Demographic and clinical features of glutaric acidemia type 1 ; a high frequency among isolates in Upper Egypt
المؤلفون المشاركون
Ghurabah, Dina A.
Zaki, Usamah K.
al-Abd, Hibah Salah
Raghib, Shayma Jad
al-Ghawaby, Ahmad Isam
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 15، العدد 2 (30 إبريل/نيسان 2014)، ص ص. 187-192، 6ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2014-04-30
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Objective : Glutaric acidemia type 1 (GA1) was thought to be a rare disorder in Arab countries.
Recently, a relatively large number of patients with GA1 have been detected in Egypt.
The aim of this work was to : (1) find out the commonest clinical characteristics of the disease among Egyptians presenting with GA1 ; (2) delineate the demographic factors that may lead to a high prevalence of GA1 among Egyptians ; (3) Recommend the most suitable strategy to screen for the disease.
Patients and methods : The study included all patients with GA1 who presented at The Genetics Unit, Ain Shams University Hospital (GUASH) during the last three years.
The information about patients with GA1 including the epidemiological and clinical data was obtained retrospectively from patients’ files.
Results : The authors surveyed data of 26 patients in 23 families who were personally examined and the diagnosis was confirmed by laboratory data.
The mean age of onset of symptoms was 5.8 ± 2.2 months : the mean delay in establishing the diagnosis was 11.73 ± 13.97 months.
At the onset of symptoms, macrocephaly (85 %) was the commonest feature of GAI followed by dystonia (69 %), and persistent convulsions (50 %).
Onset of symptoms occurred during an acute febrile illness in 68 % of patients, which was associated with the worst forms of dystonia (X2 = 12.5, p = 0.14).
The frequency of affected Christian families among all affected families was 43 %, which.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zaki, Usamah K.& al-Abd, Hibah Salah& Raghib, Shayma Jad& Ghurabah, Dina A.& al-Ghawaby, Ahmad Isam. 2014. Demographic and clinical features of glutaric acidemia type 1 ; a high frequency among isolates in Upper Egypt. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 2, pp.187-192.
https://search.emarefa.net/detail/BIM-374409
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Abd, Hibah Salah…[et al.]. Demographic and clinical features of glutaric acidemia type 1 ; a high frequency among isolates in Upper Egypt. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 2 (Apr. 2014), pp.187-192.
https://search.emarefa.net/detail/BIM-374409
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zaki, Usamah K.& al-Abd, Hibah Salah& Raghib, Shayma Jad& Ghurabah, Dina A.& al-Ghawaby, Ahmad Isam. Demographic and clinical features of glutaric acidemia type 1 ; a high frequency among isolates in Upper Egypt. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 2, pp.187-192.
https://search.emarefa.net/detail/BIM-374409
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 192
رقم السجل
BIM-374409
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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