Marfan Syndrome Essay
explanatory Essay
990 words
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions. Marfans occurs evenly in men and women and can be inherited from just one parent. Marfan syndrome is also referred to as... ... middle of paper ... ...sures (Milewicz, 2005). Acute dissection may be accompanied by all of the classic signs and symptoms similar to that of a heart attack, or it may be clinically silent. In an effort to decrease the mortality rate of patients suffering from Marfans and have a potentially high risk of aortic dissection, current studies are investigating the safety and practicality of endovascular stent graft repair. Endovascular stent graft repair is designed to help reinforce a weakened aorta. Endovascular surgery is performed inside the aorta using thin, long tubes called catheters to place a stent surrounded with a fabric liner. Endovascular stent grafting uses an endovascular stent graft to reinforce the wall of the aorta and to help keep the damaged area from rupturing and developing into a potentially serious health problem that can be fatal and cause massive internal bleeding.
In this essay, the author
- Explains that marfan syndrome is an autosomal dominant hereditary disorder of connective tissue.
- Explains that marfan syndrome occurs evenly in men and women and can be inherited from just one parent.
- Opines that despite advances in medical, surgical, and endovascular treatments, marfan syndrome remains a tough clinical challenge. this study explores the safety and possibility of stent–graft placement in the dissected descending thoracic
- Explains that the average life expectancy of untreated patients with marfan syndrome is 32 years. aortic dissection is one of the most disastrous maladies that can affect the aorta.
Related
- explanatory
- Essay On Marfan Syndromeexplanatory essayMarfan 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.
In this essay, the author
- Explains that marfan syndrome is an inherited disorder that affects the connective tissue of the body.
- Explains that marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, which contributes to its elasticity and strength.
- Explains that each person with the disease experiences different symptoms, but most people are tall, with a thin build, long arms, legs, fingers, and toes, along with flexible joints and scoliosis.
- Explains the symptoms of marfan syndrome, including nearsightedness, dislocated lens of the eyes, detached retina, sudden lung collapse, asthma, and stretch marks that are not explained by pregnancy or weight loss/gain.
- Explains that although there being no cure, treatments can help to delay or prevent complications. the type of treatment is individualized to the patient’s needs, as it depends on the symptoms.
- Explains that leaky aortas can cause heart failure, which is why surgery can be performed to replace the affected valve. for patients with scoliosis, doctors recommend custom-made back braces.
- Explains that if a patient has cataracts, their clouded lens can be replaced with an artificial lens.
- Explains that marfan syndrome affects many people around the world, either through genetics or surprise, and the harsh symptoms prove it to be a frustrating condition.
943 wordsRead More - Early Detection of Cardiac Dysfunction by Strain and Strain Rate Imaging in Children and Young Adults with Marfan’s Syndromeexplanatory essayMarfan’s syndrome is a disorder that is inherited. Mutations that are passed from parent to child are hereditary mutations or germ line mutations. The syndrome is named after Antoine Marfan, a French pediatrician who described the condition. Marfan’s syndrome is an autosomal dominant disorder as portrayed in the image above. Parents have a 50% chance of passing the mutation to their offspring. Marfan’s syndrome affects the connective tissues that are in the body which means that it affects the body’s proteins. Fibrillin-1 is a protein that is integral in normally functioning connective tissue. Marfan’s Syndrome is caused by a FBN1 mutation that leads to misfolding of fibrillin-1. According to ("Marfan Syndrome." - Genetics Home Reference. N.p., 7 Apr. 2014. Web. 14 Apr. 2014), a gene mutation is a permanent change in the DNA sequence that makes up a gene. The protein that increases when someone has Marfan’s syndrome is TGFB (transforming growth factor beta). The protein increases because TGF-β causes problems in connective tissues throughout the body, which creates the features and m...
In this essay, the author
- Explains that marfan's syndrome is an autosomal dominant disorder caused by a mutation in the fbn1 gene that leads to misfolding of fibrillin-1.
- Explains that geneticists have found the location by using cytogenic location, a technique in which some chromosomes are listed with chemicals while they are patterned.
