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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 Jun 05 2011
Journal Name
Baghdad Science Journal
Synthesized azodyes of 2-amino-1, 3, 4- thiadiazole - 5 - thiol
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Several azo dyes were synthesized through coupling reaetion of some substituted phenols and B.naphthol with diazonium salt of 2- amino-1,3-4- thiadiazol -5- thiol. All the synthesized compounds during this work were characterized using some speetral data (F.TIRand UV)andM.P . 2-[4 --Hydroxy napthyl-azo ] -1,3,4-Thiadiazol -5-Thiol • 2- [2-- hydroxy –4- NO2 – phenyl- azo]- 1,3,4 - Thiadiazol –5-Thiol. • 2- [3--Amino-4-Hydroxy phenyl –azo]-1,3,4 - Thiadiazol –5-Thiol. . • 2-[2--Amino-4-Hydroxy phenyl -azo]-1,3,4 - Thiadiazol –5-Thiol . • 2- [3--Amino-6- Hydroxy phenyl -azo]-1,3,4 - Thiadiazol –5-Thiol. • 2-[2-- Hydroxy- 5 – chloro – Pheny - azo]- 1,3,4 - Thiadiazol –5-Thiol . • 2- [4-- Hydroxy phenyl -azo] -1,

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Publication Date
Sun Jun 28 2026
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of inhaled corticosteroid on condition oral among asthmatic children
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Background: Inhalation therapy has been employed as the mainstay of the treatment in chronic respiratory diseases such as asthma, Patients who taking asthma medication may be at risk of many health problems including oral health .The purpose of this study was to assess the local effect of ICS on oral tissue by measuring Candida albicans count colonies in saliva among12 years old asthmatic children who were collected from AL- Zahra Center Advisory for Allergy and Asthma, and compares them with non asthmatic children of the same age and gender. Material and Methods: The total sample involved sixty children of 12 years old, thirty asthmatic children who received medium dose of ICS/day (200-400 microgram/day) for 2 years and 30 non-asthmatic ch

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Publication Date
Wed Jul 01 2020
Journal Name
Iop Conf. Series: Materials Science And Engineering
Numerical Study of Specially Shaped Slender RC Columns under Compressive Load
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Abstract<p>In most Reinforced Concrete (RC) buildings, the cross-section size of rectangular columns that conventionally used in these structures is larger than the thickness of their partitions. Consequently, a part of the column is protruded out of the wall which has some architectural disadvantages. Reducing the column size by using high strength concrete will result in slender column, thus the stability problem may be occurred. The stability problem is difficult to be overcome with rectangular columns. This paper study the effectiveness of using new types of columns called Specially Shaped Reinforced Concrete (SSRC) columns. Besides, the use of SSRC columns provides many structural advantage</p> ... Show More
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Publication Date
Wed Feb 01 2023
Journal Name
International Journal Of Revolution In Science And Humanity
Nonparametric Estimation of Failure Periods for Log Normal Distribution Using Bootstra
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A non-parametric kernel method with Bootstrap technology was used to estimate the confidence intervals of the system failure function of the log-normal distribution trace data. These are the times of failure of the machines of the spinning department of the weaving company in Wasit Governorate. Estimating the failure function in a parametric way represented by the method of the maximum likelihood estimator (MLE). The comparison between the parametric and non-parametric methods was done by using the average of Squares Error (MES) criterion. It has been noted the efficiency of the nonparametric methods based on Bootstrap compared to the parametric method. It was also noted that the curve estimation is more realistic and appropriate for the re

