Marfan’s Syndrome Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait. It is distributed worldwide‚ has a high prevalence rate and has pleiotropic manifestations‚ meaning one gene influences multiple traits that do not seem to be related. Mutations of the FBN1 gene on the 15th chromosome (more specifically chromosome 15q21.1) cause Marfan syndrome. The FBN1 gene is coded to make a glycoprotein called fibrillin-1
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My condition 3is called ITB syndrome Explanation: ITB syndrome stands for Iliotibial Band Syndrome. This is a common thigh injury generally associated with running. The band is crucial to stabilizing the knee during running. The irritation usually occurs over the outside of the knee joint‚ at the lateral epicondyle. The iliotibial band crosses bone and muscle at this point; between these structures is a bursa‚ which should facilitate a smooth‚ gliding motion. However‚ when inflamed‚
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22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
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Dementia Awareness Outcome 4- Understand factors relating to and individual’s experience of dementia Mrs A- Dementia with lewy bodies Mrs A is 65 years of age and has Dementia with Lewy Bodies. Most mornings she wakes up in pain and requires a lot of support with her personal care now as she is unsteady on her feet. She requires a rota-stand for standing and transfers and at times struggles to keep her eyes open and concentrate. Mrs A is aware of her dementia and seems low in herself at moments
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Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
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Blindness can be interpreted in many different ways. We can speak about blindness in the sense of physical blindness or emotionally blind‚ even so we can speak about being spiritually blind. In the end‚ it all comes to one thing‚ which is that blindness causes you to miss out or not see certain things depending on the subject. A blind man might say he has been blind all his life and has never seen the beauty of a rose but has only smelt the sweet fragrance of it‚ a devoted Christian might say that one is
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Hunter Syndrome Hunter syndrome is a rare genetic disease that almost always occurs in males. This incurable disease is also called mucopolysaccharidosis II (MPS II). This disorder is caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). This enzyme is needed to successfully break down glycosaminoglycans‚ as part of the body’s normal recycling and renewal process. In a person with Hunter syndrome‚ enzyme I2S is missing or not working correctly. It is the accumulation
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captors. Although not deeply documented a form of the syndrome may have afflicted slaves after being freed under the Emancipation Proclamation. The master presided over the land the slaves were allotted to‚ no outside contact may be made‚ escape often had penalty of death‚ and all facilities were provided by the master. Some slaves were against the idea of leaving slavery‚ thereby entranced by the syndrome. ( Krasnec) Stockholm syndrome is a term used to describe when a kidnap or barricade victim
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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition‚ occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although‚ most students with Down’s Syndrome are between the mild to moderate range of mental retardation. Initially‚ Down’s Syndrome was given the label of Mongolism due to the physical characteristics of the disorder. A student with Down’s Syndrome is usually
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Marfan Syndrome Wesley Thompson Jim Hutchins Biomedical Core 1110 November 19‚ 2011 Marfan syndrome is a variable‚ autosomal-dominant disorder in the connective tissue with distinct physical characteristics. The principal features affect the cardiovascular system‚ eyes and skeleton. This condition affects the connective protein that forms the structural support for tissues outside the cell. This disease is a result of a faulty makeup of chromosomes. Since MFS (Marfan Syndrome) is an
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