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
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
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
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/