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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 Aug 23 2024
Journal Name
Cureus
The Effect of Pan-Retinal Photocoagulation on Central Macular Thickness in a Sample of Iraqi Patients With Proliferative Diabetic Retinopathy
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Publication Date
Tue Jan 01 2019
Journal Name
Biochemical And Cellular Archives
The diagnostic validity of P16<inf>INK4A</inf> for cervical carcinoma in a group of Iraqi women infected with HPV
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Publication Date
Sat Dec 28 2024
Journal Name
Journal Of Physical Education
Decision-making by the administrative bodies of sports clubs participating in the Iraqi Premier League for football for the 2022-2023 season.
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The research aimed to study the decision-making of the administrative bodies of sports clubs participating in the Iraqi Football Premier League for the 2022-2023 season. The researchers used the descriptive approach (survey study) to suit the nature of the research. The research community is represented by members of the administrative bodies of the sports clubs participating in the Iraqi Premier Football League for the 2022-2023 season, who number (177) members of the administrative body. The researchers used the questionnaire to collect the necessary data to achieve the goal of researching The method of applying a questionnaire aimed to identify the decision-making of the administrative bodies of sports clubs. The most important r

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Publication Date
Thu Apr 25 2019
Journal Name
Iraqi Journal Of Market Research And Consumer Protection
FLOW INJECTION ANALYSIS AND SPECTROPHOTOMETRIC DETERMINATION OF NIFEDIPINEIN PHARMACEUTICAL FORMULATION: FLOW INJECTION ANALYSIS AND SPECTROPHOTOMETRIC DETERMINATION OF NIFEDIPINEIN PHARMACEUTICAL FORMULATION
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A new simple and sensitive spectrophotometric method is described for quantification of Nifedipine (NIF) and their pharmaceutical formulation. The selective method was performed by the reduction of NIF nitro group to yield primary amino group using zinc powder with hydrochloric acid. The produced aromatic amine was submitted to oxidative coupling reaction with pyrocatechol and ammonium ceric nitrate to form orange color product measured spectrophotometrically with maximum absorption at 467nm. The product was determined through flow injection analysis (FIA) system and all the chemical and physical parameters were optimized. The concentration range from 5.0 to 140.0 μg.mL-1 was obeyed Beer’s law with a limit of detection and quantitatio

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Publication Date
Wed Jun 01 2016
Journal Name
Journal Of Biotechnology Research Center
TGF-β1 Gene Polymorphism in Codon 10 +869*C/T and Codon 25 +915*G/C Positions in Iraqi Patients with Type 2 Diabetes Mellitus
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This study included 50 blood samples that were collected from patients with age ranged between 35-65 years. Thirty samples were collected from patients with Type 2 Diabetes Mellitus (T2DM), while 20 blood samples were collected from healthy individuals as a control sample. The polymorphism results of TGF-β1 gene in codon 10: +869*C/T position by using amplification refractory mutation system (ARMS-PCR) showed that the T allele was suggested to have a protective effect, while C allele was associated with an increased risk of T2DM. The TT and CT were suggested to have a protective effect, while CC genotype was associated with an increased risk of T2DM. The polymorphism results of TGF-β1 gene in codon 25: +915*G/C position in samples

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Publication Date
Thu Feb 01 2018
Journal Name
Journal Of Economics And Administrative Sciences
Compare between result of analysis of variance after and before use analysis covariance to Split-blocks design
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This research aims to study the important of the effect of analysis of covariance manner for one of important of design for multifactor experiments, which called split-blocks experiments design (SBED) to deal the problem of extended measurements for a covariate variable or independent variable (X) with data of response variable or dependent variable Y in agricultural experiments that contribute to mislead the result when analyze data of Y only. Although analysis of covariance with discussed in experiments with common deign, but it is not found information that it is discussed with split-Blocks experiments design (SBED) to get rid of the impact a covariance variable. As part application actual field experiment conducted, begun at

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Publication Date
Thu Nov 02 2023
Journal Name
Journal Of Engineering
Verification and Parametric Analysis of Shear Behavior of Reinforced Concrete Beams using Non-linear Finite Element Analysis
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Many researchers have tackled the shear behavior of Reinforced Concrete (RC) beams by using different kinds of strengthening in the shear regions and steel fibers. In the current paper, the effect of multiple parameters, such as using one percentage of Steel Fibers (SF) with and without stirrups, without stirrups and steel fibers, on the shear behavior of RC beams, has been studied and compared by using Finite Element analysis (FE). Three-dimensional (3D) models of (RC) beams are developed and analyzed using ABAQUS commercial software. The models were validated by comparing their results with the experimental test. The total number of beams that were modeled for validation purposes was four. Extensive pa

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Evaluation of serum levels of Proinflammatory Cytokines IL-8, IL-17, and IL-22 in Helicobacter pylori infection and their association with the degree of gastritis histopathology in a sample of Iraqi patients
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Gastritis can be defined as histological inflammation of the gastric mucosa. It can be classified according to the time course of the disease as acute or chronic, histological findings, anatomic location, and pathological mechanisms. The objective of this study was to evaluation of serum levels of the proinflammatory cytokines IL-8, IL-17 and IL-22 in Helicobacter pylori infection and their association with the degree of gastritis histopathology in a sample of Iraqi patients. The case-control prospective study consists of 60 patients who attended the Gastrointestinal Tract Center at Al-Kindy Teaching Hospital during the period from December 2019 to April 2020. In addition, the control group included 60 apparently healthy individuals. Bio

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Publication Date
Sun Dec 30 2018
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Analysis of Stuck Pipe Incidents in Khabaz Field
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There are many events which causes nonproductive time (NPT) in the drilling industry. The mostly effective in this NPT is pipe sticking event. A considerable amount of time and resources can be spent in efforts to free a stuck pipe. In addition, Unsuccessful fishing operations results in costly alternatives including side-tracking. The drilling in Khabaz oil field poses many operational challenges among of them stuck pipe , lost circulation, flow of salt water during drilling, and hole caving. Stuck pipe can be considered the quite difficult problem in Khabaz oil field due to associated incidents which lead to NPT activities.Well Khabaz -34 was selected to study the problem of stuck pipe in this field. An analysis of stuck pipe even

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Publication Date
Sun Mar 03 2024
Journal Name
Journal Of Media,culture And Communication
Examination of Hostility in Critical Media Discourse Analysis
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This paper provides a review of scholarly research on the depiction of hostility in critical media discourse analysis. The study is intended to analyze how hostility is differently portrayed and manifested in media discourse. The review begins by defining the multifaceted concept of hostility, encompassing cognitive, emotive, and behavioral dimensions. It then outlines the systematic process used to identify, gather and purposely select 30 relevant articles to hostility in media discourse. The method involves selecting 100 initial articles and gradually refining them to 30 articles that specifically address the themes of racism, anger, hate speech, prejudice, and aggression. These articles are sourced from diverse academic journals

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