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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
Wed Dec 27 2023
Journal Name
Biomed Research International
Efficacy of Autogenous Dentin Biomaterial on Alveolar Ridge Preservation: A Randomized Controlled Clinical Trial
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Background. After tooth extraction, alveolar bone resorption is inevitable. This clinical phenomenon challenges dental surgeons aiming to restore esthetic and function. Alveolar ridge preservation can be applied to minimize dimensional changes with a new socket grafting material, an autogenous dentin graft, produced by mechanically and chemically processing natural teeth. This study assessed the safety and efficacy of using autogenous dentin biomaterial in alveolar ridge preservation. Materials and Methods. Patients with nonrestorable maxillary anterior teeth bounded by natural sound teeth were included in this study. After a detailed clinical and tomographic examination, eligible participants were randomly allocated into two groups

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Publication Date
Fri May 01 2020
Journal Name
Journal Of Engineering
Numerical investigation on heat transfer enhancement and turbulent flow characteristics in a high aspect ratio rectangular duct roughened by intersecting ribs with inclined ribs
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In this study, the effect of intersecting ribs with inclined ribs on the heat transfer and flow characteristics of a high aspect ratio duct has been numerically investigated. The Relative roughness pitch (P/e) is 10 and the Reynolds number range from 35,700 to 72,800. ANSYS (Fluent-Workbench 18.0) software has been utilized to solve the Reynolds averaged Navier-Stokes (RANS) equations with the Standard k-ε turbulence model. Three ribbed models have been used in this study. Model 1 which is a just inclined ribs, Model 2 which has a single longitudinal rib at the center with inclined ribs and Model 3 which has two longitudinal ribs at the sides. The results showed that the heat transfer rate has been enhanced when the int

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Publication Date
Mon Jan 01 2018
Journal Name
Applied Science Reports
Facial Acne Therapy by Using Pumpkin Seed Oil with Its Physicochemical Properties
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The herbal remedy individually or in combination with standard medicines has been used in diverse medical treatises for the cure of different diseases. Pumpkin seed oil is one of the recognized edible oil and has substantial medicinal properties due to the presence of unique natural edible substances. Inflammation is an adaptive response that is triggered by noxious stimuli and conditions, which involves interactions amongst many cell types and mediators, and underlies many pathological processes. Unsaturated fatty acids (UFAs) can influence inflammation through a variety of mechanisms, and have been indicated as alternative anti-inflammatory agents to treat several inflammatory skin disorders. Pumpkin seed oil is rich in (UFAs), that its t

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Publication Date
Mon Jun 27 2022
Journal Name
Polymers In Medicine
Coating indwelling urinary catheters with moxifloxacin prevents biofilm formation by Burkholderia cepacia
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BACKGROUND: Burkholderia cepacia adhesion and biofilm formation onto abiotic surfaces is an important feature of clinically relevant isolates. The in vitro biofilm formation of B. cepacia onto coated indwelling urinary catheters (IDCs) with moxifloxacin has not been previously investigated. OBJECTIVES: To examine the ability of B. cepacia to form biofilms on IDCs and the effect of coating IDCs with moxifloxacin on biofilm formation by B. cepacia in vitro. MATERIAL AND METHODS: The adhesion of B. cepacia to coated and uncoated IDCs with moxifloxacin was evaluated. Pieces of IDCs were coated with moxifloxacin (adsorption method). The spectrophotometric method was used to check moxifloxacin leaching into tubes. Coated and uncoated tubes were i

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Economics And Administrative Sciences
Fuzzy aggregate production planning by using fuzzy Goal programming with practical application
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Research summarized in applying the model  of fuzzy goal programming for aggregate production planning , in General Company for hydraulic industries / plastic factory to get an optimal production plan  trying to cope with the impact that fluctuations in demand and  employs all available resources using two strategies where they are available   inventories  strategy and  the strategy of  change in the level of the workforce, these   strategies  costs are usually imprecise/fuzzy. The plant administration trying to minimize total production costs, minimize carrying costs and minimize changes in labour levels. depending on the gained data from th

