مسح استقصائي لاضطرابات استقلاب الحموض العضویة عند الولدان بواسطة المقياس الطيفي الكتلوي الترادفي

الموضوعات

علوم بحتة وطبيعية

روابط وملفات

التعريف والنوع

رقم الوثيقة

04c9739e-0496-4b68-9fff-d56cd7fc8c7b

رقم العقد

0

نوع الوسائط

Crawler

نوع المحتوى

الرسائل العلمية

صيغة المصدر

رسائل ماجيستير

نوع الملف

pdf text

أسماء الملفات

1964384_1.pdf, 1964384_2.pdf

بيانات النشر

ترجمة العنوان

Newborn Exploratory Survey for Organic Acids Metabolism Disorders By Tandem Mass Spectrometry

ألقاب المؤلفين

[{"name_ar":"سحر الفاھوم ","title_ar":"اشراف","title_en":"Supervision"},{"name_ar":"عبير قدسي","title_ar":"اشراف","title_en":"Supervision"},{"name_ar":"ھالة شنار","title_ar":"اعداد","title_en":"Preparation"}]

اللغة

Arabic

المصدر والدورية

اسم المصدر

مسح استقصائي لاضطرابات استقلاب الحموض العضویة عند الولدان بواسطة المقياس الطيفي الكتلوي الترادفي

المحتوى والصفحات

عدد الصفحات

0

ترجمة الملخص

Background: Organic acid disorders or organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in the body fluids and tissues. The majority of these disorders have autosomal recessive inheritance pattern. Most of these diseases present as sudden and severe clinical manifestation during the neonatal period that, often times ,lead to mild to severe irreversible mental retardation, lifelong disability delayed development and may lead to death. The diagnosis requires identification of abnormal pattern of organic acids in biological fluids .The patient prognosis can be much better with early diagnosis and treatment. Individually; these inborn errors of metabolism are rare and infrequently reported worldwide. In Syria, there are no published epidemiologic reports regarding these disorders .Object: to evaluate the approximate prevalence, spectrum and other characteristics of organic acidemias among Syrian newborns and high-risk infants and children by tandem mass spectrometry, and to discuss the difficulties and problems which would be encountered when establishing a national screening program in Syria. Material and methods: Our Cross-sectional study was divided in to three subgroups:•Retrospective study :We conducted a retrospective cohort study by reviewing 134 medical records of suspected OA patients in Damascus children's university hospital between 2008 and 2012. Only confirmed cases with OA were registered and analyzed epidemiologically.76 •Oriented study: We investigated organic acid disorders among 208patients, whom were suspected to have intermediary metabolism disorders in the children's university hospital in Damascus during one year period. Dried blood samples were collected and acylecarnitne profile was conducted by tandem mass spectrometry (MS/MS).•Prospective study: 1160 newborns were screened for organic acidemieas by metabolic work up, including the determination of the acylcarnitine profile in dried blood samples, performed by tandem mass spectrometer (MS/MS) and quantitative urine organic acid analysis, performed by gas chromatography- mass spectrometry (GC-MS).The dried blood samples were collected in maternity university hospital in Damascus during 6 months period. Results: During five year- period, 77 patients have confirmed diagnosis with organic acid disorders. Out of 208 high-risk patients, 16 patients were diagnosed with organic acidemias. Out of 1160 screened newborns, 3 newborns were diagnosed with the same organic disorder, which was Propionic acidemia .Conclusion: The lack of performing the specific confirmatory diagnostic tests due to financial reasons, the high morbidity and mortality of organic acidemias and the high consanguinity rates among Syrian population, suggest high incidence of OA in Syria. Our study presents the necessity of establishment a pilot newborn screening program in Syria in order to decrease morbidity and mortality and to improve patient's life quality

إشراف وإعداد

الإشراف

سحر الفاھوم , عبير قدسي

الإعداد

ھالة شنار

الاقتباسات الببليوغرافية