522 wordsRead More - Marfan Syndromeexplanatory essayMarfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (FBN1) found on chromosome 15 (McKusick V, O'Neill M, 2013). At least 140 different mutations of this gene have been recorded since 2008 (Frey R, Lutwick L, 2009). The FBN1 gene regulates the manufacturing of the fibrillin-1 protein that assists in constructing fibrous filaments which are present in portions of the fibers in connective tissue (Frey R, Lutwick L, 2009). Those filaments manage the discharge of growth factors or protein molecules which prompt the reproduction and growth of cells (Frey R, Lutwick L, 2009). In healthy individuals, the filaments discharge growth factors at the right moment but those who have Marfan syndrome are faced with the dilemma of growth factors being discharged too soon. The early release of growth factors results in fragile connective tissue and the uncommonly lengthy limbs of those with the disorder.
In this essay, the author
- Describes marfan syndrome, an inherited disorder which alters the connective tissue in the body.
- Explains that marfan syndrome is an autosomal dominant disorder resulting from mutations in the gene fibrillin-1 (fbn1) found on chromosome 15.
- Explains that marfan syndrome is a genetic disorder that is not specific to age, ethnic group, or gender. it is common in all countries around the globe.
- Explains the symptoms associated with marfan syndrome, including extended limbs, slim build, scoliosis, chest that sinks in or protrudes, teeth that are jammed together, and stretch marks visible on the skin.
- Explains the symptoms associated with marfan syndrome, such as shortness of breath, heart palpitations, fatigue, chest discomfort, and an unusual heart rate.
- Explains that marfan syndrome can be diagnosed through physical examinations, test results, and medical and family history. genetic testing may be required because there is not a sole test available to determine all the identifiable mutations of the fbn1.
- Explains that doctors use the ghent criteria to differentiate between marfan syndrome and other similar conditions. primary signs include an inflated aorta, family history, displacement in the eye lens, dural ectasia, and at least four skeletal complications.
- Explains that comprehensive medical testing is essential for physicians to reach a definite diagnosis. physical exams, eye tests, electrocardiograms, and computed tomography are also available.
- Explains that no cure for marfan syndrome has been discovered, but it can be managed with proper therapy and medications.
- Explains that clinical trials are being conducted to help specialists understand marfan syndrome and discover further treatments for it.
1537 wordsRead More - Essay On Marfan's Syndromeexplanatory essayMarfan’s syndrome is a disease where the connective tissue in a person’s joints are more elastic than a normal persons. Marfans syndrome can also be called arachnodactyly meaning “spider” which comes from the Greek word, arachne. It was named this since all patients tend to have long limbs. The chromosome that is affected by this disease is called Chromosome 15, which was discovered by scientists in 1991. And research is currently underway to find out the cause of these mutations in the body. Most patients are tall, thin, have long and narrow faces, longer limbs with a protruding or sunken in breastbone, crowded teeth, flat feet and most also have scoliosis. Their connective tissue is affected and becomes abnormal. Connective tissue is classified as tendons,
In this essay, the author
- Explains that marfan's syndrome is caused by a gene that controls how the body makes fibrillin. it affects 1 in 5,000 americans.
- Explains that marfan's syndrome is an inherited syndrome that affects the heart, blood vessels, bones, joints, eyes, lungs, skin, and nervous system.
- Explains that marfan syndrome can cause many eye problems, such as a dislocated lens in one or both eyes.
816 wordsRead More - Marfan Syndrome Research Paperexplanatory essayMarfan Syndrome (MFS) is a disorder of the connective tissue, which holds all parts of the body together and helps control how the body grows. Since connective tissue is found throughout the body it can affect several different areas, such as the cardiovascular system, musculoskeletal system, and the ocular system, and sometimes the integumentary system, and lungs can be affected. About 1 in 5,000 people have MFS including men and women of all races and ethnic groups.
In this essay, the author
- Explains that marfan syndrome (mfs) is a disorder of the connective tissue, which helps control how the body grows. about 1 in 5,000 people have mfs.
- Explains the skeletal characteristics of mfs, including tall stature, hyper mobility of joints, scoliosis, and long tapering fingers.
