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العنوان
Update in management of osteogenesis imperfecta /
المؤلف
El-Gendy, Mostafa Ahmady Abbas.
هيئة الاعداد
باحث / مصطفى أحمدي عباس الجندي
مشرف / محمد مجدي البطوطي
مشرف / محمد عبدالوهاب السعيد
مشرف / عبدالرحمن أحمد الجنايني
الموضوع
Fractures, Spontaneous-- epidemiology. Fractures, Spontaneous-- diagnosis.
تاريخ النشر
2011.
عدد الصفحات
79 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب
تاريخ الإجازة
01/01/2011
مكان الإجازة
جامعة المنصورة - كلية الطب - Department of orthopedics
الفهرس
Only 14 pages are availabe for public view

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Abstract

The medical team involved in treating a patient with OI faces several challenges, including early prenatal diagnosis, formulation of a prognosis, and attenuation of the handicap. Early prenatal diagnosis is possible only with severe forms of OI. The formulation of a prognosis based on genetic features remains difficult because the multidisciplinary approach to OI has underpinned the recent advances in medical therapy. Nevertheless, it is the advent of bisphosphonate therapy that has provided a step change in the quality of life for affected children and their families. Bisphosphonate treatment associated with internal fixation of long bones significantly improves the quality of life in patients with OI. Clearly, these methods deserve preference over other techniques such as hematopoietic bone marrow transplantation, which have not been well evaluated and raise ethical problems. Efforts can be directed towards either replacing cells carrying the mutant gene with normal cells or silencing the mutant allele using antisense suppression therapy thus transforming a biochemically severe form of OI into a milder form.