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.
This study focuses on studying the effect of reinforced steel in detail, and steel reinforcement (tensile ratio, compression ratio, size, and joint angle shape) on the strength of reinforced concrete (compressive strength) Fc' and searching for the most accurate details of concrete divisions, their behavior, and corner resistance of reinforced concrete joint. The comparison of this paper with previous studies, especially in the studied properties. The conclusions of the chapter are summarized that these effects had a clear effect and a specific effect on the behavior and resistance of the reinforced concrete corner joints under the negative moments and under their influence and the resulting stress conditions. The types of defects that can
... Show MoreThe current research aims to adopt production quality decisions as the most important decisions , because they are accompanied by customer satisfaction through monitoring the quality of drinking water in iraq which reach through the pipeline network associated with water treatment projects of Tigris and Euphrates rivers. One of the indicators of quality control was the drawing of the C-chart by specifying the central line and the upper and lower limit of the control and the diagnosis of whether the production system as a whole within the scope of quality control or not and determine the strength and significance of the correlation between the quantities of water And actual needs for customers , the research has reached a number o
... Show MoreTransmission lines are generally subjected to faults, so it is advantageous to determine these faults as quickly as possible. This study uses an Artificial Neural Network technique to locate a fault as soon as it happens on the Doukan-Erbil of 132kv double Transmission lines network. CYME 7.1-Programming/Simulink utilized simulation to model the suggested network. A multilayer perceptron feed-forward artificial neural network with a back propagation learning algorithm is used for the intelligence locator's training, testing, assessment, and validation. Voltages and currents were applied as inputs during the neural network's training. The pre-fault and post-fault values determined the scaled values. The neural network's p
... Show MoreThe UN plans to achieve several development objectives by 2030. These objectives address global warming, a major issue. This method aims to improve sustainable accounting performance (AP). In this circumstance, AI is being applied in various fields, notably in economic, social, and environmental (ESE) domains. This research investigates how sustainable development (SD) influences AI methodologies and AP improvement. The research examined a sample of Iraqi banks listed on the Iraq Stock Exchange from 2014 to 2022. AI was measured by ATM and POS prevalence. A three-dimensional approach examined economic, social, and environmental (ESE) sustainability. Meanwhile, the performance of sustainable accounting was measured through the return on asse
... Show MoreVarious simple and complicated models have been utilized to simulate the stress-strain behavior of the soil. These models are used in Finite Element Modeling (FEM) for geotechnical engineering applications and analysis of dynamic soil-structure interaction problems. These models either can't adequately describe some features, such as the strain-softening of dense sand, or they require several parameters that are difficult to gather by conventional laboratory testing. Furthermore, soils are not completely linearly elastic and perfectly plastic for the whole range of loads. Soil behavior is quite difficult to comprehend and exhibits a variety of behaviors under various circumstances. As a result, a more realistic constitutive model is
... Show MoreVarious simple and complicated models have been utilized to simulate the stress-strain behavior of the soil. These models are used in Finite Element Modeling (FEM) for geotechnical engineering applications and analysis of dynamic soil-structure interaction problems. These models either can't adequately describe some features, such as the strain-softening of dense sand, or they require several parameters that are difficult to gather by conventional laboratory testing. Furthermore, soils are not completely linearly elastic and perfectly plastic for the whole range of loads. Soil behavior is quite difficult to comprehend and exhibits a variety of behaviors under various circumstances. As a result, a more realistic constitutive model is
... Show MoreThis study aimed to incorporate hydroxyapatite nanoparticles (nHA) or amorphous calcium phosphate nanoparticles (nACP) into a self-etch primer (SEP) to develop a simplified orthodontic bonding system with remineralizing and enamel preserving properties.
nHA and nACP were incorporated into a commercial SEP (Transbond™ plus) in 7% weight ratio and compared with the plain SEP as a control. Shear bond strengths (SBS), enamel damage, and adhesive remnant index (ARI) scores were evaluated at 24 h