Lysosomal storage diseases are rare‚ inherited disorders caused by the deficiency of one or more enzymes within the lysosomes of cells. Hunter Syndrome also known as mucopolysaccharidosis disorder II (MPS II)‚ is a genetic abnormality occurring in canines and humans. It is a rare X-linked recessive metabolic storage disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulphatase‚ which is needed to breakdown complex sugars produced in the body‚ leading to progressive accumulation
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Everyone knows about Autism‚ and Down syndrome‚ and mental retardation‚ but why not savant syndrome? Well actually most of you have heard about it. You have all heard of Kim Peek‚ or at least sort of. Kim is an autistic savant with eidetic memory (the ability to recall images‚ sounds‚ or objects in memory with great
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Metabolic Syndrome: A Precursor of Heart Disease In 1988‚ Dr. Gerald Reaven was awarded the Banting Medal for Scientific Research by the American Diabetes Association and introduced the term Syndrome X to the medical community. According to Dr. Reaven‚ “Syndrome X is a simple way to refer to a cluster of changes that encourage the onset and development of heart disease.” (Reaven‚ 2000‚ pg. 40) The medical terms Syndrome X‚ Insulin Resistance (IR)‚ or Metabolic Syndrome (MetS) have been used interchangeably
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Usher syndrome Usher syndrome is a condition that affects sensory impairments of an individual‚ this means one or more of ones five senses don’t function as normal as they should. Usher syndrome is caused by a certain genetic condition meaning it can be passed on from one generation to another it mainly affects vision and hearing. The vision part of usher syndrome is caused by a condition called retinitis pigmentosa. Retina is a layer of tissue at the back of the eye that sends light signals to the
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Research Paper Outline* HP104 This template is for a research paper (essay) with three main points. This template may be adjusted to fit your needs. If you need to add extra details‚ just add them. • Your final outline must be word-processed. It must be double-spaced in Times New Roman 12-point font. • You must include the sources that you are using in parentheses. Please include the following: 1) working title – This may change by the time you complete your paper. 2)
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Edwards Syndrome‚ also known as Trisomy 18‚ is a genetic syndrome of severe to profound mental retardation. It is caused by the presence of an extra chromosome 18 in some or all of the cells in the body. Babies with this condition typically do not survive but for a few months after birth. About sixty percent of newborns with this condition die within the first week‚ and eighty percent do not survive through the first month
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Introduction: Hurler Syndrome (MPS-I)‚ otherwise classified as Mucopolysaccharidosis‚ is the most severe form of this disease and is caused by cells being unable to break down dermatan sulfate and heparan sulfate during regular metabolism(Laberge‚ 2010). The build up of these two by-products disturbs regular cell functionality and this may cause damage within the tissues of organs (Laberge‚ 2010). Two major symptoms found within an individual with Hurler Syndrome are skeletal deformities and
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Marfan syndrome or not‚ which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln‚ in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However‚ his conclusions were eventually proven wrong. But despite the false accusations‚ Marfan syndrome does exist
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Tics and Tourette’s Syndrome Tics are sudden‚ uncontrollable movements or sounds that are repeated. Tourette’s is a distinct form of Tic‚ which involves repeated movements and sounds. Tourette’s Syndrome is a neurological disorder‚ affecting the Central Nervous System. Disorder is named for Dr. Georges de la Toilette‚ a French neurologist. In 1885‚ he first diagnosed an 85-year-old French noblewoman. Research suggests that Tourette’s syndrome is caused by unknown abnormalities in the cortex and
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Nephrotic Syndrome: Inflamed is No Game Rasmussen College Author Note This research is being submitted on March 7‚ 2014‚ for Kara Wall’s NUR1470C Maternal Child Nursing Course. Nephrotic Syndrome: Inflamed is No Game In nephrotic syndrome‚ it is essential to understand the function and inner workings of the kidneys. The human body requires blood to be circulated in order for organs and tissues to be perfused. The perfusion of blood is enriched with products such as plasma
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