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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
Sun Jul 09 2023
Journal Name
Journal Of Engineering
Analysis of Mosul and Haditha Dam Flow Data
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The expansion in water projects implementations in Turkey and Syria becomes of great concern to the workers in the field of water resources management in Iraq. Such expansion with the absence of bi-lateral agreement between the three riparian countries of Tigris and Euphrates Rivers; Turkey, Syria and Iraq, is expected to lead to a substantially reduction of water inflow to the territories of Iraq. Accordingly, this study consists of two parts: first part is aiming to study the changes of the water inflow to the territory of Iraq, at Turkey and Syria borders, from 1953 to 2009; the results indicated that the annual mean inflow in Tigris River was decreased from 677 m3/sec to 526 m3/sec, after operating Turkey reserv

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Publication Date
Thu Jun 20 2019
Journal Name
Baghdad Science Journal
Analysis and Development of Customer Billing Telephony System
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The telecommunications industry has gone through series of development efforts to provide quality services to their consumers. Generally, telecommunication industry provides two main services such as telephony and internet which involved customer registration, billing and payment. However, the challenge confronting telecommunications industry is to meet the customer satisfaction in the billing system such as accuracy, easy to understand and unambiguous billing issue. In order to develop Customer Billing Telephony System,a user experience study is conducted to gather the user requirements. Hence, the CBTS was developed that takes into consideration user’s value experience that provides a support for managing and monitoring billing proce

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Publication Date
Sat Aug 01 2015
Journal Name
Journal Of Engineering
Stability and Dynamic Analysis of Laminated Composite Plates
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Buckling and free vibration analysis of laminated rectangular plates with uniform and non uniform distributed in-plane compressive loadings along two opposite edges is performed using the Ritz method. Classical laminated plate theory is adopted. The static component of the applied in- plane loading are assumed to vary according to uniform, parabolic or linear distributions. Initially, the plate membrane problem is solved using the Ritz method; subsequently, using Hamilton’s variational principle, linear homogeneous algebraic equations in terms of unknown are generated, the set of linear algebraic equations can be solved as an Eigen-value problem. Buckling loads for laminated plates with different combinations of bounda

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Publication Date
Wed Jul 01 2015
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
GEOSTATISTICAL ANALYSIS AND MAPPING OF OZONE OVER IRAQ
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    The Ozone Monitoring Instrument (OMI) measures the reflected solar radiation in the ultraviolet and visible part in the spectral range that is between 270 and 500 nm, using two channels with a spectral resolution of about 0.5 nm. Ground-level tropospheric ozone is one of the air pollutants of most concern. In the troposphere, near the Earth's surface, human activities lead to ozone concentrations several times higher than the natural background level. To evaluate the ozone distribution over Iraq, the ozone data from OMI were analyzed using geostatistical techniques. Theoretical spherical models provided the best fit for all monthly experimental variograms. The parameters of these variograms (sill, range and nugget) wer

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Publication Date
Mon Jan 01 2024
Journal Name
Baghdad Science Journal
Synthesis AgO Nanoparticles by Nd:Yag Laser with Different Pulse Energies
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     One technique used to prepare nanoparticles material is Pulsed Laser Ablation in Liquid (PLAL), Silver Oxide nanoparticles (AgO) were prepared by using  this technique, where silver target was submerged in ultra-pure water (UPW)  at room temperature after that Nd:Yag laser which characteristics by 1064 nm wavelength, Q-switched, and 6ns pulse duration was used to irradiated silver target. This preparation method was used to study the effects of laser irradiation on Nanoparticles synthesized by used varying laser pulse energy 1000 mJ, 500 mJ, and 100 mJ, with 500 pulses each time on the particle size. Nanoparticles are characterized using XRD, SEM, AFM, and UV-Visible spectroscopy. All the structural peaks determined by the XRD

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Publication Date
Thu Jan 07 2021
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Thyroid Carcinoma Patients Correlated With Cytomegalovirus by using Insitu Hybridization
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Publication Date
Thu Apr 27 2023
Journal Name
Civileng
Numerical Modeling and Analysis of Strengthened Steel–Concrete Composite Beams in Sagging and Hogging Moment Regions
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Strengthening of composite beams is highly needed to upgrade the capacities of existing beams. The strengthening methods can be classified as active or passive techniques. Therefore, the main purpose of this study is to provide detailed FE simulations for strengthened and unstrengthened steel–concrete composite beams at the sagging and hogging moment regions with and without profiled steel sheeting. The developed models were verified against experimental results from the literature. The verified models were used to present comparisons between the effect of using external post-tensioning and CFRP laminates as strengthening techniques. Applying external post-tensioning at the sagging moment regions is more effective because of the e

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Publication Date
Tue Sep 01 2015
Journal Name
Iosr Journal Of Dental And Medical Sciences
Prevalence of prediabetes and metabolic syndrome and their association in an Iraqi sample
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Abstract: Background: Prediabetes and are increasing in prevalence all over the world, they each carry risks to the future development of diabetes mellitus and cardiovascular disease. These risks will be greatly exaggerated if they occur together in the same individual. The aim of the study was to find the prevalence and the association of prediabetes and metabolic syndrome, in addition to analyzing the correlation of the risk factors that lead to their development. Material and Methods: This was a cross-sectional, simple random study that included 300 Iraqi individuals, aged between 30-75 years, who accepted to take part in this study were recruited. Result: Prevalence of prediabetes and metabolic syndrome was (33.66%) and (42%) r

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Publication Date
Sun May 08 2022
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The effect of the relationship between the internal auditor and the external auditor on the Earnings quality in Iraqi companies listed in the Iraqi Stock Exchange
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The changes that have occurred in the business environment and scientific and technological progress, as well as the complexity of administrative problems resulting from its practice of various activities, have led to an increase in the responsibilities entrusted to it, and for the purpose of achieving its strategic objectives, which has made the pillars of corporate governance an inevitable matter required by the nature of modern scientific management of the governorate, the success that companies seek is based on the fertile environment and the dialectical relationship between the individual and the company, and to achieve this success there must be a compatible and harmonious audit environment between the internal and external

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Publication Date
Mon May 01 2017
Journal Name
Nano Hybrids And Composites
White Light Generation from Electroluminescence Devices Using TPD:PMMA/QDs/Alq<sub>3</sub>
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Quantum dots of CdSe, CdS and ZnS QDs were prepared by chemical reaction and used to fabricate organic quantum dot hybrid junction device. QD-LEDs were fabricated using layers of ITO/TPD: PMMA/CdSe/Alq3, ITO/TPD: PMMA/CdS/Alq3 and ITO/TPD: PMMA/ZnS/Alq3 devices which prepared by phase segregation method. The hybrid white light emitting devices consists, of three-layers deposited successively on the ITO glass substrate; the first layer was of N, N’-bis (3-methylphenyl)-N, N’-bis (phenyl) benzidine (TPD) polymer mixed with polymethyl methacrylate (PMMA) polymers. The second layer was QDs while the third layer was tris (8-hydroxyquinoline) aluminium (Alq3

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