Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.
The loose sand is subject to large settlement when it is exposed to high stresses. This settlement is due to the nature of the high drainage of sand, which displays foundations and constructions to a large danger. The densification of loose sandy soils is required to provide sufficient bearing capacity for the structures. Thus soil stabilization is used to avoid failure in the facilities. Traditional methods of stabilized sandy soil such as fly ash, bituminous, and cement often require an extended curing period. The use of polymers to stabilize sandy soils is more extensive nowadays because it does not require a long curing time in addition to being chemically stable. In this study, the effect of adding different percent
... Show MoreThis study investigates the implementation of Taguchi design in the estimation of minimum corrosion rate of mild-steel in cooling tower that uses saline solution of different concentration. The experiments were set on the basis of Taguchi’s L16 orthogonal array. The runs were carried out under different condition such as inlet concentration of saline solution, temperature, and flowrate. The Signal-to- Noise ratio and ANOVA analysis were used to define the impact of cooling tower working conditions on the corrosion rate. A regression had been modelled and optimized to identify the optimum level for the working parameters that had been founded to be 13%NaCl, 35ᴼC, and 1 l/min. Also a confirmation run to establish the p
... Show MoreBiodiesel is an environmentally friendly fuel and a good substitution for the fossil fuel. However, the purity of this fuel is a major concern that challenges researchers. In this study, a calcium oxide based catalyst has been prepared from local waste eggshells by the calcination method and tested in production biodiesel. The eggshells were powdered and calcined at different temperatures (700, 750, 800, 850 and 900 °C) and periods of time (1, 2, 3, 4 and 5 hr.). The effect of calcination temperature and calcination time on the structure and activity of the solid catalyst were examined by X-ray Diffraction (XRD), Scanning Electron Microscopy (SEM), and Brunaure-Emmett-Teller (BET). The optimum catalyst performance was obtained at 900 °C
... Show MoreNitrogen dioxide NO2 is one of the most dangerous contaminant in the air, its toxic gas that cause disturbing respiratory effects, most of it emitted from industrial sources especially from the stack of power plants and oil refineries. In this study Gaussian equations modelled by Matlab program to state the effect of pollutant NO2 gas on area around Durra refinery, this program also evaluate some elements such as wind and stability and its effect on stacks height. Data used in this study is the amount of fuel oil and fuel gas burn inside refinery at a year 2017. Hourly April month data chosen as a case study because it’s unsteady month. After evaluate emission rate of the all fuel and calculate exit velocity from
... Show Moredue to the presence of chemoresistance and the risk of tumor recurrence and metastasis. There is a pressing necessity to develop efficient treatments to improve response for treatment and increase prolong survival of breast cancer patients. Photodynamic therapy (PDT) has attracted interest for its features as a noninvasive and relatively selective cancer treatment. This method relies on light-activated photosensitizers that, upon absorbing light, generate reactive oxygen species (ROS) with powerful cell-killing outcomes. Nuclear factor kappa B (NF-κB), a transcription factor, plays a key role in cancer development by regulating cell proliferation, differentiation, and survival. Inhibiting NF-κB can sensitize tumor cells to chemotherapeuti
... Show MoreIn the present study, the effectiveness of a procedure of electrocoagulation for removing chemical oxygen demand (COD) from the wastewater of petroleum refinery has been evaluated. Aluminum and stainless steel electrodes were used as a sacrificial anode and cathode respectively. The effect of current density (4-20mAcm−2), pH (3-11), and NaCl concentration (0-4g/l) on efficiency of removal of chemical oxygen demand was investigated. The results have shown that increasing of current density led to increase the efficiency of COD removal while increasing NaCl concentration resulted in decreasing of COD removal efficiency. Effect of pH was found to be lowering COD re
Excessive intake of fluoride, mainly through drinking water is a serious health hazard affecting humans worldwide. In this study, the defluoridation capacities of locally available raw waste beef bones have been estimated. Several experimental parameters including contact time, pH, bone dose, fluoride initial concentration, bone grains size, agitation rate, and the effect of co-existence of anions in actual samples of wastewater were studied for fluoride removal from aqueous solutions. Results indicated excellent fluoride removal effeciency up to 99.7% at fluoride initial concentration of 10 mg F/L and 120 min contact time. Maximum fluoride uptake was obtained at neutral pH range 6-7. Fluoride removal kinetic was well described by the ps
... Show MoreThe paper uses the Direct Synthesis (DS) method for tuning the Proportional Integral Derivative (PID) controller for controlling the DC servo motor. Two algorithms are presented for enhancing the performance of the suggested PID controller. These algorithms are Back-Propagation Neural Network and Particle Swarm Optimization (PSO). The performance and characteristics of DC servo motor are explained. The simulation results that obtained by using Matlab program show that the steady state error is eliminated with shorter adjusted time when using these algorithms with PID controller. A comparative between the two algorithms are described in this paper to show their effectiveness, which is found that the PSO algorithm gives be
... Show MoreInefficient wastewater disposal and wastewater discharge problems in water bodies have led to increasing pollution in water bodies. Pollutants in the river contribute to increasing the biological oxygen demand (BOD), total suspended solids (SS), total dissolved solids (TDS), chemical oxygen demand (COD), and toxic metals render this water unsuitable for consumption and even pose a significant risk to human health. Over the last few years, water conservation has been the subject of growing awareness and concern throughout the world, so this research focused on review studies of researches that studied the importance of water quality of wastewater treated disposal in water bodies and modern technology to management w
... Show MoreWater pollution as a result of contamination with dye-contaminating effluents is a severe issue for water reservoirs, which instigated the study of biodegradation of Reactive Red 195 and Reactive Blue dyes by E. coli and Bacillus sp. The effects of occupation time, solution pH, initial dyes concentrations, biomass loading, and temperature were investigated via batch-system experiments by using the Design of Experiment (DOE) for 2 levels and 5 factors response surface methodology (RSM). The operational conditions used for these factors were optimized using quadratic techniques by reducing the number of experiments. The results revealed that the two types of bacteria had a powerful effect on biodegradable dyes. The regression analysis reveale
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