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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 Mar 01 2018
Journal Name
Journal Of Engineering
Risks of Design Stage in Iraqi Construction Project
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The management of construction projects needs to complete the basics of system management and work. Starting from the idea and how to turn it into a full study and ended at the construction project completion arriving at the purpose prepared for it, so the projects need to control on its operation and integration system in order to succeed.

It is no secret for who concerned in construction projects field that the design stage is a very important stage in construction project because it determines the final features of the project through the requirements provided by the employer for the consultant to formulate it during this phase in the form of plans, drawings, and specifications, then translated on the ground as the shape of co

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Publication Date
Mon Dec 24 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MINERALOGY AND GEOCHEMISTRY OF CORAL REEF IN IRAQI MARINE ENVIRONMENT IN THE NORTH PART OF ARABIAN GULF
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    Coral reef area in northwest of the Arabian Gulf was investigated for mineralogy and geochemistry to throw lights on such unique Iraqi Marine Environment; six specimens of two main species of coral reefs, Platygyra pini Chevalier, 1975 and Octocoral Menella were collected at two sites. While eight samples of the surrounding sediments are chosen from other two sites. The mineralogy is determined by XRD, and reveals that calcite, low magnesium-calcite, and aragonite are the main minerals that comprise the Octocoral Menella in site 1, whilst aragonite and calcite are dominate in the P. pini coral reef at site 4.

    The non–carbonate fractions indicate that thes

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Publication Date
Fri Aug 15 2025
Journal Name
The Eurasia Proceedings Of Science Technology Engineering And Mathematics
Detection of Antimicrobial Activity of Aspergillus terreus Against Clinical Isolates of Serratia marcescens
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Out of a total of fifty samples, thirty-five isolates were identified as Serratia marcescens. Thesediverse clinical samples were collected over a three-month period, from October 2023 to December 2023, fromseveral hospitals in Baghdad, including Fatima Al-Zahraa Hospital, Al-Sader Hospital, Ibn Al-Balady Hospital,and Al-Imam Ali Hospital. The clinical samples primarily included urine from patients with urinary tractinfections (UTIs). All isolates were cultured on nutrient agar, MacConkey agar, and blood agar, and theiridentities were confirmed through biochemical testing and the Vitek 2 compact system. Based on phenotypicvirulence factors, the S. marcescens isolates showed varying positive patterns: 32 out of 35 (91.42%) forprotease

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Publication Date
Thu Oct 01 2020
Journal Name
Biochemical And Cellular Archives
Study on the effect of methotraxate drug on Retinol-Binding Protein 4 (RBP4), nesfatin and some trace elements in Iraqi male patients with rheumatoid arthritis
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Methotrexate (MTX) is one of the most effective medications to treat rheumatoid arthritis (RA).Aserum of 60 Iraqi male patients suffering from RA as (G1) was newly diagnosis and the same patient in G1 after taking MTX as G2 and 40 Iraqi male healthy control as G3. Nesfatin-1 (Nf-1) is belong to the adipokine family withpleiotropic effect. Nf-1 has been found in different tissues, including stomach, pancreas, bone cells, cartilage and heart. Retinol binding protein (RBP4) was known as transpoter of retinol from its storage sites in the liver to the extrahepatic tissues. Moreover, RBP4 acts as adipokine and contributes in the pathophsyology of prototypic inflammatory disease, rheumatoid arthritis (RA). The results showed a significant increas

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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
An analysis for adoption of subsurface irrigation technology and its role in agricultural development in Iraq
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Publication Date
Thu Jun 08 2023
Journal Name
Iraqi Journal Of Laser
PDF Lab-On-a-Chip an integrated microfluidic device sensitive low-Cost, and Rapid with a syringe pump for Analysis of Ibuprofen
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Abstract: Microfluidic devices present unique advantages for the development of efficient drug assay and screening. The microfluidic platforms might offer a more rapid and cost-effective alternative. Fluids are confined in devices that have a significant dimension on the micrometer scale. Due to this extreme confinement, the volumes used for drug assays are tiny (milliliters to femtoliters).

 In this research, a microfluidic chip consists of micro-channels carved on substrate materials built by using Acrylic (Polymethyl Methacrylate, PMMA) chip was designed using a Carbon Dioxide (CO2) laser machine. The CO2 parameters have influence on the width, depth, roughness of the chip. In order to have regular

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Publication Date
Fri Jan 15 2021
Journal Name
Palarch's Journal Of Archaeology Of Egypt/egyptology
Belief and practice in the teaching of pronunciation in the Iraqi EFL context
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IH Abdul-Abbas, QJ Rashid, M RasimYounus, PalArch's Journal of Archaeology of Egypt/Egyptology, 2021 - Cited by 9

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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Immunohistochemical Expression and Histopathological Role of CD47 in Colorectal Cancer in Iraqi Patients
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Background: Bowel cancer is the most prevalent digestive system cancer and is the 4th largest cause of cancer-related death worldwide. In Iraq, colon and rectal cancer (CRC) is the 6th most common malignancy in males and the 5th in females. This cancer is sluggish in growth, which gives a window of opportunity to screen for both precursor lesions and early cancer. The Cluster of Differentiation 47 (CD47) protein is a type of transmembrane glycoproteins found on nearly all human cells, including non-hematopoietic and hematopoietic cells. CD47 promotes CRC growth by triggering angiogenesis and apoptosis of tumor cell. Objectives: To evaluate the immunohistochemical expression of (CD47) in various colorectal samples from Iraqi patients

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Publication Date
Wed Dec 18 2019
Journal Name
Baghdad Science Journal
E4An Ultrastructural Study by Transmission Electron Microscope of Exocrine Pancreatic Cells in Diabetic Rats Treated with Herbal Combination
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     The current study was designed to investigate the alterations in the ultrastructure of orgenelles and cellular activity of exocrine pancreatic acini of experimentally induced-diabetic rats and to assess the usefulness of herbal combination supplementation in improving the ultrastructure and cellular activity of exocrine pancreas. The number of albino male rats used were 24 which divided into equally 4 groups; group I: control group, group II: alloxan-induced diabetes mellitus (single intraperitoneal dose of alloxan 120 mg/kg for 3 days), group III: herbal combination treatment composed from the extracts of fenugreek seeds (Trigonella foenum-graecum), black cumin (Nigella sativa) seeds, rhizomes

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Publication Date
Wed Jan 01 2020
Journal Name
Periodicals Of Engineering And Natural Sciences
Analyzing big data sets by using different panelized regression methods with application: Surveys of multidimensional poverty in Iraq
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Poverty phenomenon is very substantial topic that determines the future of societies and governments and the way that they deals with education, health and economy. Sometimes poverty takes multidimensional trends through education and health. The research aims at studying multidimensional poverty in Iraq by using panelized regression methods, to analyze Big Data sets from demographical surveys collected by the Central Statistical Organization in Iraq. We choose classical penalized regression method represented by The Ridge Regression, Moreover; we choose another penalized method which is the Smooth Integration of Counting and Absolute Deviation (SICA) to analyze Big Data sets related to the different poverty forms in Iraq. Euclidian Distanc

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