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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Fri Jun 28 2024
Journal Name
Arab World English Journal
The Relationship between Willingness to Communicate in English and Psychological Adjustment of Iraqi EFL Learners
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The current research aims to examine the willingness to communicate and psychological adjustment of Iraqi EFL undergraduate students. To achieve the main aim, a sample of 100 male and female Iraqis’ undergraduate students studying English as a foreign language was chosen randomly from two different public colleges in Baghdad city for the academic year 2023-2024. Two scales have five Likert alternatives of 17 and 16 items developed by McCroskey & Richmond (1990) and Wais (2010), respectively were administered to the research sample to collect the needed data. The results revealed that Iraqi EFL undergraduate students have a willingness to communicate in the English language. Iraqi EFL undergraduate students have a good level of

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Publication Date
Sun Jul 30 2023
Journal Name
Al-rafidain Journal Of Medical Sciences
Correlation of Kidney Injury Molecule-1 and Nephrin Levels in Iraqi Patients with Diabetic Nephropathy
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Diabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa

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Publication Date
Sun Mar 02 2008
Journal Name
Baghdad Science Journal
A study of analysis and comparison to the low nutrient density foods that more normality for children age (3 –5 years)
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Through the early childhood and after the ablactating the child learns acquired food habbits that might studying with him throughout his life. Here the parents role arises: teaching the child the sound food habits and hygienic styles and whatever beneficial to the health and with the sufficient quantities for the body. In this way the experiences the child learns at home will be of great help in his future life in choosing the suitable food after becoming more dependent in making his decisions and choices away from his parents. The results in this study showed that the averages of the children’s consumption of the high energy foods in comparison with the other highest consumption average , after that comes the con sumption of soft drills

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Publication Date
Tue Feb 01 2022
Journal Name
Biochemical & Cellular Archives,
BACTERIAL CONTAMINATION OF IRAQI BANKNOTES CURRENCY IN CIRCULATION IN BAGHDAD CITY
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The present study was identified the type of bacterial contamination of Iraqi banknotes currency (Iraqi dinars) in circulation. 68 Iraqi banknotes currency of different denominations samples were randomly gathered from different locations and different occupational groups in Baghdad city. The results showed 61 (89.70%) of the samples were determined to be contaminated with bacteria, whereas 7 (10.29%) were confirmed to be sterile. A total of 11 different species of bacteria resulting in 72 isolates were found from those 61 contaminated Iraqi banknotes currency. Based on culture, morphological and biochemical tests, 11 isolates were identified as Bacillus sp., Staphylococcus aureus, Staphylococcus epidermidis, Corynebacterium diphtheria, Leu

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of The College Of Education For Women
Point of View in Women Curriculum Vitae in Modern Iraqi Literature
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Throughout what mentioned above, It is obvious that the aware narrator in these biography models was the strongest tool in presenting the content, especially the biographies under study were written by feminine hands, striving to prove her identity by all means and ways. In addition, we can suppose that the hiding of she writer behind the character is no more than a mask, by which she want to mask herself so that she can express herself frankly and freely, especially when she talks about subjects that are inconsistent with the society, customs and traditions. It is important to refer that the existence of the participant narrator in the biographies under study does not prevent the presence of another narrator such as external or aware na

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Publication Date
Tue Jan 01 2019
Journal Name
Research Journal Of Pharmacy And Technology
Reading of Immune picture in Chronic Myeloid Leukemia in Iraqi Patients
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Chronic myeloid leukemia (CML) is a myeloproliferative disorders characterized by formation of Philadelphia chromosome. After disease development, several events may associate with the reduction of anti-tumor immunity. The present study was designed to investigate the immunological profile of innate and adaptive immune response in Iraqi patients with CML. Patients were grouped into untreated (UT), treated (T) with chemotherapy, while another apparently healthy individuals were recruited to represent the control (C) group. Methods: ELISA technique was used to estimate serum levels of GM-CSF, IL-1a, IL-8, IL2, INF-?, IL-4, and IL-10 while SRID was used to estimate serum levels of C4, IgM, IgA, and IgG. Results: Regarding to innate immune resp

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Publication Date
Sat Jul 01 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Diagnostic and Predictive Values of IL-6 in a Group of Iraqi Patients with Rheumatoid Arthritis
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الخلفية: التهاب المفاصل الرَثَيَانِي أو الداء الرثياني أو الالتهاب المفصلي الروماتويدي هو مرض مزمن، من الأمراض الانضدادية التي تؤدي بالجهاز المناعي لمهاجمة المفاصل، مسببة التهابات وتدميرًا لها. ومن الممكن أيضًا أن يدمر جهاز المناعة أعضاء أخرى في الجسم مثل الرئتين والجلد. وفي بعض الحالات، يسبب المرض الإعاقة، مؤدية إلى فقدان القدرة على الحركة والإنتاجية. ويتم تشخيص المرض بواسطة تحاليل دم مخبرية مثل تحلي

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Publication Date
Thu Apr 01 2021
Journal Name
Biochemical And Cellular Archives
STUDY OF LYSYL OXIDASE-1 AND KIDNEY FUNCTION IN SERA OF IRAQI PATIENTS WITH DIABETIC NEPHROPATHY
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This study aimed to compare lysyl oxidase-1 level in diabetic patients with and without renal dysfunction, that LOX-1 may be an indicator for the early stage of diabetic nephropathy (DN). In addition to finding it is a relationship with kidney functions in Iraqi diabetic patients with and without renal dysfunction. Blood was obtained from 25 healthy individuals as a control group (G1), 25 diabetic patients with renal dysfunction, and 25 diabetic patients without renal dysfunction. Age range 40-60 years for all subjects. BMI (25-27) Kg/m2 . The serum was used for the analysis of LOX-1, FBG, urea, creatinine and uric acid. Whole blood is used for the determination of HbA1C. Results of FBG and HbA1C revealed a significant increase in G2 and G

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Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Estimation of Testosterone, Estradiol and some Markers in Sera of Iraqi Patients with Benign Prostatic Hyperplasia.
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Benign prostatic hyperplasia (BPH) is one of the most common disease and major cause of morbidity in elderly men which may lead to bladder outflow obstruction and lower urinary tract symptoms (LUTS). Although sex steroid hormones play fundamental roles in prostate growth, their clinical significance is not completely clear. In the present study we assessed whether serum hormones levels as markers of prostate disease. This study includes (40) patients with benign prostatic hypertrophy and (40) control group with age rang (41-79) and (42-71) years respectively. The following biochemical investigations have been studied: Testosterone, Estradiol (E2), and Prostatic Specific Antigen (PSA) levels using ELISA method which correlated with t

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Publication Date
Mon Jun 01 2009
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Accounting Measurement of Environmental Effects and isclosure it: Applicatiory research in one of Iraqi manufacturing state
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This research aims to Presented model can be applicable – in the frame of current accounting implementations - to measure environmental effects and disclosure then in the financial statements of economic entities after determined the environmental performance scopes of environmental activities that is works by this entities , because of importance of accounting information which presentation by accounting systems which's effectiveness tool on hand of decision maker about site plans and goals and drawing policies aims protection environment sustainable the represented of naturalism wealth elements . The researcher could be able to application his suggested model which's proof the ability to environmental accounting measurement and discl

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