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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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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.

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Some Variables Affecting the Formulation of Pentoxifylline (PTX) as a Solid Sustained Release Dosage Form
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An inert matrix  that is used to control the release of  (PTX) was prepared using Eudragit RL100 and RSPM types as matrix forming agent . The matrices were prepared by either dry granulation(slugging) , or wet granulation method using chloroform as a solvent evaporation vehichle. The cumulative release was adjusted by using polyvinylpyrollidone (PVP) or ethylcellulose (EC) polymers .The results indicated that   both methods of preparation were valid for incorporation PTX as a sustained release granules .Moreover ,the results revealed that best polymer used  was Eudragit RSPM in 3:20 polymer drug ratio .Besides to that ,   the results indicated that the release profiles were affected by  pH- medium&

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Publication Date
Sun Mar 01 2015
Journal Name
Sust Journal Of Engineering And Computer Science (jecs)
Virtual failure influence of Roseires dam on Khartoum city using HEC-RAS Hydraulic simulation modeling
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Dam break is series phenomenon that can result in fatal consequences and loss of properties. Unfortunately, the observed consequences can only be available after the dam breaks. Therefore, it is important to anticipate what will happen prior to dam break to issue suitable warning and locate the possible risk areas. This study attempts to simulate the case of dam break in Blue Nile at Roseires dam and see its consequences downstream. Roseires dam lies at a distance of 630 km south of Khartoum, Sennar dam lies at about 260 km downstream of Roseires dam. In this study hydraulic model is developed based of Hydraulic Engineering Centre (HEC), River Analysis System (RAS), and HEC- RAS. The HEC-RAS based model is calibrated and validated usi

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Publication Date
Thu Mar 01 2007
Journal Name
Al-khwarizmi Engineering Journal
An investigation into the performance of counter rotating floating ring journal under different working conditions
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The steady state performance of the counter rotating floating ring Journal bearing is analyzed with isothermal finite bearing theory. The effect of different parameters affecting the performance of the bearing (namely speed ratio, clearance ratio and radii ratio), have been investigated. The load carrying capacity of the bearing increasing with decreasing the radii ratio (R2/R1) of the ring and clearance ratio (c1/c2), in the other hand, the coefficient of friction increases with increasing the clearance and radii ratios, while decreases with incre4asing the bearing to journal speed ratio (γ). It is shown during this work that different operating conditions are greatly enhanced the performance

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Publication Date
Wed May 10 2023
Journal Name
Journal Of Engineering
Effect of the Iranian Seperation Dikes on the Water Salinity Patterns Within Al Huweizah Marsh
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Al Huweizah Marsh is considered as the largest marsh at the southern part of Iraq. About one third of the marsh is located within the Iranian territory. Iran began to construct earth dikes along the Iraqi-Iranian international borders to separate the Iranian part of the marsh. The electrical conductivity, EC, value was adopted to be the indicator for the water salinity within the marsh. A steady two-dimensional water quality routing model was implemented by using the RMA2 and RMA4 softwares within the SMS computer package to estimate the distribution of the
EC values within the marsh seasonally during the wet, moderate and dry water years. The EC distribution Patterns were estimated considering the expected two cases of the marsh futu

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Publication Date
Wed Jul 01 2020
Journal Name
Journal Of Engineering
Using Adaptive Neuro Fuzzy Inference System to Predict Rate of Penetration from Dynamic Elastic Properties
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Rate of penetration plays a vital role in field development process because the drilling operation is expensive and include the cost of equipment and materials used during the penetration of rock and efforts of the crew in order to complete the well without major problems. It’s important to finish the well as soon as possible to reduce the expenditures. So, knowing the rate of penetration in the area that is going to be drilled will help in speculation of the cost and that will lead to optimize drilling outgoings. In this research, an intelligent model was built using artificial intelligence to achieve this goal.  The model was built using adaptive neuro fuzzy inference system to predict the rate of penetration in

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Publication Date
Mon Jan 01 2018
Journal Name
Matec Web Of Conferences
Assessing the performance of commercial Agisoft PhotoScan software to deliver reliable data for accurate3D modelling
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3D models delivered from digital photogrammetric techniques have massively increased and developed to meet the requirements of many applications. The reliability of these models is basically dependent on the data processing cycle and the adopted tool solution in addition to data quality. Agisoft PhotoScan is a professional image-based 3D modelling software, which seeks to create orderly, precise n 3D content from fixed images. It works with arbitrary images those qualified in both controlled and uncontrolled conditions. Following the recommendations of many users all around the globe, Agisoft PhotoScan, has become an important source to generate precise 3D data for different applications. How reliable is this data for accurate 3D mo

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Advanced Pharmacy Education And Research
Co-surfactant effect of polyethylene glycol 400 on microemulsion using BCS class II model drug
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Publication Date
Sun Jan 01 2023
Journal Name
Alexandria Engineering Journal
Calcium/iron-layered double hydroxides-sodium alginate for removal of tetracycline antibiotic from aqueous solution
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Publication Date
Wed Oct 09 2024
Journal Name
Engineering, Technology & Applied Science Research
Experimental Investigation of Composite Circular Encased GFRP I-Section Concrete Columns under Different Load Conditions
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Pultruded materials made of Fiber-Reinforced Polymer (FRP) come in a broad range of shapes, such as bars, I-sections, C-sections, etc. FRP materials are starting to compete with steel as structural materials owing to their great resistance, low self-weight, and cheap maintenance costs, especially in corrosive conditions. This study aims to evaluate the effectiveness of a novel concrete Composite Column (CC) using Encased I-Section (EIS) as a reinforcement in contrast to traditional steel bars by using Glass Fiber-Reinforced Polymer (GFRP) as I-section (CC-EIS) to evaluate the effectiveness of the hybrid columns which have been built by combining GFRP profiles with concrete columns. To achieve the aims of this study, nine circular co

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Publication Date
Thu Jun 01 2023
Journal Name
Chemical Physics Impact
An efficient Ag decorated CeO2 synergetic catalyst for improved catalytic reduction of lethal 4-nitrophenol
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Catalytic reduction is considered an effective approach for the reduction of toxic organic pollutants from the environment, but finding an active catalyst is still a big challenge. Herein, Ag decorated CeO2 catalyst was synthesized through polyol reduction method and applied for catalytic reduction (conversion) of 4-nitrophenol (4-NP) to 4-aminophenol (4-AP). The Ag decorated CeO2 catalyst displayed an outstanding reduction activity with 99% conversion of 4-NP in 5 min with a 0.61 min−1 reaction rate (k). A number of structural characterization techniques were executed to investigate the influence of Ag on CeO2 and its effect on the catalytic conversion of 4-NP. The outstanding catalytic performances of the Ag-CeO2 catalyst can be assigne

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