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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
Thu Mar 31 2022
Journal Name
Iraqi Geological Journal
Geological Model of the Khabour Reservoir for Studying the Gas Condensate Blockage Effect on Gas Production, Akkas Gas Field, Western Iraq
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The Khabour reservoir, Ordovician, Lower Paleozoic, Akkas gas field which is considered one of the main sandstone reservoirs in the west of Iraq. Researchers face difficulties in recognizing sandstone reservoirs since they are virtually always tight and heterogeneous. This paper is associated with the geological modeling of a gas-bearing reservoir that containing condensate appears while production when bottom hole pressure declines below the dew point. By defining the lithology and evaluating the petrophysical parameters of this complicated reservoir, a geological model for the reservoir is being built by using CMG BUILDER software (GEM tool) to create a static model. The petrophysical properties of a reservoir were computed using

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Publication Date
Thu Sep 25 2025
Journal Name
Journal Of Baghdad College Of Dentistry
An Extrafollicular Cystic Adenomatoid Odontogenic Tumor of the Mandible Associated with Clear Cell Calcifying Epithelial Odontogenic Tumor: A Rare Case Report
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Background: The adenomatoid odontogenic tumor is a relatively rare benign epithelial odontogenic tumor. It contains both epithelial and mesenchymal components. Few cases presented as an extrafollicular lesion or involve the mandible or associated with other odontogenic lesions. This paper represents a rare case of an extrafollicular AOT. Case presentation: A 24-year-old female had a painless swelling on the right side of the lower jaw since one-month duration. Intraorally there was a well defined fluctuant-blue swelling in the right alveolar premolar region measuring 1×2 cm obliterating the right lower buccal vestibule. Grade II mobility in the vital 44 and 45 teeth were observed. Panoramic radiographs showed a well-defined pear shaped

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Publication Date
Sun Feb 25 2024
Journal Name
Baghdad Science Journal
Prioritized Text Detergent: Comparing Two Judgment Scales of Analytic Hierarchy Process on Prioritizing Pre-Processing Techniques on Social Media Sentiment Analysis
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Most companies use social media data for business. Sentiment analysis automatically gathers analyses and summarizes this type of data. Managing unstructured social media data is difficult. Noisy data is a challenge to sentiment analysis. Since over 50% of the sentiment analysis process is data pre-processing, processing big social media data is challenging too. If pre-processing is carried out correctly, data accuracy may improve. Also, sentiment analysis workflow is highly dependent. Because no pre-processing technique works well in all situations or with all data sources, choosing the most important ones is crucial. Prioritization is an excellent technique for choosing the most important ones. As one of many Multi-Criteria Decision Mak

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Publication Date
Mon Mar 07 2022
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Teaching According to the Augmented Reality Technique on theVisual Thinking Skills to Scientific Fifth-Grade Students for Biology
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The research aims to identify the effect of teaching according to the augmented reality on the technique of the visual thinking skills among scientific fifth-grade students in a biology course. In order to achieve the goal of the research, the researcher adopted the experimental approach with the partial set of the two equal groups with the dimensional test of visual thinking skills, The research population represented all the scientific students of the fifth grade for morning government schools affiliated to the General Directorate of Education of Baghdad / Karkh II, alshakerin preparatory for boys was chosen intentionally, in which two groups were chosen for this study, one group is chosen randomly as the control group via lottery, whe

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Publication Date
Wed Dec 29 2021
Journal Name
Al-khwarizmi Engineering Journal
Comparison of Prediction Programs for Short Wave Circuit Link from Iraq to Test points on Both Earth Hemispheres during Solar Minimum
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This paper compare  the accurecy of HF propagation  prediction programs for  HF circuits links between Iraq and  different points world wide  during August 2018 when  solar cycle 24 (start 2009 end 2020) is at minimun activity and also find out the best communication mode  used. The prediction   programs like Voice of America Coverage Analysis Program (VOACAP) and ITU Recommendation RS 533 (REC533 )  had been used to generat HF circuit link  parameters like Maximum Usable Frequency ( MUF) and Frequency of Transsmision (FOT) .Depending  on the predicted parameters (data)  , real radio contacts had been done using a radio transceiver from Icom  model IC 7100 with 100W RF

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Publication Date
Mon Jan 01 2018
Journal Name
International Journal Of Science And Research (ijsr)
Height-to-Length Ratio Effect on the Response of Unreinforced Masonry Wall Subjected to Vertical Load Using Detailed-Micro Modeling Approach
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This paper aimed to investigate the effect of the height-to-length ratio of unreinforced masonry (URM) walls when loaded by a vertical load. The finite element (FE) method was implemented for modeling and analysis of URM wall. In this paper, ABAQUS, FE software with implicit solver was used to model and analysis URM walls subjected to a vertical load. In order to ensure the validity of Detailed Micro Model (DMM) in predicting the behavior of URM walls under vertical load, the results of the proposed model are compared with experimental results. Load-displacement relationship of the proposed numerical model is found of a good agreement with that of the published experimental results. Evidence shows that load-displacement curve obtained fro

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Publication Date
Fri Mar 17 2017
Journal Name
Elixir Mech. Engg. 109 (2017) 47879-47881, Www. Elixirpublishers. Com …‏
Effect of Cutting Angle for a Locally Assembling Motorized Vibration Cutter on Some Operational Characteristics Used for Date Palm Fronds Cutting
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Publication Date
Sun Nov 01 2020
Journal Name
Journal Of Materials Research And Technology
Immobilization of l-asparaginase on gold nanoparticles for novel drug delivery approach as anti-cancer agent against human breast carcinoma cells
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Publication Date
Mon May 01 2023
Journal Name
Chemical Engineering Research And Design
Treatment of petroleum refinery wastewater by electrofenton process using a low cost porous graphite air-diffusion cathode with a novel design
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Publication Date
Mon Aug 05 2024
Journal Name
Food And Bioprocess Technology
Development of an Innovative Reinforced Food Packaging Film Based on Corn Starch/Hydroxypropyl Methylcellulose/Nanocrystalline Cellulose Incorporated with Nanogel Containing Quercetin
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