...Marfan Syndrome: A Brief Overview Abstract This paper will discuss the etiology and pathology of Marfan syndrome. It will also explore the signs and symptoms of the genetic disorder. Finally, it will discuss some of the available treatments, quality of life and prognosis of some one affected by Marfan syndrome. Marfan Syndrome: A Brief Overview Marfan syndrome was first described in 1896 by a French pediatrician by the name of Antoine Marfan (1858-1942). Marfan syndrome is a genetic disorder that affects the connective tissue in the body. The three main body systems that Marfan syndrome attacks are they eyes, bones and muscles, and the cardiovascular system. Marfan syndrome is also known as arachnodactyly in Greek and translates to “spider-like fingers” because of the elongated bones in the hands and fingers. Marfan syndrome is caused by a mutation on chromosome 15 that affects the production of fibrillin. Fibrillin is a protein that is responsible for allowing tissues to stretch repeatedly with out weakening. With this fibrillin defect, people with Marfan syndrome have hypermobility in their joints causing them to become weak and very loose. Another characteristic of Marfan syndrome is that some patients have excessively long limbs with an arm span greater than their height. The external affects of Marfan syndrome very greatly even with patients in the same family. The severity of Marfan syndrome is different from person to person. According to Rebecca J. Frey’s...
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...Marfan syndrome is a heredity disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardio defects, because connective tissue is found through the body, Marfan syndrome can affect many different parts of the body. This disorder is usually found in the heart, blood vessels, bones, joints, and eyes. This syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1. This is a protein that is an important part of connective tissues. Someone whom is born with Marfan syndrome is may not show signs or symptoms till later in life (Little). Some of the traits that are found in someone who has Marfan syndrome are: a tall and slender build, long arms, legs, finger, and toes that are all disproportionate, check that either dips in or protrudes outward, crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine, and flat feet (Lu). According to the National Marfan Foundation, 1 in every 5,000-7,000 babies born will be a child born with Marfan syndrome. Seventy-five percent of people with Marfan syndrome will more than likely have an affected parent. Some of the treatments for Marfan syndrome include: surgery, medicines, and heart treatments. Beta blockers is a medicine that is used to help your heart beat slower with less force, and this is one of the medicines that are commonly used to help someone who had Marfan syndrome. This syndrome can cause you aorta to stretch, and...
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...Those with Marfan Syndrome are often abnormally tall, have pronounced sternums, and possess abnormally long limbs and fingers (6). The physical features, while undoubtedly difficult to live with, are not particularly dangerous. Often, what ends up killing a victim of Marfan Syndrome are aortic aneurysms or aortic dissections. The former is an elastic bulge in the lining of the aorta, an important artery which extends directly from the heart to feed oxygen to the brain, upper body, and finally lower body. The latter is a painful and usually fatal breaking of the aorta, which results in a horrible tearing sensation throughout the bodies of its doomed sufferers. Both dangers are caused by the molecular properties of Marfan Syndrome. Specifically,...
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...------------------------------------------------- MARFAN SYNDROME ------------------------------------------------- BY MELISSA STEVENS May 22, 2014 southeastern college Abstract Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth and medical research has not yet evolved to the point of cure. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers. Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be. The appropriate specialists will develop an individualized treatment program; the approach the doctor’s use depends...
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...Marfan syndrome Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of a person eyes, cardiovascular system, and musculoskeletal system. It is named for the French pediatrician, Antoine Marfan (1858-1942), who first described it, in 1896 [1]. Marfan syndrome affects three major organ systems of the body, the first is the heart and circulatory system, second is the bones and muscles, and finally the eyes. The mutation is responsible for the production of the fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the micro fibrils that allow tissues to stretch repeatedly without weakening. Because the fibrillin is abnormal, connective tissues are looser than usual, which weakens or damages the support structures of the entire body [2]. Common external signs associated with Marfan syndrome include excessively long arms and legs, with the arm span being greater than the person’s height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The face may also be long and narrow, and may have a noticeable curvature of the spine. May also have unexplained stretch marks or dislocated lens in the eyes [3]. It is estimated that in the United States alone, about 200,000 people are affected with Marfan syndrome and other connective tissue disorders [3]. When a parent has a mutated...
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...Table 1 shows the different disorders that may overlap with Marfan Syndrome because of their clinical features. It is therefore important that all these clinical manifestations are ruled out before diagnosing an individual of a potential disorder. A disorder that overlaps mostly with the many features of the Marfan syndrome is Loeys-Dietz syndrome (LDS) as a result of mutations in TGFBR2, TGFBR1, SMAD3 and TGFB2.4 Patients with LDS present with malar hypoplasia, arched palate, scoliosis, dural ectasia, aortia aneurysms and dissections.2 Although they have long finger, bone overgrowth is often absent and does not show ectopia lentis.2 Distinctive features include high frequency hypertelorism learning disability, congenital heart disease and...
