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Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease
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Objectives: To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. Methods: Fifty-five unrelated children with a clinical diagnosis of Wilson disease (WD) were recruited. Deoxyribonucleic acid was extracted from peripheral blood samples, and variants in the ATP7B gene were identified using next-generation sequencing. Results: Seventy-six deleterious variants were detected in 97 out of 110 alleles of the ATP7B gene. Thirty (54.5%) patients had 2 disease-causing variants (15 homozygous and 15 compound heterozygous). Twelve (21.8%) patients had one disease-causing variant and one variant of uncertain significance (VUS) with potential pathogenicity. Thirteen (23.6%) patients were carriers of a single disease-causing variant. The most frequent variants, c.3305T>C and c.956delC, were detected in 4 alleles each, followed by c.3741-3742dupCA and c.3694A>C, which were detected in 3 alleles each. Among the 76 variants, 42 were missense, 13 were stop-gain, 9 were frameshift, 1 was an in-frame deletion, and 11 were intronic variants. Notably, the globally common variant H1069Q was not detected in this study. Conclusion: The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.

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Publication Date
Thu Jul 04 2024
Journal Name
Journal Of Chemical Technology &amp; Biotechnology
Adsorption of bimetal from aqueous solution on plum seed activated carbon synthesized by pyrocarbonic acid microwave method
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Abstract<sec><title>BACKGROUND

This article presents the simultaneous adsorption of bimetal Cu2+ and Zn2+ from an aqueous solution using activated carbon synthesized from a plum seed precursor by sulfuric acid and microwave activation: plum seeds chemically activated by 45% (w/w) sulfuric acid with 2:1 ratio for 4 h, then carbonized for 2 h at 700 °C and the product obtained activated in a microwave oven for 20 min at 700 W for final of activation. Plum seeds and activated carbon produced were characterized in terms of their physical and chemical composition using Brunauer–Emmett–Teller measurements, field emission scanning electr

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Publication Date
Sat Nov 01 2025
Journal Name
Journal Of Engineering
Improvement of Hot Mix Asphalt Resistance to Permanent Deformation at High Temperature Using Nanomaterial Modifiers: A Review
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The integration of nanomaterials in asphalt modification has emerged as a promising approach to enhance the performance of asphalt pavements, particularly under high-temperature conditions. Nanomaterials, due to their unique properties such as high surface area, exceptional mechanical strength, and thermal stability, offer significant improvements in the rheological properties, durability, and resistance to deformation of asphalt binders. This research reviewed the application of various nanomaterials, including nano silica, nano alumina, nano titanium, nano zinc, and carbon nanotubes in asphalt modification. The incorporation of these nanomaterials into asphalt mixtures has shown potential to increase the stiffness and high-tempera

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Publication Date
Sat Jun 01 2024
Journal Name
Progress In Color, Colorants And Coatings
The Potential of Gundelia Seeds Waste as an Emerging Sustainable Adsorbent for Methylene Blue-Polluted Water Treatment
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Gundelia, a genus of flowering plants native to the Mediterranean region, particularly in Iraq, holds promise as a sustainable adsorbent for the treatment of dye-polluted water. This study explores the potential of Gundelia seeds (GS) waste as a biobased adsorbent for removing methylene blue dye from synthesized wastewater. Utilizing various analytical techniques, including scanning electron microscopy (SEM), Fourier transform infrared (FTIR) spectroscopy, and X-ray diffraction analysis (XRD), we assessed GS as an active adsorbent with performance comparable to fabricated and expensive composites. Key parameters such as pH (3-11), pH at the point of zero charge, temperature (298-328 K), dose (0.02-0.1 g), dye concentration (10-50 ppm), and

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Publication Date
Fri Apr 26 2019
Journal Name
Journal Of Contemporary Medical Sciences
Breast Cancer Decisive Parameters for Iraqi Women via Data Mining Techniques
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Objective This research investigates Breast Cancer real data for Iraqi women, these data are acquired manually from several Iraqi Hospitals of early detection for Breast Cancer. Data mining techniques are used to discover the hidden knowledge, unexpected patterns, and new rules from the dataset, which implies a large number of attributes. Methods Data mining techniques manipulate the redundant or simply irrelevant attributes to discover interesting patterns. However, the dataset is processed via Weka (The Waikato Environment for Knowledge Analysis) platform. The OneR technique is used as a machine learning classifier to evaluate the attribute worthy according to the class value. Results The evaluation is performed using

