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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
Sat Nov 10 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Clinical Learning and Training Environment for Maternal and Child Health Nursing Students
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Objective: To assess the clinical learning environment and clinical training for students' in maternal and child
health nursing.
Methodology: A descriptive study was conducted on non probability sample (purposive) of (175) students' in
Nursing College/ University of Baghdad for the period of June 19th to July 18th 2013. A questionnaire was used as a
tool of data collection to fulfill with objective of the study and consisted of three parts, including demographic,
clinical learning environment and clinical training for students' in maternal and child health nursing. Descriptive
statistical analyses were used to analyze the data.
Results: The results of the study revealed that the 65.1% of student at age which ranged b

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Publication Date
Sat Jun 30 2012
Journal Name
Al-kindy College Medical Journal
The Effect of Leptin Level in Pregnancy Complicated by Intrauterine Growth Restriction on Neonatal Outcome, in an Iraqi Center
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Background: Fifteen percent of small for gestational age are small as a result of fetal growth restriction, which could be due to maternal, placental or fetal factors. It is an important clinical problem associated with increase perinatal mortality and morbidity. Leptin is a protein that produced by many tissues including the placenta (syncytiotropholoast). Dysregulation of leptin metabolism may be implicated in preeclampsia and IUGR pathogenesis.
Aim of the study: To study the trend of leptin level alteration in maternal serum and cord blood in pregnancies complicated by fetal growth restriction and its relation with fetal outcome.
Methods: An Analytic, cross- sectional study conducted in Al-Elwyia Maternity Teaching Hospital and

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Publication Date
Fri Jul 27 2012
Journal Name
Journal Of Prosthodontics
A Three-Dimensional Finite Element Analysis for Overdenture Attachments Supported by Teeth and/or Mini Dental Implants
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Publication Date
Fri Apr 01 2022
Journal Name
Neuroquantology
Application the Halder – Wagner to Calculation Crystal Size and Micro Strain by X-ray Diffraction Peaks Analysis
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This study refers to the development and characterization of silver oxide nanoparticles obtained by X-ray diffraction, nanostructured silver oxide was used in order to calculate the micro strain and crystal size by Halder-Wagner method and by relying on X-ray diffraction diagram of the nonstructural silver oxide, where the results of the crystal size and the micro-strain were 4nm and 0.33 respectively. Other analysis techniques, such as the Size-strain plot, The X-ray diffraction study confirmed that the crystalline nature of silver oxide nanoparticles has a cubic structure. Through the X-ray diffraction results, the crystal size was calculated using Debye-Scherrer and Williamson-Hall methods. Halder-Wagner (HW), Size-strain plot, D

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Publication Date
Mon Mar 11 2019
Journal Name
Baghdad Science Journal
Analysing Iraqi Railways Network by Applying Specific Criteria Using the GIS Techniques
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The railways network is one of the huge infrastructure projects. Therefore, dealing with these projects such as analyzing and developing should be done using appropriate tools, i.e. GIS tools. Because, traditional methods will consume resources, time, money and the results maybe not accurate. In this research, the train stations in all of Iraq’s provinces were studied and analyzed using network analysis, which is one of the most powerful techniques within GIS. A free trial copy of ArcGIS®10.2 software was used in this research in order to achieve the aim of this study. The analysis of current train stations has been done depending on the road network, because people used roads to reach those train stations. The data layers for this st

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Publication Date
Wed Jul 01 2020
Journal Name
Medico-legal Update
Evaluation of technical quality and procedural errors of root canal treatment performed by undergraduate and postgraduate dental students: A retrospective radiographic analysis
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Publication Date
Sat Apr 01 2023
Journal Name
Baghdad Science Journal
Correlation Expression between P52 and BCL2 among Iraqi Women with Breast Carcinoma
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Publication Date
Sat Jun 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
The Use of One-Way Multivariate Analysis of Variance in the Impact of the Database on the Fields of Banking Service in Some Iraqi Banks
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 The purpose of this paper is to recognize the impact of database levels on fields of banking service (provision of remittance services and transfer of funds, save financial deposits, provision of personal loans services) in some of Iraqi banks using one-way multivariate analysis of variance. The paper population consisted of (120) employees, then a random stratified sample of (104) employees was taken. A questionnaire paper consists of (24) items were designed in order to analyze by one-Way multivariate analysis of variance (MANOVA) using SPSS.One of the main findings of the current paper is that there is an impact of database on fields of banking service in Iraqi banks (Al Rafidain and Al Rasheed).

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Publication Date
Tue Jul 01 2025
Journal Name
Iraqi Journal Of Scientific And Industrial Research
Surface Morphology and Elemental Analysis of Al2O3 Thin Films Prepared by DC Reactive Sputtering Technique Using Different Gas Mixtures
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In this study, Al2O3 thin films were prepared by dc reactive sputtering technique using different gas mixtures of argon and oxygen gases (90:10, 70:30, 50:50, 30:70, and 10:90). These films were characterized to introduce their surface morphology and elemental composition as functions of the oxygen content in the gas mixture. The gas mixing ratio plays a crucial role in controlling the nanoscale morphology of the prepared thin films. The [Al]/[O] ratio varies non-linearly with the Ar:O2​ mixing ratio. Increasing the oxygen content leads to a progressive decrease in surface roughness, resulting in smoother and more uniform films with finer granular features. These results presented herein are useful to optimize the sputtering process to ac

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Publication Date
Thu Dec 01 2022
Journal Name
Civil And Environmental Engineering
Enhancing the Structural Analysis of Rc Piled - Raft Foundation by Actual Behaviour of Supporting Piles
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Abstract<p>This paper presents a numerical analysis of the piled-raft foundation (PRF) based on the actual behavior of supporting piles. The raft was modeled as a thin plate, while the piles were modeled as springs in different ways. This research also aims to propose an analytical model of piles based on actual behavior at fieldwork. The results proved that the structural behavior of raft member can be improved through utilizing the actual behavior of supporting piles. When the piles were modeled as non-linear stiffness springs, settlements and bending stresses of raft foundation were reduce marginally as compared with those obtained from piles with linear stiffness springs.</p>
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