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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
Sat Dec 27 2025
Journal Name
Research Journal Of Chemistry And Environment
Adsorption of Bromocresol Purple Dye from Aqueous Solutions onto Attapulgite Surface
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The finding of novel pollutants in a multitude of surface water bodies worldwide has recently caused environmentalists to face challenges. Therefore, the development of low-cost, efficient technologies is required to provide a safe, pollution-free water environment. The attapulgite surface was used in this study because it has a good absorbent surface for removing bromocresol purple dye from its aqueous solutions. Because attapulgite has a high absorption capacity, it can be used to remove pollutants in both its normal and modified states. Factors affecting adsorption were studied, such as the weight of the adsorbent surface, the initial concentration of the adsorbent, contact time, and the effect of temperature. Clay was ground, cleaned mu

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Publication Date
Thu Jul 01 2010
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
SEDIMENTO LOGICAL STUDY OF SHIRANISH FORMATION WELL DD-1 (N-IRAQ)
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Shiranish formation has been divided into two microfacies units: 1-Marly biowacke stone facies 2-Biogenic pack stone facies These microfacies reflected marine deep shelf margin in the upper part of the formation, the lower part was deeper. 238 slides were investigated depending on Mineralogical, compositional and Biological processes, which reflect deep shelf margin at upper part of the formation, but at the lower part open sea environment. The age of the formation is estimated depending on the recognized biostratigraphic zone using the index fossils to be Upper- Middle Maestrichtian.

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Publication Date
Wed Dec 15 2021
Journal Name
Abstract And Applied Analysis
Dynamical Behaviors of a Fractional-Order Three Dimensional Prey-Predator Model
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In this paper, the dynamical behavior of a three-dimensional fractional-order prey-predator model is investigated with Holling type III functional response and constant rate harvesting. It is assumed that the middle predator species consumes only the prey species, and the top predator species consumes only the middle predator species. We also prove the boundedness, the non-negativity, the uniqueness, and the existence of the solutions of the proposed model. Then, all possible equilibria are determined, and the dynamical behaviors of the proposed model around the equilibrium points are investigated. Finally, numerical simulations results are presented to confirm the theoretical results and to give a better understanding of the dynami

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Publication Date
Sun Dec 06 2015
Journal Name
Baghdad Science Journal
A new species of Solanum L.(Solanaceae) from Baghdad city Iraq
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Solanum americanum is a new annual shrubby plant seen recently in fields and gardens of Baghdad city. A new species is described and illustrated, inhabit wet or semi dry places and have consequently a mesophytic habit. A detailed morphological study of the stems, leaves, Inflorescence, flower, male and female reproductive organs and fruits has been done, revealed several interesting taxonomic characteristics, which have not previously been studied in Iraq. Also, anatomical studies reveals constant taxonomical characteristics such as the presence of anthocayanine in outer row of epidermis, distinct chlorenchyma in whole cortex, the wide pith of stems, and presence of distinct mesophyll that differentiated into palisade layer and spongy laye

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Publication Date
Sun Jul 31 2022
Journal Name
International Review Of Civil Engineering (irece)
Bearing Capacity Factor of Shallow Foundation on Reinforced Sloped Clayey Soil
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The placement of buildings and structures on/or adjacent to slopes is possible, but this poses a danger to the structure due to failures that occur in slopes. Therefore, a solution or improvement should be determined for these issues of the collapse of the structure as a result of the failure of the slopes. A laboratory model has been built to test the impact of some variables on the bearing capacity factor. The variables include the magnitude of static axial load applied at the center of footing, the depth of embedment, the spacing between geogrid reinforcement layer and the numbering of the geogrid sheet under the footing, the inclination angle of slope clayey soil (β), the spacing between the footing's edge and the slope's end (b/H). Th

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Publication Date
Sat Dec 27 2025
Journal Name
Research Journal Of Chemistry And Environment
Adsorption of Bromocresol Purple Dye from Aqueous Solutions onto Attapulgite Surface
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The finding of novel pollutants in a multitude of surface water bodies worldwide has recently caused environmentalists to face challenges. Therefore, the development of low-cost, efficient technologies is required to provide a safe, pollution-free water environment. The attapulgite surface was used in this study because it has a good absorbent surface for removing bromocresol purple dye from its aqueous solutions. Because attapulgite has a high absorption capacity, it can be used to remove pollutants in both its normal and modified states. Factors affecting adsorption were studied, such as the weight of the adsorbent surface, the initial concentration of the adsorbent, contact time, and the effect of temperature. Clay was ground, cleaned mu

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Publication Date
Mon Jan 02 2017
Journal Name
Al-academy
Structural elements of composition design for fabrics image Image footage model
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End of the twentieth century witnessed by the technological evolution Convergences between the visual arts aesthetic value and objective representation of the image in the composition of the design of the fabric of new insights and unconventional potential in atypical employment. It is through access to the designs of modern fabrics that address the employment picture footage included several scenes footage from the film, which focuses on research and analytical as a study to demonstrate the elements of the picture and the organization of its rules and how to functioning in the design of fabrics, Thus, it has identified the problem by asking the following: What are the elements of the picture footage and how the functioning of the struct

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Publication Date
Tue Jun 01 2021
Journal Name
Iop Conference Series: Earth And Environmental Science
Implementation of hierarchically porous zeolite-polymer membrane for Chromium ions removal
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Abstract<p>This work deals with the preparation of a zeolite/polymer flat sheet membrane with hierarchical porosity and ion-exchange properties. The performance of the prepared membrane was examined by the removal of chromium ions from simulated wastewater. A NaY zeolite (crystal size of 745.8 nm) was prepared by conventional hydrothermal treatment and fabricated with polyethersulfone (15% PES) in dimethylformamide (DMF) to obtain an ion-exchange ultrafiltration membrane. The permeate flux was enhanced by increasing the zeolite content within the membrane texture indicating increasing the hydrophilicity of the prepared membranes and constructing a hierarchically porous system. A membrane contain</p> ... Show More
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Publication Date
Mon Oct 01 2018
Journal Name
Journal Of Engineering
Evaluation The Performance Geodetic of the Receivers Using Static Positioning Technique
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Global Navigation Satellite System (GNSS) is considered to be one of the most crucial tools for different applications, i.e. transportation, geographic information systems, mobile satellite communications, and others. Without a doubt, the GNSS has been widely employed for different scientific applications, such as land surveying, mapping, and precise monitoring for huge structures, etc. Thus, an intense competitive has appeared between companies which produce geodetic GNSS hardware devices to meet all the requirements of GNSS communities. This study aims to assess the performance of different GNSS receivers to provide reliable positions. In this study, three different receivers, which are produced by different manufacturers, were fi

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Publication Date
Fri Jan 01 2016
Journal Name
International Journal Of Applied Pharmaceutics
Preparation of ferrous sulfate microcapsules as a sustained release dosage forms
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