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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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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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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Ophelia Syndrome Study Skills November 12‚ 2012 In the essays of Diagnosing and Treating Ophelia Syndrome and Everybody is Ignorant on Different Subjects two topics are discussed which are related‚ in that they both have to do with learning and being able to think as an individual. The Ophelia Syndrome is not processing the ability to create one’s own opinion. Ophelia is a character in the play Hamlet. She is described as a helpless child and has a “Lord” or authoritative figure that forces
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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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Acute Lymphocytic Leukemia Multiple forms of leukemia are present in today’s children. The four major forms of childhood leukemia include Acute Lymphocytic Leukemia‚ Chronic Lymphocytic Leukemia‚ Acute Myelogenous Leukemia‚ and Chronic Myelogenous Leukemia. Acute Myelogenous Leukemia (AML) is cancer of the bone and bone marrow (“Acute Myelogenous Leukemia” 1). Compared to AML where 10% of AML patients are children‚ Acute Lymphocytic Leukemia accounts for 80% of all childhood acute leukemia’s.
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01/29/2003. The SSA granted disability benefits because of borderline intellectual functioning and pervasive developmental disorder. She had a history of Apert’s syndrome
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Pancreatitis Acute pancreatitis refers to the inflammation of the pancreas‚ an organ that lies in the back of the mid-abdomen. The function of the pancreas is to produce digestive juices and certain hormones‚ including insulin. Although the etiology and pathogenesis is unknown‚ the disease has been intensively investigated for centuries. Acute pancreatitis is usually a mild disease that does not lead to complications and requires only minor medical care. However a small population‚ about 20 percent
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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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The assessment of patients forms a major component of the nursing role. It allows the nurse to gain vital information to base the planning and implementation of prioritised care on. A systematic method of assessment is required‚ that ensures that all areas of assessment are covered and that the assessment and subsequent interventions are as effective and efficient as possible. One method that can be followed for patient assessment is the primary and secondary surveys‚ with an additional assessment
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