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...To prosect the organs I first bluntly dissect the aorta from the back of the organ block. Next, I detach the aorta from the heart by cutting the aorta at the aortic arch. The aorta is opened longitudinally and the interior examined for atherosclerosis, other pathologies and any medical devices. Then, I cut the esophagus from the larynx and bluntly dissect the esophagus away from the organ block, leaving it attached to the stomach. Next, the spleen is detached, weighed and serially sectioned perpendicular to the long axis. Next, I locate the kidneys and remove them from their capsule. I make sure to comment on how the capsule removes from the external surface of the kidney. I then weigh each kidney and bivalve them. Each kidney is serially section perpendicular to the long axis and any pathology is noted. Next, I locate the adrenals by palpation and remove them. After the adrenal glands are removed, they are each weigh and serially section perpendicular to the long axis. Next, the lungs are separate from the great vessels of the heart and the primary bronchi. Then each lung needs to be weighed and the bronchial tree opened. The bronchi are examined for any masses or foreign material. The lungs are then serially sectioned perpendicular to the long axis. The parenchyma needs to be examined and any pathology documented. Next, the thyroid is removed and each lobe serially sectioned. Following the removal and sectioning of the thyroid, the larynx is opened longitudinally along its...
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...differences and similarities I will talk about what these two diseases are. According to Marfan foundation, Marfan syndrome “is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grows and develops properly.” The connective tissue is made up of proteins. The protein of the tissue is called fibrillin-1. It is found in 1 out of 1,500 people. It can be found in male and female and in all races. It is in inheritable 3 out of 4 people inherit Marfan syndrome. Cystic Fibrosis is because of a defective gene that causes a thick, buildup of mucus in the lungs, pancreas and other organs. In...
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...I bleed into the line. I honestly thought the PA did something incorrect. However, it happened again with my second treatment. Then I began bleeding at home. About two weeks ago I found a graphic that talked about bruising with Ehlers- Danlos Syndrome. The light blub when off. I asked around if an individual could bleed with it and they can. "Ehlers- Danlos Syndrome is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. Ehlers-Danlos Syndrome is known or thought to alter the biology of collagen in the body (the most abundant protein), which can lead to multi-systemic symptoms." The main types of EDS are as follows Hypermobility, Classical, Vascular, Kyhoscoliosis, Arthrochalasia, and Dermatosparaxi. I e-mailed my one doctor who to my surprise agreed that this is an excellent theory to explain the missing puzzle piece. Unfortunately, I won't know for certain until March, which is when I see the...
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...Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare genetic inherited syndrome. Ehlers-Danlos syndrome affects the connective tissues, which provide support to the skin, bones, blood vessels, and other organs of the body. There are six types of EDS hyper mobility, classical, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis. Some types are so severe that people can’t participate in any sport activities or any physical activity. The two major types of EDS are Classical EDS and Hyper mobile EDS. These two types make up 90% of all EDS cases. Eduard Ehlers, a Danish physician, and Henri-Alexandre Danlos, a French physician, first described EDS. I chose Ehlers Danlos syndrome because I have it and wanted to learn a little bit more about it. I also wanted to see if there are any nutritional things I can do to improve my condition. I was diagnosed with EDS when I was 15. I kept dislocating my shoulder and was in a lot of pain, so I went and got an MRI. It turned out I didn’t have a tear, the doctor sent me to get tests done to see if I had EDS. I went through the physical tests and blood samples and found out I had Hyper mobility EDS. The symptoms of hyper mobility EDS are: chronic dislocations, easily bruised, stretchy skin, joint pain. Another symptom of this type of EDS is subject to frequent injury, week bones and chronic fractures. After hearing all of this it made sense since I have all of those symptoms. Ehlers Danlos Syndrome is a new disease that...
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...Ehlers-Danlos syndrome (Stretchy Skin Disease) Ehlers-Danlos Syndrome, also known as Stretchy Skin Disease is a connective tissue disorder that is inherited. There are several types of Ehlers-Danlos syndrome ranging from mild to life threatening (Ehlers-Danlos syndrome, 2006). According to NCBI, this disease is characterized by hyperextensibility of the skin, joint hypermobility, weakness of tissue, and rupture in arteries. People with this disease have a deficiency in collagen causing the skin, muscles and joints to not hold firm. Signs & Symptoms * Double-Jointedness, joint popping, joint dislocation, congenital hip dislocation * Easily damaged, bruised or stretchy skin, poor wound healing * Chronic joint pain * Very soft and velvety skin, very stretchy skin, fragile * Vision problems, deformed surface of the eye, crossed eyes * Weak internal organs Most Ehlers-Danlos syndrome types affect the joint tissue and skin; a couple other types affect the same, including fragile blood vessels that affecting the internal organs. Complications * Premature rupture of membranes, rupture of intestines, uterus or eyeballs * Periodontitis * Mitral valve prolapse * Failure of surgical wounds properly healing * Early-onset arthritis Treatment/Maintenance Currently there is no cure for Ehlers-Danlos syndrome, only management. It is important that each person establish a network of clinical physicians who are very familiar with the...
