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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
Tue Dec 22 2020
Journal Name
Lecture Notes In Civil Engineering
Experimental and Numerical Analysis of an Existing Single Pile Movement Due to Tunneling in Sandy Soil
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Publication Date
Sun Feb 28 2021
Journal Name
Iraqi Geological Journal
Facies Analysis and Depositional Stages of The Albian-Aptian Succession in Balad Oil Field, Central Iraq
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Carbonate-clastic succession which includes the Shu'aiba, Nahr Umr and Mauddud formations are representing a part of the Barremian-Aptian Sequence (Wasi'a Group). The present study includes three boreholes (Ba-1, 4 and 8) within the Balad Oil Field. The study area is located in central Iraq. This field represents a subsurface anticline with a northwest to southeast direction axis within the Mesopotamian Zone. Eight types of microfacies were recognized in the succession of the Mauddud and Shu’aiba formations. These microfacies represent shallow open marine, restricted and semi-restricted, reef - back reef, deep open marine and basinal depositional environments. While Nahr Umr Formation includes two successions, the first is the upp

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Publication Date
Sat Apr 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Risk Analysis of Projects Accordance with the Professional Project Management System: A case- Study Mansur Construction Contracting Company here
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The research aims to identify the risks faced by projects and work on the administration, such as those risks by using professional Project Management System (Project Management Professional) by identifying those risks and their impact on the objectives of the project, if they occur and to provide appropriate responses to Ha.autam search application on the draft Law Faculty port by the General Mansour Construction Contracting company has been using a method personal interview with the heads of departments and project managers in the Al-Mansour and tools descriptive and quantitative analysis as was used (likelihood and impact of risk analysis, Ai_kaoa scheme Sbb- effect, analysis of probability and impact, risk matrix (probability

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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
A relationship study of coronavirus (COVID-19) infection, blood groups, and some related factors in Iraqi patients
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Many studies of the relationship between COVID-19 and different factors have been conducted since the beginning of the corona pandemic. The relationship between COVID-19 and different biomarkers including ABO blood groups, D-dimer, Ferritin and CRP, was examined. Six hundred (600) patients, were included in this trial among them, 324 (56%) females and the rest 276 (46%) were males. The frequencies of blood types A, B, AB, and O were 25.33, 38.00, 31.33, and 5.33%, respectively, in the case group. Association analysis between the ABO blood group and D-dimer, Ferritin and CRP of COVID-19 patients indicated that there was a statistically significant difference for Ferritin (P≤0.01), but no-significant differences for both D-dimer and CRP.

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Publication Date
Mon May 01 2017
Journal Name
2017 5th International Conference On Information And Communication Technology (icoic7)
Analysis of the number of ants in ant colony system algorithm
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Publication Date
Fri May 01 2015
Journal Name
2015 International Symposium On Mathematical Sciences And Computing Research (ismsc)
Analysis of significant dimensions of e-service quality in Malaysian universities
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Publication Date
Wed Mar 29 2023
Journal Name
Journal Of The College Of Education For Women
Geographical Analysis of Sanitation Workers in the Urban District of Kut
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Cleaning is one of the services provided by the state and its ad hoc institutions. Every developed country is clean due to the good planning and attention given to the staff of all municipalities and service institutions. Beside, the attention paid to this sector is considered one of the windows to maintain the states’ aesthetics. If janirtos stop disposing of all the discarded wastes, the result will be having big piles of waste, affecting accordingly the health and safety of its citizens and the aesthetics of the areas. The janitors and those responsible for them are tha staff that the state must take care of because of their importance to the state in general and to the province in particular. The importance of the research

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Publication Date
Wed Jun 30 2004
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Theoretical Analysis of Concentric Flow of Spherical Capsule in Laminar Flow
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Publication Date
Sat Dec 14 2019
Journal Name
Journal Of The College Of Education For Women
Analysis of the Structure of Scientific News Headlines in Online Newspapers
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Newspaper headlines are described as compressed and ambiguous pieces of discourse that represent the bodies of the articles. Their main function is to provide the readers with an informative message they would have no prior idea about. Ifantidou (2009) claims that the function of a headline is to get the readers’ attention rather than providing information because it does not have to represent the whole of the article it refers to. This paper aims at examining this hypothesis in relation to scientific news headlines reported by a number of news agencies. The paper follows Halliday (1967) information structure theory by applying it on ten selected headlines; each two headlines represent one scientific discovery reported by different new

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Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
In Silico Analysis of Regulatory Elements of the Vitamin D Receptor
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Vitamin D receptor (VDR) is a nuclear transcription factor that controls gene expression. Its impaired expression was found to be related to different diseases. VDR also acts as a regulator of different pathways including differentiation, inflammation, calcium and phosphate absorption, etc. but there is no sufficient knowledge about the regulation of the gene itself. Therefore, a better understanding of the genetic and epigenetic factors regulating the VDR may facilitate the improvement of strategies for the prevention and treatment of diseases associated with dysregulation of VDR. In the present investigation, a set of databases and methods were used to identify putative functional elements in the VDR locus. Histone modifications, CpG I

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