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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 Oct 25 2018
Journal Name
Al-nahrain Journal Of Science
Synthesis of some New 3-Substituted Heterocyclic Compounds Containing Bridgehead Nitrogen from 2-Amino Pyridine with Study Their Biological Activity
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Publication Date
Mon Feb 13 2023
Journal Name
Journal Of Educational And Psychological Researches
A Proposed Strategy to Develop Postgraduate Studies at King Khalid University to Support the Achievement of the Kingdom's 2030 Vision
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Abstract

The aim of this research is to formulate a proposed strategy for developing graduate studies at King Khalid University to support the achievement of the Kingdom's vision (2030). The research used the descriptive survey approach. The research community consisted of all graduate students at King Khalid University. The research was conducted on a random sample included (623) Male and female students, this research relied on the questionnaire as the main tool for collecting its data. The results revealed that the research sample believes that all the proposals included in this research are very important for the development of postgraduate studies at King Khalid University to support the achievement of the K

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Publication Date
Sat May 30 2026
Journal Name
Modern Sport
Determining standard levels to test the strength endurance characteristic of speed for basketball players for juniors aged under (16) years
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Publication Date
Sun Nov 01 2020
Journal Name
Journal Of Physics: Conference Series
Laser Irradiation Effect on The Optical Properties of CoO<sub>2</sub>Thin Films deposited via Semi-Computerized Spraying System
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Abstract<p>In this paper deals with the effect laser irradiation on the optical properties of cobalt oxide (CoO<sub>2</sub>) thin films and that was prepared using semi computerized spray pyrolysis technique. The films deposited on glass substrate using such as an ideal value concentration of (0.02)M with a total volume of 100 ml. With substrate temperature was (350 C), spray rate (15 ml/min).The XRD diffraction given polycrystalline nature with Crystal system trigonal (hexagonal axes). The obtained films were irradiated by continuous green laser (532.8 nm) with power 140 mW for different time periods is 10 min,20min and 30min. The result was that the optical properties of cobalt oxide thin films affe</p> ... Show More
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Publication Date
Sun Dec 15 2019
Journal Name
Al-academy
The Effect of The Illustration Program on Fashion Design Inspired by Historical Costumes: تهاني ناصر العجاجي -هدى عبد العزيز المقرن
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This research aims to identify the role and impact of illustrations in contemporary fashion design inspired by historical costumes. Historical fashion aesthetics are adapted to design drawings. The experimental method was followed and a sample of 31 students in the department of fashion and textile design, third level were selected. Each student carried out two original historical and contemporary design. The models were executed two times: one with the usage of the program and the other without program help. The tools that were used are the program, the scale, the pre-skill test, and the post-skill test. One of the most relevant results of the research is the possibility of using historical costumes to highlight creativity and innovatio

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Publication Date
Mon Jan 01 2024
Journal Name
Pakistan Journal Of Life And Social Sciences (pjlss)
Effect of Aromatherapy on Pain Intensity for Patients Undergoing Arterial Sheath Removal after Percutaneous Coronary Intervention: A Randomized Controlled Trial
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Publication Date
Sat May 30 2026
Journal Name
Journal Of Baghdad College Of Dentistry
An Evaluation of Gutta-Percha Penetration Depth into Simulated Lateral Canals by Using Three Different Obturation Techniques (A Comparative Study)
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Background:sThe aims of this study were to evaluate and compare the ability of three different techniques to obdurate simulated lateral canals, evaluate the effect of the main canal curvature on obturation of lateral canals and compare the gutta-percha penetration between coronal and apical lateral canals. Materials and methods: Resin blocks with 30 straight and 30 curved were used in this study. Each canal has two parallel lateral canals. The main canal has 0.3 mm apical diameter and 0.04 taper. The canals were divided into six groups according to canal curvature and obturation techniques used (n=10): Groups C1 and C2: straight and curved canals obturated with continuous wave technique using E&Q masterTM system. Groups O1 and O2: straight

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Publication Date
Wed Dec 29 2021
Journal Name
Journal Of The College Of Education For Women
The Skills of Intended Meaning behind the Context when Reading Poetry among Fifth Grade Students- Literary Branch from Teachers’ Perspectives
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        The current research aims to investigate the skills of the intended meaning beyond the context when reading poetry among fifth literary students. To achieve the aim of the research, the researcher has followed the descriptive approach and used two tools: an open questionnaire that includes an inquiry about the skills of the intended meaning beyond the poetic context, and a closed questionnaire that were examined by the juries, and modified accordingly. Besides, its validity and stability were examined by applying the study on an exploratory sample of (15) teachers to reach its final version and determine the time required to answer it. Then, the researcher applied it on the research sample of (9

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Numerical Solutions for the Nonlinear PDEs of Fractional Order by Using a New Double Integral Transform with Variational Iteration Method
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This paper considers a new Double Integral transform called Double Sumudu-Elzaki transform DSET. The combining of the DSET with a semi-analytical method, namely the variational iteration method DSETVIM, to arrive numerical solution of nonlinear PDEs of Fractional Order derivatives. The proposed dual method property decreases the number of calculations required, so combining these two methods leads to calculating the solution's speed. The suggested technique is tested on four problems. The results demonstrated that solving these types of equations using the DSETVIM was more advantageous and efficient

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Publication Date
Mon Oct 01 2018
Journal Name
International Journal Of Biosciences
Detection of Escherichia coli O157 H7 isolated from infected dogs with urinary tract infections using real time - polymerase chain reaction
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