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.
Gas adsorption phenomenon on solid surface has been used as a mean in separation and purification of gas mixture depending on the difference in tendencies of each component in the gas mixture to be adsorbed on the solid surface according to its behaviour. This work concerns to study the possibilities to separate the gas mixture using adsorption-desorption phenomenon on activated carbon. The experimental results exhibit good separation factor at temperature of -40 .
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The main aim of this research has been associated with the study of relationship between competitive intelligence and strategic risk, and to deduct their specific trends, which are interpreted as predicted by research hypotheses according to a review of literature including prior studies. The basic theme of these hypotheses is related to the probability that declining levels of strategic risk and competitive positions of industrial companies is dependent upon the growing capacity to stay ahead of competitors in the market.
A purposive non-random
... Show MoreThe research aims to achieve market share requirements and reach the targeted competitive price through the application of management accounting techniques represented by continuous improvement technique and target costing under an Activity Based Cost (ABC) system and Activity Based Management (ABM), In Muthanna Cement Company to reach the rationalization of the cost of the product and maintain the required quality and improve the profitability of the company.
The problem of research has emerged in the inability of local firms to enter into effective competition with other companies operating in the same economic sector, Because of the high cost of its products, Which led to the sale of the product at prices below its cost, and t
... Show MoreTax state institution regards as one of the largest state institutions implementing the tax rules issuing be legislative body and achieving the goals of tax (financial, economic, social and political). So, the tax management should pay attention to the procedures enabling it to achieve those rules starting from the procedures of tax restrict and ending by tax allocation where the process of assessment the taxation must relaxing on modern methods. The problem of the study raising from that in spite of there is a low obliging the taxable person (registered or not) to submit a declaration about his income and the achieved profit to be the base of taxation˒ where the other ways are secondary ways helping in rejection of t
... Show MoreThis paper presents the implementation of a complex fractional order proportional integral derivative (CPID) and a real fractional order PID (RPID) controllers. The analysis and design of both controllers were carried out in a previous work done by the author, where the design specifications were classified into easy (case 1) and hard (case 2) design specifications. The main contribution of this paper is combining CRONE approximation and linear phase CRONE approximation to implement the CPID controller. The designed controllers-RPID and CPID-are implemented to control flowing water with low pressure circuit, which is a first order plus dead time system. Simulation results demonstrate that while the implemented RPID controller fails to stabi
... Show MorePots experiment was conducted at the greenhouse of botanical garden belong to Department of Biology, College of Education for Pure Science, Ibn-AL-Haithum, University of Baghdad, for growth season 2018-2019. The aim of the experiment was to study the effects of foliar application of a-tocopherol concentrations (0, 50, 100, 150, 200 mg.L-1) on growth parameters and the activity of some antioxidant enzymes of wheat plant irrigated with sodium chloride concentrations (0, 75, 150, 225) mM.L-1. Salinity reduced plant growth parameter, plant height, flag leaf area, flag leaf chlorophyll content and increased the activity of antioxidant enzymes, superoxide dismutase and peroxidase. Plant growth parameters were enhanced by foliar application of a-t
... Show MoreIn this paper, a miniaturized 2 × 2 electro-optic plasmonic Mach– Zehnder switch (MZS) based on metal–polymer–silicon hybrid waveguide is presented. Adiabatic tapers are designed to couple the light between the plasmonic phase shifter, implemented in each of the MZS arms, and the 3-dB input/output directional couplers. For 6 µm-long hybrid plasmonic waveguide supported by JRD1 polymer (r33= 390 pm/V), a π-phase shift voltage of 2 V is obtained. The switch is designed for 1550 nm operation wavelength using COMSOL software and characterizes by 2.3 dB insertion loss, 9.9 fJ/bit power consumption, and 640 GHz operation bandwidth
In the geotechnical and terramechanical engineering applications, precise understandings are yet to be established on the off-road structures interacting with complex soil profiles. Several theoretical and experimental approaches have been used to measure the ultimate bearing capacity of the layered soil, but with a significant level of differences depending on the failure mechanisms assumed. Furthermore, local displacement fields in layered soils are not yet studied well. Here, the bearing capacity of a dense sand layer overlying loose sand beneath a rigid beam is studied under the plain-strain condition. The study employs using digital particle image velocimetry (DPIV) and finite element method (FEM) simulations. In the FEM, an experiment
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