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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 Oct 01 2022
Journal Name
Baghdad Science Journal
Design of a Simple Dust Removal System for a Solar Street Light System
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      Dust and bird residue are problems impeding the operation of solar street lighting systems, especially in semi-desert areas, such as Iraq. The system in this paper was designed and developed locally using simple and inexpensive materials. The system runs automatically. It Connects to solar panels used in solar street lighting, and gets the required electricity from the same solar system. Solar panels are washed with dripping water in less than half a minute by this system. The cleaning period can also be controlled. It can also control, sensing the amount of dust the system operates. The impact of different types of falling dust on panels has also been studied. This was collected from different winds and studied their impact o

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Publication Date
Tue Mar 05 2024
Journal Name
5th International Conference On Biomedical And Health Sciences
Antimicrobial Activity Zinc Oxide ZnO Nanoparticles Against Biofilm Formation of Uropathogenic E. coli
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Publication Date
Sun Mar 01 2020
Journal Name
Baghdad Science Journal
Dynamic Response of a Nonlinear Fabry-Perot Etalon for Various Medium Response Times
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     In this work, the switching nonlinear dynamics of a Fabry-Perot etalon are studied. The method used to complete the solution of the differential equations for the nonlinear medium. The Debye relaxation equations solved numerically to predict the behavior of the cavity for modulated input power. The response of the cavity filled with materials of different response time is depicted. For a material with a response time equal to = 50 ns, the cavity switches after about (100 ns). Notice that there is always a finite time delay before the cavity switches. The switch up time is much longer than the cavity build-up time of the corresponding linear cavity which was found to be of the order of a few round-trip ti

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Publication Date
Tue Feb 28 2017
Journal Name
Journal Of Engineering
Removal of Lead (II) from Aqueous Solution Using Chitosan Impregnated Granular Activated Carbon
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The use of biopolymer material Chitosan impregnated granular activated carbon CHGAC as adsorbent in the removal of lead ions  pb.2+   from aqueous solution was studied using batch adsorption mode. The prepared CHGAC was characterized by Scanning Electronic Microscopy (SEM) and atomic-absorption  pectrophotometer. The adsorption of lead ions onto Chitosan-impregnated granular activated carbon was examined as a function of adsorbent weight, pH and
contact time in Batch system. Langmuir and Freundlich models were employed to analyze the resulting experimental data demonstrated that better fitted by Langmuir isotherm model than Freundlich model, with good correlation coefficient. The maximum adsorption capacity calculated f

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Publication Date
Tue Dec 01 2015
Journal Name
Journal Of Engineering
Ten Years of OpenStreetMap Project: Have We Addressed Data Quality Appropriately? – Review Paper
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It has increasingly been recognised that the future developments in geospatial data handling will centre on geospatial data on the web: Volunteered Geographic Information (VGI). The evaluation of VGI data quality, including positional and shape similarity, has become a recurrent subject in the scientific literature in the last ten years. The OpenStreetMap (OSM) project is the most popular one of the leading platforms of VGI datasets. It is an online geospatial database to produce and supply free editable geospatial datasets for a worldwide. The goal of this paper is to present a comprehensive overview of the quality assurance of OSM data. In addition, the credibility of open source geospatial data is discussed, highlighting the diff

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Publication Date
Sun Mar 01 2009
Journal Name
Csasc English Ver., 4th Scientific Conference; College Of Science; Babylon University
Effect of NaCl on the cresyl violet( CV) –sodium dodecyl sulphate (SDS) complex
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Abstract: In this research we study the of added NaCl with concentration (0.2, 0.02)M on the spectral of cationically charged dye (cresyl violet) and anionically charged surfactant (sodium dodecyl sulphate) with different concentration, the result show two peaks appearance the first attributed to micelle and the other formation of dye surfactant complex, in addition to the increase in the quantum efficiency of emission spectrum and shifted toward long wavelength (λmax=692.5nm-626nm).

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Calculate the one – expectation to electronic charge of atomic system contiun two electron
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The aim of this work is to calculate the one- electron expectation value of the electronic charge of atomic system Z=2,3….7 and we compare with He atom . the electronic density function D(r1) of He atom and like ions are evaluated . using Hartree –Fock wave.

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
Is Elective Interval Appendicectomy after Successful Initial Conservative Management of Appendicular Mass Necessary?
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Background The traditional management of appendicular mass is an initial conservative treatment followed by interval appendectomy. Recently interval appendicectomy has been questioned.
Objective: The purpose of this study was to clarify the need and the role of interval appendicectomy after successful initial conservative treatment.
Method: This is a prospective study conducted in a major hospital in Basra from April 2006 to Septemper2010, included 65 patients with appendicular mass which subsequently proved postinflammmatory (phlegmonous) changes of the appendix were treated conservatively.
Results: Routine interval appendicectomy was not performed and needed after successful treatment in the majority of the patients (84.6%). F

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Publication Date
Fri Mar 31 2017
Journal Name
Al-khwarizmi Engineering Journal
Antibacterial Activity of Electrospun Silver Nitrate /Nylon 6 Polymeric Nanofiber Water Filtration Mats
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Bacterial water pollution is a genuine general wellbeing concern since it causes various maladies. Antimicrobial nanofibers can be integrated by incorporating nanobiocides, for example, silver nanoparticles into nanofibers. Nylon 6 was dissolved in formic acid at a concentration of (25 wt. %) and tough antibacterial (AgNO3/Nylon) nanofibers were produced utilizing electrospinning system. Polymer solution was tested before accomplishing electrospinning process to acquire its surface tension, electric conductivity and viscosity, where every one of those parameters increased relatively with increasing concentration of (AgNO3) additions. SEM and EDX spectra were utilized to focus on the morphology, surface elemental mem

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Publication Date
Sat Feb 05 2011
Journal Name
International Journal Of Chemical Reactor Engineering
Mass Transport Properties of a Flow-Through Electrolytic Reactor Using Zinc Reduction System
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An electrolytic process for the removal of Zn(II) from aqueous solution using a parallel amalgamated copper screens cathode operated in the flow through mode is proposed. The current-potential curves recorded at a rotating amalgamated copper disc electrode were used to determine diffusion coefficient of Zn(II). The performance of electrolytic reactor was investigated by using different flow rates at initial zinc ion concentration(48 mg/L). Taking into account the residential Zn(II) concentration, the best results were obtained for cathode potential of (-1.35 V vs. SCE) at flow rate (320 L/h). Zinc ion concentration was found to decrease from 48 mg/L to 1 mg/L during 120 min. of electrolysis. The experimental data are well correlate

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