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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 Aug 22 2019
Journal Name
International Journal Of Advancement In Social Science And Humanity
A CRITICAL DISCOURSE ANALYSIS STUDY OF PERSUASION IN THE LANGUAGE USED IN THE ELECTION CAMPAIGNS BY AMERICAN PARLIAMENTS
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BN Rashid

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Publication Date
Thu Jun 24 2021
Journal Name
Frontiers In Medicine
The Characterisation of the Craniofacial Morphology of Infants Born With Zika Virus; Innovative Approach for Public Health Surveillance and Broad Clinical Applications
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Background: This study was carried out in response to the Zika virus epidemic, which constituted a public health emergency, and to the 2019 WHO calling for strengthened surveillance for the early detection of related microcephaly. The main aim of the study was to phenotype the craniofacial morphology of microcephaly using a novel approach and new measurements, and relate the characteristics to brain abnormalities in Zika-infected infants in Brazil to improve clinical surveillance.

Methods: 3D images of the face and the cranial vault of 44 Zika-infected infants and matched healthy controls were captured using a 3D stereophotogrammetry system. The CT scans of the brain of t

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Publication Date
Tue Dec 01 2020
Journal Name
Journal Of Engineering
Simulation and Experimental Walking Pattern Generation for Two Types of Degrees of Freedom Bipedal Locomotion Robot
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Humanoids or bipedal robots are other kinds of robots that have legs. The balance of humanoids is the general problem in these types when the other in the support phase and the leg in the swing phase. In this work, the walking pattern generation is studied by MATLAB for two types of degrees of freedom, 10 and 17 degrees of freedom. Besides, the KHR-2HV simulation model is used to simulate the experimental results by Webots. Similarly, Arduino and LOBOT LSC microcontrollers are used to program the bipedal robot. After the several methods for programming the bipedal robot by Arduino microcontroller, LOBOT LSC-32 driver model is the better than PCA 96685 Driver-16 channel servo driver for programming the bipedal walking rob

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Publication Date
Wed Jun 01 2022
Journal Name
Journal Of The College Of Languages (jcl)
The Role of Gender and Culture in Dealing with the Arab Woman's Issues Embodied in Caricatures: A Cognitive Linguistic Analysis
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Gender and culture are among the factors that influence the process of understanding and interpreting different types of communication, especially images. The current study, which is a part of a master’s thesis, aims at investigating the role of gender and culture in interpreting and understanding the caricatures that deal with women’s issues in Arab societies. To this end, the researchers adopted Barthes’ (1957) concepts of denotation and connotation in his theory of mythologies in addition to Langacker’s (1987) theory of (Domains). The research concludes that the female subjects have better cognitive abilities in investing the signs within the selected caricatures. The other factor the study reached to is that the respondents

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Publication Date
Sun Dec 04 2016
Journal Name
Baghdad Science Journal
Effect of Soil Textural Classes on the Biological Nitrogen Fixation by Bradyrhizobium Measured by 15N Dilution Analysis
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The current study was conductedas a pot experiment to determine the effect of soil texture on biological nitrogen fixation (BNF) of six most efficient local isolates, specified, of Bradyrhizobium. Cowpea (Vignaunguiculata L.), as a legume host crop, was used as a host crop and 15N dilution analysis was used for accurate determination of the amount of N biologically fixed under experimental parameters specified. Soils used are clay loam, sandy clay loam and sandy loam. Biological Nitrogen Fixation (BNF), in different soil textural classes, was as in the following order: medium texture soil > heavy texture soil > light textured soil. Statistical analysis showed that there is a significant variation in BNF % among six Iraqi isolates in the th

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Publication Date
Mon Dec 20 2021
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
MOLECULAR CHARACTERIZATION OF ANISAKID NEMATODES HYSTEROTHYLACIUM SPECIES FROM JAPANESE THREADFIN BREAM NEMIPTERUS JAPONICUS (BLOCH, 1791) (PERCIFORMES, NEMIPERIDAE) FROM IRAQI MARINE WATER FISH
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The present study provides a new insight into valuable information on the diverse structure of the Anisakid population and discusses the limited species richness in the Nemipterus japonicus (Bloch,1791) (Perciformes, Nemiperidae). The fishing area consists of various locations in the Arabian Gulf (29°58 0 33 00 N48°28 0 20 E). A total of 315 marine fish were examined, (n=287) were infected. Larval stages (n= 763) encysted within the mesenteries peritoneum and viscera of fish organs were isolated, with a prevalence of 91.11% of infection and, the intensity was 2.65. Molecular analysis was carried out on thirty individuals who have examined the morphology and showed some appearance differences, by amplifying internal transcribed spacers

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Publication Date
Wed Sep 01 2010
Journal Name
Journal Of Engineering
Analysis of Concrete Flexural Members Reinforced with Fibre Polymer
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Publication Date
Mon Jun 08 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Vertical analysis of patients with late lower arch crowding
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Background: Because of many factors play a role in the developing of late lower arch crowding, therefore the objective of the current study is to do vertical analysis for subjects with late lower dental arch crowding. The conducted study is the first attempt to do vertical analysis for Iraqi subjects with late lower arch crowding to see if there is a vertical discrepancy in such patients. Subjects and methods: Eighty subjects were selected according to certain inclusion criteria from patients attending the Orthodontic Department in the College of Dentistry, Baghdad University, patients ranged between 18-25 years old. The 80 patients were divided into two groups (crowding and normal), 40 patients each (20 males and 20 females). A study cast

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Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sciences
STATISTICAL ANALYSIS OF PATIENTS INFECTED WITH CORONAVIRUS USING MANOVA
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Publication Date
Thu Aug 31 2017
Journal Name
Journal Of Engineering
Energy Analysis of Solar Collector With perforated Absorber Plate
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The thermal performance of three solar collectors with 3, 6 mm and without perforation absorber plate was assessed experimentally. The experimental tests were implemented in Baghdad during the January and February 2017. Five values of airflow rates range between 0.01 – 0.1 m3/s were used through the test with a constant airflow rate during the test day. The variation of the following parameters air temperature difference, useful energy, absorber plate temperature, and collector efficiency was recorded every 15 minutes. The experimental data reports that the increases  the number of absorber plate perforations with a small diameter is more efficient rather than increasing the hole diameter of the absorber plate with decr

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