EHLERS-DANLOS SYNDROME

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EHLERS-DANLOS SYNDROME By. Erik, Janelle, Kay and Ryan http://geneticpeople.com/wp-content/transfers/2009/09/untitled1wk3.jpg

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CLASSICAL (TYPE I & II) SYMPTOMS - Skin Hyperextensibility (Stretchy (like Laffy Taffy!)) - Skin is smooth to the touch, smooth and simple to wound and tear - Joint Hyper Mobility - Leads to sprains, separations, and subluxations - Slow and poor injury recuperating prompting to wide scarring - Muscle exhaustion and agony - Heart valve issues including mitral valve prolapse and aortic root enlargement Classical Type I and II influences 1 in 10,000 to 20,000 individuals. Work Cited from Mayo Clinic

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HYPERMOBILITY (TYPE III)  SYMPTOMS - Loose, unsteady, joints with numerous separations. - Easy wounding - Muscle weakness and torment - Chronic Degenerative joint infection - Advanced untimely osteoarthritis with interminable agony - Heart valve issues including mitral valve prolapse and aortic root widening Hypermoblitiy influence approximatley 1 in 10,000 to 15,000 individuals

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VASCULAR (TYPE IV) SYMPTOMS - Fragile veins and organs that are inclined to tearing and break - Thin, translucent skin that wounds effectively - Characteristic facial appearance, including projecting eyes, thin nose and lips, indented cheeks and a little jaw - Collapsed lung (pneumothorax) - Heart valve issues including mitral valve prolapse and numerous others http://www.ehlersdanlosnetwork.org/vascular-chest.jpg The Vascular sort of EDS is the most risky to the general population it influences. It is likewise one of the rarest of the six sorts influencing 1 in 100,000 to 200,000.  There are two different sorts of EDS yet they are to a great degree uncommon and not very much characterized.

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GENETIC OCCURENCES The diverse conditions that add to the hereditary event of Ehlers-Danlos Syndrome.  Autosomal prevailing legacy where the child has a half shot of acquiring the disease from the one parent has a half possibility of passing on the malady. Autosomal passive legacy happens when both guardians convey one duplicate of the transformed quality will have a 25% passing on the quality with every pregnancy. X-connected prevailing legacy happens contrastingly in men and ladies in view of the X and Y chromosomes.   The male passes on his Y chromosome to the greater part of his children and his X chromosome to the greater part of his girls. In this way, the children of a man with a X-connected predominant disorder won't be influenced, however the greater part of his girls will inherit the condition.  Women pass on one or the other of her X chromosomes to every tyke. Thusly, a lady with a X-connected prevailing issue has a 50 percent chance of having an influenced little girl or child with each pregnancy.   

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GENETIC OCCURENCE (CONTINUED) X-connected passive legacy : The likelihood of passing on  X-connected passive disorder  is additionally unique amongst men and ladies. The children of a man with a X-connected passive issue are not affected, and his little girls will convey one duplicate of the changed quality With every pregnancy, a lady who conveys a X-connected latent issue has a 50 % shot of having children who are influenced and a half possibility of having girls who convey one duplicate of the transformed quality. Codominant  inheritance :  Both guardians give an alternate variant of a                                           gene, and both impact the subsequent hereditary characteristic. The                                               characteristics depend which  versions of the quality are passed from guardians to the kid Mitochondrial legacy : Mitochondrial  issue can influence  both guys and females, no one but females can pass transformations in mitochondrial  DNA to their youngsters

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ED disorder is an inherited genetic disorder that influences the qualities by bringing about changes in the qualities. ( ADAMTS2, COL1A1, COL1A2, COL3A1 ,COL5A1, COL5A2, PLOD1, and TNXB,  qualities.) The Collagen qualities provide blueprints for the gathering of collagens from protein. These particles give structure and quality to connective tissues all through the body. Different qualities ADAMTS2, PLOD1, and TNXB give the guidelines to the proteins to work with the collagen. These hereditary changes cause interruptions to the structure, and additionally collagen creation preparing issues. The hereditary deformity debilitates connective tissues in the bones, skin, and different parts of the body. http://medpediamedia.com/u/Col3a1.jpg/Col3a1.jpg

