Down syndrome is a genetic disorder‚ often referred to as trisomy 21 because the cells for chromosome 21 are trisomic‚ meaning an individual with Down syndrome would have 47 chromosomes in all of their body cells. Down syndrome is a genetic disorder‚ there are 3 different types of chromosomal changes which can lead to Down syndrome: complete trisomy 21‚ whereby the nondisjunction occurs during the formation of the egg or sperm cells meaning all body cells will have 47 chromosomes. This is the most
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McMichael 1 Klinefelter ’s Syndrome Kayla McMichael September 30‚ 2013 McMichael 1 Many men are becoming irritable‚ tired with energy levels at a all time low and wondering what could be wrong with them. A lot of studies are showing up that Klinefelter ’s is what they have. Klinefelter ’s Syndrome is a chromosomal disorder that only affects males. A normal male has and X and a Y chromosome in the 23 pair. However‚ a male with Klinefelter ’s Syndrome has an X‚ Y and another X. “It
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The diagnosis of Dravet Syndrome is based on clinical criteria‚ namely the onset within the first year of life of prolonged and repetitive febrile or afebrile‚ generalized or unilateral clonic seizures‚ in association with other seizure types‚ delay in psychomotor development‚ and behavioral disorders.4 It must be emphasized that the diagnosis is entirely clinical‚ and can be proposed even in the absence of any identifiable mutation of the SCN1A gene during genetic analysis.4 It is also important
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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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Kearns-Sayre syndrome (KSS) it is an uncommon mitochondrial myopathy and multisystem disorder that affect the heart‚ eye‚ and the body muscles it is characterized by a three signs including onset before age 20 years ‚pigmentary retinopathy and progressive external ophthalmoplegia (PEO) 1‚2‚3 The other clinical features that accompany with this syndrome include Cerebrospinal fluid (CSF) protein elevation or cerebellar ataxia‚ dementia‚ deafness‚ proximal myopathy‚ short stature furthermore
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Wernicke Encephalopathy and Korsakoff Syndrome Rasheema Douglas School Of New Resources Wernicke Encephalopathy and Korsakoff Syndrome Wernicke Encephalopathy and Korsakoff Syndrome are the acute and chronic stages of the same disease abbreviated as (WKS). (WKS) is a memory brain disorder that can result if there is a very low amount of Vitamin (B1) or Thiamine entering to the brain
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Baller-Gerold Syndrome is a genetic disorder that causes major physical debilitations and can cause development delays‚ or even at times learning or behavioural problems. It is a disease that is caused by a gene mutation‚ and at times the environment (NORD‚ 2006). The gene that is affected RECQL4‚ in one of the autosomal chromosomes (Genetics Home Reference‚ N.D). It causes changes to the appearance‚ of the person who unfortunately inherited the trait‚ in ways that they have deformed or disfigured
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Goodpasture’s syndrome (GS) is a rare disease‚ identified by Dr. Ernest Goodpasture in 1919 He described the syndrome during the influenza pandemic of 1919 when he reported on a patient who died from bleeding in the lungs and kidney failure. The incidence of Goodpasture is estimated to 1 case per million per year. This disease occurs more commonly in white people than in black people and is widespread in men than in women. Goodpasture syndrome is a pulmonary-renal syndrome‚ which is a group of acute
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Goldratt‚ E. M. 1990. The Haystack Syndrome: Sifting Information Out of the Data Ocean. New York: North River Press. Summary by Sean Murphy Master of Business Administration Program University of South Florida‚ Spring 2003 Theory of Constraints Main Page | The Goal | What is this thing called TOC? Written in 1990‚ this book is still ahead of its time. The issue of data and information incongruence continues to be a hot-button issue in every boardroom. A "must" for every manager concerned
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response of the hospital staff to their Down syndrome baby‚ “Instead of congratulations‚ we were told‚ “I’m so sorry.” In place of flowers and balloons‚ the hospital sent a chaplain” (para. 8). He goes on to describe the beautiful life that his daughter‚ who struggles with Down syndrome‚ lives. He also quotes Alberto Costa‚ associate professor at the University of Colorado Denver School of Medicine‚ responding to new tests that could reveal Down syndrome in unborn children‚ ‘The parent in me definitely
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