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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 Oct 23 2020
Journal Name
Medico-legal Update
Levels of Some Cytokines in Iraqi Patients with Multiple Myeloma
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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Determination of Enzymatic Antioxidant in Iraqi Patients with Chronic Gastritis
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Infection of the gastric mucosa with Helicobacter pylori is strongly associated with chronic gastritis, peptic ulcer and gastric cancer. Helicobacter pylori virulence factors include a variety of proteins that are involved in its pathogenesis, such as VacA and CagA. Another group of virulence factors is clearly important for colonization of H.pylori in the gastric mucosa. These include urease, motility factors (flagellin), and Superoxide dismutase (SOD). Because of this organism's microaerophilic nature and the increased levels of reactive oxygen in the infected host, we expect that other factors involved in the response to oxidative stress are likely to be required for virulence. Superoxide dismutase is a near

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Publication Date
Wed Mar 29 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Electrosorption of Hexavalent Chromium Ions by MnO2/Carbon Fiber Composite Electrode: Analysis and Optimization of the Process by Box-Behnken Design
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A nano manganese dioxide (MnO2) was electrodeposited galvanostatically onto a carbon fiber (CF) surface using the simple method of anodic electrodeposition. The composite electrode was characterized by field emission scanning electron microscopy (FESEM), and X-ray diffraction (XRD). Very few studies investigated the efficiency of this electrode for heavy metals removal, especially chromium. The electrosorption properties of the nano MnO2/CF electrode were examined by removing Cr(VI) ions from aqueous solutions. NaCl concentration, pH, and cell voltage were studied and optimized using the Box-Behnken design (BDD) to investigate their effects and interactions on the electrosorption process. The results showed that the

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Publication Date
Wed Oct 01 2008
Journal Name
Iraqi J Comm Med
Dermatofibrosarcoma Protuberans:" Epidemiological and Clinical Study
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AA Al-Nuaimy, Iraqi J Comm Med, 2008 - Cited by 3

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Publication Date
Fri Mar 26 2021
Journal Name
Chemical Papers
DFT, anticancer, antioxidant and molecular docking investigations of some ternary Ni(II) complexes with 2‑[(E)‑[4‑(dimethylamino) phenyl]methyleneamino]phenol
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The biological activities of some ternary nickel complexes with a Schiff base obtained from 4-dimethylaminobenzaldehyde and 2-aminophenol have been reported. The Schiff base ( HL1) acts as a primary ligand whereas, anthranilic acid ( HL2), 2-nitroaniline ( HL3), alanine ( HL4) and histidine ( HL5) act as secondary ligand or co-ligand. The anticancer activity of these compounds was studied against human colon carcinoma (HCT-116), human hepatocellular liver carcinoma (HEPG-2) and human breast carcinoma (MCF-7) cell lines. As per the results, the compounds were active against the cell lines. The antioxidant activity of the same compounds was evaluated using DPPH (1,1-diphenyl-2-picryl-hydrazyl) radical scavenging and compared with ascorbic aci

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Publication Date
Wed Sep 01 2021
Journal Name
Baghdad Science Journal
Measuring Positive and Negative Association of Apriori Algorithm with Cosine Correlation Analysis
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This work aims to see the positive association rules and negative association rules in the Apriori algorithm by using cosine correlation analysis. The default and the modified Association Rule Mining algorithm are implemented against the mushroom database to find out the difference of the results. The experimental results showed that the modified Association Rule Mining algorithm could generate negative association rules. The addition of cosine correlation analysis returns a smaller amount of association rules than the amounts of the default Association Rule Mining algorithm. From the top ten association rules, it can be seen that there are different rules between the default and the modified Apriori algorithm. The difference of the obta

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Publication Date
Mon Aug 01 2022
Journal Name
Baghdad Science Journal
New and Existing Approaches Reviewing of Big Data Analysis with Hadoop Tools
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Everybody is connected with social media like (Facebook, Twitter, LinkedIn, Instagram…etc.) that generate a large quantity of data and which traditional applications are inadequate to process. Social media are regarded as an important platform for sharing information, opinion, and knowledge of many subscribers. These basic media attribute Big data also to many issues, such as data collection, storage, moving, updating, reviewing, posting, scanning, visualization, Data protection, etc. To deal with all these problems, this is a need for an adequate system that not just prepares the details, but also provides meaningful analysis to take advantage of the difficult situations, relevant to business, proper decision, Health, social media, sc

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Publication Date
Sat May 01 2021
Journal Name
Iop Conference Series: Earth And Environmental Science
Evaluation Yield of Okra with Associated Traits Using Analysis Correlation and Path
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Abstract<p>The study was conducted at the fields of the Department of Horticulture and Landscape Gardening, College of Agriculture Engineering Sciences, University of Baghdad. During the spring 2017. All the recommended practices were followed during experimentation. The experimental material consisted four Genotype it is Batraa, Btera, Mosulle, and local selection. The experiment was applied in Randomized Complete Block Design (RCBD). The objectives of Study were to estimate the some genetic parameters and path coefficient for some traits Okra, The results of statistical analysis for these genotypes were highly significant differences for all traits except the traits number of leaves, the numbe</p> ... Show More
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Publication Date
Thu Feb 26 2026
Journal Name
Buildings
Performance Analysis of Cement Mortar Modified with Nano-Silica and Nano-Alumina
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The limitations of conventional cement mortar as a widely used construction material include low tensile capacity, high permeability, and susceptibility to chemical degradation. The increasing demand for durable and sustainable construction materials has led to increased attention in modifying cementitious materials through nanotechnology. This study investigates the influence of nano-silica (NS) and nano-alumina (NA) on the physical, strength-related, and durability characteristics of cement mortar to determine the optimum nanomaterial type and dosage for performance enhancement. Six mortar mixes, in addition to a reference mix, were designed and prepared by adding 1%, 1.5%, and 2% of the cement weight with NS and NA separately, an

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Publication Date
Thu Jul 31 2025
Journal Name
Computers, Materials &amp; Continua
A Secure Audio Encryption Method Using Tent-Controlled Permutation and Logistic Map-Based Key Generation
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The exponential growth of audio data shared over the internet and communication channels has raised significant concerns about the security and privacy of transmitted information. Due to high processing requirements, traditional encryption algorithms demand considerable computational effort for real-time audio encryption. To address these challenges, this paper presents a permutation for secure audio encryption using a combination of Tent and 1D logistic maps. The audio data is first shuffled using Tent map for the random permutation. The high random secret key with a length equal to the size of the audio data is then generated using a 1D logistic map. Finally, the Exclusive OR (XOR) operation is applied between the generated key and the sh

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