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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 Aug 31 2020
Journal Name
Journal Of Research In Medical And Dental Science
The Effect of Super Oxidized Water Mouthwash on the Level of IL 1? in Gingival Crevicular Fluid for Patients with Gingivitis Randomized Clinical Trial
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Background: One of the most predominant periodontal diseases is the plaque induced gingivitis. For the past 20 years, super-oxidized solutions have be..

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Publication Date
Wed Sep 30 2020
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Digital Rock Samples Porosity Analysis by OTSU Thresholding Technique Using MATLAB
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Porosity plays an essential role in petroleum engineering. It controls fluid storage in aquifers, connectivity of the pore structure control fluid flow through reservoir formations. To quantify the relationships between porosity, storage, transport and rock properties, however, the pore structure must be measured and quantitatively described. Porosity estimation of digital image utilizing image processing essential for the reservoir rock analysis since the sample 2D porosity briefly described. The regular procedure utilizes the binarization process, which uses the pixel value threshold to convert the color and grayscale images to binary images. The idea is to accommodate the blue regions entirely with pores and transform it to white in r

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Publication Date
Sat Aug 01 2015
Journal Name
Journal Of Engineering
Choosing Appropriate Distribution ‏‎by Minitab’s 17 Software to Analysis System Reliability
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This research aims to choose the appropriate  probability ‎ distribution  ‎‏‎ to the reliability‎        analysis‎ for  an   item through ‎ collected data for operating and stoppage  time of  the case  study.

    Appropriate choice for .probability distribution   is when  the data look to be on or  close the form fitting line for probability plot and test the data  for  goodness of fit .

     Minitab’s 17 software  was used ‎  for this  purpose after  arranging collected data and setting it in the the program‎.

 &nb

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Publication Date
Wed Jun 01 2022
Journal Name
Political Sciences Journal
The Problem of Political Empowerment of Women with Disabilities in Light of Iraqi Legislation
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Democracy in any country is measured by the cultural, social and economic level reached by women in it in general and women with disabilities in particular, and the extent of their participation in political life and political decision-making. As a result of the patriarchal power that societies have known, including Iraq, history has witnessed multiple types and forms of discrimination against women, which differed from one country to another, this matter has pushed women and since the beginning of the last century the issue of women's rights has been raised at the global, regional and national levels, through holding international conferences and agreements In order to empower women in all social, economic and political fields.

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Publication Date
Thu May 01 2025
Journal Name
Microbes And Infectious Diseases
Molecular detection and the frequency of a pore-forming toxin in Enterococcus faecalis isolated from urinary tract infections
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Publication Date
Sat Apr 01 2023
Journal Name
Iop Conference Series: Earth And Environmental Science
Using PCR and Gel Electrophoresis Techniques to Molecular Confirm and Detection for Flowering Gene Presence in Maize Hybrids
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Abstract<p>The laboratory experiment was conducted in the laboratories of the Musayyib Bridge Company for Molecular Analyzes in the year 2021-2022 to study the molecular analysis of the inbreed lines and their hybrids F1 to estimate the genetic variation at the level of DNA shown by the selected pure inbreed lines and the resulting hybrids F1 of the flowering gene. Five pure inbreed lines of maize were selected (ZA17WR) Late, ZM74, Late, ZM19, Early ZM49WZ (Zi17WZ, Late, ZM49W3E) and their resulting hybrids, according to the study objective, from fifteen different inbreed lines with flowering time. The five inbreed lines were planted for four seasons (spring and fall 2019) and (spring and fall 2</p> ... Show More
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Publication Date
Sat Dec 01 2012
Journal Name
Journal Of Engineering
Nonlinear Finite Element Analysis of Steel Fiber Reinforced Concrete Deep Beams With and Without Opening
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This paper presents a nonlinear finite element modeling and analysis of steel fiber reinforced concrete (SFRC) deep beams with and without openings in web subjected to two- point loading. In this study, the beams were modeled using ANSYS nonlinear finite element
software. The percentage of steel fiber was varied from 0 to 1.0%.The influence of fiber content in the concrete deep beams has been studied by measuring the deflection of the deep beams at mid- span and marking the cracking patterns, compute the failure loads for each deep beam, and also study the shearing and first principal stresses for the deep beams with and without openings and with different steel fiber ratios. The above study indicates that the location of openings an

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Publication Date
Sun Oct 09 2022
Journal Name
Chemical Methodologies
Synthesis, Characterization, Thermal Analysis and Bioactivity of Some Transition Metals Complexes with New Azo Ligand
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4-Amino-N-(5-methyl-isaxazol-3-yl)-benzenesulfonamide, a new azo (LH) ligand, was synthesized by reacting the diazonium salt of Sulfamethoxazole with coupling compound 3-amino phenol. Spectroscopic techniques (UV-Vis, FTIR, 1H &13C-NMR, and LC-Mass) as well as micro elemental analyses (C.H.N.O) and TGA and SDC were used to identify the azo ligand. Complexes of (Zn(II), Cr(III), Cu(II) and VO(II)) were produced and characterized by atomic absorption, elemental microanalysis, infrared, LC-Mass, TGA, DSC and UV-Vis spectral techniques, as well as conductivity and magnetic quantifications. All the complexes had a 1:2 metal-ligand ratio, and non-electrolytes at all complexes and tetrahedral geometry suggested except Cr-complex, which demonstrate

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Publication Date
Wed Jan 04 2023
Journal Name
Frontiers In Chemestry
Thermal and flow performance analysis of a concentrated linear Fresnel solar collector with transverse ribs
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This article deals with the impact of including transverse ribs within the absorber tube of the concentrated linear Fresnel collector (CLFRC) system with a secondary compound parabolic collector (CPC) on thermal and flow performance coefficients. The enhancement rates of heat transfer due to varying governing parameters were compared and analyzed parametrically at Reynolds numbers in the range 5,000–13,000, employing water as the heat transfer fluid. Simulations were performed to solve the governing equations using the finite volume method (FVM) under various boundary conditions. For all Reynolds numbers, the average Nusselt number in the circular tube in the CLFRC system with ribs was found to be larger than that of the plain abs

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Publication Date
Sat Mar 31 2018
Journal Name
Journal Of Engineering
Energy and Exergy Analysis of Dual Channel Solar Air Collector with Different Absorber Plates Geometry
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Flat-plate collector considers most common types of collectors, for ease of manufacturing and low price compared with other collectors. The main aim of the present work is to increase the efficiency of the collector, which can be achieved by improving the heat transfer and minimize heat loss experimentally. Five types of solar air collectors have been tested, which conventional channel with a smooth absorber plate (model I), dual channel with a smooth absorber plate (model II), dual channel with perforating “V” corrugated absorber plate (model III), dual channel with internal attached wire mesh (model Ⅳ), and dual channel with absorber sheet of transparent honeycomb, (model Ⅴ). The dual channel collector used for

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