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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 Oct 02 2024
Journal Name
Translation&linguistics
Verbal forms in French and Iraqi Arabic: a contrastive study
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Publication Date
Sun Sep 04 2011
Journal Name
Baghdad Science Journal
The relationship between Hypertension and weight status in Iraqi population
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Most medical books and researches documented that increased body weight is a predisposing factor to hypertension , and there is recent work in this field as well. In this research , the relationships between hypertension and body weight with age were studied in Iraqi population . It is concluded that diastolic hypertension is separated from systolic and combined hypertension and increased body weight has little effect on increased blood pressure.

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Publication Date
Mon Feb 19 2018
Journal Name
Al-academy
Figurative theory (Gestalt) and its applications in Iraqi musical templates
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The musical templates are the fundamental reason for admiration and interest among a lot of cultural and societal medias because of the beauty of it's melodic value, where a lot of Iraqi singing and music specialists and composers try to consolidate daily life idea and translate it into music in a manner that preserve the template and rhythm horizontally and vertically, through the involvement of the scientific and philosophical concepts and theories of modern thought to reach the recipient,, as is the theory of form (Gestalt), one of the most important theories that stretched to their interpretations to the field in general art and in music science, especially, as an area that can be manifested as partial components template music, conn

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Publication Date
Tue Jun 15 2021
Journal Name
Arab World English Journal
Impoliteness and Threat Responses in an Iraqi-Kurdish EFL Context
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This study shows impoliteness as a form of face-threatening that can be intentionally caused by verbal threats in a particular setting. It investigates: what strategies and mitigators do Iraqi-Kurdish English as a foreign language (EFL) learners use in situations of threat responses? The present investigation paper aims to examine impoliteness strategies and mitigators by these learners when they respond to threatening situations in their context. Thus, it fills a gap in pragmatics literature by investigating the reactions to threats in an Iraqi-Kurdish EFL context. To this end, 50 participants have participated in this study. An open-ended questionnaire in the form of a Discourse Completion Task (DCT) is used to elicit responses fr

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Publication Date
Sun Dec 30 2001
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Analyzing and Optimizing Bits Performance in Three Iraqi Oil-Fields
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Publication Date
Fri Mar 15 2019
Journal Name
Journal Of The College Of Education For Women
The Moral Value in Iraqi Society between Change and Constant
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The problem of constant and change values is one of the important problems that the philosophy thought had faced as the religious and social studies had taken it as it considers as one of the most dangerous which touch the basic . the research deals with the effect of change value of new Iraqi situation to be as an attempt , as participation or an excitement that can be occupied a space through the area of questions on the fix and change of moral values shed light on the economical ,social and political events that the Iraqi society passes through them .it is part of interests that becomes importance to everyone through the light of moral change Which is arbitrary to the life of the individual .It is not possible to rebuild the society o

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Publication Date
Wed Jun 03 2020
Journal Name
Political Sciences Journal
The general budget and censorship on it in Iraqi legislation
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The main idea of the financial censorship is to submit the states funds to a censorship because they are the funds of the people and because this censorship is a right and role ensured by the constitution for specific devices in the state, thus the role of the financial censor should be launched to achieve this goal in all walks of the state. • The power of this censorship depends basically on the independence of the censorious bodies over a job which is submitted to this censorship and the censor should have a reverence , this censorship is practiced as a precautionary procedure before preparing the budget to avoid mistakes after and during the execution for maintaining the states funds. • The importance of the censorship comes from

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Publication Date
Mon Jun 29 2026
Journal Name
Al–bahith Al–a'alami
News in Brief and Their Role in Public Understanding of News Content in Iraqi Satellite TV
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News feeds are at the forefront of news forms that are close to the public's attention for their rapid news content in two directions:

  1. its speed in summarizing events in one or two sentences easy to be understood and realized.
  2. highlight the most important contents of screenings or news broadcast.

The researchers felt that the importance of these brief news compared to news broadcast, breaking news and news subtitle are still ambiguous, as well as their contents.

The researchers selected the city of Baghdad as a community to research and prepare a questionnaire form containing (11) questions.

The questionnaires were distributed to a non-relative stratified

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Publication Date
Sun Jan 01 2012
Journal Name
Al-taqni Journal
The Frequency of Urinary Tract Infection According to the Age and Sex in Some of Iraqi Children.
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Publication Date
Wed Nov 11 2020
Journal Name
Journal Of Research In Medical And Dental Science
Effect of Topical Melatonin Application on the Peri-Implant Proximal Bone Level and Cortical Plate Thickness (Pilot Clinical Trial)
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