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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
Wed Aug 28 2019
Journal Name
Journal Of Engineering
Adsorption of Methylene Blue on Prepared Charcoal from Molasses Waste
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Recently, important efforts have been made in an attempt to search for the cheapest and ecofriendly alternatives adsorbents. In the present work, waste molasses from Iraqi date palm (Zahdi) had been used as a provenance to produce charcoal for the removal of methylene blue (MB) dye from water. The optimum prepared charcoal was obtained at 150 C, by increasing temperature to 175 C, the charcoal had almost converted to ash. The obtained charcoal have been inspected for properties using scanning electron microscope (SEM), atomic force microscope (AFM), porosity and surface area. Adsorption data were optimized to Langmuir and Freundlich and adsorption parameters have been evaluated. The thermodynamic parameters like a change

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Publication Date
Wed Jan 01 2020
Journal Name
Journal Of Craniofacial Surgery
Radiographic Assessment of Nasopalatine Canal Using Cone Beam Computed Tomography
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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Educational And Psychological Researches
The Effect of Video Games on Intermediate Students’ Academic Achievement
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The study attempts to identify 1) the habits of playing video games among students, 2) the effect of playing video games on students’ academic achievement, 3) the statistically significant differences among students in regard of (gender, time of playing video games, number of hours). To this end, a five-likert scale questionnaire included four questions was applied to (250) male and female students chosen randomly from the second-intermediate stage at Al-Karakh side secondary schools. The findings revealed that students play games only on holidays and less than an hour daily, which means playing games does not affect their academic achievement. Additionally, the findings found there is a significant difference between male and female i

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Educational And Psychological Researches
The content of intermediate stage biology books for multiple intelligences
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The aim of current study is to analyze the content of intermediate stage biology books based on multiple intelligences. To do this, the researcher used the descriptive analytical approach. To analyze the three books of the intermediate stage, the author adopted content analysis tool and area unit. They were exposed to group of experts in methods of teaching biology, and measurement and evaluation. The findings of the study have shown a significant difference between what was expected and the observation of the multiple intelligences for the three biology books excluded the (social, musical, and kinetic intelligence), and there is no significant difference between the analysis' result of the biology books and the expectations of b

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Engineering
Impact of Induction Motor Faults on the Basic Parameters' Values
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Unlike fault diagnosis approaches based on the direct analysis of current and voltage signals, this paper proposes a diagnosis of induction motor faults through monitoring the variations in motor's parameters when it is subjected to an open circuit or short circuit faults. These parameters include stator and rotor resistances, self-inductances, and mutual inductance. The genetic algorithm and the trust-region method are used for the estimation process. Simulation results confirm the efficiency of both the genetic algorithm and the trust-region method in estimating the motor parameters; however, better performance in terms of estimation time is obtained when the trust-region method is adopted. The results also show the po

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Publication Date
Wed Jul 01 2020
Journal Name
Journal Of Engineering
Examining sensitivity of financial performance at construction projects prequalification stage
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Construction projects are complicated in nature and require many considerations in contractor selection. One of the complicated interactions is that between performance with the project size, and contractor financial status, and size of projects contracted. At the prequalification stage, the financial ‎requirements restrict the ‎contractors to meet minimum limits in financial criteria such as net worth, working capital and ‎annual turnover, etc. In construction projects, however, there are cases when contractors meet these requirements but show low performance in practice. The model used in the study predicts the performance by training of a neural network. The data used in the study are 72 of the most recent roadw

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Publication Date
Tue Feb 28 2017
Journal Name
Journal Of Engineering
Contributory Factors Related to Permanent Deformation of Hot Asphalt Mixtures
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Permanent deformation (Rutting) of asphalt  pavements which appears in many roads in Iraq, have caused a major impact on pavement performance by reducing the useful service life of pavement and creating services hazards for highway users. The main objective of this research is investigating the effect of some contributory factors related to permanent deformation of asphalt concrete mixture. To meet the objectives of this research, available local materials are used including asphalt binder, aggregates, mineral filler and modified asphalt binder. The Superpave mix design system was adopted with varying volumetric compositions. The Superpave Gyratory Compactor was used to compact 24 asphalt concrete cylindrical specimens. To collect t

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Publication Date
Wed Mar 30 2016
Journal Name
College Of Islamic Sciences
The link of destination Using the evidence Analytical Fundamental Study
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This paper seeks to study the link between the fundamentalist evidence based on the observance of governance and interests and the ranks of the three legitimate purposes (necessary, need and detailed). The researcher followed the descriptive-analytical approach. The study reached important results, including that the measurement relates to the three ranks, but predominantly attached to measure the meaning of the need and the need, and the measurement of the semi-formal and semi-predominance improvement. Reclamation is considered by the majority of scholars to be authentic if it is related to the necessity and the need, and that it is not acceptable to improve only by a witness who recommends it. The excuses relate to Hajji and Tahini, no

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Publication Date
Thu Dec 31 2020
Journal Name
Political Sciences Journal
Foreign policy of the Trump Administration Toward the United Nations
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The Trump administration asserts that the actions of the United States are neither constrained by international organizations nor international controls, as they strive to seek a leadership position in a competitive manner, advance the reform of the United Nations in order to gain strength and support for US interests, and promote conservative social values. This negative policy is the result of the influence and mutual influence of long-term isolationism, the "American exception" and popular trends in the United States, as well as the result of the Trump administration's attempt to employ powerful means to revitalize the United States' strong position in the United Nations. However, the Trump administration’s policy toward the United

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Publication Date
Fri Oct 11 2019
Journal Name
Journal Of The College Of Education For Women
Academic Buoyancy of High School students at the Distinguished Schools
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Academic Buoyancy of High School students at the Distinguished Schools

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