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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
Tue Oct 30 2018
Journal Name
Https://www.researchgate.net/journal/civil-engineering-journal-2476-3055
Developing Water Quality Index to Assess the Quality of the Drinking Water
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In the present study, an attempt has been to develop a new water quality index (WQI) method that depends on the Iraqi specifications for drinking water (IQS 417, 2009)  to assess the validity of the Euphrates River for drinking by classifying the quality of the river water at different stations along its entire reach inside the Iraqi lands. The proposed classifications by this method are: Excellent, Good, Acceptable, Poor, and Very poor. Eight water quality parameters have been selected to represent the quality of the river water these are: Ion Hydrogen Concentration (pH), Calcium (Ca), Magnesium (Mg), Sodium (Na), Chloride (Cl), Sulphate (SO_4), Nitrate (NO_3), and Total Dissolved Solids (TDS). The variation of the water quality p

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Publication Date
Thu Dec 15 2022
Journal Name
International Journal Of Emerging Technologies In Learning (ijet)
Effect of Augmented Reality Technology on Spatial Intelligence among High School Students
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Spatial Intelligence is a mental ability to understand and solve real-world problems. These visual-spatial representations are fundamental in learning various "STEM" topics, like digital drawing, art presentations, creating graphical representations, 2D designs. Opportunity to interact with real and/or virtual objects. It is a good opportunity in applying new techniques such as the augmenter, which is able to clarify mathematical tables, concepts and generalizations greatly to the visualization, understanding and mastery of concepts mathematically. The purpose of the research is to investigate impact of using AR technology in developing spatial intelligence for secondary school students, Baghdad. The quasi-experimental design was us

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Publication Date
Tue Feb 24 2026
Journal Name
Baghdad Science Journal
Oscillation Conditions for Solutions of First Order Piecewise Constant Neutral Differential Equations
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Publication Date
Wed May 01 2019
Journal Name
Iop Conference Series: Materials Science And Engineering
The impact of UAV flight planning parameters on topographic mapping quality control
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Abstract<p>There is a growing need for up-to-date data for rapid decision making in the modern digital age. Recently, the need for high-resolution topographic maps is highly demanding by most mapping clients. With the maturing automatic structure from mobile and multi-view stereoscopy software, small organizations and individuals now have the ability to make their own surveys based on mobile mapping devices. This study looks at how feasible using low-cost Unmanned Aerial Vehicle (UAV) as a mobile mapping device for photogrammetric topographical surveys. It is showing the impact of different UAV flight settings and parameters on the accuracy of mapping products. An automatic scenario for photogra</p> ... Show More
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Publication Date
Sun Mar 31 2024
Journal Name
The Iraqi Geological Journal
Exploring the Impact of Petrophysical Uncertainties on Recoverable Reserves: A Case Study
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Reliable estimation of critical parameters such as hydrocarbon pore volume, water saturation, and recovery factor are essential for accurate reserve assessment. The inherent uncertainties associated with these parameters encompass a reasonable range of estimated recoverable volumes for single accumulations or projects. Incorporating this uncertainty range allows for a comprehensive understanding of potential outcomes and associated risks. In this study, we focus on the oil field located in the northern part of Iraq and employ a Monte Carlo based petrophysical uncertainty modeling approach. This method systematically considers various sources of error and utilizes effective interpretation techniques. Leveraging the current state of a

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Publication Date
Wed Jan 30 2019
Journal Name
Journal Of The College Of Education For Women
The Minister Historian, The Granadian Ibnul Khateeb, The Sheikh of Granada scientists
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1- The Granadian, Lisan Ad-Din Ibn ul Khateeb, was a brilliant thinker and a great writer who filled Andalus and Morocco with literature and poetry and his genius emerged in different knowledge fields.
2- He was one of Andalus famous people, as he was a first class physician and philosopher, a great historian, a farsighted politician and had a strong cognition.
3- Ibnul Khateeb proved that his age, that he lived in, was a sophisticated in which arts, literatures and sciences thrived.
4- Ibnul Khateeb dedicated his life for the service of Granada Kingdom and that was clear in his writings, both prose and poetry.
5- Ibnul Khateeb witnessed a group of great Andalus scientists and writers, firstly the thinker Ibn Khaldun who sing

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Publication Date
Tue Nov 21 2023
Journal Name
Mater Sci: Mater Electron
Pulsed laser deposition of nanostructured CeO2 antireflection coating for silicon solar cell
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Increasing the power conversion efficiency (PCE) of silicon solar cells by improving their junction properties or minimizing light reflection losses remains a major challenge. Extensive studies were carried out in order to develop an effective antireflection coating for monocrystalline solar cells. Here we report on the preparation of a nanostructured cerium oxide thin film by pulsed laser deposition (PLD) as an antireflection coating for silicon solar cell. The structural, optical, and electrical properties of a cerium oxide nanostructure film are investigated as a function of the number of laser pulses. The X-ray diffraction results reveal that the deposited cerium oxide films are crystalline in nature and have a cubic fluorite. The field

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Publication Date
Thu Dec 01 2022
Journal Name
Baghdad Science Journal
Fabrication of Electrospun Nanofibers Membrane for Emulsified Oil Removal from Oily Wastewater
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The electrospun nanofibers membranes have gained considerable interest in water filtration applications. In this work, the fabrication and characterization of the electrospun polyacrylonitrile-based nonwoven nanofibers membrane are reported. Then, the membrane's performance and antifouling properties were evaluated in removing emulsified oil using a cross flow filtration system. The membranes were fabricated with different polyacrylonitrile (PAN) concentrations (8, 11, and 14 wt. %) in N, N-Dimethylformamide (DMF) solvent resulted in various average fiber sizes, porosity, contact angle, permeability, oil rejection, and antifouling properties. Analyses of surface morphology of the fabricated membranes before and after oil removal revealed

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Publication Date
Fri Sep 06 2024
Journal Name
Journal Of Optics
Optimization photodetection performance: investigation of doping effect on PVA/Y2O3 composite material
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In this work, the photodetection performance of polyvinyl alcohol (PVA) nanofibers and its composite with yttrium oxide (Y2O3) at different concentrations (2.5, 5, 10) wt% are examined deposited on p-type Si with (111) orientation. Electrospinning technique was used to create nanofiber composites. Adding Y2O3 significantly impacts the PVA nanofibers where ultraviolet-visible (UV-Vis) spectroscopy optical absorption energy gap decreases with increased concentration (2.8, 2.6, and 2.3) eV. X-ray diffraction was used to investigate crystal structure, which is cubic structure. The chemical composition study was conducted using Fourier transform infrared spectroscopy (FTIR) spectra, which revealed the stretching vibrations related to the Y-O bon

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Publication Date
Mon Feb 28 2022
Journal Name
International Journal Of Interactive Mobile Technologies (ijim)
Flying Ad hoc Networks (FANET): Performance Evaluation of Topology Based Routing Protocols
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Flying Ad hoc Networks (FANETs) has developed as an innovative technology for access places without permanent infrastructure. This emerging form of networking is construct of flying nodes known as unmanned aerial vehicles (UAVs) that fly at a fast rate of speed, causing frequent changes in the network topology and connection failures. As a result, there is no dedicated FANET routing protocol that enables effective communication between these devices. The purpose of this paper is to evaluate the performance of the category of topology-based routing protocols in the FANET. In a surveillance system involving video traffic, four routing protocols with varying routing mechanisms were examined. Additionally, simulation experiments conduct

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