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Articles by Hamid Galehdari
Total Records ( 2 ) for Hamid Galehdari
  Ali Mohammad Foroughmand , Hamid Galehdari , Mina Rasouli , Gholamreza Mohammadian and Mansour Mohammadi
  Identification of casual mutations in Hereditary Multiple Exostoses (HME) is important because of similar conditions in which multiple exostoses occur. Therefore mutation analysis can help to confirm the clinical diagnosis and to improve the management of therapy. HME is an inherited disorder of bone growth. HME can be referred to by various names such as Heredity Multiple Exostoses, Hereditary Multiple Osteochondromata, Multiple Carthaginous Exostoses, etc. People who have HME grow exostoses, or bony bumps, on their bones which can vary in size, location and number depending on the individual. HME is inherited in an autosomal dominant manner with an estimated prevalence of 1/50,000 in western countries. At least three loci (EXT1, EXT2 and EXT3) thought to be involved in this skeletal disease. Approximately 90% of affected families possess mutations in the coding regions of EXT1 and EXT2 genes and the majority of these mutations cause loss of function. EXT1 and EXT2 genes encode related members of a putative tumor suppressor family. In this first report from Iran we identified a frame shift mutation (1100-1101 insA) in exon 3 of EXT1 gene in a family being suspicious of HME. This mutation leads to a premature stop codon and previously not described. Additionally, we have found an unreported silent mutation in the exon six of EXT1 gene with uncertain significance.
  Najmaldin Saki , Hamid Galehdari , Mostafa Feghhi , Fatemeh Ardeshir Larijani and Fakher Rahim
  This study aimed to assess a meta-analysis of the association of XRCC1 polymorphisms with the risk of various ophthalmologic diseases in Asian population. This meta-analysis was performed by critically reviewing reveals 38 studies involving 1373 cases and 1745 controls. Among all the eligible studies, one focused on Arg194Trp polymorphism, nine described the Arg399Gln and no article investigated on Arg280His. There was a large between-study heterogeneity in ORs of individual studies of the dominant model (χ2 = 74.18, I2 =58.9%, p = 0.013) and the additive (χ2 = 56.18, I2 = 41.4%, p = 0.091) models, but a moderate heterogeneity in the recessive model (χ2 = 72.27, I2=78.8%, p = 0.000) was observed. So, we pooled the results using the random-effect analysis and found that Arg399Gln has a weak relation with ophthalmologic disease in the recessive (OR = 0.96, 95% CI: 0.64-1.44), the dominant (OR = 1.05, 95% CI: 0.82-1.33) and the additive (OR = 1.15, 95% CI: 0.77-1.70) and models. The present meta-analysis correspondingly shows that comprising diverse population is very important since susceptibility loci might vary indifferent ethnic groups. To ratify our findings, widespread studies with enlarged sample size and various populations are essential to explain the role of all polymorphism of XRCC1 genes in the pathogenesis of ophthalmologic diseases. Finally, our meta-analysis showed Arg399Gln variant was not associated with increased ophthalmologic diseases risk via dominant and recessive modes among Asian population.
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