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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 Jun 01 2023
Journal Name
Journal Of Engineering
Performance of STBC Based MIMO-OFDM Using Pilot-aided Channel Estimation
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Many studies have been published to address the growing issues in wireless communication systems. Space-Time Block Coding (STBC) is an effective and practical MIMO-OFDM application that can address such issues. It is a powerful tool for increasing wireless performance by coding data symbols and transmitting diversity using several antennas. The most significant challenge is to recover the transmitted signal through a time-varying multipath fading channel and obtain a precise channel estimation to recover the transmitted information symbols. This work considers different pilot patterns for channel estimation and equalization in MIMO-OFDM systems. The pilot patterns fall under two general types: comb and block types, with

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Publication Date
Sun Mar 01 2020
Journal Name
Iop Conference Series: Materials Science And Engineering
The Behavior of Scouring Around Multiple Bridge Piers Having Different Shapes
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Abstract<p>In this research, a numerical simulation was conducted to study the behavior of the scouring pattern and the effect of spacing between bridge piers at specified hydraulic conditions such as velocity, depth of flow, and the sediment effective diameter. Moreover, the cross-section shape of piers and their effect on the scouring depth around bridge piers was studied, using Computational Fluid Dynamics (CFD), ANSYS (Fluent) software. A comparison of the simulation results obtained with previous laboratory investigations was done to verify the validity of the numerical model. Generally, the scour pattern using the CFD software gave good agreement with the experimental study. A reversed pro</p> ... Show More
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Publication Date
Fri Jul 01 2022
Journal Name
Journal Of Engineering
A Review of the Asphalt Mixtures Containing Recycled Solid Waste Materials
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Landfill and incineration are the most common and widely used methods to dispose of solid wastes; both of these techniques are considered the main sources of pollution in the world due to the harmful toxic emissions that are considered an environmental problem. Because of the large areas used by landfills, they are not always considered an economical method. With the increase in the production of solid materials, solid wastes increase the pressure on incinerators and landfills, making the environmental pollution hazard more serious. Instead, these waste materials can be used in some other applications. One of the most important of these applications is asphalt pavements, which are the most used types of pavements in the

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Publication Date
Wed Mar 01 2023
Journal Name
Al-khwarizmi Engineering Journal
Mechanical PropertiesInvestigation of Unidirectional Woven Carbon Fiber Reinforced Epoxy Matrix Composite
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In this study, the mechanical properties of an epoxy and unidirectional woven carbon with fiberglass composite were experimentally investigated. When preparing the composite samples, American Society for Testing and Materials (ASTM)standard was used. Tensile, impact and flexural test were conducted to investigate the mechanical properties of the new produced epoxy Unidirectional Woven Carbon and Epoxy Fiberglass composites. The outcome showed that the strength of the produced samples increased with the increase in the number of unidirectional woven carbon layers added. Two methods were utilized: (1) woven carbon composite with glass fiber (2) woven carbon composite). The two methods of composite were compared with each other.  The resul

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Publication Date
Fri May 01 2020
Journal Name
Iop Conference Series: Materials Science And Engineering
A review of ultra-high temperature materials for thermal protection system
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Abstract<p>Ultra-High Temperature Materials (UHTMs) are at the base of entire aerospace industry; these high stable materials at temperatures exceeding 1600 °C are used to manage the heat shielding to protect vehicles and probes during the hypersonic flight through reentry trajectory against aerodynamic heating and reducing plasma surface interaction. Those materials are also recognized as Thermal Protection System Materials (TPSMs). The structural materials used during the high-temperature oxidizing environment are mainly limited to SiC, oxide ceramics, and composites. In addition to that, silicon-based ceramic has a maximum-use at 1700 °C approximately; as it is an active oxidation process o</p> ... Show More
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Publication Date
Sat Sep 30 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Accurate Petrophysical Interpretation of Carbonate using the Elemental Capture Spectroscopy (ECS)
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Elemental capture spectroscopy (ECS) is an important tool in the petroleum industry for determining the composition and properties of rock formations in a reservoir. Knowledge of the types and abundance of different minerals in the reservoir is crucial for accurate petrophysical interpretation, reservoir engineering practices, and stratigraphic correlation. ECS measures the elemental content of the rock, which directly impacts several physical properties that are essential for reservoir characterization, such as porosity, fluid saturation, permeability, and matrix density. The ability to accurately determine these properties leads to better reservoir mapping, improved production, and more effective resource management. Accurately determi

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Publication Date
Thu Oct 01 2015
Journal Name
Journal Of Engineering
Numerical Simulation of Natural Convection Heat Transfer from Interrupted Rectangular Fins
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      Numerical simulations have been investigated to study the external free convective heat transfer from a vertically rectangular interrupted fin arrays. The continuity, Naver-Stockes and energy equations have been solved for steady-state, incompressible, two dimensional, laminar with Boussiuesq approximation by Fluent 15 software. The performance of interrupted fins was evaluated to gain the optimum ratio of interrupted length to fin length (

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Publication Date
Sun Apr 08 2018
Journal Name
Al-khwarizmi Engineering Journal
Design of Hybrid Neural Fuzzy Controller for Human Robotic Leg System
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 In this paper, the human robotic leg which can be represented mathematically by single input-single output (SISO) nonlinear differential model with one degree of freedom, is analyzed and then a simple hybrid neural fuzzy controller is designed to improve the performance of this human robotic leg model. This controller consists from SISO fuzzy proportional derivative (FPD) controller with nine rules summing with single node neural integral derivative (NID) controller with nonlinear function. The Matlab simulation results for nonlinear robotic leg model with the suggested controller showed that the efficiency of this controller when compared with the results of the leg model that is controlled by PI+2D, PD+NID, and F

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Publication Date
Mon Jan 01 2024
Journal Name
Journal Of Engineering
Improvement Marshall Properties of Hot Mix Asphalt Concrete Using Polyphosphoric Acid
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Modified asphalt is considered one of the alternatives to address the problems of deficiencies in traditional asphalt concrete, as modified asphalt addresses many of the issues that appear on the pavement layers in asphalt concrete, resulting from heavy traffic and vehicles loaded with loads that exceed the design loads and the large fluctuations in the daily and seasonal temperatures of asphalt concrete. The current study examined the role of polyphosphoric acid (PPA) as a modified material for virgin asphalt when it was added in different proportions (1%, 2%, 3%, 4%) of the asphalt weight. The experimental program includes the volumetric characteristics associated with the Marshall test, the physical properties, and th

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Publication Date
Thu Feb 01 2024
Journal Name
Journal Of Engineering
Improving the Bearing Capacity of Clay Soil Using Plastic Bottle Waste
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With the increase in industry and industrial products, quantities of waste have increased worldwide, especially plastic waste, as plastic pollution is considered one of the wastes of the modern era that threatens the environment and living organisms. On this basis, a solution must be found to use this waste and recycle it safely so that it does not threaten the environment. Therefore, this research used plastic waste as an improvement material for clay soil. In this research, two types of tests were conducted, the first of which was a laboratory test, where the undrained shear strength (cohesion), compression index (Cc), and swelling index (Cr) of the improved and unimproved soils were calculated (plastic was added in pr

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