Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5‚ which affects facial development. About 40 percent of the time‚ one parent has the Treacher Collins Syndrome gene. Geneticists can now determine whether the Treacher Collins gene is a new mutation or one that has been passed on. There are new studies being done to see about the possibilities of there being other genes that could be involved with this syndrome. Treacher Collins Syndrome is believed to be
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Klippel–Feil syndrome is a very rare disease. It was reported for the first time in 1912 by Maurice Klippel and André Feil. It has been characterized by the fusion of any 2 of the 7 cervical vertebrae. The syndrome occurs in a heterogeneous group of patients unified only by the presence of a defect in the formation or segmentation of the spine. Klippel–Feil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is
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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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How foreign is Foreign Accent Syndrome? Christina Stone ENG101 Mr. Link Tuesday October 30‚ 2012 Foreign Accent Syndrome is a rare medical disorder in which a patient develops what sounds like a foreign accent. Further investigation reveals a significant increase in the number of cases over the past few years. This essay will consider some of the reasons why Foreign Accent Syndrome also known as FAS has had such a rapid escalation. The question of whether FAS is
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Battered Women Syndrome By Alexus Ellis Francine Hughes‚ Angelique Lyn Lavallee‚ and Angelina Napolitano. What do these women have in common? They all have used the battered women defense in court. Some might say this defense is make believe‚ claiming it isn’t a real syndrome and is an excuse for murder. Let me put you in a hypothetical situation. You have been abused by your husband since you got married and one night he takes the abuse to another level. He is throwing things left and right‚ breaking
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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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