Down’s Syndrome Down’s syndrome is a genetic condition involving an extra chromosome‚ this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder‚ Down’s strikes 1 out of 600 babies. In 95 percent of all cases‚ the disorder originates with the egg‚ not the sperm‚ and the only known risk factor is advanced maternal age-at age 35‚ a woman has 1 chance in 117 of having a baby with
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is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
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METABOLIC SYNDROME LEARNING OBJECTIVES At the end of lecture students should know – Definition of Metabolic Syndrome – Visceral obesity is an indicator of the syndrome and an independent marker for CVD – Current and some potential future treatment options. METABOLIC SYNDROME CONCEPT (Not New) • 1923 - Kylin first to describe the clustering of hypertension‚ hyperglycemia‚ hyperuricemia • 1936 - Himsworth first reported Insulin insensitivity in diabetics • 1965 - Yalow and Berson
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According to the national heart‚lung‚and blood institute‚ in 2003‚ approximately 40‚000 infants and 150‚000 adults were reported with RDS meaning about one person out of 6‚800 has RDS. It is very important to be careful with this syndrome because if an infant or breathing machine tried to apply some pressure to the lungs there is a high chance of it to rupture causing air to leak making the lung collapse sinking in even farther which turns it into a more severe case‚ usually this
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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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Inside Rett Syndrome Christina Wenn April 10‚ 2013 Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood‚ and one of the twins‚ Morgan‚ was diagnosed with Rett syndrome as an infant. I started babysitting the twins‚ Morgan and Ryan‚ when I was a freshman in high school‚ but I mainly took care of Morgan. She would giggle and smile‚ but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper
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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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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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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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