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Publication Date
Sun Jan 01 2012
Journal Name
Advances In Materials Physics And Chemistry
The Effect of Zn Concentration on the Optical Properties of Cd&amp;lt;sub&amp;gt;10–x&amp;lt;/sub&amp;gt;Zn&amp;lt;sub&amp;gt;x&amp;lt;/sub&amp;gt;S Films for Solar Cells Applications
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Publication Date
Tue Dec 11 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Contribution of Some Managerial Accounting Techniques to Achieve Market Share Requirements / Applied researchin the Al-Muthanna Cement Company
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The research aims to achieve market share requirements and reach the targeted competitive price through the application of management accounting techniques represented by continuous improvement technique and target costing under an Activity Based Cost (ABC) system and Activity Based Management (ABM), In Muthanna Cement Company to reach the rationalization of the cost of the product and maintain the required quality and improve the profitability of the company.

The problem of research has emerged in the inability of local firms to enter into effective competition with other companies operating in the same economic sector, Because of the high cost of its products, Which led to the sale of the product at prices below its cost, and t

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Publication Date
Wed Nov 14 2018
Journal Name
Fiber And Integrated Optics
Design Investigation of 2 × 2 Mach–Zehnder Optical Switch Based on a Metal–Polymer–Silicon Hybrid Plasmonic Waveguide
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In this paper, a miniaturized 2 × 2 electro-optic plasmonic Mach– Zehnder switch (MZS) based on metal–polymer–silicon hybrid waveguide is presented. Adiabatic tapers are designed to couple the light between the plasmonic phase shifter, implemented in each of the MZS arms, and the 3-dB input/output directional couplers. For 6 µm-long hybrid plasmonic waveguide supported by JRD1 polymer (r33= 390 pm/V), a π-phase shift voltage of 2 V is obtained. The switch is designed for 1550 nm operation wavelength using COMSOL software and characterizes by 2.3 dB insertion loss, 9.9 fJ/bit power consumption, and 640 GHz operation bandwidth

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Publication Date
Wed Jan 01 2020
Journal Name
Journal Of Biotech Research
Bacteriocin Production by Staphylococcus Epidermidis the Normal Flora of Outer Ear: A Potential Probiotic Against Outer Ear Infections
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Publication Date
Tue Mar 03 2026
Journal Name
Scr Med
Retrieval of Migrated Guidewire Extending From Right Ventricular Apex to the Inferior Vena Cava via Pigtail-Assisted Snaring
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Intravascular embolisation of foreign bodies (FB) is a rare, serious complication that may occur during central venous line insertion. A 39-yearold male in a critical condition presented to casualty department with a through-and-through chest gunshot wound. Chest X-ray showed left haemothorax; an urgent chest tube was introduced and central venous access was introduced via the right femoral vein. The guided wire used in the procedure was unintentionally pushed to reach the right ventricular apex. Echocardiography confirmed FB location. Once stabilised, the patient was referred to Iraqi Centre of Cardiac Diseases, where transcatheter retrieval was performed. To stabilise the FB, a 6F pigtail catheter was used to create a U-shaped loop in the

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Publication Date
Tue Apr 30 2024
Journal Name
Iraqi Journal Of Science
The Influence of Biologically Synthesized Copper Nanoparticles on the Biofilm Produced by Staphylococcus haemolyticus 1solated from Seminal Fluid
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     Staphylococcus haemolyticus is one of the most frequently isolated coagulase-negative staphylococci. The ability to form biofilm is considered as one of the most important virulence factors of coagulase negative staphylococci. There is only limited knowledge of the nature of S. haemolyticus biofilms. This study was aimed at evaluating the ability of S. haemolyticus strains to produce biofilm in the presence of copper oxide nanoparticles (CuONPs). The biological synthesis of nanoparticles is an environmentally friendly approach for large-scale production of nanoparticles. Copper oxide nanoparticles were produced in the current study from the S. haemolyticus viable cell filtrate. UV-visible (UV-Vis) spectroscopy, X-ray diffra

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