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Study of IL-IB +3954 Polymorphism and its clinical associations in sickle Cell Anemia Pediatric Patients / Hesham Abdelkreem Mohmmed ; Supervised Rasha Abdelraouf Abdelaziz , Shahira Kamal Anis , Yasser Mohammed Sedky

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Hesham Abdelkreem Mohmmed , 2016Description: 148 P. : charts , facsimiles ; 25cmOther title:
  • دراسة التعدد الشكلى لجين الانترلوكين 1 بيتا 3954+ و علاقته الاكلينيكية بمرض انيميا الخلايا المنجلية [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics Summary: Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin- 1 beta (IL-1Ý) is important in acute and chronic diseases, and their single nucleotide polymorphisms (SNP) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1Ý SNP as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 50 SCA patients and 50 age, sex and ethnicity-matched healthy individuals. The SNP was identified by PCR-RFLP for IL-1Ý (+3954C / T) gene. Associations between these SNP and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1Ý SNP between patients with SCA and controls were similar. IL-1Ý +3954C / T SNP was associated with increased risk of elevated pulmonary arterial pressure, vaso-occulusive crisis, osteonecrosis and cholelithiasis. These data indicate that IL-1Ý gene SNP is associated with SCA complications among Egyptians patients and may act as genetic predictors of SCA clinical heterogeneity
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Item type Current library Home library Call number Copy number Status Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.M.Sc.2016.He.S (Browse shelf(Opens below)) Not for loan 01010110072674000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.M.Sc.2016.He.S (Browse shelf(Opens below)) 72674.CD Not for loan 01020110072674000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin- 1 beta (IL-1Ý) is important in acute and chronic diseases, and their single nucleotide polymorphisms (SNP) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1Ý SNP as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 50 SCA patients and 50 age, sex and ethnicity-matched healthy individuals. The SNP was identified by PCR-RFLP for IL-1Ý (+3954C / T) gene. Associations between these SNP and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1Ý SNP between patients with SCA and controls were similar. IL-1Ý +3954C / T SNP was associated with increased risk of elevated pulmonary arterial pressure, vaso-occulusive crisis, osteonecrosis and cholelithiasis. These data indicate that IL-1Ý gene SNP is associated with SCA complications among Egyptians patients and may act as genetic predictors of SCA clinical heterogeneity

Issued also as CD

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