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...Postural • Mb Scheurmann • Marfan • Congenital • Ankylozing Spondylitis • Post traumatic Symptoms In addition to an abnormally curved spine, kyphosis can also cause back pain and stiffness in some people. Mild cases of kyphosis may produce no noticeable signs or symptoms. When to see a doctor Make an appointment with your doctor if you notice an increased curve in your upper back or in your child's spine. The individual bones (vertebrae) that make up a healthy spine look like cylinders stacked in a column. Kyphosis occurs when the vertebrae in the upper back become more wedge-shaped. This deformity can be caused by a variety of problems, including: • Osteoporosis. This bone-thinning disorder can result in crushed vertebrae (compression fractures). Osteoporosis is most common in older adults, particularly women, and in people who have taken high doses of corticosteroids for long periods of time. • Disk degeneration. Soft, circular disks act as cushions between spinal vertebrae. With age, these disks dry out and shrink, which often worsens kyphosis. • Scheuermann's disease. Also called Scheuermann's kyphosis, this disease typically begins during the growth spurt that occurs before puberty. Boys are affected more often than are girls. The rounding of the back may worsen as the child finishes growing. • Birth defects. If a baby's spinal column doesn't develop properly in the womb, the spinal bones may not form properly, causing kyphosis. • Syndromes. Kyphosis in children can also...
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...leaves not much time for learning because the toileting, hygiene, and eating do take a big part of the day. The teachers usually have a full time assistant in the classroom or two depending on the need in the classroom; this helps the Special Education teacher complete tasks in the classroom. The teacher can work on a student one on one and the assistant can help with the other students needs. (Severe Intellectual Disabilities and Multiple Diablites, 2007) Some of the intellectual disabilities that teachers may encounter I have found are ADHD (Attention Deficit hyperactivity Disorder), Angel man syndrome, Aspersers Syndrome, Autism, Cri Du Char, Down Syndrome, Dysphasia, Dyspraxia, Epilepsy, Fragile X, Klinefelter Syndrome, Pervasive Developmental Disorder, Prader-willi Syndrome, Rett Syndrome, Trismoy, Soto’s Syndrome, Tourette Syndrome, Tuberous Sclerosis, and Williams Syndrome. (Activ, 2001) References Activ (2001) Types of Intellectual Disabilities. Retrieved on July 13, 2001 from http://www.activ.asn.au/3/3017/8/types_of_intellectual_disability.pm Severe Intellectual Disabilities and Multiple Disabilities. Pat Mimms. Retrieved from Special Education for Today’s Teachers: An Introduction, by Michael S. Rosenberg, D avid L. Westling, and James M cLeskey....
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...Edward's Syndrome Edward's Syndrome, also known as Trisomy 18 Syndrome, was discovered in 1960 by Dr. John Edward. It is a very rare inherited genetic disorder that is likely in one out of every five thousand births. Children with the syndrome have an extra chromosome 18, causing the child to have many malformations and mental retardation. Nineteen out of twenty of the children with the Edward's Syndrome die before their first birthday. There are three types of the Trisomy 18 Syndrome. The first one is most common it's called Full Trisomy 18. In this case a full extra chromosome is present in each cell. This type is not hereditary. The second type is very rare, it's called Partial Trisomy 18. This type of the syndrome can be hereditary. It occurs when only part of the extra chromosome is present in each cell. The third type is Mosaic Trisomy 18 this is also very rare. The extra part if the chromosome is only present in some of the cells, not all. The defects of Edward's Syndrome can target the brain, heart, craniofacial structures, kidneys and stomach. The children that make it thorough birth appear fragile and weak, many are underweight and have micrognathia. Many of the surviving children have these problems because of the malformed extra chromosome, just one little chromosome can really make or break someone's life. The syndrome can be diagnosis by taking a blood sample from the fetus to look at the chromosome line up. Edward's Syndrome can also be diagnosed by a few other test...
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...Doctors have been left baffled after a Chinese pensioner woke from a two-week coma speaking perfect English - but not a word of her native language. Liu Jieyu, 94, had been unconscious for a fortnight after suffering a stroke, which doctors had feared she may not recover from. When she finally awoke, the retired teacher asked in perfect English: 'Where am I? What is happening?' Surprised doctors were left even more confused when it became clear Ms Jieyu - who used to teach English - had lost all ability to speak her native Chinese. An English-speaking doctor was brought in to talk to the pensioner, who confirmed she was speaking the language perfectly - although a little slowly. Her shocked family say while Ms Jieyu had taught English previously, she had not spoken the language in more than 30 years. They say said she had stopped using English after retiring to live with her family on the outskirts of the city of Changsha, in southern China's Hunan province. RELATED ARTICLES Medic Tao Hou, 45, said: 'I can't ever remember having a case like this before but we anticipate with proper rehabilitation and rest she should regain the ability to speak Chinese. 'We assume that the area dealing with her ability to speak Chinese has been damaged, but brain cells to have an ability to repair themselves to a certain extent we would hope to see at least some improvement.' Ms Jieyu was admitted to hospital after suffering a type of stroke called a cerebral infarction, where the blood...
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