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.
The objective of this work is to investigate the performance of a conventional three phase induction motor supplied by unbalanced voltages. An effort to study the motor steady state performance under this disturbance is introduced. Using per phase equivalent circuit analysis with the concept of symmetrical components approach, the steady state performance is theoretically calculated. Also, a model for the induction motor with the MATLAB/Simulink SPS tools has been implemented and steady state results were obtained. Both results are compared and show good correlation as well. The simulation model is introduced to support and enhance electrical engineers with a complete understanding for the steady state performance of a fully loaded induc
... Show MoreThis study was undertaken to diagnose routine settling problems within a third-party oil and gas companies’ Mono-Ethylene Glycol (MEG) regeneration system. Two primary issues were identified including; a) low particle size (<40 μm) resulting in poor settlement within high viscosity MEG solution and b) exposure to hydrocarbon condensate causing modification of particle surface properties through oil-wetting of the particle surface. Analysis of oil-wetted quartz and iron carbonate (FeCO₃) settlement behavior found a greater tendency to remain suspended in the solution and be removed in the rich MEG effluent stream or to strongly float and accumulate at the liquid-vapor interface in comparison to naturally water-wetted particles. As su
... Show MoreEco-friendly concrete is produced using the waste of many industries. It reduces the fears concerning energy utilization, raw materials, and mass-produced cost of common concrete. Several stress-strain models documented in the literature can be utilized to estimate the ultimate strength of concrete components reinforced with fibers. Unfortunately, there is a lack of data on how non-metallic fibers, such as polypropylene (PP), affect the properties of concrete, especially eco-friendly concrete. This study presents a novel approach to modeling the stress-strain behavior of eco-friendly polypropylene fiber-reinforced concrete (PFRC) using meta-heuristic particle swarm optimization (PSO) employing 26 PFRC various mixtures. The cement was partia
... Show MoreHard-grade asphalt binders, such as AC 20–30, offer excellent resistance to permanent deformation but are inherently brittle, making them highly susceptible to fatigue and low-temperature cracking. While polymer modification addresses these issues, virgin polymers remain expensive. Despite the growing interest in recycled plastics, the rheological impact of complex waste streams, specifically polyvinyl chloride (PVC) derived from flex banners containing plasticizers, on excessively stiff binders within the complete Superpave Performance Grading (PG) framework remains critically underexplored. This study introduces a novel valorization approach by utilizing solvent-extracted flex banner waste (WPVC) as a dual-action modifier. It leverages
... Show MoreIn this paper, the researcher suggested using the Genetic algorithm method to estimate the parameters of the Wiener degradation process, where it is based on the Wiener process in order to estimate the reliability of high-efficiency products, due to the difficulty of estimating the reliability of them using traditional techniques that depend only on the failure times of products. Monte Carlo simulation has been applied for the purpose of proving the efficiency of the proposed method in estimating parameters; it was compared with the method of the maximum likelihood estimation. The results were that the Genetic algorithm method is the best based on the AMSE comparison criterion, then the reliab
... Show MoreIn current article an easy and selective method is proposed for spectrophotometric estimation of metoclopramide (MCP) in pharmaceutical preparations using cloud point extraction (CPE) procedure. The method involved reaction between MCP with 1-Naphthol in alkali conditions using Triton X-114 to form a stable dark purple dye. The Beer’s law limit in the range 0.34-9 μg mL-1 of MCP with r =0.9959 (n=3) after optimization. The relative standard deviation (RSD) and percentage recoveries were 0.89 %, and (96.99–104.11%) respectively. As well, using surfactant cloud point extraction as a method to extract MCP was reinforced the extinction coefficient(ε) to 1.7333×105L/mol.cm in surfactant-rich phase. The small volume of organi
... Show MoreNearly a century and a half has passed since Sarah Orne Jewett published her much anthologized short story “A White Heron” (1886), but commentators on the tale missed one of the most important points in the text. It is the story’s similarity to the traditional Euro-centric fairy tale of “Little Red Riding Hood”. As an author, writing at the end of the ninetieth century, a time that witnessed the demise of the Romantic movement in America and the beginning of the age of Realism, Jewett did not romanticize her characters, despite the idyllic landscape in which “A White Heron” is set. Her story can be analyzed as a text that aims at disseminating ecological awareness among her young readers. This study focuses on Jewett
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