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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
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Effect glucosamine sulfate drug on liver tissue of male Albino mice
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The current study designed to determine the effect of Glucosamine sulfate on the liver tissue of Albino mice .the study included (40)mice divided in to 4 groups(control group had distilled water orally ).The other groups treated with(1000,2000,3000)ml/k .respectively for 8 week .the liver have been taken from dissected animal for microscopic preparation to study the histological changes .Frequently histopathologicale changes appeared in the liver tissue of the exposure groups during (4-8)week .This changes depends on (Dose and Time ). The effects were Congestion ,Infiltration ,Swelling ,Vaculation ,Hyalinization , Amyloid and Necrosis.

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Publication Date
Sat Apr 06 2024
Journal Name
Indian Journal Of Physics
Investigating the effect of alternating voltage frequency on plasma jet parameters
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Publication Date
Tue Jan 01 2019
Journal Name
Journal Of Advanced Research In Fluid Mechanics And Thermal Sciences
Aerodynamics of a Formula One car front cascade wing during cornering
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Publication Date
Fri Nov 04 2016
Journal Name
International Journal Of Renewable Energy Development
The Temperature Profile for The Innovative Design of the Perforated Fin
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The development of the perforated fin had proposed in many studies to enhance the heat transfer from electronic pieces. This paper presents a novel derivative method to find the temperature distribution of the new design (inclined perforated) of the pin fin. Perforated with rectangular section and different angles of inclination was considered. Signum Function is used for modeling the variable heat transfer area. Set of parameters to handle the conduction and convection area were calculated. Degenerate Hypergeometric Equation (DHE) was used for modeling the Complex energy differential equation and then solved by Kummer’s series. In the validation process, Ansys 16.0-Steady State Thermal was used. Two geometric models were consider

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Publication Date
Sun Mar 31 2019
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Behavior of Plain Concrete Beam Analyzed Using Extended Finite Element Method
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In this study, plain concrete simply supported beams subjected to two points loading were analyzed for the flexure. The numerical model of the beam was constructed in the meso-scale representation of concrete as a two phasic material (aggregate, and mortar). The fracture process of the concrete beams under loading was investigated in the laboratory as well as by the numerical models. The Extended Finite Element Method (XFEM) was employed for the treatment of the discontinuities that appeared during the fracture process in concrete. Finite element method with the feature standard/explicitlywas utilized for the numerical analysis. Aggregate particles were assumedof elliptic shape. Other properties such as grading and sizes of the aggr

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Publication Date
Thu Dec 01 2022
Journal Name
International Journal Of Electrical And Computer Engineering (ijece)
Smart internet of things kindergarten garbage observation system using Arduino uno
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<span lang="EN-US">Increase the in population and kindergarten number, especially in urban areas made it difficult to properly manage waste. Thus, this paper proposed a system dedicated to kindergartens to manage to dispose of waste, the system can be called smart garbage based on internet of things (SGI). To ensure a healthy environment and an intelligent waste in the kindergarten management system in an integrated manner and supported by the internet of things (IoT), we presented it in detail identification, the SGI system includes details like a display system, an automatic lid system, and a communication system. This system supplied capabilities to monitor the status of waste continuously and on IoT website can show the pe

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Publication Date
Fri Dec 15 2023
Journal Name
Al-academy
Aesthetics Contents of Data Visualization as an Input to its humanization
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The aesthetic contents of data visualization is one of the contemporary areas through which data scientists and designers have been able to link data to humans, and even after reaching successful attempts to model data visualization, it wasn't clear how that reveals how it contributed to choosing the aesthetic content as an input to humanize these models, so the goal of the current research is to use The analytical descriptive approach aims to identify the aesthetic contents in data visualization, which the researchers interpreted through pragmatic philosophy and Kantian philosophy, and analyze a sample of data visualization models to reveal the aesthetic entrances in them to explain how to humanize them. The two researchers reached seve

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Publication Date
Sun Jun 09 2024
Journal Name
2024 Ieee 52nd Photovoltaic Specialist Conference (pvsc)
Exploring the Capacitance-Voltage Response of Metal Halide Perovskite Solar Cells
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Publication Date
Fri Nov 01 2019
Journal Name
International Journal Of Engineering
Structural Behavior of Axially Loaded Composite Concrete-steel Plate Shear Walls
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Publication Date
Sat Aug 01 2015
Journal Name
2015 Ieee Conference On Computational Intelligence In Bioinformatics And Computational Biology (cibcb)
Granular computing approach for the design of medical data classification systems
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