Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
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Cotard syndrome was named after Jules Cotard. A French neurologist he called the condition le délire de négation (“negation delirium”). There are multiple levels from mild to severe. Cotard had formed a new type of depression‚ where one denies their own existence. When the area of the brain that recognizes faces is disconnected‚ with the area that associates emotions with those faces. This can also be caused from major depression with psychotic features‚ schizophrenia‚ or organic
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Myelodysplastic syndromes have historically been subjected to incomplete definitions and biologic understanding of disease.1‚2 With the better understanding of this disease by morphology‚ cytogenetic evaluation and molecular testing it is now easier to categorize this disease. Myelodysplastic syndrome could not be described as a distinct syndrome until the first half of the 20th century when bone marrow biopsies were started in routine. Still‚ early suggestive reports can be found in the medical
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conducted around the topics of crush syndrome and amputation‚ which depending on the severity of the crush can coincide with one another. This paper will discuss various medical aspects‚ treatment‚ assessment‚ psychosocial/psychological issues and some research data pertaining earthquakes related to amputation and crush syndrome. Crush injuries can occur through the means of a natural disaster‚ acts of war‚ traffic collisions‚ as well as industrial accidents. Crush syndrome differs from a crush injury depending
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Sundowning Syndrome Etiology and Treatment 12/3/2010 Anatomy & Physiology sundowning syndrome: etiology and treatment An escalation in disruptive behaviors in the late afternoon and early evening among institutionalized patients suffering from dementia and Alzheimer’s disease has been a recognized phenomenon for over 60 years (Bachman & Rabins‚ 2006). The timing of the onset of disruptive behaviors has led to calling this phenomenon sundowning‚ sundowning syndrome‚ and nocturnal delirium
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about 4% of Down syndrome cases. There are no distinct cognitive or medical differences between people with translocation trisomy 21 and those with complete trisomy 21. ! What chromosome is affected by this disorder? !Chromosome 21 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. The trisomy of the 21st chromosome causes Lets go more in depth about Down Syndrome. Types of Down Syndrome. The scientific name for down syndrome is trisomy 21. With
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Rett Syndrome Abstract Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive‚ and that begin in early life and influence multiple areas of development. Rett syndrome‚ including the age of onset and the severity of symptoms‚ varies from child to
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Down Syndrome Learning Disability- a childhood disorder characterized by a difficulty with certain skills. Difficulty in such skills as reading or writing in individuals with normal intelligence. Learning disabilities affect the ability to interpret what one sees and hears or the ability to link information from different areas of the brain. These limitations can show up in multiple different ways. These disabilities extend to schoolwork and can delay learning to read or write. Birth Defect-
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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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Down syndrome Down syndrome is one of the most common genetic disorders‚ occurring one in every 600 births (Davis‚ 2008). 3‚500-5‚000 children are born with Down syndrome every year in the United States alone (Pueschel‚ 2008). Down syndrome or mongolism was first identified by John Langdon Down in 1866 although the syndrome has been around for many centuries. In fact‚ according to many paintings dated back to the sixteenth century show pictures of children with Down syndrome like features (Carr
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