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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
Fri Jun 01 2018
Journal Name
Journal Of Engineering
Compensation of the Nonlinear Power Amplifier by Using SCPWL Predistorter with Genetic Algorithm in OFDM technique
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The High Power Amplifiers (HPAs), which are used in wireless communication, are distinctly characterized by nonlinear properties. The linearity of the HPA can be accomplished by retreating an HPA to put it in a linear region on account of power performance loss. Meanwhile the Orthogonal Frequency Division Multiplex signal is very rough. Therefore, it will be required a large undo to the linear action area that leads to a vital loss in power efficiency. Thereby, back-off is not a positive solution. A Simplicial Canonical Piecewise-Linear (SCPWL) model based digital predistorters are widely employed to compensating the nonlinear distortion that introduced by a HPA component in OFDM technology. In this paper, the genetic al

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Publication Date
Tue Sep 01 2020
Journal Name
Baghdad Science Journal
Diversity and Geographical Distribution of Sand Flies Phlebotomus papatasi (Diptera: Phlebotominae) by using Geometric Morphometric Technique from two Iraqi Provinces
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            The variation in wing morphological features was investigated using geometric morphometric technique of the Sand Fly from two Iraqi provinces Babylon and Diyala . We distributed eleven landmarks on the wings of Sand Fly species. By using the centroid size and shape together, all species were clearly distinguished.  It is clear from these results that the wing analysis is an essential method for future geometric morphometry studies to distinguish the species of Sand Flies in Iraq.

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Publication Date
Wed Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Sex Variations by Linear Measurements of Palatal Bones and Skull Base Using 3D Reconstructed Computed Tomographic Scan among Iraqi Sample
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Background: The skull base and the hard palate contain many anatomical features that make them rich in information which are useful in sex differentiation; in addition to that they have the ability to resist the hardest environmental conditions that support them in making sex differentiation. Three dimensional computed tomographic techniques has important role in differentiation between sex since it offers images with very accurate data and details of all anatomical structures with high resolution. This study was made to study sex variations among Iraqi sample by craniometric linear measurements of the hard palate and the skull base using 3D reconstructed Computed Tomographic scan. Materials and methods: This study composed of 100 Iraqi su

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Publication Date
Wed Aug 30 2023
Journal Name
Al-kindy College Medical Journal
Viable Strategies to Increase Clinical Trial Patient Diversity
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In the United States, the pharmaceutical industry is actively devising strategies to improve the diversity of clinical trial participants. These efforts stem from a plethora of evidence indicating that various ethnic groups respond differently to a given treatment. Thus, increasing the diversity of trial participants would not only provide more robust and representative trial data but also lead to safer and more effective therapies. Further diversifying trial participants appear straightforward, but it is a complex process requiring feedback from multiple stakeholders such as pharmaceutical sponsors, regulators, community leaders, and research sites. Therefore, the objective of this paper is to describe three viable strategies that can p

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Publication Date
Mon May 11 2020
Journal Name
Baghdad Science Journal
DEO: A Dynamic Event Order Strategy for t-way Sequence Covering Array Test Data Generation
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Sequence covering array (SCA) generation is an active research area in recent years. Unlike the sequence-less covering arrays (CA), the order of sequence varies in the test case generation process. This paper reviews the state-of-the-art of the SCA strategies, earlier works reported that finding a minimal size of a test suite is considered as an NP-Hard problem. In addition, most of the existing strategies for SCA generation have a high order of complexity due to the generation of all combinatorial interactions by adopting one-test-at-a-time fashion. Reducing the complexity by adopting one-parameter- at-a-time for SCA generation is a challenging process. In addition, this reduction facilitates the supporting for a higher strength of

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Publication Date
Mon May 11 2020
Journal Name
Baghdad Science Journal
DEO: A Dynamic Event Order Strategy for t-way Sequence Covering Array Test Data Generation
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Sequence covering array (SCA) generation is an active research area in recent years. Unlike the sequence-less covering arrays (CA), the order of sequence varies in the test case generation process. This paper reviews the state-of-the-art of the SCA strategies, earlier works reported that finding a minimal size of a test suite is considered as an NP-Hard problem. In addition, most of the existing strategies for SCA generation have a high order of complexity due to the generation of all combinatorial interactions by adopting one-test-at-a-time fashion. Reducing the complexity by adopting one-parameter- at-a-time for SCA generation is a challenging process. In addition, this reduction facilitates the supporting for a higher strength of cove

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Publication Date
Sat Jan 13 2018
Journal Name
Journal Of Engineering
Statistical Analysis of Mortality and Morbidity Due to Traffic Accidents in Iraq
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Undoubtedly, Road Traffic Accidents (RTAs) are a major dilemma in term of mortality and morbidity facing the road users as well as the traffic and road authorities. Since 2002, the population in Iraq has increased by 49 percent and the number of vehicles by three folds. Consequently, these increases were unfortunately combined with rising the RTAs number, mortality and morbidity. Alongside the humanitarian tragedies, every year, there are considerable economic losses in Iraq lost due to the epidemic of RTAs. Given the necessity of understanding the contributory factors related to RTAs for the implementation by traffic and road authorities to improve the road safety, the necessity have been a rise for this research which focuses into

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Publication Date
Wed Dec 15 2021
Journal Name
Al-adab Journal
A Feminist Rhetorical Analysis of Anti-feminist Poetry in English and Arabic
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Publication Date
Wed Jun 01 2022
Journal Name
Journal Of The College Of Languages (jcl)
A Feminist Stylistic Analysis of Anti-feminist Poetry in English and Arabic
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Language plays a major role in all aspects of life. Communication is regarded as the most important of these aspects, as language is used on a daily basis by humanity either in written or spoken forms. Language is also regarded as the main factor of exchanging peoples’ cultures and traditions and in handing down these attributes from generation to generation. Thus, language is a fundamental element in identifying peoples’ ideologies and traditions in the past and the present. Despite these facts, the feminist linguists have objections to some of the language structures, demonstrating that language is gender biased to men. That is, language promotes patriarchal values. This pushed towards developing extensive studies to substantiate s

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Publication Date
Fri Sep 24 2021
Journal Name
Arab World English Journal
A Pragma- Stylistic Analysis of Formal Congratulatory Letters in English and Arabic
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Politeness strategies are of significant importance to maintain the face of the addressee. Senders of formal congratulatory letters seek to create a positive image in the minds of their addresses by performing particular illocutionary acts and face-saving acts (FSAs) in the form of written texts. To the best knowledge of the researcher, this topic received little attention from linguistic researchers, especially on the pragma-stylistic level. The importance of this study arises from the fact that congratulatory formal letters are an effective tool in the successful performance of foreign relations and thus deserve investigation. The current study investigates the pragmastylistic aspects of illocutionary acts and FSA Politeness Stra

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