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EDITORIAL: NEWBORN SCREENING FOR INBORN ERRORS OF METABOLISM (IEM)

Author: Hala S. Arif هالة سامح عارف
Journal: IRAQI JOURNAL OF MEDICAL SCIENCES المجلة العراقية للعلوم الطبية ISSN: P16816579,E22244719 Year: 2009 Volume: 7 Issue: 2 Pages: 1-3
Publisher: Al-Nahrain University جامعة النهرين

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SOME DIAGNOSTIC ASPECTS OF CELIAC DISEASE IN IRAQI CHILDREN
بعض النواحي التشخيصية لمرض داء الزلاق البطني (حساسية الحنطة) لدى الأطفال في العراق

Authors: Sarmad Abdul Elah سرمد عبد الاله --- Raji Al-Hadithi راجي الحديثي --- Hala S. Arif هالة سامح عارف
Journal: IRAQI JOURNAL OF MEDICAL SCIENCES المجلة العراقية للعلوم الطبية ISSN: P16816579,E22244719 Year: 2009 Volume: 7 Issue: 3 Pages: 32-39
Publisher: Al-Nahrain University جامعة النهرين

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Background: There has been an increasing appreciation of the high prevalence of celiac diseas around the world and efforts are continuing to clarify the variable diagnostic problems of the disease.Objective: We tried to throw light over some of these problems in a group of Iraqi children.Methods: Ninety-three patients with features of malabsorption were evaluated for celiac diseas, by assessing serum IgA tTG, both IgG & IgA AGA, serum IgA level and a small intestinal biopsy.Results: Fifty-eight out of ninety-three patients proved to have celiac diseas according to the histopathological picture. Sensitivity of serological tests in general ranged between 50- 77%, but tTG was 100% specific. Patients with more severe histopathological changes showed more serological positivity and higher antibody titers.Eleven cases of Giardiasis were diagnosed (on biopsy specimen) out of the whole sample, giving variable histopathological changes & serological responses.Conclusion: celiac diseas is a prevalent problem in Iraqi children. We share with other countries the diagnostic problems of the disease, but there seems to be some additional aspects, that are peculiar to developing countries, implying the need for diagnostic strategies specific to these areas.Key words: celiac disease, serological tests, histopathology

خلفية الدراسة: هناك ازدياد ملموس لوجود مرض الزلاق البطني في مختلف أنحاء العالم, والبحوث مستمرة لتلافي المشاكل التشخيصية لهذا المرض. هدف الدراسة: دراسة مجوعة من الأطفال ذوي داء الزلاق البطني والمشاكل التشخيصية لهذا المرض.طرق العمل : تم تقصي 93 حالة من الأطفال الذين كانوا يعانون من مرض سوء الامتصاص في الأمعاء, بواسطة التحاليل السيرولوجية وخزعة االأمعاء الدقيقة, لوجود مرض حساسية الحنطة.النتائــج: 58 من 93 من المرضى وجدوا مصابين بمرض حساسية الحنطة حسب الفحص النسيجي لخزعة الأمعاء الدقيقة. تراوحت حساسية الفحوص السيرولوجية لوجود المرض بين 50 – 70 %. المرضى الذين كانوا يعانون من تغيرات نسيجية شديدة أعطوا ايجابية أكثر في الفحوص السيرولوجية مع مستويات أعلى من الأجسام المضادة في هذه الفحوص من سواهم.وجدت أحدى عشر حالة من عينة المرضى الكلية , مصابون بطفيلي الجيارديا, وأعطى العض منهم تغيرات متفاوتة في الفحص النسيجي والفحوص السيرولوجية.الاستنتاجات:هناك وجود ملحوظ لمرض حساسية الحنطة في العراق. نشترك مع الآخرين في المعاناة من وجود بعض المشاكل التشخيصية, بالإضافة لوجود مشاكل أخرى في التشخيص تخص المرضى في الدول النامية, مما يدعو لإيجاد إستراتيجية خاصة للتشخيص في هذه المناطق.مفتاح الكلمات: مرض الزلاق البطني, الفحوص السيرولوجية , الأمراض النسيجية.


