Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This essay will focus on the etiology‚ clinical manifestations and anatomic alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair-like structures found in many organ systems including the respiratory and reproductive systems. It was diagnosed
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Charge Syndrome Introduction Charge Syndrome is a specific collection of non-randomly occurring congenital anomalies. The acronym CHARGE actually stands for the major features of this syndrome. The letter C stands for coloboma of the eye‚ H is heart defects‚ A stands for atresia of the choanae‚ R is retarded growth and development‚ G stands for genital abnormalities and lastly letter E stands for ear anomalies and/deafness. The cause of this syndrome may be genetically heterogeneous‚ but
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Exceptionality Report: Angelman Syndrome The Exceptional Child Andrea Gamber-Smith Dr. Harry Angelman discovered the disease that came to share his name‚ Angelman Syndrome in 1965. Angelman syndrome is impossible to diagnose until approximately the age of three to seven when symptoms become evident. The features of Angelman’s syndrome include a stiff body‚ little or no speech‚ constant giggling or laughter‚ and an easily excitable personality. There are
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What is Turner’s syndrome? • A genetic disorder which only affects and occurs in females • It is a result of only one X chromosome present in the gamete (monosomy X ) • T.S can also occur if one of the sex chromosomes is partly missing or rearranged • This missing chromosome is responsible for the developmental affects • There is an extremely small chance of the fetus actually surviving How is a person diagnosed? • A person can be diagnosed by taking a sample of blood‚ amniotic fluid or
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Art syndrome is a disorder that affects the neurological system. It most commonly affects the boys of families with the inheritance trait. Females are affected as well‚ however‚ not as severe as the males of families. This disorder is significant not only because it is rare but because it is interesting that the disease causes more difficulties and problems in the males than in females. A fact that’s most commonly ask when introduced to this amazing‚ special‚ yet rare neurological disorder. To
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The primary intervention in the management of dysmetabolic syndrome consists of lifestyle modifications such as cessation of smoking‚ healthy eating of calories restricted diet and increase in physical activity (Falentin‚ 2010). In dysmetabolic syndrome‚ the main emphasis is on reducing the individual risk factors especially in patients identified as high risk of cardiovascular disease and T2DM. Riediger and Clara (2011)‚ state the importance of doctors using a screening tool for other risk factors
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thoroughly? yes Corrie Nicholas Sedita English 101 November 25‚ 2012 Stockholm syndrome: Cause and Effect Stockholm syndrome; an issue that lends it name from a 1973 robbery of Kreditbanken in Stockholm‚ Sweden‚ in which two robbers held four bank employees hostage from August 23 to 28. These robbers shared a space with their victims and became emotionally attached and even defended them after. Today this syndrome is viewed as a psychological response to a situation where the victim has had their
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Williams syndrome also recognized as Williams-Beuren syndrome is a genetic disorder caused by a deletion of more than twenty five genes from chromosome 7. Although Williams syndrome is often non-hereditary‚ the chances of the syndrome being passed on if an individual with Williams syndrome has a child are fifty percent. Individuals born with Williams syndrome often possess distinctive facial features which make the syndrome easily recognized. These features include wide spaces between their teeth
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Introduction This paper will explore the case study of Suzanne‚ an independent living 25-year-old woman with Downs Syndrome that presents with progressively worsening congenital heart and lung abnormalities. She has been referred to a transplant center to be evaluated for a possible heart-lung transplant. The transplant center will be in charge of determining whether or not she will be able to handle her post-transplant care. In order to make this determination‚ “A Guide to Moral Decision Making”
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Asperger’s Syndrome Today there are many different types of disabilities and syndromes. When you have a child to be diagnosed with a disability or a syndrome life can suddenly become overwhelming. This is especially true if they have been diagnosed with Asperger’s Syndrome. Parents sometimes feel guilty because their child has a disability or syndrome. Parents may feel that they are responsible for their child’s disability or syndrome. Parents may feel guilty about their child being diagnosed
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