- Explains that lens dislocation, high myopia, renal detachment, and loss of vision are common ocular clinical manifestations. superior dislocated lenses are seen in about sixty percent of individuals with mfs.
- Explains the cardiovascular system, system aortic aneurysm and dissection, mitral valve prolapse and regurgitation are the most common manifestations of mfs.
- Explains that the integumentary system can be affected because the skin is hyperextensible causing stretch marks and can increase the chances of hernias.
- Explains that the major protein that makes up connective tissue, fibrillin-1, becomes mutated because the gene that tells the body to make it is defected.
- Explains that there is no known cure for mfs, although treatment is focused on preventing complications and on the organ systems that are affected.
- Advises that patients with mfs should avoid high-intensity sports and exercise because they are at risk of aorta dissection/rupture.
- Explains that a person with mfs will also have musculoskeletal limitations due to an abnormality in the connective tissue, causing them to be fragile and vulnerable to muscle fatigue, weakness, and fractures.
- Explains that physical therapists can screen for a variety of symptoms, such as pain, posture, muscle length, palpation, rom, gait, and vital signs.
- Explains that patients with mfs have several intervention options, including postural training, stretching, and rom exercises against gravity and closed kinetic chain exercises.
- Opines that a patient with mfs will benefit better with physical therapy and home exercise program.
- Opines that non-impact exercises would be beneficial for mfs patients because of their low impact, but still working on cardio.
- Explains that ocular changes will have the greatest success with early intervention, and refractive surgery is an optimal treatment option. marfan syndrome has several unanswered questions and research is still in the works.
- Explains that abnormal connective tissue can affect a person's cardiovascular, ocular, and musculoskeletal systems. although there is no cure for marfan syndrome, people with it can live relatively regular and longer lives.
1576 wordsRead More - Neurofibromatosis Essayexplanatory essayNeurofibromatosis (NF) Neu-ro-fi-bro-ma-to-sis (Merriam Webster) Heidi Pasion March 24, 2014 Exploring the Internet BTEC 1510-51 Mousumi Munmun What is Neurofibromatosis? Neurofibromatosis (NF) is a genetic disorder of the nervous system.
In this essay, the author
- Explains that von recklinghausen's is the most common and occurs 1 in 4,000 births.
- Describes the appearance of two or more neurofibromas (pea-sized bumps) that can grow either on the nerve tissue, under the skin or of many nerve tissues.
- Describes the appearance of tiny tan clumps of pigment in the iris of the eyes (lish nodules).
- Explains that neurofibromatosis 2 is referred to as bilateral acoustic, central, or vestibular. it occurs less frequently than 1 in 40,000 births.
- Explains that the tumor is on the spinal cord. nf2 has been traced to chromosome 22.
- Explains that neurofibromatosis is a genetic disorder of the nervous system that affects all races, all ethnic groups, and both sexes equally.
- Describes the symptoms of neurofibromatosis1 and explains that the nf1 gene is located on chromosome 17.
620 wordsRead More - Carnavale, Mingarelli, Malpuech BS 3-MC Syndromeexplanatory essayRoorcyk et al. reported that the disease is caused by the missense mutations occur in COLEC11 and MASP1 gene. These genes are involved in lectin complement pathway in humans. They studied the disease in eleven families of affected children in which four of them are from consanguineous family. They managed to show that different mutations in COLEC11 or MASP1 cause the 3MC syndrome. They further used zebra fish model to strengthen their findings. Moreover, they analyzed CL-K1, the byproduct of COLEC11 pathway to study neural crest cells migration in affected patients. Most of their observations were supported by Sirmaci et al. 2010 and Kerstjens-Frederikse et al. 2005.
In this essay, the author
- Explains that in four consanguineous families, two homozygous regions were found at chromosome 2p25.3. the colec11 gene was mutated in six of the eleven families studied.
- Explains that the expression of cl-k1 was known to be in brain, liver, kidney and other important tissues in humans.
- Explains that in six of the eleven families studied, the homozygous region in chromosome 3q27 has undergone missense mutation.
