Diagnosis and clinical features of organic acidemias : a hospital-based study in a single center in Damascus, Syria
المؤلفون المشاركون
Shannar, Halah Khalil
al-Asmar, Diyana
Qaddurah, Ahmad
Al al-Fahum, Sahar
المصدر
العدد
المجلد 24، العدد 1 (30 يونيو/حزيران 2015)، ص ص. 1-6، 6ص.
الناشر
تاريخ النشر
2015-06-30
دولة النشر
قطر
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues.
These are rare disorders and infrequently reported worldwide.
In Syria, there is a lack of information regarding these disorders.
Objective: Our hospital-based study aimed to describe the pattern of clinical and demographic presenting features of organic acidemias among Syrian children and to shed light on the diagnostic experience of organic acidemias in the Children’s Hospital of Damascus through a five year period.
Material and methods: We conducted a retrospective cohort study by reviewing the medical records of OA patients in the Children’s Hospital of Damascus between 2008 and 2012.
All cases were investigated by metabolic work up, including the acylcarnitine profile performed by tandem mass spectrometry (MS/MS) and quantitative urine organic acid analysis performed by gas chromatography mass spectrometry (GC-MS).
Results: A total of 70 OA confirmed cases were included in the study.
There were 46 males and 31 females.
Twenty-seven cases were diagnosed after the first year of life.
Methylmalonic acidemia was the most frequent disorder (57.1%).
There were relatively high rates of family history of unexplained death and OA confirmed cases (50%), consanguinity (74.2%) and mortality (21.4%).
The most frequent symptoms were apnea or respiratory distress (65.7%) and vomiting (40%).
Conclusion: The lack of specific confirmatory diagnostic tests being performed and the high mortality and consanguinity rates among OA patients suggests
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Shannar, Halah Khalil& al-Asmar, Diyana& Qaddurah, Ahmad& Al al-Fahum, Sahar. 2015. Diagnosis and clinical features of organic acidemias : a hospital-based study in a single center in Damascus, Syria. Qatar Medical Journal،Vol. 24, no. 1, pp.1-6.
https://search.emarefa.net/detail/BIM-591859
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Shannar, Halah Khalil…[et al.]. Diagnosis and clinical features of organic acidemias : a hospital-based study in a single center in Damascus, Syria. Qatar Medical Journal Vol. 24, no. 1 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-591859
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Shannar, Halah Khalil& al-Asmar, Diyana& Qaddurah, Ahmad& Al al-Fahum, Sahar. Diagnosis and clinical features of organic acidemias : a hospital-based study in a single center in Damascus, Syria. Qatar Medical Journal. 2015. Vol. 24, no. 1, pp.1-6.
https://search.emarefa.net/detail/BIM-591859
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 5-6
رقم السجل
BIM-591859
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