Progeria

Progeria Gilford SyndromeHutchinson Professor Dr Monem Alshok College of Medicine , Babylon University

Case Report Progeria ,[object Object]

Case Report ,[object Object],[object Object],[object Object]

SIGNS AND SYMPTOMS ,[object Object]

Symptoms and signs develop within 2 yr and include : ,[object Object],[object Object],[object Object],[object Object],[object Object]

HGPS ,[object Object],[object Object]

PROGERIA ,[object Object],[object Object],[object Object]

Progeria Differential Diagnosis ,[object Object]

Other progeroid syndromes ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Other progeroid syndromes ,[object Object],[object Object]

Craniofacial abnormalities The patient Ammar Majid 23years old with evident craniofacial features

Sever skin manifestations Pemphigus We report a sever skin manifestations in the form of diffuse bullous eruption which respond to good dose of steroid

Ammar’s Sister with the same illness her age is 14 yrs

What is new in Progeria Researches?

Busch A, Kiel T, Heupel WM, Wehnert M, Huebner S., “Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants.” Exp Cell Res . 2009 May 11. ,[object Object]

April 2009: Linking Progeria and Normal Aging: Novel Insights ,[object Object],[object Object]

April 2009: Linking Progeria and Normal Aging: Novel Insights ,[object Object]

Fong LG, Vickers TA, Farber EA, Choi C, Yun UJ, Hu Y, Yang SH, Coffinier C, Lee R, Yin L, Davies BS, Andres DA, Spielmann HP, Bennett CF, Young SG , “Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides.” Hum Mol Genet. 2009 Apr 1. ,[object Object],[object Object]

Rodriguez S, Coppedè F, Sagelius H and Erikson M. "Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging”. European Journal of Human Genetics (2009), 1-10. ,[object Object]

Capell et al “A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a Progeria mouse model.” Proceedings of the National Academy of Sciences, Vol. 105, no. 41, 15902-15907 (Oct. 14 , 2008) ,[object Object]

Eriksson, et. al., “Reversible phenotype in a mouse model of Hutchinson-Gilford Progeria syndrome.” J. Med. Genet. published online 15 Aug 2008; doi:10.1136/jmg.2008.060772 ,[object Object]

Progeria

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