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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
Wed Oct 11 2023
Journal Name
Journal Of Educational And Psychological Researches
Linguistic Competencies Required for Teachers of the Arabic Language for the Preparatory Stage
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The current research aims to determine the necessary linguistic competencies for Arabic language teachers of the preparatory stage (fourth grade preparatory), which were five main competencies: Arabic grammar competencies, literary competencies, cultural competencies, rhetorical competencies, and expression competencies. To achieve the objective of the research, the researcher developed a questionnaire as the main tool for collecting data based on literature, it consists of (28) items including the five main competencies. The questionnaire was administered to (60) male and female teachers at Al-Karkh's first Education Directorate in the city of Baghdad. The findings of the research indicated that Arabic language proficiency got the highe

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Publication Date
Sun Jan 04 2026
Journal Name
Iraqi Journal Of Biotechnology
Prevalence of exoU/exoS genotype among Pseudomonas aeruginosa isolated from burn wound infections
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Pseudomonas aeruginosa has been identified as the main causative agent responsible for severe infections in burn patients worldwide. This study aimed to investigate the prevalence of the exoU/exoS genotype in P. aeruginosa isolates collected from burn wound infections in Iraq. From January to April 2023, a total of eighty isolates of P. aeruginosawere obtained from patients with burn wound infections in two Iraqi hospitals (Teaching Baghdad Hospital and AL-Yarmok Hospital).The isolates were first identified using biochemical tests and then verified using molecular techniques, specifically by targeting the 16S rRNA gene with specific primers. The exoU/exoS genotype was detected using conventional polymerase chain reaction (PCR) by specifical

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Publication Date
Fri Jan 01 2016
Journal Name
Journal Of Engineering
Thermal Characteristics of Closed Wet Cooling Tower Using Different Heat Exchanger Tubes Arrangement
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This paper presents thermal characteristics analysis of a modified Closed Wet Cooling Tower (CWCT) based on heat and mass transfer principles to improve the performance of this tower in Iraq. A prototype of CWCT optimized by added packing was designed, manufactured and tested for cooling capacity of 9 kW. Experiments are conducted to explore the effects of various operational and conformational parameters on the thermal performance. In the test section, spray water temperature and both dry bulb temperature and relative humidity of the air measured at intermediate points of the heat exchanger and packing. Heat exchangers consist of four rows and eight columns for an inline tubes arrangement and six rows and five columns f

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Publication Date
Wed Jul 01 2015
Journal Name
J Fac Med Baghdad
AH jump as predictor for successful Ablation of atrioventricular nodal reentrant tachycardia (AVNRT)
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Background: Atrioventricular nodal reentrant tachycardia (AVNRT) is the commonest regular supraventricular tachyarrhythmia. Ablation in the area of slow pathway (SP) has been successfully implemented in every day clinical electrophysiological practice for more than 20 years. Although the procedure is generally regarded as effective and safe, data on long-term effects and predictors of success or failure are incomplete.

Publication Date
Tue Jan 02 2018
Journal Name
Journal Of Educational And Psychological Researches
Investigating the Factors that Affect the Oral Classroom Participation of Arab Postgraduate Students
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This study examines the factors that affect oral participation of six Arab postgraduate students (two Iraqis, two Jordanians, and two Libyans), namely, three male participants and three female participants. For this purpose, a semi-structured interview was employed. The results showed that female as well male interviewees share some factors that make oral participation in classroom disheartening. These factors include high levels of anxiety, lack of confidence, shyness, and lack of preparation. It was also that there is no difference between male and female interviewees in relation to the factors that make them feel disheartened from oral classroom participation.

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Publication Date
Mon Aug 01 2016
Journal Name
Journal Of Engineering
Structural Behavior of Confined Concrete Filled Aluminum Tubular (CFT) Columns under Concentric Load
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This paper introduces an experimental study on the behavior of confined concrete filled aluminum tubular (CFT) column to improve strength design, ductility and durability of concrete composite structures under concentrically loaded in compression to failure. To achieve this: seven column specimens with same concrete diameter 100mm and without steel reinforcement have been examined through experimental testing, which are used to study the effects of the thickness of the aluminum tube encased concrete ( thickness : 0mm, 2mm, 3mm, 4mm and 5mm with same length of column 450mm), length of column (thickness 5mm and length of column 700mm) and durability (thickness 5mm and length of column 450mm) on the structural behavior of &

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Publication Date
Tue Dec 03 2013
Journal Name
Ibn Al-haitham Journal For Pure And Applied Science
New adaptive satellite image classification technique for al Habbinya region west of Iraq
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Publication Date
Tue Nov 22 2022
Journal Name
College Of Islamic Sciences
The issues of illusion to Ibn hisham AI- Ansari( H 761T) on grammarian
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This research shows the issues of Ibn Hisham's illusion in its leadership of the grammarians; As Ibn Hisham attributed - during his presentation of grammatical issues - grammatical opinions to a number of grammarians claiming them in them, and after referring to the main concepts that pertain to those grammarians, we found that Ibn Hisham had delusional in those allegations, in addition to that clarifying the terms illusion and claim in the two circles of language And the terminology, and perhaps the most prominent result in this research is that he worked to investigate these issues by referring to their original sources, with an explanation of the illusions of Ibn Hisham in his attribution to these issues.

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Publication Date
Tue Dec 01 2015
Journal Name
Journal Of Economics And Administrative Sciences
Achieve the requirements of the Administrative Control according to human resource management practices
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Human Resources Management Practices (HRMP) and managerial control represent two academic fields that have been and still are the focus of many studies. However, merging both fields and studying the relationship that connects them and also the role that HRMP play in achieving the requirements of managerial control represents a new and novel study according to the available literature in these fields.

To achieve these goals, this study has been conducted, using the surveying questionnaire method, on a sample of ten general inspector offices in Iraq that work in the field of control for ministries and independent committees. A questionnaire has been used to collect the data which was analyzed with several s

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Publication Date
Fri Sep 30 2022
Journal Name
College Of Islamic Sciences
TYPES OF THINKING ACCORDING TO IBN AL-QAYYIM (Analytical Thinking as a Model)
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The human intellect and his ability to complex thinking is a characteristic that Allah has given him above all his creatures. Islam came to encourage the utilization of the mind by thought, contemplation and consideration of the kingdom of Allah, His signs and religion, and He gave us a set of legislation that preserves the mind and protects it from falling into error or deviation.

This research deals with one of the most important components of civilizations in general and Islamic civilization in particular, which is thinking and what is related to it. It is an essential and influential component in man's dealing with life around him and the for

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