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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 26 2026
Journal Name
Al–bahith Al–a'alami
Challenges Faced by the Media under the Fragile State: Analytical Study of the Iraqi Media Reality
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This study aims at defining the concept of the fragile state, a term that came into existence in 2014, when the states that had internal Problems and external interventions were referred to as the failure states. However, the indicators for their designation and the criteria adopted are 12 indicators that address all aspects of the State’s duties vis-a-vis its citizens. The study examined the reasons that led to the continuation of Iraq within the fragile states, and the selection of the five years within the time limits of the study due to the factors that led to the decline of Iraq and falling back within the most fragile countries. The study dealt with the fragile state challenges to the media reality as a result of the change of it

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Publication Date
Sun Jun 30 2024
Journal Name
Iraqi Journal Of Science
Detection of Zn Water Pollution by a Biosensor Based on Alkaloids Derived from Iraqi Catharanthus Roseus
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     In this work, the detection of zinc (Zn) ions that cause water pollution is studied using the CSNPs- Linker-alkaloids compound that was prepared by linking extracted alkaloids from Iraqi Catharanthus roseus plant with Chitosan nanoparticles (CSNPs) using maleic anhydride. This compound is characterized by an X-ray diffractometer (XRD) which shows that it has an orthorhombic structure with crystallite size in the nano dimension. Zeta Potential results show that the CSNPs-Linker-alkaloids carried a positive charge of 54.4 mV, which means it possesses high stability.  The Fourier transform infrared spectroscopy (FTIR) shows a new distinct band at 1708.93 cm-1 due to C=O esterification. Scanning electron microscope (SEM) image

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Publication Date
Wed Jul 31 2019
Journal Name
Journal Of Engineering
Enhancing Heat Transfer in Tube Heat Exchanger by Inserting Discrete Twisting Tapes with Different Positions
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Enhancement of heat transfer in the tube heat exchanger is studied experimentally by using discrete twisted tapes. Three different positions were selected for inserting turbulators along tube section (horizontal position by α= 00, inclined position by α= 45 0 and vertical position by α= 900). The space between turbulators was fixed by distributing 5 pieces of these turbulators with pitch ratio    PR = (0.44). Also, the factor of constant heat flux was applied as a boundary condition around the tube test section for all experiments of this investigation, while the flow rates were selected as a variable factor (Reynolds number values vary from 5000 to 15000). The results s

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Publication Date
Sat May 14 2022
Journal Name
Oral And Maxillofacial Surgery
Evaluation of crestal sinus floor elevations using versah burs with simultaneous implant placement, at residual bone height ≥ 2.0 _ < 6.0 mm. A prospective clinical study
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Publication Date
Fri May 12 2023
Journal Name
Bulletin Of The Chemical Society Of Ethiopia
SYNTHESIS, CHARACTERIZATION, ANTIMICROBIAL STUDIES, AND MOLECULAR DOCKING STUDIES OF TRANSITION METAL COMPLEXES FORMED FROM A BENZOTHIAZOLE-BASED AZO LIGAND
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The azo ligand obtained from the diazotization reaction of 2-aminobenzothiazole and 4- nitroaniline yielded a novel series of complexes with Co(II), Ni(II), Cu(II), and Zn(II) ions. The complexes were investigated using spectral techniques such as UV-Vis, FT-IR, 1H and 13C NMR spectroscopic analyses, LC-MS and atomic absorption spectrometry, electrical conductivity, and magnetic susceptibility. The molar ratio of the synthesized compounds was determined using the ligand exchange ratio, which revealed the metal-ligand ratios in the isolated complexes were 1:2. The synthesized complexes were tested for antimicrobial activity against S. aureus, E. coli, C. albicans, and C. tropicalis bacterial species. Additionally, their binding affinities we

