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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Thu Jan 31 2019
Journal Name
Engineering Journa
Flexural Moment Capacity Evaluation of Reinforced RPC Two-way Slabs
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The aim of this paper is to determine the flexural moment capacity of Reactive Powder Concrete (RPC) two-way slabs based on three models proposed by previous studies (Model 1, Model 2, and Model 3). The results obtained from these models were compared with those obtained from experimental work to check the accuracy and the applicability of the adopted theoretical models. The experimental program included the testing of three simply supported RPC two-way slabs (1000x1000x70) mm each. The tested specimens had identical properties except their steel fibres volume ratios (0.5 %, 1 %, and 1.5 %). The comparison with the experimental data showed that (Model 3) is the most suitable one among the three models. Model 1 was found to underestimate the

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Publication Date
Mon Feb 18 2019
Journal Name
Iraqi Journal Of Physics
Elastic transverse electron scattering form factors of 11Li exotic nucleus
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        The elastic transverse electron scattering form factors have been studied for the 11Li   nucleus using the Two- Frequency Shell Model (TFSM) approach. The single-particle wave functions of harmonic-oscillator (HO) potential are used with two different oscillator parameters bcore and bhalo. According to this model, the core nucleons of 9Li nucleus are assumed to move in the model space of spsdpf. The outer halo (2-neutron) in 11Li is assumed to move in the pure 1p1/2, 1d5/2, 2s1/2 orbit. The shell model calculations are carried ou

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Publication Date
Wed Nov 01 2017
Journal Name
Journal Of Engineering
Design of L1 -Adaptive Controller for Single Axis Positioning Table
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L1 adaptive controller has proven to provide fast adaptation with guaranteed transients in a large variety of systems. It is commonly used for controlling systems with uncertain time-varying unknown parameters. The effectiveness of  L1 adaptive controller for position control of single axis has been examined and compared with Model Reference Adaptive Controller (MRAC). The Linear servo motor is one of the main constituting elements of the x-y table which is mostly used in automation application. It is characterized by time-varying friction and disturbance.

    The tracking and steady state performances of both controllers have been assessed fo

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Publication Date
Mon Jul 01 2013
Journal Name
Journal Of Engineering
Behavior of Reinforced Gypseous Soil Embankment Model under Cyclic Loading
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The construction of embankment for roadway interchange system at urban area is restricted due to the large geometry requirements, since the value of land required for such construction is high, and the area available is limited as compared to rural area. One of the optimum solutions to such problem is the earth reinforcement technique which requires a limited area for embankment construction. Gypseous soil from Al-Anbar governorate area was obtained and subjected to various physical and chemical analysis to determine it is properties. A laboratory model box of 50x50x25 cm was used as a representative embankment; soil has been compacted in five layers at maximum dry density (modified compaction) and an aluminum reinforcement strips we

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Publication Date
Mon Mar 30 2009
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Extraction of atropine from Datura Innoxia using liquid membrane Technique
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Selective recovery of atropine from Datura innoxia seeds was studied. Applying pertraction in a rotating film contactor (RFC) the alkaloid was successfully recovered from native aqueous extracts obtained from the plant seeds. Decane as a liquid membrane and sulfuric acid as a stripping agent were used. Pertraction from native liquid extracts provided also a good atropine refinement, since the most of co-extracted from the plant species remained in the feed or membrane solution. Solid–liquid extraction of atropine from Datura innoxia seeds was coupled with RF-pertraction in order to purify simultaneously the extract obtained from the plant. Applying the integrated process, proposed in this study, a product containing 92.6% atropine was

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Publication Date
Wed Jan 15 2020
Journal Name
Iraqi Journal Of Laser
Hole Drilling of High Density Polyethylene using Nd:YAG Pulsed Laser
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This paper presents the theoretical and experimental results of drilling high density
polyethylene sheet with thickness of 1 mm using millisecond Nd:YAG pulsed laser. Effects of laser
parameters including laser energy, pulse duration and peak power were investigated. To describe and
understand the mechanism of the drilling process Comsol multiphysics package version 4.3b was used to
simulate the process. Both of the computational and experimental results indicated that the drilling
process has been carried out successfully and there are two phases introduced in the drilling process,
vaporization and melting. Each portion of these phases depend on the laser parameters used in the
drilling process

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Publication Date
Thu Mar 30 2006
Journal Name
College Of Islamic Sciences
The jurisprudence of Imam Yahya bin Moin through his history
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Jurisprudential rulings were not once restricted to anyone. Even if some prominent imams were famous in one science, this does not mean that some of them were not very knowledgeable and well versed in another science, but he did not know much about it, given his fame in the first science in which he emerged. It prevailed over him until he became known only through him, and there are a large number of these people, and among them is our imam, the great critic Yahya bin Ma’in, may God be pleased with him. Many people, and even scholars, know about him except that he is the only imam in jarh and ta’deel, and on his words and the words of his strike are relied upon. In terms of the authenticity and weakness of the hadith, he is in this f

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Publication Date
Wed Jan 01 2020
Journal Name
Technologies And Materials For Renewable Energy, Environment And Sustainability: Tmrees20
Capitalized effect of gamma radiation on blood thinning drug (Aspirin)
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Publication Date
Tue Dec 05 2023
Journal Name
Baghdad Science Journal
Processing of Polymers Stress Relaxation Curves Using Machine Learning Methods
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Currently, one of the topical areas of application of machine learning methods is the prediction of material characteristics. The aim of this work is to develop machine learning models for determining the rheological properties of polymers from experimental stress relaxation curves. The paper presents an overview of the main directions of metaheuristic approaches (local search, evolutionary algorithms) to solving combinatorial optimization problems. Metaheuristic algorithms for solving some important combinatorial optimization problems are described, with special emphasis on the construction of decision trees. A comparative analysis of algorithms for solving the regression problem in CatBoost Regressor has been carried out. The object of

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Publication Date
Mon Oct 01 2018
Journal Name
Iraqi Journal Of Physics
Nano MgO catalyst for chemical depolymerization of polyethylene terephthalate (PET)
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This paper focuses firstly on the production of monomers bis (2-hydroxyethyl) terephthalate (BHET) and oligomers by using two different form of MgO light active and Nano Magnesium oxide with different weight ratio (0.15, 0.25 and 0.5) by using chemical recycling glass condenser at 190 ˚C. The second purpose is to study the effect of catalyst ratio, time of reaction and yield of products of the product. Elemental analysis for Carbon –Hydrogen and Nitrogen (CHN), differential scanning calorimetry (DSC), infrared spectroscopy (FTIR) and thermogravimetric analysis (TGA) have been investigated. Results indicated the catalytic activity was found to correlate with surface area; however, LA MgO has shown an exceptional activity, still it is h

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