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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
Sun Jan 01 2012
Journal Name
Indian Journal Of Dermatology
Lactic acid as a new therapeutic peeling agent in the treatment of lifa disease (frictional dermal melanosis)
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Publication Date
Mon Jul 01 2024
Journal Name
Iop Conference Series: Earth And Environmental Science
Changes in the Growth and Yield of Broccoli Grown in the Alternative Solution ABEER, Affected by Gas Enrichment and Spraying with Organic Nutrients under the Hydroponic Cultivation System
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Abstract<p>A Field experiment was conducted in Horticulture and Landscape Department, College of Agricultural Engineering Sciences, University of Baghdad, Al-Jadriah during fall 2019-2020 to study changes in the growth and yield of broccoli grown in the alternative solution ABEER, affected by gas enrichment and spraying with coconut water and moringa aqueous extract under the hydroponic cultivation system. Nested design with three replications adopted in the experiment, each of them included in main plot the first factor, which is gas enrichment (O<sub>2</sub> and O<sub>3</sub>), Then levels of second factor were randomly distributed within each replicate, which included spra</p> ... Show More
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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
The Difficulties which Face Public Basic School Principals in Jarash Governorate in Editing Formal Letters and Correspondence and Means of Dealing With These Problems as Perceived by Them
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This study aimed at identity baying the difficulties which face public basic school
principals in jar ash governorate in editing formal letters and correspondence and means of
debating with these problems to collect data the researchers developed a question air were
established the population of the study which represents its sample consisted of 129 principals
65 males and 64 females
The results of the study revealed that the principals face difficulties in office and file
management in preparing plans and reports and writing formal letters and answering them
saved recommendations were presented among which were organizing training sessions and
workshops to train the principals on how to dead with there problems.<

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Publication Date
Thu Dec 12 2013
Journal Name
Iraqi Journal Of Science
Determination of Optimum Mechanical Drilling Parameters for an Iraqi Field with Regression Model
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Publication Date
Thu Sep 07 2023
Journal Name
Journal Of Language Studies
A Sociolinguistic Study of Selected Iraqi-Arabic Dialects with Reference to TV Series
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The dramatic series on television have a great impact on people’sattitudes towards dialects of language varieties, by relating theconceptual pictures or prototypes presented by series’ characters tothose dialects. This study aims to show the influence of TV series onIraqi university learners’ gender and age in relating positive ornegative semantic qualities to their dialects. To this end, 150 Iraqi EFLlearners have participated in this study to examine their attitudestowards Baghdadi, Mousli and Nasiriya dialects. The data arecollected by Lambert, Hodgson, Gardner, Fillenbaum's (1960)matched guise technique and then labeled by Willmorth’s (1988)subjective reaction test. A structured interview is conducted to supportthe data

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Publication Date
Sun Dec 22 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Belief about Medicines among a Sample of Iraqi Patients with Rheumatoid Arthritis
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Rheumatoid arthritis is a chronic, progressive, inflammatory autoimmune disease of unidentified etiology, associated with articular, extra-articular and systemic manifestation that require long-standing treatment. Taking patient’s beliefs about the prescribed medication in consideration had been shown to be an essential factor that affects adherence of the patient in whom having positive beliefs is an essential for better adherence. The purpose of the current study was to measure beliefs about medicines among a sample of Iraqi patients with Rheumatoid arthritis and to determine possible association between this belief and some patient-certain factors. This study is a cross-sectional study carried out on 250 already diagnosed rheumatoid

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Publication Date
Thu Oct 28 2021
Journal Name
International Journal Of Research In Social Sciences And Humanities
Analysis of the Sustainable Value Chain and its Role in Reducing Quality Costs
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Contemporary developments in various sciences and the impact of technological changes require an integrated vision of the activities and work of the organization in Iraq in light of the high costs of products and their low quality compared to imported products of high quality and low cost, and the need to use modern cost techniques based on a clear and specific philosophy that contributes to increasing the efficiency and effectiveness of management In the business environment and how it can contribute to reducing product costs and being environmentally friendly at the same time, it is no secret that the main goal of most organizations is to maximize profitability and reduce costs to the minimum, but this matter is not achieved autom

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Publication Date
Sat Jan 01 2022
Journal Name
Jordan Journal Of Modern Languages And Literatures
Pragmatic Analysis of Impolite Speech Acts and their Verbal Responses in Shakespeare’s Hamlet *
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Publication Date
Wed Mar 29 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Measurement and Analysis of Bubble Size Distribution in the Electrochemical Stirred Tank Reactor
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The dimensions of bubbles were measured in a stirrer tank electrochemical reactor, where the analysis of the bubble size distribution has a substantial impact on the flow dynamics. The high-speed camera and image processing methods were used to obtain a reliable photo. The influence of varied air flow rates (0.3; 0.5; 1 l/min) on BSD was thoroughly investigated. Two types of distributors (cubic and circular) were examined, and the impact of various airflow rates on BSD was investigated in detail. The results showed that the bubbles for the two distributors were between 0.5 and 4.5 mm. For both distributors at each airflow, the Sauter mean diameter for the bubbles was calculated. According to the results, as the flow rate raised, the bubb

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Publication Date
Sat May 24 2025
Journal Name
Journal Of Genetic And Environment Conservation
Morphometric parameters analysis of white and brown Domyati ducks (Local Mallard in Egypt)
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Morphometric traits or body conformation traits also called linear body measurements are important in predicting marketing body weight especially for commercial breeders and producers. The total number of reared Domyati ducklings are 168 hatched, at marketing age (8 wks.) 44 brown and 14 white Domyati ducks were used to estimate the body weight and body measurements such as shank length (ShL), keel length (KL), body circumference (BC), breast length (BrL), breast width (BrW), beak width (BL), and body length (BL). Our results showed that there is no significant difference between both white and brown Domyati ducks for body measurements. There was high positive correlation among body weight and body measurements on both white and bro

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