Paul Keel CDV 106 Cassandra Johnson December 2‚ 2013 Script for Fragile X Presentation Slide 1. FRAGILE X SYNDROME Slide 2. Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning‚ autistic-like behavior‚ hyperactivity‚ and a distinctive physical appearance Slide 3. The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a
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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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April 30‚ 2005 Micro. Comp. Shaken Baby Syndrome Imagine yourself as a sweet‚ innocent‚ precious little baby. You are totally dependent upon adults to give you what you need and most importantly love. Your only means of communication is crying so you cry when you need to be fed‚ when you need your diaper changed‚ when you aren’t feeling so well‚ or when you just want some attention. You are crying and someone comes over to you. They pick you up‚ but instead of holding you and comforting
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general adaptation theory (GAS). [pic] The General Adaptation Syndrome (GAS) In order to develop a general theory for the physiological response of humans and animals to stress‚ Hans Selye‚ former director of Experimental Medicine and Surgery at the University of Montreal‚ performed an integrated analysis of the effects of stress on adrenal gland function. He called his model of stress adaptation the General Adaptation Syndrome or GAS. The GAS was thought by Selye to outline how the organism
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advantages and disadvantages? Budd Chiari Syndrome •Clinical term used to describe the manifestation of hepatic venous outflow obstruction •Secondary to hepatic vein thrombosis •Or to the narrowing/occlusion of the inferior vena cava (Khan 2009‚Val DC 2003) Ostial stenosis web thrombus Abdominal vein Liver Stomach Gallbladder Enlarged caudate lobe Inferior vena cava Portal vein (Menon et al.‚ 2004) Budd Chiari Syndrome • Primary type -Endoluminal venous (I.e. Thrombosis
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1. Explain what must happen in order for Greg and Susan to have a child with O type blood and nail-patella syndrome. Greg needs to pass down his chromosome 9 which carry the alleles‚ n and i. Susan also has the n and I alleles on chromosome 9. If both these alleles from both parents are passed down‚ it will create the allele Nnii which produced the blood type O and nail patella syndrome. 2. Determine all possible parental and recombinant gametes produced by Greg and Susan. Greg’s parental
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Polycystic Ovarian Syndrome The most common female endocrine disorder is Polycystic Ovarian Syndrome (PCOS). As reported by the Polycystic Ovarian Syndrome Association‚ PCOS is the imbalance of hormones in a women’s body which can lead to menstrual cycle changes‚ cysts in the ovaries‚ trouble getting pregnant‚ and other health changes (What is PCOS‚ 2009). The cause of this endocrine disorder is unknown‚ however‚ according to the National Institute of Health (NIH)‚ it is connected to changes in
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Alien Hand Syndrome Alien Hand syndrome‚ also known as Anarchic Hand syndrome and Dr. Strangelove syndrome‚ is a neurological disorder in which a person’s hand seemingly has a mind of its own. The person will feel normal sensation‚ but will have no conscious control of their afflicted hand or hands. This syndrome is best documented when a person has the two hemispheres or their brain surgically separated‚ a routine surgery for those with epilepsy. A person with alien hand syndrome can feel
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Patau syndrome is a disorder that occurs due to the appearance of a person’s thirteen chromosome three times (trisomy 13) instead of only twice in the cell. In some cases of the disorder‚ only a select percentage of the cells display the third thirteen chromosome while others contain the average amount of pairs‚ this is known as mosaicism. The extra chromosomal material in the cell can lead to many problems in the developmental stages of the humans life‚ these developmental issues cause severe mental
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Shwachman Diamond Syndrome (SDS) is an inherited condition that affects mainly the bone marrow‚ pancreas‚ and skeletal system of the human body. Bone marrow produces new blood cells; however‚ in a patient with SDS‚ the bone marrow does not make all of the types of white blood cells making the body more vulnerable to infection. The pancreas produces enzymes that help break down and use nutrients from food. SDS results in the pancreas not producing enough of these enzymes‚ which makes it hard to digest
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