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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 Sep 08 2016
Journal Name
Telecommunication Systems
Design and simulation analysis of network-based fully distributed mobility management in flattened network architecture
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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of Engineering
Heat Transfer Analysis of Conventional Round Tube and Microchannel Condensers in Automotive Air Conditioning System
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In this paper, an experimental analysis of conventional air-cooled and microchannel condensers in automotive vapor compression refrigeration cycle concerning heat transfer coefficient and energy using R134a as a refrigerant was presented. The performance of two condensers and cycles tested regarding ambient temperature which it was varied from 40oC to 65oC, while the indoor temperature and load have been set to be 23oC and 2200 W respectively. Results showed that the microchannel condenser has 224 % and 77 % higher refrigerant side and air side heat transfer coefficient respectively than the coefficients of the conventional condenser. Thus, the COP, in case of using the microchannel

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Publication Date
Wed Dec 31 2025
Journal Name
Вестник Санкт-Петербургского университета. Востоковедение и африканистика
Female Images in the Poetry of Valery Bryusov and Badr Shakir al-Sayab (Comparative Analysis)
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Throughout the development of the history of literature, both Russian and world, the image of a woman has always occupied a significant position in the works of authors. This article presents an analysis of the images of women in the poetry of Valery Bryusov and Badr Shakir Al-Sayyab. The image of a woman has always been glorified, from ancient times to modern works of art. The article examines which images of women are presented in the lyrical works of the authors. To address this issue, we focused on the images of symbolism presented in the descriptions of women from different cultures — Russian and Iraqi. Also presented are images of the “traditional” woman in the cultural and historical era in which the authors in question publish

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Publication Date
Thu Mar 14 2019
Journal Name
Al-khwarizmi Engineering Journal
Creeping Gait Analysis and Simulation of a Quadruped Robot
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A quadruped (four-legged) robot locomotion has the potential ability for using in different applications such as walking over soft and rough terrains and to grantee the mobility and flexibility. In general, quadruped robots have three main periodic gaits:  creeping gait, running gait and galloping gait. The main problem of the quadruped robot during walking is the needing to be statically stable for slow gaits such as creeping gait. The statically stable walking as a condition depends on the stability margins that calculated particularly for this gait. In this paper, the creeping gait sequence analysis of each leg step during the swing and fixed phases has been carried out. The calculation of the minimum stability margins depends up

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Publication Date
Thu Jan 01 2009
Journal Name
Bayt Alhekma
COMPARATIVE ANALYSIS OF RUSSIAN AND ARABIC PHRASEOLOGICAL UNITS (TURNS)
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Abstract The study aimed at reviewing translation theories proposed to address problems in translation studies. To the end, translation theories and their applications were reviewed in different studies with a focus on issues such as critical discourse analysis, cultural specific items and collocation translation.

Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Harold pinter and Iraq: An analysis of war(2003)
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Publication Date
Sun Sep 06 2009
Journal Name
Baghdad Science Journal
Study and Analysis the Mathematical Operations of Fuzzy Logic
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The last decade of this 20th century provides a wide spread of applications of one of the computer techniques, which is called Fuzzy Logic. This technique depends mainly on the fuzzy set theory, which is considered as a general domain with respect to the conventional set theory. This paper presents in initiative the fuzzy sets theory and fuzzy logic as a complete mathematics system. Here it was explained the concept of fuzzy set and defined the operations of fuzzy logic. It contains eleven operations beside the other operations which related to fuzzy algebra. Such search is considered as an enhancement for supporting the others waiting search activities in this field.

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Publication Date
Wed Aug 28 2024
Journal Name
Mathematical Modelling Of Engineering Problems
Structural and Stress Analysis of NACA0012 Wing Using SolidWorks
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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
FINITE ELEMENT ANALYSIS OF HUMAN AND ARTIFICIAL ARTICULAR CARTILAGE
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Joint diseases, such as osteoarthritis, induce pain and loss of mobility to millions of people around the world. Current clinical methods for the diagnosis of osteoarthritis include X-ray, magnetic resonance imaging, and arthroscopy. These methods may be insensitive to the earliest signs of osteoarthritis. This study investigates a new procedure that was developed and validated numerically for use in the evaluation of cartilage quality. This finite element model of the human articular cartilage could be helpful in providing insight into mechanisms of injury, effects of treatment, and the role of mechanical factors in degenerative
conditions, this three-dimensional finite element model is a useful tool for understanding of the stress d

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Publication Date
Fri Jul 21 2023
Journal Name
Journal Of Engineering
EXPERIMENTAL AND NUMERICAL STRESS ANALYSIS OF INVOLUTE SPLINED SHAFT
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In this study, the induced splined shaft teeth contact and bending stresses have been investigated numerically using finite element method(Ansys package version 11.0) with changing the most effecting design parameter,(pressure angle, teeth number, fillet radius and normal module), for internal and external splined shaft. Experimental work has been achieved using two dimensional photoelastic techniques to get the contact and bending stresses; the used material is Bakelite sheet type “PSM-4”.
The results of numerical stress analysis indicate that, the increasing of the pressure angle and fillet radius decrease the bending stress and increase the contact stress for both internal and external spline shaft teeth while the increasing of

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