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EDS IN THE MEDIA In this specific article we take after a young lady named Fiona and her adventure through EDS. By the age of 20, Fiona Kennedy was disengaging joints – elbows, knees, lower legs, shoulders, toes, ribs and fingers – 1000 times each year. At this age, the condition got ugly and the mass separations started – she once had 18 bear disengagements in one day. In any case, Fiona declined to give the torment a chance to improve of her, in spite of the fact that she took no painkillers. Presently 27, Fiona is making the most of her initial couple of weeks without agony – or disengagements – because of spearheading work by specialist Gordon Mackay. A brief span back he did the remainder of ten operations, which started in March 2007, utilizing strategies he consummated while chipping away at harmed sports stars. Mr Mackay, one of the prime supporters of the SPACE Clinic on Dalry Road alongside previous rugby star Gregor Townsend, clarifies: "We utilized keyhole surgery with the goal that we could concentrate on the extended tissue, which we could tighten."   For Fiona it has, up until now, demonstrated a total cure from a condition which initially surfaced when she was 14. Venturing out of an auto, she disengaged her kneecap. "I was in mortar for two or three weeks however I just thought it was one of those things." http://edinburghnews.scotsman.com/highlights/Pioneering-operation helps-Fiona-see.4821466.jp

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EDS IN THE MEDIA In serious cases the littlest everyday undertakings are about incomprehensible. A young lady named Lisa has the infection and discovers it about difficult to play computer games. She is continually disjoining her thumb as she plays the diversion. Rather than surgery she purchased a particular glove to help shield her thumb from disengaging. Lisa's glove appeared to be like this. http://edinburghnews.scotsman.com/highlights/Pioneering-operation helps-Fiona-see.4821466.jp

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Another young girl named Olivia has the same muatation. She couldn't go outside and play without separating her knees or hips. Rather than surgery she ran with a Second Skin Suit made out of Lyrcra. The suit holds her body together firmly so the hazard for separation is nearly non-existent. New developments in innovation are making new props for every single distinctive kind of EDS. The supports go from little finger props to full suits. http://3.bp.blogspot.com/_KOnQqawDIkY/SqkbBVeCMEI/AAAAAAAAAM4/miLOxf_QYhE/s320/IMG_4098.JPG members.dcsi.net.au

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TEST QUESTION 1 & 2 Q1-What sort of Elhers Danlos Syndrome is the most genuine? Q2-Which sort has side effects that incorporate Chronic degenerative joint malady and progressed untimely osteoarthritis? Answer decisions A.Classical Type I and II B. Hypermobility Type III C. Vascular Type IV

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TEST QUESTION 3 & 4 Q3-What is the objective of the new surgery treatment for EDS? Q4-What body framework are the mutated qualities influencing? A. Expanding bloodflow B. Extending tight tissue C. Expanding endorphins D. Fixing extended tissue A. Digestive B. Regenerative C. Strong D. Excretory

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CREDITS This introduction was conveyed to you by: Kay Bolerjack, Ryan Butler, Erik Holfelder and Janelle Kloosterman in the Summer semester of 2010.

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CREDITS Kay Bolerjack-Research , content & photographs Ryan Butler/Erik Holfelder-Worked determinedly on the manifestations, composing part and substance of this introduction. Janelle Kloosterman-Research, media & photographs.

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OUTLINE:  Introduction (Laffy Taffy/Stretches)  Introduction to ED disorder (Ryan) Types and side effects Current data and research Genetic Occurences Options for adapting to disorder (Article about young lady treatment) Article of intrigue/logical article association inquiries concerning this hereditary infection Work refered to

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WORK CITED Center for Genetics Education. "Ehlers-Danlos Syndrome."  Genetics Home Reference . N.p., 25 July 2010. Web. 26 July 2010. http://ghr.nlm.nih.gov/condition/ehlers-danlos-disorder . Place for Genetics Education. "If a hereditary issue keeps running in my family, what are the odds that my youngsters will have the condition?" Genetics Home Reference . N.p., 25 July 2010. Web. 26 July 2010. http://ghr.nlm.nih.gov/handbook/legacy/riskassessment . Mayo Clinic Staff. "Ehlers-Danlos Syndrome Symptoms." Mayo Clinic . N.p., 8 July 2010. Web. 26 July 2010. <http://www.mayoclinic.com/wellbeing/ehlers-danlos-disorder/DS00706/     DSECTION=symptoms> .

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WORK CITED Sheen, Volney L., and Christopher A. Walsh. "Periventricular Heterotopia: New Insights into Ehlers-Danlos Syndrome ." Clinical Medical Research . N.p., 7 Sept. 2005. Web. 26 July 2010. <http://www.clinmedres.org/cgi/content/full/3/4/229>. Vickers, Judy. "Pioneering operation helps Fiona see the back of every day dislocations." Edinburgh Evening News . Johnston Press Digital Publishing, 24 Dec. 2008. Web. 26 July 2010. <http://edinburghnews.scotsman.com/highlights/Pioneering-operation helps-Fiona-see.4821466.jp>.

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