Marfan syndrome research paper. Marfan Syndrome Research Paper 2022-12-29
Marfan syndrome research paper
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Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support to structures such as the bones, blood vessels, and organs. People with Marfan syndrome are often tall and thin, with long limbs and fingers, and may have scoliosis, a curvature of the spine. The disorder is caused by a mutation in the gene that codes for fibrillin-1, a protein that is important for the development and maintenance of connective tissue.
Marfan syndrome can affect different parts of the body, including the heart, blood vessels, eyes, and bones. People with Marfan syndrome are at increased risk of developing aortic aneurysms, which are bulges in the aorta, the main artery that carries blood from the heart to the rest of the body. Aortic aneurysms can rupture and cause life-threatening bleeding. Marfan syndrome can also cause mitral valve prolapse, a condition in which the valve between the left atrium and left ventricle does not close properly, leading to the backflow of blood. Other complications of Marfan syndrome include cataracts, glaucoma, and problems with the spine and joints.
Diagnosing Marfan syndrome can be difficult, as the symptoms can vary widely from one person to another and may not always be obvious. A diagnosis is typically made based on a combination of physical features, family history, and genetic testing. There is no cure for Marfan syndrome, but treatment can help manage the symptoms and reduce the risk of complications. This may include medications to lower blood pressure and strengthen the heart, as well as surgery to repair or replace the aorta or mitral valve.
Research into Marfan syndrome has led to a better understanding of the genetic basis of the disorder and the development of effective treatments. In the past few decades, scientists have made significant progress in identifying the genetic mutations that cause Marfan syndrome and in developing targeted therapies to treat the condition. Researchers are also working on developing new treatments and therapies that may be able to halt or reverse the progression of the disorder.
In conclusion, Marfan syndrome is a genetic disorder that affects the body's connective tissue and can lead to a variety of complications, including heart and blood vessel problems. While there is no cure, treatments are available to manage the symptoms and reduce the risk of complications. Ongoing research is helping to improve our understanding of the genetic basis of Marfan syndrome and to develop more effective treatments for the disorder.
Marfan Syndrome Research Paper
Marfan syndrome affects the body 's connective tissue. Age-Specific Physical Assessment 1596 Words 7 Pages Prior to performing his physical assessment, I gathered information about Marfan syndrome and additional diagnoses such as scoliosis and heart murmur. Marfan syndrome is named after Antoine Marfan, the French doctor who first described the disorder in 1896. The eye related problems are successfully treated by corrective lenses or with ocular surgery. According to National Organization for Rare Disorders n. Loss of myelin in the axons of neurologic cells lead to many things; one being the formation of astrocytic scarring forming on the myelin sheaths Newlan et Multiple Sclerosis Summary 823 Words 4 Pages According to Multiple Sclerosis, a pamphlet by the U. Bridges of this extra bone develops across joints which causes immobility What is FOP.
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Good Marfan Syndrome Research Papers
In people with Marfan syndrome, this "glue" is weaker than normal. However, the condition most often affects cardiovascular, ocular and skeletal systems Finley, 2013. Lastly, the condition affects the ocular system. Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. Genetic Disorders: Cystic Fibrosis 652 Words 3 Pages Children are not the only people that can be diagnosed, adults can be diagnosed as well. Pathophysiologic Condition: Multiple Sclerosis 1459 Words 6 Pages Common findings are neurodefecits in the central nervous system CNS such as chronic neurologic demyelination and inflammation of the CNS, lesions found in the neural space of the person, and an inappropriate immune response Borazanci et al. These can lead to life-threatening complications such as rupture of aorta or congestive heart failure.
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About 1 out of 32 Ashkenazi Jews are carriers. Marfan syndrome is caused by the FBN1 gene mutations. When an adult has cystic fibrosis it affects a lot on the inside and a lot on the outside. Symptoms of Marfan syndrome vary among affected patients. Fibrillin-1 is a protein that chains itself to other Fibrillin-1 proteins in order to form threadlike filaments. It is caused by a mutation of FBN1 gene that is responsible for encoding Fibrillin-1 protein.
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. Connective tissue loses its strength and support which leads to various defects in different parts of the body. The other hearth symptoms include aortal aneurisms, aortic dissections and aortic regurgitation. The symptoms usually spontaneously exacerbate over the course of years. While some individuals express only mild symptoms, others develop serious conditions followed by great complications. The fingers can become permanently bent, fixed and without the ability to fully extend camptodactyly.
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These bridges also create a second skeleton that imprisons the body in bone. Children are born with this condition. New gene mutations occur in 25-30 percent of the cases. However, further symptoms include tall and slender build, disproportionately long arms, legs, fingers and toes, a breastbone that protrudes outward or dips inward, a high, arched palate and crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine and flat feet Mayo Clinic, n. Marfan can be life threatening, as it affects the lungs, skin, and nervous system.
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This inflammation actually breaks down the myelin of those nerves, which makes it difficult for a nerve cell to send impulses needed for doing simple things like walking or eating. The disease frequency is 1 out of 3700 for Ashkenazi Jews. Fibrillin is a protein that plays a huge roll in your connective tissue NIH. Department of Health and Human Services, Multiple Sclerosis is caused by the scarring and inflammation of brain and spinal cord tissue Richert, 1990. It can also be associated with persistent chest pain, arrhythmias and congestive heart failure. Weakened connective tissue can lead to problems in many parts of the body, especially the heart, eyes, and joints. The expression of Marfan syndrome can become apparent anytime between infancy and adulthood and depending on the onset and severity of signs and symptoms, it can be fatal early in life, but the majority of affected individuals survive into mid- to late adulthood National Organization for Rare Disorders, n.
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The mutation causes the drop of the amount of Fibrillin-1 which consequently affects the connective tissue. Other reported symptoms include widening or bulging of the sac dura that surrounds the spinal cord dural ectasia which can be associated with persistent back pain. Heart British Cardiac Society , 100 17 , 1382-1391. Increased growth starts in the womb and may continue until the child is 4 years old. They become abnormally long and slender arachnodactyly. Thirdly, Marfan syndrome causes severe cardiovascular problems. Moreover, some patients experience problems with their fingers.
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However, if expressed during infancy, the condition often quickly affects multiple organ systems early in life National Organization for Rare Disorders, n. Additionally, they store transforming growth factor TGF which is released at various times in order to control the growth and repair tissues and organs throughout the body National Organization for Rare Disorders. Therapy for Marfin syndrome includes combined meditational and surgical treatments coupled with ocular interventions. Additionally, affected patients can be prone to developing inguinal, umbilical or surgical hernias. These filaments are called microfibrils and are located in the extracellular matrix throughout the body.
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After the myelin has been stripped away it is followed by the hardening of, or sclerosis, of nervous system tissue, which is how the disease gets its name. FBN1gene is responsible for the creation of Fibrillin-1. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys. Other symptoms, depending on their severity, might need surgical treatment. In the late 1990s, researchers have been able to conclude that the disease is inherited from a parent, or developed by a mutated gene. Many children with Sotos syndrome also have some delay in mental development.
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As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues What is FOP. Connective tissue is found everywhere in the body. Additional eye symptoms include abnormally flat cornea, hypoplastic iris, and detachment of the nerve-rich membrane retina lining the back of the eyes. Also, being that it is the most severe form of muscular dystrophy, it would be extremely hard to live with, if not unbearable. While in some cases the joints could remain unaffected, in other they become stiff and tight contractures. Diagnosis and treatment of Marfan syndrome: an update. Beside these, patients may also experience symptoms like spontaneous pneumothorax, skin abnormalities and hernias.
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