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Publication Date
Wed Apr 01 2015
Journal Name
Al–bahith Al–a'alami
Manifestations of Media Incitement to Violence in Iraqi Satellite Channels- Out of the Iraqi Media's View.
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representing the media and communication problems and phenomena fertile material and of great importance in the media research, especially as they relate to various aspects of life and its impact on the culture of the community and on individuals and public opinion about the behavior of the various issues. The media incitement to violence and hatred of the most prominent media phenomena that increased the danger and expanded not at the local level, but also in the world. So we found it is important to study this problem from the standpoint of academic and professional. And according to the progress of this research is trying to answer a number of questions including:
A. What are the Iraqi Satellite TV channels most watched and follow

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Publication Date
Fri Nov 10 2017
Journal Name
Al–bahith Al–a'alami
Role of the Iraqi Media Organizations in Promoting The Sense of Citizenship among Iraqi University Youth
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    This study examines the role played by the Iraqi media in promoting the values ​​of citizenship and the dimensions of the various sectors of Iraqi society, an important segment namely university youth section.
 The study intended to identify “the role of the Iraqi media organizations in promoting The sense of citizenship among young Iraqi university”, through: -
1. Identifying the most important Iraqi media, which works to promote the dimensions of citizenship and values.
2. To identify the extent of the contribution of the Iraqi media in promoting citizenship in dimensions (patriotic belonging, legal, political, economic, social, cultural).
The study provided a set of hypotheses, namely:-

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Publication Date
Tue Feb 02 2016
Journal Name
International Journal Of Computer Science And Mobile Computing
Increasing Security in Steganography by Combining LSB and PRGN
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With the increasing rate of unauthorized access and attacks, security of confidential data is of utmost importance. While Cryptography only encrypts the data, but as the communication takes place in presence of third parties, so the encrypted text can be decrypted and can easily be destroyed. Steganography, on the other hand, hides the confidential data in some cover source such that the existence of the data is also hidden which do not arouse suspicion regarding the communication taking place between two parties. This paper presents to provide the transfer of secret data embedded into master file (cover-image) to obtain new image (stego-image), which is practically indistinguishable from the original image, so that other than the indeed us

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Publication Date
Thu Jul 01 2021
Journal Name
Plant Archives
SERUM LEVEL AND GENOTYPING OF CCL5 IN A SAMPLE OF IRAQI PULMONARY TUBERCULOSIS PATIENTS
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Cysteine-cysteine chemokine ligand 5 (CCL5) is known to play an important role with immunoregulatory and inflammatory activities in the formation of granuloma during infection with Mycobacterium tuberculosis. About 90 subjects, involving 50 patients with pulmonary TB and 40 apparently healthy individuals (as a control group) were collected from primary health care center\AL-Sadur city sector/ Baghdad City/ Iraq, and at specialized chest and respiratory diseases center in Wassit City /Iraq during the period from January 2019 to May 2019. The study was carried out to investigate serum level of CCL-5 of both patients and control by using enzyme linked immunosorbent assay (ELISA), and to determine the association between CCL5 genotypes with pul

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Publication Date
Wed Jul 01 2026
Journal Name
Al–bahith Al–a'alami
Public relations of Iraqi companies and their role in the marketing of national products
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based on the importance of public relations in companies, I will discussed the issue of public relations and its role in marketing national products, given what these companies represent of great importance in terms of providing products and services to large segments of Iraqi society, which necessitated the need to search and investigate the role and importance of activities that Provides public relations in Iraqi companies in all categories( public, private and mixed).
the study tables and theirinterpretations, results and recommendations, and the studyreachedseveralresults, including the positive and the negative, the positive including the success in marketing the products by the number of companies in the Fairswhere the level of

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