Mohammed Sayed Ebraheem Awaad,  <br/><br/>
Association of Superoxide Dismutase (SOD2 Val16Ala) genetic polymorphism with Cardiac Problems in Egyptian Pediatric Beta-Thalassemia major patients /  
 ارتباط اشكال التعدد الوراثي لجين الديسموتيز فائق الاكسده (Ala16 Val SOD2) بمشاكل القلب في الاطفال مرضي انيميا البحر المتوسط الكبري المصريين /  
by Mohammed Sayed Ebraheem Awaad ; Supervised by Prof. Dr. Mona Mohamed Hamdy Mahmoud, Prof. Dr. Iman Abd El-Mohsen Shaheen, Prof. Dr. Rasha Abdel-Raouf Abdel-Aziz 
 - 140 pages :  illustrations ;   25 cm. +   CD. 
<br/><br/>Thesis (M.Sc.)-Cairo University, 2023.   
<br/><br/>Bibliography: pages 118-140.  
<br/><br/> β-Thalassemia major continues to be a major cause of<br/>morbidity and mortality with improving outcome due to advances in<br/>researches and treatments. This study was designed to detect the<br/>association of the antioxidant enzyme Super Oxide Dismutase 2 (SOD2)<br/>Val16Ala (rs4880) genetic polymorphism with cardiac problems in<br/>Egyptian children with β-Thalassemia major.<br/>Results: A total number of 60 pediatric patients with β-Thalassemia<br/>major with age ranged from 8-18 years were genotyped for the SOD2<br/>Val16Ala (rs4880) polymorphism. Also, Echocardiography study was done<br/>to them to assess cardiac problems related to contractility and chambers<br/>size. LVEDD: was high in 10 (38.5%) patients, 8 (26.7%) patients and 2<br/>(50.0%) patients with means 46.12 ± 4.55, 46.97±5.77, 48.50 ±7.51<br/>respectively for AA, AG and GG groups, LVESD: was high in 10 (38.5%)<br/>patients, 8 (26.7%) patients and 2 (50.0%) patients with means of<br/>30.69±4.69, 29.40±6.53, 32.0±7.16 respectively for AA, AG and GG<br/>groups, IVSD: was high in 10 (38.5%) patients, 10 (33.3%) patients and 3<br/>(75%) patients respectively with means 0.83±0.19, 0.84±0.23, 0.98±0.17<br/>for AA, AG and GG groups, LVPWT: was high in 17 (65.4%) patients, 16<br/>(53.3%) patients and 4 (100%) patients respectively with means<br/>0.83±0.19, 0.80 ± 0.15, 1.09±0.25 for AA, AG and GG groups. Regarding<br/>cardiac function: EF was low only in 1 (3.8%) patient in AA group, E/A<br/>ratio: was low only in 1 (25%) patient in GG group. Results showed no<br/>association between SOD2 Val16Ala (rs4880) genetic polymorphism and<br/>cardiac problems with a P-value > 0.05.<br/>  أجريت هذه الدراسة على 120  من الاطفال بقسم امراض الدم  بمستشفى أبو الريش للاطفال بجامعة القاهرة <br/>اجريت الدراسة لمعرفة  العلاقه بين الطفرة الجينية لانزيم الدسموتيز فائق الأكسدة ومشاكل القلب للاطفال المصابون بمرض أنيميا البحر المتوسط الكبرى المصريين.<br/> 
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<br/><br/><br/>Text in English and abstract in Arabic & English. 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Pediatrics
<br/><br/><label>Subjects--Index Terms: </label>Thalassemia  SOD2  Cardiac Problems  
<br/><br/><label>Dewey Class. No.: </label>618.92