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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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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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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Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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Munchausen Syndrome 1 Running head: Munchausen Syndrome Munchausen Syndrome by Proxy 5 References Author: Ibrahim Abdulhamid‚ MD‚ Assistant Professor of Pediatrics‚ Wayne State University; Director of Pediatric Pulmonary Medicine‚ Clinical Director of Pediatric Sleep Laboratory‚ Children ’s Hospital of Michigan Coauthor(s): Patricia T Siegel‚ PhD‚ Assistant Professor‚ Departments of Pediatrics‚ Psychiatry and Behavioral Neurosciences‚ Wayne State University School of Medicine Contributor
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Cushing Syndrome Sometimes called hypercortisolism. Cushing s syndrome is a hormonal disorder caused by prolonged exposure of the body s tissues to high levels of the hormone cortisol. Causes Pituitary Adenoma Pituitary adenomas cause 70 percent of Cushing s syndrome cases‚ excluding those caused by glucocorticoid use. These benign‚ or noncancerous‚ tumors of the pituitary gland secrete extra ACTH. Most people with the disorder have a single adenoma. Ectopic ACTH Syndrome Some benign
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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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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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1. What year was the first documented case? 1961 (Davis) 2. How was williams syndrome identified? Williams Syndrome was identified by physical and mental characteristics. (Davis) 3. Who was the doctor/Patient? Dr. J.C.P. Williams‚ a cardiologist in Auckland‚ New Zealand. (Davis) 4. Are there any famous people with Williams Syndrome? There aren’t any well-known celebrities with Williams Syndrome. 5. What body systems or part of the body does this disorder affect‚ explain how
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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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