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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22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
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agenda for the day was my personal favorite‚ “P.E.”‚ short for Physical Education. The class started out with our muscle-loosening stretches‚ and then moved on to one of my all-time favorite sports‚ basketball. The sparkling‚ brand new “Kobe Bryant 8’s” were a necessity for my feet in order to play. As I was tying the knots to begin‚ my best friend Ryan Decker glided swiftly into class with his “Heely’s”‚ which are shoes made with a wheel incorporated into the sole of the shoe. What did I do‚ when
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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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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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Marfan syndrome is a multisystem disorder resulting with clinical manifestations typically involving the skeletal‚ ocular‚ and cardiovascular systems. Skeletal abnormalities of Marfan syndrome include disproportionate overgrowth of the long bones‚ anterior chest deformity due to overgrowth of the ribs‚ and overgrowth of the fingers. A reduced upper-segment to lower-segment ratio to arm span to height ratio of greater than 1.05 due to the overgrowth of the arms and leg is also a major criterion for
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Share SCCM Nursing Care of Patients with Alcohol Withdrawal Syndrome Sabrina D. Jarvis‚ DNP‚ ACNP-BC Brigham Young University Provo‚ Utah‚ USA Kent D. Blad‚ DNP‚ ACNP-BC‚ FCCM Brigham Young University Provo‚ Utah‚ USA Alcoholism is prevalent in up to 20% of inpatient adults‚(1) presenting a significant challenge when providing nursing care for the critically ill patient who develops acute alcohol withdrawal syndrome (AWS). Many of these patients are already compromised by underlying
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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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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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