published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature‚ webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today‚ Turner Syndrome occurs in 1 in 2‚500 females worldwide. 15% of
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Tourette Syndrome is a neurological disorder that is characterized by sudden repetitive and involuntary movements or vocalizations that are generally termed “tics”. These tics can have different degrees of intensity ranging from simple to complex. Simple motor tics are brief‚ sudden‚ and repetitive movements that involve a limited number of muscle groups. They include facial grimacing‚ eye blinking and other eye movements‚ and head or shoulder jerking. Simple vocalizations include repetitive sniffing
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Down’s Syndrome Abstract This research is aimed at getting theoretical and practical knowledge about Down’s Syndrome. Psychological aids such as observation‚ Informal Interviews and case histories were used to gather information for this project. The conclusion drawn was that it is possible for individuals suffering from Down’s Syndrome to lead a fairly normal and highly satisfying life if they are provided with a loving and nurturing environment at home. Introduction The aim of this paper
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Noonan Syndrome Nicole Mitchell Dr. Hendricks Principles of Biology 1114 April 19‚ 2013 Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features‚ developmental delay‚ learning difficulties‚ short stature‚ congenital heart disease‚ renal anomalies‚ and bleeding difficulties. Noonan syndrome affects a good percent of the world
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Klinefelter Syndrome is a syndrome in which a person has an additional X-chromosome. It is not life consuming‚ but rather people who have this syndrome can live perfectly normal lives proper treatment and care‚ if precautions are taken early on. Dr. Harry Klinefelter in 1942 first identified the syndrome. Now some may ask what Klinefelter syndrome is. Klinefelter syndrome is a syndrome in which a person inherits an extra X-chromosome making their genetic makeup xxy instead of the normal How it occurs
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the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins‚ Lamin A and Lamin C. These proteins play a big role in stabilizing the inner membrane of
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Running head: METABOLIC SYNDROME Metabolic Syndrome James Doucette College of Western Idaho Abstract Metabolic syndrome is an emerging diagnosis in the medical field that has effects on patient care. Becoming familiar with it and having it become a common part of patient care will‚ if used appropriately will increase the lives of those who have become affected with or are at risk of becoming diagnosed with metabolic syndrome. Metabolic syndrome is a constellation of risks
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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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Kallmann ’s Syndrome ABSTRACT Kallmann’s syndrome is a rare disorder which affects predominantly man. Typical characteristics are a failure to go through puberty and an absent sense of smell. Although the disease is not life threatening‚ somebody with kallmann’s syndrome has an hormonal imbalance hypogonadotropic hypogonadism due to GnRH deficiency because a small area of his or her brain called the hypothalamus is unable to work properly. Specialised hormone replacement therapy is available
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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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