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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
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Spectrophotometric determination of metoclopramide hydrochloride in pharmaceutical tablets, by diazotization-coupling method with 1-naphthol as the coupling agent
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Simple, rapid and sensitive spectrophotometric method was proposed for the analysis of metoclopramide hydrochloride (MPH) in pure form as well as in pharmaceutical tablets. The method is based on the diazotization reaction of MPH with sodium nitrite in hydrochloric acid medium to form diazonium salt, which is coupled with 1-naphthol in sodium hydroxide medium to form azo dye, showing absorption maxima at 550 nm. Beer’s law is obeyed in the concentration range of 0.4 – 18 µg mL-1 of MPH with detection limit 0.5448 µg mL-1. The molar absorptivity and Sandell’s sensitivity are 3.4969 × 104 L mol-1 cm-1 and 0.0101 µg cm-2, respectively. The method was successfully applied to the determination of MPH in pharmaceutical tablets with

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Changes in Interleukin-35 (IL-35), Anti-TSHR antibody and Human Insulin- like Growth Factor 1 Receptor (IGF1R) in Graves’ Disease Patients Treatedwith Radioactive Iodine
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Publication Date
Wed Jul 01 2015
Journal Name
Al–bahith Al–a'alami
Building the News Agenda in Iraqi Newspapers and Patterns of Bias in their Sources
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News are considered the most press arts that supply the target audiences with daily information and events happened inside and outside society since it is formed by depending on its resources which have a deep relation with formal corporations to gain their satisfaction in order to support their authority and spreading their domination by using mass media in editing their viewpoints and achieving wide acceptance among public opinion. In the field of technological development and changing in the fields of politics, society, culture, economics etc. inside Iraqi society and democratic transition help to convert news agenda from independent variation to a fellow variation while in the past the variation of mass media was the independent one

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Level of uric acid and its, relationship with lipid peroxidation in sera of patients with acute coronary syndrome
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Unstable angina pectoris often leads to acute myocardial infarction. Since uric acid is thought to be risk factor for cardiovascular disease and considered a major antioxidant in human blood .The level of uric acid and lipid peroxidation in the sera of patients with unstable angina and myocardial infarction were measured and compared to the healthy individuals. Twenty-nine patients with unstable angina and twenty-nine patients with myocardial infarction were studied and compared to twenty-five healthy individuals. Uric acid was measured by using Human Kit. Malondialdelyde (MDA) a lipid peroxidation marker, was measured by thiobarbituric acid method .Significant elevation of uric acid and MDA were observed in the sera of pati

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Publication Date
Sun Mar 01 2026
Journal Name
Journal Of The Society For Cardiovascular Angiography & Interventions
A Novel Strategy to Promote Equity and Access in Interventional Cardiology: Early Insights From the 2024-2025 ACC Clinical Trial Research Cohort
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Publication Date
Sun Sep 07 2014
Journal Name
Baghdad Science Journal
Analysis of Fatty Acid Composition in the Seed and flower oil of Syrian Ligustrun Lucidum and olive oil
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The fatty acid composition in the seed and flower of Ligustrun lucidum and olive oil was studied by Gas Chromatography. Results showed that the main components of seed oil were Palmitic (C16:0) 5,893% ,Palmitolic acid (C16:1)0,398%, Steaeic (C18:0)2,911% ,Oleic (C18:1)74,984%,Linoleic (C18:2) 12,959%,and Linolenic (C18:3) 0,997%. The proportion of unsaturated fatty acid was above 89,338%, so the seed oil of L. lucidum ait belonged to unsaturated oil which possessed promising application. The components of flower oil were Palmitic (C16:0) 65,674% ,Palmitolic acid (C16:1)6,516%, Steaeic (C18:0)2,641% ,Oleic (C18:1)14,707%,Linoleic (C18:2) 3,113%,and Linolenic (C18:3) 2,70%. The proportion of unsaturated fatty acid and saturated fatty acid wa

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Publication Date
Sat Apr 01 2023
Journal Name
Baghdad Science Journal
Spectrophotometric Analysis of Vancomycin Hydrochloride in Pure and Pharmaceutical Injections via Batch and Cloud Point Extraction Techniques
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Development of a precise and delicate reaction has been acquired for the determination of vancomycin hydrochloride using batch and cloud point extraction (CPE) methods. The first method is based on the formation of azo dye as a result of diazotized dapsone coupled with vancomycin HCl (VAN) in a basic medium. The sensitivity of this reaction was enhanced by utilizing a nonionic surfactant (Triton X-114) and the cloud point extraction technique (second method). The azo dye formed was extracted into the surfactant-rich phase, dissolved in ethanol and detected at λmax 440 nm spectrophotometrically. The reaction was investigated using both batch and CPE methods (with and without extraction), and a simple comparison between the two

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of The Mechanical Behavior Of Materials.
Calibration and analysis of the potable water network in the Al-Yarmouk region employing WaterGEMS and GIS
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Abstract<p>Water supply and distribution networks play an important role in our daily activities. They make a substantial contribution to public health by providing potable water for public consumption and non-potable applications such as firefighters and other purposes such as irrigation. This study used ArcMap 10.8 and WaterGEMS CONNECT Edition update 1 version to create a hydraulic network model to simulate the pipes’ network. Detailed network information, including pipe lengths, layouts, and diameters, was given by the Baghdad Water Department. The TUF-2000H Handheld digital ultrasonic flow meter has been used to measure the water flows in the network’s source nodes. In eight junctions, </p> ... Show More
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Publication Date
Sat Nov 01 2025
Journal Name
Russian Journal Of General Chemistry
Synthesis, Antibacterial Activity, and Molecular Docking Study of Some New Azo Derivatives Based on 2(4-Aminophenyl)-5-Substituted 1,3,4-Oxadiazole
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Publication Date
Sat Dec 20 2025
Journal Name
Bulletin Of The Iraq Natural History Museum
MORPHOLOGICAL AND MOLECULAR DESCRIPTION FOR A NEW RECORD OF NEMATODE ACROBELOIDES VARIUS KIM, KIM &amp; PARK, 2017 (RHABDITIDA, CEPHALOBIDAE) FROM IRAQ
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This study aimed to identify and describe one of the bacterial feeder nematode Acrobeloides varius Kim, Kim and Park, 2017 (Rhabditida, Cephalobidae), which was isolated from soil samples that were collected from Baghdad, central of Iraq, and was classified using both morphological and molecular criteria. All specimens of A. varius were cultured, identified and described using morphometric criteria. Selected specimens (Zah. IRQ3 OR994579.1 isolate) of this species were characterized by having the body length of the male ranging from (184.94 – 221.72 μm), the body length of the female ranging (507.38 – 521.92 μm) and the body length of the juvenile ranging from (355.53 – 490.35 μm). Selected specimens of this species were m

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