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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
Tue Jul 08 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Estimation of the Bennett mandibular immediate side shift in Iraqi full mouth rehabilitation patients (An in vivo study)
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Background: Controversy exists concerning the presence and amount of the Bennett mandibular immediate side shift among patients and whether it is necessary to accommodate for it in adjustable articulators. The aim of this study was to register and calculate the amount of any immediate side shift (ISS) present in patients requiring full mouth rehabilitation. Materials and methods: 3- dimensional condylar movements of 50 Iraqi TMD-free patients were recorded using a stereographic fully adjustable articulator system during protrusion, left and right eccentric mandibular movements. Protrusive angles of each patient were verified to figure out the suitable fossa analog for each case. The thickness of each right and left premade fossa analog sele

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Publication Date
Tue Oct 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
THE ROLE OF SOCIAL ENTREPRENEURSHIP IN IMPROVING THE QUALITY OF LIFE OF THE CUSTOMER Field research at the Iraqi Ministry of Labor and Social Affairs
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Abstract:
      This research emerged due to the needs of Iraqi social sector for diagnosing the problems ,finding the appropriate solutions,and exploiting the social opportunities to solve these problems .The research problem focused on raising the following question: "Were Iraqi Managers in the Ministry of Labor and Social Affairs able to use their qualifications as social entrepreneurs in the ministry to improve the quality of life of the disadvantaged groups?", In light of that, the importance and objectives of the study were determined, and this research derives its importance from trying to address social problems by measuring the degree of meeting the subjective and objective needs of the custo

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Publication Date
Thu Jan 01 2015
Journal Name
Iraqi Journal Of Biotechnology
Association among family history and some microbial infectious ( Helicobacter pylori IgG and Hepatitis B and C Virus) as Risk Factors for Atherosclerosis in Iraqi Patients
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Certain bacterial and viral infectious agents may play a role in the activation of inflammation in atherosclerosis lesions. Epidemiological studies indicate that infectious agents may predispose patients to atherosclerosis as Infections have been associated with an increased risk of this disease. Moreover, a positive antibody status has been detected against some infectious organisms associated with atherosclerotic rupture. Infectious agents found in human atheroma, which may directly cause or accelerate atherosclerosis , include many pathogens but the present study focused on Helicobacter pylori, hepatitis B virus surface antigen and C. In order to evaluate the possible association between H. pylori, HBV, and HCV infections and the risk of

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Publication Date
Wed Dec 01 2021
Journal Name
Journal Of Economics And Administrative Sciences
A Proposed Mechanism for Financial Reporting on Sustainable Investment and Its Role in Achieving Value Added - Applied in the Iraqi Midland Refineries Company-
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The research aims to develop a proposed mechanism for financial reporting on sustainable investment that takes the specificity of these investments.

To achieve this goal, the researcher used (what if scenario) where the future financial statements were prepared for the year 2026, after completion of the sustainable project and operation, as the project requires four years to be completed.

The researcher relied on the results of the researchers collected from various modern sources relevant to the research topic and published on the internet, and the financial data and information obtained to assess the reality of the company's activity and its environmental, social, and economic i

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Publication Date
Fri Jun 28 2019
Journal Name
Journal Of The College Of Education For Women
The Effectiveness of an Educational Program For Early Intervention depending on Illustrative Pictures to Acquire some concepts For Children with Hearing impairment
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“Child of today is a man of the future" this slogan is one of the most popular logos of international organizations and institutions that dealing with human beings needs in general and children needs in particular, whether these needs are educational, health, social, or economic. Children require special care and extra legal protection, since the child-raising is not the Child’s own issue, but it's the issue of the society in which he/she would integrate.

As the education and language skillsacquisition primarily associated with hearing, because human being receives most of the skills and knowledge through the hearing; that imitate sounds and learn how to speak isacquired only by hearing, so therefore the hearing - impairedchi

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Publication Date
Thu Jan 01 2015
Journal Name
Iraqi National Journal Of Chemistry
Adsorption of Cefixime on to Iraqi Bentonite
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In this study the adsorption of cefixime on to selected Iraqi clay bentonite. The aim of this study is to search for selective active surface in adsorption of the drug and to act as physical antidotes in treatment of poisoning if the drug is taken in quantities higher than the recommended dosages. Quantitative estimation of the drug adsorption has been done by utilizing the technique of UV spectrophotometry in λmax (273) nm at different conditions of temperature (25, 37, 45) ˚C found the adsorption decrease with increase the temperature. Study of clay weight of bentonite (0.1-1.5) gm found the adsorption increase with increase of clay weight, study effect of pH (1.2, 3, 5, 7) on adsorption of bentonite found the optimum adsorption

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Publication Date
Wed Sep 18 2013
Journal Name
Advanced Materials Research
Artistic Influences Analysis of Iraqi National Costumes
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There were signs of the first civilization known to humanity for more than 6000 years BC in the north of Iraq have disappeared this civilization to appear after 500 years in southern Iraq, the Sumerian civilization, which was considered as the opinion of scientists or civilizations, exceeds the impact to Asia and the countries that had been in contact (Sumerians) and see them today in other towns and villages. In subsequent periods of time appeared distinct personalities to their nature, religious, social, special clothing with clothes seem especially long. And usually dress is made from raw wool material making them in the Sumerian era. Put the garment on the body and leaves the top of the right shoulder with the survival of an ope

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Publication Date
Thu Sep 01 2022
Journal Name
Iop Conference Series: Earth And Environmental Science
Primary Productivity of Iraqi lakes: A Review
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Abstract<p>Lentic ecosystems are important for fish production and are a critical habitat for waterfowl and numerous migratory birds. In this study we have gathered data on primary productivity of lakes across Iraq to provide updated information to strategize conservation and management. Tigris and Euphrates rivers are the primary sources of filling up major lakes in Iraq the overall assessment shows that the primary productivity is dependent on the algal composition and environmental factors with coincident role of macrophytes. An average of 37 to 637 mg carbon/m<sup>3</sup>/day of primary productivity was calculated for most of the lakes comprised of Bacillariophyceae and followed by</p> ... Show More
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Publication Date
Wed Apr 12 2023
Journal Name
Periodical Of Engineering And Natural Sciences
Digital citizenship for faculty of Iraqi universities
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Publication Date
Tue Dec 30 2014
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Electrofacies Characterization of an Iraqi Carbonate Reservoir
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Predicting peterophysical parameters and doing accurate geological modeling which are an active research area in petroleum industry cannot be done accurately unless the reservoir formations are classified into sub-groups. Also, getting core samples from all wells and characterize them by geologists are very expensive way; therefore, we used the Electro-Facies characterization which is a simple and cost-effective approach to classify one of Iraqi heterogeneous carbonate reservoirs using commonly available well logs.

The main goal of this work is to identify the optimum E-Facies units based on principal components analysis (PCA) and model based cluster analysis(MC

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