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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 Apr 27 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Anticancer Activities of Some Heterocyclic Compounds Containing an Oxygen Atom: A Review
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The purpose of this study is to underline the progression and development of research regarding oxygen-containing heterocycles as well as the contribution that some oxygen-containing heterocycles have made as anticancer medicines. A series of publications about the antitumor effects of derivatives of heterocyclic compounds containing an oxygen atom, such as furan, benzofuran, oxazole, benzoxazole, and oxadiazole, were evaluated, and their anticancer activities showed encouraging results when compared to those of established standard treatments.

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Publication Date
Mon Jun 19 2023
Journal Name
Journal Of Engineering
Structural Behavior of Reinforced Concrete Hollow Beams under Partial Uniformly Distributed Load
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A Longitudinal opening is used to construct hollow core beam is a cast in site or precast or pre stressed concrete member with continuous voids provided to reduce weight, cost and, as a side benefit, to use for concealed electrical or mechanical runs. Primarily is used as floor beams or roof deck systems. This study investigate the behavior of six beams (solid or with opening) of dimension (length 1000 x height 180 x width120mm) simply support under partial uniformly distributed load, four of these beam contain long opening of varied section (40x40mm) or (80x40mm). The effect of vertical steel reinforcing, opening size and orientations are investigated to evaluate the response of beams. The experimental behavior based on load-deflection

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Publication Date
Wed Jan 01 2020
Journal Name
Fme Transactions
Development of automated liquid filling system based on the interactive design approach
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The automatic liquid filling system is used in different applications such as production of detergents, liquid soaps, fruit juices, milk products, bottled water, etc. The automatic bottle filling system is highly expensive. Where, the common filling systems required to complex changes in hardware and software in order to modify volume of liquid. There are many important variables in the filling process such as volume of liquid, the filling time, etc. This paper presents a new approach to develop an automatic liquid filling system. The new proposed system consists of a conveyor subsystem, filling stations, and camera to detect the level of the liquid at any instant during the filling process. The camera can detect accurately the leve

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of The College Of Education For Women
The Social Motive Behind the Inclusion of Moses Story Within Andalusi Poetry
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The significance of the social motivation lies in showing the great and important role of the story of the prophet of ( Moser ( Peace upon him) in Quran , especially , it is considered the greatest one in Quran , as that confirmed by the poets of Andalusera ,as it includes aspects similar to that prevailing over in their environments and their social life via the social motivation. Moreover , the relation's poets with the Andalus society where suitability prevailing over consistent with the events of the story; bedsides, artistic expression about the society for being considered as a trust mirror reflect real facts surrounded by the Andalussociety with all its sides and aspects . Thus , the poet takes Quran , especially the story of Mose

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Publication Date
Thu Mar 30 2023
Journal Name
Journal Of Economics And Administrative Sciences
An Artificial Intelligence Algorithm to Optimize the Classification of the Hepatitis Type
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Hepatitis is one of the diseases that has become more developed in recent years in terms of the high number of infections. Hepatitis causes inflammation that destroys liver cells, and it occurs as a result of viruses, bacteria, blood transfusions, and others. There are five types of hepatitis viruses, which are (A, B, C, D, E) according to their severity. The disease varies by type. Accurate and early diagnosis is the best way to prevent disease, as it allows infected people to take preventive steps so that they do not transmit the difference to other people, and diagnosis using artificial intelligence gives an accurate and rapid diagnostic result. Where the analytical method of the data relied on the radial basis network to diagnose the

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Publication Date
Thu Jan 11 2024
Journal Name
Research Square
Exploring the Potential of Terrestrial Isopoda, Porcellionides cingendus, for Assessing Environmental Sustainability
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Abstract<p><bold>Introduction:</bold> Environmental sustainability is crucial for maintaining diverse and productive biological systems. Terrestrial isopods, such as Porcellionides cingendus, are known for their environmentally friendly characteristics and adaptability. This study explores the potential of <italic>P. cingendus</italic> in improving environmental sustainability. <bold>Methods:</bold> Samples of P. cingendus were collected from various locations and reared in controlled environments. Waste consumption efficiency was evaluated by measuring the consumption of various cellulosic wastes over 15 days. Statistical analysis was performed using One-Way ANOVA. <jat></jat></p> ... Show More
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Publication Date
Wed Dec 30 2020
Journal Name
Iraqi Journal Of Science
Specifying Quality of a Tight Oil Reservoir through 3-D Reservoir Modeling
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Increasing hydrocarbon recovery from tight reservoirs is an essential goal of oil industry in the recent years. Building real dynamic simulation models and selecting and designing suitable development strategies for such reservoirs need basically to construct accurate structural static model construction. The uncertainties in building 3-D reservoir models are a real challenge for such micro to nano pore scale structure. Based on data from 24 wells distributed throughout the Sadi tight formation. An application of building a 3-D static model for a tight limestone oil reservoir in Iraq is presented in this study. The most common uncertainties confronted while building the model were illustrated. Such as accurate estimations of cut-off

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Publication Date
Sat Oct 20 2018
Journal Name
Journal Of Economics And Administrative Sciences
Measuring the performance of government units according to the government accounting system
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Abstract

This study aims at clarifying the current performance appraisal system in government units and the extent to which they contribute to the development of the performance of these units by evaluating and measuring the performance of these units on an ongoing basis to subject their services to an assessment and measurement process in order to improve the efficiency of these units to reach their objectives efficiently and effectively. (Iraqi hospitals) by trying to determine the possibility of the government accounting system in the process of evaluating performance, through the comparison of financial performance for successive years and different hospitals using the financial and non-financial model of the evaluati

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Publication Date
Sat Jun 01 2013
Journal Name
Engineering And Technology Journal
Performance Improvement of Multi-UserMC-CDMA system Using Discrete Hartly Transform Mapper
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Future wireless communication systems must be able to accommodate a large number of users and simultaneously to provide the high data rates at the required quality of service. In this paper a method is proposed to perform the N-Discrete Hartley Transform (N-DHT) mapper, which are equivalent to 4-Quadrature Amplitude Modulation (QAM), 16-QAM, 64-QAM, 256-QAM, … etc. in spectral efficiency. The N-DHT mapper is chosen in the Multi Carrier Code Division Multiple Access (MC-CDMA) structure to serve as a data mapper instead of the conventional data mapping techniques like QPSK and QAM schemes. The proposed system is simulated using MATLAB and compared with conventional MC-CDMA for Additive White Gaussian Noise, flat, and multi-path selective fa

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Publication Date
Tue May 01 2018
Journal Name
Journal Of Physics: Conference Series
Producing High Purity of Metal Oxide Nano Structural Using Simple Chemical Method
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