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Publication Date
Thu Nov 21 2019
Journal Name
Journal Of Engineering
Comparative Permeability Estimation Method and Identification of Rock Types using Cluster Analysis from Well Logs and Core Analysis Data in Tertiary Carbonate Reservoir-Khabaz Oil Field
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Characterization of the heterogonous reservoir is complex representation and evaluation of petrophysical properties and application of the relationships between porosity-permeability within the framework of hydraulic flow units is used to estimate permeability in un-cored wells. Techniques of flow unit or hydraulic flow unit (HFU) divided the reservoir into zones laterally and vertically which can be managed and control fluid flow within flow unit and considerably is entirely different with other flow units through reservoir. Each flow unit can be distinguished by applying the relationships of flow zone indicator (FZI) method. Supporting the relationship between porosity and permeability by using flow zone indictor is ca

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Publication Date
Tue Dec 01 2020
Journal Name
Gulf Economist
The Bayesian Estimation in Competing Risks Analysis for Discrete Survival Data under Dynamic Methodology with Application to Dialysis Patients in Basra/ Iraq
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Survival analysis is one of the types of data analysis that describes the time period until the occurrence of an event of interest such as death or other events of importance in determining what will happen to the phenomenon studied. There may be more than one endpoint for the event, in which case it is called Competing risks. The purpose of this research is to apply the dynamic approach in the analysis of discrete survival time in order to estimate the effect of covariates over time, as well as modeling the nonlinear relationship between the covariates and the discrete hazard function through the use of the multinomial logistic model and the multivariate Cox model. For the purpose of conducting the estimation process for both the discrete

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Publication Date
Wed Mar 01 2023
Journal Name
Journal Of Molecular Structure
Synthesis, structural investigations, XRD, DFT, anticancer and molecular docking study of a series of thiazole based Schiff base metal complexes
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A novel Schiff base (SB) ligand, abbreviated as HDMPM, resulted from the condensation of 2-amino-4-phenyl-5-methyl thiazole and 4-(diethylamino)salicyaldehyde, and its metal complexes with [Co(II), Cu(II), Ni(II), and Zn(II)] ions in high yield were formed. The physico-chemical techniques such as elemental analysis, molar conductance, IR, 1H and 13C NMR, mass spectroscopy, and electronic absorption studies were utilized to characterize the synthesized compounds. The studied compounds were examined for their possible anticancer activity against a number of human cancerous cell lines, including A549 lung carcinoma, HepG2 liver cancer, HCT116 colorectal cancer, and MCF-7 breast cancer cell lines, with doxorubicin serving as the standard. The s

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Publication Date
Tue May 07 2024
Journal Name
Hayati Journal Of Biosciences
Histological and Molecular Evaluation of the Antiproliferative Activity of Allium ampeloprasum Water Extract Against Oral Mucosa Cell Line (Gingival Cancer)
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Gingival carcinoma is a malignant neoplasm affecting the oral mucosa and is associated with significant morbidity and mortality. Allium ampeloprasum var. porrum water extracts have gotten a lot of attention because of their bioactive components, such as polyphenols, flavonoids, and alkaloids, which have a variety of pharmacological activities, including antiproliferative actions. This study aimed to evaluate the histological and molecular effects of Allium ampeloprasum (leek) water extract on the proliferation of the murine gingival cancer cell line. Histological evaluation was conducted to examine morphological changes induced by extract treatment. Molecular mechanisms underlying the observed histological changes were investigated

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Publication Date
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
The Efficiency Of Physics Forceps In Comparison To The Conventional Dental Extraction Forceps: A randomized Clinical Trial
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Background: Tooth extraction is one of the most commonly performed procedures in dentistry. It is usually a traumatic process often resulting in immediate destruction and loss of alveolar bone and surrounding soft tissues. Various instruments have been described to perform atraumatic extractions which can prevent damage to the paradental structures. The physics forceps is one of those innovations in dental extraction technologies that claim to provide an efficient means for atraumatic dental extractions. Materials and method: A randomized clinical trial was conducted to compare the physics forceps with the conventional forceps for the removal of 28 mandibular single rooted teeth under the following parameters: incidence of crown, root, b

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