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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
Mon Apr 20 2026
Journal Name
Central European Journal Of International And Security Studies
The External Political Impacts of Rescheduling Iraq’s Debts Post-2003
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After 2003, Iraq underwent a profound political and economic transformation, accompanied by various challenges, including the burden of accumulated external debt. The post-regime government restructured Iraq’s debt within the framework of the ‘Paris Club’ and through bilateral negotiations with creditor countries. The debt rescheduling aimed to alleviate the financial burden and reintegrate Iraq into the global financial system, but this process was conditional upon implementing economic and political reforms. External political factors played a crucial role in debt rescheduling. Decisions regarding rescheduling were influenced by the political motives of major powers seeking to achieve strategic gains in Iraq. Additionally, t

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Publication Date
Sat Aug 01 2020
Journal Name
Key Engineering Materials
Quality Control of Production Lightweight Ferrocement Plate Using Sustainable Materials
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This research is concerned with a new type of ferrocement characterized by its lower density and enhanced thermal insulation. Lightweight ferrocement plates have many advantages, low weight, low cost, thermal insulation, environmental conservation. This work contain two group experimental : first different of layer ferrocement, second different of ratio aggregate to cement. The experiments were made to determined the optimum proportion of cement and lightweight aggregate (recycle thermestone ). A low W/C ratio of 0.4 was used with super plasticizer conforming to ASTM 494 Type G. The compressive strength of the mortar mixes is 20-25 MPa. The work also involved the determination of thermal properties .Thermal conductivity value of thi

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Publication Date
Sun Jan 02 2011
Journal Name
Education College Journal/al-mustansiriyah
Double Stage Shrinkage Estimators of Two Parameters Generalized Rayleigh Distribution
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Publication Date
Mon Aug 11 2025
Journal Name
South Asian Research Journal Of Pharmaceutical Sciences
Antioxdent, Antifungal Activities of n-Hexadecanoic Acid Extracted from Algae
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The importance of algae as a natural source of various bioactive compounds continues to grow due to their diverse biological activities. One of such compounds is n-hexadecanoic acid, more commonly known as palmitic acid; it is more lipidous than many algal species. It is one of the most common saturated fatty acids in nature. One can find it in algal, animal, and plant oils and is extracted from numerous natural sources. Its chemical and biological attributes enable its widespread use in the pharmaceutical, food, and cosmetic industries. Numerous studies have found that palmitic acid is effective for fungal activities and does have pharmaceutical and environmental promising antioxidant capabilities.

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Effect of The CO2 Laser as Surface Treatment on The Bond Strength of Heat Cured Soft Liner to The High Impact Acrylic Denture Base Material
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ABSRTACT Background: Soft liner material is become important in dental prosthetic treatment. They are applied to the surface of the dentures to achieve more equal force distribution , reduce localized pressure and improve denture retention by engaging undercut . So the aim of the study is to evaluate the effect of different surface treatment by air-abrasion AL2O3 and laser treatment with CO2 laser on improving the shear bond strength of the denture liner to acrylic denture base material . Materials and methods: the 30 specimens of heat cured acrylic denture base material (high Impact acrylic )and heat cured soft liner (Vertex ,Nether Lands )were prepared for this study .They were designed and divided according to type of the s

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Publication Date
Mon Jun 01 2020
Journal Name
Journal Of The College Of Languages (jcl)
The Labyrinths of the Contemporary French Novel Through the Texts of Patrick Modiano: Les Labyrinthes du Roman Français Contemporain à travers l’Œuvre de Patrick Modiano
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The current paper aims to study the different forms by which the theme of labyrinth imposes itself as a preferred narrative structure in the novels of the French writer Patrick Modiano. Theoretically speaking, the current research paper will limit itself to the theoretical framework of the textual poetics which relies on the study of literary texts without paying much attention, neither to the context, nor to the life of its author. The analysis of the strong and varied links that Modiano's novels establish with labyrinth represents a field which has not received adequate attention by the critical studies dedicated to this French writer. As it will be shown throughout the current paper, Modiano views labyrint

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Publication Date
Tue Jun 15 2021
Journal Name
Al-academy
The Physical Performance Of The Actor Within The Shows Of Anas Abdul Samad ( the play silence as the cry as a model): حليم هاتف جاسم
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The body has the ability to effect the audience in the the theatrical show , since he or she is transmitter , sender , seen and viewer of the humanitarian discourse as well the the images and connotations of the theatrical show, it is a tool of communication that substitutes for millions of spoken words, the modern schools of direction focused on the body language of the actor and gave it prominence in depicting facts by different connotations. The researcher studies the physical performance of the actor throughout focusing on the connotational dimensions of the body within the theatrical show , as well as the positioning of performative body within the modern schools of direction depending on the theatrical show (Rebuke ) of the Iraqi d

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Publication Date
Wed Jun 07 2023
Journal Name
Journal Of Educational And Psychological Researches
Multiple Intelligence Test Item Selection-Based on Howard Gardner's MI Model Using a Generalized Partial Estimation Model: Ministry of Education \ Karkh First Directorate of Education
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The aim of the research is to examine the multiple intelligence test item selection based on Howard Gardner's MI model using the Generalized Partial Estimation Form, generalized intelligence. The researcher adopted the scale of multiple intelligences by Kardner, it consists of (102) items with eight sub-scales. The sample consisted of (550) students from Baghdad universities, Technology University, al-Mustansiriyah university, and Iraqi University for the academic year (2019/2020). It was verified assumptions theory response to a single (one-dimensional, local autonomy, the curve of individual characteristics, speed factor and application), and analysis of the data according to specimen partial appreciation of the generalized, and limits

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Publication Date
Sun May 01 2022
Journal Name
Journal Of Ecological Engineering
Ability of Response Surface Methodology to Optimize Photocatalytic Degradation of Amoxicillin from Aqueous Solutions Using Immobilized TiO<sub>2</sub>/Sand
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Publication Date
Sun Oct 04 2015
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
Study the optimum conditions for production of inulunase from isolate Kluyveromyces marxianus AY2.: Study the optimum conditions for production of inulunase from isolate Kluyveromyces marxianus AY2.
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Results showed that the optimum conditions for production of inulunase from isolate Kluyveromyces marxianus AY2 by submerged culture could be achieved by using inulin as carbon source at a concentration of 2% with mixture of yeast extract and ammonium sulphate in a ratio of 1:1 in a concentration of 1% at initial pH 5.5 after incubation for 42 hours at 30ºC.

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