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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 May 01 2018
Journal Name
Journal Of Physics: Conference Series
Practical Study for the Properties of Hueckel Edge Detection Operator
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Publication Date
Mon Feb 04 2019
Journal Name
Iraqi Journal Of Physics
Diagnostics of low-pressure capacitively coupled RF discharge argon plasma
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Low-pressure capacitively coupled RF discharge Ar plasma has been studied using Langmuir probe. The electron temperature, electron density and Debay length were calculated under different pressures and electrode gap. In this work the RF Langmuir probe is designed using 4MHz filter as compensation circuit and I-V probe characteristic have been investigated. The pressure varied from 0.07 mbar to 0.1 mbar while electrode gap varied from 2-5 cm. The plasma was generated using power supply at 4MHz frequency with power 300 W. The flowmeter is used to control Argon gas flow in the range of 600 standard cubic centimeters per minute (sccm). The electron temperature drops slowly with pressure and it's gradually decreased when expanding the electro

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Publication Date
Mon Oct 01 2012
Journal Name
Iraqi Journal Of Physics
The antibacterial effect of silver nanoparticles on some bacterial pathogens
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Nanoparticles are a special group of materials with unique features and extensive applications in diverse fields. The use of nanoparticles of some metals is a viable solution to stop infectious diseases due to the antimicrobial properties of these nanoparticles. The present work demonstrates the effect of silver nanoparticles (AgNPs) on the antibacterial activity of four different antibiotics (amoxicillin, ceftriaxone, chloramphenicol, and penicillin) against eleven Gram-positive and Gram-negative isolates. Disk diffusion method was used to determine the antibacterial activity of various classes of antibiotics in the absence and presence of sub-inhibitory silver nanoparticles of concentration (80 microgram/ml). A synergistic effect was o

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Publication Date
Wed Jun 11 2003
Journal Name
Iraqi Journal Of Laser
Q- Switched Nd:YAG Laser Annealing of Phosphorus Diffused Silicon Photodiodes
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Improvement of optoelectrical characteristics of phosphorus diffused silicon photodiodes by Q-switched Nd:YAG laser pulses was investigated. Laser pulses have dissolved the precipitation of phosphorus resulted during thermal diffusion process. The experimental data show that responsivity higher than (0.32 A/W) at 850 nm can be achieved after laser annealing with (1.5 MW/cm2) for 6 shots.

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Publication Date
Tue Sep 15 2020
Journal Name
Al-academy
Impact of Cranbrook on Graphic Design: راقي صباح نجم الدين
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  Empirical research in the disciplines of art and design has started to escalate and gather consideration within the academic community over the past few decades. However, still, graphic design tends to be a topic extremely under-researched by scholarly persons. Profound research in the field of graphic design extends far beyond the works produced by the designer himself (Khoury, 2009, p.844). In order to develop a clear insight, one needs to delve deep into the subcategories that the diverse field of graphic design is comprised of, including illustration, typography, interaction design, branding and even the impact of notable, eminent institutes from around the world that have taken the budding artists for quite a long time (Walke

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Publication Date
Sun Mar 02 2014
Journal Name
Baghdad Science Journal
Exploiting the diazotization reaction of 4- minoacetophenone for Methyldopa determination.
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Based on the diazotization reaction of 4-aminoacetophenone with sodium nitrite in acid medium to form diazonium salt, which was coupled with Methyldopa to form a violet reddish soluble azo dye with maximum absorbance at 560 nm,a batch procedure had been developed for the estamination of Methyldopa. Under optimum experimental parameters affecting on the development and stability of the colored product, Beer´s law obeyed in the range (0.5-45) ?g.ml-1 with a correlation coefficient (0.9979).The proposed method was successfully applied to the determination of Methyldopa in either pure form and in commercial brands of pharmaceuticals, no interference was observed from common excipients in the formulations. The analytical results obtained by app

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Publication Date
Sun Jan 10 2016
Journal Name
British Journal Of Applied Science & Technology
The Effect of Classification Methods on Facial Emotion Recognition ‎Accuracy
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The interests toward developing accurate automatic face emotion recognition methodologies are growing vastly, and it is still one of an ever growing research field in the region of computer vision, artificial intelligent and automation. However, there is a challenge to build an automated system which equals human ability to recognize facial emotion because of the lack of an effective facial feature descriptor and the difficulty of choosing proper classification method. In this paper, a geometric based feature vector has been proposed. For the classification purpose, three different types of classification methods are tested: statistical, artificial neural network (NN) and Support Vector Machine (SVM). A modified K-Means clustering algorithm

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Publication Date
Sat Apr 01 2017
Journal Name
Al–bahith Al–a'alami
The Bahraini Daily Press Coverage of Women Issues): (Analytical Study
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This research is an attempt to assess the extent of coverage given by the Bahrain daily press to Women and related issues. It attempts to determine how important the issues of the Women issues were covered in the Daily Press and whether the press has given enough attention to the Women issues.
The research was conducted by analyzing the coverage “AkhbarAlKhaleej” Daily newspaper gave the Women issues during the period of this study.
Thus, this study aims at assessing the degree to which the Bahraini daily newspapers have dealt with the Women issues. The researcher analyzed the contents of the Bahraini press, “AKHBAR ALKHALEEJ” daily newspaper during 2014, as Bahraini press coverage seems to be stable, and more balanced and

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Publication Date
Sun Feb 01 2015
Journal Name
Journal Of Engineering
Design a Multi-Choice Fuzzy Control System of the Greenhouse
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Applications of nonlinear, time variant, and variable parameters represent a big challenge in a conventional control systems, the control strategy of the fuzzy systems may be represents a simple, a robust and an intelligent solution for such applications.

This paper presents a design of fuzzy control system that consists of three sub controllers; a fuzzy temperature controller (FC_T), a fuzzy humidity controller (FC_H) and a ventilation control system; to control the complicate environment of the greenhouse (GH) using a proposed multi-choice control system approach. However, to reduce the cost of the crop production in the GH, the first choice is using the ventilation system to control the temperature and humidit

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Publication Date
Sun Sep 30 2012
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
The Control of Non Isothermal CSTR Using Different Controller Strategies
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In all process industries, the process variables like flow, pressure, level, concentration
and temperature are the main parameters that need to be controlled in both set point
and load changes.
A control system of propylene glycol production in a non isothermal (CSTR) was
developed in this work where the dynamic and control system based on basic mass
and energy balance were carried out.
Inlet concentration and temperature are the two disturbances, while the inlet
volumetric flow rate and the coolant temperature are the two manipulations. The
objective is to maintain constant temperature and concentration within the CSTR.
A dynamic model for non isothermal CSTR is described by a first order plus dead
time (FO

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