- Explains that two antisense morpholinos were injected against initiation site and exon 2-intron 2 splice site in the zebra fish and its effect was observed.
- Explains that colec11 and masp1 morpholinos were added to zebra fish at one cell stage and the effect was studied.
- Explains that carnavale, mingarelli, malpuech and michels syndrome is a rare autosomal recessive syndrome that becomes apparent at birth itself.
- Explains that recombinant cl-k1 beads were inserted into zebra fish head at eighteen somite stage, and quail neural tube explant assay.
- Explains that mutations in lectin complement pathway genes colec11 and masp1 cause 3mc syndrome in carnevale, malpuech, osa, and michels syndromes.
897 wordsRead More - Muscular Dystrophy Effects on the Skeletal and Cardiovascular system Understanding Muscular Dystrophyexplanatory essayMuscular dystrophy (DMD) is a widespread genetic disease that affects approximately 1 in 3000 males (MDA | Muscular Dystrophy Association, n.d.). This disease results from a mutation in the gene dystrophin, a sarcolemmal protein rich in skeletal and cardiac muscle cells. Dystrophin is naturally absent in DMD.
In this essay, the author
- Explains that people with duchene muscular dystrophy lives can be extended six to twenty-five years with respiratory support, but do not usually live longer than 15 to 25 years of age.
- Opines that au, c. g., butler, t. l, sherwood, m. c, egan, j.
- Opines that gehrig, s. m., van der poel, c.
- Explains that muscular dystrophy (dmd) is a widespread genetic disease that affects approximately 1 in 3000 males.
- States that the genetic makeup of duchene muscular dystrophy is the absence of the protein dystrophin.
- Explains that muscle hypertrophy affects the calf, ankles, knees and hips. the most common treatment for scoliosis is surgical.
- Explains that cardiomyopathy is a chronic disease of the heart muscle that weakens and enlarges your heart.
1030 wordsRead More - Marfan Syndrome Thesisexplanatory essayPeople with Marfan Syndrome are born with it. And they need as many special care as any other medical condition, this condition does not make them less than any other human being. They feel pain, love, and have hope to get better in their life condition and be as happy as they can. The science has made further improvements to provide for those who were born with the condition to have a better and healthy life, and a less painful treatment. As we may know there are possibilities of developing Marfan syndrome without having familiar record of the disease, it has nothing to do with race or skin color or even social and economic position. To see individuals who have Marfan Syndrome from a sociological perspective makes wonder if they need certain
In this essay, the author
- Explains that people with marfan syndrome need as many special care as any other medical condition. they feel pain, love, and have hope to get better in their life condition and be as happy as they can.
205 wordsRead More - Fragile X Syndrome Analysisexplanatory essayFragile X Syndrome causes a range of developmental problems including, learning disabilities and cognitive impairment. These problems include physical features from, large ears, long face, soft skin and large testicles (called “macroorchidism”) in post-pubertal males. Not every with the FM1 gene has symptoms of Fragile X Syndrome, because the body may still be able to make FMRP. A few things that affect how much FMRP that can makes includes, the size of the mutation, the number of cells that have can make include the size of mutation, the number of cells that have mutations and lastly whether or not someone is female. These factors determine how much FMRP protein is made and whether or not signs and symptoms of Fragile X Syndrome will be mild or
In this essay, the author
- Explains fragile x syndrome is the most common inherited form of mental retardation currently known to mankind.
- Explains that a mutation in the fmr1 gene causes fragile x syndrome, mental retardation, premature ovarian failure, autism, parkinson's disease, developmental delays, and other cognitive deficits.
- Explains that the amount of fmrp gene in the body determines how severe the effects of fragile x syndrome are. premutation may cause the gene to not work properly, but it does not cause intellectual and development disability.
- Explains that fragile x syndrome affects tissues and organs along with the functioning of their systems. fmrp plays a role in the development of synapses, which are specialized connections between nerve cells.
- Explains that fragile x syndrome causes a range of developmental problems including, learning disabilities and cognitive impairment. the size of the mutation, the number of cells that have mutations, and whether or not someone is female determine how much fmrp protein is made.
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