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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
Thu Nov 08 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Risk factor of urinary incontinence among menopausal women at Babylon city
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Purpose: To identify the risk factors of urinary incontinency for menopausal women.
Methodology: A descriptive analytic study was conducted to identify the risk factor for urinary incontinency
and selected non-probability sample (purposive sample) from (200) menopausal women (45-65) who have
urinary incontinence as visitors and caregiver women who attend at Hila surgical teaching hospital during the
period 1/11/2010-30/3/2011. Questionnaire format used for data collection was designed and constructed
after reviewing related literatures and previous studies and consists of the following variables: Demographic
and reproductive characteristics of menopausal women who suffers from urinary incontinence
Results: The study

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Publication Date
Mon Jul 31 2017
Journal Name
Journal Of Engineering
Assessment of Water Clarity within Dokan Lake Using Remote Sensing Techniques
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Publication Date
Mon Dec 20 2021
Journal Name
Baghdad Science Journal
Design of L-Band Multiwavelength Laser for TDM/WDM PON Application
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This paper presents on the design of L-Band Multiwavelength laser for Hybrid Time Division Multiplexing/ Wavelength Division Multiplexing (TDM/WDM) Passive Optical Network (PON) application. In this design, an L-band Mulltiwavelength Laser is designed as the downstream signals for TDM/WDM PON. The downstream signals ranging from 1569.865 nm to 1581.973 nm with 100GHz spacing. The multiwavelength laser is designed using OptiSystem software and it is integrated into a TDM/WDM PON that is also designed using OptiSystem simulation software. By adapting multiwavelength fiber laser into a TDM/WDM network, a simple and low-cost downstream signal is proposed. From the simulation design, it is found that the proposed design is suitable to be used

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Publication Date
Tue Dec 29 2020
Journal Name
Journal Of Mechanics Of Continua And Mathematical Sciences
NUMERICAL INVESTIGATION OF DEVELOPING LAMINAR FLUID FLOW THROUGH RECTANGULAR ANNULUS DUCT
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The laminar fluid flow of water through the annulus duct was investigated numerically by ANSYS fluent version 15.0 with height (2.5, 5, 7.5) cm and constant length (L=60cm). With constant heat flux applied to the outer duct. The heat flux at the range (500,1000,1500,2000) w/m2 and Reynolds number values were ≤ 2300. The problem was 2-D investigated. Results revealed that Nusselt number decrease and the wall temperature increase with the increase of heat flux. Also, the average Nusselt number increase as Re increases. And as the height of the annulus increase, the values of the temperature and the local and average Nusselt number increase.

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Publication Date
Thu Jan 16 2020
Journal Name
Periodicals Of Engineering And Natural Sciences
Comparison of some reliability estimation methods for Laplace distribution using simulations
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In this paper, we derived an estimator of reliability function for Laplace distribution with two parameters using Bayes method with square error loss function, Jeffery’s formula and conditional probability random variable of observation. The main objective of this study is to find the efficiency of the derived Bayesian estimator compared to the maximum likelihood of this function and moment method using simulation technique by Monte Carlo method under different Laplace distribution parameters and sample sizes. The consequences have shown that Bayes estimator has been more efficient than the maximum likelihood estimator and moment estimator in all samples sizes

Publication Date
Sun Oct 21 2018
Journal Name
Iraqi Journal Of Physics
A simple voice communication using the modulation of the reflected light
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There is no adopt in the importance of the optical communications in scientific civil and military applications because of it’s simplicity in manufacturing and it's low cost. The method of optical communication depends upon bearing the light beam the translated informations by a method called the light modulation. This method depends upon changing some light properties as frequency, amplitude and pulse duration according to the translating informations. The changes in the first two properties are concerned optically with the analog modulation while the third one concern at most with digital modulation. All past methods are expensive with low efficiency and needs electrical or magnetic fields. In this technique the source of voice used

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Heun Method Using to Solve System of NonLinear Functional Differential Equations
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In this paper Heun method has been used to find numerical solution for first order nonlinear functional differential equation. Moreover, this method has been modified in order to treat system of nonlinear functional differential equations .two numerical examples are given for conciliated the results of this method.

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Publication Date
Sat Dec 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
Development of Sinusitis After Sinus Floor Elevation Surgery: A Systematic Review
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Background: Maxillary sinusitis can arise after sinus floor elevation surgery and should be treated immediately to prevent further complications which included dental implants failure, graft lost, and oro-antral fistula. This is the first systematic review to assess the incidence, causes, and treatment of sinusitis after sinus lift surgery. Materials and methods: An electronic search included MEDLINE (PUBMED) data base site was carried out for articles involving development of sinusitis after sinus lift surgery from September 1997 up to April, 8, 2017. The search was done and reviewed by two independent authors. Results: The total results of electronic search were (182) abstracts and articles, the extracted articles which involved develo

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Publication Date
Mon Sep 26 2022
Journal Name
Journal Of Advanced Research In Hr And Organizational Management
Entrepreneurial Performance of the Organization According to the Approved Training Strategy
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The research aims to determine the role of the training strategy with its dimensions of (strategic analysis, formulation of training strategy, implementation of training strategy, evaluation) in the pioneering performance of the organization with its dimensions of (pre-planning , renewal and modernization, efficiency, effectiveness). Important and modern in pioneering performance and training strategy, and in recognition of the importance of the subject and the expected results of the surveyed banks, an analysis was made of the data obtained through field visits in addition to the questionnaire and interviews ,and the most prominent results that were reached were taking the research sample into consideration all the requirements of the trai

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Publication Date
Mon Nov 01 2010
Journal Name
Iraqi Journal Of Physics
Calculation the mass attenuation coefficient of beta-particles through Polyvinyl chloride
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The mass attenuation coefficient for beta particles through pure Polyvinyl chloride (PVC) and flax fibers- reinforced PVC composite were investigated as a function of the absorber thickness and the absorber to source distance. The beta particles mass attenuation coefficients were obtained using a NaI(Tl) energy selective scintillation counter with 90Sr/ 90Y beta source having an energy range from (0.546-2.275) MeV. Pure PVC polymer samples were prepared by compacting the PVC powder in a mould at high pressure (10bar) and temperature about 140°C for 30 minutes. A hot press system was used for this process. The experimentally obtained values of mass attenuation coefficients for 90Sr and 90Y were found to be 7.72 cm2.g-1and 0.842 cm2.g-1 r

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