![](/images/graphics-bg.png)
Profile of Egyptian patients with mucopolysaccharidosis
المؤلفون المشاركون
Shawqi, Rabah M.
Fateen, Ekram M.
Rifat, M. M.
Baha al-Din, Nirmin M.
Zaki, Iman A.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 9، العدد 1 (31 مايو/أيار 2008)، ص ص. 11-21، 11ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2008-05-31
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الموضوعات
الملخص EN
Background : Mucopolysaccharidoses (MPS) are chronic progressive liposomal disorders (Six distinct types) which are inherited as autosomal recessive except MPS II which is inherited as X-linked recessive disorder.
Patients and Methods : this study is designed to investigate a group of Egyptian patients with MPS biochemically using screening test by electrophoretic separation of glycosaminoglycan's and enzymatic assay in order to establish the diagnosis of the disorder and its subtypes, to prepare patients for enzyme replacement therapy.
Also this will help in proper genetic counseling and prenatal diagnosis.
Establishing a reliable rapid screening test for MPS is another aim of the study.
The present study included 20 index cases suspected clinically as mucopolysaccardioses at the Medical Genetics Center, Ain Shams University (ASUMGC).They were subjected to full history taking, thorough clinical examination, family pedigree construction, skeletal survey, abdominal ultrasound and echocardiography, quatitative assay of glycosaminoglycan's (GAGs) by diemethylmethlene blue (DMB) is done.
Results : the level of urinary GAGs by two dimentional electrophoresis (DMB) test was high in all patients tested.
After that the patients were subjected to 2-DEP to determine the pattern of GAGs for probable type of MPS.
11 cases (55 %) showed big dermatan sulfate spot (Type I, II or VI).
Seven cases (35 %) showed hepran sulfate spot (Type III), 2 cases (10 %) showed keratan sulfate spot (Type IV).
Finally patients were subjected to enzyme analysis specific for each type of MPS to confirm diagnosis.
Reaching a specific diagnosis is of importance for genetic counseling and prenatal diagnosis which is possible for all types of MPS.
Conclusion : prenatal diagnosis was done by 2-DEP of the amniotic fluid for four mothers of affected patients of MPS.
One fetus was proved to be affected with MPS III.
Another fetus was affected with MPSII.
The others fetuses were normal.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Shawqi, Rabah M.& Rifat, M. M.& Zaki, Iman A.& Fateen, Ekram M.& Baha al-Din, Nirmin M.. 2008. Profile of Egyptian patients with mucopolysaccharidosis. The Egyptian Journal of Medical Human Genetics،Vol. 9, no. 1, pp.11-21.
https://search.emarefa.net/detail/BIM-105044
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Shawqi, Rabah M.…[et al.]. Profile of Egyptian patients with mucopolysaccharidosis. The Egyptian Journal of Medical Human Genetics Vol. 9, no. 1 (May. 2008), pp.11-21.
https://search.emarefa.net/detail/BIM-105044
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Shawqi, Rabah M.& Rifat, M. M.& Zaki, Iman A.& Fateen, Ekram M.& Baha al-Din, Nirmin M.. Profile of Egyptian patients with mucopolysaccharidosis. The Egyptian Journal of Medical Human Genetics. 2008. Vol. 9, no. 1, pp.11-21.
https://search.emarefa.net/detail/BIM-105044
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 20-21
رقم السجل
BIM-105044
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر
![](/images/kashef-image.png)