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040 _aEG-GiCUC
_beng
_cEG-GiCUC
041 0 _aeng
049 _aDeposite
097 _aM.Sc
099 _aCai01.11.28.M.Sc.2021.Ab.A
100 0 _aAbeer Shehata Mohamed
245 1 0 _aAssociation of plasminogen activator inhibitor (PAI) gene polymorphism and the severity of sickle cell disease SCD /
_cAbeer Shehata Mohamed ; Supervised Rasha Abdelraouf Abdelaziz , Iman Abdelmohsen Shaheen , Mohamed Abdallah Abdelmegied Abdallah
246 1 5 _aرابطة تعدد الأشكال الجينية للبلازمينوجين المنشط و شدة مرض فقر الدم المنجلى
260 _aCairo :
_bAbeer Shehata Mohamed ,
_c2021
300 _a185 P. :
_bcharts , facsimiles ;
_c25cm
502 _aThesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
520 _aIntroduction: Sickle cell disease (SCD) comprises a group of hemolytic anemias characterized by a complex pathophysiology. The clinical manifestations of SCD result from chronic hemolytic anemia and the development of vaso-occlusive events. An increased risk for arterial thrombosis has been associated with low fibrinolytic activity related to raised plasma levels of plasminogen activator inhibitor 1 (PAI-1). Objective: To evaluate the incidence of plasminogen activator inhibitor 1 polymorphism 4G/5G (-675 pb 4G/5G) in chromosome (7q22.1 - rs1799889) among a group of Egyptian sickle cell disease pediatric patients and its relation to clinical and laboratory presentation of the studied patients. Patients and methods: This is a cross-sectional study that was carried out on 105 Sickle cell disease patients from Hematology outpatient{u2019}s clinic and hematology department of Cairo University Children{u2019}s Hospital. Detailed history, physical examination, and laboratory investigationswere documented.Blood samples was collected and DNA extracted according to standard protocols.The PAI-1 4G/5G polymorphism was evaluated.Results: Fifty-eight % of the study patients were more males (58.1%)and the highest density of patients were living in Giza (41%). The percentage of patients with SS phenotype was higher (54.4%). Anemia was the most common presentation of SCD (56.2%) and all patients had VOC as a complication of SCD. According to severity patients were more likely to have moderate to severe disease (34.3% & 37.1%). The wild form of PAI-1 gene polymorphism (4G/4G) was the most common among patients with SCD. When comparing the three different type of PAI-1 gene polymorphism we found that a higher number of patients with the homozygous form (5G/5G) had leg ulcers (P = 0.049) and elevated liver enzymes (P = 0.006), and a higher number of patients with heterozygous form (4G/5G) had pulmonary hypertension and LV dilatation (P = 0.028),while the highest number of abnormal TCD was in the wild form (4G/4G), but with no statistical significant (p value= 0,076)
530 _aIssued also as CD
653 4 _aPAI-1
653 4 _aPolymorphism
653 4 _aSCD
700 0 _aIman Abdelmohsen Shaheen ,
_eSupervisor
700 0 _aMohamed Abdallah Abdelmegied Abdallah ,
_eSupervisor
700 0 _aRasha Abdelraouf Abdelaziz ,
_eSupervisor
856 _uhttp://172.23.153.220/th.pdf
905 _aNazla
_eRevisor
905 _aShimaa
_eCataloger
942 _2ddc
_cTH
999 _c83327
_d83327