Article
10.THE EFFECT OF THE ENZYME REPLACEMENT THERAPY ON THE KIDNEY FUNCTION TESTS AND SERUM ELECTROLYTE LEVELS IN CHILDREN WITH GAUCHER DISEASE

Authors: Hiba A. Abdulhussein هبة عباس عبد الحسين --- Firyal H. Al-Obaidi فريال حسن العبيدي --- Hala S. Arif هالة سامح عارف
Journal: IRAQI JOURNAL OF MEDICAL SCIENCES المجلة العراقية للعلوم الطبية ISSN: P16816579,E22244719 Year: 2018 Volume: 16 Issue: 2 Pages: 182-190
Publisher: Al-Nahrain University جامعة النهرين

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Background: Gaucher disease (GD) is an inherited autosomal recessive disease. It is most common in the Ashkenazi Jewish population. Many biomarkers might be involved in the etiology, pathogenesis, diagnosis and prognosis of GD in children. Most of them are related to complications due to an involvement of many organs such as liver, spleen and bones by this lysosomal storage disease that caused by a lack of the enzyme glucocerebrosidase.Objective: To investigate the role of kidney function test and electrolytes (urea, creatinine, sodium and potassium) level in the monitoring of the response for the treatment used for patients with GD in follow-up manner.Methods: A case control study was done on 67 children (32 males & 35 females), age range from 2-14 years (mean±SD; 5.3±2.9). The levels of sodium, potassium, urea and creatinine were measured in the samples of patients who were categorized as newly diagnosed untreated patients (n=9), patients receiving enzyme replacement therapy (ERT) for 3-6 months (n=18), 6-12 months (n=20) and patients receiving ERT for more than one year (n=20) and compared with twenty age-matched control subjects (9 males & 11 females) age range from 2-14 years (mean±SD; 5.55±3.05).Results: The data indicated that the level of urea in GD patients (23.39±4.71 mg/dl) was significantly higher than that of age-matched controls (17.5±3.05 mg/dl). Non-significant differences were illustrated in the levels of sodium, potassium and creatinine. Negative significant (p<0.05) correlations were obtained between the levels of urea (r= -0.752; p<0.001) and creatinine (r= -0.536; p<0.001) with the period of receiving ERT. Additionally, ANOVA test also revealed significant (p<0.05) differences among the patients' subgroups in the levels of urea and creatinine. Results obtained from Receiver Operating Characteristic (ROC) curve revealed that urea and creatinine showed a high area under the curve (AUC), sensitivity and specificity (0.939, 77.8% and 85% for urea and 0.978, 100% and 80% for creatinine respectively) in newly diagnosed GD patients in a comparison with control.Conclusion: The possibility of using urea and creatinine in the diagnosis and monitoring the effect of ERT on the GD patients.Keywords: Gaucher disease, macrophage, renal function test, urea, creatinine, sodium, potassium, enzyme replacement therapy, imiglucerase, β-glucocerebrosidase, glucocerebrosideCitation: Abdulhussein HA, Al-Obaidi FH, Arif HS. The effect of the enzyme replacement therapy on the kidney function tests and serum electrolyte levels in children with Gaucher disease. Iraqi JMS. 2018; 16(2): 182-190. doi: 10.22578/IJMS.16.2.10


Article
HUMAN CYTOMEGALOVIRUS INFECTION AMONG NEONATES WITH SYMPTOMATIC CONGENITAL INFECTIONS AND BIRTH DEFECTS

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Background:Human cytomegalovirus (HCMV) is the major viral etiology of congenital infection and birth defects, during current maternal infection the fetal transmission is high (30-40%) and the symptomatic neonates have diseases involving the neurologic, hematopoietic, respiratory and other organ systems, causing high mortality and long-term sequelae.Objective:To measure the frequency of congenital and perinatal HCMV infection among symptomatic neonates and its possible burden of disease among them.Methods:A total of one hundred ninety-eight symptomatic neonates with clinical manifestations of overt congenital infection enrolled in this study from September 2014 to March 2015. Serum samples were obtained from each subject targeted in this study. HCMV infection was defined as HCMV-IgM antibody positive by Electrochemiluminescence Immunoassay (ECLIA) techniques. Results:The prevalence of HCMV infection among symptomatic neonates with congenital infection was 25 (12.6%). The average age of HCMV detection was 9.96 (SD 6.73) days with a median of 7 days, a minimum of 3 days and a maximum of 28 days. Jaundice was the most predominant clinical finding 14 (56%), followed in order of frequency by hepatomegaly 9 (36%) and pneumonitis 7 (28%).Conclusion:The high prevalence of neonatal HCMV infection among neonates with symptomatic congenital infections could indicate a high rate of maternal HCMV primary or current infection among our population.Keywords: HCMV, congenital infection, neonates, clinical finding.

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