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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 Jan 01 2021
Journal Name
Journal Of Engineering
Catalytic Cracking of Furfural Extract-40 over Ni/HY-Zeolite Catalyst
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Modifying of HY/Zeolite is by loading nickel for applying catalyst in thermal catalytic cracking of furfural extract-40 from the lubricating base oil unit. The study involved the characterizing of HY-zeolite and promoted catalyst with nickel by X-ray diffraction analysis, Scanning electron microscopy (SEM), BET (Brunauer, Emmett, and Teller), and infrared ray analyses FTIR. The catalytic thermal cracking tubular reactor with a fixed bed with two type catalysts; HY/zeolite and Ni HY/zeolite, individually at a temperature of 580oC with LHSV 5h-1 was investigated. The results indicated that increase the conversion of catalytic cracking of furfural extract-40 also increases the yield of useful petroleum

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Publication Date
Fri Oct 01 2010
Journal Name
Radiation Effects And Defects In Solids
An automated autocorrelator for the measurement of high-frequency femtosecond pulses
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Publication Date
Wed Jun 30 2010
Journal Name
Al-kindy College Medical Journal
A prospective study of colonoscopic examination at al-kindy teaching hospital
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Background: Fiber-optic endoscopy is an important
investigation of the large intestine, whether or not the
radiologist (barium enema) has discovered a lesion in
the bowel. Colonoscopy affords a unique opportunity
to direct visualization of entire colonic mucosa. At
the same time, the physician can obtain biopsy specimens, remove polyps, and decompress volvuli.
Most experienced endoscopists and well prepared
patients can reach the cecum in over 90% of patients.
If colonoscopy is properly performed, it has a low
risk of complications, such as perforation and bleeding.
Methods: A total of 70 consecutive patients admitted
to Endoscopy department at Al-Kindy Teaching hospital from September- 2008 to July-2009.

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Publication Date
Wed Apr 30 2025
Journal Name
Iraqi Journal Of Science
Electrochemical Synthesis of Fe-doped TiO2 Nanotube for Gas Sensor Application
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Titanium dioxide (TiO2) nanotubes have gained particular interest as a material for gas sensors because of their vertical arrays, prepared by the anodization procedure. The presence of several oxygen vacancies in these nanotubes facilitates gas diffusion and provides additional active sites. This study examined the impact of voltages on the process of depositing iron nanoparticles onto arrays of TiO2 nanotubes (TNTs) for use as a gas sensor. The TNTs are manufactured using a straightforward and economical electrochemical anodization technique, specifically for gas sensor applications. By varying the deposition voltage (2-6 volts), ordered Fe-TNTs were efficiently manufactured using a simple two-step electrochemical process. It utili

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Publication Date
Sun May 01 2016
Journal Name
International Journal Of Computer Applications
Lossless Image Compression using Adaptive Predictive Coding of Selected Seed Values
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Publication Date
Mon Jun 01 2015
Journal Name
Journal Of Engineering
Mechanical Properties Of AA 6061-T6 Aluminum Alloy Friction Stir Welds
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The different parameters  on  mechanical  and  microstructural  properties  of  aluminium  alloy  6061-T6 Friction  stir-welded  (FSW) joints  were investigated in the  present study. Different welded  specimens were produced by employing variable rotating  speeds and welding speeds. Tensile strength of the produced joints  was tested at room  temperature and the the effecincy was assessed, it was 75% of the base metal at rotational speed 1500 rpm and weld speed 50 mm/min. Hardness of various zones of FSW welds are presented and  analyzed by  means of  brinell hardness number . Besides to thess tests the bending properties  investigat

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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Global Pharma Technology
External morphological study of aporiacrataegi (linnaeus, 1758), (lepidoptera: Pieridae). Northern Iraq
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This work was included external morphological study of male Black veined white butterfly Aporiacrataegi L. 1758. The study involved morphological characters of many body regions, in addition the male genitalia. This morphological characters study supported by illustrations, it should be noted the work specimens were collected from northern Iraq.

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Scopus
Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Synthesis of Polyimides derived from 2,6-diamino-4-methyl-1,3,5-triazine
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This work included synthesis of several new polymers of polyacryloyl chloride in two steps . The first step the included the reaction of N-( sub. or un sub. benzoyl and sub. or un sub. acetyl ) amidyl sub. 2,6- diamino -4-methyl-1,3,5-triazine (1-5) by condensation of many substituted acid chlorides with 2,6- diamino -4-methyl-1,3,5-triazine . While the second step included the reaction of polyacryloyl chloride with the produced compounds (1-5) in step (1) in the presence amount triethyl amine (Et3N) to obtain new polyimides (6-10). The prepared compounds were characterized by UV. , FT-IR, and some of them by 1H-NMR and 13C- NMR spectroscopy.

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Publication Date
Thu Jul 01 2021
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
A proposed encryption technique of different texts using circular link lists
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Publication Date
Sun Apr 30 2023
Journal Name
Sabrao Journal Of Breeding And Genetics
PATH COEFFICIENT ANALYSES OF INTRODUCED RICE VARIETIES UNDER DIFFERENT PLANTING DISTANCES
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Five rice (Oryza sativa L.) cultivars (N22, Amber, Moroberekan, Kinandang Patong, and Azucena) underwent path coefficient analysis across three plant spacings (15 cm × 15 cm, 20 cm × 20 cm, and 25 cm× 25 cm) in the summer of 2017 at the College of Agricultural Engineering Sciences, University of Baghdad, Al-Jadriya, Iraq. The experiment proceeded in a randomized complete block design (RCBD) with a split-plot arrangement and three replications. The main plots included three planting distances, and the subplot comprised five varieties. The traits studied were plant height, flag leaf area, number of tillers, panicle number, length and branches, grains per panicle, 1000-grain weight, and the percentage of unfilled grains. The results

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