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.
As one type of heating furnaces, the electric heating furnace (EHF) typically suffers from time delay, non-linearity, time-varying parameters, system uncertainties, and harsh en-vironment of the furnace, which significantly deteriorate the temperature control process of the EHF system. In order to achieve accurate and robust temperature tracking performance, an integration of robust state feedback control (RSFC) and a novel sliding mode-based disturbance observer (SMDO) is proposed in this paper, where modeling errors and external disturbances are lumped as a lumped disturbance. To describe the characteristics of the EHF, by using convection laws, an integrated dynamic model is established and identified as an uncertain nonlinear second ord
... Show MoreThe Gas Assisted Gravity Drainage (GAGD) process has become one of the most important processes to enhance oil recovery in both secondary and tertiary recovery stages and through immiscible and miscible modes. Its advantages came from the ability to provide gravity-stable oil displacement for improving oil recovery, when compared with conventional gas injection methods such as Continuous Gas Injection (CGI) and Water – Alternative Gas (WAG). Vertical injectors for CO2 gas were placed at the top of the reservoir to form a gas cap which drives the oil towards the horizontal oil producing wells which are located above the oil-water-contact. The GAGD process was developed and tested in vertical wells to increase oil r
... Show MoreTin dioxide (SnO2) were mixed with (TiO2 and CuO) with concentration ratio (50, 60, 70, 80 and 90) wt% films deposited on single crystal Si and glass substrates at (523 K) by spray pyrolysis technique from aqueous solutions containing tin (II) dichloride Dihydrate (SnCl2, 2H2O), dehydrate copper chloride (CuCl2.2H2O) and Titanium(III) chloride (TiCl3) with molarities (0.2 M). The results of electrical properties and analysis of gas sensing properties of films are presented in this report. Hall measurement showed that films were n-type converted to p- type as titanium and copper oxide added at (50) % ratio. The D.C conductivity measurements referred that there are two mechanisms responsible about the conductivity, hence it possess two act
... Show MoreThe introduction of concrete damage plasticity material models has significantly improved the accuracy with which the concrete structural elements can be predicted in terms of their structural response. Research into this method's accuracy in analyzing complex concrete forms has been limited. A damage model combined with a plasticity model, based on continuum damage mechanics, is recommended for effectively predicting and simulating concrete behaviour. The damage parameters, such as compressive and tensile damages, can be defined to simulate concrete behavior in a damaged-plasticity model accurately. This research aims to propose an analytical model for assessing concrete compressive damage based on stiffness deterioration. The prop
... Show MoreIn regression testing, Test case prioritization (TCP) is a technique to arrange all the available test cases. TCP techniques can improve fault detection performance which is measured by the average percentage of fault detection (APFD). History-based TCP is one of the TCP techniques that consider the history of past data to prioritize test cases. The issue of equal priority allocation to test cases is a common problem for most TCP techniques. However, this problem has not been explored in history-based TCP techniques. To solve this problem in regression testing, most of the researchers resort to random sorting of test cases. This study aims to investigate equal priority in history-based TCP techniques. The first objective is to implement
... Show MoreThe optimum design is characterized by structural concrete components that can sustain loads well beyond the yielding stage. This is often accomplished by a fulfilled ductility index, which is greatly influenced by the arrangement of the shear reinforcement. The current study investigates the impact of the shear reinforcement arrangement on the structural response of the deep beams using a variety of parameters, including the type of shear reinforcement, the number of lacing bars, and the lacing arrangement pattern. It was found that lacing reinforcement, as opposed to vertical stirrups, enhanced the overall structural response of deep beams, as evidenced by test results showing increases in ultimate loads, yielding, and cracking of
... Show MoreRemoval of heavy metal ions such as, cadmium ion (Cd 2+) and lead ion (Pb 2+) from aqueous solution onto Eichhornia (water hyacinth) activated carbon (EAC) by physiochemical activation with potassium hydroxide (KOH) and carbon dioxide (CO2) as the activating agents were investigated. The Eichhornia activated carbon was characterized by Brunauer Emmett Teller (BET), Fourier Transform Infrared spectroscopy (FTIR), and Scanning Electron Microscopy (SEM) techniques. Whereas, the effect of adsorbent dosage, contact time of pH, and metal ion concentration on the adsorption process have been investigated using the batch process t
The Cu(II) was found using a quick and uncomplicated procedure that involved reacting it with a freshly synthesized ligand to create an orange complex that had an absorbance peak of 481.5 nm in an acidic solution. The best conditions for the formation of the complex were studied from the concentration of the ligand, medium, the eff ect of the addition sequence, the eff ect of temperature, and the time of complex formation. The results obtained are scatter plot extending from 0.1–9 ppm and a linear range from 0.1–7 ppm. Relative standard deviation (RSD%) for n = 8 is less than 0.5, recovery % (R%) within acceptable values, correlation coeffi cient (r) equal 0.9986, coeffi cient of determination (r2) equal to 0.9973, and percentage capita
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