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العنوان
DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY BY MLPA AND EVALUATING THE EFFECT OF NEGATIVE SMOKING ON PATIENT`S BEHAVIOR \
المؤلف
Ahmed, Nermeen Hamdy El-Azhary.
هيئة الاعداد
باحث / نيرمين حمدي الأزهري أحمد
مشرف / هالة إبراهيم عوض الله
مشرف / مروي إبراهيم شهاب
مناقش / مصطفى حسن رجب
تاريخ النشر
2020.
عدد الصفحات
187 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
أمراض الدم
تاريخ الإجازة
1/1/2020
مكان الإجازة
جامعة عين شمس - معهد البيئة - العلوم الطبية البيئية
الفهرس
Only 14 pages are availabe for public view

from 187

from 187

Abstract

Introduction: Duchenne Muscular Dystrophy (DMD) is the most common x-linked disease caused by mutations in the dystrophin gene. It is characterized by muscle weakness in early childhood, causing death before the age of 20 years. Multiplex ligation-dependent probe amplification (MLPA) had been reported to be a simple, rapid and reliable tool for detection of deletions and duplications in the DMD gene. Attention Deficit Hyperactivity Disorder (ADHD) had been reported in DMD patients. Tobacco smoking exposure is related to offspring behaviour.
Aim: This study aimed to characterize the mutational pattern among DMD patients by MLPA technique and to study the association of exposure to tobacco smoking and behavioral disorders among DMD patients.
Patients and methods: The study was carried out on 30 DMD patients. Peripheral blood was collected for MLPA and karyotype analysis. All patients were subjected to SWAN scale to diagnose ADHD and smoking questionnaire.
Results: According to the types of mutations found in the studied patients, Mutation analysis showed 65% deletion and 10% duplication, while 25% of the patients had neither deletion nor duplication. We found no statistical significance for negative smoking as a contributing factor for ADHD in DMD patients.
Conclusion: Accurate genetic and prenatal diagnosis are needed for families with history of muscular dystrophy to avoid having children with DMD. MLPA should be the initial diagnostic tool for detection of deletion or duplication. ADHD is the most common neurobehavioral comorbidity associated with DMD. Smoking during pregnancy has no direct effect on outcomes of all offspring, including ADHD, and alternative risk factors should be considered.