Affecting about one in every forty-thousand people‚ Waardenburg syndrome (WS) is fairly rare. It is an umbrella which includes four genetic conditions‚ all caused by a mutated or altered gene. Each type affects the individual from birth. All types tend to cause some degree of abnormal pigmentation‚ hearing loss‚ and facial abnormalities (see figure 1)‚ and a few types create more serious concerns involving anomalies in the hands and arms‚ and life-threatening issues of the bowel. We are still learning
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Nitin Jacob A40531878 ESA 320 Film Paper December 6‚ 2011 The China Syndrome – Nuclear Power Plant Throughout my life I have always been interested in the theatre. I have enjoyed all types and forms of theatre. I have been too many plays and I have even attended an opera. My favorite form of theatre however is in the form of movies. The movies have been an escape from reality for me. It allows me to enter a world of fantasy and action‚ while being in a relaxed state of mind. I think
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Progeria‚ the premature fatal aging disorder in children‚ may be able to be reversed through Farnesyltransferase inhibitors (FTI) treatments. Formally known as Hutchinson - Gilford syndrome‚ Progeria is a genetic disorder that affects 1 in every 8 million babies born. The disorder is known for its unusual appearance of premature aging in children. Progeria was first discovered when it showed up in a child in 1886 by Dr. Hutchinson. The second case was later discovered by Gilford a year later
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Ehlers-Danlos Hypermobility Type: Pathophysiology and Treatment Abstract Ehlers-Danlos syndrome is a degenerative condition caused by the malformation of collagen within the body. Many different types of Ehlers-Danlos syndrome have been linked to different types of collagen malformation in different tissues. Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is the most common type of Ehlers-Danlos syndrome. HT-EDS is mainly characterized by marked joint instability and mild cutaneous involvement
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A symptom of ASD is when you struggle with social interaction and communication. Some children with ASD don’t babble or use any other vocal sounds‚ language development tends to be delayed in children with ASD‚ they may also lack awareness and interest in other children. They tend to play alone or gravitate towards a differently aged group instead of playing with others their age. They may find it hard to understand other emotions and feelings‚ and can have difficulties starting and/or taking part
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Reeflection Front Of the class: How Tourette Syndrome made me the teacher I never had‚ allowed me to know about an actual child’s life growing up with Tourette’s. While reading the book I actually felt the emotions he was feeling all his life growing up. It is incredible to know all that a child can do regardless of what is happening with them. Brad the main character of the book proves that rather you have a disability or not‚ what matters is how you set your mind to want to do things and complete
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Tourette’s disorder. (2005). Harvard Mental Health Letter‚ 21(12)‚ 4-5. This article tells of the history of Tourette syndrome and defines what Tourette syndrome is. It informs the reader the several common motor and vocal tics. These tics includes sniffing‚ throat clearing‚ rapid eye blinking‚ twitching of mouth and nose‚ and in some cases performing obscene gestures or words. This disorder is often diagnosed in children and adolescence‚ with the first symptom at about six years old. According
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What causes Down syndrome? Charlie Zammit To this day‚ there aren’t any known environmental or behavioral factors that cause Down syndrome. The human contains 23 pairs of chromosomes‚ so 46 individual ones. From each pair‚ one comes from your father‚ the other‚ from your mother. Down syndrome involves an abnormal cell division in chromosome 21. There are three types of abnormal cell division that can occur to cause Down syndrome; all of the three cell division abnormalities create a problem being
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Introduction Autism is “a developmental disorder that is characterized by impaired development in communication‚ social interaction‚ and behavior‚” (Dryden-Edwards‚ 2010). However‚ savant syndrome is a very rare form of autism that “occurs when a person with below normal intelligence displays a special talent or ability in a specific area‚” (Davidson‚ 2012). The criteria for DSM-IV is “organized into three categories of symptoms‚ conceptually approximating Wing and Gould’s (1979) triad of impairment:
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A Case Study on Compartment Syndrome of the Forearm in a soccer player Objective: To describe the evaluation‚ diagnosis‚ and current treatment of a men’s soccer player with compartment syndrome of the forearm. Background: The forearm is the most common site for compartment syndrome in the upper extremity. The compartments of the forearm include the volar (anterior or flexor)‚ and the dorsal (posterior or exterior). Both bone forearm fractures and distal radius fractures are common initial
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