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Di george syndrome ppt Di george syndrome ppt Presentation Transcript

  • A Mutation on the 22 nd Chromosome
  • 1.
  •  Graduated 1946 from Temple University In WWII, served as a medical officer in Linz, Germany (where Adolf Hitler grew up) In 1953, became a professor at Temple He was a pediatric endocrinologist- deals with physical growth and sexual development in childhood He noted the immunological consequences associated with the absence of the thymus gland Published his findings in 1968 View slide
  •  Caused by a genetic mutation on 22nd chromosome that results in the deletion of a portion of it Autosomal dominant immunodeficiency Results in poor development of several body systems The underlying cause is a shrunken or missing thymus gland View slide
  • 2.  Contains 500 to 800 genes  Genes codes for the development of the thymus gland are missing  Region known as 22q11.2  Contains 30-40 genes
  • 3.
  •  Specialization in the 4. immune system Most active as a child and begins to atrophy in puberty as a result of increase in sex hormones Produce T- Lymphocytes  These are your white blood cells
  •  Shrinkage of parathyroid glands- results in hyposecretion of PTH (parathyroid hormone) Messes up regulation of calcium and phosphorus Bluish skin (poor circulation of oxygen) – cyanosis Delayed speech development Cleft palate can usually be surgically repaired Spasms of the mouth and throat (tetany) Frequent infections due to decline in immune system Low set ears, wide set eyes, or a narrow groove in the upper lip
  • Example of Cleft Palate Example of Cyanosis5. 6.
  •  Not an actual syndrome, rather a type of disorder Cardiac effects Abnormal facial features Thymic hypoplasia Cleft palate Hypocalcaemia 22 –refers to the chromosome
  •  DSG occurs in one infant per 4,000 born It is a lifelong condition that affects mostly children and infants Approximately one-third of affected adults experience recurring infections 7.
  •  Pitcher for the Chicago Cubs In 2009 Dempster and wife Jenny gave birth to daughter Riley Dempster who was born with Digeorge Syndrome. Dr.’s focus on Riley’s feeding and swallowing Tracheostomy and Passy-muir Valve Created “Dempster Family Foundation” for kids with Digeorge syndrome. Ryan was nominated twice for the Roberto Clemente award for his community service.
  • 1. MayoClinic. (2011, August 09). Digeorge syndrome. Retrieved from http://www.cnn.com/HEALTH/library/digeorge- syndrome/DS00998.html2. Jeffries, I. (n.d.). Who named it?. Retrieved from http://www.whonamedit.com3. Win, P. H., & Kaliner, M. A. (2010). Immunilogic aspects of digeorge syndrome. Retrieved from http://emedicine.medscape.com/article/135711-overview4. Bawle, E. V. (2010, August 11). Digeorge syndrome. Retrieved from http://emedicine.medscape.com/article/886526- overview5. Childrens Hospital of Wisconsin. (2011). Digeorge syndrome. Retrieved from http://www.chw.org/display/PPF/DocID/23047/router.aspm/d octor.cfm/2047.html
  •  1)Max Appeal. (n.d.). Supporting families affected by digeorge syndrome, vcfs and 22q11.2 deletion. Retrieved from http://www.maxappeal.org.uk/information/introduction_(faqs) 2)Chromosome 22 ideogram. (2006, January 06). Retrieved from http://www.springerimages.com/Images/Biomedicine/5-10.1186_1471-2407-6-2- 0 3) Tissot, R. (n.d.). www.uic.edu. Retrieved from http://www.uic.edu/classes/bms/bms655/lesson3.html 4)Thirdage.com. (n.d.). Retrieved from http://www.thirdage.com/hc/p/239516/what-is-removal-of-the-thymus-gland 5)Good Health Hub. (2011, November 24). Digeorge syndrome. Retrieved from http://goodhealthhub.com/digeorge-syndrome/ 6)Unsw embryology. (2011, October 13). Retrieved from http://php.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project _6 7) Polyvore. (2010). Retrieved from http://www.polyvore.com/cartoon_people_world/set?id=16805710
  •  Arroyave, L. (2010, August 08). Cubs ryan dempster hosting south beach fundraiser at joes seafood.Chicago Tribune. Retrieved from http://leisureblogs.chicagotribune.com/about-last- night/2010/08/cubs-ryan-dempster-hosting-south- beach-fundraiser-at-joes-seafood.html Rileys milestones. (2009, April). Retrieved from http://dempsterfamilyfoundation.org/about_family/ri leys_milestones/