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Publication Date
Tue Jan 08 2019
Journal Name
Iraqi Journal Of Physics
First principles calculations of Al AsxP1-x ternary nanocrystal alloying composition
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III-V zinc-blende AlP, AlAs semiconductors and their alloy Aluminum Arsenide phosphide Al AsxP1-x ternary nanocrystals have been investigated using Ab- initio density functional theory (Ab-initio-DFT) at the generalized-gradient approximation (GGA) level with STO-3G basis set coupled with large unit cell method (LUC). The dimension of crystal is found around (1.56 – 2.24) nm at a function of increasing the sizes (8, 16, 54, 64) with different concentration of arsenide (x=0, 0.25, 0.5, 0.75 and 1) respectively. Gaussian 03 code program has been used throughout this study to calculate some of the physical properties such as the electronic properties energy gap, lattice constant, valence and conduction band as well as density of state. Re

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Publication Date
Mon Sep 30 2013
Journal Name
International Journal Of Network Security &amp; Its Applications
Evaluating the Performance of the Secure Block Permutation Image Steganography Algorithm
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Recently, a new secure steganography algorithm has been proposed, namely, the secure Block Permutation Image Steganography (BPIS) algorithm. The new algorithm consists of five main steps, these are: convert the secret message to a binary sequence, divide the binary sequence into blocks, permute each block using a key-based randomly generated permutation, concatenate the permuted blocks forming a permuted binary sequence, and then utilize a plane-based Least-Significant-Bit (LSB) approach to embed the permuted binary sequence into BMP image file format. The performance of algorithm was given a preliminary evaluation through estimating the PSNR (Peak Signal-to-Noise Ratio) of the stego image for limited number of experiments comprised hiding

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Publication Date
Wed Nov 02 2011
Journal Name
Journal Of Engineering
Implementation of Gypseous Soil-asphalt Stabilization Technique for Base Course Construction
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The aim of this research work is to study the effect of stabilizing gypseous soil, which covers vast areas in the middle, west and south parts of Iraq, using liquid asphalt on its strength properties to be used as a base course layer replacing the traditional materials of coarse aggregate and broken stones which are scarce at economical prices and hauling distances. Gypseous soil brought from Al-Ramadi City, west of Iraq, with gypsum content of 66.65%, medium curing cutback asphalt (MC-30), and hydrated lime are used in this study. The conducted tests on untreated and treated gypseous soil with different percentages of medium curing cutback asphalt (MC-30), water, and lime were: unconfined compression strength, and one dimensional confine

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Publication Date
Sat Feb 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
A comparison of the Semiparametric Estimators model smoothing methods different using
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In this paper, we made comparison among different parametric ,nonparametric and semiparametric estimators for partial linear regression model users parametric represented by ols and nonparametric methods represented by cubic smoothing spline estimator and Nadaraya-Watson estimator, we study three nonparametric regression models and samples sizes  n=40,60,100,variances used σ2=0.5,1,1.5 the results  for the first model show that N.W estimator for partial linear regression model(PLM) is the best followed the cubic smoothing spline estimator for (PLM),and the results of the second and the third model show that the best estimator is C.S.S.followed by N.W estimator for (PLM) ,the

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Publication Date
Mon Jun 01 2015
Journal Name
Journal Of Engineering
Construction of Graduation Certificate Issuing System Based on Digital Signature Technique
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With the development of computer architecture and its technologies in recent years, applications like e-commerce, e-government, e-governance and e-finance are widely used, and they act as active research areas. In addition, in order to increase the quality and quantity of the ordinary everyday transactions, it is desired to migrate from the paper-based environment to a digital-based computerized environment. Such migration increases efficiency, saves time, eliminates paperwork, increases safety and reduces the cost in an organization. Digital signatures are playing an essential role in many electronic and automatic based systems and facilitate this migration. The digital signatures are used to provide many services and s

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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Disney’s Girls: The Development of Persona from Snow White to Pocahontas
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Through his female characters, Walt Disney was able to reflect the
development of the general outlook upon women in the Western world over a period
of sixty years.
This paper sheds light in how the cartoon characters changed in their reaction
to problems and means of solving them from the 30s through to the 90s of the
previous century. The main characters will be seen according to the films’ dates of
production and release.

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