerated way usually to the point of legal blindness. Macular degeneration is caused by “the deterioration of the central portion of the retina, the inside back layer of the eye that records the images one sees and sends them via the optic nerve from the eye to the brain. The retinas central portion, known as the macula, is responsible for focusing central vision in the eye, and it controls our ability to read, drive a car, recognize faces or colors, and see objects in fine detail.” (http://www.macular.org/what-macular-degeneration) One can see signs of Stargardt disease starting with the ages between six and twelve years old. The disease plateaus shortly after rapid reduction in visual acuity. Stargardt disease is a genetic condition caused by the death of photoreceptor cells in the central area of the retina called the macula. Karl Stargardt discovered the disease in 1909 and the cause of the disease was no discovered until 1997. The disease occurs because a mutatuion in the ABCA4 gene causes a production of dysfunctional protein that cannot perform energy transport and from photoreceptor cells in the retina.
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
What do Michael Phelps, Abraham Lincoln, Mary Queen of Scots, & Tutankhamen all have in common? Although these may seem like completely unrelated names, these are all people suspected of having Marfan’s Syndrome, a genetic mutation obtained through heredity. How does DNA (Deoxyribonucleic Acid) and its complex (structure) relate to inheritance of traits in organisms—especially in humans? DNA is inherited from ones biological parents, and is the basis of heredity. It contains the code for all of our attributes, including how they will form. DNA is composed of four different chemicals, otherwise knows as nucleotide bases—A, T, C, & G. DNA is found in chromosomes—and each offspring receives one chromosome from their mother and father (each). In DNA, there are genes— specific sequences that carry hereditary information and control he expression of this hereditary traits. Heredity is the expression of characteristics obtained form ancestor to descendant through the transmission of genes. Inconsistencies can occur in these genes, however. Environmental & hereditary agents cause changes in ...
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
What is Savant Syndrome? Savant Syndrome is an uncommon but spectacular condition in which people with various developmental disabilities have problems interacting normally. This condition is often seen in people with autism that has limited abilities with language, socialization, and daily living. Autism is a moderately rare condition resulting from a complex developmental disability that typically appears during the first three years of life – which we learned in class. Despite daily limitations people who are diagnosed with savant syndrome tend to develop surprising skills above their apparent cognitive level, and sometimes even above the level of a very smart person. Take kim Peek, for instance, who is developmentally disabled but is known
Hi group! First off I just wanted to tell you some things I learned when I researched connective tissue diseases. Connective tissue diseases by definition specify them as a group of disorders involving tissue(s) full of proteins. It is these tissues heavily based in proteins that are responsible for the support of organs and other parts of the body. Connective tissue is in our fats, bone, and cartilage. These disorders can involve many different structures including, but not limited to, muscles, joints, and skin. However, they can also have an effect on organs, and organ systems including the eyes, heart, lungs, kidneys, gastrointestinal tract, and blood vessels. I also discovered there are over 200 disorders that affect connective tissue like Ehlers-Danlos syndrome, which is a more common and includes more than 10 disorders. Depending on the severity is can be disabling or manageable.
1 SanchezAndrea SanchezBiology 061Doctor HardinMonday, December 18, 2017Spinal Muscular AtrophySpinal Muscular Atrophy (SMA) it is a genetic disease that affects everything from the brain to your toes. It is a muscular diseases, therefore it affects all muscles in the body. The disease will affect motor cognitive ability things like clenching you fist or for newborns raising their head will be very limited due to this disease. This article outlines basic information on what the disease is. It explains the stages, the aspects of how it works and how there is treatment but no cure. (https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-71). This article provides an insight how this disease began as well as how it is today. To specify it shows how the diseases how
The only thing affected by Marfan Syndrome would be the connective tissue that holds our body together. It is caused by the misfolding of fibrillin-1 which is a protein that creates elastic fibers and is a part of cell signaling activity by binding to Transforming Growth Factor Beta.
I met Kimmy in the seventh grade when we had the same class. It was a normal student class but
Congenital Heart Disease is a medical problem with the heart’s structure and can be present at birth. People usually have a small hole in it or something more severe. These problems can involve the walls of heart, the valves of the heart, and the veins and arteries near the heart. These defects can affect the normal blood flow through the heart. Blood flow can slow and can go in the wrong direction or be blocked. Doctors typically find this problem during pregnancy. Sometimes you don’t see symptoms until adulthood but most common in babies.
Savant syndrome is an extremely rare condition, but it is one of the most fascinating developments in the brain discovered by scientists. People with savant syndrome have a very serious disability mentally or physically, like autism, although savant syndrome occurs in other developmental disabilities or central nervous system injury or disease, but they are able to gain a quite unexplainable and amazing talent that stands out in contrast to their disability. With these extraordinary abilities, it would be difficult for scientists to truly understand memory and cognition until they can understand savant syndrome.
Paternal Health Summary. From the information I gathered from my father’s side of the family, I found a recurring trend of cardiovascular problems on my grandfather’s side of the family and substance abuse and diabetes on my grandmother’s side. My Grandpa Jerry and his biological family members have suffered from heart disease in their later years in life; however, my family members did not maintain healthy diets, did not involve themselves in regular exercise, or obtain regular checkups to the doctors which may count for some of the cause of their heart issues. On the other hand, after talking to my father and my Grandpa Jerry, I found that many family members on the Patty family side have suffered from heart attacks but continued to live for several years after their episodes, but how? Maybe it is a genetic trait or it just wasn’t their time to go; either way heart disease is a major killer in my family that I will have to watch for closely throughout my life.
Muscular dystrophy is a group of specific diseases which impact the muscles that maintain the body’s movement. These diseases progressively cause weakness to the certain muscles, degeneration, chronic or permeant shortening of tendons and muscles which can eventually lead to loss of mobility. Currently, there is no known cure for muscular dystrophy however certain medicines and therapy can help prevent the horrible symptoms from progressing and slow down the disease’s development. The discussion question I have based my research around is “How can you prevent yourself from getting muscular dystrophy?” Specifically, we have three different types of muscles in our muscular system; these consisting of skeletal, cardiac and smooth. Regardless of