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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
Sun Oct 31 2021
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
Achieving urban sustainability by revitalizing the performance of Islamic geometric pattern on residential façades
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Cultural awareness is becoming increasingly important in an effort to reinvigorate local urban heritage into modern production. Considering that, one of the most significant aspects of sustainability is preserving socio-cultural and environmental specificities and restoring local heritage. The aim is influencing the local identity by promoting sustainability through the revival of Islamic geometric patterns (IGP) and their performance as effective components in local urban facades. A set of indicators related to the purposes for reusing IGP in facades within three main performances (decorative, structural, and functional). Their sustainability was studied and extrapolated, and a checklist has developed and tested by Likert scale on

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Publication Date
Wed Apr 05 2023
Journal Name
Journal Of Engineering
A Developed Model for Selecting Optimum Locations of Water Harvesting Dams Using GIS Techniques
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An integrated GIS-VBA (Geographical Information System – Visual Basic for Application), model is developed for selecting an optimum water harvesting dam location among an available locations in a watershed. The proposed model allows quick and precise estimation of an adopted weighted objective function for each selected location. In addition to that for each location, a different dam height is used as a nominee for optimum selection. The VBA model includes an optimization model with a weighted objective function that includes beneficiary items (positive) , such as the available storage , the dam height allowed by the site as an indicator for the potential of hydroelectric power generation , the rainfall rate as a source of water . In a

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Publication Date
Fri Mar 01 2019
Journal Name
Al-khwarizmi Engineering Journal
Thermo Elasto-Plastic Analysis of Rotating Axisymmetrical Bodies Using Modified Von-Mises Yield Criterion
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In the present work, the behavior of thick-walled cylinder of elasto-plastic material (polymeric material) has been studied analytically. The study is based on modified Von-Mises yield criterion (for non metallic material). The equations of stress distribution are obtained for the cylinder under general cases of elastic expansion, plastic initiation and elastic-plastic expansion.

        A computer program is developed for evaluating the stress distribution. The solution is carried out for worst boundary conditions when the cylinder is subjected to the combination of pressure load, inertia load, and temperature gradient.

        The results are presente

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Publication Date
Mon Sep 25 2017
Journal Name
Bn Al-haitham Jour. For Pure & Appl. Sci.
Synthesis of Some New Heterocyclic Fused Rings Compounds Based on 5-Aryl-1,3,4-Oxadiazole
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The work includes synthesis and characterization of some new heterocyclic compounds, as flow: The compound (3) (5-(4-chlorophenyl) -2-hydrazinyl-1,3,4-oxadiazole was synthesized by using two methods; the first method includes the direct reaction between hydrazine hydrate 80% and 5-(4-chlorophenyl)-2- (ethylthio) 1,3,4-oxadiazole (1), the second method involves converting 5-(4-chlorophenyl)-1,3,4-oxadiazol-2-amine (2) to diazonium salt then reducing this salt to compound (3) by stannous chloride. Compound (3) was used as starting material for synthesizing several fused heterocyclic compounds. The compound 6-(4-chlorophenyl)[1,2.4] triazolo [3,4,b][1,3,4] oxadiazole-3-(2H) thione (compound 4) was synthesized from the reaction of compound (3)

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Publication Date
Tue Jan 01 2019
Journal Name
Opcion
Enhancing Islamic Concepts through English Children's Lit-erature: Al- Ibtila, The Test of Patience
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Publication Date
Sun Jan 01 2023
Journal Name
8th Engineering And 2nd International Conference For College Of Engineering – University Of Baghdad: Coec8-2021 Proceedings
Serviceability performance of high-strength concrete flexural members with internally unbonded post-tensioning strands
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Publication Date
Mon Dec 20 2021
Journal Name
Baghdad Science Journal
Effective Solution of University Course Timetabling using Particle Swarm Optimizer based Hyper Heuristic approach
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The university course timetable problem (UCTP) is typically a combinatorial optimization problem. Manually achieving a useful timetable requires many days of effort, and the results are still unsatisfactory. unsatisfactory. Various states of art methods (heuristic, meta-heuristic) are used to satisfactorily solve UCTP. However, these approaches typically represent the instance-specific solutions. The hyper-heuristic framework adequately addresses this complex problem. This research proposed Particle Swarm Optimizer-based Hyper Heuristic (HH PSO) to solve UCTP efficiently. PSO is used as a higher-level method that selects low-level heuristics (LLH) sequence which further generates an optimal solution. The proposed a

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Publication Date
Mon Dec 01 2025
Journal Name
Materials Today Communications
Green electrospinning synthesis of NiO/Ni nanofiber for efficient soap removal from crude biodiesel
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Publication Date
Sun Jan 01 2023
Journal Name
Rawal Medical Journal
Efficacy of lumbar interlaminar epidural steroid injections for lumbar spinal stenosis: A prospective study
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Objective: To study the effect of epidural spinal injection over one year in case of spinal stenosis. Methodology: This prospective study included 566 patients with spinal stenosis seen at Al-Kindy Teaching and Al-Sader, Hospitals who were treated by local epidural steroid injection. They were followed up for at least five subsequent visits after seven days, one month, three months, six months, and one year to assess efficacy. Result: Mean age of patients was 49.5 years, with a predominance of females (65%). L4/L5 was the most involved level in the spinal stenosis (70%). Grade II stenosis accounted for (45.4%) of cases. The pairwise comparison revealed that there was significant decrease in proportions of patients with pain in day

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Publication Date
Mon Feb 02 2015
Journal Name
Journal Of Engineering, University Of Baghdad
'Impact Analysis of Reinforced Concrete Columns with Side Openings Subjected to Eccentric Axial Loads
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